About: Associazione Malattie Rare "Mauro Baschirotto"

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Lymphangioleiomyomatosis volunteers’ group

0 Submitted by on Mon, 27 January 2014, 10:50
Lymphangioleiomyomatosis (LAM ) is a rare disease characterized by morphofunctional alterations and caused by the proliferation of immature smooth muscle cells within different organs. Lungs or other extra-thoracic organs such as kidney, liver, and intestine, may be involved. The Lymphangioleiomyomatosis affects women, especially in childbearing age. It represents about 1 % of the interstitial pulmonary diseases. The most affected age group is Continue Reading...
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DESMON – Italian Association Desmoid-type Fibromatosis

0 Submitted by on Mon, 27 January 2014, 10:49
Desmoid-type Fibromatosis is a fibrous tumour; the causes of this disease are not known in depth so there are many uncertainties about treatment to follow. Paola writes in her book: “In 2004, the National Cancer Institute of Milan proposed some new therapies which unfortunately did not gave benefit to me. One thing I’ve learned over the years is that you have Continue Reading...
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AFIM – Italian Families Malignant Hyperthermia

0 Submitted by on Mon, 27 January 2014, 10:49
The malignant hyperthermia (MH) is a pharmacogenetic disease of skeletal muscles, which is characterized by a hypermetabolic response to strong volatile anesthetic gases. The signs of MH include marked hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increase oxygen consumption, acidosis, muscle rigidity and rhabdomyolysis. This syndrome is inherited in an autosomal dominant fashion involving RYR-1 gene. Over 90 mutations have been identified in Continue Reading...
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Tuberous Sclerosis Volunteers’ group

0 Submitted by on Mon, 27 January 2014, 10:48
Tuberous Sclerosis is an hereditary autosomal dominant disease with a prevalence of 1/10.000 born. The TSC is due to a defect in TSC2 gene (Tuberous Sclerosis Complex 2, located in p13.3 region of the chromosome 16) or in TSC1 gene (Tuberous Sclerosis Complex 1, located in q34 region of the chromosome 9). These genes are tumor suppressor genes and they encode respectively the Tuberin and Continue Reading...
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Prader Willi

0 Submitted by on Sun, 01 December 2013, 14:20
In 2013 it was concluded the 48th cycle of rehabilitation for adults with Prader-Willi. The services that the Institute offers for the Prader-Willi syndrome are: Specialistic medical evaluation (neurologist, endocrinologist, geneticist, internist, physiatrist, radiologist, psychologist, neuropsychomotor therapist, physical therapist …).  Genetic diagnosis  Biomolecular and cellular research Daily rehabilitative Cycles and overnights for 4 times a year for about 1 month.  Continue Reading...
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