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1.
Arch. endocrinol. metab. (Online) ; 64(6): 720-725, Nov.-Dec. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1142202

RESUMO

ABSTRACT Objective: Evaluate ferritin levels in children and adolescents with type 1 diabetes mellitus and its relation to diabetic microvascular complications, and metabolic control. Subjects and methods: This study included 180 children and adolescents with type 1 diabetes mellitus (T1DM) with a mean age of 14.9 ± 3.1 years and 180 apparently normal children matched for age and sex (control group). All children were evaluated with full history taking, thorough clinical examination, laboratory assessment of high-sensitivity C-reactive protein and hemoglobin A1c (HbA1c), and evaluation of the presence of microvascular complications. Serum ferritin levels were measured using electrochemiluminescence immunoassay. The patients were divided into two groups according to the presence or absence of microvascular complications. Results: Serum ferritin levels were significantly higher in patients with T1DM in both groups compared with healthy controls (p < 0.001). Additionally, patients with microvascular complications had higher serum ferritin concentrations than those without microvascular complications (p < 0.001). Patients with microalbuminuria showed higher ferritin levels compared with patients without microalbuminuria (p < 0.05). Stepwise regression analysis revealed that levels of HbA1c and urinary albumin excretion were independently related to ferritin levels (p < 0.001 for both). On receiver operating characteristic (ROC) curve analysis, a ferritin cutoff value of 163.6 ng/mL differentiated patients with microvascular complications from those without microvascular complications with a sensitivity of 92.1% and specificity of 93.4%. Conclusion: Serum ferritin levels are elevated in T1DM, particularly in patients with microvascular complications.


Assuntos
Humanos , Criança , Adolescente , Diabetes Mellitus Tipo 1 , Hemoglobinas Glicadas/análise , Albuminúria , Ferritinas , Controle Glicêmico
2.
Indian J Hum Genet ; 2014 Jan-Mar ;20 (1): 75-78
Artigo em Inglês | IMSEAR | ID: sea-156638

RESUMO

Berardinelli‑Seip syndrome type 1 or Berardinelli‑Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12‑year‑old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.


Assuntos
/diagnóstico , Anormalidades Múltiplas/epidemiologia , Acromegalia/diagnóstico , Acromegalia/epidemiologia , Criança , Diabetes Mellitus/complicações , Egito , Humanos , Hipertrigliceridemia , /diagnóstico , /epidemiologia
3.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 472-474
Artigo em Inglês | IMSEAR | ID: sea-156617

RESUMO

A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Here, we describe a AEXS presenting with prepubertal gynecomastia in an Egyptian child with NF1 that improved with aromatase inhibitors.


Assuntos
Aromatase/genética , Pré-Escolar , Egito/epidemiologia , Ginecomastia/epidemiologia , Ginecomastia/etiologia , Ginecomastia/genética , Humanos , Masculino , Neurofibromatoses/epidemiologia , Neurofibromatoses/genética
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