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Family Practice Notebook Updates 2016

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2621. sarcoma (familial syndromes)

: 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 or duplication of the information contained herein (...) sarcoma (familial syndromes) sarcoma (familial syndromes) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search sarcoma (familial syndromes) 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. Familial syndromes causing sarcomata include

2010 GP Notebook

2622. hypertriglyceridaemia (familial)

hypertriglyceridaemia (familial) hypertriglyceridaemia (familial) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search hypertriglyceridaemia (familial) Familial hypertriglycidaemia 2.3-10 mmol/L This condition has an autosomal dominant inheritance. This condition is characterised by increased VLDL only (high VLDL production, decreased lipoprotein lipase activity) [Fredrickson type IV]. This condition occurs in approximately 1 (...) 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 or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small

2010 GP Notebook

2623. family planning

family planning family planning - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search family planning Technique: Method Failure Rate defined as (pregnancies / 100 woman-years (%) ) Norplant; failure rate 0.2-1.1 0.2-1.1 Implanon (3) fewer than 0.1 in 100 over 3 years (3) Mirena coil 0.09 combined pill 0.2-0.3 mini-pill 0.3-5 condom 2-15 diaphragm and spermicide 5 IUCD (see below) 0.3-4 coitus interruptus 30 rhythm method 30 (...) - 40 Depo Provera < 0.5 none 60-70 Interpretation - 5% failure rate means that if 100 women used this form of contraception, 5 would be pregnant within one year. Reference: Drug and Therapeutics Bulletin 1996; 34 (12): 93-5. BNF 7.3 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

2010 GP Notebook

2624. familial adenomatous polyposis

heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. J. Med. Genet.;31(1): 55-8. 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 or duplication (...) familial adenomatous polyposis familial adenomatous polyposis - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial adenomatous polyposis Familial polyposis coli is characterized by the presence of 100 to more than 1000 tubular adenomas which carpet the colon. Less frequently, lesions occur in the stomach and the small bowel, particularly the duodenum. This condition has a prevalence of 1 in 7000 to 1 in 24000

2010 GP Notebook

2625. familial hypertriglyceridaemia

familial hypertriglyceridaemia familial hypertriglyceridaemia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial hypertriglyceridaemia Familial hypertriglycidaemia 2.3-10 mmol/L This condition has an autosomal dominant inheritance. This condition is characterised by increased VLDL only (high VLDL production, decreased lipoprotein lipase activity) [Fredrickson type IV]. This condition occurs in approximately 1 (...) 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 or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small

2010 GP Notebook

2626. triglyceridaemia (familial)

triglyceridaemia (familial) triglyceridaemia (familial) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search triglyceridaemia (familial) Familial hypertriglycidaemia 2.3-10 mmol/L This condition has an autosomal dominant inheritance. This condition is characterised by increased VLDL only (high VLDL production, decreased lipoprotein lipase activity) [Fredrickson type IV]. This condition occurs in approximately 1% of general (...) 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 or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small

2010 GP Notebook

2627. fatal familial insomnia

fatal familial insomnia fatal familial insomnia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search fatal familial insomnia Fatal familial insomnia is a rare inherited prion disease. Patients present in their 50's with a progressive sleep disorder. There may be autonomic dysfunction. Dementia and death usually occur within one year following presentation. 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 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 files on your computer called cookies

2010 GP Notebook

2628. 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

2629. FH (familial hypercholesterolaemia)

FH (familial hypercholesterolaemia) FH (familial hypercholesterolaemia) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search FH (familial hypercholesterolaemia) This is an autosomal dominant disorder of chromosome 19 with homozygous and heterozygous forms; the latter occurs in one in 500 people (meaning that approximately 110,000 people are affected in the UK) (1). It is defined in the WHO classification as a type IIa (...) with premature CHD (men < 55 years and women < 65 years) are screened for lipids. Reference: Public Health England (August 2018).Familial Hypercholesterolaemia Implementing a systems approach to detection and management. JBS2: Joint British Societies' guidelines on prevention of cardiovascular disease in clinical practice. Heart 2005; 91 (Supp 5). Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition

2010 GP Notebook

2630. FH(family history) checklist

and psychiatric health current age of family members age and cause of death of family members position in family and number of siblings consanguinity (especially cousin marriages) 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 (...) FH(family history) checklist FH(family history) checklist - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search FH(family history) checklist The most relevant family history is that of first-degree relatives, the parents, siblings and children. The health of more distant relatives and certainly that of the spouse, although not a blood relative, can also be important to a patient's well-being. Factors include: general

2010 GP Notebook

2631. familial polyposis coli

of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. J. Med. Genet.;31(1): 55-8. 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 or duplication (...) familial polyposis coli familial polyposis coli - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial polyposis coli Familial polyposis coli is characterized by the presence of 100 to more than 1000 tubular adenomas which carpet the colon. Less frequently, lesions occur in the stomach and the small bowel, particularly the duodenum. This condition has a prevalence of 1 in 7000 to 1 in 24000, and is most commonly

2010 GP Notebook

2632. familial triglyceridaemia

familial triglyceridaemia familial triglyceridaemia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial triglyceridaemia Familial hypertriglycidaemia 2.3-10 mmol/L This condition has an autosomal dominant inheritance. This condition is characterised by increased VLDL only (high VLDL production, decreased lipoprotein lipase activity) [Fredrickson type IV]. This condition occurs in approximately 1% of general (...) 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 or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small

2010 GP Notebook

2633. FCH (familial combined hyperlipidaemia)

FCH (familial combined hyperlipidaemia) FCH (familial combined hyperlipidaemia) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search FCH (familial combined hyperlipidaemia) This condition causes a variable increase in cholesterol (6.5-10 mmol/L) and triglycerides (2.3-12 mmol/L). It is the second commonest primary hyperlipidaemia (after polygenic hypercholesterolaemia). Patients presenting with this condition are: generally (...) members. This condition may be seen about 0.5 %-1% of the general population and in up to 15% of patients suffering myocardial infarctions who were less than 60 years old at the time of the myocardial infarction. 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

2010 GP Notebook

2634. familial mediterranean fever

familial mediterranean fever familial mediterranean fever - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial mediterranean fever This is an inherited condition of unknown aetiology. It is characterized be episodes of fever, peritonitis and/or pleuritis. Amyloidosis, skin lesions and arthritis may be seen in these patients. This condition occurs most often in non-Ashkenazi Jews, Armenians and Arabs (...) . It is not restricted to these groups and may occur in, among others, people of Ashkenazi Jewish, Italian, and Anglo-saxon descent. 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 or duplication of the information contained herein

2010 GP Notebook

2635. familial paroxysmal polyserositis

familial paroxysmal polyserositis familial paroxysmal polyserositis - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial paroxysmal polyserositis This is an inherited condition of unknown aetiology. It is characterized be episodes of fever, peritonitis and/or pleuritis. Amyloidosis, skin lesions and arthritis may be seen in these patients. This condition occurs most often in non-Ashkenazi Jews, Armenians and Arabs (...) . It is not restricted to these groups and may occur in, among others, people of Ashkenazi Jewish, Italian, and Anglo-saxon descent. 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 or duplication of the information contained herein

2010 GP Notebook

2636. mediterranean fever(familial)

mediterranean fever(familial) mediterranean fever(familial) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search mediterranean fever(familial) This is an inherited condition of unknown aetiology. It is characterized be episodes of fever, peritonitis and/or pleuritis. Amyloidosis, skin lesions and arthritis may be seen in these patients. This condition occurs most often in non-Ashkenazi Jews, Armenians and Arabs (...) . It is not restricted to these groups and may occur in, among others, people of Ashkenazi Jewish, Italian, and Anglo-saxon descent. 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 or duplication of the information contained herein

2010 GP Notebook

2637. 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

2638. familial breast cancer

oncoplastic or breast reconstructive skills Reference: Pulse (2005); 65(14):55-60. Evans DGR et al. (1994). Familial breast cancer. BMJ; 308:183-7 McPherson et al. (1994). BMJ;309: 1004 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 (...) familial breast cancer familial breast cancer - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial breast cancer Up to 10% of breast cancer in western countries is due to genetic predisposition. Susceptibility to breast cancer appears to be inherited as an autosomal dominant with limited penetrance and may thus be inherited from either father or mother. About 5% of breast cancer is due to highly penetrant dominant

2010 GP Notebook

2639. familial combined hyperlipidaemia

familial combined hyperlipidaemia familial combined hyperlipidaemia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial combined hyperlipidaemia This condition causes a variable increase in cholesterol (6.5-10 mmol/L) and triglycerides (2.3-12 mmol/L). It is the second commonest primary hyperlipidaemia (after polygenic hypercholesterolaemia). Patients presenting with this condition are: generally over 30 years of age (...) may be seen about 0.5 %-1% of the general population and in up to 15% of patients suffering myocardial infarctions who were less than 60 years old at the time of the myocardial infarction. 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

2010 GP Notebook

2640. familial hypercholesterolaemia

familial hypercholesterolaemia familial hypercholesterolaemia - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search familial hypercholesterolaemia This is an autosomal dominant disorder of chromosome 19 with homozygous and heterozygous forms; the latter occurs in one in 500 people (meaning that approximately 110,000 people are affected in the UK) (1). It is defined in the WHO classification as a type IIa hyperlipidaemia. tendon (...) and women < 65 years) are screened for lipids. Reference: Public Health England (August 2018).Familial Hypercholesterolaemia Implementing a systems approach to detection and management. JBS2: Joint British Societies' guidelines on prevention of cardiovascular disease in clinical practice. Heart 2005; 91 (Supp 5). 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

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