Publications by authors named "C Gadepalli"
Article Synopsis
- - Granulomatosis polyangiitis (GPA) is a rare autoimmune disorder that inflames small blood vessels, potentially affecting various body parts, and is often challenging to diagnose due to the possibility of negative antibodies and inconclusive biopsy results.
- - A case study is presented of a patient who faced an airway emergency due to nasal cavity inflammation, with a negative ANCA test and inconclusive tissue biopsy results, leading to urgent treatment requiring airway dilatation and a regimen of cyclophosphamide.
- - Over more than 4 years of follow-up, the patient has shown no relapse of symptoms, illustrating the importance of comprehensive clinical management for this serious condition.
Mucopolysaccharidoses (MPSs) are rare congenital lysosomal storage disorders due to a deficiency of enzymes metabolising glycosaminoglycans, leading to their accumulation in tissues. This multisystem disease often requires surgical intervention, including valvular cardiac surgery. Adult MPSs have complex airways making anaesthesia risky.
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- Mucopolysaccharidosis VII (Sly syndrome) is a rare genetic disorder caused by a deficiency in the enzyme beta-glucuronidase, leading to the build-up of certain sugars (GAGs) in the body's tissues and resulting in various health issues.
- A case study of a 31-year-old man diagnosed at age 28 highlights the challenges of identifying the condition due to its diverse symptoms, which included developmental delays, scoliosis, and hearing impairments.
- Genetic testing revealed two mutations associated with MPS VII, demonstrating the disease's complex nature while the patient maintained a stable condition into adulthood with symptomatic treatment.
Mucopolysaccharidoses (MPS) are rare lysosomal storage diseases characterized by multiorgan involvement and shortened longevity. Due to advances in therapies such as enzyme replacement therapy and haematopoietic stem cell therapy, life expectancy has increased posing newer challenges to patients and health professionals. One such challenge is cardiovascular manifestations of MPS, which can be life limiting and cause reduction in quality of life.
View Article and Find Full Text PDFMucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span.
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