Genetics

CLINICAL /
Genetics

Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation
N K Agrawal, Sunny Garg

Case Reports Sep 2012, 2012 bcr2012006202; DOI: 10.1136/bcr-2012-006202
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia
Kristjan Dereksson, Sveinn Kjartansson, Hulda Hjartardóttir, Reynir Arngrimsson

Case Reports Aug 2012, 2012 bcr0220125823; DOI: 10.1136/bcr.02.2012.5823
Tuberous sclerosis complex presenting as bilateral large renal angiomyolipomas
Neelam Redkar, Meenakshi Amit Patil, Tushar Dhakate, Prasad Kolhe

Case Reports Aug 2012, 2012 bcr2012006412; DOI: 10.1136/bcr-2012-006412
Cenani–Lenz syndrome-like limb anomaly with more severe involvement of left side
Saleem Ahmed, Jumana Yousef Al-Aama

Case Reports Jul 2012, 2012 bcr0120125634; DOI: 10.1136/bcr.01.2012.5634
Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes
Rachel E J Besser, Jackie Jones, Timothy J McDonald, Rebecca Smith, Maggie H Shepherd, Andrew T Hattersley

Case Reports Jul 2012, 2012 bcr0120125612; DOI: 10.1136/bcr.01.2012.5612
Pelvi-ureteric junction obstruction in autosomal-dominant polycystic kidney disease: an association yet to be reported
Neeraj Kumar Goyal, Apul Goel, Rahul Yadav, Satyanarayan Sankhwar

Case Reports Jul 2012, 2012 bcr2012006229; DOI: 10.1136/bcr-2012-006229
Unusual case of subarachnoid haemorrhage in patient with Fabry’s disease: case report and literature review
Michael T Cormican, Thanasis Paschalis, Angela Viers, Cargill H Alleyne

Case Reports Jul 2012, 2012 bcr0220125727; DOI: 10.1136/bcr.02.2012.5727
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene
Ana Novo, Isabel Couto Guerra, Felisbela Rocha, Susana Gama-de-Sousa, Teresa Borges, Rita Cerqueira, Purificação Tavares, Paula Fonseca

Case Reports Jun 2012, 2012 bcr1220115380; DOI: 10.1136/bcr-12-2011-5380
Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus
Peter Okunola, Gabriel Ofovwe, Moses Abiodun, Abiodun Isah, Joyce Ikubor

Case Reports Jun 2012, 2012 bcr1220115432; DOI: 10.1136/bcr.12.2011.5432
How many fingers should be there to be a competent electrician?-two cases of ectrodactyly
Chandrasekharan Rajasekharan, Thomas Nishanth

Case Reports Jun 2012, 2012 bcr0320126149; DOI: 10.1136/bcr.03.2012.6149

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CLINICAL
- Anaesthesia (19)
- Cardiovascular medicine (152)
- Complementary medicine (2)
- Dentistry and oral medicine (20)
- Dermatology (76)
- Diagnostics
  - Clinical diagnostic tests (11)
  - Radiology (diagnostics) (27)
  - Surgical diagnostic tests (3)
- Diagnostics
- Drugs and medicines (246)
- Ear, nose and throat/otolaryngology (33)
- Emergency medicine
  - Disaster response
  - Poisoning (7)
  - Resuscitation (15)
  - Trauma (20)
- Emergency medicine (65)
- Endocrinology
  - Adrenal disorders (16)
  - Calcium and bone (13)
  - Diabetes (21)
  - Drugs: endocrine system (6)
  - Lipid disorders (5)
  - Metabolic disorders (9)
  - Pituitary disorders (11)
  - Thyroid disease (29)
- Endocrinology (92)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (124)
- Gastroenterology
  - Drugs: gastrointestinal system (9)
  - Endoscopy (28)
  - GI bleeding (17)
  - Infection (gastroenterology) (12)
  - Inflammatory bowel disease (7)
  - Liver disease (19)
  - Neurogastroenterology
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  - Portal hypertension (2)
  - Small intestine (11)
  - Stomach and duodenum (15)
- General practice / family medicine (29)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (9)
  - Molecular genetics
- Genetics (40)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine)
  - Long term care (2)
  - Psychogeriatrics
- Geriatric medicine (9)
- Haematology (incl blood transfusion) (59)
- HIV/AIDS (10)
- Immunology (including allergy) (50)
- Infectious diseases (148)
- Intensive care
  - Adult intensive care (26)
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  - Paediatric intensive care (5)
- Intensive care (54)
- Neurology
  - Brain stem / cerebellum (13)
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  - Clinical neurophysiology (6)
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- Neurology (206)
- Nursing (5)
- Nutrition and metabolism
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- Nutrition and metabolism (13)
- Obstetrics and gynaecology (69)
- Oncology (179)
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- Orthopaedics (37)
- Paediatrics
  - Adolescent health
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  - Child health
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  - Failure to thrive (2)
  - Infant health (6)
  - Infant nutrition (including breastfeeding)
  - Materno-fetal medicine (7)
  - Neonatal and paediatric intensive care (10)
  - Neonatal health (15)
  - SIDS
- Paediatrics (106)
- Palliative care
  - End of life decisions (palliative care)
  - Hospice
  - Pain (palliative care)
- Palliative care (2)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
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  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (62)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (2)
  - Medicines regulation
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  - Unwanted effects / adverse reactions (37)
- Pharmacology and therapeutics (59)
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders
  - Anxiety disorders (including OCD and PTSD) (1)
  - Child and adolescent psychiatry
  - Delirium (2)
  - Drugs misuse (including addiction) (3)
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  - Eating disorders (2)
  - Impulse control disorders (1)
  - Memory disorders (psychiatry) (5)
  - Mood disorders (including depression) (2)
  - Personality disorders
  - Psychiatry of old age (2)
  - Psychotherapy (1)
  - Psychotic disorders (incl schizophrenia) (8)
  - Sexual and gender disorders (2)
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  - Somatoform disorders (1)
  - Suicide (psychiatry) (1)
- Psychiatry (29)
- Radiology (104)
- Rehabilitation medicine
  - Continuing medical education
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  - Other rehabilitative therapies
  - Physiotherapy (5)
- Rehabilitation medicine (6)
- Renal medicine
  - Acute renal failure (20)
  - Chronic renal failure (9)
  - Dialysis (6)
  - Fluid electrolyte and acid-base disturbances (8)
  - Nephrotic syndrome (5)
  - Proteinurea (9)
  - Renal transplantation (5)
- Renal medicine (52)
- Respiratory medicine (73)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (3)
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  - Drugs: musculoskeletal and joint diseases (5)
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- Rheumatology (68)
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- Surgery
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  - Surgical oncology (32)
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  - Urological surgery (18)
  - Vascular surgery (21)
- Surgery (325)
- Urology (32)
NON-CLINICAL
- Communication
- Epidemiology
  - Clinical trials (epidemiology)
  - Epidemiologic studies
  - Population trends
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  - Survey techniques
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  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
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  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
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  - Sexuality / gender
- Ethics (2)
- Ethnic studies
- Health economics
- Health informatics
  - Information management
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  - Telemedicine
- Health policy
- Health service research
- Journalology
- Legal and forensic medicine
- Medical careers
  - Choosing / changing career
  - Combining life and work
  - Communication
  - Continuous professional development
  - Flexible training
  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
  - Portfolio development
  - Prepare for appraisal
  - Prepare for interview
  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate
- Medical education (11)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (17)
- Occupational and environmental medicine (19)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (15)
- Smoking and tobacco (2)
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
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