Variation in the insertion of the palmaris longus tendon

The palmaris longus is harvested as a tendon graft in various surgical procedures. We herein report the variations in the insertion of the palmaris longus tendon. During a routine dissection, a rare variation in the insertion of the palmaris longus tendon was observed. In the left forearm, the palmaris longus tendon bifurcated, while in the right forearm, the palmaris longus tendon trifurcated, giving rise to an accessory muscle, which passed superficial to the ulnar artery and ulnar nerve. The accessory muscle was supplied by a deep branch of the ulnar nerve, and the ulnar artery was observed to be tortuous. During reconstructive surgeries, surgeons should bear in mind the accessory muscle. Also, since the palmaris longus muscle provides a very useful graft in tendon surgery, every surgeon should be aware of the variations in the insertion of the palmaris longus tendon.     

Carrier analysis and prenatal diagnosis of haemophilia A in North India

The feasibility of DNA diagnosis for haemophilia A in North India was evaluated using intragenic polymorphic DNA markers in factor VIII gene for linkage analysis as well as direct detection of inversion mutation in intron 22 of the gene. The informativity of RFLP (HindIII, BclI and XbaI) and STR (introns 13 and 22) markers for linkage analysis in factor VIII gene was determined in 100 normal individuals. The observed heterozygosity for RFLP markers HindIII, BclI and XbaI was 0.63, 0.60 and 0.48 while that of STR markers introns 13 and 22 were 0.60 and 0.40 respectively. Six and four alleles were identified for introns 13 and 22 and the most frequent allele was 13(CA)26 and 22(AG)n(GT)26 with an allele frequency of 0.53 and 0.62 respectively. The heterozygosities observed for RFLP markers was higher (>70%) than the STR markers (50%) in the affected families with haemophilia A. Inversion mutation was detected in 37% of severely affected patients. Based on present and previous studies from India, a strategy has been proposed to provide molecular diagnosis to a large number of undiagnosed cases of haemophilia A.     

Renpenning syndrome in an Indian patient

Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent.     

3,4-Hydropyrimidin-2-(1H)one derivatives: solid silica-based sulfonic acid catalyzed microwave-assisted synthesis and their biological evaluation as antihypertensive and calcium channel blocking agents

Microwave assisted simple, efficient procedure for one-pot Biginelli condensation reaction of aldehydes, β-ketoesters, and urea or thiourea in solvent-free condition employing solid silica-based sulfonic acid as a novel, heterogeneous reusable catalyst is described. Compared to the classical Biginelli reaction conditions, the present method has the advantages of good yields, short reaction times, and experimental simplicity. The newly synthesized compounds have been screened to in vitro antihypertensive and calcium channel blocking activity done by IC₅₀ measurement method with nifedipine as standard.     

Analysis of late risk of systemic blood pressures <120/80 mm Hg

We studied categories of blood pressure (BP) <120/80 mm Hg as predictors of hypertension 10 to 22 years later by logistic regression analyses with 6 covariates. There was progressively increased risk for subjects with systolic BP 100 to 109 and 110 to 119 mm Hg (vs <100 mm Hg) or diastolic BP 70 to 74 and 75 to 79 mm Hg (vs <70 mm Hg). These relations were similar in men, women, and several ethnic groups but stronger in subjects <40 years old. These data suggest a definition of optimal BP of <100/70 mm Hg, similar to usual BP levels in children <10 years old.