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Family Practice Notebook Updates 2016

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2641. familial amaurotic idiocy

familial amaurotic idiocy familial amaurotic idiocy - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial amaurotic idiocy Tay-Sachs disease is a condition caused by an inborn error of metabolism where there is a deficiency in the enzyme hexosaminidase A, which splits the terminal N- acetylgalactosamine residue from GM2 ganglioside. The disease is particularly common in the Ashkenazi Jewish population, where it has (...) an incidence of 1 in 3 - 4000 births. It is a hundred times less frequent in other racial groups. Inheritance is autosomal recessive with the disrupted locus on chromosome 15. Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution

2010 GP Notebook

2642. hypoparathyroidism (familial)

hypoparathyroidism (familial) hypoparathyroidism (familial) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search hypoparathyroidism (familial) Idiopathic hypoparathyroidism is an uncommon condition characterised by the absence, fatty replacement or atrophy of the parathyroid glands. It may be familial or sporadic. Familial idiopathic hypoparathyroidism may be inherited as a sex linked recessive, autosomal recessive (...) General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small data

2010 GP Notebook

2643. familial dysbetalipoproteinaemia

familial dysbetalipoproteinaemia familial dysbetalipoproteinaemia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial dysbetalipoproteinaemia This condition is characterised by raised triglyceride and cholesterol levels due to abnormally high concentration of IDL and chylomicrons. It is inherited as an autosomal recessive trait. This is a type III hyperlipidaemia according to the WHO classification. This disease (...) of a type III hyperlipidaemia because of the mechanism of the hyperlipidaemia being related to excess VLDL particles (see linked item). First-line treatment is usually with a fibrate or fish oil Reference: Durrington, PN (1995). Hyperlipidaemia: diagnosis and management. 2nd edition. Butterworth-Heinemann Limited. Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical

2010 GP Notebook

2644. familial cancer syndromes causing sarcomas

. Familial syndromes causing sarcomata include: neurofibromatosis familial retinoblastoma Li-Fraumeni syndrome Beckwith-Wiedemann syndrome basal cell naevus Gardner syndrome Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution (...) familial cancer syndromes causing sarcomas familial cancer syndromes causing sarcomas - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial cancer syndromes causing sarcomas Soft tissue sarcomata are rare tumours accounting for less than 1% of adult tumours but up to 6% of childhood tumours. A genetic risk factor for sarcoma formation may be present in as many as one third of all patients with childhood sarcomata

2010 GP Notebook

2645. Airways and Intubation

. 2007 Feb54(2):124-8. ; American Thoracic Society ; Tracheostomy practice in adults with acute respiratory failure. Crit Care Med. 2012 Oct40(10):2890-6. ; Rapid sequence induction and intubation: current controversy. Anesth Analg. 2010 May 1110(5):1318-25. doi: 10.1213/ANE.0b013e3181d5ae47. Epub 2010 Mar 17. ; Best evidence topic report. Cricoid pressure in emergency rapid sequence induction. Emerg Med J. 2005 Nov22(11):815-6. ; Family Practice Notebook ; The success of emergency endotracheal (...) Airways and Intubation Airways and Intubation. Oral intubation information. Patient | Patient TOPICS Try our Symptom Checker TREATMENT RESOURCES Try our Symptom Checker PROFESSIONAL Upgrade to Patient Pro / / Search Airways and Intubation Authored by , Reviewed by | Last edited 2 Nov 2016 | Certified by This article is for Medical Professionals Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK

2008 Mentor

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