13 research outputs found
Hipertrigliseridemiye Bağlı Tekrarlayan Pankreatit ve Splenik Ven Trombozu Gelişen Gebe Olgu
YENİ AGPAT2 MUTASYONU 144 CA HOM SAPTANAN KONJENİTAL JENERALİZE LİPODİSTROFİ OLGULARINDA DİYABETİK NEFROPATİ DIŞI BÖBREK TUTULUMU
Plasma Levels of Antioxidant Vitamins in Patients with Acromegaly: A Case-Control Study
OBJECTIVE: The aim of this study was to compare antioxidant vitamin C and vitamin E levels in the non-acromegaly control group and in patients with acromegaly with and without remission
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE
Objective: High triglyceride (TG) levels are associated with an increased risk for atherosclerotic cardiovascular disease (ASCVD) and pancreatitis. The objectives for this study were to evaluate for the coexistence of severe HTG and pancreatitis in two different geographic regions of Turkey and to identify rare variants that cause monogenic HTG in our country. Methods: In our study from 2014 to 2019, patients with severe HTG who presented to the endocrinology outpatient clinics with TG levels >500 mg/dL (5.7 mmol/L) were evaluated. The LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE genes were sequenced using next generation sequencing to screen for potentially pathogenic variants. Results: Potentially pathogenic variants were identified in 64 (47.1%) of 136 patients. Variants in LPL were seen in 42 (30.9%) cases, APOA5 variants in 10 (7.4%) cases, APOC2 variants in 5 (3.7%) cases, LMF1 variants in 5 (3.7%) cases, and APOE mutations in 2 (1.5%) cases. In the subgroup that experienced pancreatitis (n = 76, 56.3%), LPL variants were seen at higher frequency (P <0.001) than in the subgroup with no history of pancreatitis (n = 60, 43.7%). Patients who developed pancreatitis (56.3%) demonstrated a median TG of 2083 mg/dL (23.5 mmol/L), and patients without pancreatitis (43.7%) demonstrated a median TG of 1244.5 mg/dL (14.1 mmol/L) (P <0.001). Conclusion: Accurate approach to HTG diagnosis is important for the prevention of pancreatitis and ASCVD. Evaluation of variants in primary HTG after excluding secondary causes may help provide a patient-centric precision treatment plan
Konjeni tal Jenerali ze Li podi strofi Olgusunda Türki ye de İlk Metrelepti n Uygulaması iİlk 6 ay Sonuçlarımız
Rezidü Yağ Karakteristiklerinin Belirlenmesi Lipodistrofide Subtiplerin Tanınmasında Yardımcıdır
Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities
Objective. Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes
Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy
Background/Aims: Lipodystrophy is a rare metabolic disorder characterized by a near-total or partial lack of subcutaneous adipose tissue and is associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy (MRS) imaging to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between liver fat accumulation and clinical presentations of lipodystrophy. Materials an