Rare disease

Adrenocortical neoplasm of uncertain malignant potential with a myelolipomatous component
Adithya Balasubramanian, Jason Scovell, Adam E Dowell, Wesley Mayer

BMJ Case Reports CP Jun 2020, 13 (6) e234591; DOI: 10.1136/bcr-2020-234591
Rare case of metastatic small cell carcinoma of the nasopharynx to the pancreas
Jonathan Teinor, Lara Groshek, Jin He

BMJ Case Reports CP Jun 2020, 13 (6) e235054; DOI: 10.1136/bcr-2020-235054
Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene
Vânia Gomes, Catarina Silvestre, Florbela Ferreira, Maria João Guerreiro Martins Bugalho

BMJ Case Reports CP Jun 2020, 13 (6) e234391; DOI: 10.1136/bcr-2020-234391
Extensive maxillary osteomyelitis following tooth extraction in a patient with osteopetrosis
Kumar Nilesh

BMJ Case Reports CP Jun 2020, 13 (6) e235091; DOI: 10.1136/bcr-2020-235091
Disseminated septic arthritis caused by Streptococcus equi infection
Khudaim Mohammed Mobeen, Janine Carter, Zaheer Ahmed, Jane Minton

BMJ Case Reports CP Jun 2020, 13 (6) e234188; DOI: 10.1136/bcr-2019-234188
Appendiceal neurofibroma and diverticula in a neurofibromatosis type 1 patient with chronic right lower quadrant pain
Katrien Van de Steen, Robert Riedl, Sébastien Strypstein, Evert-Jan Boerma

BMJ Case Reports CP Jun 2020, 13 (6) e234383; DOI: 10.1136/bcr-2020-234383
Intralaryngeal paraganglioma workup and discussion of surgical approach
Nicholas B Abt, Andrew J Holcomb, Stuti Shroff, Daniel G Deschler

BMJ Case Reports CP Jun 2020, 13 (6) e234745; DOI: 10.1136/bcr-2020-234745
Retrorectal cyst: proteus in the backyard—case series and literature review
Kirithiga Ramalingam, Caroline Fiser, Quratulain Sabih, Ashwani Rajput

BMJ Case Reports CP Jun 2020, 13 (6) e231080; DOI: 10.1136/bcr-2019-231080
Chemotherapy associated dural sinus thrombosis presenting as a cerebrospinal fluid leak
Iulia Bujoreanu, Mark Ferguson, Hesham Saleh

BMJ Case Reports CP Jun 2020, 13 (6) e235240; DOI: 10.1136/bcr-2020-235240
Cervicofacial actinomycosis of the mandible in a paediatric patient
Jason J Cho, Raymond Patrick Shupak

BMJ Case Reports CP May 2020, 13 (5) e233681; DOI: 10.1136/bcr-2019-233681

Pages

CLINICAL
- Anaesthesia (43)
- Cardiovascular medicine (307)
- Complementary medicine (2)
- Dentistry and oral medicine (53)
- Dermatology (141)
- Diagnostics
  - Clinical diagnostic tests (17)
  - Radiology (diagnostics) (47)
  - Surgical diagnostic tests (9)
- Diagnostics
- Drugs and medicines (533)
- Ear, nose and throat/otolaryngology (97)
- Emergency medicine
  - Disaster response
  - Poisoning (16)
  - Resuscitation (23)
  - Trauma (45)
- Emergency medicine (139)
- Endocrinology
  - Adrenal disorders (41)
  - Calcium and bone (28)
  - Diabetes (39)
  - Drugs: endocrine system (7)
  - Lipid disorders (5)
  - Metabolic disorders (27)
  - Pituitary disorders (18)
  - Thyroid disease (38)
- Endocrinology (183)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (285)
- Gastroenterology
  - Drugs: gastrointestinal system (18)
  - Endoscopy (58)
  - GI bleeding (25)
  - Infection (gastroenterology) (36)
  - Inflammatory bowel disease (20)
  - Liver disease (68)
  - Neurogastroenterology
  - Oesophagus (21)
  - Pancreas and biliary tract (35)
  - Pancreatitis (19)
  - Portal hypertension (4)
  - Small intestine (22)
  - Stomach and duodenum (28)
- General practice / family medicine (55)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (21)
  - Molecular genetics
- Genetics (73)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine)
  - Long term care (4)
  - Psychogeriatrics
- Geriatric medicine (16)
- Haematology (incl blood transfusion) (158)
- HIV/AIDS (23)
- Immunology (including allergy) (54)
- Infectious diseases (351)
- Intensive care
  - Adult intensive care (85)
  - Mechanical ventilation (18)
  - Neonatal intensive care (22)
  - Paediatric intensive care (11)
- Intensive care (144)
- Neurology
  - Brain stem / cerebellum (28)
  - Cerebral palsy (1)
  - Clinical neurophysiology (13)
  - Coma and raised intracranial pressure (10)
  - Cranial nerves (23)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (8)
  - Epilepsy and seizures (35)
  - Headache (including migraine) (9)
  - Hydrocephalus (5)
  - Infection (neurology) (43)
  - Motor neurone disease (2)
  - Movement disorders (other than Parkinsons) (19)
  - Multiple sclerosis (3)
  - Muscle disease (18)
  - Neuroimaging (91)
  - Neurological injury (26)
  - Neuromuscular disease (20)
  - Neurooncology (24)
  - Neuroophthalmology (8)
  - Pain (neurology) (10)
  - Parkinson's disease (3)
  - Peripheral nerve disease (28)
  - Sleep disorders (neurology) (1)
  - Spinal cord (26)
  - Stroke (62)
  - Trauma CNS / PNS (9)
  - Variant Creutzfeld-Jakob Disease (1)
- Neurology (429)
- Nursing (10)
- Nutrition and metabolism
  - Childhood nutrition
  - Diet (10)
  - Malnutrition (6)
  - Obesity (nutrition) (5)
  - Vitamins and supplements (14)
- Nutrition and metabolism (33)
- Obstetrics and gynaecology (130)
- Oncology (399)
- Ophthalmology (172)
- Orthopaedics (102)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (3)
  - Child abuse (1)
  - Child and adolescent psychiatry (paedatrics) (5)
  - Child health
  - Childhood nutrition (paediatrics) (2)
  - Congenital disorders (78)
  - Developmental paediatrics (4)
  - Failure to thrive (5)
  - Infant health (11)
  - Infant nutrition (including breastfeeding)
  - Materno-fetal medicine (19)
  - Neonatal and paediatric intensive care (22)
  - Neonatal health (24)
  - SIDS
- Paediatrics (216)
- Palliative care
  - End of life decisions (palliative care) (3)
  - Hospice
  - Pain (palliative care) (1)
- Palliative care (10)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (156)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (12)
  - Medicines regulation
  - Toxicology (15)
  - Unwanted effects / adverse reactions (101)
- Pharmacology and therapeutics (155)
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders
  - Anxiety disorders (including OCD and PTSD) (3)
  - Child and adolescent psychiatry (4)
  - Delirium (7)
  - Drugs misuse (including addiction) (10)
  - Drugs: psychiatry (7)
  - Eating disorders (3)
  - Impulse control disorders (3)
  - Memory disorders (psychiatry) (11)
  - Mood disorders (including depression) (10)
  - Personality disorders
  - Psychiatry of old age (3)
  - Psychotherapy (3)
  - Psychotic disorders (incl schizophrenia) (14)
  - Sexual and gender disorders (2)
  - Sleep disorders
  - Somatoform disorders (2)
  - Suicide (psychiatry) (3)
- Psychiatry (69)
- Radiology (225)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (2)
  - Other rehabilitative therapies
  - Physiotherapy (14)
- Rehabilitation medicine (18)
- Renal medicine
  - Acute renal failure (40)
  - Chronic renal failure (18)
  - Dialysis (15)
  - Fluid electrolyte and acid-base disturbances (24)
  - Nephrotic syndrome (6)
  - Proteinurea (14)
  - Renal transplantation (12)
- Renal medicine (111)
- Respiratory medicine (162)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (4)
  - Connective tissue disease (32)
  - Degenerative joint disease (1)
  - Drugs: musculoskeletal and joint diseases (7)
  - Fibromyalgia (1)
  - Musculoskeletal syndromes (22)
  - Osteoarthritis (5)
  - Osteoporosis (3)
  - Rheumatoid arthritis (14)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (24)
  - Vascularitis (49)
- Rheumatology (162)
- Sexual health (26)
- Sports and exercise medicine (37)
- Surgery
  - Breast surgery (15)
  - Cardiothoracic surgery (52)
  - Gastrointestinal surgery (133)
  - General surgery (145)
  - Neurosurgery (60)
  - Oral and maxillofacial surgery (31)
  - Orthopaedic and trauma surgery (53)
  - Otolaryngology / ENT (55)
  - Plastic and reconstructive surgery (49)
  - Surgical oncology (64)
  - Transplantation (25)
  - Urological surgery (56)
  - Vascular surgery (59)
- Surgery (687)
- Urology (71)
NON-CLINICAL
- Communication
- Epidemiology
  - Clinical trials (epidemiology)
  - Epidemiologic studies
  - Population trends
  - Screening (epidemiology)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
  - End of life decisions (ethics)
  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
  - Informed consent
  - Research and publication ethics
  - Sexuality / gender
- Ethics (7)
- Ethnic studies (1)
- Health economics (2)
- Health informatics
  - Information management
  - Internet
  - IT
  - 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 (20)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (51)
- Occupational and environmental medicine (50)
- 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 (22)
- Smoking and tobacco (4)
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
Special collections

Log in using your username and password

Main menu

Log in using your username and password

You are here

Rare disease

Pages