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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…
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…
- CME
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…
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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…
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…
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Images in Clinical Medicine
Bryant's and Stabler's Signs after a Difficult Delivery
Figure 1.
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Correspondence
Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome
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…
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Original Article
Brief Report: Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
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…
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Original Article
Oral Acyclovir Suppression and Neurodevelopment after Neonatal Herpes
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…
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Editorial
Neonatal Herpes Simplex Infection and the Three Musketeers
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…
Original Article
Treatment of Neonatal Sepsis with Intravenous Immune Globulin
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…
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Editorial
Progress in Understanding the Hemoglobin Switch
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,…
Original Article
A Functional Element Necessary for Fetal Hemoglobin Silencing
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.–…
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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
Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns
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…
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- CME
Perspective
The Long-Term Effects of In Utero Exposures — The DES Story
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…
Original Article
Bacterial Meningitis in the United States, 1998–2007
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…
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Original Article
Brief Report: A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia
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…
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Original Article
A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele
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…
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