Search results for " Type 1"
showing 10 items of 430 documents
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
2005
Contains fulltext : 48386.pdf (Publisher’s version ) (Closed access) Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A). Although the different USH types exhibit almost the same phenotype in human, the identified USH genes encode for proteins which belong to very different protein classes and families. We and others recently reported that the scaffold protein harmonin (USH1C-gene product) integrates all identified USH1 molecules in a USH1-protein network. Here, we investigated the relationship between the USH2 molecules a…
Techniques to evaluate erythrocyte deformability in diabetes mellitus
2005
Using several rheological techniques, we examined the erythrocyte deformability in different groups of diabetic subjects. The macrorheological techniques used for this evaluation were respectively whole-blood filtration, filtration of erythrocyte suspensions, polyviscosimetry and diffractometry. Whole-blood filterability, at a negative pressure of 20 cm water, was decreased in type 2 diabetics; no difference was evident at a negative pressure of 10 cm water. The filtration of erythrocyte suspensions at low haematocrit (5%) did not show differences between normal and diabetic subjects. The polyviscosimetry, which explores the filterability of erythrocyte suspensions at high haematocrit (80%)…
Neurofibromatosis of the nipple-areolar area : nine case reports
2010
Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas. Case presentation: A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex. Meanw…
Combined therapy with insulin and rGH in thirteen Italian patients with type 1 diabetes (T1DM) and growth disorders.
2012
Background: Combined GH and insulin therapy are rarely prescribed in pediatric pts because the association of GHD and T1DM is rare and maybe for the difficulties in managing a double therapy with opposite effects on glucose metabolism. Objective and hypotheses: To investigate on the attitude of pediatric endo-diabetologists in treating these pts. Methods: Data were collected from over 50 centres belonging to the ISPED. The inclusion criterion was based on the double therapy for at least 6 months with insulin due to T1DM, and rGH, due to growth impairment. Results: Most centres stated that the use of combined therapy was considered uncomfortable and frequently avoided, whereas 10 centres rep…
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotype…
2009
Abstract Background Agouti and Extension loci control the relative amount of eumelanin and pheomelanin production in melanocytes that, in turn, affects pigmentation of skin and hair. The Extension locus encodes the melanocortin 1 receptor (MC1R) whose permanent activation, caused by functional mutations, results in black coat colour, whereas other inactivating mutations cause red coat colour in different mammals. Results The whole coding region of the MC1R gene was sequenced in goats of six different breeds showing different coat colours (Girgentana, white cream with usually small red spots in the face; Maltese, white with black cheeks and ears; Derivata di Siria, solid red; Murciano-Granad…
Determination of anti GAD65 autoantibodies with an ELISA before and after standardization with the new international reference serum
2009
The serum of a stiff-man syndrome patient was declared international GAD reference standard at the "1st GAD Antibody Workshop" held at the "12th International Immunology and Diabetes Workshop" in Orlando, Florida, USA 1993. A comparative study was performed with 123 diabetic and non-diabetic patients to evaluate whether standardization of this reference serum had changed the properties of a commercially available ELISA assay. All samples classified positive with the old test were confirmed with the new assay. Four additional samples with high "normal" values became positive with the new test. One of them was a control person having a family history of diabetes and genetic loci DR4/DR11. The…
A hierarchical Bayesian birth cohort analysis from incomplete registry data: evaluating the trends in the age of onset of insulin-dependent diabetes …
2005
Childhood diabetes is one of the major non-communicable diseases in children under 15 years of age. It requires a life-long insulin treatment and may lead to serious complications. Along with the worldwide increase in the incidence several countries have recently reported a decreasing trend in the age of onset of the disease. The aim of this study is to analyse long-term data on the incidence of the childhood diabetes in Finland from the birth cohorts perspective. The annual incidence data were available for the period 1965--1996 which translates into 1951--1996 birth cohorts. Hence the data consist of completely and partially observed cohorts. Bayesian modelling was employed in the analysi…
Electroretinographic oscillatory potentials in insulin-dependent diabetes patients: A long-term follow-up.
2002
Purpose: The aim of this research was to study the relevance of long-term follow-up of electroretinographic oscillatory potentials (OPs) in predicting the onset of minimal non-proliferative diabetic retinopathy in insulin-dependent diabetes patients. Methods: A total of 80 insulin-dependent diabetics, with normal fundi and normal OPs at first examination, were followed prospectively for 10 years. Oscillatory potentials were measured and fundus examinations performed once or twice per year. Results: During follow-up, 35% of patients developed diabetic retinopathy after a mean disease duration of 12 ± 2 years. A decrease in OP amplitudes was seen in 46% of this group, but reductions were also…
CB(1) signaling in forebrain and sympathetic neurons is a key determinant of endocannabinoid actions on energy balance
2010
The endocannabinoid system (ECS) plays a critical role in obesity development. The pharmacological blockade of cannabinoid receptor type 1 (CB(1)) has been shown to reduce body weight and to alleviate obesity-related metabolic disorders. An unsolved question is at which anatomical level CB(1) modulates energy balance and the mechanisms involved in its action. Here, we demonstrate that CB(1) receptors expressed in forebrain and sympathetic neurons play a key role in the pathophysiological development of diet-induced obesity. Conditional mutant mice lacking CB(1) expression in neurons known to control energy balance, but not in nonneuronal peripheral organs, displayed a lean phenotype and res…
Clinical profiles and quality of care of adults with type 1 diabetes according to their cardiovascular Risk: A Multicenter, Observational, retrospect…
2021
Abstract Aims The European Society of Cardiology (ESC) recently defined cardiovascular risk classes for subjects with diabetes. Aim of this study was to explore the distribution of subjects with type 1 diabetes (T1D) by cardiovascular risk groups according to the ESC classification and to describe the quality indicators of care. Methods The study is based on data extracted from electronic medical records of patients treated at the 258 Italian diabetes centers participating in the AMD (Associazione Medici Diabetologi) Annals initiative. Patients with T1D were stratified by cardiovascular risk. Measures of intermediate outcomes, intensity/appropriateness of pharmacological treatment, and over…