Man with rare 'Elephant Man' disease gets six pounds of fleshy tumors surgically removed
Enrique Galvan, 27, from Asuncion, Paraguay, was born with a rare, genetic disease known as neurofibromatosis, which causes large, benign tumors to grow on nerve tissue. (Source: the Mail online | Health)
Source: the Mail online | Health - June 11, 2019 Category: Consumer Health News Source Type: news
Nerve fibers in skin involved in initiating neurofibromas in patients with disfiguring NF1
(Children's Tumor Foundation) A study published today in PLOS ONE discovered the origin of severely disfiguring masses of cells, called neurofibromas, that gradually develop throughout the skin of patients afflicted with Neurofibromatosis 1 (NF1). The discovery consisted of micro-lesions that contained small pathological clusters of nerve fibers and associated Schwann cells that proliferate to form the bulk of the disfiguring neurofibromas. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 21, 2019 Category: International Medicine & Public Health Source Type: news
What Causes Macrocephaly?
Discussion
“Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of > 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC > 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion.
There are ethnic differences...
Source: PediatricEducation.org - May 20, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
The husband and wife with THOUSANDS of tumours between them
Gail Appelgre, 58, and her other half Tim Golumbia, 55, of Edmonton in Alberta, Canada, have neurofibromatosis, which causes painful masses to grow along their nerve tissue. (Source: the Mail online | Health)
Source: the Mail online | Health - May 10, 2019 Category: Consumer Health News Source Type: news
AAP Updates Guidance for Care in Neurofibromatosis Type 1
WEDNESDAY, April 24, 2019 -- Guidance has been updated for the health supervision of children with neurofibromatosis type 1 (NF1), according to a clinical report from the American Academy of Pediatrics published online April 22 in Pediatrics.
David... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - April 24, 2019 Category: Pharmaceuticals Source Type: news
Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins
Neurofibromatosis type 2 is an inherited, neoplastic disease associated with schwannomas, meningiomas, and ependymomas and that is caused by inactivation of the tumor suppressor gene NF2. The NF2 gene product, Merlin, has no intrinsic catalytic activity; its tumor suppressor function is mediated through the proteins with which it interacts. We used proximity biotinylation followed by mass spectrometry and direct binding assays to identify proteins that associated with wild-type and various mutant forms of Merlin in immortalized Schwann cells. We defined a set of 52 proteins in close proximity to wild-type Merlin. Most of t...
Source: Signal Transduction Knowledge Environment - April 22, 2019 Category: Science Authors: Hennigan, R. F., Fletcher, J. S., Guard, S., Ratner, N. Tags: STKE Research Resources Source Type: news
Adam Pearson neurofibromatosis: What is the genetic disorder? Signs and symptoms revealed
ADAM PEARSON is appearing on BBC ’s Pointless this afternoon, as the British actor joins hosts Alexander Armstrong and Richard Osman. Pearson has the genetic disorder neurofibromatosis, but what is it, and what are the signs and symptoms? (Source: Daily Express - Health)
Source: Daily Express - Health - April 21, 2019 Category: Consumer Health News Source Type: news
Selumetinib granted US Breakthrough Therapy Designation in neurofibromatosis type 1
AstraZeneca and MSD, Inc., Kenilworth, NJ, US (MSD: known as Merck & Co., Inc. inside the US and Canada) today announced that the US Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) for the MEK 1/2 inhibitor and potential new medicine selumetinib. (Source: World Pharma News)
Source: World Pharma News - April 2, 2019 Category: Pharmaceuticals Tags: Featured AstraZeneca Business and Industry Source Type: news
Woman whose life is being ‘consumed’ by her giant leg a
Karina Rodini, from Sao Paolo, Brazil, has type one neurofibromatosis. Doctors haven't managed to get the condition under control, and her tumours now weigh 40kg (88.8lbs). (Source: the Mail online | Health)
Source: the Mail online | Health - March 29, 2019 Category: Consumer Health News Source Type: news
Woman, 40, has 'heavy' tumour engulfing her face that is inoperable
Aline Cerqueria Leite, from Brazil, has undergone 14 surgeries for neurofibromatosis, an incurable condition. But now, the risks are too high as the tumour has spread to her eyes, jaw and nose. (Source: the Mail online | Health)
Source: the Mail online | Health - March 14, 2019 Category: Consumer Health News Source Type: news
Woman, 28, has huge uncontrollable tumours on her legs and hips
Karina Rodini, from Sao Paolo, Brazil, has type one neurofibromatosis, a condition which makes non-cancerous tumours grow along someone's nerves and cannot be cured. (Source: the Mail online | Health)
Source: the Mail online | Health - January 31, 2019 Category: Consumer Health News Source Type: news
Mice sleeping fitfully provide clues to insomnia
(Washington University School of Medicine) Researchers at Washington University School of Medicine in St. Louis -- working with mice with sleep problems similar to those experienced by people with the genetic disease neurofibromatosis type 1 (NF1) -- believe the animals will help shed light on insomnia linked to NF1 or other factors. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 9, 2019 Category: International Medicine & Public Health Source Type: news
$12 million coming to UAB for research into genetic disorder
Four researchers at the UAB School of Medicine will put a deep focus on a genetic disorder over the next three years.
The Gilbert Family Foundation will allocate $12 million over the next three years to UAB researchers exploring developmental and possibly curative therapies to address the underlying genetic abnormalities of neurofibromatosis type 1 (NF1), a multisystem genetic disorder.
The incoming funding is part of the Gilbert Family Foundation’s Gene Therapy Initiative. The goal of the… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - January 1, 2019 Category: Biotechnology Authors: Tyler Patchen Source Type: news
$12 million coming to UAB for research into genetic disorder
Four researchers at the UAB School of Medicine will put a deep focus on a genetic disorder over the next three years.
The Gilbert Family Foundation will allocate $12 million over the next three years to UAB researchers exploring developmental and possibly curative therapies to address the underlying genetic abnormalities of neurofibromatosis type 1 (NF1), a multisystem genetic disorder.
The incoming funding is part of the Gilbert Family Foundation’s Gene Therapy Initiative. The goal of the… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - January 1, 2019 Category: Pharmaceuticals Authors: Tyler Patchen Source Type: news
