Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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We report the case of a 61 year old man who presented with irritative voiding symptoms and gross hematuria. Cystoscopy showed diffuse urothelial erythema and a posterior bladder wall ulcer. Bladder biopsy revealed marked eosinophilic cystitis with ulceration. Urine culture grew Candida glabrata. After treatment with oral fluconazole, his voiding symptoms resolved and subsequent bladder biopsy revealed a complete dearth of eosinophils. This is the first case report linking eosinophilic cystitis to Candida glabrata.
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 17 July 2019Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyAuthor(s): Hercílio Martelli Júnior
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
BACKGROUND: Surfer's myelopathy is a non-traumatic spinal cord injury that was first described in a publication in 2004. However, most emergency physicians are not familiar with this rare disease. CASE PRESENTATION: The patient was a 19-year-old female nov...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Recreational and Sports Issues Source Type: news
Two important publications have recently highlighted the study of rare diseases and the collaboration of studying these conditions.1,2 A rare disease affects fewer than 200,000 people in the United States, less than 250,000 people in the European Union and under 50,000 patients in Japan.1 The concept of rare disease, according to the World Health Organization and adopted by the Ministry of Health of Brazil, refers to a disorder that affects up to 65 people in every 100,000 individuals, i.e. 1.3 for every 2,000 people (http://portalms.saude.gov.br/saude-de-a-z/doencas-raras).
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: Letter To The Editor Source Type: research
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Source: Human Vaccines and Immunotherapeutics - Category: Allergy & Immunology Authors: Source Type: research
This study describes the optical coherence tomography and optical coherence tomography angiography features of three eyes of three patients affected by contractile morning glory syndrome. Optical coherence tomography angiography scans of the peripapillary retina revealed a dense microvascular network without any vascular difference between the superficial vascular plexus and the deep vascular plexus around the optic nerve. These optical coherence tomography angiography findings confirm that the contractile movement could be due to the presence of an autonomic cholinergic muscular mechanism in the posterior part of the glob...
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Cl ínicas de Porto Alegre). The activities of this research group enabled its participation in several international multicenter clinical research protocols related to the natural history or therapy development for rare genetic diseases. This participation has allowed the development of personal skill s and institutional facilities for clinical research. The clinical research developed in our center has raised the quality of the med...
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research
The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proxi...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Prompted by the statements of anti-tobacco groups throughout the country claiming that vaping causes popcorn lung, a new organization was launched this past Thursday to confront this new and alarming epidemic among young people. The organization is called the American Popcorn Lung Association (APLA) and it has aTwitter feed (@LungPopcorn)." Popcorn lung " is a serious, progressive lung disease that is technically known as bronchiolitis obliterans. The disease results in obstruction of the smallest airways in the lung. The disease is irreversible and can be fatal. A lung transplant is the only definitive treatment...
Source: The Rest of the Story: Tobacco News Analysis and Commentary - Category: Addiction Source Type: blogs
Visceral disseminated varicella zoster virus (VDVZV) infection is a rare disease with a high mortality rate (55%) in immunocompromised patients, but it is not yet widely recognized in the field of nephrology. ...
Source: BMC Infectious Diseases - Category: Infectious Diseases Authors: Tags: Case report Source Type: research
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