[Patellofemoral joint dynamics in patients with gonarthrosis].

Objectives: Although the tibiofemoral joint has been evaluated in most of the gonarthrosis studies, the relationships between gonarthrosis and the patellofemoral joint have usually been disregarded. In this study, the dynamics of the patellofemoral joint in gonarthrosis has been evaluated

Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia

Abstract Objective Biotinidase deficiency (BTD) is characterized by a wide range of genetic variants. However, the correlation between these variants and the biochemical phenotypes of BTD is not well-established due to the diversity of the BTD gene, the variable nature of biotinidase, and difficulties in measuring enzyme activity. This study aims to identify BTD gene variants in newborns screened for biotinidase deficiency in Southeastern Anatolia and to examine the correlation between these variants and biochemical phenotypes. Materials and methods BTD variant analysis and biotinidase enzyme (BT) activity measurements were performed on 711 newborns. Enzyme activity was measured using the colorimetric method. Biochemical phenotyping was categorized into three groups based on mean residual enzyme activity: profound (≤ 10%), partial (10.1–30%), and normal (> 30.1%). The pathogenicity of BTD gene variants was determined using BTD databases. Results The biochemical phenotypes were distributed as follows: a) profound: n = 22 (3%), b) partial: n = 95 (13.3%), and c) normal: n = 594 (83.7%). The mean enzyme activities (%) for these groups were 8.79 ± 1.87, 22.67 ± 4.55, and 97.98 ± 17.45, respectively. The most common alleles and their frequencies were p.D444H (n = 526) (37%), p.R157H (n = 172) (12.1%), and p.C33Ffster*36 (n = 73) (9%). The pathogenicity of the variants was as follows: pathogenic: 481 (33.8%), likely pathogenic: 4 (0.2%), and variant of uncertain significance (VUS): 538 (37.8%). Conclusion In this large cohort in Southeastern Anatolia, the most common alleles were p.D444H, p.R157H, and p.C33Ffster*36 in BTD variants. The results indicate a low concordance between the biochemical phenotype and genotype in newborns with BTD. This study highlights the inadequacy of predicting the biochemical phenotype based solely on variant pathogenicity in biotinidase deficiency during the neonatal period

Investigation of cognitive functions with Wechsler Adult Intelligence Scale's comprehension subtest and Mini-Mental State Examination in patients with end-stage renal diseases

WOS: 000364786400232

Comparison of physical examination and MRI for the diagnosis of intraarticular knee pathologies: analysis of 968 knees

BACKGROUND: It is very important to evaluate intraarticular knee pathologies carefully to make a proper diagnosis. The most important diagnostic tools are history-taking, physical examination including special knee tests, and radiology including magnetic resonance imaging. The purpose of this study is to make a comparison between physical examination and magnetic resonance imaging for intraarticular knee pathologies before knee arthroscopy which is accepted as the gold standard for these types of pathologies

Correlation between vitamin D status and Wechsler Adult Intelligence Scale's comprehension subtest in patient with end-stage renal diseases

WOS: 000379514000214

Autoimmune thyroiditis in children and adolescents with type 1 diabetes mellitus is associated with elevated IgG4 but not with low vitamin D

OBJECTIVE: To assess levels of vitamin D and of immunoglobulin G subclasses in children and adolescents with type 1 Diabetes Mellitus with or without autoimmune thyroiditis. DESIGN: Among 213 patients with type 1 diabetes, the cases with thyroid-specific autoantibodies formed Group 1 [n=19, M/F: 7/12, median age 13 years (10.1-14.7)]. Nineteen age-, gender-, and diabetes duration-matched cases with type 1 diabetes without any other systemic disease were designated as controls [Group 2, M/F: 7/12, median age 12.9 years (10.5-14.9)]. RESULTS: Levels of thyroid hormones, vitamin D, total IgG and IgG subclasses, as well as IgG subclasses/total IgG ratios were similar between the groups. Five cases (26%) in Group 1 had IgG4 levels > + 2 SDS, whereas there were no such cases in Group 2 (p=0.046). These five patients had similar clinical features but higher median IgG4 levels and IgG4/Total IgG ratios compared to the subjects with IgG4 levels < + 2 SDS in Group 1 and Group 2. CONCLUSIONS: There was no difference of vitamin D levels between the groups. Only a small percentage of patients with type 1 diabetes also having autoimmune thyroiditis had elevated serum IgG4 levels, revealing the heterogeneity of autoimmune thyroiditis and existence of IgG4 thyroiditis in the pediatric age group. Total IgG, the other IgG subclasses, and vitamin D levels did not differ in patients with autoimmune thyroiditis and type 1 diabetes compared to those suffering only from type 1 diabetes

Investigation of Cognitive Functions with Wechsler Adult Intelligence Scale's Comprehension Subtest and Mini-Mental State Examination in Patient with End-Stage Renal Diseases

WOS: 000360810100111