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Estrogen and Pseudomonas Exacerbations in CF
original article
Published Online: May 20, 2012

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.

Meconium-like Ileus in Cystic Fibrosis
images in clinical medicine

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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Preimplantation Genetic Screening and Diagnosis
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Maternal genetic contributions and the genetic status of the embryo can be analyzed by several methods, including fluorescence in situ hybridization, PCR assay, 24-chromosome single-nucleotidepolymorphism array, and comparative genomic hybridization.

A Woman with HER2-Positive Breast Cancer
case records of the massachusetts
general hospital

A 32-year-old woman noted a crease in her right breast. Imaging studies showed a suspicious mass, and a biopsy specimen revealed infiltrating ductal carcinoma, positive for HER2. Staging showed liver lesions consistent with metastases. Management decisions were made.

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Aquagenic Wrinkling of Palms in Cystic Fibrosis
images in clinical medicine

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 episodes.

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original article

A 17-year-old girl, who had lifelong recurrent suppurative infections, was identified as having chronic granulomatous disease by the nitroblue tetazolium (NBT) test.

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  • Case Records of the Massachusetts General Hospital

    Presentation of Case. Dr. Steven Jay Isakoff (Hematology–Oncology): A 32-year-old woman was seen in the outpatient cancer center at this hospital because of infiltrating ductal carcinoma of the right breast. The patient had been well until 2 months before admission, when she became aware of a…

    • May 24, 2012
    • Baselga J., Smith B.L., Rafferty E.A., Bombonati A.
    • N Engl J Med 2012; 366:2018-2026
    • CME

    A 32-year-old woman noted a crease in her right breast. Imaging studies showed a suspicious mass, and a biopsy specimen revealed infiltrating ductal carcinoma, positive for HER2. Staging showed liver lesions consistent with metastases. Management decisions were made.

  • Images in Clinical Medicine

    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.

  • Images in Clinical Medicine

    Figure 1.

    • May 24, 2012
    • Lin L.-Y. and Wong J.-U.
    • N Engl J Med 2012; 366:2017
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    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.

  • Original Article

    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.

    • Correspondence

      To the Editor: Hairy-cell leukemia (HCL) is a mature B-cell lymphoid cancer that is commonly treated with purine analogues. Virtually all patients with HCL carry the BRAF V600E mutation, which constitutively activates the MEK–ERK pathway and which can be inhibited in vitro by the mutation…

      • May 24, 2012
      • N Engl J Med 2012; 366:2038-2040
      • Free Full Text

      The authors report a dramatic response to vemurafenib in a patient with hairy-cell leukemia refractory to nucleosides and rituximab.

    • Original Article

      T-cell large granular lymphocytic leukemia was initially described as a clonal disorder of large granular lymphocytes involving blood, bone marrow, spleen, and liver. This disorder is characterized by the presence of abnormal CD3+CD8+CD57+ lymphocytes corresponding to activated effector cytotoxic T…

      • May 17, 2012
      • Koskela H.L.M., Eldfors S., Ellonen P., et al.
      • N Engl J Med 2012; 366:1905-1913

        T-cell large granular lymphocytic leukemia, a rare clonal cancer with indolent growth characteristics, is often associated with autoimmune disease and neutropenia. According to an international group of collaborators, 40% of patients have somatic mutations that activate STAT3.

      • Clinical Implications of Basic Research

        For the past couple of decades, clinicians have watched the stem-cell field with a mixture of anticipation and skepticism. No group of patients has been more expectant than those with spinal cord injuries. Therapies for spinal cord injury have been promised almost since the dawning of the stem-cell…

        • May 17, 2012
        • Snyder E.Y. and Teng Y.D.
        • N Engl J Med 2012; 366:1940-1942

          For the past couple of decades, clinicians have watched the stem-cell field with a mixture of anticipation and skepticism. No group of patients has been more expectant than those with spinal cord injuries. Therapies for spinal cord injury have been ...

        • Clinical Implications of Basic Research

          Generations of evolutionary pressure have honed a human immune system that is well poised to combat infectious challenges. However, the very same system can turn against us when it is activated by certain noxious stimuli, as is the case with cholesterol-laden meals triggering atherosclerosis.…

          • May 3, 2012
          • Gerszten R.E. and Tager A.M.
          • N Engl J Med 2012; 366:1734-1736

            The accrual of cholesterol-laden macrophages in the atherosclerotic plaque is a critical event that precedes plaque rupture. The guidance molecule netrin-1 mediates this accrual in a mouse model of atherosclerosis.

          • Original Article

            Chronic diarrhea is a health problem that poses challenges with respect to both diagnosis and treatment. The irritable bowel syndrome affects 15 to 20% of adults and is a common cause of diarrhea. Other causes include inflammatory bowel disease, infections, paraneoplastic hormones, celiac disease,…

            • April 26, 2012
            • Fiskerstrand T., Arshad N., Haukanes B.I., et al.
            • N Engl J Med 2012; 366:1586-1595

              Heat-stable enterotoxin induces diarrhea by activating guanylate cyclase (GC-C) on enterocytes, resulting in the secretion of water into the intestinal lumen. This study shows that an activating mutation affecting GC-C also produces this effect.

            • Original Article

              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.

              • Review Article

                The impact of certain skin diseases on the lives of those affected tends to be underestimated or even dismissed as simply a "cosmetic problem." Alopecia areata exemplifies such a condition, owing to its substantial disease burden and its often devastating effects on the patient's quality of life…

                • April 19, 2012
                • Gilhar A., Etzioni A., Paus R.
                • N Engl J Med 2012; 366:1515-1525
                • CME

                This review article synthesizes relevant information about hair-follicle biology and pathobiology and summarizes the clinical presentation and management of this common condition.

              • Correspondence

                To the Editor: Telomeres protect the ends of chromosomes from erosion; telomerase ensures their integrity. We report a case of familial idiopathic pulmonary fibrosis and bone marrow failure associated with a mutation in telomerase reverse transcriptase (TERT). The patient was a 56-year-old lifelong…

                • April 19, 2012
                • N Engl J Med 2012; 366:1551-1553
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                The authors report on a family with a new mutation in telomerase associated with pulmonary fibrosis and bone marrow failure. What fraction of patients with idiopathic pulmonary fibrosis have telomerase defects has not been defined, but the association should be kept in mind.

              • Clinical Implications of Basic Research

                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…

                • April 19, 2012
                • Pedersen B.K.
                • N Engl J Med 2012; 366:1544-1545

                  A recent study reveals a biochemical mechanism that underlies the effect of exercise on glucose metabolism and weight loss. The mechanism involves irisin, a molecule secreted by skeletal muscle in response to exercise.

                • Correspondence

                  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…

                  • April 12, 2012
                  • N Engl J Med 2012; 366:1451-1453
                  • Free Full Text

                  A father and daughter with a mutation in the nuclear receptor gene for thyroid hormone (THRA) have abnormal levels of thyroid hormone, normal thyrotropin levels, growth retardation, and mildly delayed motor and cognitive development.

                • Original Article

                  Current treatment for acute lymphoblastic leukemia (ALL) can effect a cure in approximately 80% of children with the disease.– The leading cause of treatment failure is relapse, for which a number of risk factors have been identified, with inadequate therapy being one of the most important.– A…

                  • April 12, 2012
                  • Schrappe M., Hunger S.P., Pui C.-H., et al.
                  • N Engl J Med 2012; 366:1371-1381

                    Induction chemotherapy fails to induce a complete remission in only about 2 to 3% of children with ALL. In an analysis of more than 1000 such patients, the authors defined subgroups with a favorable prognosis and those with an unfavorable prognosis.

                  • Editorial

                    Approximately 80% of children with acute lymphoblastic leukemia (ALL) are now cured, with estimates that contemporary treatment may further increase the cure rate to near 90%. Yet this figure is deceptive; for those children with unfavorable features, defined either by disease biology or by…

                    • April 12, 2012
                    • Rabin K.R.
                    • N Engl J Med 2012; 366:1445-1446

                      Approximately 80% of children with acute lymphoblastic leukemia (ALL) are now cured, with estimates that contemporary treatment may further increase the cure rate to near 90%.1 Yet this figure is deceptive; for those children with unfavorable features, ...

                    • Clinical Implications of Basic Research

                      As the incidence of type 2 diabetes increases, new treatments are clearly needed. Many hormones and drugs that control metabolic pathways function as agonists or antagonists of nuclear receptors, which constitute a family of ligand-activated transcription factors. Included in this family, among…

                      • April 5, 2012
                      • Hollenberg A.N.
                      • N Engl J Med 2012; 366:1345-1347

                        Thiazolidinediones activate the nuclear receptor PPAR-γ, which brings about increased glucose tolerance and glucose sensitivity. Endogenous ligand can achieve the same effect under certain conditions, suggesting a different approach to activating the same pathway.

                      • Review Article

                        Until recently, the treatment for diabetic retinopathy relied almost exclusively on managing the metabolic dysregulation of diabetes mellitus until the severity of vascular lesions warranted laser surgery. Intensive metabolic control remains a highly effective means of controlling retinopathy and…

                        • March 29, 2012
                        • Antonetti D.A., Klein R., Gardner T.W.
                        • N Engl J Med 2012; 366:1227-1239
                        • CME

                        The incidence of diabetes is increasing, but that of diabetic retinopathy is falling, probably owing to better management of glucose levels, lipid abnormalities, and hypertension. Clinical trials of VEGF and PPAR-α inhibitors are improving vision and providing insights into pathogenesis.

                      • Original Article

                        Podoconiosis (endemic nonfilarial elephantiasis) is a noninfectious geochemical disease that results in bilateral swelling of the lower legs (Figure 1). It is found among subsistence farmers whose feet are exposed over many years to red-clay soil derived from volcanic rock. Podoconiosis is an…

                        • March 29, 2012
                        • Tekola Ayele F., Adeyemo A., Finan C., et al.
                        • N Engl J Med 2012; 366:1200-1208

                          Podoconiosis is a tropical form of noninfectious lymphedema associated with exposure to red-clay soil. It affects over 4 million people and is associated with substantial morbidity. In this genomewide association study in Ethiopia, associations were identified in two HLA class II loci.

                        • Original Article

                          The myelodysplastic syndromes, a heterogeneous group of diseases characterized by ineffective hematopoiesis, are the most common cause of acquired bone marrow failure in adults. Secondary acute myeloid leukemia (AML) develops in approximately one third of persons with myelodysplastic syndromes.…

                          • March 22, 2012
                          • Walter M.J., Shen D., Ding L., et al.
                          • N Engl J Med 2012; 366:1090-1098

                            Whole-genome sequencing of samples from seven subjects with secondary acute myeloid leukemia identified somatic mutations. These data, together with genotype analysis of the antecedent myelodysplastic syndromes (MDS), revealed the clonal evolution of MDS and secondary AML.

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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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