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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.

and J.-U. Wong
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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and J.F. Strauss III
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.

general hospital
and Others
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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and R. Spinas
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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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
Case 16-2012 — A 32-Year-Old Woman with HER2-Positive Breast Cancer
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…
- CME
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…
Correspondence
BRAF Inhibition in Refractory Hairy-Cell Leukemia
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…
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Original Article
Somatic STAT3 Mutations in Large Granular Lymphocytic Leukemia
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…
Clinical Implications of Basic Research
Stem Cells and Spinal Cord Repair
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…
Clinical Implications of Basic Research
The Monocyte in Atherosclerosis — Should I Stay or Should I Go Now?
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.…
Original Article
Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
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,…
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…
Review Article
Medical Progress: Alopecia Areata
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…
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Correspondence
Pulmonary Fibrosis, Bone Marrow Failure, and Telomerase Mutation
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…
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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
Outcomes after Induction Failure in Childhood Acute Lymphoblastic Leukemia
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…
Editorial
Attacking Remaining Challenges in Childhood Leukemia
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…
Clinical Implications of Basic Research
Metabolic Health and Nuclear-Receptor Sensitivity
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…
Review Article
Mechanisms of Disease: Diabetic Retinopathy
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…
- CME
Original Article
HLA Class II Locus and Susceptibility to Podoconiosis
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…
Original Article
Clonal Architecture of Secondary Acute Myeloid Leukemia
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.…









