Publications by authors named "D'Souza P"

Background: Heart failure (HF) is a chronic condition with significant public health concerns. HF necessitates adequate knowledge and adherence to self-care for enhanced quality of life and decreased rehospitalization. This study aimed to explore knowledge and self-care behavior in patients with HF.

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  • Holy basil, also known as Tulsi, is valued for its health benefits in traditional medicine systems like Ayurveda, which include anti-inflammatory and antioxidant properties.
  • A scientific study assessed the safety of a standardized extract of Tulsi through various tests, including genotoxicity studies and an acute oral toxicity study on animal models.
  • The results indicated that the Tulsi extract is non-genotoxic and safe for oral consumption in doses up to 5000 mg/kg body weight in rats.
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Background: Aneurysmal bone cysts (ABCs) are rare, benign, yet locally aggressive lesions that contain blood-filled channels that rarely occur in the thoracic spine of adults. The literature on the treatment of spinal ABCs is sparse, but the consensus is to achieve gross-total resection (GTR) due to these lesions being locally aggressive and to prevent recurrence.

Observations: This report describes a 35-year-old female admitted with back pain and right T5 dermatome radiculopathy without any inciting events.

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GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.

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  • GM1-gangliosidosis (GM1) causes significant brain degeneration, making it difficult to use automated MRI techniques for brain volume analysis. An effective standardized segmentation protocol was created to analyze MRIs from patients with type II GM1.
  • A study involving 25 MRIs from 22 patients assessed the reliability of this segmentation method, focusing on various brain structures and evaluating the consistency between different raters.
  • Results showed that the technique had good inter- and intra-rater reliability, especially for juvenile patients, which can enhance future research and understanding of the disease's progression over time.
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  • PI4KA-related disorder is marked by a variety of neurological and gastrointestinal issues, including spasticity, developmental challenges, and recurrent infections, with specific attention given to the impact on B-cell function and immunodeficiency in some patients. * -
  • The study involved analyzing 13 patients with PI4KA variants, revealing common traits such as B-cell deficiency and hypogammaglobulinemia, alongside significant changes in B-cell subsets and functioning due to metabolic disruptions. * -
  • Findings indicate that mutations in PI4KA lead to disturbances in lipid production and metabolic pathways in B cells, fostering mitochondrial dysfunction and abnormal immune responses, suggesting a critical role of PI4KA in B-cell differentiation and health. *
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Background: The common femoral artery and radial artery constitute the most common access sites in contemporaneous endovascular neurosurgery. Oftentimes, it may be impossible to reach the vascular target safely due to different circumstances, necessitating alternative approaches. We aim to review these "last resource" access sites described in the literature, focusing on the technical aspects as a convenient reference.

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Background: Rational prescription writing is an important skill to master during internship. This Quality Improvement (QI) project aimed to understand the state of prescription writing among interns posted in the Department of Psychiatry, analyze the causes responsible for errors in prescription writing and bring about a change in the current practice.

Methods: The MBBS interns are posted in the Department of Psychiatry for 15 days.

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Background: Anxiety has been reported to be one of the most common epidemics in recent years. The present study focused on understanding the association between early menarche and the prevalence of anxiety and anxiety symptoms among adult undergraduate students.

Methods: This was an observational, case-control study.

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  • * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
  • * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
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In the 21 century, impact of social media, particularly Social Networking Sites (SNSs) has been linked to a wide range of human beliefs and expectations. Growing body of research has indicated that body image concerns along with exercise motivation and social comparison are on the rise among young adults. The present study aimed to examine the sex difference in body image, exercise motivation and social comparison among people who use Instagram in the age group 20-30.

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Background: Updated 2016 consensus guidelines recommend treatment for 14 days with concomitant therapy (proton-pump inhibitor (PPI)-amoxicillin-metronidazole-clarithromycin (PAMC) or bismuth-based quadruple therapy (PPI-bismuth-metronidazole-tetracycline, PBMT)) as first line, PBMT or PPI-amoxicillin-levofloxacin (PAL) as second or third line, and PPI-amoxicillin-rifabutin (PAR) as fourth line for 10 days.

Objectives: This was a retrospective cohort study to describe and compare the efficacy of anti- treatment regimens over the periods 2007-2015 and 2016-2021 as well as antibiotic resistance.

Methods: A modified intention-to-treat (mITT) analysis was used to analyze the success rate of therapies.

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Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.

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  • GM1 gangliosidosis (GM1) is a lysosomal disorder caused by mutations in the GLB1 gene, leading to serious neurodegeneration and currently has no approved treatments.
  • A study involving 41 patients with type II GM1 revealed distinct genetic variants and observed that many children had normal hearing and did not exhibit typical symptoms seen in type I GM1.
  • The research highlighted progressive brain atrophy and identified crucial correlations between brain chemistry changes and patient behavior scores, emphasizing the importance of this long-term study for improving diagnosis and developing future therapies.
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Humanitarian emergencies pose a significant global health challenge for children and young people's mental and psychological health. This systematic review investigates the effectiveness of mental health and psychosocial support (MHPSS) programmes delivered to children and young people affected by humanitarian emergencies in low- and middle-income countries (LMICs). Twelve electronic databases, key websites and citation checking were undertaken.

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Current serologic tests for HIV screening and confirmation of infection present challenges to the adoption of HIV vaccines. The detection of vaccine-induced HIV-1 antibodies in the absence of HIV-1 infection, referred to as vaccine-induced seropositivity/seroreactivity, confounds the interpretation of test results, causing misclassification of HIV-1 status with potential affiliated stigmatization. For HIV vaccines to be widely adopted with high community confidence and uptake, tests are needed that are agnostic to the vaccination status of tested individuals (ie, positive only for true HIV-1 infection).

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Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.

Methods: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder.

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  • GM1 gangliosidosis is a rare genetic disease mainly affecting children, characterized by neurodegeneration, and currently has no approved treatments but is under investigation through gene therapy and other trials.
  • A study involving 41 individuals with type II GM1 assessed various health factors, revealing unique characteristics and differences compared to type I infantile forms, such as normal hearing and specific heart issues in older children.
  • The study provided new insights into the disease's progression and aimed to correct misunderstandings about type II GM1, enhancing the knowledge base for future diagnosis and treatment approaches.
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Healthcare workers (HCWs) experienced significant mental health challenges during the COVID-19 pandemic. This review aimed to comprehensively assess the impact of the COVID-19 pandemic on the mental health of HCWs in India. We conducted a mixed-methods systematic review, which adopts a results-based convergent approach that incorporates quantitative and qualitative data.

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BACKGROUNDSystemic administration of adeno-associated virus (AAV) can trigger life-threatening inflammatory responses, including thrombotic microangiopathy (TMA), acute kidney injury due to atypical hemolytic uremic syndrome-like complement activation, immune-mediated myocardial inflammation, and hepatic toxicity.METHODSWe describe the kinetics of immune activation following systemic AAV serotype 9 (AAV9) administration in 38 individuals following 2 distinct prophylactic immunomodulation regimens. Group 1 received corticosteroids and Group 2 received rituximab plus sirolimus in addition to steroids to prevent anti-AAV antibody formation.

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  • Astroblastoma is a rare brain tumor mainly affecting older children, typically found in the frontoparietal regions of the brain.
  • A 32-year-old woman experienced a recurrence of her astroblastoma 21 years after it was initially removed and treated with radiation, now presenting with seizures and imaging showing significant tumor growth.
  • The surgical removal utilized a technique called 5-aminolevulinic acid (5-ALA), which helped in the resection process, and genetic testing of the tumor identified specific fusion transcripts linked to its development.
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  • - The NIH Undiagnosed Diseases Program (UDP) helps patients who have not been diagnosed despite extensive testing by using deep phenotyping and genomic testing under procedural anesthesia.
  • - A review of cases from 2008 to 2020 revealed that 249 pediatric patients underwent anesthesia for diagnostic reasons, with serious systemic and neurological conditions being common among them.
  • - The study found that while some perioperative complications occurred, most patients recovered fully, and nearly half received a diagnosis, largely thanks to the insights gained from the procedures done under anesthesia.
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Phytoremediation has been explored as a cost-effective method to remediate soil Pb contamination. A greenhouse study was conducted to evaluate the efficacy of , , , and for removing and immobilizing Pb in soil collected from the Westside Lead Superfund site in Atlanta. Plants were cultivated in sampled soil with a Pb concentration of 515 ± 10 mg/kg for 60 days.

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Background: Developing a workforce with the skills to produce and make judicious use of evidence for policy and practice decisions requires trainers who can tailor evidence and training to policy and practice priorities.

Aim: To describe how a collaborative learning model adapted a systematic review course to suit Indian nurse educators and research scholars in the conduct and use of systematic reviews.

Discussion: A collaborative learning team of academics and research scholars brought together expertise in nursing education in India, and evidence synthesis in India and the UK.

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The aim of the systematic review and meta-analysis is to determine the stress and stressors experienced by the parents of high-risk neonates admitted to the neonatal intensive care unit (NICU) in India. We included both quantitative and qualitative studies. The Joanna Briggs Institute Critical Appraisal Checklist and Critical Appraisal Skill Programme checklist were used to assess the quality of included studies.

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