Publications by authors named "Raju Shah"

While Hepatitis A Virus (HAV) vaccination in global immunization programs has shown a virtual elimination of the disease within few years of the vaccination program, changing epidemiological landscape in India underscores the need for evidence-based, updated guidance on immunization practices. In May 2024, a panel of 15 distinguished opinion leaders and an organizing committee convened for an intensive, face-to-face advisory board meeting on high burden of HAV infection among adults, increased mortality rate in adolescents, symptomatic presentation in children, and evolving landscape globally and within India. Extensive comparable deliberations on long-term follow-up data from India and data from country of origin advocated immunogenicity, tolerability, and long-term protective effects of single-dose live attenuated HAV vaccine in children.

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This case report examines a rare cardiovascular abnormality, the Aberrant Aortic Origin of the Right Coronary Artery (AAORCA), in a 75-year-old patient with a history of myocardial infarction, acute renal injury, and cardiogenic shock. Rapid medical intervention, including coronary angioplasty, demonstrated the significance of prompt care. Chronic issues, including tobacco use and left ventricular dysfunction, complicated matters, emphasizing the importance of comprehensive long- term therapy.

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Article Synopsis
  • Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
  • This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
  • The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
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and pathogens, the causative agents of babesiosis and malaria, are vector-borne intraerythrocytic protozoan parasites, posing significant threats to both human and animal health. The widespread resistance exhibited by these pathogens to various classes of antiparasitic drugs underscores the need for the development of novel and more effective therapeutic strategies. Antifolates have long been recognized as attractive antiparasitic drugs as they target the folate pathway, which is essential for the biosynthesis of purines and pyrimidines, and thus is vital for the survival and proliferation of protozoan parasites.

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  • Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
  • Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
  • The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.
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Introduction: Worm infestations are a common occurrence in low-income countries. Anemia due to iron deficiency can be brought on by human intestinal worms. The authors report a case of an 86-year-old frail older adult with upper gastrointestinal (GI) bleeding caused by a worm infestation most likely to be hookworm.

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Key Clinical Message: Idiopathic Castleman disease transforming into Diffuse Large B-cell Lymphoma has an aggressive course and can lead to mortality. Hence, early diagnosis and intervention are required.

Abstract: Idiopathic Castleman disease transforming into non-Hodgkin lymphoma has an aggressive course, poor prognosis, and high mortality rate.

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Background: Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated secretory cytokines in the body. It occurs as a primary HLH due to genetic defect that mostly occurs in the childhood and associated with early neonatal death. Secondary HLH is triggered by secondary to infection and can occur at any age.

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Background: Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. To date, nearly 460 mutations have been described in the GBA1 gene.

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Background: Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140 mutations, including large deletion/duplications, in TPP1 genes have been reported in the literature. The present study includes 34 unrelated Indian patients (12 females and 22 males) having epilepsy, visual impairment, cerebral atrophy, and cerebellar atrophy.

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Vaccination is amongst the best strategies to improve child survival and reduce morbidity. Vaccines represent the most cost effective and simple intervention to protect against distressing epidemics. There are mortality and morbidity related benefits derived from preventing infectious diseases through vaccination; these include financial benefits by avoiding hospitalization, preventing long-term disability and increased productivity.

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Background: Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material.

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Varicella, an acute viral systemic infection that may cause lifelong latent infection with the potential for causing clinical reactivation, may be prevented by immunization. The present study was an open label, randomized, controlled, phase III, multicentre trial, conducted to evaluate and compare the safety, tolerability and immunogenicity of a freeze dried live attenuated Oka strain Varicella Vaccine (VR 795 Oka strain) with Varilrix (Oka-RIT strain) in children. A total of 268 healthy Indian children aged 12 months to 12 y with baseline VZV IgG antibody (<100 mIU/ mL) were enrolled, and 256 children completed the study.

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Multivariate regression calibration using multiple linear regression (MLR), principle component regression (PCR) and partial least squares regression (PLSR) algorithm was performed on Pu, Pu, Pu and Pu atom% abundances to predict Pu isotopic abundance. The MLR algorithm was found to be the best among these three algorithms. The effect of Pu composition on the Pu abundance prediction was found to be small but significant especially for achieving high accuracy of <0.

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Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings.

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Chitotriosidase (ChT) is an enzyme that is selectively activated in tissue macrophage. This property of ChT makes it a potential marker for many disease process and prognostication. Present study has been carried out to know the significance of ChT as a screening marker in lysosomal storage disorders (LSDs) where tissue macrophage activation is commonly observed due to accumulation of substrate in various organs of the body.

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The study was planned to assess and compare the immune response and safety of an indigenous DTPwHB-Hib pentavalent liquid combination vaccine (Shan 5) with Easyfive and TritanrixHB+ Hiberix, the two available pentavalent combination vaccines. Four hundred infants were randomized to receive three doses of either Shan 5 or one of the two comparators. Antibody analysis was performed prior to and four to six weeks post third vaccine dose.

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Objective: To evaluate the safety and immunogenicity of an indigenous hepatitis B, diphtheria, tetanus and B. pertussis tetravalent vaccine (Shantetra) in comparison with Tritanrix HBTM in healthy Indian infants.

Design: Multicentric, randomized, single blind intention-to-treat study with 12-18 weeks of follow up period.

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Medically inappropriate, ineffective and economically inefficient use of antimicrobials is commonly observed in the health care units throughout the world especially in the developing countries. Antimicrobial stewardship programs attempt to balance the demand for these life-saving drugs with the need to preserve their future efficacy. A comprehensive evidence-based stewardship program should include elements chosen from the recommendations based on local antimicrobials use and resistance problems and on available resources that may differ, depending on the size of the institution or clinical setting.

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A major proportion of injections administered in India are unsafe. Unsafety is due to (1) steps that are associated with increased risk of spread of blood borne viruses and (2) errors related to technique of injection and faulty habits. Recommendations of Indian Academy of Pediatrics revolve round the following points: Equipment related, safe injection practices, best injection techniques, rational injection practices, prevention of needle stick injuries and reducing disease transmission recommendation for HIV-PEP (postexposure prophylaxis), HBV-PEP, disposal of syringes and sharps.

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