Fistule vésico-sigmoïdienne compliquant une bilharziose vesicale : à propos d’un cas exceptionnel

We report an original observation. We discuss the general features of this rare disease.
Source: African Journal of Urology - Category: Urology & Nephrology Source Type: research

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Publication date: Available online 14 February 2020Source: Drug Discovery Today: Disease ModelsAuthor(s): Daniela Braconi, Annalisa Santucci
Source: Drug Discovery Today: Disease Models - Category: Drugs & Pharmacology Source Type: research
Source: Neurological Sciences - Category: Neurology Source Type: research
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionColorectal squamous cell carcinoma is a rare disease. In cases of colorectal squamous cell carcinoma, metastatic disease at any other location has to be excluded. Human papillomavirus genotyping is essential in this context. Discussion of the treatment strategies should be interdisciplinary and include chemoradiation therapy and radical surgery.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
ConclusionsAvailable data on acromegaly in the elderly patient are sparse, but point to important differences. Further studies are needed comparing elderly with younger patients with acromegaly to better define a tailored diagnostic and therapeutic management.
Source: Endocrine - Category: Endocrinology Source Type: research
ConclusionsThe scarce presence of RCs in most of NCCPs may indicate low visibility and limited political understanding of their specificities. The critical issues emerging from the analysis are intended to improving the national policy frameworks addressing RC challenges and to place the NCCPs as strategic documents that must play a key role in this process.
Source: Journal of Cancer Policy - Category: Cancer & Oncology Source Type: research
Infective endocarditis (IE) is a relatively rare disease with frequent fatal outcome and devastating morbidity, with a long “intubation” period, in the sense that patients harboring IE-predisposing factors (congenital and rheumatic or other acquired heart diseases with valvular abnormalities, implanted artificial and biological valves and cardiac electronic devices, etc) may develop the disease decades after exposure to such factors. Antibiotic prophylaxis (AP) is recommended prior to invasive procedures (e.g.
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
In this webinar, Medpace partners with the Batten Disease Support and Research Association (BDSRA) to discuss the need to educate patients and their caregivers on the importance and increase of...(PRWeb February 13, 2020)Read the full story at https://www.prweb.com/releases/part_1_rare_disease_clinical_research_spotlight_on_the_patient_and_caregiver_upcoming_webinar_hosted_by_xtalks/prweb16908279.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence re...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractExtremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual contributory alleles are, themselves, extremely rare. We propose a new method to determine incidence of rare, severe, recessive disease in non-consanguineous populations that use known allele frequencies, estimate the combined allele frequency of observed alleles and estimate the number of causative al...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
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