Leber's hereditary optic neuropathy - Biotech, Pharma and Life Science Channel
PubMed Articles
Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
Sensitivity of gastric cancer (GC) to conventional cytotoxic therapy may be at least in part attributed to molecular features of the tumor cells. We analyzed all patients with metastatic GC treated in...
Ethical, Legal, and Counseling Challenges Surrounding the Return of Genetic Results in Oncology.
In the last decade, an overwhelming number of genetic aberrations have been discovered and linked to the development of treatment for cancer. With the rapid advancement of next-generation sequencing (...
Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia.
A 62-year-old woman presented with severe, isolated thrombocytopenia. Due to the positive family history and normal thrombocyte morphology ANKRD26-associated thrombocytopenia 2 (THC2) was suspected. T...
Precancerous colorectal tumors.
Preneoplastic lesions of colorectal carcinoma can be divided in non-serrated and serrated lesions. Non-serrated lesions include conventional adenomas (tubular, tubulovillous and villous) and dysplasia...
Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family.
INTRODUCTION. Chorea due to a mutation in the TITF1 gene, which is also known as benign hereditary chorea, is an autosomal dominant disorder that usually begins before the age of 5 years. In most case...
Serrated adenoma of the stomach: Case report and literature review.
Gastric serrated adenomas are histologically characterized by protruding glands with lateral saw tooth-like indentations lined with stratified dysplastic cells containing abundant eosinophilic cytopla...
Painful and Painless Diabetic Neuropathy: One Disease or Two?
Painful diabetic polyneuropathy (PDPN) is generally considered a variant of diabetic polyneuropathy (DPN) but the identification of distinctive aspects that characterize painful compared with painless...
An increased prevalence of female sexual dysfunction (FSD) has been reported in women with diabetes mellitus (DM). Our aim was to evaluate correlates (psychological, cardiovascular, and neurophysiolog...
Current and Future Treatments for Malignant Pheochromocytoma and Sympathetic Paraganglioma.
Pheochromocytomas (PHs) and sympathetic paragangliomas (SPGs) are rare neuroendocrine tumors. Approximately 17 % of these tumors are malignant, but because no molecular or histologic markers for mali...
News Articles
Doctors Health Press, a division of Lombardi Publishing Corporation and publisher of various natural health newsletters, books, and reports, including the popular online Doctors Health Press e-Bulleti...
Peripheral Neuropathy Naturally Treatable Through Neuracel's Ultimate Neuropathy Support System
Boise, Idaho (PRWEB) May 19, 2013 A leading symptom of peripheral neuropathy, the problem of restless feet, may be put to an end through natural ways, such as Neuracelâs Ultimate Support Syste...
Boise, Idaho (PRWEB) May 19, 2013 The muscles in the human body are dependent on various nerves for their functionality and one of the biggest and most significant nervous systems in the body is th...
EU Regulators Recommend Withdrawing Almitrine
The benefits of almitrine in managing COPD no longer outweigh the risks of marked weight gain and peripheral neuropathy, given alternative treatments, a committee of the European Medicines Agency said...
Early screenings key to diagnosing glaucoma
New research is emphasizing the importance of regular screenings for glaucoma, a disease that deteriorates the optic nerve over time and is a leading cause of irreversible blindness worldwide. The ons...
Eisai Highlights New Research On Melanoma, Breast and Endometrial Cancer at ASCO Annual Meeting
WOODCLIFF LAKE, N.J., May 16, 2013 /PRNewswire/ -- Eisai Inc. announced today that nine abstracts highlighting new study results in melanoma, breast and endometrial cancer will be presented dur...
New program acknowledges critical role of support for patients with rare and potentially life-threatening disease To mark the second annual Hereditary Angioedema (HAE) Day, Dy...
Neuracel Hits the Market - Aims To Provide A Natural Remedy For Diabetic Peripheral Neuropathy
Boise, ID (PRWEB) May 16, 2013 A disorder of the nerves, Diabetic Peripheral Neuropathy is a disease that has an adverse affect on the health of millions of people worldwide. In fact, according to...
Neuropathy Diagnosis Obstacles Damaging to Patients' Health
For National Neuropathy Awareness Week (May 13-17), The Neuropathy Association and the Hereditary Neuropathy Foundation Call Attention to the Diagnostic Challenges Hurting Millions of Neuropathy Patie...
Pharming reports on financial results first quarter 2013
Leiden, The Netherlands, 16 May 2013. Biotech company Pharming Group NV ("Pharming" or "the Company") (NYSE Euronext: PHARM) today published its financial report for the three m...
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Companies
Integra Telecom Inc. provides integrated communications services across 33 metropolitan areas in 11 Western states, including: Arizona, California, Colorado, Idaho, Minnesota, Mon...
Alaska Communications Systems Group, Inc.
Headquartered in Anchorage, Alaska Communications Systems Group, Inc. (âACSâ) (NASDAQ:ALSK), through its subsidiaries, provides Alaska Communications services and is Ala...
Pamlab, L.L.C., founded in 1957, is a fully integrated pharmaceutical company specializing in medical foods indicated for specific disease states including diabetic neuropathy, de...
Pamlab, L.L.C., founded in 1957, is a fully integrated pharmaceutical company specializing in medical foods indicated for the nutritional support of specific disease states includ...
Pamlab, L.L.C., founded in 1957, is a fully integrated pharmaceutical company specializing in medical foods indicated for the nutritional support of specific disease states includ...
DigitalOptics Corporation, a wholly owned subsidiary of Tessera Technologies, Inc. (NASDAQ: TSRA), delivers innovation in imaging and optics with products and capabilities that en...
RST Global Communications, LLC
Based in Shelby, North Carolina, RST Global Communications, LLC (RST), www.rstfiber.com, is a member-owned company formed in 2009 to construct and manage state-of-the-art all fibe...
AGTC is focused on the research and development of novel therapeutics for patients with unmet medical needs utilizing AGTCâs proprietary, non-pathogenic adeno-associat...
Dyax is a fully integrated biopharmaceutical company focused on discovering, developing and commercializing novel biotherapeutics for unmet medical needs. Dyax utilizes its propri...
Tomophase Corporation is a privately held opto-medical device company with a proprietary position in real-time, high resolution, cross sectional tissue imaging using a variant of...
Clinical Trials
Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
This study will evaluate patients with Hereditary Inclusion Body Myopathy (HIBM) and examine the effects of immune globulin (IG) treatment on muscle and muscle function. HIBM is a progress...
Pilot Study of Mycophenolate Mofetil in Congenital Uropathies
Congenital or hereditary structural anomalies of the genitourinary tract account for approximately half of all cases of end stage renal disease in the pediatric population. Despite optimal...
Characterizing and Diagnosis’s of the Charcot Foot (Charcot Osteoarthropathy) in Diabetic Patients
The condition Charcot foot has been known in more than 130 years, and yet there still remains a large effort to find the cause, diagnostic and medical treatment of the condition. Charcot...
To address the following issues: (1) the course of small nerve fiber degeneration in type 2 diabetic patients, especially in asymptomatic patients; (2) the influence of blood sugar control...
Ocular Blood Flow in Early Glaucoma Patients Before and After Treatment With Dorzolamide
Impaired ocular blood flow is an important risk factor in the pathogenesis of primary open angle glaucoma (POAG). A few studies suggest that topical dorzolamide 2% may increase optic nerve...
EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis
This is a multi-centre randomised phase III, double blind, placebo controlled, parallel group, outpatient study in patients diagnosed with hereditary pancreatitis and idiopathic chronic pa...
Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia
Hypotheses: 1. The prevalence of endocrinopathies, and growth hormone (GH) deficiency in particular, among young children diagnosed with optic nerve hypoplasia (ONH) is higher than...
This phase 3 trial is being conducted at approximately 80 sites in the United States (U.S.) to investigate whether lacosamide (SPM 927) at different doses reduces pain in subjects with dia...
C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema
A multicentre study to investigate the pharmacokinetics, clinical efficacy and safety of nanofiltered Cetor® (called C1-esteraseremmer-N during the development phase) for the treatment of...
C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema
A multicentre study to investigate the pharmacokinetics, clinical efficacy and safety of nanofiltered Cetor® (called C1-esteraseremmer-N during the development phase) for the treatment of...
Videos
LHON Stem Cell Patients Michelle and Nicholas
Michell and Nicholas both have Leber's Hereditary Optic Neuropathy (LHON). They received transplants of non-embryonic umbilical cord blood stem cells to trea...
Medical and Biotech [MESH] Definitions
Muscular Dystrophy, Oculopharyngeal
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Genetic Processes
Those biological processes that are involved in the transmission of hereditary traits from one organism to another.
Mineralocorticoid Excess Syndrome, Apparent
A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
Coproporphyria, Hereditary
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Complement C1 Inhibitor Protein
An endogenous 105-kDa plasma glycoprotein produced primarily by the LIVER and MONOCYTES. It inhibits a broad spectrum of proteases, including the COMPLEMENT C1R and the COMPLEMENT C1S proteases of the CLASSICAL COMPLEMENT PATHWAY, and the MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES. C1-INH-deficient individuals suffer from HEREDITARY ANGIOEDEMA TYPES I AND II.
