A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.

Introduction: The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmental delay, intellectual disability, microcephaly, short stature, and subtle anomalies on brain magnetic resonance imaging (MRI). To date, about 50 patients have been reported in the medical literature.

-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.

Introduction: Hereditary forms of intellectual disability (ID), an estimated prevalence ranging between 1% and 3% in the general population, are among the most important problems in health care. Especially, autosomal-recessive ID has a very heterogeneous molecular basis and a lack of specific phenotypic features.

Methods: Here, we report on two unrelated patients with autosomal-recessive ID, microcephaly, and autistic features and review the patients with TRAPPC9-related ID.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and PIDD1, have associated with LIS impacting the previously established role of the PIDDosome in activating caspase-2.

Chromosome 1p status in neuroblastoma correlates with higher expression levels of miRNAs targeting neuronal differentiation pathway.

Neuroblastoma (NB) is characterized by acquired segmental and numerical chromosome aberrations. Although deletions of distal 1p and 11q are frequent alterations, no candidate tumor suppressor gene residing in these chromosomal sites could be identified so far. In the present study, we detected the genomic imbalances of six neuroblastoma cell lines using the multiplex ligation-dependent probe amplification (MLPA) technique and the microRNA (miRNA) expression profiles of the cell lines by a microarray study.

KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.

Potassium voltage-gated channel subfamily B member 1 () encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental delay, behavioral disorders, and various epilepsies.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.

Verteporfin mediated sequence dependent combination therapy against ovarian cancer cell line.

Ovarian Cancer is one of the deadliest gynecological cancer showing high resistance to chemotherapy. Non-overlapping and synergistic combination therapies are the best option to overcome this multi-pathological silent disease. Cationic peptides (CPs) with high targeting feature and ability to pass through cell membrane induce apoptosis via disruption of cancer cell membrane.

Rapid identification of and assessment of clarithromycin susceptibility from clinical specimens using FISH.

remains one of the most common bacterial infections worldwide. Clarithromycin resistance is the most important cause of eradication failures. Effective antibiotic therapies in infection must be rapidly adapted to local resistance patterns.

The Prevalence of Hepatitis B and C Among Prisoners in Kahramanmaras, Turkey.

Background: Hepatitis B virus (HBV) and hepatitis C virus (HCV) infections are among the most important health issues in Turkey. Human immunodeficiency virus (HIV) infections are less frequently observed in the country. The individuals who had blood transfusions, patients undergoing hemodialysis, and intravenous drug addicted individuals, people who had tattoos/piercings, communal living environments, contamination of a family member, and prisoners are the main risk groups.

The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique.

Background: Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and the most frequent extra cranial solid tumor of early childhood. These tumors display a wide range of clinical behavior and are characterized by complex chromosomal changes, some of which are associated with distinct clinical phenotypes. We investigated the contribution of genetic variables to staging and histology by logistic regression analyses.

Distribution and predominance of genotype 3 in hepatitis C virus carriers in the province of kahramanmaras, Turkey.

Background: The hepatitis C virus (HCV) has six major genotypes and more than 100 subtypes, and the determination of the responsible genotype, collection of epidemiological data, tailoring antiviral therapy, and prediction of prognosis have an important place in disease management.

Objectives: The aim of the present study was to determine the distribution of HCV genotypes across geographic regions and compare these data with those obtained from other geographic locations.

Patients And Methods: The HCV genotypes were identified in HCV RNA positive blood samples, obtained from different centers.

[Comparison of direct microcopy and antigen casette tests for the detection of Giardia and Cryptosporidium].

Objective: The aim of this study was to compare the direct microscopy used for detection of intestinal parasites with antigen casette tests used in diagnosis of giardiasis and crypyosporidiasis.

Methods: Forty-six children who lived in the Şanlıurfa Orphanage were enrolled in this study. The stool specimens were taken in the morning and examined by using native-lugol, modified formalin-ethylacetate concentration methods and cellophane tape method on the same day at the Microbiology laboratory of Harran University.

Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors.

Somatic and germline mutations of the anaplastic lymphoma kinase (ALK) gene were recently described in neuroblastoma (NB). In this study, we investigated the association of ALK copy number alterations with copy number status 2p24.1 amplicon harboring DEAD box polypeptide 1 (DDX1), MYCN and neuroblastoma-amplified (NAG) genes in 90 primary tumors of sporadic NB cases by multiplex ligation-dependent probe amplification (MLPA).

[Post-operative bacteremia caused by multidrug-resistant Aerococcus viridans in a patient with gall bladder cancer].

Aerococcus viridans is a gram-positive, catalase and oxidase negative, microaerophylic and non-motile coccus which is rarely associated with human infections such as endocarditis, meningitis, artritis and bacteremia. We report a case of bacteremia due to A. viridans in a 61-years-old man with malignant gall bladder neoplasm.

Membrane curvature stress and antibacterial activity of lactoferricin derivatives.

We have studied correlation of non-lamellar phase formation and antimicrobial activity of two cationic amphipathic peptides, termed VS1-13 and VS1-24 derived from a fragment (LF11) of human lactoferricin on Escherichia coli total lipid extracts. Compared to LF11, VS1-13 exhibits minor, but VS1-24 significantly higher antimicrobial activity. X-ray experiments demonstrated that only VS1-24 decreased the onset of cubic phase formation of dispersions of E.

Association of MYCN amplification and 1p deletion in neuroblastomas with high tumor vascularity.

The biologic behavior of neuroblastoma (NB) is extremely variable; therefore, the clinical behavior may be reliably predicted based on the analysis of a panel of prognostic parameters. High vascular density has been correlated with aggressive tumor progression in many types of cancers. The goal of this study was to correlate the tumor vascularity in NB with status of MYCN and the short arm of chromosome 1 (1p) to address the association between angiogenesis and genetic markers of prognostic significance.

Detection of Helicobacter pylori and determination of clarithromycin susceptibility using formalin-fixed, paraffin-embedded gastric biopsy specimens by fluorescence in situ hybridization.

Background: Clarithromycin resistance and poor compliance to therapy are often responsible for Helicobacter pylori eradication therapy failure.

Aim: To evaluate fluorescence in situ hybridization (FISH) as a nonculture method to simultaneously detect H. pylori and to identify clarithromycin resistance.

Correlation of modified Shimada classification with MYCN and 1p36 status detected by fluorescence in situ hybridization in neuroblastoma.

Neuroblastoma (NB) is a childhood cancer derived from neural crest cells, with a highly variable clinical course and biologic behavior. NB cells harbor complex genetic changes. Also, MYCN amplification is a well-known molecular marker for aggressive progression, and deletion of the short arm of chromosome 1 is frequently observed in NB.

Reliability and validity testing of an archery chronometer.

Keeping the arrow velocity constant during consecutive shots and responding to "clicker's fall "are considered to be an important feature of archery performance. A specially designed device called an archery chronometer was developed to measure the reaction time of an archer to clicker's fall, arrow velocity, and external factors that may affect arrow velocity. The purposes of this study were to test (1) the validity of Clicker Reaction Time (CRT) measurer, and (2) the reliability of CRT in accordance with the Flying Time (FT)/Average Speed (AS), temperature (TEMP), wind speed (WS) and wind direction (WD) measurements.

Activation patterns in forearm muscles during archery shooting.

A contraction and relaxation strategy with regard to forearm muscles during the release of the bowstring has often been observed during archery, but has not well been described. The purpose of this study was to analyze this strategy in archers with different levels of expertise; elite, beginner and non-archers. Electromyography (EMG) activity of the M.

[Biodynamic response of the human shank subjected to impulse load].

This paper reported the establishment of biodynamic modelling of the human shank in the sagittal palne while the human thigh is fixed. And when the shank is subjected to the two types of externally applied impulse loads, the forces associated with the four main ligaments, as well as the bone-to-bone contact forces in the knee joint are numerically obtained. The contact point locations are also presented together with the angular motions of the lower limb segments.

[A human knee articulate mathematical model on femur-tibia-patella 3-segmetents].

In this paper, based on the previous work of S. Turgut Tumer et al, a human knee articulate mathematical model on femur-tibia-patella 3-segments is established by introducing patella-femur joint. This model includes both rolling and slipping motions of femur-tibia joint and femur-patella joint.

[A biomechanical model of human knee-joint elastic articulate contact].

In this paper, based on the characterizations of human knee-joint anatomical structures and reports of the literature and experiments, a biomechanical model of the human knee-joint elastic articulate contact is developed under the conditions of sampling the human knee-joints. This model is believed to be a powerful tool for functional analysis of the knee, for evaluation of surgical and diagnostic procedures and for design of artificial joints.

Simulation of human gait using computed torque control.

This paper presents a method for the mathematical modeling of both the single and double support phases of the human gait. The governing equations are obtained by considering the linkage model to be in a floating state and the foot-ground interaction is imposed in the form of geometric constraints. Two stages for the single support phase and one stage for the double support phase are considered, each described by a different foot-ground constraint.

Three-body segment dynamic model of the human knee.

In this paper, a two-dimensional, three-body segment dynamic model of the human knee is introduced. The model includes tibio-femoral and patello-femoral articulations, and anterior cruciate, posterior cruciate, medial collateral, lateral collateral, and patellar ligaments. It enables one to obtain dynamic response of the knee joint to any one or combination of quadriceps femoris, hamstrings, and gastrocnemius muscle actions, as well as any externally applied forces on the lower leg.