A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction.

We report a 12-years-old Romanian boy with a diagnosis of diabetes and renal insufficiency. Mutations in homeodomain-containing transcription factor hepatocyte nuclear factor (HNF-1β) have been reported in association with maturity-onset diabetes of the young (MODY 5) and early maturity-onset diabetes, progressive non-diabetic renal dysfunction and bilateral renal cysts. We found a new heterozygous mutation in HFN-1β located in the exon 3 (c.

Type 1 diabetes (T1DM) in children and adolescents of immigrated families in Emilia-Romagna (Italy).

Background And Aim Of The Work: The etiology and natural history of T1DM are still unknown but certainly both genetics and environmental factors contribute to the development of the disease. Migration studies are an important tool to better understand the role of the environment. The aim of this study was to investigate some variables in diabetic children of immigrant families living in Emilia-Romagna compared with Italian diabetic children living in the same region.

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e.

The continuous glucose monitoring system (CGMS) in patients with beta-thalassemia major and impaired glucose homeostasis: preliminary results.

Impaired glucose tolerance (IGT) and diabetes mellitus (DM) are well known complications in ?-thalassemia major (TM). In recent years new technologies have become available for the management of these conditions, including the continuous glucose monitoring system (CGMS). We implanted CGMS in six TM patients with abnormal glucose homeostasis after an oral glucose tolerance test (OGTT).

Regression of autoimmunity and abnormal glucose homeostasis in an adolescent boy with silent coeliac disease.

Unlabelled: We report on a 15-y-old adolescent boy affected by silent coeliac disease, abnormalities in glycoregulation and with autoantibodies specific to diabetes mellitus type 1 (ICA: islet cell antibodies) and GAD 65 (autoantibodies against glutamic acid decarboxylase), in whom normalization of glycoregulation and disappearance of the immunological markers of pre-diabetes were observed after 6 mo on a gluten-free diet. The patient was followed-up for 36 mo and showed a normal insulin response to an intravenous glucose tolerance test and no markers of autoimmunity. It is possible that undiagnosed coeliac disease over a long period could lead to a direct autoimmune mechanism against pancreatic beta cells.

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21).

[Goltz syndrome].

Goltz syndrome or focal dermal hypoplasia is a hereditary disorder, is a rare mesodermal hypoplasia found primarily in females. It is characterized by linear hypoplasia of the skin and tumors of fat or lipomatous lesions. There are significant defects of the skeleton, dental structures, eyes, soft tissues and skin.