Pseudomembranous colitis in a child

A 7-year-old male child with a history of fever of 1-month duration, treated with ceftriaxone for 10 days, developed foul-smelling bloody loose stools associated with severe abdominal cramps. Colonoscopy revealed yellowish-white pseudomembranes suggestive of pseudomembranous colitis which is uncommon in pediatric age group

Enteric fever complicated by hemophagocytic lymphohistiocytosis: an unusual case report

We report the case of a 15-year-old girl with enteric fever, a common infectious disease in developing countries, who presented with multiple unusual complications including pancreatitis, myocarditis and thrombocytopenia in the first week and who developed secondary hemophagocytic lymphohistiocytosis, a clinical masquerade, secondary to Salmonella typhi infection. The patient recovered completely with appropriate antibiotics, intravenous steroids and supportive treatment, with complete resolution of the symptoms

Short Communication - Missense mutation G296S in GATA4 is not responsible for cardiac septal defects

Background : The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene. Aims: The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population. Materials and Methods :GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing. Results and Conclusion :Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septal defect in Mysore population is caused due to mutations in other regions of the GATA4 gene

Short Communication - Missense mutation G296S in GATA4 is not responsible for cardiac septal defects

Background : The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene. Aims: The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population. Materials and Methods :GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing. Results and Conclusion :Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septal defect in Mysore population is caused due to mutations in other regions of the GATA4 gene

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India

Background & Objectives: Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital Heart Disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent Ductus Arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B mutations in CHD patients of Mysore. Methods: With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B was performed. Results: The analysis did not show any of the five mutations of TFAP2B screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India. Interpretation & Conclusions: The findings suggest the lack of involvement of known mutations of TFAP2B with syndromic or nonsyndromic CHDs in Mysore patients

Nuclear Co-repressor 1: A Potential Candidate Gene in the Manifestation of Congenital Heart Diseases

The heart is the first organ formed during embryogenesis. The development of the heart is controlled by a network of pathways involving various transcription factors and signalling. Disruptions of these factors lead to the manifestation of congenital heart disease (CHD). The ventricular septal defects (VSD) of CHD are more frequent in the Indian population, particularly in Mysuru. In view of this, to identify defective genes in ventricular septal development, whole-exome sequencing was performed in seven cases of non-syndromic VSDs and three cases of Tetralogy of Fallot. The exome data analysis revealed that of all the defective genes identified, Nuclear Co-repressor 1 (NCoR1) is the prominent gene. It showed four non-synonymous damaging single nucleotide variants, that is, G244A, C241T, G207C and G121A. These mutations were present in the GPS2 protein domain, an integral part of NCoR1-HDAC complex involved in myogenesis. Further, pathway enrichment and network analysis indicated that NCoR1 interacts with HEY1, HEY2, MEF2A, NOTCH2 and HDAC3 proteins involved in heart development. Hence, defects in NCoR1 are responsible for VSD in heart development

Association between pericentric inversion in chromosome 9 and congenital heart defects

Congenital heart disease (CHD) is the leading cause of mortality in the first year of life. Prevalence of CHD worldwide is found to range from 1.0 to 50.89 per 1000 livebirths including India. The association of these defects with chromosomal anomalies varies between 4 to 12%. In the present investigation, we report two different cases of pericentric inversion of chromosome 9 inv(9)(p11-q13), associated with Total Anomalous Pulmonary Venous Connection (TAPVC) and Tetralogy of Fallot (TOF). In one of the cases (TOF), the mother had similar inversion without CHD. We predict here that, the genes responsible for the normal heart development could be present on chromosome 9 around p11-q13 region, which might have been defective during the process of inversion and thereby resulted in CHD. To our knowledge, this is the maiden report of association of inversion with CHD from South India