The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

Context: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes with a matrilineal transmission, sensorineural hearing loss, and macular pattern dystrophy due to an A to G transition at position 3243 of mitochondrial DNA (mtDNA) (m.3243A>G). The phenotypic heterogeneity of MIDD may be the consequence of different levels of mutated mtDNA among mitochondria in a given tissue. Objective: The aim of the present study was thus to ascertain the correlation between the severity of the phenotype in patients with MIDD and the level of heteroplasmy in the blood leukocytes. Participants: The GEDIAM prospective multicenter register was initiated in 1995. Eighty-nine Europid patients from this register, with MIDD and the mtDNA 3243A>G mutation, were included. Patients with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) or with mitochondrial diabetes related to other mutations or to deletions of mtDNA were excluded. Results: A significant negative correlation was found between levels of heteroplasmy and age of the patients at the time of sampling for molecular analysis, age at the diagnosis of diabetes, and body mass index. After adjustment for age at sampling for molecular study and gender, the correlation between heteroplasmy levels and age at the diagnosis of diabetes was no more significant. The two other correlations remained significant. A significant positive correlation between levels of heteroplasmy and HbA1c was also found and remained significant after adjustment for age at molecular sampling and gender. Conclusions: These results support the hypothesis that heteroplasmy levels are at least one of the determinants of the severity of the phenotype in MIDD. Heteroplasmy levels are at least one of the determinants of the severity of the phenotype of maternally inherited diabetes and deafness

What do the needles, syringes, lancets and reagent strips of diabetic patients become in the absence of a common attitude? About 1070 questionnaires in diabetic clinics.

The aim was to investigate the fate of injection and monitoring material after its use by diabetic patients in different countries (France, Belgium, Luxemburg, Switzeland and Tunisia). Some suitable containers are available for disposal but little is known about the attitudes of patients and physicians to them. 1 070 questionnaires were completed by patients (age: 50 +/- 18 years; diabetes duration: 15 +/- 11 years; 2.8 +/- 1.1 injections per day) visiting 109 doctors. Injections were done at home (72.6%), or both at home and at work (26.6%). At home: needles, syringes, lancets and reagent strips were thrown directly into the bin in 46.9%, 49.9%, 52.2% and 67.6% of cases, respectively; and in a closed plastic bottle in 29. 6%, 28.5%, 28.9% and 19.9% of cases, respectively. Specific containers were used in 8.6% and 6.3% of cases for needles and syringes, respectively. 62% of the bottles and containers were thrown directly into the bin, whereas 15.5% were returned to a pharmacy (4.5% taken to hospitals, 2.9% were burned). At work: 63% of the patients brought their needles and syringes home for disposal, 6.9% kept suitable containers at work and 30% threw their materials directly into local bins. We conclude that awareness should be increased and the organization of the collection of used material improved

Contribution of arterial hypertension to vascular risk in diabetic patients

Hypertension is a major cardiovascular risk factor in diabetic subjects. Recent trials have suggested that blood pressure objectives should be < or = 140/80 mmHg. However, there is currently no evidence supporting any particular preferential drug strategy for this treatment objective

Causes of secondary hypertension in the young population: A monocentric study

Objective: To study the prevalence of different causes of hypertension in young adults referred to a hypertension center in the south west of France. Methods: We conducted a retrospective overview of patients younger than 40years old hospitalized consecutively in the Hypertension department of Toulouse University Hospital between 2012 and 2014. Clinical data about gender, age, anthropomorphic parameters and blood pressure measurement by 24h Ambulatory Blood Pressure Monitoring (ABPM) were recorded. Biological data concerned dosages of kalemia, renin and aldosterone in the supine or after 15min of seating. Recorded radiological examinations were renal artery ultrasound and abdominal CT scan. Results: One hundred and forty-eight detailed medical records were analyzed, 69 women and 79 men. Among the 69 women, the causes of secondary hypertension were primary aldosteronism (n=7), fibromuscular dysplasia (n=5) and renal disease (n=4). Oral contraceptives were involved in 13 women. In addition, essential hypertension concerned 40 women (58%). Among the 79 men, the causes of secondary hypertension were primary aldosteronism (n=10), fibromuscular dysplasia (n=3), left main renal artery entrapment by a diaphragmatic crura (n=2), renal disease (n=1), pheochromocytoma (n=3) and coarctation of the aorta (n=2). In addition, essential hypertension concerned 58 men (73%). Conclusions: In our population, the prevalence of secondary hypertension is close to 33% (42% of females and 27% of males), with the following main causes: primary aldosteronism for 11.5%; fibromuscular dysplasia for 5.4%. Oral contraceptives were involved in the hypertension of 19% of the females

Effect of postural changes on aldosterone to plasma renin ratio in patients with suspected secondary hypertension

Aims: To study the influence of postural changes on aldosterone to renin ratio (ARR) in patients with suspected secondary hypertension and to evaluate the sensitivity and specificity of the recommended seated ARR compared to supine and upright ARR for primary aldosteronism screening. Methods: Fifty-three hypertensive patients were prospectively hospitalized for secondary hypertension exploration (age: 51 ± 12, 66% males). After withdrawal of drugs interfering with renin angiotensin system, plasma aldosterone and direct renin concentration were measured in the morning, at bed after an overnight supine position, then out of bed after 1 hour of upright position and finally 2 hours later after 15 minutes of seating. Minimal renin value was set at 5 μUI/mL. Results: Referring to ARR cut-off of 23 pg/μUI, the sensitivity of seated ARR was 57.1% and specificity was 92.3%. The negative and positive predictive values were 95.1% and 45.2% respectively. Compared to these results, a cut-off of 19 improved sensitivity to 85.7% with a specificity of 89.7%. Negative and positive predictive values were 98.3% and 41.1% respectively. Seated ARR mean value was lower than supine and upright ARR mean values, due to an overall increase in renin at seating compared to the supine position by factor 1.9 while aldosterone just slightly increased by factor 1.2. Seated ARR correlated to supine and upright ARR: correlation coefficients (r) 0.90 and 0.93 respectively (P&lt;0.001). Conclusions: Current recommended measurement of ARR in the seating position is fairly correlated to supine and upright ARR. A suggested cut-off value of 19 instead of 23 pg/μUI increased the discriminating power of this test