The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.

Background: Mucopolysaccharidoses are a group of inherited lysosomal storage disorders consisting of 7 distinct clinical types and numerous subtypes. These are the result of deficiency of certain lysosomal degradative enzymes which are required to breakdown Glycosaminoglycans. The clinical features observed among Mucopolysaccharidoses subtypes show overlapping signs and symptoms with other lysosomal storage disorders and rheumatologic disorders.

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Plasma chitotriosidase originates from activated macrophages and is reported to be elevated in many Lysosomal Storage Disorders. Measurement of this enzyme activity has been an available tool for monitoring therapy of Gaucher disease. The degree of elevation of chitotriosidase is useful for differential diagnosis of Gaucher disease and Niemann Pick A/B.

The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.

Lysosomal storage disorders are a group of rare, genetically inherited metabolic disorders. Because the literature on epidemiologic data is scanty from India, we attempted to determine their relative frequency and regional distribution. Our retrospective study included 1558 patients with clinical suspicion of various lysosomal storage disorders referred to Sandor Lifesciences Pvt Ltd during 2007 to 2012.

Raman spectroscopy provides a powerful, rapid diagnostic tool for the detection of tuberculous meningitis in ex vivo cerebrospinal fluid samples.

In this letter, we propose a novel method for diagnosis of tuberculous meningitis using Raman spectroscopy. The silicate Raman signature obtained from Mycobacterium tuberculosis positive cases enables specific and sensitive detection of tuberculous meningitis from acquired cerebrospinal fluid samples. The association of silicates with the tuberculosis mycobacterium is discussed.

Increasing role of cytogenetics in pediatric practice.

Karyotyping was done in 100 children suspected of having chromosomal abnormalities of genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation, and Down syndrome. A total of 56 patients had an abnormal karyotype: ring chromosome of 13 was seen in 1 patient (1.78%), and trisomy 21 was seen in 29 patients (51.

Growth phase-dependent regulation and stringent control of fis are conserved processes in enteric bacteria and involve a single promoter (fis P) in Escherichia coli.

The intracellular concentration of the Escherichia coli factor for inversion stimulation (Fis), a global regulator of transcription and a facilitator of certain site-specific DNA recombination events, varies substantially in response to changes in the nutritional environment and growth phase. Under conditions of nutritional upshift, fis is transiently expressed at very high levels, whereas under induced starvation conditions, fis is repressed by stringent control. We show that both of these regulatory processes operate on the chromosomal fis genes of the enterobacteria Klebsiella pneumoniae, Serratia marcescens, Erwinia carotovora, and Proteus vulgaris, strongly suggesting that the physiological role of Fis is closely tied to its transcriptional regulation in response to the nutritional environment.