Abstract
Background
Infantile Tremor Syndrome (ITS) is a disorder of infancy, and characterized by developmental delay and/or regression, pallor, skin hyperpigmentation and hypopigmented hair. It is ...commonly seen in infants in whom exclusive breastfeeding is given inappropriately for longer durations than recommended. ITS is predominantly reported from the Indian subcontinent and in children from a lower socioeconomic background. It is a clinical diagnosis and vitamin B12 deficiency is the most commonly accepted etiology of this entity.
Objectives
The primary objectives of study were to compare the plasma and urine amino acid levels among children with ITS spectrum with those of healthy children. The secondary objectives were to compare the plasma and urine amino acid levels among children with ITS and Pre-ITS.
Study design
This cross-sectional, observational study was carried out at a tertiary care hospital in North India.
Participants
A total of 50 children aged < 36 months with ITS/Pre-ITS were enrolled. Children with Pre-ITS and ITS were compared with healthy age-matched study subjects.
Results
Thirty-nine (78%) cases and twelve (24%) healthy children had low serum vitamin B12 levels. Folate levels were normal in all the controls, while only one case had folate deficiency. There were significant differences (p < 0.05) in the values of 32 amino acids in plasma. Among 44 urinary amino acids, levels of 30 amino acids were significantly different in the cases compared with the controls (p < 0.05).
Conclusions
Several changes in amino acids in the children suffering from ITS were observed. These changes may be a reflection of the metabolic derangements in ITS.
Objective: The current work sought to optimize Berberine hydrochloride (BBH)-loaded microspheres by examining the link between design parameters and experimental results. Methods: BBH-loaded ...microspheres were prepared by using the water-in-oil emulsion cross-linking process and optimized with a three-factor, three-level Box-Behnken design (BBD). Grafted gum polyvinyl alcohol (PVA) ratio (w/w) (A), Revolutions per minute (RPM) (B), and Span 20 (%) (C) were independent variables. The dependent variables were Percent Entrapment Efficiency (% EE) (R1), Percent Drug Loading (% DL) (R2), and Particle Size (µm) (R3). The generated polynomial equations and response surface plots were used to relate the dependent and independent variables. Microscopic examination, %EE, and % DL were determined to evaluate the optimized formulation. Fourier transforms infrared (FT-IR) spectroscopy studies and stability studies of optimized formulation were also carried out. Results: The optimized formulation (FMS6) had a polymer content of 2% w/v Grafted gum (36.96): PVA (63.04), a span 20 (0.78 %), and a prepared at the speed of 1225.92 rpm. The observed responses were close to the improved formulation's predicted values. The particle size, % EE, and % DL were found to be 1.10 µm, 82.79% and 16.48%, respectively. FT-IR spectroscopy study indicated that the drug was entrapped in microspheres. Conclusion: BBD provides a systematic approach to optimize the BBH microsphere preparation process. Additionally, the stability study results confirmed that FMS6 is not only the ideal formulation but also stable, ensuring its suitability for practical applications.
We have previously observed concomitant events of mutations in mitochondrial and nuclear genes, along with elevated reactive oxygen species (ROS) and differential methylation within the promoters of ...nuclear genes in tumors and in vitro experiments of tumorigenesis. These observations have made it pertinent to replicate and understand the role of acquired mitochondrial condition in tuning a cell to accomplish a pro-cancerous state. Using a codon optimized vector system for exogenous over-expression and mitochondrial localization; we have characterized here the role of over-expressed wild type mtND5 and one of its non-synonymous somatic mutation, ND5:P265H. The ectopically over-expressed ND5:P265H in mitochondria resulted in a reduced Complex I activity, generation of higher ADP/ATP ratio, reactive oxygen species (ROS) and carbonylation of proteins as compared to mock-transfected cells. Cells over-expressing mtND5 variant produced both peroxide as well as super-oxide ROS; the generation of which was dependent on the functional status of P53; modulating epigenetically the expression of key apoptosis pathway genes. The pro-cancerous phenotypes, of anchorage dependent and independent growth; increased glucose uptake and lactate production, were selectively observed only in P53 non-functional cells over-expressing mutant ND5:P265H. We propose that somatic mutation in mtND5 resulting in down-regulated complex I enzyme activity, elevated ROS and up-regulation of a set of nuclear anti-apoptotic genes epigenetically in the P53 dysfunctional cellular background, has provided a unique understanding of the molecular mechanism of mitochondrial mutation; and the concomitant existence of somatically acquired mitochondrial and nuclear p53 mutations, in cancer progression and promotion.
Background: Thalasemia and other hemoglobinopathies are found in all the states of India and their prevalence is quite variable. In Uttar Pradesh very few studies are found which explore the spectrum ...of hemoglobinopathies. There is no such study which identifies the geographic distribution of high-risk communities with frequencies of hemoglobinopathies. Aim: Present study was carried out to determine the prevalence of hemoglobinopathies in different regions and castes of Uttar-Pradesh (UP) state. Materials and Methods: This is a preliminary community based cross-sectional, hospital based study, conducted at King George’s Medical University, Lucknow, Uttar- Pradesh. Subjects aged between 18 to 65 years were enrolled for sampling. The anticoagulated blood was used for performing CBC (complete blood count), and hemoglobin electrophoresis to measure hemoglobinopathies. Results: The present study revealed higher(28/194;19.5%,p<0.05) prevalence of hemoglobinopathies in Lucknow district as compared to other districts of Uttar-Pradesh and Brahmin caste having high frequency (33/112;29.5%) followed by Jaiswal (3/13;23.1%) and Arora (2/9;22.2%). Conclusion: The data regarding prevalence and distribution can be useful in prevention and management of various hemoglobinopathies which play a vital role in the hospital blood bank as well as in the formulation of transfusion policies.DOI: http://dx.doi.org/10.3126/ajms.v6i5.12339 Asian Journal of Medical Sciences Vol.6(5) 2015 21-25
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