19 hasil untuk "Arsov Todor"
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GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM
The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease) was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy) and movement disorders. The biochemical parameters of this…
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Sex in recent gender policies: Interdisciplinary reflections on the X v. North Macedonia case before the ECTHR
This article was initially prompted by the inconsistent use of the terms sex and gender in the landmark case X v. the Former Yugoslav Republic of Macedonia (now Republic of North Macedonia) before the European Court of Human Rights (ECtHR). Although the judgment was delivered several years ago…
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Factor V Leiden Is Associated with Higher Risk of Deep Venous Thrombosis of Large Blood Vessels
AIM: To determine the prevalence of factor V Leiden mutation in patients with different presentation of venous thromboembolic disease and healthy individuals in the Republic of Macedonia. METHODS: The retrospective case-control study involved 190 patients with venous thromboembolic disease and 200…
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Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones
BACKGROUND: Resistance to thyroid hormones is a very rare condition, which is often misdiagnosed and mistreated. The cases where there is a concomitant autoimmune thyroid disorder are ultra-rare and particularly challenging to treat. Diagnostic and research-based genomic testing can sometimes…
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The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus
The pathogenesis of childhood-onset systemic lupus erythematosus (cSLE) is complex and not fully understood. It involves three key factors: genetic risk factors, epigenetic mechanisms, and environmental triggers. Genetic factors play a significant role in the development of the disease…
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A single dose of BNT162b2 vaccine elicits strong humoral response in SARS‐CoV‐2 seropositive individuals
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A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker–Warburg-like Features
Tubulinopathies are associated with malformations of cortical development but not Walker–Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker–Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter…
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Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
INTRODUCTION: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation…
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Association of Methylenetetrahydrofolate Reductase (MTHFR-677 and MTHFR-1298) Genetic Polymorphisms with Occlusive Artery Disease and Deep Venous Thrombosis in Macedonians
AIM: To analyze the association of methylenetetrahydrofolate reductase polymorphisms (MTHFR-677 and MTHFR-1298) with occlusive artery disease and deep venous thrombosis in Macedonians. METHODS: We examined 83 healthy respondents, 76 patients with occlusive artery disease, and 67 patients with deep…
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Association of Cytokine Gene Polymorphisms with Bronchial Asthma in Macedonians
Bronchial asthma is a multifactorial disease whereby both environmental and genetic factors contribute to its aetiology and/or clinical severity. The aim of this study was to examine the association of 22 cytokine gene polymorphism in the Macedonian population with bronchial asthma (BA). The sample…
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Influence of the elevated ambient temperature on immunoglobulin G and immunoglobulin G subclasses in sera of Wistar rats
The aim of our research was to examine changes in the immune system of the rats influenced by the elevated ambient temperature. Male Wistar rats were divided, into 2 groups and housed at 20 ± 2°C (n=64, control group) and 35 ± 1°C (n=74, experimental group), during precise timing of 1, 4, 7, 14…
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Trio whole exome sequencing in Chinese childhood-onset lupus reveals novel candidate genes
OBJECTIVES: Systemic lupus erythematosus (SLE) is an autoimmune disease in which rare and common gene variants contribute to pathogenesis. Severe sporadic disease in children is often explained by ‘de novo’ variants that can be uncovered by trio sequencing. METHODS: Whole exome sequencing was…
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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and…
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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive…
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P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance
B cell self-tolerance is maintained through multiple checkpoints, including restraints on intracellular signaling and cell trafficking. P2RY8 is a receptor with established roles in germinal center (GC) B cell migration inhibition and growth regulation. Somatic P2RY8 variants are common in…
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Infanticide vs. inherited cardiac arrhythmias
AIMS: In 2003, an Australian woman was convicted by a jury of smothering and killing her four children over a 10-year period. Each child died suddenly and unexpectedly during a sleep period, at ages ranging from 19 days to 18 months. In 2019 we were asked to investigate if a genetic cause could…
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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases, while the contribution of rare variants remains unclear. Here we describe that rare coding…
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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease
Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individual. In this retrospective study, we describe individuals in…