Velopharyngeal insufficiency as the initial manifestation of a Myotonic Dystrophy type 1: A case report

Velopharyngeal insufficiency (VPI) is a disorder affecting nasal resonance during speech. The most common cause of VPI is a cleft palate. However, VPI can occur as a consequence of a neuromuscular or neurologic disorder without a palatal malformation. Myotonic Dystrophy type 1 is a hereditary muscular disorder. In these cases, the abnormality is located on the 19q13.3 region, including a myotonic dystrophy protein kinase CTG repeat. This disease has several clinical manifestation features depending of the number of CTG repeats. The myotonic dystrophy can affect several muscle groups. VPI associated with the involvement of the velopharyngeal muscles, has been reported as the main clinical feature in some cases. The purpose of this paper is to present a case of VPI as the main clinical manifestation in a patient with a Myotonic Dystrophy type 1.     

Androgenetic alopecia and insulin resistance in young men

Background  Epidemiological studies have associated androgenetic alopecia (AGA) with severe young-age coronary artery disease and hypertension, and linked it to insulin resistance. We carried out a case–control study in age- and weight-matched young males to study the link between AGA and insulin resistance using the homeostasis model assessment of insulin resistance (HOMA-IR) index or metabolic syndrome clinical manifestations.
Methods  Eighty young males, 18–35 years old, with AGA ≥ stage III in the Hamilton–Norwood classification, and 80 weight- and age-matched controls were included. Alopecia, glucose, serum insulin, HOMA-IR index, lipid profile and androgen levels, as well as metabolic syndrome criteria, were evaluated.
Results  The HOMA-IR index was significantly higher in cases than controls. Nonobese cases had a higher mean diastolic blood pressure and a more frequent family history of AGA than nonobese controls. A borderline difference in the HOMA-IR index was found in obese AGA cases vs. obese controls [ P =  0·055, 95% confidence interval (CI) 2·36–4·20 vs. 1·75–2·73]. Free testosterone values were significantly higher in controls than cases, regardless of body mass index (BMI). A statistically significant additive effect for obesity plus alopecia was found, with significant trends for insulin, the HOMA-IR index, lipids and free testosterone when BMI and alopecia status were used to classify the participants.
Conclusions  Our results support the recommendation for assessing insulin resistance and cardiovascular-related features and disorders in all young males with stage III or higher AGA, according to the Hamilton–Norwood classification.     

Variceal ligation plus nadolol compared with ligation for prophylaxis of variceal rebleeding: a multicenter trial

beta-Blockers and endoscopic variceal ligation (EVL) have proven to be valuable methods in the prevention of variceal rebleeding. The aim of this study was to compare the efficacy of EVL combined with nadolol versus EVL alone as secondary prophylaxis for variceal bleeding. Patients admitted for acute variceal bleeding were treated during emergency endoscopy with EVL or sclerotherapy and received somatostatin for 5 days. At that point, patients were randomized to receive EVL plus nadolol or EVL alone. EVL sessions were repeated every 10 to 12 days until the varices were eradicated. Eighty patients with cirrhosis (alcoholic origin in 66%) were included (Child-Turcotte-Pugh A, 15%; B, 56%; C, 29%). The median follow-up period was 16 months (range, 1-24 months). The variceal bleeding recurrence rate was 14% in the EVL plus nadolol group and 38% in the EVL group (P = .006). Mortality was similar in both groups: five patients (11.6%) died in the combined therapy group and four patients (10.8%) died in the EVL group. There were no significant differences in the number of EVL sessions to eradicate varices: 3.2 +/- 1.3 in the combined therapy group versus 3.5 +/- 1.3 in the EVL alone group. The actuarial probability of variceal recurrence at 1 year was lower in the EVL plus nadolol group (54%) than in the EVL group (77%; P = .06). Adverse effects resulting from nadolol were observed in 11% of the patients. In conclusion, nadolol plus EVL reduces the incidence of variceal rebleeding compared with EVL alone. A combined treatment could lower the probability of variceal recurrence after eradication.     

Correlates of the shift in heart rate variability with an active postural change in a healthy population sample: The Atherosclerosis Risk In Communities study

Background The heart rate variability (HRV) response to postural change is a sensitive measure of the shift in autonomic balance from parasympathetic to sympathetic predominance that, when attenuated or absent, has been correlated with prevalent disease in patient populations. In a healthy population sample, we evaluated whether the shift in HRV with postural change differed by demographic characteristics as well as whether it differed between participants with established coronary heart disease (CHD) risk factors and their counterparts. Methods HRV was measured for 2 minutes in the supine and standing positions in a biracial sample of men and women (aged 45-64 years) without clinical CHD from the Atherosclerosis Risk In Communities Study (n = 7686). Mean differences among supine and standing mean R-R interval lengths, the SD of R-R intervals, and high-frequency power (HF) were compared by demographic characteristics (age, race, and sex) and CHD risk factors (smoking, obesity, physical activity, hypertension, and diabetes). Multivariable linear regression models were used to adjust for demographic characteristics. Results Smaller changes in R-R intervals and larger changes in SD of R-R intervals with standing were found among participants who were obese, less physically active than their counterparts, hypertensive, and diabetic. Smaller changes in HF were identified in male and white participants, but there were no differences in HF by CHD risk factors once models were adjusted for demographic characteristics. Conclusions These simple noninvasive measures can be used to detect differences in cardiac autonomic balance that may be markers for autonomic impairment in healthy adults. (Am Heart J 2002;143:808-13.)