Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is a rare genetic disorder, characterized by infantile-onset epilepsy, hypotonia, global developmental delay, dysmorphic features, and variable congenital anomalies involving the cardiac, skeletal, and genitourinary systems. It is caused by the homozygous or compound heterozygous mutation in the phosphatidylinositol glycan class T (PIGT) gene. Only fewer cases were reported in the literature till now.

Purification and characterization of β-galactosidase from newly isolated Aspergillus terreus (KUBCF1306) and evaluating its efficacy on breast cancer cell line (MCF-7).

β-galactosidases (EC 3.2.1.

Presurgical nasoalveolar molding: A boon to facilitate the surgical repair in infants with cleft lip and palate.

Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon.

Instrument-independent software tools for the analysis of MS-MS and LC-MS lipidomics data.

Mass spectrometry (MS), particularly electrospray-MS, is the key tool in modern lipidomics. However, as even a modest scale experiment produces a great amount of data, data processing often becomes limiting. Notably, the software provided with MS instruments are not well suited for quantitative analysis of lipidomes because of the great variety of species present and complexities in response calibration.