المؤلفون: Berot, Aurélie, Gitton, Anne, Diallo, Alpha Mamadou, Rahim, Assia, Lukas, Céline, Souchon, Pierre François, Salmon, Anne Sophie, François, Maud, Ly, Sang, Vitellius, Géraldine, Decoudier, Bénédicte, Sulmont, Véronique, Delemer, Brigitte, Barraud, Sara

المصدر: Diabetes & Metabolism; Sep2022, Vol. 48 Issue 5, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: TYPE 1 diabetes, DIABETES in children, UNIVERSITY hospitals, SYMPTOMS

مصطلحات جغرافية: FRANCE

مستخلص: French health insurance data showed that the incidence of type 1 diabetes mellitus (T1DM) in children increased over the years to 2015. The objective of our study was to assess the evolution of the number of incident cases of paediatric and adult type 1 diabetes in our institution, and to describe their clinical presentation and its evolution. All patients with T1DM managed at diagnosis at Reims University Hospital between 1997 and 2019 were included. The clinical and biological data were extracted from the Champagne-Ardenne Diabetes Network database. Included were 847 patients with a median age of 10.3 years. Diagnosis was established in 71% of cases before 15 years, 7.4% after 35 years. The number of newly diagnosed cases was 3.6-times higher in 2019 compared to 1997. Ketoacidosis, the frequency of which decreased with age (P < 0.0001), revealed diabetes in a total of 32% of cases and in 46% of children under 5 years. It was more severe in children than in adults (P = 0.03), and its frequency increased over the study period. Hypotrophy was found in 23% of children under 15 years of age, and was more pronounced before 5 years of age, with no improvement over time. We saw an increase in the frequency of obesity or overweight among adults. Our study showed an increase in incident cases of diabetes in our hospital that continued over time for both children and adults. Clinical features at diagnosis deteriorated during this period for those under 15 years of age with an increase in ketoacidosis frequency. [ABSTRACT FROM AUTHOR]

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المؤلفون: A Bashamboo, Ken McElreavey

المصدر: Annales d'Endocrinologie; Vol 71

مصطلحات موضوعية: Steroidogenic factor 1, Adult, Male, endocrine system, medicine.medical_specialty, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Ovary, Gene mutation, Biology, medicine.disease_cause, Steroidogenic Factor 1, 03 medical and health sciences, Mice, 0302 clinical medicine, Endocrinology, Internal medicine, Adrenal Glands, medicine, Adrenal insufficiency, Animals, Humans, Disorders of sex development, Ovarian Diseases, Child, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, Mutation, 030219 obstetrics & reproductive medicine, General Medicine, medicine.disease, Pedigree, medicine.anatomical_structure, Gene Expression Regulation, Female, Gonadotropin

الوصف: Primary ovarian insufficiency (POI) is defined as cessation of menstruation with associated elevation of gonadotropin levels as a result of decreased ovarian function before the age of 40. The incidence of POI is 1% in women prior to age 40, and 0.1% prior to age 30. There is evidence of a strong genetic component associated with POI. However, the gene mutations/variations influencing POI still remain uncharacterized. NR5A1, a member of the nuclear receptor superfamily, is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal steroidogenic axis. Newborn mice deficient in NR5A1 lack both gonads and adrenal glands and have impaired expression of pituitary gonadotrophins. NR5A1 is also expressed in multiple cell types in the fetal, postnatal, prepubertal and mature ovary. Until 2008, 18 NR5A1 mutations were described in the human. Three of these were identified in individuals with adrenal insufficiency, two associated with 46,XY disorders of sex development (DSD) and the third a 46,XX female with conserved ovarian function. Other mutations were associated with various anomalies of testis development with no evidence of adrenal failure. We have identified further 19 mutations in NR5A1 including mutations in four familial cases having individuals with 46,XY DSD as well as POI. A further analysis of 25 sporadic cases of POI revealed two additional mutations. Functional analysis revealed that each mutant protein had altered transactivational properties on gonadal promoters. These data reveal novels insights into the role of NR5A1 in ovarian developmental and function and indicate that mutations of the NR5A1 gene may be a significant cause of human ovarian insufficiency.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6fbd8e7bfd7df5fcf7b1e40503aae46Test

المؤلفون: Selvais, P. L., Hermans, Michel, Amoussou-Guenou, K. D.

المساهمون: UCL - Cliniques universitaires Saint-Luc, UCL - MD/MINT - Département de médecine interne

المصدر: Diabetes & Metabolism, Vol. 34, no. 3, p. 279-82 (2008)

مصطلحات موضوعية: Self-Help Groups, Power (Psychology), Middle Aged, Male, Life Style, Humans, Female, Diabetes Mellitus, Type 2, Type 1, Blood Glucose, Awareness, Adult, Patients' association, Self-empowerment, Education

الوصف: Aim. - Diabetes mellitus (DM) management requires the patient's involvement, but it is unknown whether belonging to a patient's association leads to better metabolic control. Methods. - A total of 323 type 1 (T1) and 494 type 2 (T2) outpatient diabetics were analyzed according to whether or not they were members of it diabetes patients' association. Results. -T1 members (M: N=138) were older and had longer diabetes durations than non-members (nM; N= 185). Both groups had similar BP, kidney function, lipid profile. BMI and socioeducational status. HbA(1c) (means +/- SD) were lower in M than in nM: 8.1 +/- 1.2% versus 8.4 +/- 1.4%, respectively; P<0.04. T1 M practised more frequent self-monitoring of blood glucose (SMBG). T2 M (N=97) were also older and had longer diabetes durations than nM (N=397), and both groups had similar BP, kidney function, BMI and socioeducational status. Although M had lower HOMA beta-cell function (50.6 +/- 31.5% versus 63.5 +/- 44.3% P<0.01), they had a similar HbA(1c) and a better lipid profile. T2 M practised more frequent SMBG and were more likely to use insulin. Oral antidiabetic, anti hypertensive and dyslipidaemic drug use was also similar, except fora higher use of calcium-channel blockers in T2 M. Conclusion. - Belonging to a patients' organization was associated with better HbA(1c) in T1DM. In T2DM, which progresses relentlessly, similar HbA(1c) levels and better lipid profiles were observed, despite longer known disease durations and lower beta-cell function. These were not explained by gender. clinical. renal. therapeutic or educational parameters, but might reflect more responsibility, empowerment and/or compliance in terms of the condition or its management. (C) 2008 Published by Elsevier Masson SAS.

العلاقة: boreal:35906; http://hdl.handle.net/2078Test.1/35906; info:pmid/18436464; urn:ISSN:1262-3636

الإتاحة: https://doi.org/10.1016/j.diabet.2008.01.006Test
http://hdl.handle.net/2078Test.1/35906