Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Introduction: Lipoid proteinosis (LP), a rare autosomal recessive disorder typified by generalized thickening of the skin, mucosa, and certain viscera, is associated with pathogenic variants. Skin lesions like beaded eyelid papules, acneiform scars, wavy, yellow papules and nodules typically appear in early childhood. Some patients may exhibit neurological abnormalities like temporal lobe or hippocampi-amygdala complex calcification, epilepsy, and neuropsychiatric abnormalities.

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy is pivotal for attenuating progressive and irreversible neurodegeneration. This study aimed to benchmark the performance of Oxford Nanopore long-read sequencing (ONT-LRS) for targeted mutation detection in a Turkish CLN2 cohort and to assess its concordance with orthogonal validation methods, including Sanger sequencing and enzymatic activity assays.

An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated PKU results in progressive neurodegeneration and severe intellectual disability. Neonatal screening has evolved from the Guthrie test to advanced techniques like HPLC, tandem mass spectrometry, and next-generation sequencing (NGS) for molecular confirmation.

Heat shock protein 70 levels in children with nephrotic syndrome.

Background: Idiopathic nephrotic syndrome (NS) is the most prevalent glomerular disease in children. Heat shock protein 70 (HSP70) is synthesized in response to diverse stress factors like infections and oxidative stress. We aimed to evaluate serum and urine levels of HSP70 in children with steroid-sensitive nephrotic syndrome (SSNS) and to assess changes in HSP70 levels with prednisolone treatment.

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.

Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).

Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.

Cystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in the transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms in CBSD. This study aims to evaluate mitochondrial dysfunction and oxidative stress biomarkers in cystathionine beta-synthase deficiency (CBSD) patients, which may aid in understanding the pathogenesis of CBSD and improving treatment.

Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

Objective: Endocrine abnormalities may be the only clinical manifestation of primary mitochondrial disorders. The aim of this study was to evaluate the endocrinological characteristics of mitochondrial disease (MD) in a cohort from a single center.

Methods: Pediatric patients diagnosed with MD were categorized on the basis of their specific genetic abnormalities.

Effect of Diet before Bariatric Surgery on Ghrelin Level through DNA Methylation.

Introduction: The ghrelin system, which generates the appetite hormone, is harmed by obesity, a problem of worldwide public health. An efficient way to cure obesity is through bariatric surgery. This randomized controlled study's objective was to assess preoperative diet-related DNA methylation of Ghrelin (GHRL) levels in patients undergoing bariatric surgery.

The effect of mesenchymal stem cells administration on DNA repair gene expressions in critically ill COVID-19 patients: prospective controlled study.

When the studies are evaluated, immunomodulatory effect of MSCs, administration in critically ill patients, obstacle situations in use and side effects, pulmonary fibrosis prevention, which stem cells and their products, regeneration effect, administration route, and dosage are listed under the main heading like. The effect of MSC administration on DNA repair genes in COVID-19 infection is unknown. Our aim is to determine the effect of mesenchymal stem cells (MSCs) therapy applied in critically ill patients with coronavirus infection on DNA repair pathways and genes associated with those pathways.

The relationship between urine heat shock protein 70 and congenital anomalies of the kidney and urinary tract: UTILISE study.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are defined as structural malformations of the kidney and/or urinary tract. Heat shock proteins (HSPs) are expressed in the kidney in response to cellular changes, such as thermal, hemodynamic, osmotic, inflammatory, and mechanical stresses. This study aimed to assess uHSP70 levels during acute urinary tract infections (UTI) and non-infection periods in patients with CAKUT, and to evaluate whether uHSP70 is elevated in CAKUT subtypes.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic variants shown in nuclear or mitochondrial genomes that affect vital respiratory chain function. The development of high-throughput sequencing technologies has accelerated the elucidation of the genetic etiology of many genetic diseases that previously remained undiagnosed.

Evaluation of HSP70 levels in ectopic pregnancy, abortus imminens and intrauterine pregnancy.

To assess the serum levels of HSP70 concentrations in ectopic pregnancy (EP) patients compared with abortus imminens (AI) patients and healthy controls. Age-matched patients were divided into three groups, with 30 patients in each group: EP, AI and healthy intrauterine pregnancy groups. Blood samples were taken from the antecubital vein and kept for HSP70 analysis.

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

Objective: Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging from sudden-onset infantile DCM to adult-onset cardiomyopathy, sometimes of the restrictive hypertrophic form with a poor prognosis. We aimed to evaluate severe cardiomyopathy in Alström syndrome in infancy and display susceptible specific mutations of the disease, which may be linked to severe DCM.

The Effect of Host miRNAs on Prognosis in COVID-19: miRNA-155 May Promote Severity via Targeting Suppressor of Cytokine Signaling 1 () Gene.

The epigenetic features contribute to variations in host susceptibility to SARS-CoV-2 infection and severity of symptoms. This study aimed to evaluate the relationship between the relative expression of microRNAs (miRNAs) and the severity of the disease in COVID-19 patients. The miRNA profiles were monitored during the different stages of the disease course using reverse transcription-quantitative polymerase chain reaction (RT-qPCR).

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype-phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases.

Role of soluble triggering receptor expressed in myeloid cells-1 in distinguishing SIRS, sepsis, and septic shock in the pediatric intensive care unit.

Background: Research into new markers has been intensified for early diagnosis, prognosis, and differentiation of SIRS, sepsis, and septic shock in recent years. This study aimed to investigate the role of soluble triggering receptor expressed in myeloid cells-1 (sTREM-1) and interleukin (IL)-6 in distinguishing between systemic inflammatory response syndrome (SIRS), sepsis, and septic shock in pediatric intensive care unit (PICU) patients.

Methods: Between June 2014 and July 2015, 90 consecutive patients who were treated in the PICU were included in this prospective observational study.

Serum prolidase activity in patients with cardiac syndrome X.

Objective: Although the underlying mechanism is not yet fully understood, Cardiac Syndrome X (CSX) is defined as microvascular dysfunction. Prolidase plays a role in collagen synthesis. Increased serum prolidase activity (SPA) has been shown to correlate with collagen turnover.

Endocan as a predictor of increased cardiovascular risk during the menopausal transition period.

Purpose: Our aim was to investigate the serum endocan levels and carotid artery intima-media thickness (CIMT) measurements of pre- and postmenopausal patients to clarify the relationship between the menopausal transition and endothelial injury.

Methods: This cross-sectional study was conducted on women who were premenopausal and postmenopausal between January 2019 and June 2019. The patients were divided into two groups according to premenopausal (n = 32) and postmenopausal (n = 32) status.

Serum Levels and Urinary Excretion of Tenascin-C and TIMP-1 in Acute Kidney Injury.

Background: Both the extracellular matrix molecule tenascin-C (Tn-C) and tissue inhibitors of metalloproteinases (TIMPs) have a role in tissue injury, inflammation, and remodeling. In this pilot study, we tried to evaluate the role of these markers in acute kidney injury (AKI).

Methods: A total of 52 subjects were enrolled in this study.