Publications by authors named "Ameneh Eskandari"

Background: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreatic beta-cell dysfunction. Mutations in at least 14 different genes are responsible for various MODY subtypes. Heterozygous mutations in the hepatocyte nuclear factor 1 alpha () gene are responsible for the MODY3 subtype, which is a common subtype of MODY in different studied populations. To date, more than 450 different variants of this gene have been reported as disease causing for MODY3. This study was carried out to evaluate mutations in Iranian diabetic families fulfilling MODY criteria.

Materials And Methods: Polymerase chain reaction and Sanger sequencing were performed. All the ten exons of the gene were sequenced in ten families, followed by cosegregation analysis and evaluation. Computational protein modeling was accomplished for the identified mutation.

Results: MODY3 was confirmed in two large families by detecting a mutation (p.G253E) in coding regions of . Compound heterozygous state for two common variants in (p.I27 L and p.S487N) was detected in affected members of 5 families, and in one family, a rare benign variant in the coding sequence for Kozak sequence was detected. Two new nonpathogenic variants were found in noncoding regions of .

Conclusion: It seems that mutations are a common cause of MODY in Iranian diabetic patients. Identified common variants in heterozygous state can cause diabetes Type II in earlier ages. The role of rare variant rs3455720 is unknown, and more investigation is needed to uncover the function of this variant.

Background: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies.

Objective: A large multiplex family with NDNC was referred for genetic counselling. Thorough genetic evaluation was performed.

Methods: PCR-Sanger sequencing was carried out for the coding exons and exon-intron boundaries of the FZD6 gene. Co-segregation analysis, in silico evaluation and computational protein modeling was accomplished.

Results: A homozygous 1bp deletion variant, c.1859delC (p.Ser620Cysfs*75), leading to a truncating protein was found in the patient. Parents were heterozygous for the variant. The variant was found to be co-segreagting with the phenotype in the family. Computational analysis and protein modeling revealed its pathogenic consequence by disturbing the cytoplasmic domain structure and signaling through loss of phosphorylation residues. The variant met the criteria of being pathogenic according to the ACMG guideline.

Conclusions: This is the first report of the genetic diagnosis of NDNC in Iran. We also report a novel pathogenic variant. The study of the FZD6 gene is recommended as the first step in the diagnostic routing of the autosomal recessive NDNC patients with enlarged nails.

Background: Using drugs is a common affliction in patients with Schizophrenia affecting their increasing death rate. They have to tolerate longer treatment time and staying in hospital and they further show more violence and their living quality decreases. It also seems that this factor is among the influential factors of unsuccessful results in treating these patients.

Objectives: Despite all this, there is little data about drug consumption, psychopathology and demographic information in patients with chronic schizophrenia in Iran. This paper reviews the relation between drug consumption and the mentioned qualities in patients afflicted by chronic Schizophrenia.

Methods: In this cross-sectional study, 100 patients with Schizophrenia were interviewed based on DSM-IV-TR diagnostic parameters and according to a psychiatrist´s views. The severity of psychopathology was evaluated, using PANSS, (SCID-I) DSM-IV and BARRAT.

Results: The results show that in patients with chronic schizophrenia, there is a meaningful relation between cigarette consumption and education, gender, family background and BARRAT. It also has a direct correlation with Attention and Motor. Drug consumption has a meaningful relation with gender and Motor (p<0.05). But it has no relation with BARRAT. Of the variables having a relation with correlation, cigarette and treatment period factors have a predicting effect for drug consumption.

Conclusions: According to the results, drug and cigarette consumption is high among patients with Chronic Schizophrenia. Common cigarette consumption and its relation with impulsiveness increase, and death rate are the reasons which make us take the needed steps to have these patients quit smoking.