Publications by authors named "Altınok Y"

Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria.

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Background: Sarcopenia is a progressive and generalized skeletal muscle disorder. Early diagnosis is necessary to reduce the adverse effects and consequences of sarcopenia, which can help prevent and manage it in a timely manner. The aim of this study was to identify the important risk factors for sarcopenia diagnosis and compare the performance of machine learning (ML) algorithms in the early detection of potential sarcopenia.

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Article Synopsis
  • Galactose mutarotase (GALM) deficiency is a rare inherited metabolic disorder linked to issues in the Leloir pathway, with only eight cases reported since its discovery in 2018.
  • Two siblings were studied, one with cataracts indicative of GALM deficiency and another who was asymptomatic, yet both had the same genetic mutation (p. Gly277Arg) in the GALM gene.
  • The research emphasizes the need for comprehensive evaluation of galactose metabolism in patients, especially those presenting with cataracts, to accurately diagnose and understand GALM deficiency.
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The novel coronavirus disease (COVID-19) has emerged as a global pandemic. This was a prospective, case-control study conducted in Izmir, Turkey. The aim of this study was to assess the relationship between COVID-19 and new-onset T1DM.

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Objectives: Glycated hemoglobin (HbA1c) has proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to microvascular complications was evaluated.

Methods: Twenty-one cases with type 1 diabetes mellitus (T1DM) who developed microvascular complications and 39 cases without complications, that were similar in terms of gender, age of diagnosis, insulin treatment, insulin doses (U/kg), and mean HbA1c levels were included.

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Objectives: This study aimed to determine the effects of continuous subcutaneous insulin infusion (CSII) treatment on anthropometric measurements, mean HbA1c, and insulin dosage in patients diagnosed under 5 years of age and compare with multiple-dose injection therapy (MDI).

Methods: Children with type 1 diabetes mellitus, diagnosed <5 years since 2000 and their 19-year follow-up were evaluated retrospectively. Weight, height, body mass index (BMI), blood pressure, and HbA1c values were recorded for each visit.

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Unlabelled: Argininosuccinate lyase deficiency (ASLD) is a urea cycle disorder (UCD) treated with dietary adjustment and nitrogen scavenging agents. "Pheburane(®)" is a new tasteless and odour-free formulation of sodium phenylbutyrate, indicated in the treatment of UCD.A male patient diagnosed with ASLD was put on treatment with the new formulation of sodium phenylbutyrate (granules) for a period of one year, at 500 mg/kg orally in 3 intakes/day.

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