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 f...
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 23, 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

Synodos does it again: Breaking barriers to solve the 'impossible' problems
(Children's Tumor Foundation) Treatment for low-grade gliomas in patients living with neurofibromatosis type 1 are now one step closer thanks to recent research discoveries initiated and funded by the Children's Tumor Foundation. The Foundation's SYNODOS consortium has just recently been published in Nature Medicine, showing that immunotherapy has the potential to impact gliomas. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - December 27, 2018 Category: Cancer & Oncology Source Type: news

What Causes Hyperpigmentation?
Discussion Skin color is primarily due to genetic factors. Melanocytes are usually found in skin in the basal layer of the epidermis which is also where the melanin usually lies. There are a range of normal skin phenotypes that have been described by Fitzpatrick and range from I-VI: I – pale white skin, blond hair, blue eyed, does not tan, always burns II – fair skin, blue eyed, tans poorly, burns easily III – darker white skin, burns initially then tans IV – light brown skin, tans easily, burns minimally V – brown skin, tans darkly easily, burns rarely VI – dark brown skin, alway...
Source: PediatricEducation.org - December 17, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Open science and data initiative announced for neurofibromatosis
(Children's Tumor Foundation) The Children's Tumor Foundation, together with the Neurofibromatosis Therapeutic Acceleration Program and Sage Bionetworks, has announced the first-ever open data portal for scientific research results in the field of neurofibromatosis (NF). The NF Data Portal marks the major first milestone in all three organizations' commitment to the development of the larger NF Open Science Initiative (NF-OSI), which draws experts from across research disciplines and disease areas in order to develop treatments for NF. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 14, 2018 Category: International Medicine & Public Health Source Type: news

Some brain tumors may respond to immunotherapy, new study suggests
(Columbia University Irving Medical Center) A new study suggests that a slow-growing brain tumor arising in patients affected by neurofibromatosis type 1 (NF1) may be vulnerable to immunotherapy, which gives the immune system a boost in fighting cancer. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 10, 2018 Category: International Medicine & Public Health Source Type: news

Mother who is covered in tumours has accepted her looks after her son was born with the disorder
Vanessa Cornelio, 25, from Glendale, Arizona, was born with neurofibromatosis, which causes tumours to grow on nerve tissue. Her two-year-old son Daniel Jr. inherited the condition. (Source: the Mail online | Health)
Source: the Mail online | Health - November 6, 2018 Category: Consumer Health News Source Type: news

Pakistani man covered in hundreds of bubble-like tumours
Ameer Ali, from Sehwan Sharif in Pakistan's Sindh province, has had small tumours on his abdomen and back since his childhood. Doctors believe he has a severe case of neurofibromatosis. (Source: the Mail online | Health)
Source: the Mail online | Health - October 8, 2018 Category: Consumer Health News Source Type: news

Pakistani man, 32, covered in hundreds of bubble-like tumours
Ameer Ali, from Sehwan Sharif in Pakistan's Sindh province, has had small tumours on his abdomen and back since his childhood. Doctors believe he has a severe case of neurofibromatosis. (Source: the Mail online | Health)
Source: the Mail online | Health - October 8, 2018 Category: Consumer Health News Source Type: news

Social worker who is covered from head to toe in tiny tumours has been refused into swimming pools
Gail Appelgren, 57, from Edmonton in Alberta, Canada, has battled with neurofibromatosis her whole life, which she believes makes her 'special' despite cruel comments from strangers. (Source: the Mail online | Health)
Source: the Mail online | Health - September 6, 2018 Category: Consumer Health News Source Type: news

Social worker who is covered from head to toe in tiny tumours has been refused into swimming pools
Gail Applegren, 57, from Edmonton in Alberta, Canada, has battled with neurofibromatosis her whole life, which she believes makes her 'special' despite cruel comments from strangers. (Source: the Mail online | Health)
Source: the Mail online | Health - September 5, 2018 Category: Consumer Health News Source Type: news

Screening for Neuroendocrine Tumors Is Recommended for NF1 Patients
A study on pheochromocytoma and paraganglioma associated with neurofibromatosis type 1 highlights how screening for these malignancies is important. (Source: CancerNetwork)
Source: CancerNetwork - August 28, 2018 Category: Cancer & Oncology Authors: Dave Levitan Source Type: news

Selumetinib granted orphan designation in Europe for neurofibromatosis type 1
AstraZeneca and Merck & Co., Inc., Kenilworth, NJ, US (known as MSD outside the US and Canada) announced that the European Medicines Agency (EMA) has granted orphan designation to selumetinib, a MEK 1/2 inhibitor, for the treatment of neurofibromatosis type 1 (NF1). (Source: World Pharma News)
Source: World Pharma News - August 9, 2018 Category: Pharmaceuticals Tags: Featured AstraZeneca Business and Industry Source Type: news

Indian teen is unable to walk due to her 'defunct' claw-like fist
Mita Sabar, 18, from a remote village in Odisha, east India, is thought to be suffering from plexiform neurofibromatosis, which means her hand is so heavy she is unable to lift it. (Source: the Mail online | Health)
Source: the Mail online | Health - August 8, 2018 Category: Consumer Health News Source Type: news

The teenager with a 22lb hand: 18-year-old is unable to walk due to her 'defunct', claw-like fist  
Mita Sabar, 18, from a remote village in Odisha, east India, is thought to be suffering from plexiform neurofibromatosis, which means her hand is so heavy she is unable to lift it. (Source: the Mail online | Health)
Source: the Mail online | Health - August 8, 2018 Category: Consumer Health News Source Type: news

Children's Tumor Foundation Drug Discovery Awards announced
(Children's Tumor Foundation) The Children's Tumor Foundation (CTF), the largest non-governmental funder of neurofibromatosis (NF) research, and PLOS ONE, a leading peer-reviewed scientific journal, are pleased to announce the successful completion of the first funding cycle of the Drug Discovery Initiative Registered Report (DDIRR) 2017 Awards, a funder-publisher partnership integrating the Registered Reports model into the grant application process. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 11, 2018 Category: International Medicine & Public Health Source Type: news

Indian grandfather's tumours left him unable to eat, talk or speak
Subhash Chand, 54, from Uttar Pradesh state in India, suffers from a condition known as Neurofibromatosis or Von Recklinghausen's Disease. He developed the disorder at just 20 years old. (Source: the Mail online | Health)
Source: the Mail online | Health - May 15, 2018 Category: Consumer Health News Source Type: news

Grandfather's, 54, agonising tumours has left him unable to eat, talk or speak  
Subhash Chand, 54, from Uttar Pradesh state in India, suffers from a condition known as Neurofibromatosis or Von Recklinghausen's Disease. He developed the disorder at just 20 years old. (Source: the Mail online | Health)
Source: the Mail online | Health - May 15, 2018 Category: Consumer Health News Source Type: news

Teen whose facial tumour has left her blind has become a recluse
The growth has left Salibunnisa, 18, from the north Indian state of Madhya Pradesh, lind in one eye, as well as in excruciating pain every day. She suffers from neurofibromatosis. (Source: the Mail online | Health)
Source: the Mail online | Health - May 15, 2018 Category: Consumer Health News Source Type: news

Man's second face transplant is a world first
A man in Paris with a genetic disorder called neurofibromatosis has become the world's first to successfully receive two facial transplants. He is now debuting his third face. (Source: CNN.com - Health)
Source: CNN.com - Health - April 17, 2018 Category: Consumer Health News Source Type: news

Pakistani man has an enormous tumour that covers half of his face
Ghulam Hyder, from Nawabshah in Pakistan's Sindh province, has neurofibromatosis - the umbrella term for a group of genetic conditions that cause lumps to grow along nerves. (Source: the Mail online | Health)
Source: the Mail online | Health - April 11, 2018 Category: Consumer Health News Source Type: news

Mother-of-two suffers from neurofibromatosis, tumours on her face
Charmaine Sahadeo, 38, from Chaguanas, Trinidad, has three giant growths swamping her right leg, making it nearly impossible to stand or walk. She blames her appearance for her marriage breakdown. (Source: the Mail online | Health)
Source: the Mail online | Health - March 29, 2018 Category: Consumer Health News Source Type: news

Pakistani teenager left bedridden by 44lbs tumour
Muhammad Essa Pallari, from Karachi, suffers from plexiform neurofibromatosis, a genetic disorder that affects the normal growth and development of cell tissue. (Source: the Mail online | Health)
Source: the Mail online | Health - March 26, 2018 Category: Consumer Health News Source Type: news

Plymouth researcher secures funding to further investigate treatment for neuro-tumors
(University of Plymouth) Dr Sylwia Ammoun from Plymouth University Peninsula Schools of Medicine and Dentistry has secured £ 112,071 from Great Ormond Street Hospital Children's Charity and Sparks, the medical research charity, to research further into hereditary condition Neurofibromatosis 2 (NF2). Her work could offer hope to the thousands of, mainly young, people affected by NF2 - characterised by the development of multiple tumors of the nervous system. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 5, 2018 Category: International Medicine & Public Health Source Type: news

A cluster of mutations in neurofibromatosis is important risk factor for severe symptoms
(University of Alabama at Birmingham) Research led by Ludwine Messiaen shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1. Such information is vital to help guide clinical management and genetic counseling in this complex disease, and it shows a potential need for increased disease surveillance of patients with missense mutations in that cluster -- specifically, codons 844 to 848. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - December 28, 2017 Category: Cancer & Oncology Source Type: news

How Do You Perform the Adams Forward Bend Test?
Discussion Scoliosis is a lateral and rotational curvature of the spine from a plumb line hanging from C7 to the floor. Idiopathic scoliosis is the most common form. A review of scoliosis and its differential diagnosis can be found here. Depending on the age, 2-4% of adolescents have a positive Adams Forward Bend Test when assessed and ~2% may have idiopathic scoliosis of> 10 degrees. Curve progression relates to the magnitude of the curve and the patient’s age. Thus increased risk of progression occurs in patients with higher curvature magnitude at diagnosis, females (earlier start of puberty and therefore poss...
Source: PediatricEducation.org - December 4, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Mother covered in thousands of bubble-like tumours
Sandra De Santos, 53, from Brazil, has had lumps growing on face and body since she was a teen. She has neurofibromatosis type-1, which was passed on to her son who died aged 6. (Source: the Mail online | Health)
Source: the Mail online | Health - November 2, 2017 Category: Consumer Health News Source Type: news

Reclusive teen with giant facial tumours has no friends
Rubi Dulari has neurofibromatosis which causes tumours to grow along nerves. The young woman, from northern India, was constantly bullied at school over her looks. (Source: the Mail online | Health)
Source: the Mail online | Health - September 29, 2017 Category: Consumer Health News Source Type: news

The Children's Tumor Foundation and PLOS ONE are pleased to announce partnership
(PLOS) The Children's Tumor Foundation (CTF) and PLOS ONE are collaborating on a new funding program in the area of neurofibromatosis (NF) research. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - September 26, 2017 Category: Cancer & Oncology Source Type: news

Mother and her daughters suffer from excruciating tumours
Sharon Phillips, 44, from Tredegar, along with her daughters Chelsea, 23, Courtenay, 17, and Tyanna, 14, suffer from neurofibromatosis type 1, which leaves them in excruciating pain. (Source: the Mail online | Health)
Source: the Mail online | Health - September 11, 2017 Category: Consumer Health News Source Type: news

Chester boy aged 2 trials breakthrough chemotherapy drug  
Felicity Dawe, from Chester, was diagnosed with neurofibromatosis type one when she was just three months old. She is now trialing a drug at Great Ormond Street Hospital. (Source: the Mail online | Health)
Source: the Mail online | Health - July 28, 2017 Category: Consumer Health News Source Type: news

Pakistani man, 56, with hundreds of bubble-like tumours
Habib Ullah Khan, 56, from Karachi, has had his body ravaged by the small lumps - believed to be a form of neurofibromatosis. He said: 'People have ridiculed me throughout my life.' (Source: the Mail online | Health)
Source: the Mail online | Health - July 26, 2017 Category: Consumer Health News Source Type: news

New research offers hope to neuro-tumor patients
(University of Plymouth) New research published today, July 10, 2017, online in the journal Oncogene could offer hope to the thousands of, mainly young, people affected by the hereditary condition Neurofibromatosis 2 (NF2). In addition to NF2 disease there could be potential benefit for other cancers with the same mutations. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 9, 2017 Category: International Medicine & Public Health Source Type: news

Neurofibromatosis type 1 sufferer has hundreds of tumours
Every day Noreen Steenson from Belfast, Northern Ireland, wakes up to a new lump, caused by rare and incurable neurofibromatosis (NF) type 1. She has been left housebound. (Source: the Mail online | Health)
Source: the Mail online | Health - June 21, 2017 Category: Consumer Health News Source Type: news

4 questions parents have about moyamoya disease
Last month, families from across the country gathered at Boston Children’s Hospital to celebrate World Moyamoya Day. The expert speakers at the Moyamoya Family Day Symposium shared the latest information about this rare but very serious condition with parents and patients alike. Moyamoya disease occurs when the walls of the internal carotid arteries — the vessels that supply blood to important areas of the brain — become thickened and narrowed. As a result, blood flow to the brain slows, making blood clots more likely. Kids with moyamoya disease are at significantly higher risk of having a stroke, as well...
Source: Thrive, Children's Hospital Boston - June 13, 2017 Category: Pediatrics Authors: Jessica Cerretani Tags: Ask the Expert Diseases & Conditions Dr. Edward Smith moyamoya Moyamoya Disease Program Source Type: news

Scripps Florida scientist wins $2 million grant to study childhood disorder
(Scripps Research Institute) Assistant Professor Seth Tomchik of the Florida campus of The Scripps Research Institute (TSRI) has received $2 million in funding from the National Institutes of Health's National Institute of Neurological Disorders and Stroke (NINDS). The new five-year grant funding will support the study of neurofibromatosis type I, an inherited disorder that results from genetic mutations affecting a protein called neurofibromin (Nf1). (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 31, 2017 Category: International Medicine & Public Health Source Type: news

Evidence behind reports of new baldness cure is a little thin
Conclusion The current study identified a group of cells in the hair follicles of mice which are important both in forming the hair shaft to allow hair growth, and also in maintaining hair colour. So far this research has been in mice, but the basic biology of cells in mammals is very similar, so it seems likely that the findings would also apply to humans. Researchers are also likely to want to perform tests on human cells in the laboratory to confirm their findings. The findings represent an advance in what is known about how hair grows and maintains its colour. However, this doesn't automatically mean the researchers ar...
Source: NHS News Feed - May 8, 2017 Category: Consumer Health News Tags: Genetics/stem cells Older people Source Type: news

Boy, 8, whose face has been distorted by giant tumours
Amare Stover, from Decatur, Alabama, was born with neurofibromatosis type one - a genetic disorder that causes tumors to develop all over his body. (Source: the Mail online | Health)
Source: the Mail online | Health - May 1, 2017 Category: Consumer Health News Source Type: news

8-Year-Old Writes Letter Requesting A Park Swing For Brother With Disabilities
After visiting a new local park, 8-year-old Naomi Gwynne had an important request for the “park builders.” She wanted them to include a swing for her brother with disabilities and other kids like him. Naomi’s mother, Miriam Gwynne, told The Huffington Post that she recently took Naomi and her twin brother, Isaac, to a new park near their home in Scotland. Naomi and Isaac both have autism. Isaac is nonverbal and has neurofibromatosis type 1 and learning difficulties. He is also vision-impaired. During their visit to the park, Naomi noticed there were no swings designed with kids like her brother in mind, s...
Source: Healthy Living - The Huffington Post - March 22, 2017 Category: Consumer Health News Source Type: news