Publications by authors named "Tijen Tanyalcin"
Article Synopsis
- Biotin is a water-soluble vitamin essential for carboxylation, and its deficiency (biotinidase deficiency, BD) can be classified as partial or profound depending on serum enzyme activity levels.
- A study involving 302 patients in eastern Türkiye assessed various factors such as age, family history, and genetic mutations related to BD, with the majority diagnosed through neonatal screening.
- The research identified 306 variants of the BTD gene, with the most common genetic mutations being c.410G>A (p.Arg137His) and c.1270G>C (p.Asp424His), and specific genotypes were linked to more severe deficiency symptoms.
Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFMutations in BTD gene causing biotinidase deficiency: a regional report.
J Pediatr Endocrinol Metab
March 2015
Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. Children with biotinidase deficiency cannot cleave biocytin and, therefore, cannot recycle biotin. Untreated individuals become secondarily biotin deficient, which in turn results in decreased activities of the biotin-dependent carboxylases and the subsequent accumulation of toxic metabolites causing clinical symptoms.
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- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
Constructive effect of exogenous melatonin against osteoporosis after ovariectomy in rats.
Anal Quant Cytol Histol
October 2007
Objective: To analyze histomorphometric, densitometric and biochemical effects of melatonin on osteoporosis in ovariectomized rats.
Study Design: Wistar rats were divided into 6 groups. Group C: control; Group I: bilateral ovariectomy (OVX); Group II: OVX + vehicle; Group III: OVX + 10 mg/kg/day melatonin (MLT); Group IV: OVX + 30 mg/kg/day MLT; Group V: sham + 10 mg/kg/day MLT.
Objectives: Leptin has a significant role in body weight regulation and energy balance. We examined the effect of tibolone on the body weight and serum leptin levels in postmenopausal women.
Study Design: Twenty women (aged 43-60 years) participated in this prospective study.
Objective: To determine the changes in endometrium and serum leptin levels during the periimplantation period of the ovum in the rat in response to exogenous ovarian stimulation by hMG and recombinant FSH (rFSH).
Design: Experimental animal study.
Setting: University hospital.
Urinary glycosaminoglycans (GAG) and heparan sulfate (HS) are considered to be markers of early renal involvement. This study was undertaken to demonstrate their excretion patterns in rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) with and without arthritis. Serum creatinine and urinary GAG, HS, microalbumin, and creatinine measurements were made in 51 biopsy-proven lupus nephritis (LN) cases, 12 RA patients, and 21 healthy controls.
View Article and Find Full Text PDFWe aimed to evaluate the protective effects of pentoxifylline on alcohol-induced gastric injury, its relation with nitric oxide and prostaglandin synthesis, as well as gastric acidity in rats. Acute gastric mucosal injury was induced by intragastric infusion of 2 ml 98% alcohol. Pentoxifylline was given at 100 mg/kg intraperitoneally.
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