Early initiation of breastfeeding within first hour of birth, exclusive breastfeeding for the first six months followed by continued breastfeeding for up to two years and beyond with appropriate complementary foods after completion of 6 months is the most appropriate feeding strategy. Micro-nutrient supplementation in infants, and adequate nutrition and anemia control for adolescent girls, pregnant and lactating mothers is advocated. Concepts and need for human milk banks in India has also been incorporated.
, Uttar Pradesh on children between 1-12 years with IDA. The sub-study was conducted in two parts: in the first part, levels of a biomarker of oxidative stress {malondialdehyde (MDA)} and anti-oxidant enzymes {superoxide dismutase (SOD), catalase (CAT), glutathione Peroxidase (GPx)} were assessed and compared between 67 children with IDA and 31 non-anaemic controls; in the second part, the effect of oral iron on these markers was studied in a subset of anaemic children. Aim: To study the levels of markers of oxidative stress and antioxidant status in children with IDA and to assess the effect of iron therapy on the same.
Materials and Methods:This prospective, single centre, hospital based study was a sub-study of a randomized controlled trial conducted in the
This observational study was conducted to determine the diagnostic accuracy of ELISA for the detection of anti-Salmonella typhi lipopolysaccharide (LPS) salivary immunoglobulin A (IgA) antibodies in 37 children with culture confirmed typhoid, 30 febrile controls with an alternative diagnosis and 30 healthy controls. The test was positive in 33/37 (89.2%) cases of typhoid, but negative in all patients in the two control groups. Maximum absorbance of anti-LPS IgA was observed during the second and third weeks of typhoid, with a progressive decline thereafter. The sensitivity of ELISA was 71.4%, 100%, 100%, 9.1% and 0%, in first, second, third, fourth and fifth week of illness, respectively. Further large scale studies measuring salivary anti-LPS IgA antibodies are needed to confirm the potential of saliva-based serology in children with suspected typhoid.
Beta-thalassaemia, including sickle cell anaemia and thalassaemia E, is most common in developing countries in tropical and subtropic regions. Because carriers have migrated there owing to demographic migration, β-thalassaemia can now be detected in areas other than malaria-endemic areas. Every year, an estimated 300 000-500 000 infants, the vast majority of whom are from developing countries, are born with a severe haemoglobin anomaly. Currently, some basic techniques, which include iron chelation therapy, hydroxyurea, blood transfusion, splenectomy and haematopoietic stem cell transplantation, are being used to manage thalassaemia patients. Despite being the backbone of treatment, traditional techniques have several drawbacks and limitations. Ineffective erythropoiesis, correction of globin chain imbalance and adjustment of iron metabolism are some of the innovative treatment methods that have been developed in the care of thalassaemia patients in recent years. Moreover, regulating the expression of B-cell lymphoma/leukaemia 11A and sex-determining region Y-box through the enhanced expression of micro RNAs can also be considered putative targets for managing haemoglobinopathies. This review focuses on the biological basis of β-globin gene production, the pathophysiology of β-thalassaemia and the treatment options that have recently been introduced.
Beta thalassemia is one of the most common inherited disorders in India with heterogenous clinical phenotypes from silent carrier to clinically severe ones. Our study aimed to characterize the mutation spectrum in thalassemia patients who are coming to the hospital for follow-up from the western region of Uttar Pradesh India. Patients and Methods: For the study, a case series of the retrospective bi-centre study was conducted. The patients from two thalassemia centers in the major hospitals (LLRMC Meerut, and JNMC, Aligarh administered by the Ministry of Health and Family Welfare (MoHFW)) in the Western Uttar Pradesh, India were considered for the study. A total of 77 blood samples were obtained from individuals (both related and unrelated) diagnosed with β-thalassemia after their consent. After DNA extraction, HBB gene amplification, mutation-specific polymerase chain reaction and gene sequencing were carried out to analyze the mutations. Results: In this study, seven different types of mutations were reported for the first time in Western Uttar Pradesh, India. A novel frameshift mutation, deletion of 4 nucleotides Codon 66/67 (-AAAG) in exon 2 region, is reported for the first time. IVS 1-5 (G>C) and Codon 41/42 (-CTTT) are the most frequently reported mutations. The molecular spectrum for these two cases consists of 44 and 42 alleles out of 108 alleles, respectively. Conclusion: A total of 108 β-thalassemia alleles were studied from 46 homozygous and 31 compound heterozygous patients. All the individuals were from 20 districts of the Western
Children in rural India are a vulnerable group for snake bites. Improper elicitation of history and atypical presentations could lead to misdiagnosis and delay in treatment. We are reporting the case of an 8-year-old male child who presented with convulsions, unconsciousness and hypertension who was initially managed as a case of hypertensive encephalopathy showing no sign of improvement even after 20 hs. The history when reviewed suggested neurotoxic snake bite although the patient did not have any classical local findings. Anti-snake venom administration was followed by prompt recovery. We therefore suggest that snake bite should be considered in patients from rural background presenting with hypertension, convulsion and unconsciousness, even in the absence of classical features of snake bite.
Background
Due to indels in the β-globin gene, patients with β-thalassemia major exhibit a range of severity, with genotype β0β0 > β0β+ > β+β+, according to the production level of the β-globin chain. More than 300 mutations have been identified in the β-globin gene.
Case presentation
In this case study, we report a compound heterozygous condition with a rare concoction of four different variants (CD 3(T > C), CD41/42 (-CTTT), IVS II-16 (G > C), and IVS II-666 (C > T) in a single β-globin gene. A regular transfusion-dependent 4-year-old male patient from India was included in the study. Augmented direct sequencing of the β-globin gene helped reveal the presence of an unusual combination of different variants in a single gene. This patient clinically presented as β-thalassemia major and was genotypically considered as β0β+, although CD41/42(-CTTT) was the only causative/pathogenic mutation in the disease severity.
Conclusion
Although CD41/42-(CTTT) is the only pathogenic variant among the four variants, the clinical complications of such a combination of variants (pathogenic and benign) is not well understood. Intronic mutations may have the ability to modify clinical characteristics. The variants must therefore be reclassified using additional mRNA splicing and expression-based studies. Additionally, these types of combinations may have significance in studying population migration around the world.
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