Molecular analysis of 31 cases with fetal skeletal dysplasia.

Objectives: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis.

Methods: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched.

Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?

Objective: To analyze the value of prenatal diagnostic genetic testing in cases with isolated aberrant right subclavian artery (ARSA).

Methods: This is a retrospective cohort study, conducted between January 2015-January 2022 in a fetal medicine center. Women who had an ultrasound scan and diagnosed with fetal ARSA were included.

Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort.

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed.

An analysis of factors affecting survival in prenatally diagnosed omphalocele.

Objectives: To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies.

Methods: A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size, content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed.

Contribution of chromosomal microarray analysis and next-generation sequencing to genetic diagnosis in fetuses with normal karyotype.

Aim: The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underwent invasive testing for different indications.

Methods: The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal structural malformation, presence of soft markers, and high risk in screening tests.

Can FMR1 CGG repeat lengths predict the outcome in ICSI cycles?

Objectives: The aim of this study was to assess relationship between CGG repeat lengths and ovarian reserve and response to controlled ovarian stimulation (COH).

Material And Methods: This prospective cohort study was carried out on patients (n = 49) who were admitted to the in vitro fertilization (IVF) clinic of the Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, University of Health Sciences. Women under 40 years of age with premature ovarian insufficiency underwent genetic analysis to determine CGG repeat lengths.

Foetal thoracic hypoplasia: concomitant anomalies and neonatal outcomes.

The aim of the current study was to determine the frequency of concomitant anomalies in foetal thoracic hypoplasia and the neonatal outcomes of these pregnancies. This retrospective study included 49 cases of foetal thoracic hypoplasia. All of the cases had skeletal system anomalies.

Primary skeletal muscle lymphoma: A case report.

Primary lymphomas of the bone or skeletal muscle are rare. Three mechanisms of lymphomatous involvement of the muscle have been described, namely direct invasion from adjacent involved lymph nodes or bone, metastatic spread and, least commonly, primary muscle lymphoma. We herein present a rare case of primary mucle non-Hodgkin lymphoma with a description if the associated clinicopathological findings and a review of the relevant literature.

Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.

Background: To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).

Materials And Methods: A total of 105 children were included in this cross-sectional study. Patients were divided into two groups.

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus with severe limbs defects, including bilateral humeroradial synostosis, bilateral oligodactyly in hands, underdeveloped pelvis, short femora and tibiae, absence of fibulae, severely small feet, and absence of uterus. An autosomal recessively inherited novel mutation in WNT7A found in the fetus, c.

Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.

Background/aim: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Background: Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases.

Methods: We performed whole exome sequencing (WES) of 52 patients with clinical presentation of arthrogryposis from 48 different families.

DNA damage is increased in lymphocytes of patients with metabolic syndrome.

We assessed DNA damage in patients with metabolic syndrome (MetS) by performing comet and micronucleus (MN) assays on peripheral blood lymphocyte cultures from study participants. 52 MetS patients and 35 age-matched healthy controls were evaluated for abdominal obesity, body-mass index (BMI), blood pressure, serum triglycerides, HbA1c, HDL-C, and fasting blood glucose levels. In addition, malondialdehyde (MDA) levels and activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) were determined.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal anomalies. Recently, novel mutations in C5orf42 were identified in 9 out of 11 OFDVI families.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES.

Apical root resorption caused by orthodontic forces: A brief review and a long-term observation.

External apical root resorption (ARR) is a common iatrogenic consequence of orthodontic treatment. One of the aims of this article is to present a brief overview of the literature, including; diagnosis and etiology, with emphasis on orthodontic forces to facilitate an understand of the prevention or management of ARR in orthodontic patients. We also present a long-term follow-up observation of severe ARR, including the last obtained cone beam computed tomography (CBCT) records, to demonstrate the effect of orthodontic forces on ARR.

Genetic alterations in benign, preneoplastic and malignant breast lesions.

Context: The c-erbB-2 proto-oncogene is a member of the epidermal growth factor receptor family and has been associated with a more aggressive breast tumor biology and resistance to some types of treatments.

Aims: The aim is to investigate the correlation among bcl-2 and c-erbB-2 and the micronucleus (MN) formation in patients with early breast cancer (BC).

Materials And Methods: This study was conducted between May 2010 and December 2011.

Phototherapy causes a transient DNA damage in jaundiced newborns.

In this study, we aimed to clarify the following questions: 1) Does phototherapy (PT) cause genotoxicity in full-term newborn babies undergoing PT as a result of neonatal jaundice?, 2) if genotoxic effect occurs, is there any relationship between the duration of PT and genotoxicity?, and 3) is genotoxic effect temporary or not? The frequency of sister chromatid exchange (SCE) was determined in jaundiced newborns before, during, and after phototherapy, then determined again in childhood (approximately 3.5 years old). Mean frequency of SCE of 22 full-term jaundiced babies significantly increased during the PT procedure and in every single day, compared to the previous day, in comparison to the pre-PT basal value (6.

Comet assay and analysis of micronucleus formation in patients with rheumatoid arthritis.

Oxidants play a significant role in causing oxidative stress, which underlies the pathogenesis of rheumatoid arthritis (RA). Genetic factors that predispose individuals to RA are considered to play an important role in the development of the disease. The aim of this study was to determine, by use of the comet assay and the micronucleus (MN) test, whether DNA damage has an effect on the pathogenesis of RA.

Genomic instability in patients with Barrett's esophagus.

Our study aimed to determine, by counting sister chromatid exchange (SCE) and micronucleus (MN) frequencies, whether genetic impairment and DNA damage have an effect on the pathogenesis of Barrett's esophagus (BE). This study was conducted between June 2007 and November 2008 in the Erzurum Training and Research Hospital. We analyzed SCE and MN frequencies in 30 patients with BE, and in 30 control cases.

Orthodontic treatment of an ankylosed maxillary central incisor through osteogenic distraction.

Tooth ankylosis is one of the various problems in dentistry and requires special treatment approaches for satisfactory results. In the orthodontic treatment of an ankylosed tooth, different treatment modalities have been put into practice including both orthodontic and orthodontic-surgical approaches. For favorable results, gingival margin esthetics must be considered as much as leveling the ankylosed tooth in the arch.

Correction of Mandibular Retrognathia and Laterognathia by Distraction Osteogenesis: Follow up of 5 cases.

This article evaluates the use of distraction osteogenesis in the treatment of mandibular retrognathia and laterognathia and the long term treatment results of the patients treated with this technique. The procedure was carried out in 5 subjects (3 males and 2 females, mean age 18.4 years) aged between 14 years and 27 years.

Exposure to bitumen fumes and genotoxic effects on Turkish asphalt workers.

Objective: Bitumen fumes consist essentially of polycyclic aromatic hydrocarbons (PAHs) and their derivatives, some of which are known to be carcinogenic or cocarcinogenic in humans. The aim of this study was to investigate exposure to asphalt fumes among Turkish asphalt workers and determine whether any effects could be detected with genotoxic tests.

Study Design: The study included 26 asphalt workers and 24 control subjects.