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Biomedical subjects

P Banin

Publications and source records attributed to P Banin.

6 recordsLinked to original sources

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. CONCLUSION: Our findings seem to confirm the theory that undiagnosed coeliac disease can induce an autoimmune process against the pancreatic beta cells and that, following a gluten-free diet, the immunological markers for diabetes mellitus type 1 will disappear.

Adolescent↗

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). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.

Child, Preschool↗

[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. In our work an example of new-born female with this syndrome is reported, and a review of 136 cases from the literature is presented.

Child, Preschool↗