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  • Images in Clinical Medicine

    Figure 1.

    • March 8, 2012
    • Aalaa M. and Mohajeri-Tehrani M.R.
    • N Engl J Med 2012; 366:943
    • Free Full Text

    A 12-year-old girl presented with a lump in her neck. She had previously been found to have hypothyroidism and had been treated with levothyroxine.

  • Clinical Implications of Basic Research

    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.

    • Original Article

      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.

    • Correspondence

      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
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      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

      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.

      • Review Article

        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
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        • 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.

      • Images in Clinical Medicine

        Figure 1.

        • November 10, 2011
        • Heyman S.R.G. and Vervloessem D.
        • N Engl J Med 2011; 365:1824
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        A neonate presented after birth with scrotal and right inguinal ecchymosis. He had been born at term after a difficult vaginal delivery that ultimately required both fundal pressure and vacuum extraction. The thorax was not manipulated during birth.

      • Correspondence

        To the Editor: The definitive diagnosis of fetal aneuploidy and genomic imbalances requires invasive collection of fetal cells through amniocentesis or chorionic villus sampling. These methods are associated with fetal loss and parental anxiety. Analyses of DNA in maternal plasma have shown the…

        • November 10, 2011
        • N Engl J Med 2011; 365:1847-1848
        • Free Full Text

        This proof-of-principle study shows that it is possible to detect a genetic microdeletion carried by a fetus through analysis of DNA in circulating maternal blood.

      • Original Article

        Inflammatory disorders of the skin and gut, including eczema, psoriasis, and celiac disease, have been linked to changes in barrier function and immune responses, by means of genetic and functional studies. Large case–control studies combined with genomewide association studies have identified…

        • October 20, 2011
        • Blaydon D.C., Biancheri P., Di W.-L., et al.
        • N Engl J Med 2011; 365:1502-1508
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        A mutation that abrogates the function of ADAM17, an enzyme that cleaves cell-surface proteins such as tumor necrosis factor α, was found to be associated with inflammatory skin and bowel disease in a pair of siblings.

      • Images in Clinical Medicine

        Figure 1.

        • October 6, 2011
        • Tsai M.-S. and Yeh M.-L.
        • N Engl J Med 2011; 365:1328
        • Free Full Text

        A 1-day-old male neonate was evaluated for a 2.5-cm mass arising from the umbilicus. The mass was covered in granulation tissue. When the patient cried, straw-colored fluid leaked intermittently from an orifice in the lesion.

      • Original Article

        The outcomes of neonatal herpes simplex virus (HSV) disease are dependent on the extent of the disease. Approximately 30% of babies with disseminated disease die, but only 20% of survivors have neurologic sequelae. In contrast, only 6% of babies with central nervous system (CNS) disease die, but…

        • October 6, 2011
        • Kimberlin D.W., Whitley R.J., Wan W., et al.
        • N Engl J Med 2011; 365:1284-1292
        • Free Full Text

        Neonates with HSV and CNS involvement or skin, eye, and mouth disease were treated with IV acyclovir for 2 to 3 weeks, then acyclovir suppressive therapy or placebo for 6 months. Infants receiving acyclovir suppressive therapy had better neurodevelopmental outcomes.

      • Editorial

        Metaphorically, the Three Musketeers can represent our defenses against viral pathogens. Actually, there were four Musketeers; the hero D'Artagnan was an add-on. In Dumas's novel, the Musketeers' motto, "one for all and all for one," indicated a synergistic approach. Our four antiviral defenses…

        • October 6, 2011
        • Gershon A.A.
        • N Engl J Med 2011; 365:1338-1339

          Metaphorically, the Three Musketeers can represent our defenses against viral pathogens. Actually, there were four Musketeers; the hero D'Artagnan was an add-on. In Dumas's novel, the Musketeers' motto, “one for all and all for one,” indicated a ...

        • Original Article

          Infection is a major cause of death in newborn infants. Neonatal infection and inflammation are associated with serious complications, including brain damage and disability, particularly among preterm infants.– Polyvalent IgG immune globulin may help to prevent or treat infection, particularly in…

          • September 29, 2011
          • The INIS Collaborative Group
          • N Engl J Med 2011; 365:1201-1211
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          The potential role of IV immune globulin in the management of neonatal sepsis has been suggested by several retrospective studies. In this international study involving 3493 infants with sepsis, IV immune globulin was not found to have any clinical benefit.

        • Editorial

          During fetal development and the first 6 months of neonatal life, a complex pattern of globin gene expression occurs called the hemoglobin switch (Figure 1). After a brief period of embryonic globin gene expression, the γ-globin chain of fetal hemoglobin (HbF, or α2γ2) is predominantly expressed,…

          • September 1, 2011
          • Forget B.G.
          • N Engl J Med 2011; 365:852-854

            During fetal development and the first 6 months of neonatal life, a complex pattern of globin gene expression occurs called the hemoglobin switch (Figure 1). After a brief period of embryonic globin gene expression, the γ-globin chain of fetal hemoglobin (...

          • Original Article

            Regulation of the switch from fetal hemoglobin (γ-globin) to adult hemoglobin in humans has been of long-standing interest, given the potential for the understanding of this process to inform the development of therapeutic approaches to fetal hemoglobin induction in the β-hemoglobinopathies.–…

            • September 1, 2011
            • Sankaran V.G., Xu J., Byron R., et al.
            • N Engl J Med 2011; 365:807-814
            • Free Full Text

            Mapping of the β-globin gene in families with overexpression of fetal hemoglobin (γ-globin) revealed deletions near the δ-globin locus, to which the repressive transcription factor BCL11A binds. Absence of the binding site leads to overexpression of the hemoglobin γ-chain and fetal hemoglobin.

          • Original Article

            Cytomegalovirus (CMV) is a frequent cause of congenital infection and a leading nongenetic cause of sensorineural hearing loss.– In most infants with congenital CMV infection, clinical abnormalities do not manifest at birth; rather, the infection is asymptomatic. However, sensorineural hearing…

            • June 2, 2011
            • Boppana S.B., Ross S.A., Shimamura M., et al.
            • N Engl J Med 2011; 364:2111-2118
            • Free Full Text
            • CME

            In this study of 34,989 births, a PCR-based detection method was found to have reasonable sensitivity and specificity for identifying congenital CMV from either liquid or dried saliva. This advance has implications for a variety of potential detection strategies.

          • Perspective

            It has been 40 years since the Journal published a seminal article by Herbst et al. (1971;284:878-81) noting the association of in utero exposure to a synthetic nonsteroidal estrogen, diethylstilbestrol (DES), and the development of a rare clear-cell adenocarcinoma (CCA) of the vagina in young…

            • June 2, 2011
            • Goodman A., Schorge J., Greene M.F.
            • N Engl J Med 2011; 364:2083-2084

              In 1971, Herbst et al. reported an association between in utero exposure to diethylstilbestrol (DES) and development of clear-cell adenocarcinoma of the vagina — changing medical thinking about embryologic development of the genital tract and mechanisms of carcinogenesis.

            • Original Article

              Studies in the 1970s and 1980s showed that five pathogens (Haemophilus influenzae, Streptococcus pneumoniae, Neisseria meningitidis, group B streptococcus [GBS], and Listeria monocytogenes) caused more than 80% of cases of bacterial meningitis.– Between 1986 and 1995, the incidence of bacterial…

              • May 26, 2011
              • Thigpen M.C., Whitney C.G., Messonnier N.E., et al.
              • N Engl J Med 2011; 364:2016-2025
              • Free Full Text

              The epidemiology of bacterial meningitis is evolving. In this report, over 3000 cases from selected areas of the United States are described; from 1998 to 2007, the incidence of bacterial meningitis decreased by 31%, but the disease still often results in death.

            • Original Article

              Hemoglobin abnormalities, including those resulting from globin-gene mutations, cause a variety of clinical symptoms, including cyanosis. Hemoglobin is a tetramer of two α-like and two β-like globin protein chains, each of which binds one oxygen molecule through an associated heme prosthetic…

              • May 12, 2011
              • Crowley M.A., Mollan T.L., Abdulmalik O.Y., et al.
              • N Engl J Med 2011; 364:1837-1843
              • Free Full Text

              A novel mutation in a Gγ-globin gene (hemoglobin Toms River) causes transient neonatal cyanosis and anemia because of alterations in the oxygen-binding pocket. The hemoglobin binds oxygen slowly and is not fully saturated, but this condition does not cause hypoxemia.

            • Original Article

              Spina bifida is the most common of congenital anomalies of the central nervous system that are compatible with life. The most frequent form is myelomeningocele, characterized by the extrusion of the spinal cord into a sac filled with cerebrospinal fluid, resulting in lifelong disability. Despite…

              • March 17, 2011
              • Adzick N.S., Thom E.A., Spong C.Y., et al.
              • N Engl J Med 2011; 364:993-1004
              • Free Full Text

              In this trial comparing prenatal repair of myelomeningocele with standard postnatal repair, the prenatal-surgery group had better outcomes and better mental and motor function at the age of 30 months. However, these benefits came with some increased risks.

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            Medical Meetings Pediatrics Conferences and Meetings

            2012 Certifying Examinations of the American Board of Pediatrics

            The general pediatrics examination will be held in various cities, Oct. 16-18. Registration for first-time applicants is ongoing through May 3. Registration for re-registrants is ongoing through May 24. The following subspecialty examinations will be held in various cities: "Hospice and Palliative Medicine" (Oct. 4); "Pediatric Transplant Hepatology" (Oct. 11); "Pediatric Cardiology" (Nov. 7); "Pediatric Pulmonology" (Nov. 8); "Medical Toxicology" (Nov. 12); and "Pediatric Critical Care Medicine" (Nov. 14). Registration for first-time applicants is ongoing through April 30. Registration for re-registrants is ongoing through June 15.

            Contact the American Board of Pediatrics, 111 Silver Cedar Court, Chapel Hill, NC 27514-1513; or call (919) 929-0461; or fax (919) 918-7114 or (919) 929-9255; or see http://www.abp.org .

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