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Family Practice Notebook Updates 2016

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2521. Gerstmann-Straussler-Scheinker disease

Gerstmann-Straussler-Scheinker disease Gerstmann-Straussler-Scheinker disease - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search Gerstmann-Straussler-Scheinker disease Gerstmann-Straussler-Scheinker disease is a rare familial prion disease. The patient presents in adult life with a progressive cerebellar syndrome which may be accompanied later by myoclonus and dementia. 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

2010 GP Notebook

2522. delayed speech

delayed speech delayed speech - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search delayed speech speech (1) is a motor act of communication through articulation of verbal expression (2) is the sound that originates in the mouth it should be differentiated from language language (1) is the knowledge of a symbol system used for communication between persons (2) is associated with meanings, rather than sounds is a measure (...) . For example the parents of a 2 year-old boy with obviously normal development but a vocabulary of only 10 to 20 words may be comparing him with the little girl of similar age in the same street but with a vocabulary of 200 words. Both are within the normal range. Reference: (1) (2) 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

2010 GP Notebook

2523. hereditary spastic paraparesis

: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. American Journal of Medical Genetics 1997;74(1):26-36. 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 (...) hereditary spastic paraparesis hereditary spastic paraparesis - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search hereditary spastic paraparesis This is a hereditary neurodegenerative disorder which in its simple form results in a progressive spastic paraplegia. Patients present at any time from childhood to old age. There are two main forms of the disease: early onset with a very indolent course later onset, 40-60 yrs

2010 GP Notebook

2524. maternal epilepsy in pregnancy

guidance then consult the full guideline (4) Reference: Drug and Therapeutics Bulletin (2005); 43(2):13-16. Prescriber (2001); 12 (18): 30-36. BNF 4.8 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 (...) maternal epilepsy in pregnancy maternal epilepsy in pregnancy - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search maternal epilepsy in pregnancy In the UK, 1800-2400 infants are born every year to women with epilepsy (1). Maternal epilepsy increases the risk to the fetus in pregnancy three fold, even in the absence of treatment. With treatment, there are recognised fetopathies with most drugs used. Children with one epileptic

2010 GP Notebook

2525. patella dislocation

patella dislocation patella dislocation - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search patella dislocation This condition usually results from a twisting injury or a direct blow, with the knee in slight flexion. the injury is painful and may cause the patient to fall to the ground commonly seen in the second and third decade of life and often in women (1) a retrospective study of 270 patients and 284 knees with acute (...) , medial displacement is extremely uncommon and usually, a complication of surgery in recurrent dislocation. The knee is swollen and neither active nor passive movement is possible. X-ray of the knee confirms the displacement and in about 5% of cases, reveals an associated osteochondral fracture. Reference: (1) (2) (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

2010 GP Notebook

2526. haemophilia B

haemophilia B haemophilia B - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search haemophilia B Haemophilia B results from a congenital deficiency of Factor IX coagulant activity. It is an X-linked recessive disorder affecting 1 in 30 000 males. It 'breeds' true so that family members tend to be all severely affected or all mildly affected. It is clinically indistinguishable from haemophilia A, presenting with recurrent (...) haemorrhage, spontaneously or post-operatively, into soft tissues and joints. 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

2010 GP Notebook

2527. colon polyp

colon polyp colon polyp - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search colon polyp Colonic polyps may be single or multiple. Familial polyposis coli is a condition that is inherited in autosomal dominant manner in which there is extensive polyposis of the large bowel. Polyps are a common finding in the colon. All polyps have malignant potential although the majority are adenomas, i.e. benign neoplasms. A polyp may have (...) undergone malignant change but still be at an early stage, and hence is potentially curable. All polyps should be assumed to be malignant until proved otherwise. 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

2528. disulfiram

disulfiram disulfiram - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search disulfiram disulfiram blocks the oxidation of alcohol causing an accumulation of acetaldehyde after drinking - disulfiram is an inhibitor of hepatic aldehyde dehydrogenase (ALDH). This results in symptoms such as abdominal colic, flushing, anxiety, dizziness, tachycardia, vomiting and headache. Symptoms start 5-15 minutes after drinking alcohol and last (...) . The summary of product characteristics must be consulted before prescribing this drug. Reference: Prescriber 2004; 15(9): 16-25. Drug and Therapeutics Bulletin (2000); 38 (8):60-64. Drug and Therapeutics Bulletin (1996), Drugs and alcohol: harmful cocktails?; 34 (5): 36-8. Kwentus J, Major LF (1979), Disulfiram in the treatment of alcoholism, J Stud Alcohol, 40, 428-46. Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment

2010 GP Notebook

2529. X-linked dominant disorders

X-linked dominant disorders X-linked dominant disorders - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search X-linked dominant disorders X-linked dominant disorders are characterised by: expression in both sexes, but with a greater incidence in females due to the greater number of X chromosomes the female may be homozygous or heterozygous for the affected gene - this can only be elucidated from the family pedigree - while (...) , all are rare. Examples are: Xg blood group vitamin D resistant rickets Rett's syndrome Fragile X syndrome Pseudohypoparathyroidism represents one of the difficulties in determining linkage; the apparent lack of transmission from male to male is now thought to be secondary to male hypofertility, and the disease has been reclassified as autosomal dominant. Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any

2010 GP Notebook

2530. primary arterial pulmonary hypertension

pulmonary hypertension must also be differentiated from raised pulmonary pressure due to liver disease, chronic pulmonary parenchymal disease or persistent obstruction of the upper airway. Approximately 6-10% of cases of primary pulmonary hypertension are familial and the underlying genetic defect generally involves a mutation in a receptor member of the transforming growth factor-beta family (1). Reference: BHF Factfile (1/2003). Pulmonary Hypertension. Links: General Practice Notebook General Practice (...) primary arterial pulmonary hypertension primary arterial pulmonary hypertension - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search primary arterial pulmonary hypertension Primary pulmonary hypertension is a disease of unknown aetiology. Primary pulmonary hypertension has an incidence of 1-2/million per year. It is more common in women - the female: male ration is ratio 2.3:1. It occurs most often in the 3rd and 4th decades

2010 GP Notebook

2531. PPH (primary pulmonary hypertension)

hypertension must also be differentiated from raised pulmonary pressure due to liver disease, chronic pulmonary parenchymal disease or persistent obstruction of the upper airway. Approximately 6-10% of cases of primary pulmonary hypertension are familial and the underlying genetic defect generally involves a mutation in a receptor member of the transforming growth factor-beta family (1). Reference: BHF Factfile (1/2003). Pulmonary Hypertension. Links: General Practice Notebook General Practice Notebook (...) PPH (primary pulmonary hypertension) PPH (primary pulmonary hypertension) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search PPH (primary pulmonary hypertension) Primary pulmonary hypertension is a disease of unknown aetiology. Primary pulmonary hypertension has an incidence of 1-2/million per year. It is more common in women - the female: male ration is ratio 2.3:1. It occurs most often in the 3rd and 4th decades. Symptoms

2010 GP Notebook

2532. antihypertensive therapy in hypertension

antihypertensive therapy in hypertension antihypertensive therapy in hypertension - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search antihypertensive therapy in hypertension The guidance regarding combination treatment of systemic hypertension has been updated (1): BP targets in adults (non-diabetics) Clinical Blood pressure: people aged under 80 years: lower than 140/90 mm Hg people aged over 80 years: lower than 150/90 mm (...) age, or with increased sympathetic drive. If therapy is initiated with beta Blocker and 2nd drug is required, Add CCB rather than diuretic to reduce person's risk of developing DM Reference: 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

2533. attempted suicide

attempted suicide attempted suicide - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search attempted suicide In England and Wales there are at least 200,000 general hospital presentations for self-harm (intentional self-poisoning or self-injury) per year self-harm occurs in relation to a wide range of personal problems, emotional turmoil and psychiatric disorders. It carries a significant risk of subsequent suicide and has major (...) than 10% of girls and more than 3% of boys had self-harmed in the previous year (2) self-harm increases the likelihood that the person will eventually die by suicide by between 50- and 100-fold above the rest of the population in a 12-month period Reference: Self-harm (longer term management), NICE Clinical Guideline (November 2011) 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

2534. idiopathic hypoparathyroidism

idiopathic hypoparathyroidism idiopathic hypoparathyroidism - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search idiopathic hypoparathyroidism 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

2535. pharmacological treatment of hypertension

pharmacological treatment of hypertension pharmacological treatment of hypertension - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search pharmacological treatment of hypertension The guidance regarding combination treatment of systemic hypertension has been updated (1): BP targets in adults (non-diabetics) Clinical Blood pressure: people aged under 80 years: lower than 140/90 mm Hg people aged over 80 years: lower than 150/90 (...) age, or with increased sympathetic drive. If therapy is initiated with beta Blocker and 2nd drug is required, Add CCB rather than diuretic to reduce person's risk of developing DM Reference: 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

2536. deliberate self-harm

deliberate self-harm deliberate self-harm - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search deliberate self-harm In England and Wales there are at least 200,000 general hospital presentations for self-harm (intentional self-poisoning or self-injury) per year self-harm occurs in relation to a wide range of personal problems, emotional turmoil and psychiatric disorders. It carries a significant risk of subsequent suicide (...) estimated that more than 10% of girls and more than 3% of boys had self-harmed in the previous year (2) self-harm increases the likelihood that the person will eventually die by suicide by between 50- and 100-fold above the rest of the population in a 12-month period Reference: Self-harm (longer term management), NICE Clinical Guideline (November 2011) Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical

2010 GP Notebook

2537. SGA

SGA SGA - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search SGA The terms small for dates or light for dates are used to describe infants weighing less than the tenth centile for their gestation (although other definitions are also available - see below). Note, it is not the third centile that is important here, which can lead to confusion with definitions later in life such as short stature. The term 'small for gestational (...) , or growth hormone deficiency approximately 10% of children born small for gestational age do not reach the normal height range those whose growth has not caught up by 4 years of age are candidates for treatment with growth hormone (1) Reference: 1) 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

2010 GP Notebook

2538. small for gestational age

diagnoses such as familial short stature, Turner syndrome, or growth hormone deficiency approximately 10% of children born small for gestational age do not reach the normal height range those whose growth has not caught up by 4 years of age are candidates for treatment with growth hormone (1) Reference: 1) 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 (...) small for gestational age small for gestational age - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search small for gestational age The terms small for dates or light for dates are used to describe infants weighing less than the tenth centile for their gestation (although other definitions are also available - see below). Note, it is not the third centile that is important here, which can lead to confusion with definitions

2010 GP Notebook

2539. actinomycosis

actinomycosis actinomycosis - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search actinomycosis Actinomycosis is rare, chronic bacterial infection which results in a slowly progressive granulomatous disease. the bacteria which is a filamentous Gram positive anaerobic bacteria from the Actinomycetaceae family (genus Actinomyces) is a normal colonizing organism of the human oropharynx, gastrointestinal tract, and urogenital tract (...) (including S aureus) , streptococci (including β haemolytic streptococci and S pneumoniae), or Enterobacteriaceae but precise pattern of organisms depends on the site of infection (1). The infection spreads along the fascial planes and occasionally by the blood-stream, but not via the lymphatics. Thermophilic actinomycetes found in hay are the cause of the extrinsic allergic alveolitis termed farmer's lung. Reference: (1) Links: General Practice Notebook General Practice Notebook The information provided

2010 GP Notebook

2540. dengue fever

dengue fever dengue fever - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search dengue fever Dengue fever is a condition caused by an RNA virus (arbovirus), which is common in tropic and subtropical areas, particularly India, South East Asia and the Pacific. Dengue fever is spread by mosquitoes. it is considered to be the most important arboviral disease of humans primary vector is Aedes aegypti , a day biting mosquito. Aedes (...) of dengue (either dengue haemorrhagic fever or dengue shock syndrome). transplacental transfer of antibodies from an immune mother to an infant may cause severe dengue fever during primary infection (2) Infection with a particular serotype produces lifelong immunity to that specific serotype. Viral cross protection against other serotypes is present only for a few months. Reference: (1) (2) (3) Links: General Practice Notebook General Practice Notebook The information provided herein should not be used

2010 GP Notebook

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