Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.

Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.

Is there a comparable Mp-MRI for incidental prostate uptake on 18 F-FDG PET/CT?

Purpose: Although 18 F-FDG-PET/CT is helpful in defining many types of cancer, localized prostate cancer should not be treated with this technique. This study describes the use of multi-parametric MRI (mpMRI) to characterize incidental 18 F-FDG uptake in the prostate.

Methods And Materials: While 18 F-FDG-PET/CT is useful for characterizing a variety of cancers, it is not advised for prostate cancer that is localized.

Identification of Diagnostic and Prognostic Subnetwork Biomarkers for Women with Breast Cancer Using Integrative Genomic and Network-Based Analysis.

Breast cancer remains a major global health concern and a leading cause of cancer-related deaths among women. Early detection and effective treatment are essential in improving patient survival. Advances in omics technologies have provided deeper insights into the molecular mechanisms underlying breast cancer.

The phenotypic spectrum of deficiency.

The gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of pathogenic variants by describing an early-onset patient with Leigh-like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34-year-old male and his 33-year-old sister both have horizontal nystagmus, pronounced rough tremor, truncal ataxia, dysmetria, spasticity and hyperreflexia.

A novel missense mutation in causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Background: Iron-sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression. Currently, most of the reported patients are from Saudi Arabia.

The Effect of Different Adaptation Formulas on Mid-Latency Auditory Evoked Potentials in Adults with Hearing Aids.

Introduction: We were conducting this study to evaluate the effects of different hearing aid adaptation formulas on middle latency responses (MLR) in adult hearing aid users.

Methods: The study included 72 participants: those with moderate hearing loss using hearing aids with two different formulas for the last year, those with moderate hearing loss not using hearing aids, and those without hearing loss. Sixteen participants using NAL-NL1 and NAL-RP formulas were group 1; twenty using NAL-NL2 and DSL formulas were group 2; fifteen with hearing loss not using devices were group 3; and twenty-one without hearing loss were group 4.

VI-RADS-based Algorithm for Bladder Cancer Management Randomized Retrospective Study.

Objective: To evaluate if VI-RADS can distinguish between nonmuscle-invasive bladder cancers (NMIBC), muscle-invasive bladder cancer (MIBC), and high-risk nonmuscle-invasive bladder cancers (HR-NMIBCs). It is unclear if the Vesical Imaging-Reporting and Data System (VI-RADS) can replace repeated transurethral resection of bladder tumor (Re-TURBT) as in the new VI-RADS-based algorithm.

Methods: Sensitivity, specificity, and positive (PPV) and negative (NPV) predictive values of the VI-RADS score were calculated for mpMRI performance in patients undergoing TURBT and HR-NMIBC patients for only Re-TURBT.

Is orthorexia nervosa a hidden threat impacting quality of life in IBS patients?

Backgrounds: The potential link between functional gastrointestinal disorders and eating disorders has been reported recently.

Aims: The present study aimed to explore the relationship between orthorexic tendencies and irritable bowel syndrome (IBS)-related quality of life in IBS patients.

Method: This cross-sectional study was conducted with 121 IBS patients.

A Classification for Gastric Outlet Obstruction in Childhood: Extending Beyond Infantile Hypertrophic Pyloric Stenosis.

Background/aims:  Gastric outlet obstruction (GOO) is a rare condition in childhood, with the exception of infantile hypertrophic pyloric stenosis (IHPS). However, no classification exists from a pediatric gastroenterologist's perspective.

Materials And Methods:  The patients with a diagnosis of GOO between 2009 and 2020 were reviewed retrospectively.

Robust peroxidase from Bacillus mojavensis TH309: Immobilization on walnut shell hydrochar and evaluation of its potential in dye decolorization.

Peroxidases have received considerable attention as a cost-effective and environmentally friendly catalyst for bioremediation. Their rapid activity loss under harsh environmental conditions and inability to be used repetitively limit their exploitation in real-world wastewater treatment. First, a peroxidase was produced extracellularly by Bacillus mojavensis TH309 and purified 8.

Investigation of nursing students' knowledge levels and attitudes in incontinence-associated dermatitis management through game-based learning: a mixed methods study.

Purpose: This study aimed to assess nursing students' knowledge levels and attitudes towards the etiology, risk factors, and preventive measures of incontinence-associated dermatitis (IAD) using an escape room game.

Design: A mixed-method study.

Subjects And Setting: The sample size of the study was 32 students.

Tumor phylogeography reveals block-shaped spatial heterogeneity and the mode of evolution in Hepatocellular Carcinoma.

Solid tumors are complex ecosystems with heterogeneous 3D structures, but the spatial intra-tumor heterogeneity (sITH) at the macroscopic (i.e., whole tumor) level is under-explored.

The effect of fathers' birth attendance on paternal attachment and the perception of parental role: a randomised controlled trial.

Background: Fathers' birth attendance is associated with support for mothers in infant care, positive child health outcomes, and parental well-being.

Objective: This study was conducted in a randomised controlled experimental design to investigate the effect of fathers' birth attendance on paternal-infant attachment and the perception of parental role.

Methodology: Pregnant women during the childbirth process and their husbands were included in the study and were randomised according to fathers' birth attendance.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B : a missense substitution [NM_130466.

Phenylketonuria from the perspectives of patients in Türkiye.

Background: The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and implementations on PKU.

Methods: The study included patients diagnosed with PKU and/or their parents. They were informed about the study via phone calls and their verbal consents were obtained.

Recurrent idiopathic hypertrophic pachymeningitis with chronic headache and cranial nerve involvement.

Idiopathic hypertrophic pachymeningitis is a rare, fibrosing inflammatory disease that causes localized or diffuse thickening of the dura mater in the brain and/or spinal cord. It may be cranial, spinal, and/or craniospinal pachymeningitis depending on the place of involvement. In our case, a 34-year-old woman presented with sixth cranial nerve involvement and headache and was diagnosed with idiopathic hypertrophic pachymeningitis as a result of the exclusion of other causes and central nervous system imaging.

Tumefactive multiple sclerosis.

Tumefactive multiple sclerosis (MS) is a subtype of atypical and rare MS that presents with tumor-like lesions in the central nervous system. The lesions may demonstrate a mass effect, edema, with ring enhancement. They can be mistaken for brain tumors or brain abscesses radiologically and clinically.

Alcohol-free synthesis, biological assessment, in vivo toxicological evaluation, and in silico analysis of novel silane quaternary ammonium compounds differing in structure and chain length as promising disinfectants.

Quaternary ammonium compounds (QACs) are commonly used as disinfectants for industrial, medical, and residential applications. However, adverse health outcomes have been reported. Therefore, biocompatible disinfectants must be developed to reduce these adverse effects.

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently, biallelic variants in GGPS1 were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in GGPS1.