133 results match your criteria: "and Maulana Azad Medical College[Affiliation]"

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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Aim: Hemophilic pseudotumor (HP) is a very rare complication of hemophilia seen in only 1-2% of the cases. Although it is much more common in long bones, pelvis and small bones of hands and feet and very rarely involving jaw bones.

Method And Result: In the present case, the presence of a rare hemophilic pseudotumor of the mandible with the positive history of Hemophilia B justifies that the history, clinical and radiological examinations were sufficient to arrive at conclusive diagnosis precluding invasive diagnostic procedures such as biopsy hence avoiding the risk of hemorrhage, infection, or fistula.

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Article Synopsis
  • 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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  • Monkeypox is a disease caused by the monkeypox virus, transmitted through contact with fluid secretions, and its symptoms start with fever and chills before developing into a rash.
  • Diagnosis is done through a polymerase chain reaction test, and the treatment is mainly supportive care.
  • The decline of the smallpox vaccine has led to increased susceptibility to monkeypox, which is now spreading globally, prompting the WHO to declare a public health emergency in July 2022 due to its rapid transmission and potential to evolve into a pandemic.
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Establishment of a core outcome set for burn care research: development and international consensus.

BMJ Med

July 2022

Centre for Surgical Research, Population Health Sciences, Bristol Biomedical Research Centre, Bristol Medical School, University of Bristol, Bristol, UK.

Objective: To develop a core outcome set for international burn research.

Design: Development and international consensus, from April 2017 to November 2019.

Methods: Candidate outcomes were identified from systematic reviews and stakeholder interviews.

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 Our aim was to assess the sinonasal magnetic resonance imaging (MRI) features of acute invasive fungal rhinosinusitis (AIFRS) in coronavirus disease (COVID)-associated mucormycosis (CAM) and to correlate these with histopathology and patient outcome in terms of duration of hospital stay and survival at 10 weeks.  Twenty patients with histopathologically confirmed sinonasal CAM underwent MRI (including postcontrast T1-weighted and diffusion-weighted imaging). Histopathological findings (presence of coagulative necrosis, granulomatous reaction, and fungal burden) were recorded and all patients were followed up at 6 and 10 weeks.

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Article Synopsis
  • This study evaluates the retinal health of 80 patients who have recovered from COVID-19 using optical coherence tomography angiography (OCTA) to assess various parameters.
  • The cohort, primarily male (67.5%), had a mean age of approximately 52 years and was found to have several comorbidities, including hypertension and diabetes.
  • Results indicated that while most subjects had normal OCT scans, issues like posterior vitreous detachment and epiretinal membranes were noted in a small percentage of eyes, suggesting potential retinal changes post-recovery from SARS-CoV-2.
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Purpose: To study the effect of wound size modulation on pre-existing astigmatism by on-axis placement of incision in manual small-incision cataract surgery (MSICS).

Methods: In this prospective interventional study conducted at a tertiary care centre, 40 eyes of 40 consecutive senile cataract patients with 1.00-3.

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The manual small-incision cataract surgery (MSICS) is instrumental in tackling cataract-induced blindness in developing countries, especially with a sizeable proportion being hard brunescent cataracts. MSICS has a unique set of complications related to wound construction, the creation of the capsular opening, and the technique of nuclear delivery. A poorly constructed sclero-corneal tunnel or a small capsulorhexis hampers the nuclear extraction, and the extensive intracameral maneuvers increase the chances of postoperative corneal edema and iritis.

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Objective: The foveal avascular zone (FAZ) is the round capillary-free zone within the macula and is supplied only by a single-layered parafoveal capillary arcade. This study aimed to evaluate the quantitative FAZ and retino-choroidal vessel density (VD) using optical coherence tomography angiography (OCTA) in a healthy Indian population.

Methods: This was a cross-sectional observational study that was conducted for evaluating the quantitative FAZ and retino-choroidal VD of 200 eyes of 100 healthy Indian subjects, including 62 males and 38 females (age range 17-50 years) having the best-corrected visual acuity (BCVA) of logMAR 0 (20/20; 6/6) and spherical equivalent refractive error of not more than 1 D.

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The reports of vascular adverse events in the eye following COVID-19 vaccination are infrequent. We report the case of a healthy male who developed central retinal vein occlusion in his left eye three days following administration of the first dose of Covishield vaccine. As the underlying systemic and ocular risk factors were absent and laboratory investigations were normal, vein occlusion appeared to probably result from the vaccine.

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Article Synopsis
  • Inborn errors of ketogenesis are rare, serious metabolic disorders that typically cause acute health crises in infants and children due to lipolytic stress, specifically HMGCS and HMGCL deficiencies.* -
  • The study analyzed four patients, their clinical and biochemical data, and utilized advanced genetic testing techniques like whole-exome sequencing to diagnose and understand these conditions, noting that three cases were life-threatening.* -
  • Dietary interventions were implemented, including moderated fat intake and low leucine diets, resulting in no major health issues for the patients in the long-term follow-up, with all living individuals doing well without neurological damage.*
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Objective: This study aimed to examine predictors of retinal nerve fiber layer (RNFL) parameters following scleral buckling (SB) surgery for primary rhegmatogenous retinal detachment (RRD) and to determine the influence of the magnitude of change in qualitative and quantitative parameters on RNFL.

Methods:  In an observational prospective study, 40 subjects who underwent successful retinal reattachment with SB surgery done within one month of RRD were evaluated for the parameters of best-corrected visual acuity (BCVA), refractive error, intraocular pressure (IOP), axial length (AL), anterior chamber depth (ACD), angle opening distance (AOD 500 and AOD 750), trabecular iris surface area (TISA 500 and TISA 750), visual fields, and ganglion cell count (GCC) and RNFL before and three months after SB. We additionally noted qualitative factors like extent, location, and type of buckle; phakic status; and grade of proliferative vitreoretinopathy in the affected eye.

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MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 144 Indian patients with MPS II from 130 unrelated families. Clinical information was collected on a predesigned clinical proforma.

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Background: Pycnodysostosis is an autosomal recessive skeletal dysplasia with easily recognizable clinical features and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 25 Indian patients with pycnodysostosis from 20 families.

Methods: Clinical information was collected on a predesigned clinical proforma.

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Objective: To determine the prevalence of unintentional injuries and its associated factors among under-five children in Rural Delhi.

Methods: This community based cross-sectional study was conducted in Pooth Khurd village of Delhi during 2018 among under-five children and their care givers. Primary caregivers of the child in the randomly selected households were interviewed using a semi-structured pretested questionnaire.

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