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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
DiscussionIn opposition to a widespread opinion, LIS persons report a relatively satisfactory QoL level that stays stable over time, suggesting that life with LIS is worth living. Preservation of autonomy and communication may help them to live as normal life as possible.
Source: Orphanet Journal of Rare Diseases - July 19, 2015 Category: Internal Medicine Authors: Marie-Christine RousseauKarine BaumstarckMarine AlessandriniVéronique BlandinThierry Billette de VillemeurPascal Auquier Source Type: research

Ambrisentan and Tadalafil Upfront Combination Therapy in Scleroderma-Associated PAH.
CONCLUSIONS: Upfront ambrisentan and tadalafil therapy significantly improved hemodynamics, RV structure and function, and functional status in treatment naïve SSc-PAH patients and may represent a very effective therapy for this patient population. In addition, we have identified novel hemodynamic and imaging biomarkers that could have potential value in future clinical trial trials. Clinical trial registration available at www.clinicaltrials.gov, ID NCT01042158. PMID: 26360334 [PubMed - as supplied by publisher]
Source: American Journal of Respiratory and Critical Care Medicine - September 11, 2015 Category: Respiratory Medicine Authors: Hassoun PM, Zamanian RT, Damico R, Lechtzin N, Khair R, Kolb TM, Tedford RJ, Hulme OL, Housten T, Pisanello C, Sato T, Pullins EH, Corona-Villalobos CP, Zimmerman SL, Gashouta MA, Minai OA, Torres F, Girgis RE, Chin K, Mathai SC Tags: Am J Respir Crit Care Med Source Type: research

Atrial Myxomas and different clinical presentations
Primary cardiac tumors are rare diseases and Myxomas are the most common among them. Interesting is their heterogeneity in clinical presentation. These differences include silent forms with benign clinical course, cardioembolic stroke, angina pectoris, atrial fibrillation, myocardial infarction, paraneoplastic syndromes, syncope. [1–16]
Source: International Journal of Cardiology - September 22, 2015 Category: Cardiology Authors: F. Messina, P. Romano, S. Crosca Source Type: research

Self-Advocacy
On August 18, 2008 I went up to the office to do a load of xeroxing, throwing my bag in the back seat of the car. When I got to school, however, something was wrong. Though early in the am, it was like I was drunk, with walking wobbly and difficult. Being a compulsive, I idiotically worked for half an hour, holding on to the copying machine to steady myself. Then I drove home (second stupid act), called the health help line, where they told me to get to the ER. And don't drive! Once there, they figured I had had a stroke and put me on coumadin, a powerful blood thinner. Three days later, in the evening, a nurse wrote on my...
Source: Healthy Living - The Huffington Post - November 16, 2015 Category: Consumer Health News Source Type: news

Pediatric Homonymous Superior Quadrantanopia in the Presence of Acute Vertebral Artery Dissection
Conclusions: Most patients with vertebral artery dissection present with signs of posterior circulation ischemia consisting of neurological deficits, headaches, or neck pain. This case report highlights the unique clinical features and diagnostic imaging seen in the work-up of this rare disease process and exemplifies the importance of identifying acute visual symptoms in an emergency situation.
Source: Pediatric Emergency Care - December 1, 2015 Category: Emergency Medicine Tags: Illustrative Cases Source Type: research

NIH genome sequencing program targets the genomic bases of common, rare disease
(NIH/National Human Genome Research Institute) The National Human Genome Research Institute and other institutes will fund genome sequencing centers to focus on understanding the genomic bases of common and rare human diseases. The Centers for Common Disease Genomics will use genome sequencing to explore the genomics of common diseases such as heart disease, diabetes, stroke and autism. NHGRI is also funding the next phase of the Centers for Mendelian Genomics, which will investigate the genomic underpinnings of rare, inherited diseases.
Source: EurekAlert! - Medicine and Health - January 14, 2016 Category: Global & Universal Source Type: news

An estimation of the incidence of tuberous sclerosis complex by a nationwide retrospective cohort study from 1997 to 2010
ConclusionsThis is the first large scale and longitudinal incidence study of TSC. This study provides compelling evidences in humans that TSC mutations are associated with decreased risk of peptic ulcers.This article is protected by copyright. All rights reserved.
Source: British Journal of Dermatology - January 23, 2016 Category: Dermatology Authors: C.‐H. Hong, H.‐P. Tu, J.‐R. Lin, C.‐H. Lee Tags: Original Article Source Type: research

An estimation of the incidence of tuberous sclerosis complex by a nationwide retrospective cohort study from 1997 to 2010.
CONCLUSIONS: This is the first large scale and longitudinal incidence study of TSC. This study provides compelling evidences in humans that TSC mutations are associated with decreased risk of peptic ulcers. This article is protected by copyright. All rights reserved. PMID: 26800857 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - January 23, 2016 Category: Dermatology Authors: Hong CH, Tu HP, Lin JR, Lee CH Tags: Br J Dermatol Source Type: research

NIH genome sequencing program targets the genomic bases of common, rare disease
The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. The National Human Genome Research Institute (NHGRI), part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced the next phase of a complementary program, the Centers for Mendelian Genomics (CMG), which will continue investigating the genomic underpinnings of ra...
Source: NHGRI Press Releases - January 14, 2016 Category: Genetics & Stem Cells Source Type: news

Severe Cerebral Venous and Sinus Thrombosis: Clinical Course, Imaging Correlates, and Prognosis
Conclusion The outcome of severe CVT is almost equally divided between severe impairment or death and survival with no or only mild handicap. Specifically, space-occupying mass effect and associated neurologic deterioration seem to determine a poor outcome. Therefore, early detection and treatment of mass effect should be the focus of critical care.
Source: Neurocritical Care - March 20, 2016 Category: Neurology Source Type: research

An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997–2010)
ConclusionsThis is the first large‐scale and longitudinal incidence study of TSC. This study provides compelling evidence that TSC mutations in humans are associated with a decreased risk of peptic ulcers.
Source: British Journal of Dermatology - April 16, 2016 Category: Dermatology Authors: C.‐H. Hong, H.‐P. Tu, J.‐R. Lin, C.‐H. Lee Tags: Epidemiology Source Type: research

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Abstract BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain, angiokeratomas, proteinuria and renal failure, left ventricular hypertrophy and stroke. Fever is also a possible symptom at the onset of the disease during childhood and adolescence, but it is frequently misdiagnosed, causing a delay in FD diagnosis. METHODS: We retrospectively analysed the medical records i...
Source: European Journal of Internal Medicine - April 11, 2016 Category: Internal Medicine Authors: Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Dagna L, Manna R Tags: Eur J Intern Med Source Type: research

Cerebral venous thrombosis during tuberculous meningoencephalitis.
Abstract Cerebral venous thrombosis is a rare disease characterized by its clinical polymorphism and multiplicity of risk factors. Infections represent less than 10% of etiologies. Tuberculosis is not a common etiology, only a few observations are published in the literature. Between January 2005 and March 2015, 61 patients were hospitalized for neuro-meningeal tuberculosis. Among them, three young women had presented one or more cerebral venous sinus thromboses. No clinical feature was observed in these patients; vascular localizations were varied: sagittal sinus (2 cases), lateral sinus (2 cases) and transver...
Source: Journal des Maladies Vasculaires - April 14, 2016 Category: Cardiology Authors: Guenifi W, Boukhrissa H, Gasmi A, Rais M, Ouyahia A, Hachani A, Diab N, Mechakra S, Lacheheb A Tags: J Mal Vasc Source Type: research

Diseases Neglected by the Media in Espírito Santo, Brazil in 2011–2012
Conclusions Media visibility acts as a strategy for legitimising priorities and contextualizing various realities. Therefore, we propose that the health problems identified should enter the public agenda and begin to be recognized as legitimate demands.
Source: PLoS Neglected Tropical Diseases - April 25, 2016 Category: Tropical Medicine Authors: Aline Guio Cavaca Source Type: research

Be Aware and Beware: Chronic Fatigue Syndrome Is an Equal Opportunity Disease
Chronic Fatigue Syndrome, or CFS, is an innocuous name given to a debilitating disease. Its seriousness is better indicated by the term Myalgic Encephalomyelitis (ME), a label preferred by many of its victims. On May 17-18, the Department of Health and Human Services hosted the biannual public meeting of the Chronic Fatigue Syndrome Advisory Committee by webinar. This was a fitting time for such a meeting, as May is International ME/CFS Awareness Month. The trigger for CFS/ME is not known. The lack of research on the disease means there is no truly effective and widely available therapy that would allow the more serious...
Source: Healthy Living - The Huffington Post - May 20, 2016 Category: Consumer Health News Source Type: news