Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria

Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research

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We present the case of a 59-year-old patient with malabsorption syndrome which started with polyneuropathy. Capsule endoscopy and enteroscopy show villous denudation. Histological study confirms diaphragm disease of the small bowel. Diaphragm disease is a rare disease characterized by the presence of multiple thin diaphragms, such as septa, that narrow the intestinal lumen. The clinical features can be iron deficiency anemia, intestinal obstruction, change in bowel habits or acute abdomen secondary to perforation. It is usually generally with sustained use of high doses of non-steroidal anti-inflammatory drugs. The diagnos...
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
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
This study aims to evaluate the associa...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review 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
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