Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Metabolic Deficiencies Underlie Plasmacytoid Dendritic Cell Exhaustion After Viral Infection.

Type I Interferons (IFN-I) are central to host protection against viral infections . While any cell can produce IFN-I, Plasmacytoid Dendritic Cells (pDCs) make greater quantities and more varieties of these cytokines than any other cell type . However, following an initial burst of IFN- I, pDCs lose their exceptional IFN-I production capacity and become "exhausted", a phenotype that associates with enhanced susceptibility to secondary infections .

Risk factors for carbapenem-resistant infections in Intensive Care Units: a multicentre case-control study with a competing-risks analysis.

Aim: This study investigated the risk factors for the development of carbapenem-resistant Klebsiella pneumoniae (CRKP) infections in adult patients in Intensive Care Units (ICUs).

Methods: A multicentre case-control study was conducted in ICUs in three tertiary hospitals in Turkey. The cases were patients culture-confirmed CRKP and a condition associated with healthcare-associated infections.

Face Generation and Editing With StyleGAN: A Survey.

Our goal with this survey is to provide an overview of the state of the art deep learning methods for face generation and editing using StyleGAN. The survey covers the evolution of StyleGAN, from PGGAN to StyleGAN3, and explores relevant topics such as suitable metrics for training, different latent representations, GAN inversion to latent spaces of StyleGAN, face image editing, cross-domain face stylization, face restoration, and even Deepfake applications. We aim to provide an entry point into the field for readers that have basic knowledge about the field of deep learning and are looking for an accessible introduction and overview.

The Relationship Between Communicative Actions, Behavioral Intentions, and Corporate Reputation in the Framework of Situational Theory of Problem Solving in a Public Health Crisis.

This study aims to determine the individuals' communicative actions based on the basic assumptions of the situational theory of problem solving (STOPS) and the effect of these actions on people's willingness to follow WHO's instructions in the event of an epidemic. It also seeks to determine the impact of corporate reputation on people's communicative actions and intention to follow instructions. Data were collected digitally from 261 graduate students enrolled at a state university in the Eastern Anatolia Region of Turkey.

The Inflammatory and Cytological Effect of Repeated Povidone-Iodine Application in Patients Receiving Intravitreal Injections.

Objective: To investigate the effect of repeated povidone-iodine (PVI) application on the ocular surface parameters of patients who received intravitreal injections.

Materials And Methods: In this prospective study, 52 eyes of 52 patients with age-related macular degeneration who underwent unilateral intravitreal injection at least three times in the last 1 year (intravitreal injection [IVI] group), 52 fellow eyes with no previous intravitreal injection (NIVI group), and 51 eyes of 51 healthy subjects (control) were included. Tear break-up time (TBUT), the Schirmer test, the Oxford staining score, the Ocular Surface Disease Index questionnaire, conjunctival impression cytology, and tear inflammatory cytokine levels (interleukin [IL]-1β and IL-6) were analyzed in all participants.

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism.

Objective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings.

Biallelic Novel Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.

Introduction: Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers an useful approach to differentiate different types of cholestasis because some symptoms and findings overlap.

Dynamic Thiol-Disulfide Homeostasis as a Marker for Oxidative Stress in Lung Transplant Candidates.

Objectives: Oxidative stress developing due to oxidant/antioxidant imbalance plays a crucial role in the etiopathogenesis of chronic progressive lung diseases.The condition is typically more severe in lung transplant candidates with end-stage lung disease. Here, we investigated dynamic thiol-disulfide homeostasis as a marker for oxidative stress in lung transplant candidates.

Investigation of changes in protein stability and substrate affinity of 3CL-protease of SARS-CoV-2 caused by mutations.

3CLpro of SARS-CoV-2 is one of the enzymes required for the replication process of the virus responsible for the COVID-19 pandemic. In this study, changes in protein stability and substrate affinity caused by mutations were investigated to stir the development of potent inhibitors. Sequence data of samples were obtained from the NCBI Virus database.

PARANEOPLASTIC OPTIC NEUROPATHY AS AN INITIAL CLINICAL MANIFESTATION OF SMALL CELL LUNG CANCER. A CASE REPORT.

Paraneoplastic optic neuropathy (PON) is a very rare condition. In this study, a case of PON whose first complaint was painless vision loss in one eye is presented. In the follow-up of our case, optic neuropathy developed in the fellow eye.

Dynamic Thiol-Disulfide Homeostasis in Lung Transplant Recipients.

Objectives: In this study, we investigated dynamic thiol-disulfide homeostasis as a new indicator of oxidative stress in lung transplant recipients. In addition, we compared dynamic thiol-disulfide homeostasis parameters according to transplant indication and time after transplant.

Materials And Methods: This study had a single-center, observational, randomized design.

Effects of specimen haemolysis on complete blood count results by Abbott Alinity hq System.

Introduction: The current study aimed to assess the interference of haemolysis on complete blood count (CBC) using Abbott Alinity hq system, and to determine which haemolysis levels affect the reliability of sample results.

Materials And Methods: Blood samples obtained from 25 volunteers in K3-EDTA tubes were divided into four aliquots. The first aliquot was not subjected to any intervention.

Regional analysis of segmented-macular structure in patients with myopic anisometropia.

Purpose: To compare intraretinal layers between the eyes in patients with myopic anisometropia, and evaluate the relationship between the layers with spherical equivalent (SE) and axial length (AL).

Methods: In this retrospective study, the more myopic (MM) and fellow (F) eyes of 41 patients with myopic anisometropia, and 38 emmetropic (± 0.50 diopter) control (C) eyes were inclueded.

Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.

Objectives: Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency.

Determining biological variation of serum parathyroid hormone in healthy adults.

Introduction: Measurement of parathyroid hormone (PTH) is essential in the investigation and management of calcium metabolism disorders. To assess the significance of any assay result when clinical decision making biological variation (BV) of the measurand must be taken into consideration. The aim of the present study is determining the BV parameters for serum PTH.

Comparison of the effect of gel used in two different serum separator tubes for thyroid function tests.

Background: Selection and verification of blood collection tubes is an important preanalytical issue in clinical laboratories. Today, gel tubes are commonly used with many advantages, although they are known to cause interference in immunoassay methods. In this study, we aimed to compare SSTs of two different suppliers (Ayset clot activator & Gel and Becton Dickinson (BD) Vacutainer SST II advance) with reference tubes and evaluate the effect of storage time in terms of commonly used endocrine tests such as thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3).

Comprehensive structural analysis of the open and closed conformations of Theileria annulata enolase by molecular modelling and docking.

Theileria annulata is an apicomplexan parasite which is responsible for tropical theileriosis in cattle. Due to resistance of T. annulata against commonly used antitheilerial drug, new drug candidates should be identified urgently.

Evidence for neurotoxicity associated with amoxicillin in juvenile rats.

Amoxicillin (AMX) is one of the most commonly prescribed antibiotics for children, and childhood is the period to have the highest risk for toxicity cases including drug-induced adverse reactions. Some neurological adverse effects (anxiety, hyperactivity, confusion, convulsions, and behavioral changes) have been reported related to AMX treatment. In the present study, we aimed to determine the neurotoxic effects of AMX administration at clinically relevant doses in female juvenile rats.

Stability of urine specimens stored with and without preservatives at room temperature and on ice prior to urinalysis.

Objectives: Laboratories determine the most appropriate approach for the collection and transport of urine specimens. We investigated the effect of a chlorhexidine-based preservative tube on sample stability, compared the results of refrigerated polystyrene tubes with no additives, and investigated the effect of temperature on the performance of preservative tubes.

Design And Methods: Fresh urine specimen (n=48) aliquots in BD Vacutainer® Plus Urinalysis Preservative Tubes and polystyrene tubes were analyzed on an Iris Diagnostics iQ200.

Oral health status of disabled individuals attending special schools.

Objectives: The purpose of this study was to determine the prevalence of the dmft-DMFT indexes and the oral hygiene status of 136 individuals attending a special school for the disabled.

Methods: Participants were grouped according to disability [Mental Retardation (MR), Cerebral Palsy (CP), Autistic Disorder (AD), Down Syndrome (DS), Other (OTH)] and age [2-6 years (n=24), 7-12 years (50 children) and 13+ years (62 children]. Caries examinations were carried out in accordance with WHO criteria and oral cleanliness was evaluated by visually assessing the presence of plaque on teeth.

Traumatic injuries to permanent teeth in Turkish children, Ankara.

The aim of this study was to identify the types and etiologies of dento-alveolar injuries among patients who were treated for injuries to maxillary and/or mandibular permanent teeth at the Gulhane Medical Academy, Department of Pediatric Dentistry, Center of Dental Sciences in Ankara, Turkey to provide a basis for determining optimal treatment approaches and educational needs. From a total of 4956 children aged 6-12 years (mean age: 8.91 +/- 1.

Single right coronary artery-R-I subtype: a report of an extremely rare case.

A single coronary ostium with no associated congenital cardiac disease is a rare congenital coronary-artery anomaly. However, a single right coronary artery has a much rarer incidence. We report here the antemortem diagnosis of a case with R-I subtype single coronary artery supplying the entire myocardium.

Human leukocyte antigen class II alleles and dental caries in a child population.

Purpose: The purpose of this study was to investigate a possible relationship between human leukocyte antigens (HLAs) DRB1 and DQB1, dental caries, and colonization by mutans streptococci (MS) in children.

Methods: Sixty children were clinically examined for caries in accordance with World Health Organization criteria and methods. Thereafter, subjects were assigned into 2 groups: (1) high-caries children (dft and DMFT > or = 5); and (2) caries-free children (dft and DMFT = 0).

Investigation of proliferative activity in the developing human tooth using Ki-67 immunostaining.

Objective: The aim of this study was to investigate the proliferation of the developing human tooth germ and its surrounding tissues using Ki-67 immunostaining.

Materials And Methods: Sections of mandibular dental arch tissues collected from 4 cadaveric human fetuses of 13, 16, 21 and 30 weeks of gestation were used. The immunoreactivity of Ki-67 in the tissue sections was assessed visually under a light microscope.