Serum zinc levels in 368 patients with oral mucosal diseases: A preliminary study.

Serum zinc levels in 368 patients with oral mucosal diseases: A preliminary study.

Med Oral Patol Oral Cir Bucal. 2016 Mar 31;:0

Authors: Bao ZX, Yang XW, Shi J, Liu LX

Abstract
BACKGROUND: The aim of this study was to assess the serum zinc levels in patients with common oral mucosal diseases by comparing these to healthy controls.
MATERIAL AND METHODS: A total of 368 patients, which consisted of 156 recurrent aphthous stomatitis (RAS) patients, 57 oral lichen planus (OLP) patients, 55 burning mouth syndrome (BMS) patients, 54 atrophic glossitis (AG) patients, 46 xerostomia patients, and 115 sex-and age-matched healthy control subjects were enrolled in this study. Serum zinc levels were measured in all participants. Statistical analysis was performed using a one-way ANOVA, t-test, and Chi-square test.
RESULTS: The mean serum zinc level in the healthy control group was significantly higher than the levels of all other groups (p < 0.001). No individual in the healthy control group had a serum zinc level less than the minimum normal value. However, up to 24.7% (13/54) of patients with AG presented with zinc deficiency, while 21.2% (33/156) of patients with RAS, 16.4% (9/55) of patients with BMS, 15.2% (7/46) of patients with xerostomia, and 14.0% (8/57) of patients with OLP were zinc deficient. Altogether, the zinc deficiency rate was 19.02% (70/368) in the oral mucosal diseases (OMD) group (all patients with OMD). The difference between the OMD and healthy control group was significant (p <0.001). Gender differences in serum zinc levels were also present, although not statistically significant.
CONCLUSIONS: Zinc deficiency may be involved in the pathogenesis of common oral mucosal diseases. Zinc supplementation may be a useful treatment for oral mucosal diseases, but this requires further investigation; the optimal serum level of zinc, for the prevention and treatment of oral mucosal diseases, remains to be determined.

PMID: 27031065 [PubMed - as supplied by publisher]

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Fuchs syndrome or erythema multiforme major, uncommon or underdiagnosed?

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Fuchs syndrome or erythema multiforme major, uncommon or underdiagnosed?

Indian J Dermatol Venereol Leprol. 2015 Jul-Aug;81(4):403-5

Authors: Mangal S, Narang T, Saikia UN, Kumaran MS

PMID: 26087085 [PubMed - indexed for MEDLINE]

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Identification of Stevens-Johnson syndrome and toxic epidermal necrolysis in electronic health record databases.

Related Articles

Identification of Stevens-Johnson syndrome and toxic epidermal necrolysis in electronic health record databases.

Pharmacoepidemiol Drug Saf. 2015 Jul;24(7):684-92

Authors: Davis RL, Gallagher MA, Asgari MM, Eide MJ, Margolis DJ, Macy E, Burmester JK, Selvam N, Boscarino JA, Cromwell LF, Feigelson HS, Kuntz JL, Pawloski PA, Penfold RB, Raebel MA, Sridhar G, Wu A, La Grenade LA, Pacanowski MA, Pinheiro SP

Abstract
BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) carry a high mortality risk. While identifying clinical and genetic risk factors for these conditions has been hindered by their rarity, large electronic health databases hold promise for identifying large numbers of cases for study, especially with the introduction in 2008 of ICD-9 codes more specific for these conditions.
OBJECTIVE: The objective of this study is to estimate the validity of ICD-9 codes for ascertaining SJS/TEN in 12 collaborating research units in the USA, covering almost 60 million lives.
METHODS: From the electronic databases at each site, we ascertained potential cases of SJS/TEN using ICD-9 codes. At five sites, a subset of medical records was abstracted and standardized criteria applied by board-certified dermatologists to adjudicate diagnoses. Multivariate logistic regression was used to identify factors independently associated with validated SJS/TEN cases.
RESULTS: A total of 56 591 potential cases of SJS/TEN were identified. A subset of 276 charts was selected for adjudication and 39 (of the 276) were confirmed as SJS/TEN. Patients with the ICD-9 codes introduced after 2008 were more likely to be confirmed as cases (OR 3.32; 95%CI 0.82, 13.47) than those identified in earlier years. Likelihood of case status increased with length of hospitalization. Applying the probability of case status to the 56 591 potential cases, we estimated 475-875 to be valid SJS/TEN cases.
CONCLUSION: Newer ICD-9 codes, along with length of hospitalization, identified patients with a high likelihood of SJS/TEN. This is important for identification of subjects for future pharmacogenomics studies.

PMID: 25914229 [PubMed - indexed for MEDLINE]

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Molecular Details of Acetate Binding to a New Diamine Receptor by NMR and FT-IR Analyses.

Molecular Details of Acetate Binding to a New Diamine Receptor by NMR and FT-IR Analyses.

J Phys Chem A. 2016 Mar 31;

Authors: Banerji B, Chatterjee M, Pal U, Maiti NC

Abstract
Acetate anion plays an important role in several biochemical functions such as enzyme reaction, antibody response and action of receptor molecules. This investigation reports the synthesis and molecular details of a unique receptor, 2-Amino-N-(2-amino-benzyl)-benzamide (R) that senses selectively acetate via simultaneous involvement of one aromatic amine group and an amide proton of the receptor molecule. Solution state NMR, steady state fluorescence and FT-IR examinations established that the acetate anion binds to the receptor with 1:1 ratio with high specificity. The binding was stabilized by two H-bonds formation between the oxygen atoms of acetate anion and two H-atoms, one from amide group and the other from the amine group of the receptor. The binding interaction caused significant changes in the chemical shift of the receptor protons and the evaluated affinity constant, from the NMR measurements was found to be 1.87×104 M-1. DFT analysis further showed a significant rotation of one of the two aromatic rings leading to formation of a ten member ring involving the acetate anion, amide proton and the one amine group attached to aromatic ring. The H-bond patterns observed in the crystal structure were significantly changed due to complex formation. However, the changes in the geometrical arrangement in the complex caused a small but a significant increase of the fluorescence emission. Acetate geometry and unique positioning of the amide and amine groups of the receptor render the recognition feasible and DFT analysis estimated ~30 kJ M-1 stabilization due to 1:1 complexation. Such positioning and geometrical arrangement may make the receptor very specific to bind acetate anion and as such became a very relevant molecule in detection and function of the acetate anion present in complex biochemical systems.

PMID: 27029209 [PubMed - as supplied by publisher]

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Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

Med Oral Patol Oral Cir Bucal. 2016 Mar 31;:0

Authors: Sólia-Nasser L, de Aquino SN, Paranaíba LR, Gomes A, Dos-Santos-Neto P, Coletta RD, Cardoso AF, Frota AC, Martelli-Júnior H

Abstract
BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations.
MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed.
RESULTS: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene.
CONCLUSIONS: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature.
CLINICAL RELEVANCE: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1.

PMID: 27031059 [PubMed - as supplied by publisher]

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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Ophthalmic Genet. 2016 Mar 30;:1-6

Authors: Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP

Abstract
BACKGROUND: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to exhibit complex genetic interactions that can modulate the penetrance and expressivity of the phenotype.
MATERIALS AND METHODS: In an individual with atypical RP, hearing loss, ataxia and cerebellar atrophy, whole exome sequencing was performed. The candidate pathogenic variants were tested by developing an in vivo zebrafish model and assaying for retinal and cerebellar integrity.
RESULTS: Exome sequencing revealed a complex heterozygous protein-truncating mutation in RP1L1, p.[(Lys111Glnfs*27; Gln2373*)], and a heterozygous nonsense mutation in C2orf71, p.(Ser512*). Mutations in both genes have previously been implicated in autosomal recessive non-syndromic RP, raising the possibility of a digenic model in this family. Functional testing in a zebrafish model for two key phenotypes of the affected person showed that the combinatorial suppression of rp1l1 and c2orf71l induced discrete pathology in terms of reduction of eye size with concomitant loss of rhodopsin in the photoreceptors, and disorganization of the cerebellum.
CONCLUSIONS: We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. Haploinsufficiency at each of these loci is insufficient to induce overt pathology.

PMID: 27029556 [PubMed - as supplied by publisher]

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microRNA-21 and microRNA-375 from oral cytology as biomarkers for oral tongue cancer detection

Publication date: June 2016
Source:Oral Oncology, Volume 57
Author(s): Qianting He, Zujian Chen, Robert J. Cabay, Leitao Zhang, Xianghong Luan, Dan Chen, Tianwei Yu, Anxun Wang, Xiaofeng Zhou
ObjectiveWe previously performed a meta-analysis of microRNA profiling studies on head and neck/oral cancer (HNOC), and identified 11 consistently dysregulated microRNAs in HNOC. Here, we evaluate the diagnostic values of these microRNAs in oral tongue squamous cell carcinoma (OTSCC) using oral cytology samples.Materials and methodsThe levels of 11 microRNAs were assessed in 39 oral cytology samples (19 OTSCC and 20 normal subjects), and 10 paired OTSCC and adjacent normal tissues. The predictive power of these microRNAs was analyzed by receiver operating characteristic curve (ROC) and random forest (RF) model. A classification and regression trees (CART) model was generated using miR-21 and miR-375, and further validated using both independent oral cytology validation sample set (14 OTSCC and 11 normal subjects) and tissue validation sample set (12 paired OTSCC and adjacent normal tissues).ResultsDifferential expression of miR-21, miR-100, miR-125b and miR-375 was validated in oral cytology training sample set. Based on the RF model, the combination of miR-21 and miR-375 was selected which provide best prediction of OTSCC. A CART model was constructed using miR-21 and miR-375, and was tested in both oral cytology and tissue validation sample sets. A sensitivity of 100% and specificity of 64% was achieved in distinguishing OTSCC from normal in the oral cytology validation set, and a sensitivity of 83% and specificity of 83% was achieved in the tissue validation set.ConclusionThe utility of microRNA from oral cytology samples as biomarkers for OTSCC detection is successfully demonstrated in this study.



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