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Deficiency of adenosine deaminase (ADA) causes a form of severe combined immunodeficiency disease. This study shows that gene therapy in the form of hematopoietic stem cells transduced with a viral vector containing the human ADA gene can restore immune function in patients with this disease.
This study examined the vital status and lifetime risk of end-stage renal disease in 3698 persons who donated a kidney between 1963 and 2007. The results indicate that survival and the risk of end-stage renal disease among carefully screened kidney donors appear to be similar to those in the general population. Most donors who were studied had a preserved glomerular filtration rate, normal albumin excretion, and an excellent quality of life.
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About 20% of children with acute lymphoblastic leukemia (ALL) that arises from a B-cell progenitor have a relapse after induction chemotherapy. This study investigated genetic abnormalities in high-risk and low-risk ALL. Copy-number variations and mutations of IKZF1 were reproducibly found in high-risk ALL. The evidence suggests that the loss of function of IKZF1 has a role in resistance to chemotherapy in ALL.
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Obesity is a modifiable risk factor for urinary incontinence. This study randomly assigned overweight and obese women with urinary incontinence to an intensive 6-month weight-loss program or to a structured education program. More intervention-group participants had clinically relevant reductions in the frequency of episodes of any incontinence, stress incontinence, and urge incontinence.
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A 23-year-old woman with anorexia nervosa visits her internist to discuss possible admission to an inpatient behavioral-treatment program. Behavioral therapy for anorexia nervosa includes direct supervision of eating, establishment of weight-gain goals, and implementation of contingencies if goals are not achieved. The most important adverse effect of such programs is the risk of the refeeding syndrome, a rare but potentially life-threatening metabolic disorder.
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A 39-year-old woman in the first trimester of her first pregnancy was seen in the obstetrics and gynecology clinic of this hospital at 14 weeks of gestation because of persistent fevers. She had recently traveled to Africa to adopt a child. In the interval between returning home and becoming ill, she became pregnant. On examination, there was a maculopapular rash over the trunk, arms, and legs, as well as a slightly enlarged liver. Sequential ultrasound examinations showed an apparently normal fetus.
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