Clinical, biochemical and haematological changes in leptospirosis

Background: Leptospirosis is a globally important zoonotic disease caused by pathogenic leptospira. Leptospira species are spirochetes belonging to the order spirochetes and the family leptospiraceae. Present study is done to find out the incidence of thrombocytopenia in leptospirosis and to correlate it with other parameters like renal dysfunction, hepatic dysfunction and bleeding manifestation.Methods: Study includes 51 clinically suspected and diagnosed cases of leptospirosis, in Government hospital, South Gujarat, during a period from January 2017 to December 2017. Clinical signs and symptoms and complications, biochemical profile like bilirubin and creatinine, haematological profile like Hb, WBC count and platelet count were recorded. Thrombocytopenia was defined as a platelet count below 1,50,000/cmm.Results: The present study includes 51 cases of Leptospirosis. Age ranged from 16 years to 61 years (male-39 and Females-12) There were 38 (74.5%) cases with thrombocytopenia and 13 (25.4%) cases with normal platelet count. Out of 38 thrombocytopenic cases, 32 (84.2%) cases had renal dysfunction, 26 (68.4%) cases had hepatic dysfunction and 16 (42.1%) cases had pulmonary haemorrhage. Among 13 cases with normal platelet count, 8 (61.5%) cases had hepatic dysfunction and 7 (53.8%) cases had renal dysfunction and 3 (23%) cases had pulmonary haemorrhage.Conclusions: Thrombocytopenia is a frequent complication (present in more than half of the patient) in leptospirosis and associated with more frequent and more severe complications. Therefore, early recognition of thrombocytopenia is recommended to prevent complications and mortality in leptospirosis

Effects of Supervised Exercise-based Telerehabilitation on Walk Test Performance and Quality of Life in Patients in India with Chronic Disease: Combatting COVID-19

Background: The world is currently undergoing a pandemic, caused by the SARS-CoV-2 virus (COVID-19). According to the World Health Organization, patients with chronic illnesses appear to be at the highest risk for COVID-19 associated sequelae. Inability to participate in outpatient-based rehabilitation programs and being home-bound can increase the risk for and potential worsening of chronic health conditions. This study evaluated the short-term effects of telerehabilitation on patients’ walk test performance and health related quality of life (HRQoL).  Methods: 47 patients (23 cardiovascular, 15 pulmonary, 9 oncology) participated in the telerehabilitation program. At baseline and following a 1-month intervention, patients had their 6-minute walk test distance (6MWTD) and HRQoL assessed. Average daily step counts were measured by the PACER App. Conclusion: Our results indicate that a short-term, supervised virtual telerehabilitation program had significant positive effects on 6MWTD and HRQoL in cardiac, pulmonary and oncology patients during COVID-19

First Results from MFOSC-P : Low Resolution Optical Spectroscopy of a Sample of M dwarfs within 100 parsecs

Mt. Abu Faint Object Spectrograph and Camera (MFOSC-P) is an in-house developed instrument for Physical Research Laboratory (PRL) 1.2m telescope at Mt. Abu India, commissioned in February 2019. Here we present the first science results derived from the low resolution spectroscopy program of a sample of M Dwarfs carried out during the commissioning run of MFOSC-P between February-June 2019. M dwarfs carry great significance for exoplanets searches in habitable zone and are among the promising candidates for the observatory's several ongoing observational campaigns. Determination of their accurate atmospheric properties and fundamental parameters is essential to constrain both their atmospheric and evolutionary models. In this study, we provide a low resolution (R$\sim$500) spectroscopic catalogue of 80 bright M dwarfs (J$<$10) and classify them using their optical spectra. We have also performed the spectral synthesis and $\chi^2$ minimisation techniques to determine their fundamental parameters viz. effective temperature and surface gravity by comparing the observed spectra with the most recent BT-Settl synthetic spectra. Spectral type of M dwarfs in our sample ranges from M0 to M5. The derived effective temperature and surface gravity are ranging from 4000 K to 3000 K and 4.5 to 5.5 dex, respectively. In most of the cases, the derived spectral types are in good agreement with previously assigned photometric classification.Comment: Accepted for Publication in MNRA

Clinical and epidemiological characterization of severe Plasmodium vivax malaria in Gujarat, India.

The mounting evidence supporting the capacity of Plasmodium vivax to cause severe disease has prompted the need for a better characterization of the resulting clinical complications. India is making progress with reducing malaria, but epidemics of severe vivax malaria in Gujarat, one of the main contributors to the vivax malaria burden in the country, have been reported recently and may be the result of a decrease in transmission and immune development. Over a period of one year, we enrolled severe malaria patients admitted at the Civil Hospital in Ahmedabad, the largest city in Gujarat, to investigate the morbidity of severe vivax malaria compared to severe falciparum malaria. Patients were submitted to standard thorough clinical and laboratory investigations and only PCR-confirmed infections were selected for the present study. Severevivax malaria (30 patients) was more frequent than severe falciparum malaria (8 patients) in our setting, and it predominantly affected adults (median age 32 years, interquartile range 22.5 years). This suggests a potential age shift in anti-malarial immunity, likely to result from the recent decrease in transmission across India. The clinical presentation of severe vivax patients was in line with previous reports, with jaundice as the most common complication. Our findings further support the need for epidemiological studies combining clinical characterization of severe vivax malaria and serological evaluation of exposure markers to monitor the impact of elimination programmes

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA). METHODS AND FINDINGS: CMA was performed clinically on 2513 postnatal samples from patients referred with a variety of clinical phenotypes. The initial 775 samples were studied using CMA array version 4 and the remaining 1738 samples were analyzed with CMA version 5 containing expanded genomic coverage. Overall, CMA identified clinically relevant genomic imbalances in 8.5% of patients: 7.6% using V4 and 8.9% using V5. Among 117 cases referred for additional investigation of a known cytogenetically detectable rearrangement, CMA identified the majority (92.5%) of the genomic imbalances. Importantly, abnormal CMA findings were observed in 5.2% of patients (98/1872) with normal karyotypes/FISH results, and V5, with expanded genomic coverage, enabled a higher detection rate in this category than V4. For cases without cytogenetic results available, 8.0% (42/524) abnormal CMA results were detected; again, V5 demonstrated an increased ability to detect abnormality. Improved diagnostic potential of CMA is illustrated by 90 cases identified with 51 cryptic microdeletions and 39 predicted apparent reciprocal microduplications in 13 specific chromosomal regions associated with 11 known genomic disorders. In addition, CMA identified copy number variations (CNVs) of uncertain significance in 262 probands; however, parental studies usually facilitated clinical interpretation. Of these, 217 were interpreted as familial variants and 11 were determined to be de novo; the remaining 34 await parental studies to resolve the clinical significance. CONCLUSIONS: This large set of clinical results demonstrates the significantly improved sensitivity of CMA for the detection of clinically relevant genomic imbalances and highlights the need for comprehensive genetic counseling to facilitate accurate clinical correlation and interpretation

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in patients with ACD/MPV and MCA. Subsequently, we have identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic ACD/MPV and MCA. Custom-designed, high-resolution microarray analysis of additional ACD/MPV samples revealed one microdeletion harboring FOXF1 and two distinct microdeletions upstream of FOXF1, implicating a position effect. DNA sequence analysis revealed that in six of nine deletions, both breakpoints occurred in the portions of Alu elements showing eight to 43 base pairs of perfect microhomology, suggesting replication error Microhomology-Mediated Break-Induced Replication (MMBIR)/Fork Stalling and Template Switching (FoSTeS) as a mechanism of their formation. In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. These differences reveal the phenotypic consequences of gene alterations in cis