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Original Article
Effect of Estrogen on Pseudomonas Mucoidy and Exacerbations in Cystic Fibrosis
Pseudomonas aeruginosa is a gram-negative opportunistic pathogen associated with cystic fibrosis, a multisystem genetic disease characterized by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which results in recurrent infective exacerbations. Median overall…
- May 24, 2012
- Chotirmall S.H., Smith S.G., Gunaratnam C., et al.
- N Engl J Med 2012; 366:1978-1986
Pseudomonas aeruginosa is an important pathogen in patients with cystic fibrosis. In this report, data suggest that estrogen may play a role in the modulation of virulence factors in P. aeruginosa and thus affect clinical exacerbations in women with cystic fibrosis.
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Images in Clinical Medicine
Meconium-like Ileus in Cystic Fibrosis
Figure 1.
- May 24, 2012
- Lin L.-Y. and Wong J.-U.
- N Engl J Med 2012; 366:2017
- Free Full Text
A 19-year-old woman with type 1 diabetes mellitus and suspected cystic fibrosis presented with a 1-day history of acute abdominal pain. Plain radiography revealed a typical mechanical obstruction.
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Images in Clinical Medicine
Aquagenic Wrinkling of Palms in Cystic Fibrosis
Figure 1.
- May 24, 2012
- Weibel L. and Spinas R.
- N Engl J Med 2012; 366:e32
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A 17-year-old girl presented with a 10-year history of transient excessive wrinkling of her palms after brief exposure to water and sweating. She reported some uncomfortable tightness of the skin during these epi¬sodes.
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Clinical Problem-Solving
Whistling in the Dark
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 38-year-old woman living in…
- May 3, 2012
- Solomon D.A., Fanta C.H., Levy B.D., Loscalzo J.
- N Engl J Med 2012; 366:1725-1730
- CME
Shortness of breath, fever, and cough productive of yellow sputum developed in a 38-year-old woman soon after the birth of her third child. Although her symptoms initially resolved with antibiotics, an intermittent nonproductive cough, wheezing, and shortness of breath soon followed.
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Original Article
Brief Report: Integrin α₃ Mutations with Kidney, Lung, and Skin Disease
Epithelial–mesenchymal interactions are important in the development and tissue homeostasis of many multicompartment organs, such as the kidneys, lungs, and skin. Adhesion of epithelial cells to basement membranes provides the structural and functional integrity of the organs. Cues from the…
- April 19, 2012
- Has C., Spartà G., Kiritsi D., et al.
- N Engl J Med 2012; 366:1508-1514
Three patients with homozygous mutations in the integrin α3 gene, a transmembrane integrin receptor subunit, were found to have disrupted basement-membrane structures causing congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa.
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Interactive Medical Case
Whistling in the Dark
A 38-year-old woman in Florida presented to her primary care physician with shortness of breath, fever, and a cough productive of yellow sputum. She was treated empirically with antibiotics for a presumed respiratory tract infection, and her symptoms resolved. She returned a few weeks later with an…
- April 12, 2012
- Vaidya A., Solomon D.A., Fanta C.H.
- N Engl J Med 2012; 366:e24
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- CME
A 38-year-old woman had shortness of breath, fever, and cough with yellow sputum soon after childbirth. Her symptoms initially resolved with antibiotics, but she soon had nonproductive cough, wheeze, and shortness of breath. Test your diagnostic and therapeutic skills at NEJM.org.
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Original Article
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity from loss-of-function mutations, typically missense, within the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Natural substrates of TNSALP that accumulate…
- March 8, 2012
- Whyte M.P., Greenberg C.R., Salman N.J., et al.
- N Engl J Med 2012; 366:904-913
- Video
In this study of perinatal and infantile hypophosphatasia, patients received ENB-0040, a bone-targeted, recombinant, human tissue-nonspecific isozyme of alkaline phosphatase that is lacking in this disease. Rickets healed, and developmental milestones and pulmonary function improved.
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Review Article
Current Concepts: Dysfunction of the Diaphragm
The diaphragm is the dome-shaped structure that separates the thoracic and abdominal cavities. It is the principal muscle of respiration, is innervated by the phrenic nerves that arise from the nerve roots at C3 through C5, and is primarily composed of fatigue-resistant slow-twitch type I and fast…
- March 8, 2012
- McCool F.D. and Tzelepis G.E.
- N Engl J Med 2012; 366:932-942
- CME
- Video
Dysfunction of one or both hemidiaphragms is an underdiagnosed cause of dyspnea. Weakness or paralysis may be seen during mechanical ventilation, after surgery or trauma, with metabolic or inflammatory disorders, and with myopathy, neuropathy, or diseases causing lung hyperinflation.
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Images in Clinical Medicine
Sigmoid Perforation in Association with Colonoscopy
Figure 1.
- February 23, 2012
- Lu A. and Aronowitz P.
- N Engl J Med 2012; 366:744
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A 74-year-old woman was undergoing a screening colonoscopy when it became apparent that the rectosigmoid junction might have become perforated. The procedure was terminated, and radiographs were obtained.
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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…
- 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.
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Images in Clinical Medicine
Deep Sulcus Sign
Figure 1.
- February 9, 2012
- Sabbar S. and Nilles E.J.
- N Engl J Med 2012; 366:552
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A 23-year-old man who been a passenger in a minivan was brought to the ER after a high-speed road accident. He had transient hypotension and tachycardia, which improved after the administration of intravenous fluids.
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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…
- January 19, 2012
- Kotton D.N., Muse V.V., Nishino M.
- N Engl J Med 2012; 366:259-269
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.
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Images in Clinical Medicine
Paragonimiasis
Figure 1.
- January 12, 2012
- Arango Barrientos M. and Uriza Carrasco A.
- N Engl J Med 2012; 366:165
- Free Full Text
An 18-year-old man presented with a 1-year history of episodic hemoptysis. He otherwise felt well, with no dyspnea, fever, night sweats, weight loss, pedal edema, rash, or evidence of bleeding elsewhere. He took no medications. Laboratory examination ...
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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…
- January 12, 2012
- N Engl J Med 2012; 366:192-193
- Free Full Text
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.
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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…
- January 5, 2012
- Gavin M.C., Morse D., Partridge A.H., Levy B.D., Loscalzo J.
- N Engl J Med 2012; 366:75-81
- CME
- Video
A 50-year-old woman presented with fatigue and shortness of breath. Dyspnea after moderate exertion had developed gradually, along with profound malaise and a nonproductive cough. In the 48 hours before admission, her shortness of breath had worsened.
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Images in Clinical Medicine
Lung Herniation after Cough-Induced Rupture of Intercostal Muscle
Figure 1.
- January 5, 2012
- O'Shea M. and Cleasby M.
- N Engl J Med 2012; 366:74
- Free Full Text
A 40-year-old woman with asthma presented with pleuritic chest pain of acute onset. She had been coughing markedly for 2 weeks and had been treated with antibiotics for a lower respiratory tract infection. There was no history of trauma.
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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…
- December 22, 2011
- Ross J.J., Vaidya A., Gavin M.C., Morse D., Partridge A.H.
- N Engl J Med 2011; 365:e47
- Free Full Text
- CME
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 ...
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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,…
- December 22, 2011
- Outterson K.
- N Engl J Med 2011; 365:2351-2353
- Free Full Text
On November 7, a federal judge in Washington, D.C., issued a preliminary injunction blocking some key provisions of the Family Smoking Prevention and Tobacco Control Act as unconstitutional restrictions on commercial speech. The battle may end up in the Supreme Court.
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Images in Clinical Medicine
Disappearance of a Breast Prosthesis during Pilates
Figure 1.
- December 15, 2011
- Fong T.C. and Hoffmann B.
- N Engl J Med 2011; 365:2305
- Free Full Text
A 59-year-old woman with a history of breast cancer who had undergone bilateral mastectomy and placement of breast prostheses reported that her “body swallowed one of the implants” during a Pilates stretching exercise. The patient reported no chest pain or dyspnea.
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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…
- December 15, 2011
- Epstein A.M., Jha A.K., Orav E.J.
- N Engl J Med 2011; 365:2287-2295
- Free Full Text
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.
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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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