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دانلود کتاب Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant

دانلود کتاب طب نوزادان- پری ناتال فناروف و مارتین: بیماری های جنین و نوزاد، جلد نهم جلد 1-2

Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant

مشخصات کتاب

Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant

ویرایش: 9 
نویسندگان: , ,   
سری:  
ISBN (شابک) : 0323065457, 9780323065450 
ناشر: Mosby 
سال نشر: 2010 
تعداد صفحات: 1935 
زبان: English 
فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) 
حجم فایل: 144 مگابایت 

قیمت کتاب (تومان) : 54,000



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توضیحاتی در مورد کتاب طب نوزادان- پری ناتال فناروف و مارتین: بیماری های جنین و نوزاد، جلد نهم جلد 1-2

Fanaroff and Martin's Neonatal-Perinatal Medicine همه چیزهایی را که برای بهبود کیفیت زندگی و نتایج بلندمدت بیماران خود نیاز دارید را پوشش می دهد. دکتر ریچارد جی. مارتین، آوروی آ. فانارف، و میشل سی. والش، همراه با یک تیم چند رشته‌ای متشکل از همکاران، شما را از طریق پیشرفت‌های گسترده در تشخیص و درمان جنین مادر و نوزاد راهنمایی می‌کنند. نسخه نهم کاملاً به روز شده شما را در مورد نوزاد نارس دیررس، منشأ جنینی بیماری بزرگسالان، کم خونی نوزادان، اختلالات ژنتیکی و موارد دیگر به‌صورت چاپی و آنلاین در جریان می‌گذارد. از طریق تمرکز دوگانه بر نوزادان و پریناتولوژی، راهنمایی جامع در مورد درمان بیماران دریافت کنید. جزئیات و جزئیات را در بیش از 800 تصویر ببینید که اختلالات را در محیط بالینی به تصویر می‌کشند و اطلاعات پیچیده را توضیح می‌دهند. اطلاعات مورد نیاز خود را به راحتی با نمایه سازی در هر دو جلد پیدا کنید که دسترسی سریع به راهنمایی های خاص را فراهم می کند. به محتویات کاملاً قابل جستجوی کتاب به صورت آنلاین در expertconsult.com به همراه یک کتابخانه تصویری قابل دانلود دسترسی داشته باشید. به لطف بخش کاملاً جدید در مورد این موضوع، مشکلات ژنتیکی را زود تشخیص دهید و نگرانی های والدین را راهنمایی کنید. مشکلات سلامتی مرتبط با زایمان زودرس را از طریق فصل جدیدی در مورد نوزاد نارس دیررس حل کنید. منشاء جنینی بیماری بزرگسالان را از طریق فصل جدیدی که بر شرایطی که در رحم منشا می‌گیرند تمرکز دارد، درک کنید. در جریان تحولات و تحقیقات پیرامون کم خونی نوزادان از فصل کاملاً جدید در مورد خون و سیستم خونساز باشید. دیدگاه های جهانی بیشتر و بهترین شیوه ها را از تعداد فزاینده ای از مشارکت های بین المللی در این نسخه به دست آورید. با مشاوره بر اساس بهترین شواهد موجود که طیف وسیعی از پریناتولوژی و نوزادان را پوشش می دهد، از نظر بالینی پیشرفت کنید.


توضیحاتی درمورد کتاب به خارجی

Fanaroff and Martin's Neonatal-Perinatal Medicine covers everything you need to improve the quality of life and long-term outcomes of your patients. Drs. Richard J. Martin, Avroy A. Fanaroff, and Michele C. Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. The completely updated 9th edition keeps you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more.in print and online. Get comprehensive guidance on treating patients through a dual focus on neonatology and perinatology. See nuances and details in over 800 illustrations that depict disorders in the clinical setting and explain complex information. Find the information you need easily with indexing in both volumes that provides quick access to specific guidance. Access the fully searchable contents of the book online at expertconsult.com, along with a downloadable image library. Spot genetic problems early and advise parents of concerns thanks to completely new section on this topic. Tackle the health problems associated with preterm births through a new chapter on The Late Preterm Infant. Understand the fetal origins of adult disease through a new chapter that focuses on conditions that originate in the womb. Stay current on the developments and research surrounding neonatal anemia from the entirely new chapter on Blood and Hematopoietic System highlights. Obtain more global perspectives and best practices from an increased number of international contributions in this edition. Advance clinically with advice based on the best-available evidence covering the wide spectrum of both perinatology and neonatology



فهرست مطالب

Cover......Page 1
ISBN: 9780323065450......Page 2
Dedication......Page 3
Contributors......Page 8
Preface......Page 18
SECTION I - The Field of Neonatal-Perinatal Medicine......Page 20
Perinatal pioneers......Page 22
High-risk fetus and perinatal obstetrics......Page 23
Midwives and perinatal care......Page 24
Neonatal resuscitation: tales of heroism and desperation......Page 25
Saving infants to man the army......Page 26
Incubators, baby shows, and origins of neonatal intensive care units.......Page 27
Ventilatory care: “extended resuscitation”......Page 29
Tools and supplies for neonatal intensive care units......Page 31
Controlled clinical trials, evidence-based medicine, and research networks......Page 33
Some famous high-risk infants......Page 34
References......Page 35
Overview......Page 38
Infant mortality......Page 39
Preterm infants, infants with low birthweight, and infants who are small for gestational age......Page 40
Alarming increases in infants with low birthweight......Page 41
Legal and ethical issues......Page 42
Historical perspective......Page 43
Current recommendations on organization......Page 44
Regional perinatal center......Page 46
Problems......Page 48
Measurements of effectiveness of care organization......Page 49
References......Page 50
Medical ethics in neonatal care......Page 52
Beneficence......Page 53
Justice......Page 54
Communication with parents......Page 55
Family-centered neonatal intensive care......Page 56
Refusal of treatment during pregnancy......Page 57
To provide data on which decisions can be based......Page 58
Withholding and withdrawing life-sustaining medical treatment in the neonatal intensive care unit......Page 59
Collaborative, procedural framework for end-of-life decision making......Page 60
Palliative care in the neonatal intensive care unit......Page 61
Conflict resolution when consensus cannot be reached......Page 62
Ethics of research in the neonatal intensive care unit......Page 63
Ethical responsibilities of neonatal physicians......Page 64
References......Page 65
Disclaimer......Page 68
General structure of the federal and state court systems......Page 69
Residents and fellows......Page 70
Malpractice......Page 71
Prenatal consultation......Page 72
Role of the expert witness......Page 73
Causation......Page 74
Wrongful birth......Page 75
Strategies for avoiding tort litigation......Page 76
Live birth......Page 77
Handicapped newborns......Page 78
Baby jane doe......Page 79
Sun hudson......Page 80
Miller case......Page 81
Conclusions......Page 82
Summary......Page 83
References......Page 84
The case for improvement......Page 86
Data for improvement......Page 87
Identifiers......Page 88
Processes......Page 89
Risk adjusters......Page 90
Secondary data......Page 93
Costs and resources......Page 100
Role of networks......Page 101
Work of quality improvement......Page 102
Four key habits for improvement......Page 104
Patient safety......Page 105
References......Page 106
Teaching versus learning......Page 109
Simulation-based learning......Page 110
The evidence behind simulation......Page 112
The future of simulation in neonatal-perinatal medicine......Page 114
References......Page 115
Asking a focused clinical question......Page 118
Reviews......Page 119
Critically appraising evidence for its validity......Page 120
Applying the results to patient care......Page 121
Promoting evidence-based clinical practice......Page 122
References......Page 123
Alma-ata declaration and other global health initiatives......Page 126
Major causes of global neonatal mortality......Page 127
War conflicts and infant mortality......Page 129
Birth asphyxia......Page 131
Staffing......Page 132
Care of the mother and the newborn in the community......Page 133
Management of hypothermia......Page 134
Care of an infant not crying at birth......Page 135
Breast feeding......Page 136
Home visits by the health care worker......Page 137
Role of the traditional birth attendant and community health worker......Page 138
Social engineering......Page 139
Improvements in neonatal care practices......Page 140
Relevance of newer technologies in developing countries......Page 141
Use of nasal continuous positive airway pressure......Page 142
Establishment of tertiary care units in developing countries......Page 143
References......Page 144
SECTION II - The Fetus......Page 146
Advanced maternal age......Page 148
Aneuploidy......Page 149
Single-gene disorders......Page 150
Advanced paternal age......Page 151
Mitochondrial inheritance......Page 152
Epigenetics and uniparental disomy......Page 153
Teratogens......Page 154
Diagnostic imaging......Page 156
First-trimester screening......Page 157
Screening for hemoglobinopathies......Page 158
Diagnostic modalities......Page 159
Chorionic villus sampling......Page 160
Preimplantation genetic diagnosis......Page 161
Assisted reproductive technologies......Page 162
Genetic evaluation and counseling......Page 163
References......Page 164
Fetal imaging techniques......Page 166
Bioeffects and safety......Page 168
Ethical considerations......Page 169
Assisted reproduction......Page 170
Multiple gestation......Page 171
Pregnancy evaluation......Page 172
Placental location......Page 174
Cervical length and pelvic structures......Page 175
Doppler ultrasound......Page 176
Procedures......Page 177
Fetal ventriculomegaly......Page 178
Ventriculomegaly......Page 179
Dandy-walker cyst......Page 180
Head and neck......Page 181
Gastrointestinal tract......Page 182
Genitourinary tract......Page 183
Musculoskeletal system......Page 188
Summary......Page 190
References......Page 192
Physiologic basis for antenatal surveillance......Page 194
Contraction stress test......Page 195
Doppler flow velocimetry......Page 196
References......Page 198
Fetal heart rate variability......Page 200
Decelerations......Page 201
Category iii......Page 203
Evaluation and management of nonreassuring fetal heart rate patterns......Page 204
Summary......Page 205
References......Page 206
Hydronephrosis......Page 208
Fetal hydrothorax......Page 210
Miscellaneous procedures and other indications for shunts......Page 212
Fetal arrhythmias......Page 213
Diagnostic fetoscopy......Page 214
Diaphragmatic hernia (see chapter 44)......Page 215
Monochorionic twins discordant for anomaly......Page 217
Twin-twin transfusion syndrome......Page 218
Open fetal surgery......Page 220
Exit procedure......Page 224
Fetal anesthesia considerations......Page 225
References......Page 228
Exposures affecting the epigenome......Page 234
Paternal effects......Page 235
Lead......Page 237
Diet......Page 238
Heat......Page 240
Fetal distribution......Page 241
Fetal metabolism......Page 242
Spectrum of outcomes......Page 243
Conclusion......Page 244
References......Page 245
Additional reading......Page 247
Fetal origins of adult disease concept......Page 248
Postnatal and early childhood growth......Page 249
Mismatch concept......Page 250
Pathophysiology......Page 251
Cancer......Page 252
Psychosocial aspects......Page 253
Transgenerational persistence of phenotypic changes......Page 254
Epigenetics......Page 255
Translation to neonatology......Page 256
References......Page 257
SECTION III - Pregnancy Disorders and Their Impact on the Fetus......Page 262
Fetal growth and body composition......Page 264
Fetal metabolism......Page 268
Epidemiology of low birthweight......Page 271
Maternal nutrition......Page 272
Chronic disease......Page 274
Drugs......Page 275
Placental determinants......Page 276
Fetal determinants......Page 278
Aberrant fetal growth patterns......Page 280
Diagnosis......Page 281
Antenatal management......Page 284
Approach to an infant who is small for gestational age......Page 285
Asphyxia......Page 287
Neonatal metabolism......Page 288
Temperature regulation......Page 289
Follow-up......Page 290
Growth......Page 291
References......Page 292
Superimposed preeclampsia......Page 296
Role of the renin-angiotensin system......Page 297
Pathophysiologic basis of clinical manifestations......Page 298
Uterine vasculature......Page 299
Predisposing factors......Page 300
Differential diagnosis......Page 301
Antihypertensives......Page 302
Prevention of preeclampsia......Page 303
Classification......Page 304
Other considerations......Page 305
Summary......Page 306
References......Page 307
Congenital malformations......Page 310
Fetal macrosomia......Page 311
Diabetic ketoacidosis......Page 312
Diagnosis......Page 313
Rationale and fundamental structure of intensified therapy......Page 314
Oral hypoglycemic and antihyperglycemic agents......Page 315
Antepartum fetal surveillance: what and how to test......Page 316
Timing and method of delivery......Page 317
References......Page 318
Prematurity......Page 322
Pathogenesis......Page 324
Demographics......Page 326
Cervical and uterine factors......Page 327
Infection......Page 328
Other risk factors......Page 330
Biochemical predictors......Page 331
Ultrasound predictors......Page 333
Prevention......Page 334
Bed rest......Page 335
Progesterone......Page 336
Cerclage......Page 337
Ritodrine......Page 338
Magnesium sulfate......Page 339
Indomethacin......Page 341
Calcium channel blockers......Page 342
Oxytocin antagonists......Page 343
Antibiotics......Page 344
Corticosteroids......Page 346
Summary......Page 347
References......Page 348
Immune thrombocytopenic purpura......Page 354
Management of a subsequent pregnancy......Page 356
Fetal-neonatal consequences of maternal antinuclear antibodies......Page 357
Fetal-neonatal consequences of maternal antiphospholipid antibodies......Page 358
Myasthenia gravis......Page 359
References......Page 360
Biology......Page 362
Fetal and neonatal consequences......Page 363
Malformations......Page 364
Twin-twin transfusion......Page 365
Mortality......Page 366
Outcome......Page 367
References......Page 368
Risks of post-term pregnancy......Page 370
Dysmaturity......Page 371
Assessment of fetal well-being......Page 372
How should labor be induced?......Page 373
References......Page 374
Historical background......Page 376
Sensitization......Page 377
Hydrops fetalis......Page 378
Rh immunoglobulin prophylaxis......Page 380
Screening......Page 381
Functional assays......Page 383
Rh isoimmunization......Page 384
Prediction of anemia......Page 385
Intravascular transfusion......Page 388
Intraperitoneal transfusion......Page 389
Short term......Page 390
Atypical antigens......Page 391
References......Page 392
Volume......Page 396
Production and regulation......Page 397
Amniotic fluid index measurement......Page 398
Comparing amniotic fluid assessment techniques......Page 399
Amniotic fluid assessment in multifetal pregnancies......Page 400
Increased perinatal morbidity and mortality......Page 401
Uteroplacental insufficiency......Page 402
Etiology......Page 403
Assess fetal growth......Page 404
Amnioinfusion......Page 405
Maternal hydration......Page 406
Etiology......Page 407
Assess fetal anatomy......Page 408
Nonimmune hydrops fetalis......Page 409
Etiology......Page 410
Laboratory testing......Page 412
Postnatal evaluation......Page 414
Fetal surgery and experimental treatment......Page 415
References......Page 416
Urinary tract infection......Page 418
Preterm premature rupture of membranes......Page 419
Diagnosis......Page 420
Bacterial vaginosis......Page 421
Diagnosis and treatment......Page 422
Varicella-zoster virus......Page 423
Prevention......Page 424
Epidemiology and clinical manifestations......Page 425
Epidemiology and clinical manifestations......Page 426
Fetal and neonatal infection......Page 427
Maternal-fetal transmission......Page 428
Hepatitis C......Page 429
Clinical features......Page 430
Group b streptococcal infection......Page 431
Prevention of perinatal disease......Page 432
Clinical manifestations, diagnosis, and treatment......Page 433
Maternal disease and transmission......Page 434
Effects on the newborn......Page 435
Transmission and neonatal disease......Page 436
References......Page 437
Overview......Page 442
Infection and inflammation......Page 445
Developmental and structural lesions......Page 446
Clinical correlation......Page 447
References......Page 448
SECTION IV - The Delivery Room......Page 450
Labor pain characteristics and challenges......Page 452
Hypnosis......Page 453
Systemic medications......Page 454
Pharmacokinetics, pharmacodynamics, and the fetus......Page 455
Opioids......Page 456
Opioid agonists......Page 457
Intrathecal injections (spinals)......Page 458
Maternal side effects......Page 459
Maternal temperature elevation......Page 460
Breast feeding......Page 461
Neuraxial anesthesia......Page 462
Ancillary medications......Page 463
Fetal distress......Page 464
References......Page 465
Fetus......Page 468
Transition at birth......Page 469
Causes of depression and asphyxia......Page 471
Response to asphyxia......Page 472
Anticipation......Page 473
Initial quick overview......Page 474
Thermal management......Page 475
References......Page 476
Role of Positive Pressure Ventilation in Neonatal Resuscitation......Page 477
When to initiate positive pressure ventilation......Page 478
Peak inflation pressures and tidal volumes......Page 479
Continuous distending pressure (positive end-expiratory pressure or continuous positive airway pressure)......Page 480
Pressure delivering device......Page 481
Facemasks......Page 482
Intubation procedure......Page 484
References......Page 485
Oxidative stress: pathophysiologic background......Page 487
Animal studies......Page 489
Clinical data......Page 490
Room air versus 100% oxygenor something else......Page 491
References......Page 492
Chest Compression, Medications, and Special Problems......Page 493
Chest compression......Page 494
Epinephrine......Page 495
Sodium bicarbonate......Page 497
Immediate care after establishing adequate ventilation and circulation......Page 498
Infants with very low birthweight and extremely premature infants......Page 499
Pneumothorax......Page 500
Physical examination......Page 501
References......Page 502
Order of the examination......Page 504
Eyes......Page 505
Femoral pulses......Page 506
Swollen eyelids......Page 507
Syndromes......Page 508
Extra digits......Page 509
Abnormalities of the genitalia......Page 510
Congenital heart disease......Page 511
Hearing and vision screening......Page 512
Inspection......Page 513
Cranial nerves......Page 515
Motor function......Page 516
The premature infant......Page 517
References......Page 518
Etiology......Page 520
Clinical manifestations......Page 521
Cephalhematoma......Page 522
Prognosis......Page 523
Differential diagnosis......Page 524
Differential diagnosis......Page 525
Clinical manifestations......Page 526
Fractures and dislocations of facial bones......Page 527
Subconjunctival hemorrhage......Page 528
Intraocular hemorrhage......Page 529
Treatment......Page 530
Mechanism of injury......Page 531
Etiology......Page 532
Treatment......Page 533
Prognosis......Page 534
Treatment......Page 535
Treatment......Page 536
Clinical manifestations......Page 537
Treatment......Page 538
Treatment......Page 539
Differential diagnosis......Page 540
Differential diagnosis......Page 541
Etiology......Page 542
Epiphyseal separations......Page 543
Management......Page 544
Scrotum and labia majora......Page 545
Injuries related to accidental and inflicted trauma incurred by the mother......Page 546
References......Page 547
General clinical approach......Page 550
Complex or multifactorial......Page 551
Environmental exposure and teratogens......Page 552
Minor anomalies and phenotypic variants......Page 554
Evaluation......Page 555
Skin......Page 556
Head......Page 557
Eyes......Page 558
Ears......Page 559
Mouth......Page 560
Anus......Page 562
Extremities......Page 563
General studies......Page 567
Genetic laboratory studies......Page 568
Educational resources and support organizations......Page 569
References......Page 570
SECTION V - Provisions for Neonatal Care......Page 572
Water and heat exchange between the infant’s body surface and the environment......Page 574
Determination of water loss from the airway......Page 575
Heat exchange during the first hours after birth......Page 576
Transepidermal water loss during the first 4 postnatal weeks......Page 577
Heat exchange during the first weeks after birth......Page 578
Heat exchange between the infant’s skin and the environment during phototherapy......Page 579
Heat exchange between the infant’s skin and the environment during skin-to-skin care......Page 580
Water and heat exchange between the respiratory tract and environment......Page 582
Respiratory water and heat exchange during mechanical ventilation......Page 583
Neutral thermal environment......Page 584
The delivery room......Page 585
The cold infant......Page 586
References......Page 587
Touch and movement......Page 589
Summary......Page 590
Adjacencies......Page 591
Single-family rooms versus multiple-patient rooms......Page 592
The planning process......Page 593
References......Page 595
Biologic basis......Page 596
Leads and lead placement......Page 597
Electrocardiogram device and safety......Page 598
Blood pressure monitoring......Page 599
Indirect monitoring......Page 600
Surface and noninvasive monitoring......Page 601
Other monitoring techniques......Page 602
Capnography......Page 603
Pulse oximetry......Page 604
Principles......Page 605
Potential solutions......Page 606
Continuous blood gas monitoring......Page 607
Near-infrared spectroscopy......Page 608
Clinical applications of near-infrared spectroscopy......Page 609
Visible light spectroscopy......Page 610
References......Page 611
Transition phase and persistent pulmonary hypertension of the neonate......Page 616
Respiratory physiology: apnea, central control of ventilation, and respiratory distress syndrome......Page 617
Cardiac physiology and patent ductus arteriosus......Page 618
Oxygen therapy and retinopathy of prematurity and chronic lung disease......Page 619
Anesthetics and neurodevelopment......Page 620
Preoperative evaluation and preparation......Page 621
Transport......Page 622
Operating room equipment and monitoring......Page 626
Inhalational agents......Page 627
Intravenous agents......Page 628
Recovery from anesthesia......Page 630
References......Page 631
Provision for care......Page 634
Perception of the fetus as a separate individual......Page 635
Labor......Page 636
First hours after birth......Page 637
Sensitive period......Page 639
Interventions for premature or sick infants and their parents......Page 641
Kangaroo baby care......Page 642
Family-centered care in the neonatal intensive care unit......Page 643
Interventions for parents of malformed infants......Page 644
References......Page 645
Definition......Page 648
Epidemiology and trends......Page 649
Medical interventions and iatrogenic causes......Page 650
Gestational age assessment and obstetric practice guidelines......Page 651
Thermoregulation......Page 652
Role of fetal lung fluid clearance in neonatal transition......Page 653
Respiratory......Page 655
Temperature instability and hypoglycemia......Page 656
Hospitalizations and rehospitalizations after discharge......Page 657
Long-term outcomes and societal costs......Page 658
Discharge criteria......Page 659
References......Page 660
Incidence of postnatal growth failure......Page 662
Evidence supporting early nutritional support with parenteral amino acids......Page 663
Intravenous amino acid mixtures......Page 665
Intravenous carbohydrate requirements......Page 666
Intravenous lipid emulsions......Page 667
Energy requirements in the parenterally fed infant......Page 668
Complications of parenteral nutrition......Page 669
Protein requirements in the enterally fed infant......Page 670
Lipid requirements in the enterally fed infant......Page 672
Energy requirements in the enterally fed infant......Page 674
Minerals......Page 675
Vitamins......Page 676
Human milk and formula......Page 677
Preterm infants......Page 679
Initiation and advancement of enteral feeding......Page 682
Practical approach to administration of parenteral and enteral nutrition......Page 683
References......Page 684
Sodium balance in newborns......Page 688
Water balance in newborns......Page 689
Insensible losses......Page 690
Urinary losses......Page 691
Estimating pathogenic losses and deficit replacement......Page 692
Uncommon causes of hyponatremia in neonates......Page 693
Hypernatremia......Page 694
Chronic lung disease......Page 695
Long-term maintenance of acid-base balance......Page 696
Developmental aspects of acid-base physiology......Page 697
Diagnostic approach to disorders of acid-base balance......Page 698
Metabolic alkalosis......Page 699
Late metabolic acidosis of prematurity......Page 700
Neonatal bartter syndrome......Page 701
References......Page 702
Normal chest......Page 704
Respiratory distress syndrome......Page 705
Neonatal pneumonia......Page 706
Pulmonary hemorrhage......Page 707
Cystic adenomatoid malformation......Page 708
Esophageal atresia and tracheoesophageal fistula......Page 709
Heart......Page 710
Gastrointestinal tract......Page 711
Duodenal atresia......Page 712
Functional immaturity of the colon......Page 713
Necrotizing enterocolitis......Page 714
Biliary atresia......Page 716
Hepatic calcifications......Page 717
Urinary tract......Page 718
Multicystic dysplastic kidney......Page 719
Nephrocalcinosis......Page 720
Germinal matrix hemorrhage......Page 721
Periventricular leukomalacia......Page 722
Skeletal......Page 723
Future directions......Page 724
References......Page 725
Drug absorption......Page 728
Hepatic drug metabolism......Page 730
Placenta......Page 731
Drug transfer across the placenta......Page 732
Metabolic capability of the human placenta......Page 733
Drug disposition of the fetus......Page 734
Exposure of the fetus to drugs......Page 735
Effects of drugs on the fetus......Page 736
Genetic background......Page 737
Mechanisms of drug toxicity in the fetus......Page 740
Drug use, disposition, and metabolism in the newborn infant......Page 741
Absorption of drugs in the neonate......Page 742
Drug metabolism and disposition in the neonate......Page 743
Pharmacokinetic considerations, dosage guidelines, and therapeutic monitoring in neonatal drug therapy......Page 746
Passage of exogenous compounds from maternal blood to milk......Page 748
Antimicrobial drugs......Page 749
Drugs affecting the endocrine system......Page 750
Mercury......Page 751
References......Page 752
Clinician’s role in perinatal substance abuse......Page 754
Prevalence of fetal alcohol syndrome......Page 755
Neurobehavioral and developmental effects in infancy......Page 757
Recommendations for prevention and intervention......Page 759
Fetal effects......Page 760
Neuropsychological and behavioral effects in childhood and adolescence......Page 761
Recommendations for prevention and intervention......Page 762
Opioids......Page 763
Neonatal abstinence syndrome......Page 765
Central nervous system effects......Page 766
Pharmacologic effects of cocaine......Page 767
Intrauterine and postnatal growth......Page 768
Infant and toddler neurobehavior and mental and psychomotor development......Page 769
Child cognition, neurodevelopment, and behavior......Page 770
Amphetamines......Page 771
References......Page 772
SECTION VI - Development and Disorders of Organ Systems......Page 778
Overview of hematopoiesis......Page 780
Kinetics of production and circulation......Page 781
Adhesion......Page 782
Microbicidal activity......Page 784
Production and differentiation......Page 785
Microbicidal activity......Page 786
Phenotypic and functional characteristics......Page 787
Overview of serum opsonins......Page 788
Ontogeny and analysis of the complement system in the neonatal period......Page 789
Structure and function......Page 790
Overview......Page 791
Tumor necrosis factor family......Page 792
Chemokines......Page 793
Coordinated inflammatory response in neonatal sepsis......Page 794
Overview......Page 796
Overview......Page 797
Role of cytokine receptor signaling in lymphocyte development......Page 798
Role of cytokines in t cell function......Page 799
T cell function in neonates......Page 800
Summary......Page 801
B cell development......Page 802
Role of cytokines in b cell function......Page 804
Immunoglobulin structure and function......Page 805
Antibody production in fetuses and neonates......Page 806
Immunologic properties of human breast milk......Page 807
Summary......Page 809
Evaluation of host defenses in neonates......Page 810
References......Page 811
Microbiology......Page 812
Maternal risk factors......Page 813
Other risk factors......Page 814
Differential diagnosis......Page 815
Leukocyte counts......Page 816
C-reactive protein......Page 817
Erythrocyte sedimentation rate......Page 818
Screening panels......Page 819
Empirical antimicrobial therapy......Page 820
Prevention......Page 824
Clinical manifestations......Page 825
Diagnosis......Page 826
Prognosis and outcome......Page 827
Clinical manifestations......Page 828
Etiology......Page 829
Pathogenesis......Page 830
Treatment......Page 831
Pathogenesis......Page 832
Etiology......Page 833
Diagnosis......Page 834
Etiology......Page 835
Treatment......Page 836
Mastitis (breast abscess)......Page 837
Diagnosis......Page 838
Treatment......Page 839
Diagnosis......Page 840
Diagnosis......Page 841
Follow-up......Page 843
Prevention......Page 844
Treatment......Page 845
Barrier nursing technique......Page 846
References......Page 847
Microbiology......Page 849
Clinical manifestations......Page 850
Treatment......Page 851
Incidence......Page 852
Clinical manifestations......Page 853
Treatment......Page 854
Clinical manifestations......Page 855
Diagnosis......Page 856
Clinical manifestations......Page 857
References......Page 858
Epidemiology and transmission......Page 860
Neonatal herpes simplex virus infection......Page 861
Diagnosis......Page 862
Therapy......Page 863
Cytomegalovirus......Page 864
Maternal clinical manifestations......Page 865
Prognosis......Page 866
Hearing and visual impairment......Page 867
Neonatal diagnosis......Page 868
Epidemiology and transmission......Page 869
Perinatal chickenpox......Page 870
Human herpesvirus 6 and 7......Page 871
Parainfluenza virus......Page 872
Effects on the fetus......Page 873
Transmission......Page 874
Subsequent respiratory morbidity......Page 875
Prophylaxis and therapy......Page 876
Epidemiology......Page 878
Pathogenesis......Page 879
Care of the mother and infant in developed countries......Page 880
Safety......Page 881
Care of the mother and infant in developing countries......Page 882
Clinical manifestations......Page 883
Epidemiology and transmission......Page 884
Laboratory diagnosis......Page 885
Hepatitis B virus......Page 886
Perinatal transmission......Page 887
Hepatitis C virus......Page 888
Hepatitis E virus......Page 889
Epidemiology and transmission......Page 890
Clinical manifestations......Page 891
Influenza a and b......Page 892
Novel h1n1 influenza a......Page 893
Rubella virus......Page 894
Congenital rubella syndrome......Page 895
Rhinovirus......Page 896
Severe acute respiratory syndrome......Page 897
Adenovirus......Page 898
Human papillomavirus......Page 899
References......Page 900
Neural induction and neurulation......Page 906
Neuronal proliferation......Page 907
Neuronal migration and cortical lamination......Page 909
Subplate neurons......Page 914
Axonal and dendritic growth......Page 915
Synaptogenesis......Page 918
Programmed cell death......Page 919
Astrocytes......Page 920
Oligodendrocytes and myelination......Page 921
Microglia and brain macrophages......Page 923
Craniorachischisis totalis, anencephaly, myeloschisis, encephalocele, myelomeningocele, and occult dysraphic states......Page 924
Holoprosencephaly and agenesis of the corpus callosum......Page 926
Microcephaly......Page 927
Micrencephaly vera......Page 928
Classic lissencephalies (type i lissencephalies)......Page 929
Tuba3 mutations......Page 930
Cobblestone lissencephalies (type ii lissencephalies)......Page 931
Disorders of central nervous system organization and maturation......Page 932
White Matter Damage and Encephalopathy of Prematurity......Page 933
Microscopic neuropathology......Page 937
Microglial activity......Page 938
Models of encephalopathy of prematurity: implications for pathogenesis......Page 939
Hyoperfusion and hypoxia-ischemia......Page 940
Infection and inflammation......Page 941
Excitotoxicity and oxidative stress......Page 942
Neonatal sonography......Page 943
Diffusion magnetic resonance imaging......Page 945
Magnetic resonance spectroscopy......Page 946
Impairment of brain growth and long-term development......Page 948
Intracranial Hemorrhage and Vascular Lesions......Page 952
Neuropathology......Page 955
Parenchymal hemorrhage......Page 956
Pathogenesis......Page 957
Cardiovascular factors......Page 958
Diagnosis......Page 959
Management......Page 960
Neurodevelopmental outcome......Page 961
Other hemorrhages......Page 962
Cerebral artery infarction......Page 963
Sinovenous thrombosis......Page 964
Diagnosis......Page 965
Risk factors......Page 966
References......Page 967
I. pathophysiology......Page 971
Vascular territories......Page 972
Types of hypoxic-ischemic insult......Page 973
Systemic adaptation to hypoxic-ischemic insult......Page 974
Secondary neuronal death......Page 975
Free radical formation......Page 976
Ii. assessment tools......Page 977
Cerebral edema......Page 986
Other neuroprotective strategies......Page 987
Hypoxic-ischemic encephalopathy......Page 989
Hypoxic-ischemic encephalopathy and less severe neurodisability......Page 990
Section iiassessment tools......Page 991
Seizures in Neonates......Page 993
Clinical seizure criteria......Page 995
Clonic seizures......Page 996
Nonepileptic behaviors of neonates......Page 998
Neonatal myoclonus without electrographic seizures......Page 999
Seizure duration and topography......Page 1001
Incidence of neonatal seizures......Page 1002
Interictal electroencephalographic pattern abnormalities......Page 1003
Asphyxia-related events......Page 1004
Infection......Page 1006
Drug withdrawal and intoxication......Page 1007
Benign familial neonatal seizures......Page 1010
Treatment......Page 1011
Consequences of neonatal seizures......Page 1012
Prognosis......Page 1013
References......Page 1014
Neonatal neuromuscular disorders......Page 1016
Spinal muscular atrophies......Page 1017
Hereditary motor and sensory neuropathies......Page 1018
Neuromuscular junction disorders......Page 1019
Congenital muscular dystrophy......Page 1021
Congenital myotonic dystrophy......Page 1023
Nemaline myopathy......Page 1024
Myotubular myopathy......Page 1025
Debrancher enzyme deficiency (type iii glycogen storage disease)......Page 1026
References......Page 1027
The small head......Page 1029
Neurulation and cleavage anomalies......Page 1030
Migrational anomalies......Page 1031
Radial microbrain and micrencephaly vera......Page 1033
Evaluation and treatment of the small head......Page 1034
Macrencephaly and growth disorders......Page 1035
Degenerative disorders......Page 1036
Background......Page 1037
Posthemorrhagic hydrocephalus......Page 1038
External hydrocephalus......Page 1041
Intracranial cysts......Page 1042
Trauma......Page 1043
Craniosynostosis......Page 1044
Sagittal craniosynostosis......Page 1045
Unilateral coronal craniosynostosis......Page 1046
Metopic craniosynostosis......Page 1047
Crouzon syndrome......Page 1048
Apert syndrome......Page 1049
Saethre-chotzen syndrome......Page 1050
Treatment......Page 1051
References......Page 1052
Treatment......Page 1054
References......Page 1055
Follow-up for high-risk neonates......Page 1056
Physical growth......Page 1058
Major neurologic sequelae......Page 1059
Assessment of functional outcomes......Page 1060
Timing of follow-up visits......Page 1061
School-age outcome......Page 1062
Young adult outcomes......Page 1063
References......Page 1064
Normal hearing and hearing loss......Page 1068
Early intervention services......Page 1069
Risk factors......Page 1070
Hearing aids......Page 1072
Stress and impact on the family......Page 1073
References......Page 1074
A neurodevelopmental framework......Page 1076
Brain-environment interaction......Page 1077
A model for observing the preterm infant’s behavior......Page 1079
Behavioral language of the preterm infant......Page 1080
Testing the validity of nidcap......Page 1083
Direct assessment of preterm infants’ behavior......Page 1086
Overview of preterm newborn neurobehavioral assessments......Page 1087
The assessment of preterm infants’ behavior......Page 1088
Summary......Page 1090
References......Page 1091
Embryonic period......Page 1094
Saccular and alveolar stages......Page 1095
Pulmonary hypoplasia......Page 1098
Fetal lung fluid......Page 1099
Composition......Page 1100
Synthesis and secretion......Page 1101
Surfactant pool sizes......Page 1102
Pressure-volume curves......Page 1105
Surfactant appearance with development......Page 1107
Induced lung maturation......Page 1108
References......Page 1110
Respiratory rate......Page 1111
Cyanosis......Page 1112
Partial pressure of arterial carbon dioxide......Page 1113
Carbon dioxide......Page 1114
Airflow......Page 1115
Lung volume......Page 1116
Compliance......Page 1117
Resistance......Page 1118
Time constant......Page 1119
Limitations......Page 1121
Clinical applications......Page 1122
References......Page 1123
Pharmacologic acceleration of pulmonary maturation......Page 1125
Pathophysiology......Page 1126
Radiographic findings......Page 1127
Surfactant therapy......Page 1129
Inhaled nitric oxide therapy......Page 1131
Noninvasive nasal ventilation......Page 1151
Clinical associations......Page 1202
Resolution and consequences of apnea of prematurity......Page 1206
Pulmonary agenesis/hypoplasia......Page 1222
References......Page 1223
Cardiac Embryology......Page 1226
The tubular and looping heart......Page 1227
Endocardial development: formation of cushion tissue......Page 1230
Neural crest contribution to cardiogenesis......Page 1231
Epicardium......Page 1232
Therapy......Page 1233
References......Page 1234
Structural development......Page 1235
Pulmonary vascular transition......Page 1236
Persistent pulmonary hypertension of the newborn (see also part 8)......Page 1237
Congenital diaphragmatic hernia......Page 1238
Bronchopulmonary dysplasia......Page 1239
References......Page 1240
Chromosomal defects......Page 1241
Single gene defects......Page 1242
Major associated noncardiac defects......Page 1243
References......Page 1244
Fetal circulation......Page 1245
Indications for fetal cardiovascular assessment......Page 1246
Methods......Page 1247
Congenital heart defects......Page 1248
Fetal congestive heart failure and myocardial disease......Page 1249
Outcome......Page 1250
References......Page 1251
Pressure, flow, and resistance......Page 1252
Intracardiac shunting......Page 1253
Stroke volume and cardiac output......Page 1254
Diastolic function......Page 1255
Physical examination......Page 1256
Radiography......Page 1258
Echocardiography......Page 1259
Computed tomography and magnetic resonance imaging......Page 1260
Cyanosis......Page 1262
References......Page 1263
Clinical presentation......Page 1264
History......Page 1265
Laboratory evaluation......Page 1266
Laboratory evaluation......Page 1267
Management and prognosis......Page 1268
Anatomy and pathophysiology......Page 1269
Management and prognosis......Page 1270
Management and prognosis......Page 1271
Anatomy and pathophysiology......Page 1272
Clinical presentation......Page 1273
Anatomy and pathophysiology......Page 1274
Management and prognosis......Page 1275
Management and prognosis......Page 1276
Laboratory evaluation......Page 1278
Anatomy and pathophysiology......Page 1279
Associated defects......Page 1280
Management and prognosis......Page 1281
References......Page 1282
Cardiac malposition and abnormalities of abdominal situs......Page 1285
Diagnosis......Page 1286
Hypertension......Page 1287
Etiology......Page 1288
Treatment......Page 1289
Cardiac tumors......Page 1291
Neonatal marfan syndrome......Page 1293
References......Page 1294
Electrophysiologic testing......Page 1296
General mechanisms......Page 1297
Accessory pathway reentrant tachycardia......Page 1298
Atrioventricular node reentrant tachycardia......Page 1299
Junctional ectopic tachycardia......Page 1300
Ventricular tachycardia......Page 1301
Symptom-free or mildly affected infants......Page 1302
Rapid classification of abnormal tachycardia......Page 1303
Atrial flutter......Page 1304
Accessory pathway reentrant tachycardia......Page 1306
Treatment of bradyarrhythmias......Page 1307
General principles......Page 1308
Prostaglandin e1......Page 1309
Afterload......Page 1310
Prevention of bacterial endocarditis......Page 1311
Surgery......Page 1312
Neonatal heart transplantation......Page 1313
Balloon atrial septostomy......Page 1314
Pulmonary valve stenosis......Page 1315
Native coarctation of the aorta......Page 1316
Vessel occlusion......Page 1317
Fetal interventional catheterization......Page 1318
References......Page 1319
Anatomic and functional shifts in hematopoiesis......Page 1322
Hemoglobins and oxygen-carrying capacity......Page 1323
Red blood cell indices during prenatal and postnatal development......Page 1326
Definition......Page 1327
Evaluation......Page 1329
Anemia caused by blood loss......Page 1330
Twin-twin transfusion......Page 1331
Alloimmune hemolytic anemia......Page 1332
Minor blood group hemolytic diseases......Page 1333
Erythrocyte structural defects......Page 1334
Membrane lipid defects......Page 1335
Vitamin e deficiency......Page 1336
The thalassemias......Page 1337
Hemoglobin variants......Page 1338
Hemoglobin s and sickle cell anemia......Page 1339
Iron-deficiency anemia......Page 1340
Anemia of prematurity......Page 1341
Diamond-blackfan anemia......Page 1342
Methemoglobinemia......Page 1343
Polycythemia......Page 1344
Neutropenia......Page 1345
Autoimmune neutropenia of infancy......Page 1346
Shwachman-diamond syndrome......Page 1347
Reticular dysgenesis......Page 1349
Leukocyte adhesion deficiency......Page 1350
Chédiak-higashi syndrome......Page 1351
Chronic granulomatous disease......Page 1352
Platelets, endothelium, and von willebrand factor......Page 1353
Coagulation factors......Page 1354
Physiologic anticoagulant strategies and proteins......Page 1355
Physiologic alterations of coagulation and fibrinolysis in the neonate......Page 1356
Defects in the hemostatic system......Page 1357
Laboratory testing of the neonatal hemostatic system......Page 1359
Hemophilias......Page 1361
Factor vii deficiency......Page 1362
Hepatic disease......Page 1363
Extracorporeal membrane oxygenation......Page 1364
Neonatal thrombosis......Page 1365
Elevated factor viii levels......Page 1366
Low-molecular-weight heparin......Page 1367
Oral anticoagulation with warfarin (coumadin)......Page 1368
Fibrinolytic therapy......Page 1369
Platelet function......Page 1370
Neonatal alloimmune thrombocytopenia......Page 1371
Other conditions associated with increased platelet destruction......Page 1372
Thrombocytopenia with absent radii syndrome......Page 1373
Alport syndrome (hereditary nephritis) and epstein syndrome......Page 1374
Infant leukemia......Page 1375
Teratomas and other germ cell tumors......Page 1376
References......Page 1377
Risks of transfusion therapy......Page 1379
Hypocalcemia......Page 1380
Cytomegalovirus......Page 1381
Hepatitis b virus......Page 1382
Febrile nonhemolytic transfusion reactions......Page 1383
Autologous red blood cell transfusions......Page 1384
Indications......Page 1385
Red blood cell preparations......Page 1386
Granulocyte transfusion......Page 1387
Fresh-frozen plasma transfusion......Page 1388
Choice of blood components......Page 1389
References......Page 1390
Esophagus......Page 1394
Stomach......Page 1395
Duodenum, pancreas, and biliary system......Page 1397
Small intestine......Page 1398
References......Page 1399
Evaluation of the infant with chronic diarrhea......Page 1400
Management of intestinal failure......Page 1401
Prenatal diagnosis......Page 1402
Johanson-blizzard syndrome......Page 1404
Congenital sucrase-isomaltase deficiency......Page 1405
Maltase-glucoamylase deficiency......Page 1406
Laboratory investigations......Page 1407
Other causes of protein-losing enteropathy......Page 1408
Molecular pathophysiology......Page 1409
Clinical features......Page 1410
Clinical features......Page 1411
Clinical features......Page 1412
Allergic enteropathy......Page 1413
Short bowel syndrome......Page 1414
References......Page 1415
Esophageal atresia and tracheoesophageal fistula......Page 1419
Esophageal duplications......Page 1424
Congenital diaphragmatic hernia......Page 1425
Gastroesophageal reflux......Page 1426
Abdominal wall defects......Page 1427
Gastric volvulus......Page 1431
Gastric perforation......Page 1432
Pyloric atresia......Page 1433
Hypertrophic pyloric stenosis......Page 1434
Duodenal atresia and stenosis......Page 1436
Gastrointestinal duplications......Page 1437
Malrotation and midgut volvulus......Page 1438
Meconium ileus......Page 1440
Meconium plug syndrome......Page 1441
Jejunoileal atresia and stenosis......Page 1442
Hirschsprung disease......Page 1443
Anorectal anomalies......Page 1444
Colostomy......Page 1446
Long-term follow-up......Page 1447
References......Page 1448
Epidemiology......Page 1450
Outcome......Page 1451
Pathophysiology......Page 1452
Enteral feeding......Page 1453
Bacterial colonization......Page 1454
Host defense......Page 1455
Summary......Page 1457
References......Page 1458
Bilirubin biochemistry......Page 1462
Bilirubin production......Page 1464
Hepatic uptake of bilirubin......Page 1465
Excretion of bilirubin......Page 1466
Enterohepatic absorption of bilirubin......Page 1467
The ugt gene......Page 1468
Fetal bilirubin......Page 1469
Term neonate......Page 1470
Preterm neonate......Page 1471
Pathologic unconjugated hyperbilirubinemia......Page 1472
Disorders of production......Page 1473
Abo heterospecificity......Page 1474
Function of g6pd.......Page 1475
Erythrocyte structural defects......Page 1476
Sequestration......Page 1477
Crigler-najjar syndrome type i......Page 1478
Breast-feeding failure jaundice......Page 1479
Sequelae of unconjugated hyperbilirubinemia......Page 1480
Kernicterus......Page 1481
Total bilirubin (tb) measurements......Page 1484
Therapy for unconjugated hyperbilirubinemia......Page 1487
Mechanism of action......Page 1489
Technique......Page 1490
Complications......Page 1493
Phenobarbital......Page 1495
Miscellaneous agents......Page 1496
Complications......Page 1497
Prediction of hyperbilirubinemia and postdischarge follow-up......Page 1499
Conjugated hyperbilirubinemia......Page 1500
Causes of conjugated hyperbilirubinemia......Page 1502
Treatment of neonatal hepatitis......Page 1505
Treatment of extrahepatic biliary atresia......Page 1506
Known infectious causes......Page 1507
Cystic diseases......Page 1508
References......Page 1509
Other fetal substrates......Page 1516
Glucose metabolism after birth......Page 1517
Hypoglycemia......Page 1519
Intrapartum glucose administration......Page 1520
Diabetes in pregnancy: the infant of a diabetic mother......Page 1521
Hypoglycemia......Page 1523
Management of the diabetic mother......Page 1524
Prognosis......Page 1525
Intrauterine growth restriction and infants who are small for gestational age......Page 1526
Hepatic glucose-6-phosphatase and prematurity......Page 1527
Iatrogenic causes......Page 1528
Nesidioblastosis-adenoma spectrum......Page 1529
Beckwith-wiedemann syndrome......Page 1530
Clinical and laboratory manifestations......Page 1531
Fructose intolerance......Page 1532
Neurohypoglycemia (hypoglycorrhachia) caused by defective glucose transport......Page 1533
Intravenous glucose infusions......Page 1534
Somatostatin......Page 1535
Prognosis of neonatal hypoglycemia......Page 1536
Hyperglycemia......Page 1537
Diabetes mellitus in the newborn......Page 1538
Insulin therapy in the baby with low birthweight......Page 1539
Disorders of Calcium, Phosphorus, and Magnesium Metabolism......Page 1540
Serum calcium......Page 1542
Placental transport......Page 1543
Intestinal absorption......Page 1544
Serum phosphorus......Page 1546
Renal excretion......Page 1547
Intestinal absorption......Page 1549
Regulation of secretion......Page 1550
Synthesis and metabolism......Page 1551
Neonatal vitamin d: function and recommendations......Page 1552
Synthesis and metabolism......Page 1553
Ontogenesis......Page 1554
Evaluation of fetal mineral accretion......Page 1555
Infants with very low birth weight......Page 1557
Term infants......Page 1558
Maternal diabetes......Page 1559
Hypomagnesemia......Page 1560
Infantile osteopetrosis......Page 1561
Symptomatic hypocalcemia......Page 1562
Iatrogenic hypercalcemia......Page 1563
Primary hyperparathyroidism......Page 1564
Other causes of hypercalcemia......Page 1565
Treatment......Page 1566
Maternal diabetes......Page 1567
Other causes of hypomagnesemia......Page 1568
Osteopenia of prematurity......Page 1569
Etiology......Page 1570
Enteral nutrition......Page 1571
References......Page 1572
Thyroid Disorders......Page 1575
Cellular metabolism......Page 1576
Synthesis, release, transport, and use of thyroid hormones......Page 1577
Monodeiodination of thyroxine......Page 1578
Thyroxine......Page 1579
Free hormones......Page 1580
Thyroid autoantibodies......Page 1581
Thyroid-stimulating hormone surge test......Page 1582
Thyroid function: fetal-maternal relationship......Page 1583
Congenital hypothyroidism......Page 1585
Defective embryogenesis of the thyroid......Page 1587
Iodine deficiency......Page 1588
Neonatal screening for hypothyroidism......Page 1589
Clinical manifestations......Page 1593
Laboratory manifestations......Page 1594
Transient primary neonatal hypothyroidism......Page 1595
Transient hypothyroxinemia......Page 1596
Treatment......Page 1597
Etiology and pathogenesis......Page 1599
Prognosis......Page 1600
Increased transthyretin......Page 1601
References......Page 1602
Y chromosome and role of sry gene......Page 1603
Embryology and endocrinology......Page 1604
Development of the external genitalia......Page 1605
Fetal gonadal endocrine function......Page 1607
Control of genital differentiation: roles of antimÜllerian hormone and testosterone......Page 1608
Penis size......Page 1609
Clitoris size......Page 1610
Associated dysmorphology......Page 1611
Discussion with family and professional staff......Page 1612
Biochemistry......Page 1614
Nomenclature of disorders of sex development......Page 1615
45,x (turner syndrome and variants)......Page 1617
Ovotesticular disorder of sex development......Page 1619
Complete and partial gonadal dysgenesis......Page 1620
Mutation of sox9 (sry-like hmg box-related gene 9)......Page 1621
17,20-desmolase (17,20-lyase) deficiency......Page 1622
Leydig cell hypoplasia......Page 1623
Complete androgen insensitivity syndrome......Page 1624
Disorders of antimüllerian hormone and antimüllerian hormone receptor (persistent müllerian duct syndrome)......Page 1625
Congenital adrenal hyperplasia......Page 1626
Simple virilizing form.......Page 1628
Diagnosis.......Page 1629
Treatment.......Page 1630
3β-hydroxysteroid dehydrogenase deficiency......Page 1631
P-450 oxidoreductase deficiency......Page 1633
Maternally derived androgenic substances......Page 1634
Müllerian and vaginal dysgenesis......Page 1635
Cryptorchidism......Page 1636
Clitoromegaly......Page 1637
References......Page 1638
Misconception 1......Page 1640
Misconception 8......Page 1641
Principles of screening programs......Page 1642
Screening for disorders......Page 1643
Biotinidase deficiency......Page 1654
Homocystinuria......Page 1655
Medium-chain acyl-coa dehydrogenase deficiency......Page 1656
Phenylketonuria......Page 1657
Fetal diseases affecting the mother......Page 1658
The sick newborn infant......Page 1659
Pyridoxine-dependent seizures......Page 1660
Glycogen storage disorders......Page 1661
Fatty acid β-oxidation and mitochondrial respiratory chain defects......Page 1662
Hair and skin abnormalities......Page 1663
Tyrosinemia type i......Page 1664
Carbohydrate metabolism disorders......Page 1665
Hepatomegaly and splenomegaly......Page 1666
Sepsis......Page 1667
Congenital disorders of glycosylation......Page 1668
Cholesterol biosynthesis......Page 1669
Mevalonate kinase deficiency......Page 1670
Single-enzyme defects......Page 1671
Blood studies......Page 1672
Urine studies......Page 1673
Amino acid analysis......Page 1674
Lactate and pyruvate analysis......Page 1675
Tests for peroxisomal disorders......Page 1676
Postmortem evaluation......Page 1677
Differential diagnosis......Page 1678
Defects of ketolysis......Page 1679
Defects in branched-chain amino acid metabolism......Page 1680
Management......Page 1681
Differential diagnosis......Page 1682
Krebs cycle defects......Page 1684
Defects of the respiratory chain......Page 1685
Hypoglycemia......Page 1688
Differential diagnosis......Page 1689
Gluconeogenesis defects......Page 1690
Fatty acid oxidation disorders......Page 1691
Differential diagnosis......Page 1692
Urea cycle defects......Page 1693
Treatment......Page 1694
Treatment at the protein level......Page 1695
References......Page 1696
Development of the kidney......Page 1700
Development of the bladder and urethra......Page 1701
Physiology of the developing kidney......Page 1702
History......Page 1703
Physical examination......Page 1705
Urinalysis......Page 1706
Hematuria......Page 1707
Intrinsic (renal) acute kidney injury......Page 1708
Medical management......Page 1709
Definition and incidence......Page 1710
Causes......Page 1711
Treatment......Page 1712
Nephrocalcinosis......Page 1714
Congenital and inherited disorders of the kidney and urinary tract......Page 1715
Prenatal management......Page 1716
Posterior urethral valves......Page 1717
Exstrophy-epispadias complex......Page 1718
Autosomal recessive polycystic kidney disease......Page 1719
Tumors of the kidney......Page 1720
References......Page 1721
Development of the epidermis......Page 1724
Development of the appendages......Page 1726
Blood and lymphatic vessel development......Page 1727
Transient cutaneous lesion......Page 1728
Pigmentary lesions53......Page 1729
Transient neonatal pustular melanosis......Page 1730
Infantile acropustulosis......Page 1731
Collodion baby......Page 1732
Management of ichthyosis......Page 1734
Staphylococcal scalded skin syndrome......Page 1735
Viral lesions......Page 1736
Epidermolysis bullosa......Page 1737
Incontinentia pigmenti......Page 1739
Zinc deficiency......Page 1740
Congenital melanocytic nevi......Page 1741
Congenital giant melanocytic nevi......Page 1742
Partial albinism......Page 1743
Hemangiomas......Page 1744
Sturge-weber syndrome......Page 1746
Epidermal nevi......Page 1747
Atopic dermatitis......Page 1748
Langerhans cell histiocytosis......Page 1749
Ehlers-danlos syndrome......Page 1750
Porphyrias......Page 1751
Principles of newborn skin care......Page 1752
References......Page 1754
Neonatal eye examination......Page 1756
Normal ocular findings......Page 1760
Orbital abnormalities......Page 1761
Ocular hypotelorism or hypertelorism......Page 1762
Blepharoptosis......Page 1763
Watery eye......Page 1764
Cryptophthalmia......Page 1765
Cloudy cornea......Page 1766
Aniridia......Page 1767
Abnormal red reflex......Page 1768
Cataract......Page 1769
Persistent hyperplastic primary vitreous......Page 1770
Abnormal macula......Page 1771
Morning glory disc anomaly......Page 1772
Strabismus......Page 1773
Amblyopia......Page 1774
Craniosynostosis syndromes......Page 1775
Sturge-weber syndrome......Page 1776
Ocular trauma......Page 1777
Ocular tumors in infants......Page 1778
Rhabdomyosarcoma......Page 1779
References......Page 1780
Pathogenesis......Page 1783
Therapy......Page 1785
Recommendations for examination schedule......Page 1786
References......Page 1787
Spine......Page 1790
Multifactorial conditions......Page 1791
Spinal defects......Page 1792
Brachial plexus injury......Page 1793
Fractures......Page 1794
Bone and joint infections......Page 1796
Imaging......Page 1797
Diagnosis......Page 1799
Treatment......Page 1800
Radial hypoplasia and clubhand......Page 1801
Constriction bands......Page 1802
Polydactyly......Page 1803
Congenital scoliosis......Page 1804
Lower extremities......Page 1805
Anterolateral angulation......Page 1806
Diagnosis......Page 1807
Treatment......Page 1809
Hyperextension, subluxation, and dislocation of the knee......Page 1810
Diagnosis......Page 1811
Diagnosis......Page 1812
Congenital vertical talus......Page 1813
Syndromes......Page 1814
Osteogenesis imperfecta......Page 1815
Fibrodysplasia ossificans progressiva......Page 1816
References......Page 1818
Therapeutic agents......Page 1822
Atomic weight and valence......Page 1832
Preterm infants with birthweight of 2000 grams or more......Page 1858
Preterm infants with birthweights less than 2000 grams......Page 1859
Z......Page 1860
Colour plates......Page 1920
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