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Condition: Rare Diseases
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Total 294 results found since Jan 2013.
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
Paediatric arterial ischemic stroke: acute management, recent advances and remaining issues
Stroke is a rare disease in childhood with an estimated incidence of 1-6/100.000. It has an increasingly recognised impact on child mortality along with its outcomes and effects on quality of life of patients and their families. Clinical presentation and risk factors of paediatric stroke are different to those of adults therefore it can be considered as an indipendent nosological entity. The relative rarity, the age-related peculiarities and the variety of manifested symptoms makes the diagnosis of paediatric stroke extremely difficult and often delayed. History and clinical examination should investigate underlying diseas...
Source: Italian Journal of Pediatrics - December 2, 2015 Category: Pediatrics Authors: Margherita RosaSilvana De LuciaVictoria RinaldiJulie Le GalMarie DesmarestClaudio VeropalumboSilvia RomanelloLuigi Titomanlio Source Type: research
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
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
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
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
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
Research progress on vertebrobasilar dolichoectasia.
Authors: Yuan YJ, Xu K, Luo Q, Yu JL
Abstract
Vertebrobasilar dolichoectasia (VBD) is a rare disease characterized by significant expansion, elongation, and tortuosity of the vertebrobasilar arteries. Current data regarding VBD are very limited. Here we systematically review VBD incidence, etiology, characteristics, clinical manifestations, treatment strategies, and prognosis. The exact incidence rate of VBD remains unclear, but is estimated to be 1.3% of the population. The occurrence of VBD is thought to be due to the cooperation of multiple factors, including congenital factors, infections and immune status, and...
Source: International Journal of Medical Sciences - June 3, 2015 Category: Biomedical Science Tags: Int J Med Sci Source Type: research
Review of Primary Intraventricular Hemorrhage Reveals Dichotomous Outcomes (P3.089)
Conclusion: PIVH is rare, with high morbidity and mortality, though in our study, a substantial percentage had a good outcome. Decreased LOC was the most common presentation. Hypertension was the most common contributing factor, followed by coagulopathy. Vascular lesions were less common than expected. More research is needed to fully understand this rare disease entity.Disclosure: Dr. Sirdar has nothing to disclose. Dr. Song has nothing to disclose. Dr. Ess has nothing to disclose. Dr. Jhu has nothing to disclose. Dr. Cutting has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Sirdar, B., Song, S., Ess, K., Jhu, R., Cutting, S. Tags: Cerebrovascular Disease and Interventional Neurology: Intracerebral Hemorrhage Source Type: research
Ella’s story: Two rare diseases and the NICU roller coaster ride
“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU.
Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuria), a second rare genetic disorder, ...
Source: Thrive, Children's Hospital Boston - March 5, 2015 Category: Pediatrics Authors: Lisa Fratt Tags: Our patients’ stories Source Type: news
Secured web-based video repository for multicenter studies
We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection for all projects of the Dystonia Coalition includes a standardized video of each participant. We now describe our method for collecting, serving and securing these videos that is widely applicable to other studies.
Source: Parkinsonism and Related Disorders - January 19, 2015 Category: Neurology Authors: Ling Yan, Matt Hicks, Korey Winslow, Cynthia Comella, Christy Ludlow, H.A. Jinnah, Ami R. Rosen, Laura Wright, Wendy R. Galpern, Joel S. Perlmutter Source Type: research
