What Causes Constipation?
Discussion Constipation generally is defined as infrequent or painful defecation. Constipation can be very disturbing to the patient and family who believe the stools are too infrequent, too hard or too difficult to pass. Most children develop constipation after the child begins to associate pain (e.g. a hard bowel movement) with defecation. The child then begins to withhold the stools trying to decrease the defecation discomfort. As stool withholding continues, the rectum dilates and gradually accommodates with the normal defecation urge disappearing. Passing large hard stools infrequently reinforces the defecation pain. ...
Source: PediatricEducation.org - February 25, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news

Running in your underwear to make a difference
The Cupid's Undie Run has raised over $1.3 million for neurofibromatosis research. Who would have thought that running around in your underwear could do such good? (Source: CNN.com - Health)
Source: CNN.com - Health - February 21, 2013 Category: Consumer Health News Source Type: news

Cupid's Undie Run for research
The Cupid's Undie Run has raised over $1.3 million for neurofibromatosis research. Who would have thought that running around in your underwear could do such good? (Source: CNN.com - Health)
Source: CNN.com - Health - February 21, 2013 Category: Consumer Health News Source Type: news

Living with a rare disease, making a difference
The Cupid's Undie Run has raised over $1.3 million for neurofibromatosis research. Who would have thought that running around in your underwear could do such good? (Source: CNN.com - Health)
Source: CNN.com - Health - February 21, 2013 Category: Consumer Health News Source Type: news

What is the Differential Diagnosis of Multiple Fractures?
Discussion Bone mass, size and strength is at its peak in early adulthood. Multiple factors contribute to bone health including bone mass, hormonal balance, nutrition and weight bearing physical activity. Fractures are basically caused by too much force to be withstood by the bone. Abnormal momentary forces commonly occur in sports injuries such as this patient. When a child or young adult has several fractures, particularly clinically significant fractures, the possibility of an unidentified, underlying cause should be considered. According to the International Society for Clinical Densitometry, clinically significant fr...
Source: PediatricEducation.org - February 18, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news

Researchers Hail Gene Breakthrough In Bid To Prevent Spinal Tumours
Medical researchers have discovered a gene that is responsible for causing an inherited form of tumour known as spinal meningioma. Meningiomas are the commonest form of tumour affecting the brain and spine and are common in people who are affected by the genetic disorder Neurofibromatosis 2 (NF2). NF2 patients are more susceptible to meningiomas because they have inherited a gene with the potential to cause normal cells to become cancerous... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 6, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

How Common Are Skeletal Problems in Neurofibromatosis Patients?
Discussion Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases. Also called phacomatosis, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses? The key elements of NF1 and 2 are: Neurofibromatosis Type 1 Epidemiology: 1:2500-3000 – most common phacomatosis Genetics: autosomal dominant with variable penetrance, associated with chromosome 17 Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a malignant variant or cause other problems such ...
Source: PediatricEducation.org - February 4, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news

Neurofibromatosis Type 1
Molecular and Cellular BiologyNeurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour ... (Source: Springer Biomedical Sciences titles)
Source: Springer Biomedical Sciences titles - January 31, 2013 Category: Biomedical Science Tags: Human Genetics Source Type: news

Potential Non-Surgical Therapy For Neurofibromatosis Type 2 Brain Tumors
One in 25,000 people worldwide is affected by neurofibromatosis type 2 (NF2), a condition where the loss of a tumour suppressor called Merlin results in multiple tumours in the brain and nervous system. Sufferers may experience 20 to 30 tumours at any one time and such numbers often lead to hearing loss, disability and eventually death. Currently, the only available effective therapies are repeated invasive surgery or radiotherapy aimed at one tumour at a time and which are unlikely to eradicate all the tumours in one go... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - January 15, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

In Tumor Disorder There Are Many Causes For Learning Lags
The causes of learning problems associated with an inherited brain tumor disorder are much more complex than scientists had anticipated, researchers at Washington University School of Medicine in St. Louis report. The disorder, neurofibromatosis 1 (NF1), is among the most common inherited pediatric brain cancer syndromes. Children born with NF1 can develop low-grade brain tumors, but their most common problems are learning and attention difficulties... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - January 3, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Molecular Diagnosis of Genodermatoses
The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1. (Source: Springer protocols feed by Molecular Medicine)
Source: Springer protocols feed by Molecular Medicine - December 19, 2012 Category: Molecular Biology Source Type: news

Neurology: Images in Clinical Medicine
Editor: V. Dimov, M.D., Cleveland ClinicHypoglossal Nerve Palsy during Meningococcal Meningitis. NEJM, 10/2014.Absent Superficial Abdominal Reflex due to thoracic spinal cord neuromyelitis. NEJM, 05/2014.Kayser-Fleischer Rings in Wilson ' s Disease. NEJM, 03/2012.Perilymph Fistula Test leads to nystagmus. NEJM, 01/2012.A stray bullet in the brain - with no deficit of power, cognition, sense of touch, or speech. Lancet, 01/2012.Blindness after Fat Injections. NEJM, 12/2011.Internal-Carotid-Artery Dissection and Cranial-Nerve Palsies. NEJM, 12/2011.A Head Shot. NEJM, 12/2011.Multiple Intracranial Tuberculomas. NEJM, 10/2011....
Source: Clinical Cases and Images - August 22, 2009 Category: General Medicine Tags: Images Neurology Source Type: news