JAKCalc: A machine-learning approach to rationalized JAK2 testing in patients with elevated hemoglobin levels.

The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing.

Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes.

Purpose: To determine the association between fetal fraction (FF) levels in cell-free fetal DNA (cffDNA) testing and adverse pregnancy outcomes.

Methods: This retrospective cohort study, conducted at a single center, involved 2063 pregnant women with normal 1st and 2nd trimester non-invasive prenatal test (NIPT) results between 2016 and 2021. Pregnancy outcomes were examined by determining the  < 4% and  < 5th percentile (3.

Prognostic and predictive role of liquid biopsy in lung cancer patients.

Introduction: Lung cancer (LC) is a leading cause of cancer-related mortality worldwide. Approximately 80% of LC cases are of the non-small cell lung cancer (NSCLC) type, and approximately two-thirds of these cases are diagnosed in advanced stages. Only systemic treatment methods can be applied to patients in the advanced stages when there is no chance of surgical treatment.

Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.

Objective: Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome.

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.

Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD.

Methods: We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs.

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

Introduction And Purpose: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.

related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Introduction: Pathogenic variants in , a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS).

Material-methods: Sixteen patients diagnosed to have -related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded.

The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis.

Introduction: Brain metastasis prevalence is higher in patients with positive epidermal growth factor receptor (EGFR) mutation, anaplastic lymphoma kinase (ALK) and C-ROS oncogene 1 (ROS-1) fusion change in lung adenocarcinoma.

Objectives: The purpose of our study is to investigate the relation between the genetic change type and the initial distant metastasis in stage IV lung adenocarcinoma patients with genetic changes.

Methods: The study was conducted between January 2007 and December 2018 in a retrospective fashion with patients who had lung cancer diagnosed as stage IV adenocarcinoma.

Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient.

Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse neurologic features. Indeed, disease progression is varying greatly within the different forms and current treatment modalities are exclusively symptomatic for HSP. Tremor in HSP patients is only mentioned with rare case reports, so treatment option is lack in clinical ground.

Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?

Objective To investigate the possible predictive value of fetal fraction in the cell-free DNA (cfDNA) test in pregnancies with early- and late-onset fetal growth restriction (FGR). Methods This retrospective study comprised 247 women who were screened using the cfDNA test for aneuploidies during the first or second trimester and had deliveries at our institution from January 2016 to December 2019. The fetal fractions of women with early- (n = 14) and late-onset (n = 83) FGR and those with uncomplicated pregnancies (n = 150) were compared.

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.

Objective: The aim of this study was to determine the frequencies of chromosomal abnormalities and Y-chromosome microdeletions in Turkish cases with primary male infertility in a single center.

Material And Methods: Chromosomal abnormalities and Y-chromosome microdeletions were investigated in 1696 cases with primary male infertility between 2012 and 2017. Karyotype analyzes and Y-chromosome microdeletions analyzes [azoospermia factor (AZF) regions] were performed in all cases by using standard cytogenetic methods and the multiplex polymerase chain reaction method, respectively.

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.

Gürsoy S, Kutbay YB, Özdemir TR, Hazan F. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. Turk J Pediatr 2019; 61: 589-593.

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Objective: The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness.

Methods: Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carried out with GJB2 gene sequence analysis and mtDNA m.

A case of spastic paraplegia-15 with a novel pathogenic variant in gene.

Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-linked forms. HSPs are clinically classified into 'pure' and 'complicated' (complex) forms.

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.

Exhaled breath is a source of volatile and nonvolatile biomarkers in the body that can be accessed non-invasively and used for monitoring. The collection of lung secretions by conventional methods such as bronchoalveolar lavage, induced sputum collection, and core biopsies is limited by the invasive nature of these methods. Non-invasive collection of exhaled breath condensate (EBC) provides fluid samples that are representative of airway lining fluids.

A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis.

The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.

Çavuşoğlu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arıcan P, Gençpınar P. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. Turk J Pediatr 2018; 60: 216-220.

Targeted Next-Generation Sequencing of , and Genes in Patients with Endometrial Carcinoma under 50 Years of Age.

Background: Lynch syndrome is an inherited cancer disorder that causes an increased lifetime risk of various types of cancers. Endometrial cancer is the most common extracolonic cancer in Lynch syndrome. Guidelines recommend that patients with endometrial cancer younger than 50 years of age should be evaluated for Lynch syndrome.

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, high reverse triiodothyronine, and normal or slightly elevated thyrotropin. He also had attention-deficit disorder and muscle weakness but no delay in growth or bone age.

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.

The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies.

Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia.

Objective: There is an urgent need to find new biomarkers with higher specificity and sensitivity for using early detection of prostate cancer (PrCa) and reducing recurrent unnecessary biopsy rates, psychological and physical stress on the patient, and costs. Being noninvasive, urine-based tests might be suitable in routine practice. The aim of this study was to report the first whole-genome gene expression analysis in urine samples, as noninvasive method, that were obtained from PrCa, benign prostate hyperplasia (BPH), and control groups by using the microarray system from Turkey, to our knowledge.

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey.

Background/aim: QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and is widely used for prenatal rapid aneuploidy detection.

Materials And Methods: We report retrospectively our prenatal diagnosis results between January 2012 and May 2014 in Tepecik Training and Research Hospital Genetic Diagnostic Center.

Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.

Introduction: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies.

Case Report: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face.