What Neoplasms are Patients with Neurofibromatosis At Risk For?
Discussion
Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases with a probable underestimated incidence of 1:3000. Also called phacomatoses, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses?
The key elements of NF1 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 ma...
Source: PediatricEducation.org - September 23, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news
Gene susceptibility testing in phaeochromocytoma and paraganglioma
Recent studies have suggested that around one-third of individuals with phaeochromocytoma or paraganglioma have an inherited genetic predisposition, prompting some calls for genetic testing in all patients with phaeochromocytoma or paraganglioma. Such a strategy is expensive, and variation between populations is large. Jafri and colleagues analysed data from a 10-year period in the West Midlands PPGL/HNPGL database, finding that clinical risk factors (positive family history, multiple tumours, earlier age at onset) could be used to target genetic testing in a cost-effective manner, though universal testing would be require...
Source: Society for Endocrinology - June 12, 2013 Category: Endocrinology Source Type: news
What Causes Hypercalcemia?
Discussion
Calcium homeostasis is regulated by mechanisms involving the absorption from the gastrointestinal tract, bone deposition and resorption, and renal excretion. To review Vitamin D homeostasis click here.
Serum calcium is found in three forms: free (47%), protein bound (43%) and diffusable calcium complexes (10%). The protein binding proteins are albumin (80%) and globulin (20%). The free calcium is the most important biologically. Acidosis also increases free calcium and alkalosis decreases free calcium.
Problems associated with hypercalcemia include nausea, emesis, abdominal pain, constipation, polyuria, dehydra...
Source: PediatricEducation.org - March 25, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized 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
Level of tumor protein indicates chances cancer will spread
Contact:Robert Bock or Marianne Glass Miller
301-496-5133Level of tumor protein indicates chances cancer will spreadNIH researchers seek to develop test to guide treatmentResearchers at the National Institutes of Health and the University of Hong Kong have discovered that high levels of a particular protein in cancer cells are a reliable indicator that a cancer will spread.By measuring the protein’s genetic material in tumors that had been surgically removed from patients, along with measuring the genetic material from surrounding tissue, the researchers could predict at least 90 percent of the time whether a cancer ...
Source: Kidney Cancer Association - February 2, 2011 Category: Urology & Nephrology Source Type: news
Level of tumor protein indicates chances cancer will spread
Contact:
Robert Bock or Marianne Glass Miller
301-496-5133
Level of tumor protein indicates chances cancer will spread
NIH researchers seek to develop test to guide treatment
Researchers at the National Institutes of Health and the University of Hong Kong have discovered that high levels of a particular protein in cancer cells are a reliable indicator that a cancer will spread.
By measuring the protein’s genetic material in tumors that had been surgically removed from patients, along with measuring the genetic material from surrounding tissue, the researchers could predict at least 90 percent of the time whether a c...
Source: Kidney Cancer Association - February 2, 2011 Category: Urology & Nephrology Source Type: news
Level of tumor protein indicates chances cancer will spread
Contact:Robert Bock or Marianne Glass Miller
301-496-5133Level of tumor protein indicates chances cancer will spreadNIH researchers seek to develop test to guide treatmentResearchers at the National Institutes of Health and the University of Hong Kong have discovered that high levels of a particular protein in cancer cells are a reliable indicator that a cancer will spread.By measuring the protein’s genetic material in tumors that had been surgically removed from patients, along with measuring the genetic material from surrounding tissue, the researchers could predict at least 90 percent of the time whether a cancer ...
Source: Kidney Cancer Association - February 2, 2011 Category: Urology & Nephrology Source Type: news
