A Novel Homozygous Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Introduction: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process.

Case Presentation: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances.

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia.

The First Case Report of 47,XXY/46,XX/46,XY Mosaic Klinefelter Syndrome Patient With Mixed Connective Tissue Disorder.

Klinefelter syndrome (KS) mosaicism 47,XXY/46,XX/46,XY is an extremely rare disorder. Mixed connective tissue disorder (MCTD) is a systemic rheumatological disease with overlapping characteristic features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM)/dermatomyositis (DM), and rheumatoid arthritis (RA). It contains a higher titer level of U1-RNP and anti-RNP antibodies.

Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the gene.

Purpose: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation.

Methods: A case report.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.

Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in gene.

Purpose: SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome with findings of pigmentary retinopathy.

Should chromosomal analysis be performed routinely during the baseline evaluation of the gender affirmation process? The outcomes of a large cohort of gender dysphoric individuals.

The role of genetics in the etiology of gender dysphoria (GD) is an important yet understudied area. Yet whether genetic analysis should be carried out during the gender affirmation process at all is a matter of debate. This study aims to evaluate the cytogenetic and molecular genetic findings of individuals with GD.

The effect of medicarpin on PTEN/AKT signal pathway in head and neck squamous cell carcinoma.

Background/aim: We aimed to investigate the in vitro modulating effects of medicarpin on the PI3K/AKT signal pathway gene expressions in head and neck squamous cell carcinoma (HNSCC).

Materials And Methods: The effect of medicarpin on PTEN and other associated genes in the PTEN/AKT signal pathway was investigated by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide, real-time quantitative polymerase chain reaction, and Western blot analysis in the SCCL-MT1 (HNSCC) and control (HEK-293) cell lines.

Results: The IC50 dose was 80 μM as a result of medicarpin treatment on HNSCC cells (P = 0.

Radiation exposure in pregnancy: outcomes, perceptions and teratological counseling in Turkish women.

Background: Fetal effects of radiation are associated with the gestational week of exposure, dose, and duration of exposure, but the perception of risk of radiation in expecting mothers is greater than the actual risk of physical effects.

Objectives: Evaluate the overestimation of the teratogenic risk in women exposed to radiation and the role of teratological counseling in minimizing preconceptions.

Design: Analytical, cross-sectional.

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

 Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and parietal bossing, hypertelorism, brachycephaly, short stature, supernumerary, and late erupting teeth. Radiographic studies can reveal involvement of multiple bones including skull, chest, pelvis, and limbs.

Determination of cytokine profile and associated genes of the signaling pathway in HNSCC.

Head and neck squamose cell carcinoma (HNSCC) is an aggressive group of tumors that are generally heterogeneous. Despite treatment advances, disease-free survival has not significantly improved. Therefore, it is of great importance to understand the molecular etiology of HNSCC and genetic alterations in the signal pathways in order to develop new therapeutic approaches.

Co-existing bipolar disease and 17q12 deletion: a rare case report.

Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.

Ameliorative effects of garlic oil on FNDC5 and irisin sensitivity in liver of streptozotocin-induced diabetic rats.

Objectives: This study was aimed to investigate the effects of garlic oil (GO), an important natural constituent used in alleviating diabetes and its complications, on the expression levels of irisin and related genes.

Methods: Thirty-two rats were divided into four groups: Control, Diabetes-Control, Diabetes+GO 100 mg/kg/day and Control+GO 100 mg/kg/day for 45 days. The measurements included: changes in liver Peroxisome proliferator-activated receptor-gamma-coactivator (PGC)-1α, Fibronectin Type-III-Domain-Containing5 (FNDC5), irisin expression, mRNA expression of p38 and TNF-α (Tumour necrosis factor-α), total-antioxidant-status (L-TAS; S-TAS), total-oxidant-status (L-TOS; S-TOS) in liver and serum, respectively.

Evaluation of rs1143634 and rs1800796 Polymorphisms with Autism Spectrum Disorder in the Turkish Children.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder caused by genetic, environmental and immunological factors. It is known that neural development processes are affected by immune functions. The aim of this study is to evaluate the relationship between cytokines and gene polymorphisms in ASD.

Anti-inflammatory effects of nobiletin on TLR4/TRIF/IRF3 and TLR9/IRF7 signaling pathways in prostate cancer cells.

Toll-like receptors (TLRs) are often expressed in natural immune cells as well as in tumor cells. TLR4 exhibits both tumor promoting and tumor-suppressing roles and higher TLR9 expression is an important marker of poor prognosis in prostate cancer (PCa). Nobiletin (NOB) is an O-methylated flavonoid and NOB has been proven to have anti-cancer effect in PCa cells.

The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome.

Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet.

Three novel mutations in 20 patients with hereditary spastic paraparesis.

Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis.

Altered Plasma MicroRNA Expression in Patients with Mitral Chordae Tendineae Rupture.

Background: Mitral chordae tendineae rupture (MCTR) is a progressive disorder which leads to severe mitral regurgitation. Despite its importance, the precise pathogenetic mechanism of MCTR remains unclear. The study aim was to investigate the expression profile of circulating microRNAs (miRNAs) as being potentially involved in the development of MCTR.

DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture.

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study.