Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency.

Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency. J Rheumatol. 2019 May 15;: Authors: Liebowitz J, Hellmann DB, Schnappauf O Abstract Three sisters of Northern European descent provided an opportunity to examine the longterm course and possible familial aspects of a rare disease, polyarteritis nodosa (PAN). Approval and consent was obtained from each patient. PMID: 31092714 [PubMed - as supplied by publisher]
Source: Journal of Rheumatology - Category: Rheumatology Tags: J Rheumatol Source Type: research

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ConclusionThough personalized treatment can be formalized to some extent, it is expected that medical treatment skills and management by tacit knowledge are affected in individualized treatment based on standardized treatment. Medical institutions and medical staff are the main body sharing and deploying measures to disseminate and utilize medical devices, cooperating with them can be an effective management of standardized and individualized treatment.
Source: Personalized Medicine Universe - Category: Drugs & Pharmacology Source Type: research
European Journal of Human Genetics, Published online: 23 June 2019; doi:10.1038/s41431-019-0451-0The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide
Source: European Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionComplete surgical resection should not be compromised by the resultant chest wall defect to prevent recurrence.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Schnitzler ’s syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
ConclusionsSmoking habit, AKI at diagnosis, ANA positivity and lumbar pain were associated with relapse of RF after initial remission due to steroid and/or TMX therapy; the combination of these conditions was also predictive of worse renal function outcome. Identification of risk factors for relapse can be useful not only to modulate the choice, the dosage of first-line treatment and the duration of maintenance therapy but also for preventing a progressive loss of kidney function, as well.
Source: Clinical and Experimental Nephrology - Category: Urology & Nephrology Source Type: research
Publication date: Available online 21 June 2019Source: NeuroscienceAuthor(s): Gabriele Ruffolo, Pierangelo Cifelli, Catarina Lourenço, Eleonora De Felice, Cristina Limatola, Ana M. Sebastião, Maria J. Diógenes, Eleonora Aronica, Eleonora PalmaAbstractThe investigation on neurotransmission function during normal and pathologic development is a pivotal component needed to understand the basic mechanisms underlying neurodevelopmental pathologies. To study these diseases, many animal models have been generated which allowed to face the limited availability of human tissues and, as a consequence, the most o...
Source: Neuroscience - Category: Neuroscience Source Type: research
CONCLUSION: Gaucher disease type 1 can be responsible for apparently isolated thrombocytopenia. The disease must be looked for if the thrombocytopenia is associated with unexplained hypergammaglobulinemia or hyperferritinemia. Diagnosing immune thrombocytopenia without bone marrow sample requires to systematically pay attention to any clinical or biological abnormality, not to ignore rare differential diagnoses. PMID: 31213336 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a wel...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Researchers at Hesperos, Inc., a biotech firm based in Florida, have collaborated with Roche and the University of Central Florida to develop a multi-organ lab-on-a-chip system for drug testing. The device includes human organ-derived tissue construc...
Source: Medgadget - Category: Medical Devices Authors: Tags: Materials Medicine Source Type: blogs
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