Girls who experienced early menarche are significantly more often overweight/obese. Overweight/obesity may be considered as one of the predictors for the early occurrence of menarche.
We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints in the cell cycle, gene regulation, translation, initiation, and telomere maintenance. There are a few articles that describe deficiency of the DNA repair enzyme, ATM, in rheumatoid arthritis, but the connection between the absence of ATM protein and JIA has not been presented or studied yet. JIA is a heterogeneous group of diseases characterized by arthritis of unknown origin with onset before the age of 16 years. It is the most common childhood chronic rheumatic disease and causes significant disability. Because immunodeficiency can be part of A-T, infectious arthritis can occur, but chronic autoimmune arthritis in these patients is rare. We report a rare case of a 15-year-old boy with A-T and JIA. This case shows a possible relationship between altered function of ATM protein and the pathogenesis of JIA.
Angle parameters proposed by Graf and linear parameters introduced by Morin are the most common currently in use for quantification and classification of ultrasonographic findings in the diagnosis of developmental dysplasia of the hip. The aim of this study was to determine which of the two parameters is more suited to routine clinical use. Investigation was carried out on 100 hips of 50 infants by the same examiner who obtained two separate sonograms for each hip. Based on the results of our study, angle parameters appear to be more functional in identifying and classifying pathology, and more adequate for screening and diagnosis.
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