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Clinical Implications of Basic Research
A Muscular Twist on the Fate of Fat
Hippocrates observed that "walking is man's best medicine" and thus underscored the benefits of physical activity to health. More than two millennia later, the benefits of physical activity in lowering the risk of death from any cause and improving longevity have been well documented. Scientists…
Correspondence
Clinical Phenotype and Mutant TRα1
To the Editor: The action of thyroid hormone, which is essential for normal development and metabolism, is largely mediated by the binding of triiodothyronine (T3) to nuclear receptors (TRs), changing the expression of the genes responsive to thyroid hormone. Different TR isoforms are generated by…
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Original Article
Brief Report: Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
It is still unknown how puberty in humans, occurring during the early years of the second decade of life, is initiated. The hallmark of puberty is increased secretion of the gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), which act in concert to stimulate the gonads…
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…
- CME
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Review Article
Mechanisms of Disease: Proprotein Convertases in Health and Disease
Secretory proteins, such as hormones, enzymes, and receptors, constitute a broad group of biochemically active molecules that are essential for cellular function. Post-translational processing of their precursor molecules, which occurs through endoproteolytic cleavage, results in the formation of…
Clinical Practice
Primary Hyperparathyroidism
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 62-year-old…
- CME
- Full Text Audio
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…
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…
Original Article
Long-Term Persistence of Hormonal Adaptations to Weight Loss
Worldwide, there are more than 1.5 billion overweight adults, including 400 million who are obese. Although dietary restriction often results in initial weight loss, the majority of obese dieters fail to maintain their reduced weight. Understanding the barriers to maintenance of weight loss is…
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Interactive Medical Case
A Bird's-Eye View of Fever
A 78-year-old man presented to his primary care physician with a 4-month history of worsening fatigue, generalized weakness, and anorexia, with an unintentional weight loss of 11.4 kg (25 lb). He reported subjective fevers, chills, drenching night sweats, dry mouth, a nonproductive cough, dyspnea…
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- CME
A 78-year-old man presented with four months of worsening fatigue, generalized weakness, and anorexia with an unintentional weight loss of 25 pounds (11.4 kg). He reported subjective fevers, chills, drenching night sweats, dry mouth, nonproductive cough, ...
Clinical Problem-Solving
A Problem in Gestation
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 39-year-old woman (gravida 2,…
- CME
Correspondence
The Parathyroid as a Target for Radiation Damage
To the Editor: Exposure to radiation may result in late adverse effects. Here we describe the consequences of irradiation for the endocrine system, particularly the parathyroid glands, in a cohort of 61 "liquidators," or cleanup workers, who participated in the effort to contain the contamination…
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Interactive Medical Case
A Problem in Gestation
A 39-year-old woman (gravida 2, para 0) presented to her obstetrician at 32 weeks of gestation with pain in her lower back that began 2 days earlier. The pain was abrupt in onset and constant; she reported no fever, chills, nausea, vomiting, dysuria, urinary frequency, hematuria, vaginal bleeding,…
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- CME
A 39-year-old woman (gravida 2, para 0) presented to her obstetrician at 32 weeks of gestation with pain in her lower back that began 2 days earlier. The pain was abrupt in onset and constant; she reported no fever, chills, nausea, vomiting, dysuria, ...
Review Article
Franklin H. Epstein Lecture: Sirtuins, Aging, and Medicine
Foreword. Franklin H. Epstein, M.D. served the New England Journal of Medicine for more than 20 years. A keen clinician, accomplished researcher, and outstanding teacher, Dr. Epstein was Chair and Professor of Medicine at Beth Israel Deaconess Medical Center, Boston, where the Franklin H. Epstein,…
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…
Correspondence
Glycerol Kinase Deficiency in Adult Hypoglycemic Acidemia
To the Editor: A 26-year-old man was admitted to the emergency room with impaired consciousness. The night before he became ill, he had ingested some alcohol, but not an excessive amount. About 24 hours later, he was found unconscious and cold in his bed. In the emergency room, his plasma glucose…
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Correspondence
Calcitonin Administration in X-Linked Hypophosphatemia
To the Editor: In X-linked hypophosphatemia, phosphate wasting results from increased circulating levels of fibroblast growth factor 23 (FGF-23). Administration of calcitonin to a patient with oncogenic osteomalacia caused a drop in serum levels of FGF-23. We wondered whether calcitonin might have…
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Review Article
Mechanisms of Disease: Ciliopathies
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases…
- CME
Review Article
Current Concepts: The Gulf Oil Spill
One year after the Gulf oil spill (also known as the Deepwater Horizon oil spill, the BP oil spill, or the Gulf of Mexico oil spill), the full magnitude of the environmental, economic, and human health effects of this major disaster remain unknown. Despite a growing literature describing the impact…
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