Developmental paediatrocs

Beyond what clinicians see: missed diagnosis and misdiagnosis of a woman with autism spectrum disorder
Joana Isaac, Daniela Jeremias, Carolina Rocha Almeida, Rui Albuquerque

BMJ Case Reports CP Apr 2022, 15 (4) e246320; DOI: 10.1136/bcr-2021-246320
Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key
Sushmita Koduru Laxmi, Satya Ranjan Misra, Saurav Panda, Neeta Mohanty

BMJ Case Reports CP Feb 2022, 15 (2) e248673; DOI: 10.1136/bcr-2021-248673
Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis
Debaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik Dubey

BMJ Case Reports CP Feb 2022, 15 (2) e247790; DOI: 10.1136/bcr-2021-247790
Varied presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonate
Amruta Varma, Gaurav Vedprakash Mishra, Rajasbala Dhande, Bhushita B Lakhkar

BMJ Case Reports CP Jan 2022, 15 (1) e248024; DOI: 10.1136/bcr-2021-248024
Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 gene
Aishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar Narasimhan

BMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152
Scurvy mimicking as systemic lupus erythematosus
Narueporn Likhitweerawong, Nonglak Boonchooduang, Wipawee Morakote, Orawan Louthrenoo

BMJ Case Reports CP Jun 2021, 14 (6) e242958; DOI: 10.1136/bcr-2021-242958
Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background
Husain Abdulameer Abdali, Joseph Rivendra Duddu, Mohamed Jawad Mubarak, Almughirah Salahaldin Mohamed

BMJ Case Reports CP May 2021, 14 (5) e241906; DOI: 10.1136/bcr-2021-241906
Development of central precocious puberty following cannabinoid use for paediatric epilepsy: causal or coincidence?
Aditya Krishnan, Juliana Chizo Agwu, Chetana Kallappa, Rajesh Pandey

BMJ Case Reports CP Apr 2021, 14 (4) e239678; DOI: 10.1136/bcr-2020-239678
Idiopathic hypogonadotropic hypogonadism: a rare cause of primary amenorrhoea in adolescence—a review and update on diagnosis, management and advances in genetic understanding.
Grace Cham, Brooke O'Brien, Rebecca MN Kimble

BMJ Case Reports CP Apr 2021, 14 (4) e239495; DOI: 10.1136/bcr-2020-239495
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)
Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira Lal

BMJ Case Reports CP Mar 2021, 14 (3) e242586; DOI: 10.1136/bcr-2021-242586

Pages

CLINICAL
- Anaesthesia (174)
- Cardiovascular medicine (819)
- Complementary medicine (5)
- Dentistry and oral medicine (174)
- Dermatology (412)
- Diagnostics
  - Clinical diagnostic tests (43)
  - Radiology (diagnostics) (135)
  - Surgical diagnostic tests (21)
- Diagnostics
- Drugs and medicines (1512)
- Ear, nose and throat/otolaryngology (357)
- Emergency medicine
  - Disaster response
  - Poisoning (37)
  - Resuscitation (51)
  - Trauma (140)
- Emergency medicine (394)
- Endocrinology
  - Adrenal disorders (104)
  - Calcium and bone (77)
  - Diabetes (109)
  - Drugs: endocrine system (20)
  - Lipid disorders (23)
  - Metabolic disorders (79)
  - Pituitary disorders (47)
  - Thyroid disease (101)
- Endocrinology (536)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (779)
- Gastroenterology
  - Drugs: gastrointestinal system (40)
  - Endoscopy (144)
  - GI bleeding (91)
  - Infection (gastroenterology) (91)
  - Inflammatory bowel disease (61)
  - Liver disease (164)
  - Neurogastroenterology
  - Oesophagus (50)
  - Pancreas and biliary tract (85)
  - Pancreatitis (54)
  - Portal hypertension (16)
  - Small intestine (66)
  - Stomach and duodenum (76)
- General practice / family medicine (192)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (75)
  - Molecular genetics
- Genetics (234)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine) (2)
  - Long term care (17)
  - Psychogeriatrics
- Geriatric medicine (57)
- Haematology (incl blood transfusion) (451)
- HIV/AIDS (67)
- Immunology (including allergy) (54)
- Infectious diseases (1096)
- Intensive care
  - Adult intensive care (267)
  - Mechanical ventilation (19)
  - Neonatal intensive care (77)
  - Paediatric intensive care (56)
- Intensive care (478)
- Neurology
  - Brain stem / cerebellum (74)
  - Cerebral palsy (6)
  - Clinical neurophysiology (34)
  - Coma and raised intracranial pressure (27)
  - Cranial nerves (91)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (27)
  - Epilepsy and seizures (96)
  - Headache (including migraine) (9)
  - Hydrocephalus (18)
  - Infection (neurology) (142)
  - Motor neurone disease (12)
  - Movement disorders (other than Parkinsons) (51)
  - Multiple sclerosis (14)
  - Muscle disease (38)
  - Neuroimaging (339)
  - Neurological injury (66)
  - Neuromuscular disease (64)
  - Neurooncology (100)
  - Neuroophthalmology (8)
  - Pain (neurology) (43)
  - Parkinson's disease (5)
  - Peripheral nerve disease (78)
  - Sleep disorders (neurology) (5)
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  - Stroke (205)
  - Trauma CNS / PNS (36)
  - Variant Creutzfeld-Jakob Disease (2)
- Neurology (1328)
- Nursing (28)
- Nutrition and metabolism
  - Childhood nutrition (5)
  - Diet (20)
  - Malnutrition (20)
  - Obesity (nutrition) (15)
  - Vitamins and supplements (37)
- Nutrition and metabolism (97)
- Obstetrics and gynaecology (472)
- Oncology (1196)
- Ophthalmology (606)
- Orthopaedics (305)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (6)
  - Child abuse (5)
  - Child and adolescent psychiatry (paedatrics) (7)
  - Child health
  - Childhood nutrition (paediatrics) (6)
  - Congenital disorders (245)
  - Developmental paediatrics (4)
  - Failure to thrive (18)
  - Infant health (29)
  - Infant nutrition (including breastfeeding) (4)
  - Materno-fetal medicine (66)
  - Neonatal and paediatric intensive care (77)
  - Neonatal health (74)
  - SIDS
- Paediatrics (687)
- Palliative care
  - End of life decisions (palliative care) (13)
  - Hospice
  - Pain (palliative care) (8)
- Palliative care (35)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (463)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (32)
  - Medicines regulation
  - Toxicology (45)
  - Unwanted effects / adverse reactions (263)
- Pharmacology and therapeutics (409)
- Prison medicine (1)
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders (3)
  - Anxiety disorders (including OCD and PTSD) (13)
  - Child and adolescent psychiatry (8)
  - Delirium (16)
  - Drugs misuse (including addiction) (23)
  - Drugs: psychiatry (25)
  - Eating disorders (6)
  - Impulse control disorders (5)
  - Memory disorders (psychiatry) (21)
  - Mood disorders (including depression) (30)
  - Personality disorders (1)
  - Psychiatry of old age (6)
  - Psychotherapy (14)
  - Psychotic disorders (incl schizophrenia) (31)
  - Sexual and gender disorders (2)
  - Sleep disorders (2)
  - Somatoform disorders (6)
  - Suicide (psychiatry) (6)
- Psychiatry (187)
- Radiology (718)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (13)
  - Other rehabilitative therapies
  - Physiotherapy (34)
- Rehabilitation medicine (71)
- Renal medicine
  - Acute renal failure (93)
  - Chronic renal failure (39)
  - Dialysis (49)
  - Fluid electrolyte and acid-base disturbances (68)
  - Nephrotic syndrome (24)
  - Proteinurea (25)
  - Renal transplantation (37)
- Renal medicine (303)
- Respiratory medicine (508)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (30)
  - Connective tissue disease (80)
  - Degenerative joint disease (7)
  - Drugs: musculoskeletal and joint diseases (22)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (66)
  - Osteoarthritis (12)
  - Osteoporosis (11)
  - Rheumatoid arthritis (34)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (49)
  - Vascularitis (141)
- Rheumatology (473)
- Sexual health (89)
- Sports and exercise medicine (104)
- Surgery
  - Breast surgery (57)
  - Cardiothoracic surgery (173)
  - Gastrointestinal surgery (383)
  - General surgery (404)
  - Neurosurgery (180)
  - Oral and maxillofacial surgery (125)
  - Orthopaedic and trauma surgery (196)
  - Otolaryngology / ENT (214)
  - Plastic and reconstructive surgery (152)
  - Surgical oncology (195)
  - Transplantation (50)
  - Urological surgery (163)
  - Vascular surgery (166)
- Surgery (2146)
- Urology (222)
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 (13)
- 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 (88)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (176)
- Occupational and environmental medicine (111)
- 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 (57)
- Smoking and tobacco (15)
- Sociology (1)
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
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Developmental paediatrocs

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