Rare disease

VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome
Karun Neupane, Apoorva Jayarangaiah, Yan Zhang, Abishek Kumar

BMJ Case Reports CP Dec 2022, 15 (12) e251089; DOI: 10.1136/bcr-2022-251089
Spontaneous and simultaneous rupture of both Achilles tendons in a haemodialysis patient
Karim Masmoudi, Maher Khlifi, Kaouther Jameli, Hatem Jellali

BMJ Case Reports CP Dec 2022, 15 (12) e249251; DOI: 10.1136/bcr-2022-249251
Intraductal tubulopapillary neoplasm
Catherine Yu, Julie Lokan, Louise Jackett, Mehrdad Nikfarjam, Christopher Mills

BMJ Case Reports CP Dec 2022, 15 (12) e246398; DOI: 10.1136/bcr-2021-246398
Mediterranean spotted fever with multiorgan involvement
Kimberly Davis, Ahmad Ahmado, Clare E Warrell, Louise O Downs, Jenna Furneaux, Karthiga Sithamparanathan

BMJ Case Reports CP Dec 2022, 15 (12) e249426; DOI: 10.1136/bcr-2022-249426
An Unusual cause of Endocarditis
Rhys Watkins, Carl Marincowitz, Thomas Locke, Steven Hunter

BMJ Case Reports CP Dec 2022, 15 (12) e249214; DOI: 10.1136/bcr-2022-249214
Laparoscopic choledochoscopy for choledocholithiasis is possible in the anatomical anomaly of left gallbladder
Peter Kaldas, Su Kah Goh, Laurence Weinberg, Russell Hodgson

BMJ Case Reports CP Dec 2022, 15 (12) e251278; DOI: 10.1136/bcr-2022-251278
Parotid gland keratocystoma: a rare diagnosis of a neck lump
Abethan Anparasan, Stanislau Makaranka, Paul Brown, Panagiotis Asimakopoulos

BMJ Case Reports CP Dec 2022, 15 (12) e252039; DOI: 10.1136/bcr-2022-252039
Painful left bundle branch block syndrome successfully treated by His-bundle pacing
Ali Al-Shammari, Tim Edwards, Ghadah Al-Sharbatee

BMJ Case Reports CP Dec 2022, 15 (12) e251071; DOI: 10.1136/bcr-2022-251071
Vascular malformation rupture in a patient affected by Costello syndrome
Francesca Barbieri, Ignacio Fernando Hall, Leonardo Elia, Efrem Civilini

BMJ Case Reports CP Dec 2022, 15 (12) e250948; DOI: 10.1136/bcr-2022-250948
Haemophagocytic lymphohistiocytosis (HLH) in an adult following treatment with trimethoprim/sulfamethoxazole
Adam Zimilover, Isaac Huml

BMJ Case Reports CP Dec 2022, 15 (12) e251255; DOI: 10.1136/bcr-2022-251255

Pages

CLINICAL
- Anaesthesia (187)
- Cardiovascular medicine (889)
- Complementary medicine (6)
- Dentistry and oral medicine (191)
- Dermatology (462)
- Diagnostics
  - Clinical diagnostic tests (47)
  - Radiology (diagnostics) (143)
  - Surgical diagnostic tests (21)
- Diagnostics
- Drugs and medicines (1666)
- Ear, nose and throat/otolaryngology (395)
- Emergency medicine
  - Disaster response
  - Poisoning (45)
  - Resuscitation (55)
  - Trauma (155)
- Emergency medicine (439)
- Endocrinology
  - Adrenal disorders (114)
  - Calcium and bone (92)
  - Diabetes (120)
  - Drugs: endocrine system (25)
  - Lipid disorders (25)
  - Metabolic disorders (86)
  - Pituitary disorders (52)
  - Thyroid disease (114)
- Endocrinology (599)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (850)
- Gastroenterology
  - Drugs: gastrointestinal system (42)
  - Endoscopy (155)
  - GI bleeding (99)
  - Infection (gastroenterology) (104)
  - Inflammatory bowel disease (69)
  - Liver disease (177)
  - Neurogastroenterology
  - Oesophagus (53)
  - Pancreas and biliary tract (91)
  - Pancreatitis (59)
  - Portal hypertension (16)
  - Small intestine (73)
  - Stomach and duodenum (82)
- General practice / family medicine (214)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (84)
  - Molecular genetics
- Genetics (262)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine) (2)
  - Long term care (18)
  - Psychogeriatrics
- Geriatric medicine (60)
- Haematology (incl blood transfusion) (489)
- HIV/AIDS (73)
- Immunology (including allergy) (54)
- Infectious diseases (1211)
- Intensive care
  - Adult intensive care (286)
  - Mechanical ventilation (19)
  - Neonatal intensive care (81)
  - Paediatric intensive care (66)
- Intensive care (515)
- Neurology
  - Brain stem / cerebellum (81)
  - Cerebral palsy (6)
  - Clinical neurophysiology (36)
  - Coma and raised intracranial pressure (27)
  - Cranial nerves (101)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (30)
  - Epilepsy and seizures (109)
  - Headache (including migraine) (9)
  - Hydrocephalus (19)
  - Infection (neurology) (160)
  - Motor neurone disease (13)
  - Movement disorders (other than Parkinsons) (59)
  - Multiple sclerosis (18)
  - Muscle disease (40)
  - Neuroimaging (377)
  - Neurological injury (70)
  - Neuromuscular disease (74)
  - Neurooncology (111)
  - Neuroophthalmology (8)
  - Pain (neurology) (46)
  - Parkinson's disease (6)
  - Peripheral nerve disease (82)
  - Sleep disorders (neurology) (7)
  - Spinal cord (98)
  - Stroke (224)
  - Trauma CNS / PNS (39)
  - Variant Creutzfeld-Jakob Disease (2)
- Neurology (1464)
- Nursing (34)
- Nutrition and metabolism
  - Childhood nutrition (5)
  - Diet (20)
  - Malnutrition (21)
  - Obesity (nutrition) (17)
  - Vitamins and supplements (43)
- Nutrition and metabolism (109)
- Obstetrics and gynaecology (518)
- Oncology (1344)
- Ophthalmology (679)
- Orthopaedics (331)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (6)
  - Child abuse (6)
  - Child and adolescent psychiatry (paedatrics) (9)
  - Child health
  - Childhood nutrition (paediatrics) (6)
  - Congenital disorders (263)
  - Developmental paediatrics (4)
  - Failure to thrive (19)
  - Infant health (31)
  - Infant nutrition (including breastfeeding) (5)
  - Materno-fetal medicine (72)
  - Neonatal and paediatric intensive care (88)
  - Neonatal health (85)
  - SIDS
- Paediatrics (760)
- Palliative care
  - End of life decisions (palliative care) (14)
  - Hospice
  - Pain (palliative care) (8)
- Palliative care (36)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (523)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (32)
  - Medicines regulation
  - Toxicology (50)
  - Unwanted effects / adverse reactions (295)
- Pharmacology and therapeutics (452)
- Prison medicine (1)
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders (4)
  - Anxiety disorders (including OCD and PTSD) (15)
  - Child and adolescent psychiatry (9)
  - Delirium (17)
  - Drugs misuse (including addiction) (25)
  - Drugs: psychiatry (29)
  - Eating disorders (7)
  - Impulse control disorders (6)
  - Memory disorders (psychiatry) (21)
  - Mood disorders (including depression) (30)
  - Personality disorders (1)
  - Psychiatry of old age (7)
  - Psychotherapy (14)
  - Psychotic disorders (incl schizophrenia) (35)
  - Sexual and gender disorders (2)
  - Sleep disorders (2)
  - Somatoform disorders (6)
  - Suicide (psychiatry) (7)
- Psychiatry (200)
- Radiology (783)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (15)
  - Other rehabilitative therapies
  - Physiotherapy (36)
- Rehabilitation medicine (74)
- Renal medicine
  - Acute renal failure (99)
  - Chronic renal failure (43)
  - Dialysis (53)
  - Fluid electrolyte and acid-base disturbances (72)
  - Nephrotic syndrome (27)
  - Proteinurea (28)
  - Renal transplantation (44)
- Renal medicine (332)
- Respiratory medicine (565)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (33)
  - Connective tissue disease (93)
  - Degenerative joint disease (8)
  - Drugs: musculoskeletal and joint diseases (25)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (70)
  - Osteoarthritis (13)
  - Osteoporosis (11)
  - Rheumatoid arthritis (37)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (56)
  - Vascularitis (152)
- Rheumatology (524)
- Sexual health (99)
- Sports and exercise medicine (114)
- Surgery
  - Breast surgery (62)
  - Cardiothoracic surgery (193)
  - Gastrointestinal surgery (415)
  - General surgery (443)
  - Neurosurgery (197)
  - Oral and maxillofacial surgery (132)
  - Orthopaedic and trauma surgery (219)
  - Otolaryngology / ENT (229)
  - Plastic and reconstructive surgery (165)
  - Surgical oncology (219)
  - Transplantation (56)
  - Urological surgery (175)
  - Vascular surgery (179)
- Surgery (2346)
- Urology (246)
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 (16)
- Ethnic studies (2)
- Health economics (7)
- 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 (101)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (197)
- Occupational and environmental medicine (131)
- 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) (5)
  - 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 (65)
- Smoking and tobacco (15)
- Sociology (1)
- 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