Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exaggerated lumbar lordosis, and late ossification of the epiphyses. Identification of disease-causing variants in heterozygous state in COMP establishes the molecular diagnosis of PSACH. We examined 11 families with clinical features suggestive of PSACH. In nine families, we used Sanger sequencing of exons 8-19 of COMP (NM_000095.2) and in two families exome sequencing was used for confirming the diagnosis. We identified 10 de novo variants, including five known variants (c.925G>A, c.976G>A, c.1201G>T, c.1417_1419del, and c.1511G>A) and five variants (c.874T>C, c.1201G>C, c.1309G>A, c.1416_1421delCGACAA, and c.1445A>T) which are not reported outside Indian ethnicity. We hereby report the largest series of individuals with molecular diagnosis of PSACH from India and reiterate the well-known genotype-phenotype corelation in PSACH.

Structured hypertension education program for people with type 2 diabetes, the SHED study.

OBJECTIVES: There is enough evidence that patient education and lifestyle modification has shown benefits in diabetes care, however the evidence is less for improving care of hypertension. Our study is the first in the UK to assess the impact of a structured hypertension education program in subjects with type 2 diabetes. DESIGN: Prospective randomised controlled study. SETTING AND INTERVENTION: From a diabetes clinic in a district and general hospital in UK 132 participants were equally randomised into intervention group and control group. Intervention included a once weekly education session for 4 weeks together with home blood pressure monitoring and dose changes in antihypertensives. Base line data was recorded with follow up after 3 and 6 months. RESULTS: More participants achieved target BP in the intervention group versus control. This difference appeared early at the 3rd months (48.8% versus 20.4% respectively, p = 0.007) and remained at the 6th month (58.1% versus 20.4% respectively, p < 0.001). The change in number of pills was significantly lower in the intervention group. The mean increase in antihypertensive pills was 0.22 ± 0.48 (13 ± 30% increase) in the intervention group versus 0.62 ± 0.68 (41 ± 60% increase) in the routine group (p = 0.014), denoting less need to escalate treatment. CONCLUSION: We demonstrated that our structured education program has led to a significantly higher percentage of participants achieving the BP target, early after intervention, together with a significant reduction in the number of antihypertensive pills.