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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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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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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.

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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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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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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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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…
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 2-2012 — A 63-Year-Old Woman with Dyspnea and Rapidly Progressive Respiratory Failure
Presentation of Case. Dr. Susan K. Mathai (Internal Medicine): A 63-year-old woman was admitted to this hospital because of rapidly progressive respiratory failure. The patient had a history of Poland syndrome (agenesis of the right breast, pectoralis muscle, and the third and fourth costal…
A 63-year-old woman was admitted to the hospital because of respiratory failure. She had a history of granulomatous polyangiitis and a breast implant that had recently become painful. Imaging revealed bilateral pulmonary infiltrates and a soft-tissue mass extending from the implant through the chest wall.
Correspondence
Generalizing Lung-Cancer Screening Results
To the Editor: The results of the National Lung Screening Trial (NLST) (ClinicalTrials.gov number, NCT00047385) (Aug. 4 issue) showed that screening of high-risk persons is very effective in reducing mortality from lung cancer. Persons with a history of cigarette smoking of at least 30 pack-years…
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Investigators in the Rotterdam Study note that only about 30% of their study population met the entry criteria for the National Lung Screening Trial (NLST). Others at some risk were excluded; whether the 20% reduction in mortality seen in the NLST will transfer to other risk groups is unclear.
Images in Clinical Medicine
Lung Herniation after Cough-Induced Rupture of Intercostal Muscle
Figure 1.
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Clinical Problem-Solving
Breathless
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 50-year-old woman was admitted…
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Original Article
Low-Molecular-Weight Heparin and Mortality in Acutely Ill Medical Patients
Venous thromboembolism is an important complication in hospitalized patients.– It is estimated that if thromboprophylaxis is not administered, objectively diagnosed deep-vein thrombosis — with the potential for fatal pulmonary embolism — will develop in 10 to 20% of medical patients and in 40…
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Perspective
Smoking and the First Amendment
On June 22, 2009, President Barack Obama signed the Family Smoking Prevention and Tobacco Control Act into law. For the first time, Congress had given the Food and Drug Administration (FDA) authority to directly regulate tobacco products, with the aim of improving public health. And indeed,…
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Interactive Medical Case
Breathless
A 50-year-old woman presented with fatigue and shortness of breath. One week before presentation, she experienced the gradual onset of dyspnea after moderate exertion, profound malaise, and a non-productive cough. In the 48 hours before admission, her shortness of breath worsened, such that she was…
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A 50-year-old woman presented with fatigue and shortness of breath. One week before presentation, she experienced the gradual onset of dyspnea after moderate exertion, profound malaise, and a non-productive cough. In the 48 hours before admission, her ...
Case Records of the Massachusetts General Hospital
Case 39-2011 — A Woman in Her 90s with Unilateral Ptosis
Presentation of Case. Dr. Xuemei Cai (Medicine): A woman in her 90s was seen in the emergency department at this hospital because of ptosis of the left eyelid. The patient had been in her usual health until 4 days earlier when, on awakening, she was unable to open her left eye. She reported no…
Original Article
CPAP for the Metabolic Syndrome in Patients with Obstructive Sleep Apnea
Obstructive sleep apnea is a highly prevalent but underrecognized clinical problem. The Wisconsin Sleep Cohort Study estimated a prevalence of 24% among men and 9% among women in that state. In an urban setting in northern India, the prevalence of obstructive sleep apnea and the obstructive sleep…
Perspective
The Risks and Benefits of Indacaterol — The FDA's Review
In July 2011, the Food and Drug Administration (FDA) approved Arcapta Neohaler (indacaterol maleate powder), a long-acting beta-agonist (LABA), at a dose of 75 μg once daily as a bronchodilator for patients with chronic obstructive pulmonary disease (COPD). Since the European Medicines Agency (EMA)…
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Images in Clinical Medicine
Disappearance of a Breast Prosthesis during Pilates
Figure 1.
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Case Records of the Massachusetts General Hospital
Case 38-2011 — A 34-Year-Old Man with Diarrhea and Weakness
Presentation of Case. Dr. Andrew Courtwright (Medicine): A 34-year-old man was admitted to this hospital because of diarrhea and weakness. Three days before admission, weakness developed in the patient's right hand, followed by increasing weakness in the left hand. During the next 2 days, weakness…
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Special Article
The Relationship between Hospital Admission Rates and Rehospitalizations
Unplanned readmissions after hospitalization are costly and reflect suboptimal patient outcomes. Policymakers have focused on reducing readmissions as a way to both lower costs and improve outcomes. Evidence of suboptimal care at hospital discharge and shortly thereafter, has prompted clinical…
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Hospital readmission rates are thought to reflect the quality of transitional care. In this study, readmission rates for congestive heart failure and pneumonia were associated with overall hospitalization rates. Interventions may best be focused on reducing incentives to use hospital services.








