Genetic Screening / Counselling

Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045
Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutation
Rosa Martins, Sofia Fraga, Isabel Esteves, Paulo Calhau

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2018-227346; DOI: 10.1136/bcr-2018-227346
Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome
Keigo Kobayashi

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-228939; DOI: 10.1136/bcr-2018-228939
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS)
Dileep Kumar, Mary King, Belinda Jim, Anjali Acharya

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226571; DOI: 10.1136/bcr-2018-226571
PIBIDS syndrome in two Brazilian siblings
Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin

BMJ Case Reports CP Nov 2018, 11 (1) e223744; DOI: 10.1136/bcr-2017-223744
Special form of osteoporosis in a 53-year-old man
Simon Lampart, Silvia Azzarello-Burri, Christoph Henzen, Stefan Fischli

BMJ Case Reports CP Nov 2018, 11 (1) e226672; DOI: 10.1136/bcr-2018-226672
Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins
Tachjaree Panchalee, Pornpimol Ruangvutilert, Pattarawan Limsiri, Pavit Sutcharitpongsa

Case Reports Oct 2018, 2018 bcr-2018-224362; DOI: 10.1136/bcr-2018-224362
APRT deficiency: the need for early diagnosis
Aamira Huq, Kushma Nand, Rajiv Juneja, Ingrid Winship

Case Reports Oct 2018, 2018 bcr-2018-225742; DOI: 10.1136/bcr-2018-225742
Lady with ‘lobster claw’ feet
Amani Aman, Louis Darby, Muhammad Javaid Hameed Rahmani

Case Reports Oct 2018, 2018 bcr-2018-226368; DOI: 10.1136/bcr-2018-226368
A case of young diabetes and parasuicide
Sailesh Lodha, Liza Das, Ghanshyam das Ramchandani, Anil Bhansali

Case Reports Sep 2018, 2018 bcr-2018-225839; DOI: 10.1136/bcr-2018-225839

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CLINICAL
- Anaesthesia (2)
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- Diagnostics
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- Diagnostics
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- Ear, nose and throat/otolaryngology (5)
- Emergency medicine
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- Emergency medicine (18)
- Endocrinology
  - Adrenal disorders (2)
  - Calcium and bone (2)
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  - Drugs: endocrine system (1)
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- Endocrinology (22)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
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- Gastroenterology
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- General practice / family medicine (8)
- Genetics
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- Genetics (9)
- Geriatric medicine
  - Elder abuse
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- Geriatric medicine (3)
- Haematology (incl blood transfusion) (14)
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  - Hospice
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- Palliative care (1)
- Pathology
  - Chemical pathology
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NON-CLINICAL
- Communication
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  - Experiments in vivo
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  - Leaving medicine
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  - Pay, working conditions, and health
  - Personal development
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  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
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- Medical education (1)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (4)
- Occupational and environmental medicine (4)
- Patients
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  - Abuse (child, partner, elder)
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  - 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 (6)
- Smoking and tobacco
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods
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Genetic Screening / Counselling

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