Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics & The NIH Genetic Testing Registry

Video Podcast (CC)Presented by: Office of Rare Diseases Research, the National Eye Institute, National Institute of Mental Health, and the NIH Office of DirectorAired date: 4/4/2013 2:00:00 PM Eastern Time
Source: Videocast Podcasts - Category: Journals (General) Authors: Tags: Health Source Type: video

Related Links:

In conclusion, establishing a preoperative diagnosis is difficult if not impossible. One of the causes of acute surgical abdomen may be BMPM. The malignant transformation of this disease is rare, but the disease recurrence rate is over 50%, and it is often recommended to be monitored through abdominal computed tomography. PMID: 30534842 [PubMed - in process]
Source: Romanian Journal of Morphology and Embryology - Category: General Medicine Tags: Rom J Morphol Embryol Source Type: research
Conclusion.We identified that the pathophysiology of sporadic MTC involve numerous pathways, including the synaptic vesicle pathway, the MAPK signaling pathway, and the ECM remodeling pathway. Furthermore, our study also identified FN1 as novel prognostic biomarkers related to the pathophysiologic changes in sporadic MTC.Implications for Practice.Proteomic dissection and prognostic biomarkers are scarce in sporadic medullary thyroid cancer (MTC). This article reports the use of proteomics technology to comprehensively investigate the molecular mechanisms of sporadic MTC, which resulted in the identification of FN1 as a nov...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Head and Neck Cancers, Cancer Diagnostics and Molecular Pathology, Endocrinology Source Type: research
CONCLUSIONS: We detected benign polymorphisms or genetic variants of unknown importance. It is possible that the Polish population of PAH patients differs from the previously described populations of other countries in terms of the frequency and importance of mutations in BMPR2, ALK1 and ENG genes. PMID: 29350394 [PubMed - indexed for MEDLINE]
Source: Kardiologia Polska - Category: Cardiology Authors: Tags: Kardiol Pol Source Type: research
Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractHereditary angioedema (HAE) with C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare disease characterized by diminished levels or dysfunctional activity of C1-INH, leading to dysregulated plasma kallikrein activity within the kallikrein –kinin pathway. Symptoms manifest as painful, potentially life-threatening swelling of subcutaneous tissues throughout the body and/or submucosal edema in the upper airway or gastrointestinal tract. Attacks recur with unpredictable frequency, intensity, and duration, placing a heavy burden on pati ents’ daily lives. Despite improved availability of medicati...
Source: BioDrugs - Category: Drugs & Pharmacology Source Type: research
(Aarhus University) For the first time ever, biomedical researchers from Aarhus University, Denmark, have unveiled cellular defects that lead to the rare disease hereditary angioedema (HAE), where patients experience recurrent episodes of swelling that requires immediate treatment. This new understanding is an important step towards gene therapy for patients.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
We reported a 61-year-old female with giant primary intradiploic epidermoid cyst in the parietal bone. Surgical resection was performed. The patient recovered well with no complication nor neurologic dysfunction. A literature review of the disease will also be presented here.
. PMID: 30526818 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - Category: Pathology Authors: Tags: Clin Neuropathol Source Type: research
By MIKE STOBBE NEW YORK (AP) — This year has seen a record number of cases of a mysterious paralyzing illness in children, U.S. health officials said Monday.It's still not clear what's causing the kids to lose the ability to move their face, neck, back, arms or legs. The symptoms tend to occur about a week after the children had a fever and respiratory illness.No one has died from the rare disease this year, but it was blamed for one death last year and it may have caused others in the past.What's more, Centers for Disease Control and Prevention officials say many children have lasting paralysis. And close to half th...
Source: JEMS Operations - Category: Emergency Medicine Authors: Tags: Operations News Source Type: news
Pulmonary Arterial Hypertension (PAH) is a chronic rare disease that can lead to serious cardiovascular problems and death. Additional treatments that increase effectiveness, that are safe and with a convenien...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Authors: Riera-Mestre A, Ribas J, Castellote J Abstract Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Telangiectasia in the nasal mucosa cause recurrent epistaxis, the main symptom of HHT and difficult to control. The three types of hepatic shunting, hepatic artery to hepatic vein, hepatic artery to portal vein or to portal vein to hepatic vein, can cause hi...
Source: Medicina Clinica - Category: General Medicine Tags: Med Clin (Barc) Source Type: research
More News: General Medicine | Genetics | Health | Men | National Institutes of Health (NIH) | Podcasts | Rare Diseases | Toxicology