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Ankolkar M.,National Health Research Institute | Salvi V.,Seven Hills Hospital | Warke H.,Seth G S Medical College | Vundinti B.R.,National Institute of Immunohematology | Balasinor N.H.,National Health Research Institute
Fertility and Sterility | Year: 2013

Objective: To study methylation aberrations in spermatozoa at developmentally important imprinted regions to ascertain their role in early embryo loss in idiopathic recurrent spontaneous miscarriages (RSM). Design: Case-control study. Setting: Academic research setting at National Institute for Research in Reproductive Health, Parel, Mumbai. Patient(s): Male partners of couples with a history of RSM and male partners of couples with proven fertility (control group). Intervention(s): None. Main Outcome Measure(s): DNA methylation levels at imprinting control regions of DLK1-GTL2, MEST (PEG1), and ZAC (PLAGL1) by Epityper Massarray and global methylation levels as measured by LINE-1 methylation and anti-5-methyl cytosine antibody in spermatozoa of 23 men in control group and 23 men in RSM group. Result(s): We did not observe any aberration in the total methylation levels in any of the imprinted genes or global methylation analyzed. Conclusion(s): Our results indicate that paternal methylation aberrations at imprinting control regions of DLK1-GTL2, MEST (PEG1), and ZAC (PLAGL1) and global methylation levels are not associated with idiopathic RSM and may not be good epigenetic markers (unlike the H-19 imprinting control region) for diagnosis of idiopathic RSM. © 2013 by American Society for Reproductive Medicine. Source

Devadathan K.,Government Medical College | Sreedharan M.,Government Medical College | Sarasam S.,Government Medical College | Colah R.B.,National Institute of Immunohematology | Kunju P.A.M.,Government Medical College
Journal of Child Neurology | Year: 2014

Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia are described, in whom the presence of cyanosis and methemoglobinemia confirmed the diagnosis of recessive hereditary methemoglobinemia type 2. Magnetic resonance imaging showed significant cerebellar atrophy in 2 of the 3 babies. In dark-skinned children, this condition is underdiagnosed, as mild cyanosis is difficult to detect. Screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. As there is no curative treatment for this autosomal recessive condition, the exact diagnosis offers the best chance for prenatal screening, by detecting deficient NADH - cytochrome b5 reductase enzyme activity or by identifying the specific mutation in cultured amniotic fluid cells. © The Author(s) 2014. Source

Sharma S.,Lady Hardinge Medical College and Hospital | Sharma G.,Lady Hardinge Medical College and Hospital | Chandra J.,Lady Hardinge Medical College and Hospital | Colah R.,National Institute of Immunohematology
Indian Journal of Pathology and Microbiology | Year: 2016

Haemoglobin (Hb) Agenogi is clinically asymptomatic, rare β-globin chain variant characterized by a substitution of glutamic acid by lysine at position 90 of β-chain. It elutes in the C-window on high-performance liquid chromatography (HPLC). We report a 10-year-old male with easy fatigability, lethargy, pallor, and mild splenomegaly. Hematological parameters revealed microcytic hypochromic anemia and mildly raised red blood cells count, suggestive of thalassemia trait. On HPLC, a predominant peak was observed in the C-window (82.6%) along with raised HbA 2 level (9.3%). Based on these findings, a possibility of HbC disease/β-thalassemia trait doubly heterozygous was considered. Family studies were advised. HPLC findings in father were suggestive of β-thalassemia trait, while both his mother and brother had an abnormal peak in the C-window of 42.7% and 40.8%, respectively, with elevated HbA 2 values of 5% and 4.9%, respectively. Direct DNA sequencing revealed intervening sequences 1-5 (G C) in father, confirming β-thalassemia trait. His mother and brother had heterozygous gene mutation at codon 90 of β-globin chain (G A) suggestive of Hb Agenogi. The child carried mutations for both β-thalassemia trait as well as Hb Agenogi. © 2016 Indian Journal of Pathology and Microbiology. Source

Shankarkumar U.,National Institute of Immunohematology | Shankarkumar A.,National Institute of Immunohematology
International Journal of Human Genetics | Year: 2011

Abacavir hypersensitivity reaction is a multi-organ systemic illness that occurs in approximately 5-8% of HIV-infected patients who initiate therapy with abacavir - associated strongly with HLA B*5701. Population studies have reported frequency of serologically defined HLA B17 splits B57 and B58 antigens, with molecular subtypes 31 for (B*5701-B*5731) and 28 for B*5801-B*5828) as of April 2010. HLA B57 frequency is 5 -20% in India. The incidence of abacavir hypersensitivity reported from Caucasian clinical trials is approximately 8% (range 2-9%). We analysed the B17 incidence among HLA association of 205 HIV-1 patients on anti-retroviral treatment. Ethnically age and sex matched 200 normal individuals served as controls. The ARV treated patients were evaluated for their CD4 counts by flowcytometry, and viral load monitoring by Taqman real time PCR method. HLA typing was done using conventional microlymphocytotoxicity assay. The prevalence of HLA B17 was found to be 13.17% in 205 patients compared to 7.75% in controls (OR=1.805; P value 0.011) which indicates that this particular HLA B17 and its subtype HLA B57 has to be considered when the antiretroviral treatment cocktail contains abacavir though costly in resource limited countries like India. © Kamla-Raj 2011. Source

Pradhan V.,National Institute of Immunohematology | Patwardhan M.,National Institute of Immunohematology | Rajadhyaksha A.,King Edward Memorial Hospital | Ghosh K.,National Institute of Immunohematology
Indian Pediatrics | Year: 2013

Pediatric onset systemic lupus erythematosus (SLE) is not uncommon and female to male ratio varies. Pediatric SLE patients have more severe disease at onset, higher rates of organ involvement and more aggressive clinical course than adults. We compared the clinical and immunological parameters among pediatric SLE and adult SLE from Western India. Twenty five children and 60 adult patients fulfilling American College of Rheumatology SLE criteria were included. Anti-nuclear antibodies, anti-ds DNA and complement (C3, C4) levels were tested. Of 25 pediatric SLE patients studied, 24% showed CNS involvement vs. 8.3% in adults SLE (P=0.0499). Lupus nephritis was seen in 75% adult patients vs. 52% among children. Hepatosplenomegaly was noted more among adult SLE 26.8% vs 12% among children. Alopecia was an exclusive features among adult SLE. Source

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