Publication date: November 2016
Source:International Journal of Pediatric Otorhinolaryngology, Volume 90
Author(s): Noa Rozendorn, Michael Wolf, Arkadi Yakirevich, Yisgav Shapira, Eldar Carmel
BackgroundTympanic membrane perforation (TMP) may be caused by acute and chronic otitis media, trauma and iatrogenic reasons. The goal of myringoplasty is to achieve a dry, self-cleansing ear with intact TM while preserving hearing. Literature review of myringoplasty outcome demonstrates results with different success rates and affecting factors.ObjectivesThe aim of this study was to evaluate TMP closure (TMPC) rate and hearing improvement and to assess the effect of clinical and surgical parameters on residual and recurrent perforation.Materials and methodsRetrospective chart analysis of pediatric patients who underwent myringoplasty between the years 2000–2015. Closure success rate and hearing improvement were evaluated. The influence of age and clinical and surgical variables over TMPC rate and recurrent perforation were examined.ResultsOur study cohort consisted of 165 myringoplasties in 151 children, with a mean age of 11.7 years (R = 4.8–17.9, Me = 12.0).At one month follow-up (FU) TMPC rate was 88% (145/165). Among patients with successful TMPC a mean improvement of air bone gap (ABG) and speech reception threshold (SRT) were 9.9 dB, p < 0.001 and 9.4 dB, p < 0.001, respectively.58/145 (40%) patients with initial closure had a minimum FU of 6 months (Me = 12.0), during which time 8/58(13.8%) had a recurrent perforation. Surgery before 9 years of age was the only factor correlated with failed initial closure (p = 0.03) and recurrent perforation (p = 0.02).ConclusionsPediatric myringoplasty is associated with high TMPC rate. Hearing improvement is to be expected in most hearing impaired patients. Age under 9 years is associated with significantly higher rates of persistent and recurrent perforation.
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OtoRhinoLaryngology by Alexandros G.Sfakianakis,,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Παρασκευή 30 Σεπτεμβρίου 2016
Myringoplasty in children
Distribution of oral and maxillofacial lesions in pediatric patients from a Brazilian southeastern population
Publication date: November 2016
Source:International Journal of Pediatric Otorhinolaryngology, Volume 90
Author(s): Aline Priscila Ataíde, Felipe Paiva Fonseca, Alan Roger Santos Silva, Jacks Jorge Júnior, Márcio Ajudarte Lopes, Pablo Agustin Vargas
ObjectivesOral lesions affecting infants account for approximately 10% of all samples from diagnostic services and studies investigating the distribution of these lesions in pediatrics from different geographic areas are desired to improve the diagnostic knowledge of clinicians. Therefore, the aim of this study is to describe the distribution of oral lesions in a southeastern Brazilian population.MethodsThe oral pathology files of the University of Campinas was retrospectively reviewed for all cases diagnosed from 2000 to 2014 affecting patients 16-years-old and younger. Data on gender and diagnosis were retrieved from patients' oral pathology reports and included in a Microsoft Excel® database.ResultsOut of 34,138 cases, 2539 affected pediatric patients (7.4%) with a higher incidence in those with 13–16 years-old. Salivary gland disease was the most common group of lesions (37.1%), followed by mucosal pathology (13.6%) and odontogenic cysts (11.3%). Mucous extravasation cyst was the most common lesion (36.3%), followed by fibrous hyperplasia (5.6%) and dental follicle (5.2%). Dental lesions were uncommon (7.9%) and malignancies rare (0.4%).ConclusionsOur results were similar to previous studies and the small differences observed were more likely result of methodological variability and characteristics of the service of origin from where samples were collected.
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Tyrosine Hydroxylase Expression in Type II Cochlear Afferents in Mice
Abstract
Acoustic information propagates from the ear to the brain via spiral ganglion neurons that innervate hair cells in the cochlea. These afferents include unmyelinated type II fibers that constitute 5 % of the total, the majority being myelinated type I neurons. Lack of specific genetic markers of type II afferents in the cochlea has been a roadblock in studying their functional role. Unexpectedly, type II afferents were visualized by reporter proteins induced by tyrosine hydroxylase (TH)-driven Cre recombinase. The present study was designed to determine whether TH-driven Cre recombinase (TH-2A-CreER) provides a selective and reliable tool for identification and genetic manipulation of type II rather than type I cochlear afferents. The "TH-2A-CreER neurons" radiated from the spiral lamina, crossed the tunnel of Corti, turned towards the base of the cochlea, and traveled beneath the rows of outer hair cells. Neither the processes nor the somata of TH-2A-CreER neurons were labeled by antibodies that specifically labeled type I afferents and medial efferents. TH-2A-CreER-positive processes partially co-labeled with antibodies to peripherin, a known marker of type II afferents. Individual TH-2A-CreER neurons gave off short branches contacting 7–25 outer hair cells (OHCs). Only a fraction of TH-2A-CreER boutons were associated with CtBP2-immunopositive ribbons. These results show that TH-2A-CreER provides a selective marker for type II versus type I afferents and can be used to describe the morphology and arborization pattern of type II cochlear afferents in the mouse cochlea.
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Effect of a repeated tongue-lift motor task for tongue function
This study investigated the effect of repeated tongue motor tasks on suprahyoid muscle activity and tongue pressure. Fourteen participants performed three series of a standardized tongue-lift training (TLT) task on each of five consecutive days. Electromyographic (EMG) activity from suprahyoid muscles and tongue pressure were recorded. In the first and third TLT series, participants were instructed only to target different force levels. During the second TLT series, visual feedback of the force level was given. One series consisted of three measurements [at 10%, 20%, and 40% of maximum voluntary contraction (MVC), respectively]. The coefficient of determination of the target force level–EMG curve and the target force level–tongue pressure curve was calculated from all series. There were no statistically significant day-to-day differences in EMG-root mean square (RMS) values and tongue pressure during MVC. The coefficients of determination of tongue pressure in the first series on day 1 were statistically significantly lower than the coefficients of determination in the first series on day 5. These findings suggest that the control of tongue pressure improved, while the maximum force remained constant. These results could have implications for treatment paradigms related to learning for patients with compromised tongue function, such as swallowing disorders or dysphagia.
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Tyrosine Hydroxylase Expression in Type II Cochlear Afferents in Mice
Abstract
Acoustic information propagates from the ear to the brain via spiral ganglion neurons that innervate hair cells in the cochlea. These afferents include unmyelinated type II fibers that constitute 5 % of the total, the majority being myelinated type I neurons. Lack of specific genetic markers of type II afferents in the cochlea has been a roadblock in studying their functional role. Unexpectedly, type II afferents were visualized by reporter proteins induced by tyrosine hydroxylase (TH)-driven Cre recombinase. The present study was designed to determine whether TH-driven Cre recombinase (TH-2A-CreER) provides a selective and reliable tool for identification and genetic manipulation of type II rather than type I cochlear afferents. The "TH-2A-CreER neurons" radiated from the spiral lamina, crossed the tunnel of Corti, turned towards the base of the cochlea, and traveled beneath the rows of outer hair cells. Neither the processes nor the somata of TH-2A-CreER neurons were labeled by antibodies that specifically labeled type I afferents and medial efferents. TH-2A-CreER-positive processes partially co-labeled with antibodies to peripherin, a known marker of type II afferents. Individual TH-2A-CreER neurons gave off short branches contacting 7–25 outer hair cells (OHCs). Only a fraction of TH-2A-CreER boutons were associated with CtBP2-immunopositive ribbons. These results show that TH-2A-CreER provides a selective marker for type II versus type I afferents and can be used to describe the morphology and arborization pattern of type II cochlear afferents in the mouse cochlea.
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Lacrimal System Obstruction After Radioiodine Therapy in Differentiated Thyroid Carcinomas: A Prospective Comparative Study
Thyroid , Vol. 0, No. 0.
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Subjective experience of inner speech in aphasia: Preliminary behavioral relationships and neural correlates
Source:Brain and Language, Volume 164
Author(s): Mackenzie E. Fama, William Hayward, Sarah F. Snider, Rhonda B. Friedman, Peter E. Turkeltaub
Many individuals with aphasia describe anomia with comments like "I know it but I can't say it." The exact meaning of such phrases is unclear. We hypothesize that at least two discrete experiences exist: the sense of (1) knowing a concept, but failing to find the right word, and (2) saying the correct word internally but not aloud (successful inner speech, sIS). We propose that sIS reflects successful lexical access; subsequent overt anomia indicates post-lexical output deficits. In this pilot study, we probed the subjective experience of anomia in 37 persons with aphasia. Self-reported sIS related to aphasia severity and phonological output deficits. In multivariate lesion-symptom mapping, sIS was associated with dorsal stream lesions, particularly in ventral sensorimotor cortex. These preliminary results suggest that people with aphasia can often provide meaningful insights about their experience of anomia and that reports of sIS relate to specific lesion locations and language deficits.
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Multidisciplinary Approach to Management of Temporal Bone Giant Cell Tumor
J Neurol Surg Rep 2016; 77: e144-e149
DOI: 10.1055/s-0036-1592082
Background Giant cell tumors (GCTs) are rare osseous tumors that rarely appear in the skull. Methods We review the clinical course of a 28-year-old previously healthy woman with a complicated GCT. Results The reviewed patient presented with a middle cranial fossa tumor acutely complicated by reactive mastoiditis. Left tympanomastoidectomy was performed for drainage of the mastoiditis and for biopsies of the tumor. Due to the challenging tumor location, the patient was treated with denosumab, a fully humanized monoclonal antibody against receptor activator of nuclear factor kappa-B ligand, for 7 months, which resulted in significant preoperative tumor shrinkage. Extensive temporal craniotomy and resection of the tumor followed utilizing a temporomandibular joint total endoprosthesis for reconstruction. A recurrence of the tumor was detected on computed tomography at 19 months after surgery and treated with transtemporal tumor resection, parotidectomy, and mandible re-reconstruction. Conclusion A multidisciplinary approach resulted in a good functional result and, finally, an eradication of the challengingly located middle cranial fossa tumor.
[...]
Georg Thieme Verlag KG Stuttgart · New York
Article in Thieme eJournals:
Table of contents | Abstract | open access Full text
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ASBA Study Club Gets Raving Reviews from Attendees “Best Money for the Dollar!”
At the beautiful Pointe Hilton Squaw Peak in Phoenix, Arizona, the American Sleep and Breathing Academy (ASBA) held another successful Study Club and Diplomate Review Course/Exam. The event was sold out with over 50 dentists and their staff attending what was called "the best sleep course I've ever spent money on" by Dr. Harry Sugg out of Dallas, TX. The speaker lineup was incredible, featuring the power house in dental sleep medicine Dr. Rod Willey, Dr. Kevin Mueller, Dr. Brad Eli, Dr. Paul Vanwalleghem and Dr. Cynthia Wiggins.
The first day was spectacular. The ASBA Diplomates, who all own a 1.5 million dollar plus dental sleep practice, concentrated on helping attendees learn the skills to implement sleep apnea dentistry in their practice and what to do to drive patients through their doors. Every dentist to sit for the exam gives most of the credit to the review course, a one day seminar that uses mock exams and literature reviews to prepare ASBA members to sit for the ASBA diplomacy exam the very next day, for their successful results on the test.
The second day exceeded expectations, with NFL legends Jet Stream Roy Green and Derek Kennard sharing their personal stories involving sleep apnea treatment with an oral appliance and where their journeys to spread awareness began. David Gergen, CEO of the ASBA, delivered a presentation showing that ASBA diplomates have the opportunity to develop a working relationship with local NFLPA chapters through Pro Player Health Alliance in a program proven to successfully market your dental sleep practice regardless of where you are located in the country.
If you missed out on the most recent study club, you can mark your calendar for February 24-25 and attend the next study club being held by the ASBA. You won't want to miss out on an opportunity to sit with and learn from the top dentists in the industry. Dr. Rod Willey, Dr. Kevin Mueller, Dr. Larry Tilley and Dr. Paul Vanwalleghem won't only give you clinical education, they will provide you with information that will take you and your office to the next level. Register for the most vital, essential & powerful dental sleep learning event you'll ever attended as soon as possible before all spots are filled again.
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Killer immunoglobulin-like receptor (KIR) and KIR–ligand genotype do not correlate with clinical outcome of renal cell carcinoma patients receiving high-dose IL2
Abstract
NK cells play a role in many cancer immunotherapies. NK cell activity is tightly regulated by killer immunoglobulin-like receptor (KIR) and KIR–ligand interactions. Inhibitory KIR–ligands have been identified as HLA molecules, while activating KIR–ligands are largely unknown. Individuals that have not inherited the corresponding KIR–ligand for at least one inhibitory KIR gene are termed the "KIR–ligand missing" genotype, and they are thought to have a subset of NK cells that express inhibitory KIRs for which the corresponding KIR–ligand is missing on autologous tissue, and thus will not be inhibited through KIR–ligand recognition. In some settings where an anticancer immunotherapeutic effect is likely mediated by NK cells, individuals with a KIR–ligand missing genotype have shown improved clinical outcome compared to individuals with an "all KIR–ligands present" genotype. In addition, patients receiving hematopoietic stem cell transplants for leukemia may do better if their donor has more activating KIR genes (i.e., KIR haplotype-B). In a recent multi-institution clinical trial of patients with metastatic renal cell carcinoma receiving high-dose IL2 (HD-IL2), 25 % of patients showed a complete or partial tumor response to this therapy. We genotyped KIR and KIR–ligand genes for these patients (n = 107) and tested whether KIR/KIR–ligand genotypes correlated with patient clinical outcomes. In these analyses, we did not find any significant association of KIR/KIR–ligand genotype (either KIR–ligand missing or the presence of KIR haplotype-B) with patient outcome in response to the HD-IL2 therapy.
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A Novel Digital Patient-Reported Outcome Platform for Head and Neck Oncology Patients—A Pilot Study
Introduction: The patient's role in toxicity reporting is increasingly acknowledged. There is also a need for developing modern communication methods between the patient and the medical personnel. Furthermore, the increasing number of head and neck cancer (HNC) patients is reflected in the volume of treatment follow-up visits, which remains a challenge for the health care. Electronic patient-reported outcome (ePRO) measures may provide a cost-efficient way to organize follow-up for cancer patients. Materials and Methods: We tested a novel ePRO application called Kaiku®, which enables real-time, online collection of patient-reported outcomes, such as side effects caused by treatment and quality of life. We conducted a pilot study to assess the suitability of Kaiku® for HNC patients at the Department of Oncology, Helsinki University Hospital, Helsinki, Finland. Patients used Kaiku® during and one month after radiotherapy to report treatment-related side effects and quality of life. Two physicians and a nurse performed the practical electronic communication part of the study. Results: Five of the nine patients agreed to participate in the study: three of them had local early-stage larynx cancer (T2N0, T1aN0, and T2N0) and the remaining two patients had early-stage base of tongue cancer (T2N0 and T1N2b). The degree of side effects reported by the patients via Kaiku® ranged from mild to life threatening. The number of outcome data points on patients' progress was significantly increased, which resulted in a better follow-up and improved communication between the patient and the care team. Conclusions: Kaiku® seems to be a suitable tool to monitor side effects and quality of life during and after radiotherapy among HNC patients. Kaiku® and similar tools could be useful in organizing a cost-effective follow-up process for HNC patients. We recommend conducting a larger study to further assess the impact of an ePRO solution in routine clinical practice. • ePRO solutions may aid in the follow-up for cancer patients. • They seem suitable to monitor, for example, side effects and quality of life. • These systems ensure fast patient-driven reporting.
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Clinical Spectrum, Treatment and Relapse Patterns in 353 Patients with Squamous Cell Carcinoma of the Alveobuccal Complex Treated with a Curative Intent: A Retrospective Study
Abstract
Aims and Objectives
Oral cancer is one of the most common cancers in Indian subcontinent with alveobuccal complex as most common cancer sub site. Cancers of Alveobuccal complex provides maximum challenge and management guidelines are not clear. The aim of the present study is to provide comprehensive demographic, clinical and treatment outcome data of alveobuccal squamous cell carcinoma (SCC) patients treated at a tertiary care cancer center in North India.
Materials and Methods
An analysis of prospectively maintained database in department of surgical oncology at Dr BRA-IRCH, AIIMS, Delhi, India was performed. All alveobuccal cancer patients who had undergone surgery from 1995 to 2010 were included for analysis.
Results
A total of 353 patients were included for analysis. Mean age was 49.75 years (SD ±12.04) with male and female ratio of 4:1. Composite resection without mandible was done in 25 % patients and 75 % underwent mandibular resection. Neck dissection was performed in 347 patients. Nodal deposits were identified in 124 (35.73 %) neck dissection specimens. Margin negative resection was performed in 89.5 % cases. After a median follow up of 30 months, 87 (24.64 %) patients developed disease relapse and 25 (7.08 %) patients developed second primaries. Overall 5-year disease free survival (DFS) was 57.65 % and 5 year overall survival (OS) was 59.86 %.
Conclusion
Among Indian oral cancer patients alveobuccal complex is most common sub site. Majority presents in locally advanced stage and reasonably good outcomes can be achieved with quality control surgery and judicious use of radiotherapy.
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Processing Mechanisms in Hearing-Impaired Listeners: Evidence from Reaction Times and Sentence Interpretation.
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Processing Mechanisms in Hearing-Impaired Listeners: Evidence from Reaction Times and Sentence Interpretation.
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Tyrosine Hydroxylase Expression in Type II Cochlear Afferents in Mice
Abstract
Acoustic information propagates from the ear to the brain via spiral ganglion neurons that innervate hair cells in the cochlea. These afferents include unmyelinated type II fibers that constitute 5 % of the total, the majority being myelinated type I neurons. Lack of specific genetic markers of type II afferents in the cochlea has been a roadblock in studying their functional role. Unexpectedly, type II afferents were visualized by reporter proteins induced by tyrosine hydroxylase (TH)-driven Cre recombinase. The present study was designed to determine whether TH-driven Cre recombinase (TH-2A-CreER) provides a selective and reliable tool for identification and genetic manipulation of type II rather than type I cochlear afferents. The "TH-2A-CreER neurons" radiated from the spiral lamina, crossed the tunnel of Corti, turned towards the base of the cochlea, and traveled beneath the rows of outer hair cells. Neither the processes nor the somata of TH-2A-CreER neurons were labeled by antibodies that specifically labeled type I afferents and medial efferents. TH-2A-CreER-positive processes partially co-labeled with antibodies to peripherin, a known marker of type II afferents. Individual TH-2A-CreER neurons gave off short branches contacting 7–25 outer hair cells (OHCs). Only a fraction of TH-2A-CreER boutons were associated with CtBP2-immunopositive ribbons. These results show that TH-2A-CreER provides a selective marker for type II versus type I afferents and can be used to describe the morphology and arborization pattern of type II cochlear afferents in the mouse cochlea.
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Clinical outcome and morbidity in pediatric patients with nasopharyngeal cancer treated with chemoradiotherapy.
Clinical outcome and morbidity in pediatric patients with nasopharyngeal cancer treated with chemoradiotherapy.
Pediatr Blood Cancer. 2016 Sep 29;
Authors: Sahai P, Mohanti BK, Sharma A, Thakar A, Bhasker S, Kakkar A, Sharma MC, Upadhyay AD
Abstract
OBJECTIVES: The aim of the study was to evaluate the outcome and treatment-related morbidity in pediatric patients with nasopharyngeal carcinoma (NPC) treated with chemoradiotherapy.
METHODS: We did a retrospective review of 41 pediatric patients diagnosed with NPC between 2000 and 2013. The majority of the patients were treated with neoadjuvant chemotherapy followed by concurrent chemoradiation with the dose of 70 Gy in 35 fractions. Eight patients were treated with intensity-modulated radiation therapy, while the remaining with three-dimensional conformal radiation therapy or two-dimensional simulation technique.
RESULTS: The median age of the patients was 14 years (range 6-20 years). Most of the patients had locoregionally advanced disease (stage III/IVA/IVB). The histology of all the cases was undifferentiated carcinoma. Immunohistochemistry for the Epstein-Barr virus-Latent membrane protein 1 was positive in nine of the 13 tested cases. The median follow-up for all and the surviving patients was 26.6 months (range 2-140.8) and 51.2 months, respectively. The 3-year overall survival (OS) and event-free survival (EFS) rates were estimated at 83.7% (95% confidence interval [CI]: 64.8-93%) and 55.8% (95%CI: 38.7-69.8%), respectively. Distant metastases were the predominant pattern of failure. Treatment response showed an independent association with OS. T classification (T1/T2 vs. T3/T4) was significantly associated with EFS. Xerostomia, hypothyroidism, dental caries, neck fibrosis, trismus, and dysphagia were the common late effects in survivors. Radiation myelitis was observed in one patient.
CONCLUSIONS: Treatment with neoadjuvant chemotherapy followed by concurrent chemoradiation provides good survival outcomes in pediatric NPC. The quality of life of the survivors is a pertinent area that necessitates consideration.
PMID: 27681956 [PubMed - as supplied by publisher]
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Methods for Reducing Normal Tissue Complication Probabilities in Oropharyngeal Cancer: Dose Reduction or Planning Target Volume Elimination.
Methods for Reducing Normal Tissue Complication Probabilities in Oropharyngeal Cancer: Dose Reduction or Planning Target Volume Elimination.
Int J Radiat Oncol Biol Phys. 2016 Nov 1;96(3):645-52
Authors: Samuels SE, Eisbruch A, Vineberg K, Lee J, Lee C, Matuszak MM, Ten Haken RK, Brock KK
Abstract
PURPOSE: Strategies to reduce the toxicities of head and neck radiation (ie, dysphagia [difficulty swallowing] and xerostomia [dry mouth]) are currently underway. However, the predicted benefit of dose and planning target volume (PTV) reduction strategies is unknown. The purpose of the present study was to compare the normal tissue complication probabilities (NTCP) for swallowing and salivary structures in standard plans (70 Gy [P70]), dose-reduced plans (60 Gy [P60]), and plans eliminating the PTV margin.
METHODS AND MATERIALS: A total of 38 oropharyngeal cancer (OPC) plans were analyzed. Standard organ-sparing volumetric modulated arc therapy plans (P70) were created and then modified by eliminating the PTVs and treating the clinical tumor volumes (CTVs) only (C70) or maintaining the PTV but reducing the dose to 60 Gy (P60). NTCP dose models for the pharyngeal constrictors, glottis/supraglottic larynx, parotid glands (PGs), and submandibular glands (SMGs) were analyzed. The minimal clinically important benefit was defined as a mean change in NTCP of >5%. The P70 NTCP thresholds and overlap percentages of the organs at risk with the PTVs (56-59 Gy, vPTV56) were evaluated to identify the predictors for NTCP improvement.
RESULTS: With the P60 plans, only the ipsilateral PG (iPG) benefited (23.9% vs 16.2%; P<.01). With the C70 plans, only the iPG (23.9% vs 17.5%; P<.01) and contralateral SMG (cSMG) (NTCP 32.1% vs 22.9%; P<.01) benefited. An iPG NTCP threshold of 20% and 30% predicted NTCP benefits for the P60 and C70 plans, respectively (P<.001). A cSMG NTCP threshold of 30% predicted for an NTCP benefit with the C70 plans (P<.001). Furthermore, for the iPG, a vPTV56 >13% predicted benefit with P60 (P<.001) and C70 (P=.002). For the cSMG, a vPTV56 >22% predicted benefit with C70 (P<.01).
CONCLUSIONS: PTV elimination and dose-reduction lowered the NTCP of the iPG, and PTV elimination lowered the NTCP of the cSMG. NTCP thresholds and the percentage of overlap of the PTV with organs at risk can predict which patients will benefit and inform future clinical trial design.
PMID: 27681761 [PubMed - in process]
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How do Australians living with MS experience oral health and accessing dental care? A focus group study.
How do Australians living with MS experience oral health and accessing dental care? A focus group study.
Community Dent Oral Epidemiol. 2016 Sep 28;
Authors: Pateman K, Cockburn N, Campbell J, Ford PJ
Abstract
OBJECTIVES: The symptoms of multiple sclerosis (MS) can affect oral care and access to dental services, but there is limited literature describing the oral health and perceived oral healthcare needs of people with MS. This study aimed to explore the oral health experiences, oral health behaviours and barriers to accessing dental care perceived by people living with MS in Australia.
METHODS: Six focus groups were held across two metropolitan areas (Brisbane, Queensland and Melbourne, Victoria) and one regional area (Toowoomba, Queensland). Focus group data were analysed using thematic analysis.
RESULTS: Living with MS was a highly individual experience due to the range of symptoms that may be experienced. In addition to having different symptom experiences to others with MS, individual symptoms also differed on a daily basis as the disease relapsed and remitted. The physical expressions of MS directly and indirectly affected the oral health of participants. Additionally, oral health was affected by the side effects of medications and orofacial pain symptoms. Depending on the symptoms experienced by the individual, personal oral hygiene was affected and professional dental appointments were difficult. Participants also experienced structural barriers to accessing professional dental care including difficulty accessing transport to-and-from dental appointments, space limitations in the dental surgery and financial barriers to care.
DISCUSSION: Dental care was perceived to be inflexible and was not tailored to individual experiences of MS, which contributed to perceptions of poor quality and appropriateness of care. It is important for dental professionals to offer tailored and individualized dental care when treating people with MS. Our findings suggest that there needs to be greater interprofessional communication and referral to manage atypical dental pain symptoms. Oral health education for people with MS should include altered strategies to performing daily oral hygiene, the management of xerostomia and advice regarding low cariogenic diets suitable for dysphagia. Additionally, policy and strategies to improve the oral health of people with MS should focus on enhancing access through transport, reducing the cost of dental services to the individual and providing domiciliary oral health care.
PMID: 27681479 [PubMed - as supplied by publisher]
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Large Retropharyngeal Abscesses in an Immunocompetent Adult Patient with Disseminated Tuberculosis.
Large Retropharyngeal Abscesses in an Immunocompetent Adult Patient with Disseminated Tuberculosis.
Am J Case Rep. 2016;17:690-693
Authors: Amaya-Tapia G, Rodríguez-Toledo A, Aguilar-Benavides S, Aguirre-Avalos G
Abstract
BACKGROUND The retropharyngeal abscess is a rare presentation of head and neck tuberculosis. The pathogenesis of the abscess formation in the retropharyngeal space in the adult is controversial. CASE REPORT We report a case of large retropharyngeal abscesses in a 46-year-old man with disseminated tuberculosis. The patient had severe progressive dysphagia, weight loss, and a slowly enlarging bilateral cervical mass during a period of three months. His posterior pharynx wall was bulging and red, and both tonsils were enlarged and congested. The neck had an abscess of 5 cm in diameter that was firm, tender, and warm along the left sternocleidomastoid muscle. Palpable bilateral lymphadenitis was detected in the submandibular, cervical, axillary, and inguinal regions. A computed tomographic (CT) scan of the neck revealed large bilobulated retropharyngeal abscesses. A liver ultrasound showed multiple hypoechoic lesions. A Ziehl-Neelsen smear for acid-fast bacilli was positive from different abscess samples, and mycobacterial cultures subsequently yielded Mycobacterium tuberculosis. Antituberculous therapy was begun and the retropharyngeal abscesses were aspirated by external incision with complete drainage and relief of symptoms. CONCLUSIONS Large retropharyngeal abscess is a rare entity in which Mycobacterium tuberculosis etiology should be considered, especially in endemic countries, and the diagnosis may be difficult because symptoms and signs are influenced by abscess size and time of onset, or if the etiology is not suspected.
PMID: 27680292 [PubMed - as supplied by publisher]
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An overlap case of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation.
An overlap case of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation.
Rinsho Shinkeigaku. 2016 Sep 28;
Authors: Sakai T, Kondo M, Tomimoto H, Yamagishi Y
Abstract
We report a 28-year-old woman with the overlap of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation. She showed total ophthalmoplegia, dysphagia, dysarthria, upper extremity weakness, cerebellar ataxia, slightly diminished superficial sensations in her hands and feet, urinary retention and constipation 14 days after preceding infection. Laboratory data showed elevations of antiganglioside antibodies to GT1b, GD1b, GQ1b, GD3 and GT1a in the IgG subclass. There was slight elevation of protein with no pleocytosis in cerebrospinal fluid. After administration of intravenous immunoglobulin (IVIg), only the titer of antiganglioside antibody to GQ1b was decreased, and she showed rapid improvement in dysphagia, urinary retention and constipation, and slow recovery in ophthalmoplegia and cerebellar ataxia. The elevations of antiganglioside antibodies to GQ1b may be pathologically related to autonomic involvement such as urinary retention and constipation in that IVIg seems to be effective. The present case suggests that GQ1b may also locate in the autonomic nerve that plays bladder and defecation functions, and that incidence of neurological symptoms and the response of treatment may differ according to each GQ1b localization.
PMID: 27680222 [PubMed - as supplied by publisher]
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A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1.
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1.
Rinsho Shinkeigaku. 2016 Sep 28;
Authors: Koge J, Hayashi S, Yamaguchi H, Tateishi T, Murai H, Kira JI
Abstract
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait. Tendon reflexes were brisk throughout, and Babinski and Chaddock reflexes were both positive bilaterally. Laboratory tests revealed elevated lactate and pyruvate concentrations in both serum and cerebrospinal fluid. Fluid attenuated inversion recovery magnetic resonance imaging showed high intensity lesions in the bilateral cerebellar hemispheres, pyramidal tracts in the brainstem, and internal capsules symmetrically. Brain magnetic resonance spectroscopy measurements revealed an elevated lactate/creatine plus phosphocreatine ratio and a decreased N-acetyl-aspartate/creatine plus phosphocreatine ratio in the cerebellum. At this point, mitochondrial diseases, particularly myoclonic epilepsy with ragged-red fibers (MERRF), to be the most likely cause. We performed a biopsy of his left biceps brachii muscle, showing variations in fiber size with occasional central nuclei and very few ragged-red fibers. Blood mitochondrial respiratory enzyme assays showed normal values with elevated citrate synthase activity, and mitochondrial DNA analyses for MERRF revealed no pathogenic mutations. We then explored other possibilities and detected an elevated serum cholestanol concentration of 20.4 μg/ml (reference value <4.0) and genetic analysis by direct sequencing method disclosed a novel frame-shift mutation (c. 43_44delGG) in CYP27A1 gene exon1, leading to a diagnosis of cerebrotendinous xanthomatosis (CTX). This case emphasizes importance of awareness of CTX as a possibility when patients present with clinical phenotypes mimicking mitochondrial diseases, but with negative results for muscle pathology or genetic analyses. The measurements of serum cholestanol concentrations might be useful in diagnosing such atypical cases.
PMID: 27680221 [PubMed - as supplied by publisher]
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[Efficacy comparison of laparoscopic Nissen, Toupet and Dor fundoplication in the treatment of hiatal hernia complicated with gastroesophageal reflux disease].
[Efficacy comparison of laparoscopic Nissen, Toupet and Dor fundoplication in the treatment of hiatal hernia complicated with gastroesophageal reflux disease].
Zhonghua Wei Chang Wai Ke Za Zhi. 2016 Sep 25;19(9):1014-1020
Authors: Su F, Zhang C, Ke L, Wang Z, Li Y, Li H, Du Z
Abstract
OBJECTIVE: To compare the efficacy and safety among laparoscopic Nissen, Toupet and Dor fundoplication in the treatment of hiatal hernia complicated with gastroesophageal reflux disease (GERD).
METHODS: Clinical data of 276 patients of hiatal hernia complicated with GERD undergoing operation in our hospital from December 2012 to January 2015 were retrospectively analyzed, including 149 patients of laparoscopic Nissen fundoplication (Nissen group), 41 of laparoscopic Toupet fundoplication (Toupet group), and 86 patients of laparoscopic Dor fundoplication (Dor group). Esophageal reflux status, esophageal manometry, GERD Q rating scale, and postoperative recovery were compare among the three groups.
RESULTS: Reflux status was improved significantly in the three groups after operation(all P<0.05),except that the efficacy in reducing reflux episodes and reflux longest time was not obvious in Toupet group(P>0.05). There were no significant differences in postoperative reflux time, acid reflux time ratio, reflux longest time ratio, DeMeester score among the three groups (all P>0.05). Pairwise comparison showed that Dor group was significantly better than Toupet group in reducing the number of reflux episode(14.36±10.58 vs. 29.83±19.71) and long-reflux (0.64±0.21 vs. 6.20±3.48)(both P<0.05), but Nissen group was better than these two groups in reducing the number of long-reflux (0.38±0.16, P<0.05). As compared to pre-operation, the postoperative esophageal sphincter pressure and residual pressure increased significantly, and the relaxation rate reduced significantly (all P<0.05), while the episode of ineffective swallowing increased significantly in Toupet group (11.25±2.04 vs. 6.36±3.26, P<0.05). The contrast in esophageal manometry between Toupet and Dor group showed that Dor group was better than Toupet group in the recovery of lower esophageal sphincter pressure (mean resting breathing) [(20.69±13.95) mmHg vs.(12.91±6.89) mmHg] and the decrease of ineffective swallowing [9.15±6.44 vs. 11.25±2.04](both P<0.05), while such results of Dor group were similar to Nissen group[(19.87±10.40) mmHg, 6.15±2.95, all P>0.05]. The GERD Q scores were significantly decreased after operation in 3 groups(Nissen group:10.94±2.20 vs.7.41±1.43, t=11.667, P=0.001; Toupet group: 10.91±2.02 vs.7.18±1.33, t=5.109, P=0.005; Dor group: 10.69±1.69 vs. 7.10±1.30, t=7.610, P=0.002). There was no significant difference in GERD Q scores among three groups (F=1.465, P=0.207). The operative time, blood loss, hospital stay and complications were not significantly different among 3 groups (all P>0.05). Follow-up period was 12-51 months (median 19 months), and no significant difference in recurrence was found [Nissen group: 2 cases (1.3%), Toupet group: 1 case (2.4%), Dor group: 1 case (1.2%), χ(2)=0.363, P=0.834].
CONCLUSIONS: It is safe and feasible for these three laparoscopic fundoplications to the treatment of hiatal hernia complicated with GERD. But laparoscopic Nissen and Dor fundoplication are better than Toupet fundoplication in reducing the number of reflux episodes, suppressing long reflux, increasing lower esophageal sphincter pressure (mean resting respiration) and decreasing the incidence of postoperative dysphagia.
PMID: 27680070 [PubMed - as supplied by publisher]
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Double-layered covered stent for the treatment of malignant oesophageal obstructions: Systematic review and meta-analysis.
Double-layered covered stent for the treatment of malignant oesophageal obstructions: Systematic review and meta-analysis.
World J Gastroenterol. 2016 Sep 14;22(34):7841-50
Authors: Hussain Z, Diamantopoulos A, Krokidis M, Katsanos K
Abstract
AIM: To investigate the efficacy of double-layered covered stent in the treatment of malignant oesophageal obstructions.
METHODS: A systematic review and meta-analysis was performed following the PRISMA process. PubMed (Medline), EMBASE (Excerpta Medical Database), AMED (Allied and Complementary medicine Database), Scopus and online content, were searched for studies reporting on the NiTi-S polyurethane-covered double oesophageal stent for the treatment of malignant dysphagia. Weighted pooled outcomes were synthesized with a random effects model to account for clinical heterogeneity. All studies reporting the outcome of palliative management of dysphagia due to histologically confirmed malignant oesophageal obstruction using double-layered covered nitinol stent were included. The level of statistical significance was set at α = 0.05.
RESULTS: Six clinical studies comprising 250 patients in total were identified. Pooled technical success of stent insertion was 97.2% (95%CI: 94.8%-98.9%; I (2) = 5.8%). Pooled complication rate was 27.6% (95%CI: 20.7%-35.2%; I (2) = 41.9%). Weighted improvement of dysphagia on a scale of 0-5 scoring system was -2.00 [95%CI: -2.29%-(-1.72%); I (2) = 87%]. Distal stent migration was documented in 10 out of the 250 cases examined. Pooled stent migration rate was 4.7% (95%CI: 2.5%-7.7%; I (2) = 0%). Finally, tumour overgrowth was reported in 34 out of the 250 cases with pooled rate of tumour overgrowth of 11.2% (95%CI: 3.7%-22.1%; I (2) = 82.2%). No funnel plot asymmetry to suggest publication bias (bias = 0.39, P = 0.78). In the sensitivity analysis all results were largely similar between the fixed and random effects models.
CONCLUSION: The double-layered nitinol stent provides immediate relief of malignant dysphagia with low rates of stent migration and tumour overgrowth.
PMID: 27678367 [PubMed - in process]
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Kinematic Visual Biofeedback Improves Accuracy of Learning a Swallowing Maneuver and Accuracy of Clinician Cues During Training.
Kinematic Visual Biofeedback Improves Accuracy of Learning a Swallowing Maneuver and Accuracy of Clinician Cues During Training.
Dysphagia. 2016 Sep 28;
Authors: Azola AM, Sunday KL, Humbert IA
Abstract
Submental surface electromyography (ssEMG) visual biofeedback is widely used to train swallowing maneuvers. This study compares the effect of ssEMG and videofluoroscopy (VF) visual biofeedback on hyo-laryngeal accuracy when training a swallowing maneuver. Furthermore, it examines the clinician's ability to provide accurate verbal cues during swallowing maneuver training. Thirty healthy adults performed the volitional laryngeal vestibule closure maneuver (vLVC), which involves swallowing and sustaining closure of the laryngeal vestibule for 2 s. The study included two stages: (1) first accurate demonstration of the vLVC maneuver, followed by (2) training-20 vLVC training swallows. Participants were randomized into three groups: (a) ssEMG biofeedback only, (b) VF biofeedback only, and (c) mixed biofeedback (VF for the first accurate demonstration achieving stage and ssEMG for the training stage). Participants' performances were verbally critiqued or reinforced in real time while both the clinician and participant were observing the assigned visual biofeedback. VF and ssEMG were continuously recorded for all participants. Results show that accuracy of both vLVC performance and clinician cues was greater with VF biofeedback than with either ssEMG or mixed biofeedback (p < 0.001). Using ssEMG for providing real-time biofeedback during training could lead to errors while learning and training a swallowing maneuver.
PMID: 27677733 [PubMed - as supplied by publisher]
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Improved Functional Results After Minimally Invasive Esophagectomy: Intrathoracic Versus Cervical Anastomosis.
Improved Functional Results After Minimally Invasive Esophagectomy: Intrathoracic Versus Cervical Anastomosis.
Ann Thorac Surg. 2016 Sep 24;
Authors: van Workum F, van der Maas J, van den Wildenberg FJ, Polat F, Kouwenhoven EA, van Det MJ, Nieuwenhuijzen GA, Luyer MD, Rosman C
Abstract
BACKGROUND: Both cervical esophagogastric anastomosis (CEA) and intrathoracic esophagogastric anastomosis (IEA) are used to restore gastrointestinal integrity following minimally invasive esophagectomy (MIE). No prospective randomized data on functional outcome, postoperative morbidity, and mortality between these techniques are currently available.
METHODS: A comparison was conducted including all consecutive patients with esophageal carcinoma of the distal esophagus or gastroesophageal junction undergoing MIE with CEA or MIE with IEA from October 2009 to July 2014 in 3 high-volume esophageal cancer centers. Functional outcome, postoperative morbidity, and mortality were analyzed.
RESULTS: MIE with CEA was performed in 146 patients and MIE with IEA in 210 patients. The incidence of recurrent laryngeal nerve palsy was 14.4% after CEA and 0% after IEA (p < 0.001). Dysphagia, dumping, and regurgitation were reported less frequently after IEA compared with CEA (p < 0.05). Dilatation of benign strictures occurred in 43.8% after CEA and this was 6.2% after IEA (p < 0.001). If a benign stricture was identified, it was dilated a median of 4 times in the CEA group and only once in the IEA group (p < 0.001). Anastomotic leakage for which reoperation was required occurred in 8.2% after CEA and in 11.4% after IEA (not significant). Median ICU stay, hospital stay, in-hospital mortality, 30-day mortality, and 90-day mortality were similar between the groups (not significant).
CONCLUSIONS: MIE with IEA was associated with better functional results than MIE with CEA with less dysphagia, less benign anastomotic strictures requiring fewer dilatations, and a lower incidence of recurrent laryngeal nerve palsy. Other postoperative morbidity and mortality did not differ between the groups.
PMID: 27677565 [PubMed - as supplied by publisher]
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Risk factors for Barrett's esophagus: a scoping review.
Related Articles |
Risk factors for Barrett's esophagus: a scoping review.
Cancer Causes Control. 2016 Mar;27(3):301-23
Authors: Ireland CJ, Thompson SK, Laws TA, Esterman A
Abstract
INTRODUCTION: Cancer of the esophagus is a highly lethal disease with many patients presenting with metastatic spread of their tumor at diagnosis; a consequence of this late presentation is the 5-year survival rate of <20 %. Barrett's esophagus (BE), a premalignant condition of the distal esophagus, is the main risk factor for adenocarcinoma of the esophagus. The development of a risk prediction tool that could assist healthcare professionals in identifying people at increased risk of developing BE would be advantageous. Understanding the factors that influence the risk of developing BE is the first stage of developing a risk prediction tool.
METHODS: A scoping review was undertaken to address the following question 'what factors influence the risk of developing Barrett's esophagus?' Forty-six articles were included in this review.
RESULTS: The majority of articles reviewed were case-control or cohort studies. Samples sizes ranged from 68 to 84,606. Risk factors reported to be statistically significant were divided into three categories: demographic, lifestyle and clinical factors. Strongest risk factors identified include: male gender, increasing age, white race, smoking, obesity and gastro-esophageal reflux disease symptoms, while some aspects of a person's diet appear to act as a protective measure.
CONCLUSION: Risk factors for BE are complex and need to be considered by healthcare professionals when identifying patients that could benefit from endoscopic eradication. These results provide a stepping stone for the future development of a risk prediction model.
PMID: 26847374 [PubMed - indexed for MEDLINE]
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Achalasia: new perspectives on an old disease.
Related Articles |
Achalasia: new perspectives on an old disease.
Neurogastroenterol Motil. 2016 Jan;28(1):4-11
Authors: Gyawali CP
Abstract
Achalasia is defined by esophageal outflow obstruction from abnormal relaxation of the lower esophageal sphincter (LES) due to deranged inhibitory control. In genetically predisposed individuals, an autoimmune response to an unknown inciting agent, perhaps a viral infection, results in inflammation and sometimes loss of myenteric plexus ganglia and neurons. The net result is varying degrees of inhibitory dysfunction, at times associated with imbalanced and exaggerated excitatory function, with manometrically distinct achalasia phenotypes on high resolution manometry. There is new evidence in the current issue of this Journal suggesting that type 1 achalasia, with esophageal outflow obstruction and absent esophageal body contractility, is an end-stage phenotype from progression of type 2 achalasia, which is characterized by panesophageal compartmentalization of pressure in the untreated patient, and partial recovery of peristalsis after treatment. Esophageal outflow obstruction with premature peristalsis (type 3 achalasia) or intact peristalsis may result from plexitis in the myenteric plexus but can also be encountered in other settings including chronic opioid medication usage and structural processes at the esophagogastric junction and distally. In most instances when idiopathic esophageal outflow obstruction is confirmed, some form of pharmacologic manipulation or disruption of the LES provides durable symptom relief. This review will focus on current understanding of pathophysiology, diagnosis, and principles of management of achalasia in light of emerging literature on the topic.
PMID: 26690870 [PubMed - indexed for MEDLINE]
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The Role of Co-Morbidities.
Related Articles |
The Role of Co-Morbidities.
Curr Probl Pediatr Adolesc Health Care. 2016 Jan;46(1):7-10
Authors: Konstantinopoulou S, Sideris GA, DelRosso LM
Abstract
Medical conditions can impact sleep and breathing in children. Gastroesophageal reflux disease, allergic rhinitis and asthma are common in children and often coexist with obstructive sleep apnea. Appropriate identification and management of these conditions can improve nocturnal and diurnal symptoms of sleep disordered breathing. We discuss the relationship between these medical conditions and obstructive sleep apnea in children.
PMID: 26655046 [PubMed - indexed for MEDLINE]
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Oropharyngeal dysphagia in older persons - from pathophysiology to adequate intervention: a review and summary of an international expert meeting.
Related Articles |
Oropharyngeal dysphagia in older persons - from pathophysiology to adequate intervention: a review and summary of an international expert meeting.
Clin Interv Aging. 2016;11:189-208
Authors: Wirth R, Dziewas R, Beck AM, Clavé P, Hamdy S, Heppner HJ, Langmore S, Leischker AH, Martino R, Pluschinski P, Rösler A, Shaker R, Warnecke T, Sieber CC, Volkert D
Abstract
Oropharyngeal dysphagia (OD) is a highly prevalent and growing condition in the older population. Although OD may cause very severe complications, it is often not detected, explored, and treated. Older patients are frequently unaware of their swallowing dysfunction which is one of the reasons why the consequences of OD, ie, aspiration, dehydration, and malnutrition, are regularly not attributed to dysphagia. Older patients are particularly vulnerable to dysphagia because multiple age-related changes increase the risk of dysphagia. Physicians in charge of older patients should be aware that malnutrition, dehydration, and pneumonia are frequently caused by (unrecognized) dysphagia. The diagnosis is particularly difficult in the case of silent aspiration. In addition to numerous screening tools, videofluoroscopy was the traditional gold standard of diagnosing OD. Recently, the fiberoptic endoscopic evaluation of swallowing is increasingly utilized because it has several advantages. Besides making a diagnosis, fiberoptic endoscopic evaluation of swallowing is applied to evaluate the effectiveness of therapeutic maneuvers and texture modification of food and liquids. In addition to swallowing training and nutritional interventions, newer rehabilitation approaches of stimulation techniques are showing promise and may significantly impact future treatment strategies.
PMID: 26966356 [PubMed - indexed for MEDLINE]
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Treatment of periorbital wrinkles using multipolar fractional radiofrequency in Korean patients
Abstract
A limited number of studies have evaluated the efficacy and safety of electrode pin fractional radiofrequency (FRF) for periorbital wrinkle treatment in Asian patients, but none have measured noninvasive methodological objective parameters such as periorbital wrinkle area. This study aimed to investigate the efficacy and safety of electrode pin multipolar FRF for the improvement of periorbital wrinkles in Korean patients by using a noninvasive methodological objective parameter. Seventy female subjects with periorbital wrinkles (age range, 40–60 years) participated in this study. Each patient underwent three sessions of FRF treatment to the periorbital region separated by 2-week intervals. The area of periorbital wrinkles was analyzed by using a Robo Skin Analyzer CS50 at 4 weeks after the final treatment session. Periorbital wrinkle area was significantly decreased at 1-month follow-up (75.77 ± 29.46 mm2) compared to baseline (94.74 ± 31.62 mm2). The improvement ratio of periorbital wrinkle area was 20.02 %. Side effects were limited to transient mild erythema, swelling, and crusts. Pain was tolerable without local anesthesia. Our findings suggest that the multipolar electrode pin FRF can be an effective and safe method for reducing periorbital wrinkles in Asian patients.
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GeneReviews(®)
Related Articles |
GeneReviews(®)
Book. 1993
Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K
Abstract
CLINICAL CHARACTERISTICS: Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
DIAGNOSIS/TESTING: The diagnosis of XP is made on the basis of clinical findings and family history and/or by the identification of biallelic pathogenic variants in DDB2, ERCC1,ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC.
MANAGEMENT: Treatment of manifestations: Small, premalignant skin lesions such as actinic keratoses can be treated by freezing with liquid nitrogen; larger areas can be treated with field treatments such as topical 5-fluorouracil or imiquimod. Rarely, therapeutic dermatome shaving or dermabrasion has been used; skin neoplasms can be treated (as in persons without XP) with electrodesiccation and curettage, or surgical excision; skin cancers that are recurrent or in locations at high risk for recurrence are best treated with Mohs micrographic surgery. Oral isotretinoin or acitretin can prevent new skin neoplasms but have many side effects. Neoplasms of the eyelids, conjunctiva, and cornea can be treated surgically; corneal transplantation may improve the visual impairment resulting from severe keratitis. Hearing loss may be treated with hearing aids. Prevention of primary manifestations: Avoid sun and other UV exposure to the skin and eyes; measurement of UV light with a light meter in an affected individual's home, school, and/or work environment so that high levels of environmental UV can be identified and eliminated. Prevention of secondary complications: Dietary supplementation with oral vitamin D as needed. Surveillance: Skin examinations by a physician every three to 12 months; periodic routine eye and neurologic examinations and audiograms. Agents/circumstances to avoid: UV exposure from sunlight and artificial sources of UV radiation, cigarette smoke. Evaluation of relatives at risk: If family-specific pathogenic variants have been identified, molecular genetic testing of at-risk sibs can permit early diagnosis and rigorous sun protection from an early age. Pregnancy management: Systemic retinoids (isotretinoin, acitretin) may be used as skin cancer chemopreventive agents. These drugs are known to be teratogenic to a developing fetus and pose a high risk for birth defects. Women of reproductive age who are taking a systemic retinoid must use effective contraception and be monitored with regular pregnancy tests.
GENETIC COUNSELING: XP is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the pathogenic variants have been identified in an affected family member, carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible options.
PMID: 20301571
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GeneReviews(®)
Related Articles |
GeneReviews(®)
Book. 1993
Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K
Abstract
CLINICAL CHARACTERISTICS: Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
DIAGNOSIS/TESTING: The diagnosis of XP is made on the basis of clinical findings and family history and/or by the identification of biallelic pathogenic variants in DDB2, ERCC1,ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC.
MANAGEMENT: Treatment of manifestations: Small, premalignant skin lesions such as actinic keratoses can be treated by freezing with liquid nitrogen; larger areas can be treated with field treatments such as topical 5-fluorouracil or imiquimod. Rarely, therapeutic dermatome shaving or dermabrasion has been used; skin neoplasms can be treated (as in persons without XP) with electrodesiccation and curettage, or surgical excision; skin cancers that are recurrent or in locations at high risk for recurrence are best treated with Mohs micrographic surgery. Oral isotretinoin or acitretin can prevent new skin neoplasms but have many side effects. Neoplasms of the eyelids, conjunctiva, and cornea can be treated surgically; corneal transplantation may improve the visual impairment resulting from severe keratitis. Hearing loss may be treated with hearing aids. Prevention of primary manifestations: Avoid sun and other UV exposure to the skin and eyes; measurement of UV light with a light meter in an affected individual's home, school, and/or work environment so that high levels of environmental UV can be identified and eliminated. Prevention of secondary complications: Dietary supplementation with oral vitamin D as needed. Surveillance: Skin examinations by a physician every three to 12 months; periodic routine eye and neurologic examinations and audiograms. Agents/circumstances to avoid: UV exposure from sunlight and artificial sources of UV radiation, cigarette smoke. Evaluation of relatives at risk: If family-specific pathogenic variants have been identified, molecular genetic testing of at-risk sibs can permit early diagnosis and rigorous sun protection from an early age. Pregnancy management: Systemic retinoids (isotretinoin, acitretin) may be used as skin cancer chemopreventive agents. These drugs are known to be teratogenic to a developing fetus and pose a high risk for birth defects. Women of reproductive age who are taking a systemic retinoid must use effective contraception and be monitored with regular pregnancy tests.
GENETIC COUNSELING: XP is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the pathogenic variants have been identified in an affected family member, carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible options.
PMID: 20301571
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To image or not to image? A cost-effectiveness analysis of MRI for patients with asymmetric sensorineural hearing loss
Objectives/Hypothesis
Our objective was to perform an economic analysis evaluating whether ordering a magnetic resonance imaging (MRI) is a cost-effective practice in the workup of undifferentiated asymmetric sensorineural hearing loss (ASNHL). Use of T1 gadolinium-weighted MR (GdT1W) and T2 weighted MR without contrast (T2MR) was each examined.
Methods
The incremental cost-effectiveness ratio (ICER) of MR imaging among ASNHL patients was evaluated using a decision tree. We calculated what the probability of having a cerebellopontine angle/internal auditory canal lesion would have to be to make MR more cost-effective than observation. The decision pathways included observation, GdT1W, and T2MR. The probability of detecting a lesion and associated costs were employed in constructing our tree. Missing a mass in the observation branch was considered to have an effectiveness of 0. The costs and probabilities were extracted from previously published studies.
Results
The ICERs of pursuing GdT1W and T2MR were $27,660 and $15,943, respectively, both below the widely accepted willingness to pay (WTP) thresholds of $30,000 and $50,000. Probabilistic sensitivity analysis with Monte Carlo simulations for GdT1W showed that it is more cost-effective than no imaging, with 54.4% and 83.5% certainty at $30,000 and $50,000 WTP thresholds. Probabilistic sensitivity analysis with Monte Carlo simulations for T2MR showed that it is more cost-effective than no imaging, with 75.2% and 92.6% certainty at $30,000 and $50,000 WTP thresholds.
Conclusion
This economic evaluation strongly supports pursuing MRI in patients with documented ASNHL as a cost-effective strategy. Both GdT1W and T2MR are more cost-effective than observation. Furthermore, noncontrast T2 imaging may be the more cost-effective modality of these two techniques.
Level of Evidence
2c. Laryngoscope, 2016
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The effect of oral positioning on the hypopharyngeal airway
Objectives
It is generally assumed that mouth opening decreases the hypopharyngeal cross-sectional area (HA) and that tongue protrusion (TP) increases the HA. We hypothesize that a substantial number of patients do not exhibit this expected pattern.
Study Design
Prospective cohort conducted at a tertiary academic center.
Methods
With a flexible fiberoptic scope in position, the hypopharyngeal airway was visualized and assessed in 189 patients with the mouth closed. Patients were then asked to open the mouth with the tongue in neutral position (MOTN) to determine the effect on the airway. The same methodology was used to compare the airway with the MOTN versus TP. Basic demographics, including age, gender, body mass index, and presence and severity of obstructive sleep apnea (OSA), were collected. Student t test, Mantel-Haenszel chi-square, and Cochran-Armitage analyses were assessed for significant relationships and trends with oral positions.
Results
Although mean HA decreased with MOTN (P < 0.0001), 33% of patients exhibited an increase in HA. Similarly, mean HA increased with TP (P = 0.0018); however, 38% of patients demonstrated a decrease in HA. There was no significant relationship in HA between OSA and non-OSA patients. For those with OSA, increasing severity trended toward a higher incidence of smaller HA with TP (P = 0.038).
Conclusion
The airway is typically most obstructed with mouth opening (MOTN) and most patent with tongue protrusion (TP). Nevertheless, hypopharyngeal changes with MOTN and TP followed a paradoxical pattern in one-third of our population. This may have implications in patient selection for targeted OSA treatment.
Level of Evidence
IV. Laryngoscope, 2016
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May cannabinoids prevent the development of chemotherapy-induced diarrhea and intestinal mucositis? Experimental study in the rat
Abstract
Background
The antineoplastic drug 5-fluoruracil (5-FU) is a pirimidine analog, which frequently induces potentially fatal diarrhea and mucositis. Cannabinoids reduce gastrointestinal motility and secretion and might prevent 5-FU-induced gut adverse effects. Here, we asked whether cannabinoids may prevent diarrhea and mucositis induced by 5-FU in the rat.
Methods
Male Wistar rats received vehicle or the non-selective cannabinoid agonist WIN 55,212-2 (WIN; 0.5 mg kg−1 injection−1, 1 injection day−1, 4 consecutive days) by intraperitoneal (ip) route; on the first 2 days, animals received also saline or 5-FU (150 mg kg−1 injection−1, cumulative dose of 300 mg kg−1). Gastrointestinal motor function was radiographically studied after barium contrast intragastric administration on experimental days 1 and 4. Structural alterations of the stomach, small intestine and colon were histologically studied on day 4. PAS staining and immunohistochemistry for Ki67, chromogranin A and CD163 were used to detect secretory, proliferating, and endocrine cells, and activated macrophages respectively.
Key Results
As shown radiographically, 5-FU induced significant gastric emptying delay (on days 1 and 4) and diarrhea (on day 4). WIN did not significantly alter the motility curves obtained for either control or 5-FU-treated animals but tended to reduce the severity of 5-FU-induced diarrhea and increased permanence of barium from day 1 to the beginning of day 4 in 5-FU-treated animals. 5-FU-induced mucositis was severe and not counteracted by WIN.
Conclusions and Inferences
5-FU-induced diarrhea, but not mucositis, was partly prevented by WIN at a low dose. Cannabinoids might be useful to prevent chemotherapy-induced diarrhea.
In this article, we have characterized the effects of the antineoplastic drug 5-fluorouracil using X-rays and conventional histology in the rat, and have evaluated whether cannabinoids might be useful for treating 5-FU-induced diarrhea. A low dose of the non-selective cannabinoid agonist WIN partially prevented the development of diarrhea, probably through actions on motility, but did not prevent 5-FU-induced mucositis. This is the first experimental study on the effects of cannbinoids on chemotherapy-induced diarrhea.
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Treatment outcome of vocal cord leukoplakia by transoral laser microsurgery
Abstract
The aim of this study is to evaluate the treatment outcome and analyze the associated factors of postoperative recurrence in patients who received transoral laser microsurgery for vocal cord leukoplakia. The demographic, histopathological data were retrospectively reviewed and the factors associated with recurrence of vocal leukoplakia after surgery were analyzed statistically. A total of 44 patients, including 36 males and 8 females, with a mean age of 50.4 ± 13.4 years, were enrolled. All the patients received excision of the vocal leukoplakia by carbon dioxide laser (2–4 Watt, ultrapulse mode) under general anesthesia. No patients had malignant transformation after surgery. Postoperative recurrence occurred in 10 patients (22.7 %). Univariate analysis showed that patients who had the habit of cigarette smoking, alcohol drinking, and presence of gastroesophageal reflux disease tended to recur. Among these risk factors, presence of gastroesophageal reflux disease (odds ratio 8.43) was the independent prognostic factor for recurrence using multivariate logistic regression analysis. Carbon dioxide laser excision is effective for treating vocal leukoplakia that is still confined to dysplasia of any degree, with acceptable morbidity. This study suggests that the presence of gastroesophageal reflux disease is the prognostic indicator for postoperative recurrence of vocal leukoplakia. Aggressive treatment of reflux disease for those who have received surgical excision for vocal leukoplakia is indicated.
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Language Development of Three- to Twelve-Year-Old Twins Compared to Singletons
Folia Phoniatr Logop 2016;68:92-98
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The effect of CPAP treatment on venous lactate and arterial blood gas among obstructive sleep apnea syndrome patients
Abstract
Purpose
The aim of this observational study was to investigate the influence of continuous positive airway pressure (CPAP) on arterial blood gas and venous lactate, markers of tissue hypoxia, among obstructive sleep apnea syndrome (OSAS) patients, and determine the risk factor of serum lactate and hydrogen ion concentration (PH) in OSAS patients.
Materials and methods
One-hundred and nine patients with newly diagnosed OSAS were enrolled in the study. All individuals were treated with CPAP for one night. Venous lactate and arterial blood gas were gathered from all subjects in the morning at the end of polysomnography and the next morning after CPAP treatment.
Results
Of the 109 selected subjects, the average lactate level was 2.23 ± 0.59 mmol/L, and the mean PH, PaO2, and PaCO2 were 7.380 ± 0.23, 88.14 ± 17.83 mmHg, and 38.70 ± 4.28 mmHg, respectively. Compared to baseline, lactic acid significantly decreased (2.10 ± 0.50 mmol/L, p = 0.03), while PH increased (7.388 ± 0.27, p < 0.05) after CPAP treatment. In addition, neck circumference and the polysomnographic parameters, including apnea-hypopnea index, oxygen desaturation index (ODI), mean oxygen saturation (SpO2), and the percentage of sleep time with SpO2 <90 % (TS90 %), positively correlated with lactate, while age correlated negatively with lactate (all p < 0.05). Significantly positive associations were found between age, neck circumference, and PH; furthermore, a negative correlation was found between ODI and PH. Finally, after adjusting for confounding factors, TS90 % was the major contributing predictor for elevated lactate (p < 0.05), and age was a predictor for an increase in PH (p < 0.05).
Conclusions
The results indicated that CPAP treatment could reduce serum lactate and increase PH in OSAS patients and might alleviate acid-base balance disorders in OSAS. Furthermore, TS90 % was a risk factor for elevated lactate, and age was independently associated with PH.
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Πέμπτη 29 Σεπτεμβρίου 2016
The effect of CPAP treatment on venous lactate and arterial blood gas among obstructive sleep apnea syndrome patients
Abstract
Purpose
The aim of this observational study was to investigate the influence of continuous positive airway pressure (CPAP) on arterial blood gas and venous lactate, markers of tissue hypoxia, among obstructive sleep apnea syndrome (OSAS) patients, and determine the risk factor of serum lactate and hydrogen ion concentration (PH) in OSAS patients.
Materials and methods
One-hundred and nine patients with newly diagnosed OSAS were enrolled in the study. All individuals were treated with CPAP for one night. Venous lactate and arterial blood gas were gathered from all subjects in the morning at the end of polysomnography and the next morning after CPAP treatment.
Results
Of the 109 selected subjects, the average lactate level was 2.23 ± 0.59 mmol/L, and the mean PH, PaO2, and PaCO2 were 7.380 ± 0.23, 88.14 ± 17.83 mmHg, and 38.70 ± 4.28 mmHg, respectively. Compared to baseline, lactic acid significantly decreased (2.10 ± 0.50 mmol/L, p = 0.03), while PH increased (7.388 ± 0.27, p < 0.05) after CPAP treatment. In addition, neck circumference and the polysomnographic parameters, including apnea-hypopnea index, oxygen desaturation index (ODI), mean oxygen saturation (SpO2), and the percentage of sleep time with SpO2 <90 % (TS90 %), positively correlated with lactate, while age correlated negatively with lactate (all p < 0.05). Significantly positive associations were found between age, neck circumference, and PH; furthermore, a negative correlation was found between ODI and PH. Finally, after adjusting for confounding factors, TS90 % was the major contributing predictor for elevated lactate (p < 0.05), and age was a predictor for an increase in PH (p < 0.05).
Conclusions
The results indicated that CPAP treatment could reduce serum lactate and increase PH in OSAS patients and might alleviate acid-base balance disorders in OSAS. Furthermore, TS90 % was a risk factor for elevated lactate, and age was independently associated with PH.
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Differentiation of five enterohepatic Helicobacter species by nested PCR with high-resolution melting curve analysis
Abstract
Background
Enterohepatic Helicobacter species (EHS) are widespread in rodent species around the world. Several studies have demonstrated that infection with EHS can interfere with the outcomes of animal experiments in cancer research and significantly influence the study results. Therefore, it is essential to establish a rapid detection and identification of EHS for biomedical research using laboratory rodents. Our study aimed to develop a rapid and sensitive method to detect and distinguish five enterohepatic Helicobacter species.
Materials and Methods
Nested PCR followed by high-resolution melting curve analysis (HRM) was developed for identification of H. bilis, H. rodentium, H. muridarum, H. typhlonius, as well as H. hepaticus. To validate the accuracy of nested PCR-HRM analysis, quantitative real-time PCR methods for five different enterohepatic Helicobacter species were developed. A total of 50 cecal samples were tested using both nested PCR-HRM analysis and qPCR method.
Results
The nested PCR-HRM method could distinguish five enterohepatic Helicobacter species by different melting temperatures. The melting curve were characterized by peaks of 78.7 ± 0.12°C for H. rodentium, 80.51 ± 0.09°C for H. bilis, 81.6 ± 0.1°C for H. typhlonius, 82.11 ± 0.18°C for H. muridarum, and 82.95 ± 0.09°C for H. hepaticus.
Conclusions
The nested PCR-HRM assay is a simple, rapid, and cost-effective assay. This assay could be a useful tool for molecular epidemiology study of enterohepatic Helicobacter infection and an attractive alternative for genotyping of enterohepatic Helicobacter species.
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Transient receptor potential vanilloid 4 (TRPV4) silencing in Helicobacter pylori-infected human gastric epithelium
Abstract
Background
Helicobacter pylori (HP) infection induces methylation silencing of specific genes in gastric epithelium. Various stimuli activate the nonselective cation channel TRPV4, which is expressed in gastric epithelium where it detects mechanical stimuli and promotes ATP release. As CpG islands in TRPV4 are methylated in HP-infected gastric epithelium, we evaluated HP infection-dependent changes in TRPV4 expression in gastric epithelium.
Materials and Methods
Human gastric biopsy samples, a human gastric cancer cell line (AGS), and a normal gastric epithelial cell line (GES-1) were used to detect TRPV4 mRNA and protein expression by RT-PCR and Western blotting, respectively. Ca2+ imaging was used to evaluate TRPV4 ion channel activity. TRPV4 methylation status was assessed by methylation-specific PCR (MSP). ATP release was measured by a luciferin-luciferase assay.
Results
TRPV4 mRNA and protein were detected in human gastric biopsy samples and in GES-1 cells. MSP and demethylation assays showed TRPV4 methylation silencing in AGS cells. HP coculture directly induced methylation silencing of TRPV4 in GES-1 cells. In human samples, HP infection was associated with TRPV4 methylation silencing that recovered after HP eradication in a time-dependent manner.
Conclusion
HP infection-dependent DNA methylation suppressed TRPV4 expression in human gastric epithelia, suggesting that TRPV4 methylation may be involved in HP-associated dyspepsia.
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Differentiation of five enterohepatic Helicobacter species by nested PCR with high-resolution melting curve analysis
Abstract
Background
Enterohepatic Helicobacter species (EHS) are widespread in rodent species around the world. Several studies have demonstrated that infection with EHS can interfere with the outcomes of animal experiments in cancer research and significantly influence the study results. Therefore, it is essential to establish a rapid detection and identification of EHS for biomedical research using laboratory rodents. Our study aimed to develop a rapid and sensitive method to detect and distinguish five enterohepatic Helicobacter species.
Materials and Methods
Nested PCR followed by high-resolution melting curve analysis (HRM) was developed for identification of H. bilis, H. rodentium, H. muridarum, H. typhlonius, as well as H. hepaticus. To validate the accuracy of nested PCR-HRM analysis, quantitative real-time PCR methods for five different enterohepatic Helicobacter species were developed. A total of 50 cecal samples were tested using both nested PCR-HRM analysis and qPCR method.
Results
The nested PCR-HRM method could distinguish five enterohepatic Helicobacter species by different melting temperatures. The melting curve were characterized by peaks of 78.7 ± 0.12°C for H. rodentium, 80.51 ± 0.09°C for H. bilis, 81.6 ± 0.1°C for H. typhlonius, 82.11 ± 0.18°C for H. muridarum, and 82.95 ± 0.09°C for H. hepaticus.
Conclusions
The nested PCR-HRM assay is a simple, rapid, and cost-effective assay. This assay could be a useful tool for molecular epidemiology study of enterohepatic Helicobacter infection and an attractive alternative for genotyping of enterohepatic Helicobacter species.
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Transient receptor potential vanilloid 4 (TRPV4) silencing in Helicobacter pylori-infected human gastric epithelium
Abstract
Background
Helicobacter pylori (HP) infection induces methylation silencing of specific genes in gastric epithelium. Various stimuli activate the nonselective cation channel TRPV4, which is expressed in gastric epithelium where it detects mechanical stimuli and promotes ATP release. As CpG islands in TRPV4 are methylated in HP-infected gastric epithelium, we evaluated HP infection-dependent changes in TRPV4 expression in gastric epithelium.
Materials and Methods
Human gastric biopsy samples, a human gastric cancer cell line (AGS), and a normal gastric epithelial cell line (GES-1) were used to detect TRPV4 mRNA and protein expression by RT-PCR and Western blotting, respectively. Ca2+ imaging was used to evaluate TRPV4 ion channel activity. TRPV4 methylation status was assessed by methylation-specific PCR (MSP). ATP release was measured by a luciferin-luciferase assay.
Results
TRPV4 mRNA and protein were detected in human gastric biopsy samples and in GES-1 cells. MSP and demethylation assays showed TRPV4 methylation silencing in AGS cells. HP coculture directly induced methylation silencing of TRPV4 in GES-1 cells. In human samples, HP infection was associated with TRPV4 methylation silencing that recovered after HP eradication in a time-dependent manner.
Conclusion
HP infection-dependent DNA methylation suppressed TRPV4 expression in human gastric epithelia, suggesting that TRPV4 methylation may be involved in HP-associated dyspepsia.
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Molecular diagnosis and immunotherapy.
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Trends in medical malpractice claims in patients with cleft or craniofacial abnormalities in the United States
Source:International Journal of Pediatric Otorhinolaryngology, Volume 90
Author(s): Rounak B. Rawal, Lauren A. Kilpatrick, Jeyhan S. Wood, Amelia F. Drake
ObjectiveTo describe medical malpractice trends in patients with cleft and/or craniofacial abnormalities.Methods and materialsA modified Delphi approach was used to gather search terms. Search settings included "all jury verdicts and settlements", with jurisdiction of "all states" and "all federal courts" (by court and circuit). A retrospective review of WestLawNext legal database was conducted. Cases were excluded if they did not have a direct association from the patient's craniofacial anomaly or if they were not related to malpractice.ResultsForty-two cases met inclusion criteria. Cases closed between 1981 and 2014 were included. The mean payment among claims with an indemnity payment was $3.9 million. Of cases brought to trial, 62% were in favor of the plaintiff. Amongst physicians named as co-defendants, pediatricians were most commonly named (24%), followed by plastic surgeons (16%), obstetricians (7.8%), and radiologists (7.8%). "Missed diagnosis" was the most common type of negligent claim (45%), followed by "surgical error" (21%), and "medication error" (17%). "Anoxic brain injury" resulted in the highest median indemnity payment for complication of patient management ($3.5 million), followed by "wrongful birth" ($1.03 million), and "minor physical injury" ($520,000). No specific type of negligent claim (p = 0.764) nor complication of patient management (p = 0.61) was associated with a greater indemnity payment. Mean indemnity payment was $920,000 prior to 2001 and $4.4 million after 2001 (p = 0.058).ConclusionsMean indemnity payments were fourteen-fold greater in patients as compared to those in the overall population ($3.9 million versus $274,887) and seven-fold greater than those in the average pediatric population ($3.9 million versus $520,923). All healthcare providers should be aware of the associated medical malpractice claims that may be incurred when treating patients at risk for these conditions.
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Early surgical intervention in type I laryngeal cleft
Publication date: November 2016
Source:International Journal of Pediatric Otorhinolaryngology, Volume 90
Author(s): Kristine E. Day, Nicholas J. Smith, Brian D. Kulbersh
ObjectiveDiagnosis and treatment of type 1 laryngeal clefts remains a challenge. The purpose of this study is to determine if early surgical intervention in type I laryngeal clefts improves outcomes.MethodsA retrospective case series was conducted at an academic tertiary care children's hospital. 18 children undergoing early (≤3 months from diagnosis) surgical intervention for type I laryngeal cleft repair between August of 2012 and December 2014. Data was compiled through a manual chart review.Results18 children who underwent early surgical intervention for type I laryngeal cleft repair were identified for review. 14 (78%) were male and 4 (22%) were female and the average age at time of repair was 1.6 years. Most frequent presenting symptoms included dysphagia (61%) and recurrent respiratory issues (22%). Successful swallowing outcomes, defined as subjective improvement (i.e. absence of previous symptoms) per parental report in follow-up visits, +/− normal post-operative MBS (modified barium swallow) findings, was seen in 11 patients (61%). 9 patients required hospitalization for respiratory issues prior to surgical repair. Post-operatively, 4 patients still incurred an admission for respiratory reasons.ConclusionsOur series shows a success rate of 61% with early surgical intervention (≤3 months from diagnosis). A decrease in post-operative hospitalizations is appreciated.
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