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

Transient neonatal diabetes mellitus (TNDM) is a rare condition which presents with intrauterine growth retardation, dehydration, and failure to thrive. The condition spontaneously resolves before 1 year of age but predisposes patients to type 2 diabetes later in life. We have previously shown that, in some cases, TNDM is associated with paternal uniparental disomy (UPD) of chromosome 6 and suggested that an imprinted gene responsible for TNDM lies within a region of chromosome 6q. By analysing three families, two with duplications (family A and patient C) and one with several affected subjects with normal karyotypes (family B), we have further defined the TNDM critical region. In patient A, polymorphic microsatellite repeat analysis identified a duplicated region of chromosome 6, flanked by markers D6S472 and D6S311. This region was identified on the Sanger Centre's chromosome 6 radiation hybrid map (http://www.sanger.ac.uk/HGP/Chr6) and spanned approximately 60 cR3000. Using markers within the region, 418 unique P1 derived artificial chromosomes (PACs) have been isolated and used to localise the distal breakpoints of the two duplications. Linkage analysis of the familial case with a normal karyotype identified a recombination within the critical region. This recombination has been identified on the radiation hybrid map and defines the proximal end of the region of interest. We therefore propose that an imprinted gene for TNDM lies within an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q24.1-q24.3 between markers D6S1699 and D6S1010.
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PMID:Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. 1020 43

Permanent neonatal diabetes mellitus (PNIDDM) is a rare form of IDDM with unclear etiology and pathogenesis. We determined the incidence and prevalence rates and studied the clinical and biochemical features of PNIDDM in the Sultanate of Oman. The mean incidence rate during the study period from January 1989 to December 1994 was 1.788 +/- 0.82 per 100,000 live births per year. At the end of December 1994 the prevalence rate was 2.4 per 100,000 children below the age of 5 years. They constituted 41.6% of all cases of IDDM in this age group. Diarrhoea, fever, lethargy, poor feeding and failure to thrive were the most common presenting symptoms. Dehydration and tachypnoea were the most common signs. All patients who developed IDDM during the neonatal period had intrauterine growth retardation and 4.5 presented with diabetic ketoacidosis (plasma glucose 37 +/- 9 mmol/L, pH 7.12 +/- 0.1). Hypertriglyceridemia was a constant feature (19.4 +/- 4.8 mmol/L). They were products of consanguineous marriage with significantly high prevalence of IDDM and NIDDM in their family members. None of the infants had clinical or immunological evidence of congenital viral infection. Three of the five children had HLA-DR2, the diabetes resistance alleles. C-peptide secretion was absent during and after metabolic control of hyperglycemia in all the studied infants and none had circulating islet cell antibody at presentation or during the first year after diagnosis. Despite marked growth retardation at birth, there was a significant improvement of growth after initiating insulin therapy. Four of the 5 patients had normal developmental milestones, one had mild developmental delay following a severe and prolonged attack of hypoglycemia. None of the patients had exocrine pancreatic deficiency. In summary, the very high rate of parental consanguinity, occurrence in both sexes and in two siblings in the same family, absence of islet cell antibodies and the presence of HLA-DR2 loci in 3/5 of patients suggest that PNIDDM is a different disease process to standard IDDM in childhood and an autosomal recessive mode of transmission.
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PMID:Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. 1079 84

Pediatricians are in a unique place in society by being able not only to care for the health and well-being of mothers and which, are their clinical responsibility, but also by being able to act as advocates for those patients who are often among the most vulnerable of our population. This article illustrates some of these points by referring to Australian Aboriginals from the vast desert areas of Westerns Australia. In remote areas of Western Australia, Aboriginal infants have high rates of low birth weight, failure to thrive and undernutrition. They also have high rates of respiratory, gastrointestinal and other infections. Aboriginal infant mortality has improved significantly over recent years, but Aboriginal health and mortality rates are still much worse than those of non-Aboriginal children and tend to be worst in more remote parts of the state. Overall, Aboriginal infants less than one year in age were hospitalized 9.5 times more frequently than non-Aboriginal infants for respiratory diseases (such as pneumonia, acute bronchiolitis and asthma); diarrheal diseases and skin infections were other very important causes of hospitalization for Aboriginal infants. Another poorly understood aspect of Aboriginal health is their widespread proneness to urinary tract infections. This is very important now in Australian Aboriginals in whom end-stage renal failure is becoming very prevalent. Rapid social and lifesyle changes have been very important in the poor health status of Aboriginals. They are also subject to severe socio-economic discrimination, underemployment, limited education, overcrowding, social depression and severely depressed housing conditions, relative inaccessibility to adequate and nutritious foodstuffs, and limited access to clinical services. Aboriginal people are prone to obesity, hypertension, type-2 diabetes mellitus and cardiovascular diseases. Overuse of alcohol and tobacco smoking have also become important challenges, particularly among adolescents and young adults. For the past twenty years or so, special programs have been developed to help overcome some of these problems; these include immunization programs, an extensive child health care program, special childhood screening programs, and oral rehydration therapy to reduce the high rates of mortality and morbidity associated with diarrheal diseases. These improvements have been achieved despite a set of socio-economic circumstances that face Aboriginal infants and children who live with adverse social factors. This was termed "Down and Out in 1996" in an editorial in The New Scientist (27 January 1996). A strategy that Australian Aboriginals are using now is to increase their own role through Aboriginal-controlled health and medical services including child health programs.
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PMID:A pediatrician and his mothers and infants. 1086 86

Transient neonatal diabetes mellitus (TNDM) is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. This disease is associated with paternal uniparental disomy or paternal duplication of chromosome 6, suggesting that the causative gene(s) for TNDM is imprinted. Recently, Gardner et al. (1999, J. Med. Genet. 36: 192-196) proposed that a candidate gene for TNDM lies within chromosome 6q24.1-q24.3. To find human imprinted genes, we performed a database search for EST sequences that mapped to this region, followed by RT-PCR analysis using monochromosomal hybrid cells with a human chromosome 6 of defined parental origin. Here we report the identification of a novel imprinted gene, HYMAI. This gene exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island and is expressed only from the paternal chromosome. A previously characterized imprinted gene, ZAC/LOT1, is located 70 kb downstream of HYMAI and is also expressed only from the paternal allele. In the pancreas, both genes are moderately expressed. HYMAI and ZAC/LOT1 are therefore candidate genes involved in TNDM. Furthermore, the human chromosome 6q24 region is syntenic to mouse chromosome 10 and represents a novel imprinted domain.
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PMID:A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. 1093 46

The health status of Australia's indigenous people remains the worst of any subgroup within the population, and there is little evidence of any significant improvement over the past two decades, a situation unprecedented on a world scale. Compared with non-indigenous Australians, adult life expectancy is reduced by 15-20 years, with twice the rates of mortality from heart disease, 17 times the death rate from diabetes and 10 times the deaths from pneumonia. Despite improvements in perinatal mortality, they continue to represent a major cause of death, with infant deaths up to 2.5 times higher than the general population. The problems of educational disadvantage and unemployment are reflected in twice the rates of smoking and high obesity levels. Seven percent of indigenous families are homeless, with many more in inadequate and overcrowded housing, sometimes lacking water or sewerage. Economic disadvantage is real: 23% worry about going without food. Nutritional deficiencies in children have resulted in failure to thrive, contributing greatly to the problems of pneumonia and infectious diseases. The remoteness and isolation of many Aboriginal communities limit education and employment opportunities. It is important to consider the historical context of Aboriginal and Torres Strait Islander people, in order to gain an understanding of current health problems. The impact of past policies and practices and the 'introduced diet' are reflected in the poor health outcomes described above. This session will explore some of the underlying historical, cultural, structural and political factors that can be linked to the current problems.
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PMID:Acculturation: Aboriginal and Torres Strait Islander nutrition. 1249 50

Diabetes mellitus and cystic fibrosis (CF) have been reported before in the literature, but they have never been reported in the same patient in the Middle East. We present the first reported case of insulin dependent diabetes mellitus (IDDM) and CF in 2 siblings of the same family. Both siblings were diagnosed early in life with IDDM, and their diabetes was well controlled on insulin. Cystic fibrosis was diagnosed in the first case one year after IDDM was diagnosed due to history of chronic cough and in the 2nd case by family screening. Both had severe failure to thrive, recurrent chest infections and gastro-esophageal reflux. With treatment both showed clinical improvement, but continued to have moderate lung disease radiologically and by pulmonary function test.
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PMID:Diabetes mellitus and cystic fibrosis in 2 Saudi siblings. 1251 10

The application of isotope tracers for investigating metabolism in mice is discussed. To familiarize the reader, some basic principles regarding the use of tracer methods are outlined. Emphasis is placed on showing how investigators are using isotope tracers to study the regulation of carbohydrate, fat and/or protein turnover in vivo. Finally, some of the advantages of using labeled water (i.e., 2H(2)O and/or H(2)18O) to trace the kinetics of biological processes are considered. The background provided in this report should assist engineers in designing studies that enhance our understanding of conditions in which metabolism is altered (e.g., diabetes, cancer cachexia, failure to thrive and travel at zero-gravity).
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PMID:Using isotope tracers to study metabolism: application in mouse models. 1473 53

This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.
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PMID:Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. 1510 97

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive. Endocrinological examination by insulin-induced hypoglycemia showed not only the presence of GH deficiency, but also the loss of the glucagon secretion response to hypoglycemia. This complication suggests abnormal input of autonomic nerves to the islets of pancreas in Johanson-Blizzard syndrome.
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PMID:Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. 1537 29

Gastric bypass surgery for morbid obesity is considered an appropriate intervention when other weight-loss measures have proven unsuccessful. Weight loss often brings about improvement in overall health by lessening the effects of obesity-related comorbidities such as chronic hypertension and diabetes. In fact, the ability to become pregnant is enhanced, as weight loss often allows for a normalization of sex hormones. However, the nutrition challenges brought about by the surgery may have a profound impact on maternal health and pregnancy outcome. Surgical procedures for morbid obesity may be classified according to the digestive aftereffects brought about by the particular procedure. These categories include the "restrictive" procedures, "restrictive-malabsorptive" procedures, and the less common "malabsorptive" procedures. Deficiencies in iron, vitamin B12, folate, and calcium can result in maternal complications, such as severe anemia, and in fetal complications, such as neural tube defect, intrauterine growth restriction, and failure to thrive. Nutrient supplementation following bariatric surgery and close supervision before, during, and after pregnancy can help prevent nutrition-related complications and improve maternal and fetal health.
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PMID:Pregnancy following bariatric surgery. 1564 4


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