Characterization of 40 novel HLA class I and class II alleles identified in umbilical cord blood units.

Forty novel HLA class I and class II alleles were identified in umbilical cord blood (UCB) samples and categorized based on various types of mutations: non-synonymous, synonymous, frameshift, and premature termination codon. This study described 14 novel HLA-A alleles, 9 novel HLA-B alleles, 4 novel HLA-C alleles, 3 novel HLA-DRB1 alleles and 10 novel HLA-DQB1 alleles. Comparing the new allele sequence with the most homologous sequence, 60% of the novel alleles exhibited non-synonymous substitution, 32.

Is chromium from stainless steel utensils responsible for epidemic of type 2 diabetes?

Type 2 diabetes prevalence is rising rapidly in developing world especially in India in last few decades. 'Thrifty phenotype' and 'westernization of lifestyle' is used to explain this epidemic. Chromium is an important modulator in insulin and glucose metabolism.

Craniomicromelic syndrome: first report in a male.

We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, pinched nose, microstomia, micrognathia, and narrow thorax. The consistent combination of these features with short appearing limbs as observed in this case establishes this syndrome as a distinct entity.

Chronic umbilical cord entanglements causing intrauterine fetal demise in the second trimester.

Entanglement of the umbilical cord with fetal body parts is known to occur in early pregnancy. This can potentially compromise the cord blood flow and cause fetal demise. We report 3 instances of intrauterine fetal deaths in the 2nd trimester of pregnancy with longstanding cord entanglement.

Plasma chitotriosidase activity in children with lysosomal storage disorders.

Chitotriosidase (ChT) is an enzyme that is selectively activated in tissue macrophage. This property of ChT makes it a potential marker for many disease process and prognostication. Present study has been carried out to know the significance of ChT as a screening marker in lysosomal storage disorders (LSDs) where tissue macrophage activation is commonly observed due to accumulation of substrate in various organs of the body.

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the anomaly segregates as an autosomal dominant trait. The phenotype was variable, ranging from unilateral to bilateral CL-P.