Tuberculosis treatment spills the beans on Wilson's disease and more.

Drug-induced liver injury (DILI) is an unwarranted problem and has been a scourge in the treatment of tuberculosis (TB) infection in general and children in particular. Usually, when the Antituberculosis treatment (ATT) regime is temporarily interrupted and modified, DILI subsides, and the whole treatment can be completed under supervision. We report a case of ATT-induced DILI not improving despite modification in the ATT regime, which ultimately led to the revealing of a yet unreported constellation of syndromes that included Wilson Disease, 46 XX gonadal dysgenesis, and Mayer Rokitansky Kuster Hauser (MRKH) Syndrome.

Markers of renal function tests.

BACKGROUND: The markers of renal function test assess the normal functioning of kidneys. These markers may be radioactive and non radioactive. They indicate the glomerular filtration rate, concentrating and diluting capacity of kidneys (tubular function). If there is an increase or decrease in the valves of these markers it indicates dysfunction of kidney. AIM: The aim of this review is to compare and analyze the present and newer markers of renal function tests which help in diagnosis of clinical disorders. MATERIAL #ENTITYSTARTX00026; METHODS: An extensive literature survey was done aiming to compare and compile renal function tests makers required in diagnosis of diseases. RESULTS: Creatinine, urea, uric acid and electrolytes are makers for routine analysis whereas several studies have confirmed and consolidated the usefulness of markers such as cystatin C and ß-Trace Protein. CONCLUSION: We conclude that further investigation is necessary to define these biomarkers in terms of usefulness in assessing renal function.

Type 1 diabetes mellitus with ketoacidosis in infancy.

Type 1 diabetes mellitus is considered a common form of diabetes mellitus in young people. Type 1 diabetes in infants is rare. However, the condition is rare in infants. Type 1 diabetes has not been reported in the literature in 45 days old child of an Indian population. Type 1 diabetes typically begins between the ages of 7 and 13 years, but 1-3% of patients are under 1 year of age. This communication describes a case of type 1 diabetes in a 45 days old male child which presented as diabetic ketoacidosis. It was effectively managed with continuous intravenous regular insulin infusion. The present report is made because of the rarity of the condition in the early age group of Indian children.

A review on laboratory liver function tests.

Laboratory liver tests are broadly defined as tests useful in the evaluation and treatment of patients with hepatic dysfunction. The liver carries out metabolism of carbohydrate, protein and fats. Some of the enzymes and the end products of the metabolic pathway which are very sensitive for the abnormality occurred may be considered as biochemical marker of liver dysfunction. Some of the biochemical markers such as serum bilirubin, alanine amino transferase, aspartate amino transferase, ratio of aminotransferases, alkaline phosphatase, gamma glutamyl transferase, 5' nucleotidase, ceruloplasmin, α-fetoprotein are considered in this article. An isolated or conjugated alteration of biochemical markers of liver damage in patients can challenge the clinicians during the diagnosis of disease related to liver directly or with some other organs. The term "liver chemistry tests" is a frequently used but poorly defined phrase that encompasses the numerous serum chemistries that can be assayed to assess hepatic function and/or injury.

Familial early onset of type-2 diabetes mellitus and its complications.

BACKGROUND: Globally, the prevalence of chronic, non-communicable diseases is increasing at an alarming rate. Furthermore, approximately 197 million people worldwide have impaired glucose tolerance. Consequently, diabetes is rapidly emerging as a global health problem that threatens to assume a pandemic level by 2030. In Indian population, genetic predisposition to trigger diabetes at an early age as compared to western counterpart has been focused very much. AIM: To gain further insight into the positive correlation between the diabetes and family history was the objective of this study. MATERIALS AND METHODS: Patients attending the Diabetes Centre, K.L.E.S Dr. Prabhakar. Kore Hospital and Medical Research Centre; J. N. Medical College; KLE University Belgaum, Karnataka- India, were recruited, diagnosed and analyzed as per WHO criteria. RESULTS: The prevalence of diabetes was higher among patients with diabetic mother (25.6%) compared to patients with diabetic father (21.2%) and there was early onset of type -2 diabetes among patients having both parents with diabetic when compared to other patients. CONCLUSION: Based on the present observation, it would be appropriate to emphasize again that a strong family history for diabetes, would signal at an early age, the onset of diabetes perhaps with its complications.

Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population.

We have analyzed single nucleotide polymorphisms (SNPs) in the XPC, XPA, and XPG genes of the nucleotide excision repair (NER) pathway in the Indian population. In the XPC gene we observed nine polymorphisms in the coding region, four polymorphisms in the intronic region, and two polymorphisms in the 5' untranslated region (UTR). In the XPA gene we observed one frequent SNP (allele frequency 0.48) within the 5' UTR at the 1665 position in a large proportion of the sample. In addition, we observed three novel heterozygous polymorphisms (a C to A transversion at position 1523 and a G to A transition at positions 1418 and 1458, with an allele frequency of 0.004) within the promoter region. In silico PCR analysis demonstrated that all three novel polymorphisms lie within a putative CpG island and that the variation at position 1418 falls within the potential GATA1/2/3 transcription factor(s) binding site and also within the negative control element. We performed a gel retardation assay with HeLa cell nuclear extract with an oligonucleotide encompassing this region. One of the alleles found at position 1458 of the XPA gene showed a significant change in protein-DNA interaction. In the XPG gene we found five polymorphisms in the coding region and one each in the 5' UTR of exon 1 and in intron 13.