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Thyroid Screening and Childhood Cognitive Function
original article
Thyroid Screening and Childhood Cognitive Function
February 9, 2012 | J.H. Lazarus
and Others

In this randomized trial, antenatal screening (at a median gestational age of 12 weeks 3 days) and treatment for hypothyroidism did not result in improved cognitive function in children at 3 years of age.

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Gene Therapy Meets Stem Cells
clinical implications of basic research
Gene Therapy Meets Stem Cells
February 9, 2012 | R.A. Sandhaus

The holy grail of gene therapy is the treatment of disease caused by genetic mutations. A recent study in mice provides proof of principle that alpha1-antitrypsin deficiency can be corrected, if not cured, by the infusion of autologous induced pluripotent stem cells.

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Let's Move - Childhood Obesity Prevention from Pregnancy and Infancy Onward
Interactive Map
Let’s Move — Childhood Obesity Prevention from Pregnancy and Infancy Onward
April 22, 2010

The authors argue that to alter the course of the childhood obesity crisis, prevention efforts must target the youngest Americans — those under 2 years of age and preschoolers.

Delayed Puberty
clinical practice
Delayed Puberty
February 2, 2012 | M.R. Palmert
and L. Dunkel

Puberty is considered delayed when it has not yet occurred at an age that is 2 to 2.5 SD later than average (traditionally, 14 years in boys and 13 years in girls). Constitutional delay of growth and puberty (CDGP) is the most common cause. Management of CDGP is discussed.

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CSF Glucose and Serum Glucose
correspondence
CSF Glucose and Serum Glucose
February 9, 2012 | L.E. Nigrovic
and Others

Levels of glucose in the cerebrospinal fluid (CSF) are used to discriminate bacterial meningitis from viral meningitis. The relationship between levels of serum and CSF glucose in children is carefully examined in this study, which included more than 19,000 children.

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Treatment of the Idiopathic Respiratory-Distress Syndrome with Continuous Positive Airway Pressure
June 17, 1971 | G.A. Gregory and Others

The investigators used CPAP to treat 20 infants severely ill with IRDS. Pao2 increased in all, and 16 survived. CPAP had not been reported previously in the treatment of infants with IRDS.

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  • Editorial

    The Debate over Thyroid-Function Screening in Pregnancy

    Maternal hypothyroidism in pregnancy has been associated with a range of adverse outcomes, most importantly miscarriage, preterm delivery, and reduced cognitive function in offspring. In surveys, almost half the obstetricians in private practices in Maine and the majority of obstetricians in a…

    • February 9, 2012
    • Brent G.A.
    • N Engl J Med 2012; 366:562 - 563

      Maternal hypothyroidism in pregnancy has been associated with a range of adverse outcomes, most importantly miscarriage, preterm delivery, and reduced cognitive function in offspring.1 In surveys, almost half the obstetricians in private practices in ...

    • Original Article

      Antenatal Thyroid Screening and Childhood Cognitive Function

      Active secretion of thyroid hormone in the fetus does not start until about 18 to 20 weeks' gestation. Studies in animals suggest that until fetal hormone secretion begins, the fetus is dependent on circulating free thyroxine (T4) in the mother for growth and development, including central nervous…

      • February 9, 2012
      • Lazarus J.H., Bestwick J.P., Channon S., et al.
      • N Engl J Med 2012; 366:493 - 501
      • CME

      In this randomized trial, antenatal screening (at a median gestational age of 12 weeks 3 days) and treatment for hypothyroidism did not result in improved cognitive function in children at 3 years of age.

    • Clinical Implications of Basic Research

      Gene Therapy Meets Stem Cells

      Stem cell–based therapies have the potential to repair and even correct the defects related to human diseases. Although tantalizing niche applications have moved forward in the clinical setting, progress seems to be slow, and ethical challenges have yet to be definitively addressed. The goal of…

      • February 9, 2012
      • Sandhaus R.A.
      • N Engl J Med 2012; 366:567 - 569

        The holy grail of gene therapy is the treatment of disease caused by genetic mutations. A recent study in mice provides proof of principle that alpha1-antitrypsin deficiency can be corrected, if not cured, by the infusion of autologous induced pluripotent stem cells.

      • Correspondence

        Relationship between Cerebrospinal Fluid Glucose and Serum Glucose

        To the Editor: Levels of glucose in the cerebrospinal fluid (CSF) are used to discriminate bacterial meningitis from viral meningitis. Children with bacterial meningitis typically have low levels of CSF glucose because of glycolysis by both white cells and the pathogen and impaired CSF glucose…

        • February 9, 2012
        • N Engl J Med 2012; 366:576 - 578
        • Free Full Text

        The relationship between levels of serum and cerebrospinal fluid glucose in children is carefully examined in this study, which included more than 19,000 children.

      • Clinical Practice

        Delayed Puberty

        Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the authors' clinical recommendations. Stage. A 14-year-old…

        • February 2, 2012
        • Palmert M.R. and Dunkel L.
        • N Engl J Med 2012; 366:443 - 453
        • CME
        • Full Text Audio

        Puberty is considered delayed when it has not yet occurred at an age that is 2 to 2.5 SD later than average (traditionally, 14 years in boys and 13 years in girls). Constitutional delay of growth and puberty (CDGP) is the most common cause. Management of CDGP is discussed.

      • Original Article

        GAD65 Antigen Therapy in Recently Diagnosed Type 1 Diabetes Mellitus

        The clinical onset of type 1 diabetes is manifested by the effects of inadequate insulin secretion due to the immunologic destruction of pancreatic-islet beta cells. Despite replacement therapy with exogenous insulin, type 1 diabetes is associated with substantial morbidity and mortality. Even…

        • February 2, 2012
        • Ludvigsson J., Krisky D., Casas R., et al.
        • N Engl J Med 2012; 366:433 - 442

          This trial assessed alum-formulated glutamic acid decarboxylase, the 65-kD isoform (GAD65), a major autoantigen in type 1 diabetes. In patients with recent-onset disease; the compound did not significantly alter the loss of C peptide or improve clinical outcomes.

        • Images in Clinical Medicine

          Post-Traumatic Herniated Cervical Disk

          Figure 1.

          • February 2, 2012
          • Diabira S. and Morandi X.
          • N Engl J Med 2012; 366:462
          • Free Full Text

          An 18-year-old man with no notable medical history had sudden transient tetraplegia after heading a soccer ball. Ten minutes later, he had recovered normal strength. On examination, he had intense cervical pain, paresthesias on his shoulders and arms, and no other neurologic deficits.

        • Perspective

          Improving Childhood Vaccination Rates

          Recently, the mother of a young child confessed to me that she didn't know any parents who were following the recommended immunization schedule for their children. She said that when she told her pediatrician she'd like to follow an alternative schedule, the physician had simply acquiesced, leading…

          • February 2, 2012
          • Diekema D.S.
          • N Engl J Med 2012; 366:391 - 393
          • Free Full Text

          U.S. parents who decline or delay selected vaccinations or refuse to vaccinate their children are a diverse group. Vaccine coverage can be increased by focusing on parents who encounter barriers to obtaining vaccines or hesitate because of fears about safety.

        • Correspondence

          Staphylococcus aureus Reactivation Osteomyelitis after 75 Years

          To the Editor: In 1934, a 10-year-old girl was hospitalized at the Children's Hospital of Boston for 1 1/2 years for Staphylococcus aureus osteomyelitis of the left femur. This was the preantibiotic era, so she did not receive any antibiotic therapy at that time but, instead, underwent multiple…

          • February 2, 2012
          • N Engl J Med 2012; 366:481 - 482
          • Free Full Text

          In this case report, Staphylococcus aureus was found to persist in an 85-year-old woman 75 years after the successful treatment of osteomyelitis during her childhood.

        • Correspondence

          Sildenafil for Severe Lymphatic Malformations

          To the Editor: Lymphatic malformations are uncommon congenital vascular anomalies that can cause complications including obstruction of vital organs and their function, recurrent infection, and disfigurement. Current procedural treatments are only partially successful, and lymphatic malformations…

          • January 26, 2012
          • N Engl J Med 2012; 366:384 - 386
          • Free Full Text

          Lymphatic malformations are rare but can cause significant clinical problems in addition to cosmetic disfigurement. Sildenafil was used in a child whose pulmonary hypertension was caused by lymphatic malformation; the result was a marked decrease in the lymphatic malformation.

        • Case Records of the Massachusetts General Hospital

          Case 3-2012 — A Newborn Boy with Vomiting, Diarrhea, and Abdominal Distention

          Presentation of Case. Dr. Rebecca C. Bell (Pediatrics): A 6-day-old boy was admitted to this hospital because of vomiting, diarrhea, and abdominal distention. The patient was born at another hospital to a teenaged primigravida by vaginal delivery after a full-term, uncomplicated gestation. The…

          • January 26, 2012
          • Melendez E., Goldstein A.M., Sagar P., Badizadegan K.
          • N Engl J Med 2012; 366:361 - 372

            A 6-day-old boy was admitted to the hospital because of vomiting, diarrhea, and abdominal distention, which had begun earlier that day and worsened. On admission, he showed signs of sepsis. Imaging showed narrowing of the rectosigmoid colon.

          • 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…

            • January 19, 2012
            • Bochukova E., Schoenmakers N., Agostini M., et al.
            • N Engl J Med 2012; 366:243 - 249

              On whole-exome sequencing, a child with clinical hypothyroidism but borderline-abnormal thyroid hormone levels was found to have a heterozygous nonsense mutation in THRα, encoding a mutant protein inhibiting wild-type receptor action in a dominant negative manner.

            • Review Article

              Genomic Medicine: Genomics and Perinatal Care

              Among both prospective parents and providers of medical care, genetic and social concerns peak during the perinatal period. Advances in genomics and assisted reproductive technology have created new opportunities to detect genetic disorders and susceptibilities at multiple times during perinatal…

              • January 5, 2012
              • Bodurtha J. and Strauss J.F.
              • N Engl J Med 2012; 366:64 - 73
              • Free Full Text
              • Interactive/Multimedia

              Advances in genomic technologies and methods of assisted reproduction have opened up new possibilities for testing and screening of prospective parents, their fertilized eggs, their fetuses, and their newborn babies.

            • Review Article

              Medical Progress: Focal Segmental Glomerulosclerosis

              Focal segmental glomerulosclerosis accounts for approximately 20% of cases of the nephrotic syndrome in children and 40% of such cases in adults, with an estimated incidence of 7 per 1 million. It is the most common primary glomerular disorder causing end-stage renal disease in the United States,…

              • December 22, 2011
              • D'Agati V.D., Kaskel F.J., Falk R.J.
              • N Engl J Med 2011; 365:2398 - 2411
              • CME

              Focal segmental glomerulosclerosis, which is characterized by progressive glomerular scarring, accounts for about 20% of cases of the nephrotic syndrome in children and 40% in adults. This review considers current approaches to diagnosis and management of the disease.

            • Correspondence

              Vemurafenib for Melanoma Metastases to the Brain

              To the Editor: Vemurafenib is an inhibitor of the BRAF V600E mutation and has recently been approved by the Food and Drug Administration (FDA) for treatment of metastatic melanoma in adults in the absence of brain metastases.– Trials are currently under way involving the use of vemurafenib for…

              • December 22, 2011
              • N Engl J Med 2011; 365:2439 - 2441
              • Free Full Text

              A 16-year-old girl had melanoma with the BRAF V600E mutation that metastasized to the brain. The response to vemurafenib was dramatic, and the patient continues to improve 6 months after starting therapy.

            • Clinical Implications of Basic Research

              Microtubules, Axonal Transport, and Neuropathy

              A physical dimension of a cell is seldom its Achilles' heel. Yet for the neurons that are affected in most kinds of peripheral neuropathy, it is the length of their axons that best accounts for their selective vulnerability. As shown in Figure 1, the axon is contiguous with its cell soma. The soma…

              • December 15, 2011
              • Holzbaur E.L.F. and Scherer S.S.
              • N Engl J Med 2011; 365:2330 - 2332

                Understanding the function of proteins rendered mutant in disease provides insight into the mechanism of disease. Recent studies implicate the axonal cytoskeleton in neuropathies.

              • Images in Clinical Medicine

                Thrombosis of a Mechanical Mitral Valve

                Figure 1.

                • December 15, 2011
                • Harris K.C. and Campbell A.I.M.
                • N Engl J Med 2011; 365:e45
                • Free Full Text
                • Video

                An 8-year-old girl with a history of congenital mitral stenosis and mitral-valve replacement presented with dyspnea on exertion, fatigue, and orthopnea. On examination, she had tachypnea, a heart rate of 130 bpm, and oxygen saturation of 85 to 87% while breathing ambient air.

              • Case Records of the Massachusetts General Hospital

                Case 37-2011 — A 9-Month-Old Boy with Recurrent Tachypnea and Respiratory Distress

                Presentation of Case. Dr. Sze Man Tse (Pediatrics): A male infant was admitted to this hospital at the age of 5.5 months, because of tachypnea and respiratory distress. The patient had been well until 2 days earlier, when cough and somnolence developed. The night before admission, the temperature…

                • December 8, 2011
                • Kinane T.B., Shailam R., Mark E.J.
                • N Engl J Med 2011; 365:2221 - 2228

                  A 9-month-old boy had had recurrent episodes of tachypnea and respiratory distress since he was 5.5 months of age, with expiratory wheezing and fine crackles on auscultation, hyperinflation on chest radiography, and bilateral ground-glass opacities on CT.

                • Correspondence

                  Intussusception after Rotavirus Vaccination — Spontaneous Reports

                  To the Editor: Patel et al. report an increased risk of intussusception after rotavirus vaccination. We conducted a case-series analysis of 151 spontaneous reports of intussusception worldwide after administration of the rotavirus vaccine RV1 (Rotarix, GlaxoSmithKline Biologicals). On the basis of…

                  • December 1, 2011
                  • N Engl J Med 2011; 365:2139
                  • Free Full Text

                  To the Editor: Patel et al. report an increased risk of intussusception after rotavirus vaccination.1 We conducted a case-series analysis2 of 151 spontaneous reports of intussusception worldwide after administration of the rotavirus vaccine RV1 (Rotarix, ...

                • Original Article

                  Daily or Intermittent Budesonide in Preschool Children with Recurrent Wheezing

                  Recurrent wheezing episodes in preschool-age children are usually triggered by respiratory tract infections,, which often progress to severe exacerbations requiring systemic glucocorticoids and frequent use of health care services. In children under the age of 5 years who had at least four wheezing…

                  • November 24, 2011
                  • Zeiger R.S., Mauger D., Bacharier L.B., et al.
                  • N Engl J Med 2011; 365:1990 - 2001

                    Guidelines suggest daily inhaled glucocorticoids in young children at high risk for asthma exacerbation. These investigators found that such treatment was not superior to the intermittent use of budesonide initiated when signs and symptoms indicated an impending asthma exacerbation.

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                  European Society of Pediatric Otorhinolaryngology

                  The 11th international congress, entitled "Pediatric Otorhinolaryngology: From Experience-Based to Evidence-Based Practice," will be held in Amsterdam, May 20-23, 2012.

                  Contact Congress Meeting Services Holland, P.O. Box 18, 5298 ZG Liempde, the Netherlands; or call (31) 411 611199; or fax (31) 411 633805; or e-mail info@congresservice.nl; or see http://www.espo2012.com .

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