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Original Article
Reproductive Technologies and the Risk of Birth Defects
Consistent evidence from individual studies, including registry-based cohort studies, and meta-analyses, has linked assisted conception involving in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) with an increased risk of birth defects.– The associations between the use of…
In this study, the risk of birth defects was increased with IVF but was no longer significant after adjustment for maternal factors. The risk of birth defects associated with intracytoplasmic sperm injection remained higher after multivariate adjustment. Residual confounding cannot be ruled out.
Case Records of the Massachusetts General Hospital
Case 12-2012 — A 10-Month-Old Girl with Vomiting and Episodes of Unresponsiveness
Presentation of Case. Dr. Helen H. Yeung (Pediatrics): A 10-month-old girl was seen in the emergency department at this hospital because of vomiting and episodes of unresponsiveness. The patient had been well until 2 a.m. on the day of admission, when she awoke with vomiting that was associated…
- CME
Review Article
200th Anniversary Article: What We Don't See
Sixty-eight years after the inaugural issue of The New England Journal of Medicine and Surgery, Sir William Osler introduced the term "pediatrics." Although "diseases peculiar to children" had figured in Benjamin Rush's lectures at the University of Pennsylvania since 1789, most physicians in the…
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- Interactive/Multimedia
Original Article
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity from loss-of-function mutations, typically missense, within the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Natural substrates of TNSALP that accumulate…
- Video
Original Article
Brief Report: A Mutation in the Thyroid Hormone Receptor Alpha Gene
Thyroid hormones have diverse actions, which include regulation of skeletal growth, maturation of the central nervous system, cardiac and gastrointestinal function, and energy homeostasis. In addition, thyroid hormones control their own production by feedback inhibition of hypothalamic thyrotropin…
Perspective
Bariatric Surgery in Adolescents
In this electronic age, we have become increasingly sedentary, while food, much of it prepackaged and of high nutrient density, is available in abundance. That overweight and obesity rates have reached epidemic proportions among children and adolescents in industrialized society is no longer news,…
Case Records of the Massachusetts General Hospital
Case 27-2011 — A 17-Year-Old Boy with Abdominal Pain and Weight Loss
Presentation of Case. Dr. Nina Mayer (Medicine–Pediatrics): A 17-year-old boy was seen in the pediatric gastroenterology clinic of this hospital because of abdominal pain and weight loss. The patient had been well until approximately 6 weeks earlier, when intermittent crampy abdominal pain…
- CME
Special Article
Malpractice Risk According to Physician Specialty
Despite tremendous interest in medical malpractice and its reform,– data are lacking on the proportion of physicians who face malpractice claims according to physician specialty, the size of payments according to specialty, and the cumulative incidence of being sued during the course of a…
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- CME
Correspondence
In Vivo Biomechanical Measurements of a Football Player's C6 Spine Fracture
To the Editor: During an investigation of concussion in American football players, we captured in vivo biomechanical data on a cervical spine fracture as it occurred in a male athlete (age, 18 years; height, 189.0 cm; weight, 79.4 kg) who was performing a head-down tackling maneuver. The…
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- Video
Sports are a common cause of spine injuries. Video footage documented an 18-year-old football player who sustained a cervical spine fracture during a head-down tackling maneuver. A telemetry system in the player's helmet measured the location and magnitude of the impact that caused the injury.
Clinical Implications of Basic Research
SHANK3, the Synapse, and Autism
Autism spectrum disorders present a paradox of great heterogeneity and great specificity. Well over 100 genetic disorders yield an autism phenotype, most through specific but distinct mechanisms, and many of which affect the synapse. SHANK3 (SH3 and multiple ankyrin repeat domains 3) is known to be…
Editorial
Fluid Resuscitation in Acute Illness — Time to Reappraise the Basics
Fluid resuscitation is a fundamental intervention in the treatment of critically ill patients. However, there is little conclusive evidence to guide clinicians about the best type of resuscitation fluid; the appropriate timing, volume, and rate of fluid administration; and the optimal way to…
Correspondence
Eculizumab in Severe Shiga-Toxin–Associated HUS
To the Editor: The hemolytic–uremic syndrome (HUS), a thrombotic microangiopathy, most commonly occurs secondary to infection with Shiga-toxin–producing Escherichia coli (STEC-HUS), although rare, atypical forms are associated with abnormalities in complement-regulating proteins. The inhibition…
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Original Article
Mortality after Fluid Bolus in African Children with Severe Infection
Rapid, early fluid resuscitation in patients with shock, a therapy that is aimed at the correction of hemodynamic abnormalities, is one component of goal-driven emergency care guidelines. This approach is widely endorsed by pediatric life-support training programs, which recommend the…
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Case Records of the Massachusetts General Hospital
Case 19-2011 — A 4-Year-Old Haitian Boy with Vomiting and Diarrhea
Presentation of Case. Dr. Ana A. Weil (Medicine): A 4-year-old Haitian boy was admitted to a hospital in Haiti affiliated with this hospital because of vomiting and diarrhea of 10 hours' duration. The patient had been well until approximately midnight the night before admission, when vomiting and…







