LAM KID

[Genetic possibilities in osteology]

ÁRVAI Kristóf1, KÓSA János Pál1

MARCH 30, 2013

LAM KID - 2013;3(01)

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika, PentaCore Laboratórium

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Further articles in this publication

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[Osseal and extraosseal effects of vitamin D]

GAÁL János

[The author reviews the literature on the osseal and extraosseal effects of vitamin D, discussing the role of vitamin D sufficiency in the maintenance of normal bone structure and bone mass, in fracture prevention and in the efficacy on antiporotic treatment. The effects of vitamin D on hemopoiesis, tumours, muscles, articular cartilage, lungs, cardiovascular system, central nervous system, skin and certain metabolic disorders are also discussed. The paper particularly emphasises and describes on a cellular level the immune-modulating effect of vitamin D and its influence on autoimmune disorders.]

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[The role of bone turnover markers in the diagnosis and therapy of osteoporosis]

HONTVÁRI Lívia, KRÁNICZ Ágota

[Osteoporosis is a metabolic bone diseasecharacterised by decreased bone mass andimpaired bone turnover, which leads to anincreased risk of fractures and significantmorbidity and mortality. Its social and pub-lic health impact and the importance of itsearly and accurate diagnosis are indis-putable. The aim of timely and efficienttherapy is to improve bone quality as wellas to prevent the dreaded complications ofbone fractures. In clinical practice, labora-tory diagnosis of biochemical bone mark-ers are particularly important for therapeu-tic monitoring. In this article, reviewing lit-erature data, we discuss bone-specificmarkers from the clinician’s perspective,and highlight their importance in everydayclinical practice. ]

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Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

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