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دسته بندی: اطفال ویرایش: 5 نویسندگان: Wayne Harris سری: ناشر: Elsevier سال نشر: 2018 تعداد صفحات: 934 زبان: English فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) حجم فایل: 84 مگابایت
در صورت تبدیل فایل کتاب examination PAEDIATRICS: A guide to paediatric training به فرمت های PDF، EPUB، AZW3، MOBI و یا DJVU می توانید به پشتیبان اطلاع دهید تا فایل مورد نظر را تبدیل نمایند.
توجه داشته باشید کتاب معاینه اطفال: راهنمای آموزش اطفال نسخه زبان اصلی می باشد و کتاب ترجمه شده به فارسی نمی باشد. وبسایت اینترنشنال لایبرری ارائه دهنده کتاب های زبان اصلی می باشد و هیچ گونه کتاب ترجمه شده یا نوشته شده به فارسی را ارائه نمی دهد.
Cover......Page 1
Inside Front Cover......Page 2
Examination Paediatrics......Page 3
examination Paediatrics A guide to paediatric training 5th edition......Page 5
Copyright Page......Page 6
Dedication......Page 11
Foreword to the fifth edition......Page 13
Preface......Page 14
Preface to the first edition......Page 15
Acknowledgements/ Special thanks …......Page 16
Reviewers......Page 17
Abbreviations......Page 19
Positive mindset......Page 37
Body language......Page 38
Dress and grooming......Page 39
Ability to summarise......Page 40
Preparation......Page 41
Equipment......Page 42
Obtaining the history......Page 44
Preparation to meet the examiners......Page 45
Details and history......Page 46
Remaining history......Page 47
Examination......Page 50
3 The Short Case......Page 52
Self-motivation......Page 55
Why do you do the things you do?......Page 56
Goal-setting......Page 57
Affirmation......Page 58
Self-talk......Page 59
Visualisation......Page 60
Mental toughness......Page 61
Failure......Page 62
Further reading......Page 63
Long case: Anorexia nervosa (AN)......Page 64
Background information......Page 65
Behavioural symptoms: the A to F of AN......Page 66
Physical symptoms of AN......Page 67
Past history of AN......Page 68
Investigations......Page 69
Management......Page 71
Indications for admission: paediatric and adolescent......Page 72
Indications for hospital admission: adult medical......Page 73
Food and eating......Page 74
Prognosis......Page 75
Introduction......Page 76
Background information......Page 77
The raine study......Page 81
The question of medication-induced cardiac effects......Page 82
Current symptoms......Page 83
Teacher report......Page 84
Vigilance testing......Page 85
Management......Page 86
School strategies (educational management principles)......Page 87
Short acting: dexamphetamine, methylphenidate (MPH)......Page 88
Long acting (8–12 hours): extended-release MPH tablets, long-acting MPH capsules, lisdexamfetamine dimesilate......Page 89
Other medications previously used: tricyclic antidepressants (TCAs; imipramine, desipramine), bupropion, venlafaxine......Page 90
Alternative treatments......Page 91
Prognosis......Page 92
Long case: Autism spectrum disorder (ASD)......Page 93
Background information......Page 94
Aetiology......Page 95
Current symptoms......Page 97
Current management......Page 99
Diagnosis of autism......Page 100
Diagnostic structured parental interviews......Page 101
Other......Page 102
Pharmacotherapeutic intervention......Page 103
3. Sleep disturbances......Page 104
Intervention......Page 105
Useful websites......Page 106
Background information......Page 107
Stages (mnemonic: DRUM)......Page 108
Congenital variant (Rolando variant)......Page 109
Epilepsy......Page 110
Scoliosis......Page 111
Constipation......Page 112
Screaming episodes......Page 113
Developmental history......Page 114
Important signs in examination of the child with RTT......Page 115
Sleep disorders......Page 116
Surgical interventions for gastrointestinal/feeding problems......Page 117
Short case: Suspected ADHD......Page 118
Eyes......Page 120
Developmental assessment......Page 121
Short case: Suspected ASD......Page 122
8. Skin......Page 123
Short case: Rett syndrome (RTT)......Page 124
5. Eyes (Gaze)......Page 126
11. Abdominal examination (Gas; swallowed air)......Page 127
Neuromuscular assessment......Page 128
Cyanotic congenital heart defects (CCHDs)......Page 130
Aortic disease: bicuspid aortic valve, aneurysmal aortic dilatation......Page 148
Diagnosis......Page 151
Current state of health......Page 152
1. General development, growth and nutrition......Page 153
Dental procedures and dental care......Page 154
Immunisation......Page 155
Recommendations regarding sports participation and exercise......Page 156
Travel......Page 157
Marfan syndrome (MFS)......Page 158
Management of MFS......Page 161
Noonan syndrome (NS)......Page 162
Management of NS......Page 167
22q11.2 deletion syndrome (22q11.2DS): conotruncal defects......Page 168
Williams syndrome (WS)......Page 171
Management of WS......Page 172
Supraventricular tachycardia (SVT)......Page 173
Long QT syndrome (LQTS)......Page 175
Brugada syndrome......Page 177
Dilated cardiomyopathy (DCM)—familial dilated cardiomyopathy (FDC) and idiopathic dilated cardiomyopathy (IDC)......Page 178
Familial hypertrophic cardiomyopathy (FHCM): also called hypertrophic obstructive cardiomyopathy (HOCM) and idiopathic hypertrophic subaortic stenosis (IHSS)......Page 179
Congestive cardiac failure (CCF)......Page 180
Cardiac transplantation......Page 181
Telemedicine......Page 183
Short case: The cardiovascular system......Page 184
CXR......Page 193
ECG......Page 195
QRS and Q wave abnormalities......Page 201
Reference......Page 202
Background information......Page 203
High-risk pregnancies: prenatal diagnosis of 21-OHD CAH......Page 204
Neonatal presentation of 21-OHD CAH at 1–4 weeks......Page 205
Gold standard of diagnosis......Page 206
Progress of the disease......Page 207
Management......Page 208
Other potential approaches to treatment......Page 209
Psychological support......Page 210
21-OHD CAH prenatal diagnosis and intervention......Page 211
Management of acute adrenocortical insufficiency (adrenal crisis)......Page 212
Long case: Type 1 diabetes mellitus (T1DM)......Page 213
Background information......Page 214
Diagnosis......Page 216
Progress of the disease......Page 217
Associated diseases......Page 218
Insulin therapy......Page 219
Short-acting (clear) insulins (neutral/regular/soluble insulin)......Page 220
The glycaemic index (GI)......Page 221
Hypoglycaemic episodes......Page 222
Insulin pumps......Page 223
Diet......Page 224
Glycosylated haemoglobin (HbA1c)......Page 225
Routine follow-up......Page 226
Retinopathy......Page 227
Neuropathy......Page 228
Requirement for psychological support......Page 229
Transition from paediatric to adult care......Page 231
Cerebral oedema (CO)......Page 232
Long case: Hypopituitarism......Page 233
Craniopharyngioma......Page 234
CHARGE syndrome......Page 235
Isolated pituitary hormone deficiencies......Page 236
Acquired (traumatic) brain injury......Page 237
Holoprosencephaly (HPE)......Page 238
Birth history......Page 239
Family history......Page 240
Glucocorticoid hormone replacement therapy......Page 241
Antidiuretic hormone (ADH) replacement therapy......Page 243
Induction of puberty in boys......Page 244
Short case: Disorders of sexual development (DSD) (ambiguous genitalia)......Page 245
Examination for ambiguous genitalia......Page 246
Testicular failure (undervirilised males)......Page 247
Examination......Page 248
Interpretation of the US:LS ratio and arm span......Page 251
Inspect from the side......Page 252
Aetiologies......Page 253
Alternative introduction to short stature—endocrine......Page 254
Measurements......Page 262
Manoeuvres......Page 263
Investigations......Page 264
Observation......Page 269
Examination......Page 272
Pubic hair stages (for females and males)......Page 275
Examination......Page 276
Additional information......Page 277
Short case: Delayed puberty......Page 281
Examination......Page 282
Blood tests......Page 283
Short case: Disorders of sexual development (DSD) (virilisation in post-neonatal period)......Page 288
Short case: Thyroid disorders......Page 293
Examination......Page 294
Short case: Thyroid disorders in infants......Page 296
Examination procedure......Page 300
Blood tests......Page 303
Reference......Page 304
Long case: Inflammatory bowel disease (IBD)......Page 305
Other relevant medical history......Page 306
Investigations......Page 307
Blood......Page 309
Imaging......Page 310
Other......Page 311
Induction therapy for CD: exclusive enteral nutrition (EEN), steroids, biologics......Page 312
CD maintenance: immunomodulators AZA, 6MP, MTX; biologics IFX, ADA......Page 314
Mild disease/distal colitis......Page 315
Severe disease/fulminant distal and extensive colitis/refractory disease......Page 316
Metabolic bone disease......Page 317
Extrahepatic biliary atresia (EHBA)......Page 318
Progressive familial intrahepatic cholestasis (PFIC) disorders......Page 319
Metabolic disease......Page 320
Chronic hepatitis......Page 322
Investigations......Page 323
Nutrition......Page 324
Portal hypertension, varices and variceal haemorrhage......Page 325
Other non-transplantation treatment options......Page 326
Indications for LTx......Page 327
Complications of LTx......Page 328
Hepatic vascular compromise (<10%)......Page 329
Long-term toxicities of calcineurin inhibitors (CNIs): CSA and tacrolimus......Page 330
Long case: Malabsorption/maldigestion......Page 331
Mechanisms of malabsorption......Page 332
Coeliac disease/gluten-sensitive enteropathy (GSE)......Page 333
Chronology of symptoms......Page 334
Examination......Page 335
Blood......Page 336
Short case: Gastrointestinal system......Page 337
Neurological assessment......Page 341
Short case: The abdomen......Page 342
Hepatomegaly......Page 343
Causes of hepatomegaly......Page 346
Hepatosplenomegaly......Page 347
Bilateral flank masses......Page 348
The infant......Page 349
The older child......Page 353
Investigations......Page 356
Short case: Nutritional assessment......Page 358
Short case: Failure to thrive......Page 364
Short case: Poor feeding......Page 365
Short case: Weight loss—older child/adolescent......Page 366
Long case: Down syndrome......Page 372
Past history......Page 373
Current state of health......Page 374
Social history......Page 375
Examination......Page 376
Ophthalmological disorders......Page 380
Obesity......Page 381
Haematological disorders (including leukaemia)......Page 382
Atlantoaxial instability (AAI)......Page 383
Unproven therapies......Page 384
Definitions......Page 385
Past treatment......Page 386
Social history......Page 387
1. Inspect from in front......Page 388
Completing the examination......Page 389
Cardiovascular disease......Page 392
Induction of puberty......Page 394
Thyroid disease and autoimmunity......Page 395
Education......Page 396
Examination......Page 397
Further measurements......Page 398
Inspect from in front......Page 399
Completing the examination......Page 400
Short case: Body asymmetry and hemihyperplasia......Page 406
Examination procedure......Page 409
Long case: Haemophilia......Page 412
Definitions......Page 413
Haemarthrosis......Page 414
Past history......Page 415
General inspection......Page 416
EHL FIX preparations......Page 417
Antifibrinolytics......Page 418
FVIII replacement guide......Page 419
Prevention of iatrogenic problems......Page 420
Joint involvement and synovectomy......Page 421
Primary prophylaxis......Page 422
Elective surgery and continuous infusion of replacement factors......Page 423
Immune tolerance induction (ITI)......Page 424
Immunisation......Page 425
Progress......Page 426
Basic defect......Page 427
Definitions......Page 428
Effects of α-thalassaemia......Page 429
Splenic sequestration crisis......Page 430
Cerebral infarction (cerebrovascular accident)......Page 431
Kidney involvement and hypertension......Page 432
Lung disease: acute chest syndrome (ACS) and pulmonary hypertension (PH)......Page 433
Erectile problems: priapism......Page 434
Haemolysis and anaemia (chronic)......Page 435
Aplastic crisis......Page 436
Past history......Page 437
General inspection......Page 438
Acute transfusion therapy—simple transfusion and exchange transfusion......Page 439
2. Chronic transfusion therapy—prevention of primary manifestations......Page 440
4. Avoiding known precipitants......Page 441
Related to chronic haemolytic anaemia......Page 442
Genetic counselling......Page 443
Haematopoietic stem cell transplantation (HSCT)—potential cure......Page 444
Transition to adult care and prognosis......Page 445
Genetics......Page 446
Iron overload (causing parenchymal organ toxicity)......Page 447
Endocrine failure (in order of frequency)......Page 448
Chronic haemolysis......Page 449
Specific complications......Page 450
Blood transfusion......Page 451
Chelation with desferrioxamine (DFO)......Page 452
Which transfusion regimen?......Page 453
Curative therapies: haematopoietic stem cell transplantation (HSCT)......Page 454
Hepatitis C......Page 455
Follow-up......Page 456
Summary......Page 457
Short case: The haematological system......Page 458
Extrinsic causes......Page 464
Short case: Thalassaemia......Page 465
Short case: Lymphadenopathy......Page 466
Causes of cervical lymphadenopathy......Page 468
Cervical lymphadenopathy......Page 469
Aspects of a lymph node/lump/swelling......Page 472
SPECTRAL aspects to a lump/swelling......Page 473
Differential diagnosis of cervical nodes......Page 474
Recurrent parotitis with sialectasis......Page 475
Important points......Page 476
Inguinal lymphadenopathy......Page 477
Examination procedure......Page 478
Investigating lymphadenopathy......Page 479
Short case: The neonatal examination......Page 480
Inspect: growth, colour, respirations, posture, movements, cry......Page 481
Head, neck and upper limbs......Page 482
Abdomen and genitalia......Page 483
Nervous system and spine......Page 484
Skin......Page 485
Complications of prematurity......Page 486
Short case: Vascular birthmarks......Page 487
Long case: Chronic kidney disease (CKD)......Page 490
Aetiology......Page 491
Glomerular filtration rate (GFR) and clinical correlates......Page 492
Assessment of rate of evolution of renal failure......Page 493
Social history......Page 494
Management......Page 495
Treatment of acute hyperkalaemia......Page 496
Hypertension......Page 497
Acute hypertensive crisis......Page 498
CKD-mineral and bone disorder (CKD-MBD)......Page 499
Vitamin D supplementation......Page 500
Stature (growth)......Page 501
Intake: nutrition......Page 502
Recombinant human erythropoietin (r-HuEPO)......Page 503
Dialysis......Page 504
Renal transplantation (RTx)......Page 506
Antiproliferatives......Page 507
Biological agents......Page 508
Management......Page 509
Recurrence rates in transplants (histological recurrence)......Page 510
Cardiovascular disease (CVD)......Page 511
Long case: Nephrotic syndrome......Page 512
Definition......Page 513
Minimal change disease (MCD)......Page 514
Infection......Page 515
Thrombosis and embolism......Page 516
End-stage kidney disease (ESKD)......Page 517
Urine......Page 518
1. Corticosteroids......Page 519
2. (a) Corticosteroid-sparing agents/other drugs for SSNS......Page 520
5. Severe oedema (anasarca)......Page 522
Short case: Renal examination......Page 523
Short case: Hypertension......Page 524
Short case: Oedema......Page 533
Classification......Page 535
Causes......Page 536
Diagnostic assessment......Page 537
Current symptoms/functioning......Page 539
Social history......Page 540
Demonstration of signs of CP......Page 541
Management......Page 542
Physiotherapy, occupational therapy, splints/orthoses......Page 543
Botulinum toxin A (BTX-A)......Page 544
Selective dorsal rhizotomy (SDR)......Page 545
Other orthopaedic procedures......Page 546
Respiratory problems......Page 547
Seizures......Page 548
Pain......Page 549
Prognosis......Page 550
Background information: genetics of DMD......Page 551
Molecular tests for DMD......Page 552
Recent advances......Page 553
Past history......Page 554
Gait......Page 555
Management......Page 557
Corticosteroids......Page 558
Occupational therapy details......Page 559
Scoliosis management......Page 560
Restrictive lung disease (RLD) and non-invasive ventilation (NIV)......Page 561
Cardiac disease......Page 563
Anaesthetic issues......Page 564
Psychosocial......Page 565
Genetic counselling......Page 566
Background information......Page 567
Neonatal period......Page 569
Infancy......Page 570
Childhood......Page 572
Adolescence–adult......Page 576
SCN1A-related seizure disorders......Page 578
Status epilepticus (SE)......Page 579
Ketogenic diet (KD)......Page 580
History......Page 581
Electroencephalogram (EEG)......Page 582
Imaging: functional......Page 583
Are there unrecognised precipitating factors?......Page 584
Strategies to avoid abrasions, bruising or cuts......Page 585
Genetic counselling......Page 586
Are any of the newer AEDs likely to be of use here?......Page 587
Eslicarbazepine acetate (ESL)......Page 588
Lamotrigine (LTG)......Page 589
Topiramate (TPM)......Page 590
Surgical treatment......Page 591
At home......Page 592
Parents......Page 593
Long case: Spina bifida (SB)/myelomeningocele (MMC)......Page 594
Current history......Page 595
Examination......Page 596
Bladder and renal function......Page 597
Bowel......Page 598
Hydrocephalus......Page 599
The Arnold–Chiari II malformation, syringomyelia and scoliosis......Page 600
Neurological disease progression in adolescence......Page 601
Skin......Page 602
Social issues......Page 603
Young men with MMC......Page 604
Prognosis......Page 605
Age-related presentation......Page 606
Skin manifestations: café-au-lait macules, freckling, neurofibromas......Page 607
Hypertension and vasculopathy......Page 608
Tumours......Page 609
Current symptoms......Page 610
Past history......Page 611
Skin: discrete neurofibromas and plexiform neurofibromas......Page 612
Musculoskeletal issues......Page 613
Background......Page 614
Classification......Page 615
Seizures......Page 616
Cognitive, learning, behavioural and psychosocial aspects......Page 617
Other anomalies: endocrine; ears, nose and throat (ENT); OSA......Page 618
Current symptoms......Page 619
Examination......Page 620
Cognitive, learning and behavioural aspects......Page 621
Basic defect......Page 622
Diagnosis......Page 623
Age-related manifestations......Page 624
CNS: cerebral structure, tumours, tubers and terminology......Page 625
Pulmonary......Page 626
Current symptoms......Page 627
Understanding of disease......Page 628
Epilepsy......Page 629
Pulmonary manifestations......Page 630
Short case: Developmental assessment......Page 631
Ectopia lentis......Page 634
Squint (strabismus)......Page 635
Procedure......Page 636
Stages of visual development (in relation to clinically applicable testing)......Page 639
Short case: Eye examination—nystagmus......Page 640
Examination procedure......Page 641
Short case: Eye examination—proptosis and exophthalmos......Page 642
Examination procedure......Page 644
Short case: Motor cranial nerves......Page 646
Inspection......Page 648
Power......Page 649
Summary......Page 650
Short case: Gait......Page 652
Tone......Page 656
Coordination......Page 657
Short case: Cerebellar function......Page 658
Background information......Page 659
Infant......Page 660
Older child......Page 663
Microencephaly......Page 664
Examination......Page 665
Examination procedure for craniosynostosis......Page 669
Recurrent seizures......Page 670
Recent acute seizure......Page 671
Short case: Facial weakness......Page 674
Short case: Floppy infant......Page 675
Short case: Hemiplegia......Page 683
Gait (older child) or gross motor assessment (infant)......Page 684
Head......Page 685
Examination......Page 686
Blood......Page 688
Blood......Page 689
Background information......Page 690
Examination......Page 691
Short case: Neurofibromatosis type 1 (NF1)......Page 693
Short case: Sturge-Weber syndrome (SWS)......Page 694
Short case: Tuberous sclerosis complex (TSC)......Page 695
Short case: Neuromuscular assessment......Page 697
Short case: Scoliosis......Page 698
Short case: Spina bifida (SB)/Myelomeningocele (MMC)......Page 701
Examination......Page 702
Short case: Ataxia......Page 705
Examination procedure......Page 707
Reference......Page 709
Long case: Oncology......Page 710
Before diagnosis......Page 712
Other......Page 713
Growth and development......Page 714
Bone health and low bone mineral density (BMD)......Page 715
Schooling......Page 716
The child on chemotherapy......Page 717
Immunisation with HSCT......Page 718
Febrile neutropenic episodes......Page 719
Haematopoietic stem cell transplantation (HSCT)......Page 720
HSCT: bone marrow transplantation (BMTx)......Page 721
Therapeutic modifications: risk-adapted therapy......Page 722
The dying child......Page 723
SHORT case: Late effects of oncology treatment......Page 724
Long case: Asthma......Page 728
Pattern of episodes......Page 729
Understanding of disease......Page 730
Peak expiratory flow rate (PEFR) measurements and spirometry......Page 731
Acute......Page 732
1. Modification/avoidance of precipitants......Page 733
4. Leukotriene modifiers (LTMs)......Page 734
5. Long-acting beta-2 agonists (LABAs): salmeterol xinafoate, eformoterol fumarate dihydrate......Page 735
Smoking......Page 736
Pressurised metered dose inhalers (pMDIs)......Page 737
Are there any upper airway issues?......Page 738
Is there a problem with adherence to treatment?......Page 739
Useful websites......Page 740
Long case: NICU graduate—Chronic lung disease/bronchopulmonary dysplasia (CLD/BPD)......Page 741
Current status......Page 743
Examination......Page 744
Nutrition......Page 746
Avoidance of tobacco smoke......Page 747
Prognosis......Page 748
Genetics......Page 749
Presenting complaint......Page 750
Other systems......Page 751
Disease impact on siblings......Page 752
Examination......Page 753
Sweat testing......Page 756
Hospitalisation......Page 757
CF microbiology: ‘old’ established and ‘new’ emerging pathogens......Page 758
Antibiotics......Page 759
Chest physiotherapy: airway clearance techniques......Page 760
Disease-modifying therapy: CFTR modulators......Page 761
Allergic bronchopulmonary aspergillosis (ABPA)......Page 762
Lung transplantation......Page 763
End-of-life care......Page 765
Sinonasal disease......Page 766
Nutrition......Page 767
Other gastrointestinal problems......Page 768
Rectal prolapse......Page 769
Small bowel bacterial overgrowth (SBBOG)......Page 770
Fibrosing colonopathy......Page 771
Cystic fibrosis-related bone disease (cfr-bd)......Page 772
Adolescence and fertility......Page 773
Is modification of current medical treatments warranted?......Page 774
Prognosis......Page 775
Background information......Page 776
Diagnosis of OSA......Page 777
Symptoms......Page 778
Management......Page 779
Respiratory and cardiovascular examinations......Page 780
Surgical procedures......Page 781
Short case: The respiratory system......Page 782
Short case: Stridor......Page 786
Short case: Chest X-rays......Page 788
Reference......Page 790
Long case: Juvenile idiopathic arthritis (JIA)......Page 791
Persistent oligoarthritis......Page 792
Systemic JIA (sJIA)......Page 793
Enthesitis-related arthritis (ERA)......Page 794
Presenting complaint......Page 795
Social history......Page 797
Investigations......Page 798
Orthopantomogram (OPG)......Page 799
Systemic corticosteroids......Page 800
Methotrexate (MTX)......Page 801
Biological disease-modifying anti-rheumatic drugs (bDMARDs)......Page 802
Etanercept (ETN) (recombinant p75 soluble tumour necrosis factor receptor [sTNFR]: Fc fusion protein)......Page 803
Rituximab (RTX) (chimeric monoclonal antibody targeting cells with CD20 surface markers)—B-cell targeting......Page 804
Sequence of drugs/agents......Page 805
4. Prevent deformities......Page 806
Occupational therapy......Page 807
Prognosis......Page 808
Background......Page 809
Current symptoms......Page 812
Examination......Page 813
First-line treatment......Page 816
Methotrexate (MTX)......Page 817
Azathioprine (AZA)......Page 818
Hydroxychloroquine (HCQ)......Page 819
Calcinosis cutis (CC)......Page 820
Prognosis......Page 821
Background information......Page 822
Management......Page 823
Joints and bones......Page 824
Diagnosis......Page 825
Simple screening tests......Page 826
Imaging......Page 827
General measures......Page 828
Corticosteroids (CS)......Page 829
Disease-modifying anti-rheumatic drugs (DMARDs)......Page 830
Life-threatening systemic disease......Page 831
Kidneys......Page 832
Neuropsychiatric SLE (NP-SLE)/CNS lupus......Page 833
Gastrointestinal, liver and spleen involvement......Page 834
Prognosis......Page 835
Examination......Page 836
Hands and wrists......Page 838
Jaw and neck......Page 839
Hips......Page 840
References......Page 841
Medical Books......Page 842
Other paediatric journals......Page 843
ADHD......Page 844
ASD......Page 845
RTT......Page 846
RTT......Page 847
ADHD......Page 848
RTT......Page 849
Marfan syndrome......Page 850
Costello syndome: a RASopathy......Page 851
Williams syndrome......Page 852
Indications for heart transplantation......Page 853
Cerebral oedema (CO) in T1DM......Page 854
Endocrinology......Page 855
Chronic liver disease: metabolic causes......Page 857
Causes of hepatomegaly......Page 858
Causes of splenomegaly......Page 859
Beckwith-Wiedemann syndrome (BWS)......Page 860
Proteus syndrome......Page 861
Other aspects of SCA......Page 862
Order for the haematological examination......Page 863
Lymphadenopathy (cervical [Cx] or generalised *)......Page 864
Prompt lymph node biopsy indications......Page 865
Spectrum of differential diagnoses of lumps/swelling......Page 866
Complications of prematurity......Page 867
The management of CKD......Page 868
Main agents that can claim success in NS......Page 869
Seizures: ILAE groupings......Page 870
Seizures: ILAE groupings......Page 871
Panayiotopoulos syndrome......Page 872
Levetiracetam (LEV)......Page 873
Diagnostic criteria for NF1......Page 874
Features of SWS......Page 875
TSC diagnostic criteria......Page 876
Unilateral nystagmus......Page 877
Thyroid eye disease (TED)......Page 878
Scoliosis......Page 879
Ataxia-telangiectasia (AT) features......Page 880
Mitochondrial disorder features......Page 881
Respiratory: causes of protracted nausea in cystic fibrosis......Page 882
Selected causes of obstructive sleep apnoea......Page 883
JDM: Drugs used other than steroids......Page 884
Tacrolmus......Page 885
Index......Page 886