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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Canine diabetes mellitus (DM) shares many similarities with human type 1 diabetes (T1D). It is a complex genetic disorder, which shows marked differences in breed susceptibility, with Samoyed dogs being highly susceptible, whereas the Boxer breed is relatively resistant. A number of immune response genes, which have been associated with human T1D, have also been implicated in determining susceptibility to canine DM, suggesting an immune-mediated component to the disease pathogenesis. Single nucleotide polymorphisms (SNPs) in the CTLA4 gene have consistently and reproducibly been associated with human T1D and other autoimmune diseases but the canine CTLA4 gene has not previously been investigated for involvement in canine DM. SNPs of particular interest in the human association studies are those in the promoter region which affect CTLA4 expression levels, and that of exon 1 which results in a non-synonymous amino acid change. We performed a canine SNP discovery investigation of CTLA4 on a region of DNA containing exon 1 and 1.5 kb upstream sequence in order to identify promoter region SNPs. Confirmed SNPs were used in a genetic association study of a canine diabetic cohort showing that CTLA4 promoter polymorphisms were associated with diabetes in crossbreed dogs and in five Pedigree breeds-Samoyed, Miniature Schnauzer, West Highland White Terrier, Border Terrier and Labrador. Meta-analysis of these breeds showed 9 out of 15 SNPs were associated with DM and genotype and haplotype analyses also confirmed the allelic associations in these breeds.
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PMID:CTLA4 promoter polymorphisms are associated with canine diabetes mellitus. 2019 32

Genetics is an important contributory factor in many medical conditions. Having an understanding of the genetic basis of diseases can therefore be helpful in identifying and supporting people who have, or are at risk of having, a genetic condition. Most of the current practical applications relate to conditions which are known to have a definite mode of inheritance (for instance cystic fibrosis or familial hypercholesterolaemia) or which are due to chromosomal anomalies (such as Down syndrome). Current research projects are attempting to identify and understand the genetic factors associated with common diseases (such as diabetes and Crohn's disease) but it will be some time before these are likely to be useful clinically. Key skills in the delivery of a holistic family practice service include being able to collect a genetic family history, identifying people at risk and knowing how to refer to specialist services.
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PMID:Genetics: what's it got to do with family health care? 2051 69

Cystic fibrosis (CF) is a fatal genetic disorder that affects many organ systems in the body. Historically, few patients with CF lived beyond early childhood, but with continuous improvement in treatment modalities, quality of life and the life span of persons with CF has greatly improved. As the surviving population of people with CF increases, a greater chance of encountering them in anesthesia practice exists. Comorbidities associated with the disease, such as diabetes mellitus and osteopenia, may also contribute to an increased frequency of surgical and anesthetic encounters. An understanding of the pathophysiology of the disease, as well as anesthetic implications and management, is crucial to the safe administration of anesthesia in this population. Cystic fibrosis is traditionally thought of as a childhood disease affecting the lungs and pancreas, which does not accurately describe the disease in its entirety. Many organ systems are affected, from the heart and lungs to the reproductive system, and may warrant alterations in an anesthetic plan. This review highlights the pathologic conditions associated with multiple systems, therapy regimens, and potential complications and suggests anesthetic implications.
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PMID:Cystic fibrosis: a systems review. 2057 12

Genomic imprinting refers to a class of transmissible genetic effects in which the expression of the phenotype in the offspring depends on the parental origin of the transmitted allele. The DNA from one parent may be epigenetically modified so that only a single allele of the imprinted gene is expressed in the offspring. Although imprinting has an important role in the regulation of growth and development through its role in regulating gene expression, its contribution to susceptibility to common complex disorders is not well understood. We summarize current views on the role of imprinting in diabetes and in particular chromosome 6q24-related transient neonatal diabetes mellitus, the best known example of an imprinted genetic disorder that leads to diabetes.
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PMID:Genomic imprinting in diabetes. 2072 35

Endometrial Cancer is the most frequent tumor in western world nations, with 142,000 new cases each year and 42,000 casualties. This form of cancer typically affects women between 55 and 65 years of age, and ranks fourth among female tumors. Endogenous predisposing conditions to endometrial cancer development are: late menopause, early menarche and hyperestrogenism, while hormone replacement therapy, obesity, alcohol, diabetes, and a diet rich in animal fats as well as chronic liver disease, are the exogenous factors. This tumor may also have an hereditary predisposition, as in the Lynch Syndrome or in HNPCC (Hereditary NonPolyposis Colorectal Cancer), since genetic modifications induced by the "MisMatch Repair" genes lead to a tumoral development susceptibility, not only in the colon. The phenotypical consequences of these genetic modifications may be found in the microsatellite instability (MSI) and in the loss of heterozygosity (LOH), which generate the replication errors in positive phenotypes repeats. These express the incapability to repair short nucleotide insertions or deletions, generated by a wrong DNA replication. Due to such genetic modifications, new allelic variants arise in the endometrial tissue, confirming the high degree of this genetic disorder. Recent studies showed that the MSI and LOH in endometrial cells may be associated with the possible loss in the expression of cellular control and with the possible degeneration of the cell growth phenomenon. There is also a possibility of utilizing these new genetic markers in the endometrial mucosa to study these tissues and to detect any possible neoplastic transformations, thanks to Genomics.
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PMID:Microsatellite instability (MSI) as genomic markers in endometrial cancer: toward scientific evidences. 2093 28

The purpose of this article is to describe diabetes diagnosed during the first 6 months of life. Neonatal diabetes, also known as congenital diabetes, presents a unique set of challenges for the pediatric healthcare provider. Neonatal diabetes is not type 1 diabetes. While the etiology of type 1 diabetes is multifactorial and includes genetic and environmental factors, neonatal diabetes is strictly a genetic condition. Management of children with neonatal diabetes, treatment of the disease, psychosocial considerations for the family, and nursing care required for this population are all included in this article. Unique issues related to the diagnosis of a genetic mutation resulting in a defect in the potassium channel are also discussed.
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PMID:Neonatal diabetes: current trends in diagnosis and management. 2096 76

Continued advances in genetics and genomics research suggest that more and more people will be identified 'at risk' for common diseases such as cancer, heart disease or diabetes. A perspective for understanding how people adapt to and manage inherited risk, as well as identifying differences in individual response to DNA information would be useful in the planning and provision of genetics health services. This article adopts a 'chronic risk' perspective to explore living at risk of Huntington disease (HD), a fatal genetic disorder. Qualitative data analysis suggested two broad themes that illustrated living with chronic risk: (1) biographical disruption, including threats to self-identity and changes to relationships with others; and (2) zones of relevance, the conditions under which risk is or is not salient. Findings are relevant to the provision of genetics health services, particularly in follow-up support to individuals at risk for HD and their families.
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PMID:'I put it on the back burner most days': Living with chronic risk. 2117 15

Reabsorption of glucose in the proximal renal tubule involves the Na(+)-coupled glucose cotransporter (SGLT) and the facilitative glucose transport (GLUT) multigene glucose transport families. Mutations in SLC5A2, the SGLT2 coding gene, are responsible for familial renal glucosuria (FRG), a genetic disorder characterized by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction. In this paper we focus on FRG and describe other inherited and acquired clinical conditions associated with glucosuria. In addition, a brief review on the regulation of renal glucose transport in diabetes is provided.
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PMID:Effect of kidney disease on glucose handling (including genetic defects). 2135

Family history interviews are widely used in psychiatric research, as well as in genetic and twin studies, and provide a way to collect family history information quickly and economically. To obtain a valid assessment of family history, it is important to investigate which family member will be able to provide accurate information. Previous research shows that the validity of family history reporting can be influenced by characteristics of the informant, such as age, gender and personal history of psychiatric disorder. The aim of this study was to investigate the role of a subject's position in a pedigree on the validity of data collection. Family history data on diabetes and psychiatric disorders were collected in three generations of 33 families by interviewing both an index subject (3rd generation) and his or her mother (2nd generation). Mothers were shown to report higher rates of diabetes and psychiatric disorder in the family compared to the index subjects. There was no significant difference in the disease rate reported by male and female index subject. Mothers who experienced a depressive episode indicated significantly more family members as having a psychiatric disorder than mothers who never experienced such an episode. This could be explained by the presence of informant bias, but may also result from the fact that depression is a heritable disorder and is therefore actually more prevalent in these families. Our findings suggest that family interview data should be collected by interviewing subjects who have a central position in the pedigree and can therefore provide information on his/her own generation, the previous and the next. In addition, psychiatric status of the informant should be carefully addressed.
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PMID:The influence of informant characteristics on the reliability of family history interviews. 2162 50

Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children.
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PMID:[Wolfram syndrome: clinical and genetic analysis in two sisters]. 2163 51


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