Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

Familial mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder (MIM# 249100), particularly common in populations of Mediterranean extraction. MEFV gene, responsible for FMF, encoding pyrin has recently been mapped to chromosome 16p13.3. In the present study, 3,341 unrelated patients with the suspicion of FMF in south-east part of Turkey between the years 2009 and 2013 were enrolled and genomic sequences of exon 2 and exon 10 of the MEFV gene were scanned for mutations by direct sequencing. We identified 43 different type of mutations and 9 of them were novel. DNA was amplified by PCR and subjected to direct sequencing for the detection of MEFV gene mutations. Among the 3,341 patients, 1,598 (47.8 %) were males and 1,743 (52.1 %) were females. The mutations were heterozygous in 806 (62.3 %), compound heterozygous in 188 (14.5 %), homozygous in 281 (21.8 %) and mutations had complex genotype in 17 (1.32 %) patients. No mutation was detected in 2,051 (61.4 %) patients. The most frequent mutations were M694V, E148Q, M680I(G/C) and V726A. We could not find any significant differences between the two common mutations according to the gender. Molecular diagnosis of MEFV is a useful tool in clinical practice, thus a future study relating to genotype/phenotype correlation of FMF in more and larger group in Turkish population involving the whole MEFV gene mutations is necessary.

[Possible Relation Between Antenatal Venlafaxine Use and VACTERL Association in a Newborn: A Case Report]. / Antenatal Venlafaksin Kullanimi ve VACTERL Asosiasyonunun Olasi Iliskisi: Bir Olgu Sunumu.

Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors (SSRI) or serotonin and norepinephrine reuptake inhibitors (SNRI) and certain birth defects. VACTERL association is a rare group of congenital malformations which were observed to occur together more often than would be expected by chance. Diagnosis requires coexistence of at least three congenital malformations from vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R), and limb (L) regions. Here, a case of a newborn female whose mother's gestational history revealed venlafaxine use before and during her pregnancy is reported. This newborn had anal atresia, patent ductus arteriosus, tracheoesophageal fistula, and upper limb anomalies. To the best of authors' knowledge this is the first report of VACTERL association possibly related to gestational use of SSRI or SNRI.