Background: Developmental and Epileptic Encephalopathy (DEE) is a severe and heterogeneous neurological disorder in infancy/early childhood. DEE’s genetic and phenotypic variability complicates diagnosis and treatment. This retrospective study aimed to identify genetic variants and explore genotype–phenotype correlations in children with DEE using a targeted epilepsy gene panel (TGP) and Whole Exome Sequencing (WES). Patients and Methods: Medical records of children who underwent custom-designed 55-gene TGP and WES were reviewed. The diagnostic yield of each method was determined based on the detection of pathogenic (P) and likely pathogenic (LP) variants. Results: A total of 129 patients (66 males, 63 females) underwent TGP, which identified P/LP variants in 29 cases (22.48%). Variants were detected in SCN1A, KCNQ2, STXBP1, CDKL5, PCDH19, PLCB1, WWOX, SCN2A, FGF12, HCN1, SCN8A, and SLC35A2. WES further identified several variants in children with West syndrome. A TSC1 variant was detected in a patient without cutaneous stigmata of tuberous sclerosis complex. The NALCN variant in a patient was linked to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1. A CTBP1 variant associated with extremely rare Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome was detected in another patient. A PIEZO2 variant—associated with Marden–Walker syndrome—was found in a child with Early Infantile Developmental and Epileptic Encephalopathy. Conclusions: These findings highlight the extensive genetic heterogeneity and phenotypic variability of DEE. WES demonstrates substantial value in identifying novel gene-disease associations and may be considered as a first-tier diagnostic tool in epilepsy and DEE.

Purpose: Fetal karyotyping is commonly used to detect chromosomal abnormalities in high-risk pregnancies. Our study is intended to evaluate the results of fetal karyotyping performed in our laboratory for six years and to determine the frequency of chromosomal abnormalities, thus revealing their clinical significance. Materials and Methods: The cytogenetic results of 661 prenatal samples with an indication for invasive prenatal procedures (amniocentesis, cordocentesis) who had a chromosome analysis and FISH testing between February 2013 and March 2019 were analyzed in our study. Results: A total of 72 (10.8%) abnormal fetal karyotypes were observed in the study group. Trisomy 21 was the most common numerical aberration (29%, n = 23), followed by trisomy 18 (16%, n = 13), trisomy 13 (2.6%, n = 2), triploid (2.6%, n = 2), sex chromosome aneuploidies (5.2%, n = 4), and rare mosaic autosomal aneuploidies (2.6%, n = 2). Inversions (16%, n = 13), inherited translocations (7.8%, n = 6), unbalanced/de novo translocations (6.5%, n = 5), deletions (5.2%, n = 4), additional chromosomes (1.3%, n = 1), isochromosomes (1.3%, n = 1), and derivative chromosomes (1.3%, n = 1) were identified as structural abnormalities. Of the 18 cases that underwent FISH testing, trisomy 18 was detected in 1 case and tetrasomy 12p was detected in 1 case. Conclusion: Fetal karyotyping is still an effective and valuable method in the diagnosis of fetal anomalies and provision of effective genetic counseling. In addition, fetal karyotyping should be supported by complementary methods and advanced technologies for accurate and rapid prenatal genetic diagnosis.

Dünya genelinde ciddi bir sağlık sorunu olan obezitenin en etkin tedavisi olarak cerrahi işlemler uygulanmaktadır. Sleeve gastrektomi en sık uygulanan obezite cerrahisi tekniğidir. Obez bireylerde kanser riskinin arttığına dair görüşler mevcuttur. Ancak obezite cerrahisi sonrası da mide kanseri gelişen bazı olgular bildirilmiştir. Morbid obezite tanısı ile sleeve gastrektomi uygulanan bir hastanın ameliyatından 8 ay sonra dispeptik şikayetleri gelişmeye başlamıştır. Tetkikler neticesinde striktür tanısı konulan hastaya gastrik bypass revizyon cerrahisi uygulanmıştır. Hastanın bu operasyonundan sonra da şikayetlerinin devam etmesi üzerine yapılan detaylı incelemede hastaya mide adenokarsinomu tanısı konulmuştur ve hastaya total gastrektomi ameliyatı yapılmıştır. Obezite ciddi bir sağlık problemi olmasının yanında beraberinde birçok hastalık içinde risk faktörü olarak değerlendirilmektedir. Obez bireylerde kanser riskinin arttığı yönünde literatürde ciddi çalışmalar mevcuttur. Ancak obezite cerrahisi sonrasında kanser riskinin arttığına yönelik bazı çalışmalar mevcut olsa da henüz genel bir kanı oluşmamıştır. Ancak kanser riski artmış olan obez bireylerde cerrahi tedavi öncesinde kanser taraması amacıyla kontrol endoskopi yapılması ciddi şekilde önerilmektedir.