Category Archives: associations

EUROPEAN GROUP OF LESCH NYHAN SYNDROME FAMILIES

0 in Mon, 27 January 2014, 10:52
Lesch-Nyhan syndrome (LNS) is a serious genetic disorder characterized by hyperuricemia, dystonia, spasticity, choreoathetosis, speech impediments, kidney problems, varying degrees of cognitive impairment and, in particular, on the drive to self-harm that uncontrollable by the characteristic behavior is defined properly as Lesch-Nyhan syndrome. The disease originates by the absence or the low activity of the enzyme hypoxanthine-guanine-phosphoribosyl-transferase (HPRT), which normally Continue Reading...
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“Mauro Baschirotto” Foundation for Rare Diseases

0 in Mon, 27 January 2014, 10:52
The “Mauro Baschirotto” Foundation for Rare Diseases and the “Mauro Baschirotto” Association for Rare Diseases has founded the B.I.R.D. Institute which operates in the national healthcare system. The B.I.R.D. Institute is recognized by the Regione Veneto with DGR n . 149 of 03.08.1999 and it is validated by D.G.R. n . 769 of 12.07.2002 as a rehabilitation outpatient center for the Diagnosis, Continue Reading...
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“Mauro Baschirotto” Association for Rare Diseases

0 in Mon, 27 January 2014, 10:51
The “Mauro Baschirotto” Foundation for Rare Diseases and the “Mauro Baschirotto” Association for Rare Diseases has founded the BIRD Institute which operates in the healthcare system. The institute is recognized by the Regione Veneto with DGR n . 149 of 03.08.1999 and it is validated by D.G.R. n . 769 of 12.07.2002 as a rehabilitation outpatient center for the Diagnosis, Treatment and Care of Continue Reading...
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Lymphangioleiomyomatosis volunteers’ group

0 in 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 in 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 in 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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