Search results for " Type 1"
showing 10 items of 430 documents
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
2014
Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neur…
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
2019
BACKGROUND: Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown.METHODS: To identify genetic variants predisposing to diabetic kidney disease, we performed genome-wide association study (GWAS) analyses. Through collaboration with the Diabetes Nephropathy Collaborative Research Initiative, we assembled a large collection of type 1 diabetes cohorts with harmonized diabetic kidney disease phenotypes. We used a spectrum of ten diabetic kidney disease definitions based on albuminuria and renal function.RESULTS: Our GWAS meta-analysis included association result…
Coping with everyday stress and links to medical and psychosocial adaptation in diabetic adolescents.
2003
Abstract Purpose To study coping with everyday stressors in a longitudinal sample of 98 adolescents with insulin-dependent mellitus (type 1) diabetes. Methods The adolescents with type 1 diabetes were classified into three homogeneous groups of metabolic control by latent class analysis, based on annual tests of hemoglobin A1 values. Questionnaires assessing frequent minor stressors as well as ways of coping with these stressors were given annually over the course of 4 years. Latent class analysis revealed three distinctive groups of metabolic control over time. Adolescents who exhibited continuously poor, satisfactory, and good metabolic control. Eighty percent of the adolescents stayed in…
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells
2005
AbstractCadherin 23 is required for normal development of the sensory hair bundle, and recent evidence suggests it is a component of the tip links, filamentous structures thought to gate the hair cells' mechano-electrical transducer channels. Antibodies against unique peptide epitopes were used to study the properties of cadherin 23 and its spatio-temporal expression patterns in developing cochlear hair cells. In the rat, intra- and extracellular domain epitopes are readily detected in the developing hair bundle between E18 and P5, and become progressively restricted to the distal tip of the hair bundle. From P13 onwards, these epitopes are no longer detected in hair bundles, but immunoreac…
EVALUATION OF STABILITY AND ENZYMATIC ACTIVITIES OF PROTEOLYTIC ENZYMES USED IN PANCREATIC ISLET TRANSPLANTATION
2009
In pancreatic islets purification, for cell therapy applications, the major enzymes used are obtained from Clostridium hystoliticum; class I and class II collagenases (Coll-G and Coll-H). In a well defined composition Coll-G/Coll-H together enzymes working on hydrophobic amminoacid, the neutral protease (Dispase) or the thermolysin (Thermostable Neutral Protease), are used in Langerhans islets purification. By electrophoresis and gelatin zymography approaches, in combination to densitometry quantitative valuation we have compared in composition, stability and autodigestion processes C. hystoliticum collagenases, Neutral protease and Thermolysin from two different producers, Roche and Serva.…
Obesity and nonalcoholic fatty liver disease in type 1 diabetes mellitus patients
2022
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Factors Affecting Mobile Diabetes Monitoring Adoption Among Physicians: Questionnaire Study and Path Model
2012
BackgroundPatients with type 1 and type 2 diabetes often find it difficult to control their blood glucose level on a daily basis because of distance or physical incapacity. With the increase in Internet-enabled smartphone use, this problem can be resolved by adopting a mobile diabetes monitoring system. Most existing studies have focused on patients’ usability perceptions, whereas little attention has been paid to physicians’ intentions to adopt this technology. ObjectiveThe aim of the study was to evaluate the perceptions and user acceptance of mobile diabetes monitoring among Japanese physicians. MethodsA questionnaire survey of physicians was conducted in Japan. The structured questionna…
Gene therapy for type 1 diabetes: is it ready for the clinic?
1999
This review, in addition to updating the growing list of type 1 diabetes- relevant gene therapies, offers an outline of short-term objectives that can readily be met to move, at least, adenoviral and adeno-associated viral-based protocols into the clinic, first as a means of facilitating islet allografts as well as platforms with which to introduce immunoregulatory transgenes. A wide array of genes have been tested to restore insulin production, to drive the differentiation of insulin-producing progenitors, and to confer immunosuppression in an antigen- and tissue-restricted manner.
Regulatory T cells--the renaissance of the suppressor T cells.
2007
Immune reactions are stringently regulated and balanced by complex interactions of stimulating and suppressing mechanisms. Dysfunctions of this sophisticated immune regulatory network can lead to a variety of diseases such as autoimmunity, allergy, cancer, and pregnancy disorders. The rediscovery of suppressor T cells a decade ago--now designated as T regulatory cells--set off a huge avalanche of research activities leading to a multitude of preclinical and clinical studies. Herein, we give a comprehensive review about this research on T regulatory cells and the relevance of this suppressive T cell population for the development of innovative immune therapeutic strategies.
An antihypertensive lactoferrin hydrolysate inhibits angiotensin I-converting enzyme, modifies expression of hypertension-related genes and enhances …
2015
This study was aimed to explore whether an antihypertensive lactoferrin hydrolysate (LFH) can inhibit angiotensin I-converting enzyme (ACE) activity and modify the expression of genes related to hypertension in human umbilical vein endothelial cells (HUVEC). LFH induced significant inhibition of ACE activity but it did not affect ACE mRNA levels after 24 h of exposure. LFH treatment significantly affected the expression of genes encoding for proteins involved in nitric oxide pathway such as soluble guanylate cyclase 1 α3 subunit (GUCY1A3; 4.42-fold increase) and nitric oxide synthase trafficking (NOSTRIN; 2.45-fold decrease). Furthermore, expression of the PTGS2/COX-2 gene encoding prostagl…