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PubMedDate not supplied

Maturity-onset diabetes of the young: an illustrative case for control of diabetes and hormonal normalization with dietary management.

The efficacy of diet therapy used for one patient with the newly classified maturity-onset diabetes of the young (MODY) is reported. Using the conventional American Diabetes Association's food exchange system with appropriate caloric restriction, the patient's weight was reduced from 25% to 6% above ideal body weight in the 14-wk study. Results of three meal tolerance tests compared with a group of lean, normal subjects revealed a steady improvement from baseline and postprandial hyperglycemia, with concomitant normalization of the counterregulatory hormones as well as hemoglobin A1, free fatty acids, and subsequent euglycemia. This case demonstrates the effectiveness of dietary manipulation as the major therapy in MODY with obesity.

Adult↗
PubMedDate not supplied

'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing.

Hepatocyte nuclear factor-1alpha (HNF-1alpha) maturity onset diabetes of the young (MODY) is the commonest cause of monogenic diabetes but is frequently misdiagnosed as type 1 diabetes. The availability of genetic testing in MODY has improved diagnosis. Sulphonylurea sensitivity in HNF-1alpha patients means that those on insulin from diagnosis can transfer to sulphonylureas and may improve glycaemic control. To gain insight into the implications for patients of stopping insulin, in-depth interviews were conducted with eight HNF-1alpha patients transferred to sulphonylureas after a median of 20 years on insulin. Thematic content analysis highlighted four key themes: Fear, anxiety and excitement regarding stopping insulin, particularly among those who had been on insulin for many years or had never omitted insulin in the past. Improved lifestyle and self image accompanied by feelings of relief and 'increased normality'. Reflections on their time on insulin, including feelings of annoyance, particularly when the need for insulin treatment had been questioned at diagnosis. Difficulty 'letting go' of insulin treatment--some patients found it hard to believe that they no longer required injections as this conflicted with messages previously received from healthcare professionals. Transferring from insulin to sulphonylureas had a positive impact on lifestyle but support was needed for patients to adjust, many having grown up with the belief they would be on insulin for life.

Adolescent↗
PubMedDate not supplied

Molecular genetics goes to the diabetes clinic.

Diabetes has historically been thought of as a medical specialty which primarily deals with treatment rather than diagnosis. Molecular genetic testing can now be used to make a diagnosis of the 1-2% of all diabetic patients with monogenic diabetes. Making a diagnosis of monogenic diabetes is important as it can have a dramatic effect on the treatment a patient should receive: glucokinase MODY patients need no treatment; HNF1alpha MODY patients are very sensitive to low dose sulphonylureas; and patients with neonatal diabetes due to Kir6.2 mutations, despite being insulin dependent, can discontinue insulin and be well controlled on high dose sulphonylurea tablets. The challenge for diabetologists is to use clinical skills to detect these monogenic patients whose care will be greatly helped by the treatment changes that follow molecular genetic testing.

Adolescent↗
PubMed1999

[What have we learned thanks to genetics in type II diabetes and its complications?].

Genetic and environmental factors contribute to the development of type 2 diabetes. However, type 2 diabetes appears to be an heterogeneous syndrome composed of sub-types strongly associated with environmental factors at one end of the spectrum, and highly genetic forms at the other end. Therefore, a first approach has been to differentiate the potential monogenic forms of diabetes, as a paradigm for genetic studies, such as maturity onset diabetes of the young (MODY) which is characterized by an early age of onset and autosomal dominant inheritance. Recent studies have shown mutations in four transcription factors, members of the hepatocyte nuclear factor family. Furthermore, some data suggest that non-MODY monofactorial forms of late-onset NIDDM, due to islet transcription factors defects exist. The positional cloning of type 2 diabetes susceptibility genes is in progress, and will help to understand the molecular basis of diabetes, first step to identify targets of new drugs that will provide a better care to diabetic patients.

Adolescent↗
PubMed1999

Type 1 diabetes in Thai children aged 0-14 years.

Fifty-nine patients were diagnosed with diabetes in the ten years from 1987 to 1996 in the Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand. All patients were less than fifteen years old. Fifty-five patients (93.3%) were type 1 diabetes, three (5%) were type 2 diabetes and MODY, and one (1.7%) was diabetes secondary to beta thalassemia major. Patients with type 2 diabetes, MODY, and secondary diabetes were excluded from this study, and fifty-five patients with type 1 diabetes were analysed. The aims of this study were to determine some of the general characteristics of Thai childhood type 1 diabetes and to see whether a seasonal variation is present. The results showed a female to male ratio of 1.39:1. The peak age at diagnosis was from 9 to 12 years. Seventy-seven per cent had diabetic ketoacidosis at the time of diagnosis. The majority of patients (93.9%) had a BMI of less than 20 kg/m2. A family history of diabetes was reported in 38 per cent but only 2 per cent were type 1 diabetes. We found a high prevalence of patients in the summer and winter seasons (35-48% and 37-50% respectively) and a lower prevalence in the rainy season (14.8-15%). These results are different from a previously reported study in 1984-1985 which found no differences in summer, winter, and rainy seasons. Further research study into Thai childhood type 1 diabetes is needed, especially the influence of seasonal factors, the incidence of the disease, and the significance of family history.

Adolescent↗
PubMedDate not supplied

[Genetics of type 2 diabetes mellitus: genes implicated in early onset diabetes].

Non-insulin dependent type 2 diabetes (NIDDM) is a chronic and degenerative disease characterized by elevated glucose serum and the predisposition to the development of vascular complications. In Mexico the incidence of the disease reaches 8%, where one in every ten patients are diagnosed before age 40 (early-onset diabetes). NIDDM is a clinically and genetic heterogeneous entity. Mutations in the glucokinase gene and the genes for the transcription factors HNF-1 alpha, HNF-4 alpha, IPF-1, HNF-1 beta y HNF-3 beta have been demonstrated to cause MODY, a subtype of NIDDM characterized by autosomal dominate pattern of inheritance and an early-onset. Mutations in any of these genes result in deficient insulin synthesis and/or secretion. Five of these genes encode transcription factors that activate the transcription of various genes in pancreatic beta cell including, the insulin gene. Mutations in any of the genes associated to MODY may contribute to the insulin secretion deficiency frequently observed in early-onset type 2 diabetic patients. The structural and functional analysis of these genes, as well as other transcription factors expressed in pancreatic beta cell has allowed their recognition as putative candidate genes involved in the susceptibility to develop the disease.

Age Factors↗
PubMed2000

Diabetes mellitus in young Thai adults.

The purposes of the present study were to 1) find the prevalence of various types of diabetes; 2) determine the prevalence of glutamate decarboxylase autoantibody (anti-GAD) and 3) identify clinical characteristics which may help in predicting insulin deficiency in young Thai adults with diabetes. Subjects consisted of 93 adults with diabetes mellitus aged 15-40 years. In each subject, basal and post glucagon C-peptide levels were determined by radioimmunoassay. Anti-GAD was measured by radioimmunoassay and mitochondrial 3243 tRNA(Leu(UUR)) gene mutation was detected by PCR-RFLP. Data were expressed as mean +/- SEM. The mean age of subjects was 31.0 +/- 0.7 years with age at diagnosis of 25.6 +/- 0.9 years. Thirty nine (41.9%) were males and 54 (58.1%) were females. Pancreatic calcification was found in 7 (7.5%) of the patients while 2 (2.2%) were identified as having Wolfram syndrome. Four (4.3%) had nonketotic diabetes with affected family members in multiple generations consistent with MODY. Mitochondrial 3234 tRNA(Leu(UUR)) gene mutation was detected in only one patient. After excluding 14 subjects with pancreatic calcification, Wolfram's syndrome, MODY or mitochondrial gene mutation, 45 (57.0%) were found to be insulin-deficient and 34 (43.0%) were insulin-sufficient based on post-glucagon C-peptide levels. Using stepwise logistic regression analysis, it was found that younger age at diagnosis (p<0.001), smaller waist circumference (p<0.01), previous history of DKA (p<0.01) was significantly associated with insulin deficiency. After excluding patients with DKA, younger age at diagnosis of diabetes (p<0.05) and lower BMI (p<0.01) were related to insulin deficiency. Concerning the role of autoimmunity, it was found that 13 (28.3%) of insulin-deficient subjects were positive for anti-GAD while 4 (11.8%) of those who were insulin-sufficient had positive results. Of the 54 patients currently on insulin, 42 (77.8%) are insulin deficient and 14 (25.9%) have positive anti-GAD. There were 10 (18.5%) who were both insulin sufficient and negative for anti-GAD suggesting that insulin therapy may not be required. We concluded that about half of young Thai adults with diabetes are not insulin-deficient and treatment with insulin may be unnecessary. The prevalence of glutamate decarboxylase antibody and mitochondrial 3234 tRNA(Leu(UUR)) gene mutation is low and as yet undefined factors are accountable for insulin deficiency in a significant number of patients.

Adolescent↗
PubMed2001

[Non-insulin dependent diabetes mellitus during development in the population ].

This type of diabetes mellitus is generally considered rare in children and adolescents. The incidence of type 2 diabetes has increased dramatically in the past decade in some ethnic groups. This increased incidence of youth-onset non-insulin dependent diabetes mellitus (NIDDM-Y) has corresponded temporally to an unprecedented increase in body weight and prevalence of obesity in youth in various ethnic populations. Maturity-onset diabetes of the young (MODY), another type of non-insulin-dependent diabetes mellitus, is characterized by an early onset and autosomal dominant inheritance. MODY blood glucose is primarily due to beta-cell defects resulting in inadequate insulin secretion for a given level. In contrast to NIDDM-Y there is no significant increase in insulin resistance.

Adolescent↗
PubMed2002

[High sensitivity to sulphonylurea treatment in 2 patients with maturity-onset diabetes of the young type 3].

In 2 patients, a 26-year-old woman and a 47-year-old man, diabetes mellitus was diagnosed during their teens, although they had (almost) no symptoms at the time. Since then, the disease was well controlled in both patients with the use of tolbutamide at a low dose. Diabetes occurred in at least 3 generations of both patients' families, inherited as an autosomal dominant trait. Genetic screening in both individuals revealed two separate mutations in the HNF-1 alpha gene, confirming maturity-onset diabetes of the young type 3 (MODY-3). MODY-3 patients are unusually sensitive to the hypoglycaemic effects of sulphonylureas. These agents remain effective in these patients for years, even at low doses.

Adult↗
PubMed2002

Different genes, different diabetes: lessons from maturity-onset diabetes of the young.

Maturity-onset diabetes of the young (MODY) is a genetic subgroup of diabetes characterised by an autosomal dominant inheritance and early onset, non-insulin dependent diabetes. This results from a monogenic defect causing beta-cell dysfunction. The defining of five genes in which mutations cause MODY has allowed us to understand the clinical heterogeneity seen in this condition and can guide clinical management. Mutations in the glucokinase gene lead to stable hyperglycaemia, complications are unusual and treatment is rarely needed. Glucokinase patients are often detected during screening in pregnancy. While maternal mutations increase birth weight by increasing maternal glycaemia, fetal mutations reduce birth weight by reducing fetal insulin secretion. Patients with mutation in genes encoding the transcription factors, hepatocyte nuclear factor (HNF)- 1alpha, HNF-4alpha, HNF-1beta and insulin promoter factor 1 (IPF-1) have a common progressive beta-cell failure resulting in increasing hyperglycaemia and treatment requirements. These patients are at risk of developing microvascular complications. They show a pharmacogenetic effect with a specific sensitivity to sulphonylureas. Patients with transcription factor mutations have a range of discrete extra-pancreatic phenotypes including a low renal threshold for glucose with HNF-1alpha mutations, altered lipids and lipoproteins with HNF-4alpha mutations and a variety of cystic renal diseases and uterine and genital developmental disorders with HNF-1beta mutations. Molecular genetic testing is now available in routine clinical practice. This allows confirmation of a diagnosis of MODYand defines the subgroup. Differences in prognosis and treatment strongly support the increased use of molecular genetic testing in diabetes.

Basic Helix-Loop-Helix Leucine Zipper Transcriptio↗
PubMed2004

[A minimum medical GIS database (MMDb) for Europe].

Geographic information systems (GIS) and remote sensing (RS) technologies are being used increasingly to study the spatial and temporal patterns of some parasitic diseases of medical and veterinary importance. At the same time, the incorporation of GIS in this field shows the scarcity of the data and images available, which sometime discourage researchers that still look at GIS as a system too difficult and unusable for medical study. Aware of this problem and supported by success of earlier MMDb's for Africa, Asia and South America, the authors' aim is to construct and offer an MMDb for Europe. The initial MMDb is composed with vector images covering an area situated from -11 degrees-70 degrees N to 58 degrees-30 degrees E. Specifically, data layers include: a) Global Moderate-Resolution Imaging Spectroradiometer (MODIS) Normalized Difference Vegetation Index (NDVI) 16 days at 250 m spatial resolution designed to provide consistent spatial and temporal comparisons of vegetation conditions, supplied in the MMDb as seasonal and annual composite images from 2000 to 2003, b) MODIS Land Surface Temperature (LST) calculated from daytime and nighttime observations at 8 day intervals at 1 km spatial resolution, supplied in the MMDb as seasonal and annual composites images for day (maximum) temperatures, night (minimum) temperatures from 2000 to 2003, c) GTOPO30 Digital Elevation Model (DEM) at 1 km spatial resolution, d) United States Geological Survey (USGS) Land use/land cover scheme, e) USGS actual and potential evapotranspiration supplied for all 12 months as a grid at 50 km spatial resolution, f) USGS precipitation showing the amount of rainfall for all 12 months supplied as a grid at 50 km spatial resolution, g) USGS shapefiles of administrative and political boundaries, cities, towns, villages, lakes, rivers, streams, road, railroads and more. The MMDb projection will be in geographic latitude-longitude, decimal degree format. This global format is most commonly used for public access map database resources and can be readily re-projected as needed for compatibility with various national mapping systems. There is no "required" software, and end users need only common commercial GIS software packages that have mutual import-export functions. Additionally, the MMDb is meant to be a dynamic resource that end users may improve and modify with other regional data.

Animals↗
PubMed2006

[Diabetes mellitus--differential diagnosis].

Differentiation of the various forms of diabetes is necessary for therapeutic reasons. Typical signs of type 2 diabetes are age over 40, obesity, and other markers for metabolic syndrome, a positive famitory, gradual development of the classical symptoms, and no evidence of ketosis. It is important to distinguish this from LADA (latent autoimmune diabetes of adulthood), a form of type 1 diabetes mellitus. To establish this differential diagnosis antibody testing is employed. Antibody tests in patients with newly manifest diabetes make good sense when the clinical diagnosis is not unequivocal, that is, to distinguish it from type 2 diabetes, MODY diabetes, hereditary and secondary forms. At present, immunodiagnosis is used too often in unambiguous cases of type 1 diabetes, but too rarely in supposed type 2 diabetes. As a rule, LADA patients are GADA-positive. If MODY diabetes is suspected, a genetic examination is indicated. In patients with GDM, antibody testing with GADA makes sense, in particular in slim patients receiving insulin treatment, since these patients have a high risk for developing a postpartum diabetes already in the first years.

Adolescent↗
PubMed2006

[Estimation models of rice LAI and chlorophyll content based on MOD09].

The MODIS (moderate-resolution imaging spectroradiometer) surface reflectance product MOD09, which was strictly corrected by NASA, can be widely applied to monitor the change of land vegetation. In this paper, a quasi and synchronous experiment of MODIS sensor was performed, and the rice leaf area index (LAI) and chlorophyll content (Chltot) were measured. The relationships between the vegetation indices (VIs) derived from MOD09 and the rice LAI and Chltot were analyzed, and the estimation models were established. The VIs values derived from MOD09 were higher than those in the first three bands of MOD09, and EVI value was lower than NDVI value. In comparing with other Vis, EVI had a better relationship with LAI at different rice growth stages. MOD09-EVI was selected to construct the estimation model of rice LAI, and validated by other in situ sampling plot data to be more precise, suggesting MOD09-EVI was the best index to monitor rice LAI. There was a significant correlation between MOD09-Red band and Chltot at early and medium rice growth stages. The estimation model of rice canopy Chltot based on MOD09-Red band was established and validated, and no models were significantly efficient, except the estimation model of Chltot at booting stage.

Chlorophyll↗
PubMed2006

[Monogenic forms of diabetes mellitus].

Through the years the evolution of the concepts in the different classifications of Diabetes Mellitus keep a close relationship with the advance of the scientific knowledge of this matter. In this way the last classification adopted in 1995 by the American Association of Diabetes and the World Health Organization has an etiologic basis, but in some aspects is already obsolete. With the new knowledges this classification should be modified including a group dedicated to monogenic diabetes. In this group should be considered diabetes MODY 1 to 6, constituted by the forms expressed by mutations of transcription factors and the glucokinase enzyme. There are other patients named MODY X, because the responsible genes of the diseases have not been identified yet. Also in this section might be included the mutations of the Kir6.2 subunit of the K+ channel recently described in the beta cell. It is possible that in a near future other forms will be described, which will contribute to a better understanding of the monogenic diabetes.

Adult↗
PubMed1979

Clinical and etiological heterogeneity of idiopathic diabetes mellitus. The banting memorial lecture.

We have presented and reviewed evidence for the heterogeneous nature of diabetes mellitus in terms of genetics, environmental factors, insulin responses to glucose and vascular disease. We have reviewed evidence for heterogeneity between juvenile-onset diabetes (JOD) and maturity-onset diabetes (MOD) and maturity-onset diabetes of young (MODY) and for heterogeneity within groups of JOD and MOD and MODY patients. Although much remains to be learned, a beginning has been made and suggests that primary diabetes mellitus is not a single specific disease but a syndrome comprised of a variety of diseases all characterized by hyperglycemia and tissue changes that result from heterogeneous etiologic and pathogenetic factors. Future classifications of primary diabetes mellitus will undoubtedly be lengthy, as are for other diseases and syndromes also caused by a variety of etiologic and pathogenetic mechanisms.

Adenoma, Islet Cell↗
PubMed1987

[Prospective analysis of the natural course of non-insulin dependent diabetes mellitus in early adulthood].

Non-insulin-dependent diabetics with early manifestation of the disease (NIDDM) who were registered by an epidemiological cross-sectional study 1979 in the Erfurt district were pursued prospectively and 47 of the 58 patients underwent a re-examination five years later. The changes of therapy performed (7 new administrations of insulin, 9 change from diet to normal food) as well as the metabolic development of the patients under epidemiological aspect prove the heterogeneity of NIDDM and the doubtfulness of hitherto existing MODY-criteria. The oGTT performed in 37 patients 9 times resulted in a full remission and in 4 cases in an IGT. Including the 10 insulinized patients 34 diabetics (72.3%) had remained manifest. In contrast to the initially different degree of post-load hyperglycaemia in patients with and without remission the behaviour of the insulin secretion did not show any significant differences in the course and between the groups of patients. Young non-insulin-dependent diabetics are mainly among a representative target population type-II-diabetics with early onset. In contrast to this type-I-diabetics with a long insulin-free initial phase go into the background. In our population real MODY-cases are apparently extraordinarily rare.

Adolescent↗
PubMed1986

The spectrum of non-insulin-dependent diabetes in the young in a migrant Indian population.

The familial aggregation and degree of adiposity of 108 Indian patients with non-insulin-dependent diabetes in the young was studied. All patients had onset of diabetes under 30 yr and the female to male ratio was 5:1. Obesity as defined was present in 52 patients (48.2%). A positive family history of diabetes was present in 90 patients (83.3%). Two distinct subtypes emerged in the patients with a positive family history; the offspring of conjugal diabetic parents (29%) and maturity onset diabetes of the young (MODY) with 3-generation transmission (13%). In conclusion, the syndrome of NIDDY in Indians comprises at least 3 subtypes: offspring of conjugal diabetic parents, MODY and patients without a family history (sporadic type).

Adolescent↗
PubMed1995

[The role of anti-tachycardia stimulation in patients with 3rd-generation defibrillators].

The most effective antitachycardia pacing mode (ATP) is still a matter of debate. Randomized prospective testing of 5 different ATP modes was performed in 82 patients (pts) prior to and after cardioverter defibrillator (ICD) implantation. The 5 ATP modes included 3-4 stimulation attempts with 4-10 adaptive scanning burst pulses. Adaptive burst coupling interval was 75% in mode A, 81% in mode B, 69% in mode C, 72% in mode D, and 88% in mode E. Auto-decremental scanning within bursts was 8 ms in modi A, B, and C, and 10 ms in modus E; autodecremental scanning between bursts was 8 ms in modi B and C, and 10 ms in modus D. During the pre-op electrophysiologic study (EP), termination (TR) of induced ventricular tachycardia (VT) was possible in 69% and by pre-discharge EP in 53%. Acceleration (AC) rates were 16% pre-op and 32% post-op (p = ns). There were no significant differences in TR or AC between modes A-E. During a mean follow-up of 18 +/- 4 (< 1-41) months, 3182 arrhythmia episodes (AE) occurred: 344 AE (11%) were terminated by primary ICD shocks and ATP was attempted in 2838 AE (89%) and was successful in 2576 AE (91%). AC occurred in 87 AE (3%) and ATP was without effect in 175 AE (6%). Our data show that ATP is helpful in patients with third-generation ICDs and is very effective during follow-up. However, there is no ideal ATP-mode visible in the present study.

Aged↗