Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome

Mutations in TERC, the RNA component of telomerase, result in autosomal dominant dyskeratosis congenita (DC), a rare bone marrow failure syndrome. TERC mutations have been detected in a subset of patients previously diagnosed with aplastic anemia and myelodysplastic syndrome (MDS), and these TERC mutations are clinically relevant as patients with DC respond poorly to conventional therapies. We aimed to determine the frequency of TERC mutations in pediatric patients with aplastic anemia and MDS who required a hematopoietic stem cell transplant. We obtained 284 blood samples from the National Donor Marrow Program Research Sample Repository from children and adolescents with bone marrow failure who underwent an unrelated stem cell transplant. We screened these samples for mutations in the TERC gene using direct DNA sequencing. We found 2 patients with sequence alterations in TERC. We identified a 2 base pair deletion (-240delCT) in a 4-year-old child with MDS and a single nucleotide alteration (-99-->CG) in a 1-year-old child with juvenile myelomonocytic leukemia. Screening for TERC gene mutations is unlikely to diagnose occult DC in children with severe bone marrow failure who require a hematopoietic stem cell transplant.     

Blood withdrawal and infusion via umbilical catheters: effect on cerebral perfusion and influence of ibuprofen

Withdrawal and infusion of blood via umbilical catheters can affect cerebral blood flow in preterm infants. We compared the effects on cerebral perfusion of 3 ml/kg blood withdrawal and infusion via umbilical arterial (UAC) and venous (UVC) catheters in 16 infants < or =32 weeks gestation, age <24 h, on mechanical ventilation. Near infrared spectroscopy was used to monitor changes in cerebral oxy- and deoxyhemoglobin, total cerebral hemoglobin (an index of cerebral blood volume; CBV) and HbD (an index of cerebral intravascular oxygenation). In 10 infants the study was repeated 1 h after intravenous administration of 10 mg/kg ibuprofen as prophylaxis against PDA. Withdrawal and infusion via the UVC caused significant MABP and concordant HbD and CBV changes. Smaller modifications were seen following blood withdrawal and infusion via the UAC. Ibuprofen attenuated cerebral hemodynamic changes associated with withdrawal, but not infusion, from UAC and UVC.     

The contribution of birth defects to spontaneous preterm birth

The purpose of this study was to determine if and which birth defects (BDs) are risk factors for spontaneous preterm delivery, and to quantify that risk. A case-control study of spontaneously delivered term (n = 21,093) and preterm (n = 2937; 12.2%) liveborn neonates, between 1996 and 2000, at Ramón Sardá Maternity Hospital of Buenos Aires, was performed. Selected risk factors were compared between term and preterm neonates, and risks of preterm birth in the presence of BDs were evaluated, using stratified and logistic regression analyses. Preterm versus term neonates showed higher rates of most of the selected maternal and neonatal risk factors. The prevalence of BDs among preterm and term neonates was 4.1 and 2.0%, respectively (p < 0.001). Newborns with BDs showed a higher adjusted risk for preterm birth than those without BDs (odds ratio, 2.16; 95% confidence interval, 1.92 to 2.40), with the highest risks for skeletal dysplasias, abdominal wall defects, chromosome, multiple, and minor anomalies. That neonates with BDs are at risk for spontaneous preterm birth, regardless of other factors, should lead to a readjustment of health policies aimed at the reduction of preterm delivery.     

Adjuvant radiation therapy is associated with improved overall survival in high-intermediate risk stage I endometrial cancer: A national cancer data base analysis

Purpose

Adjuvant radiation therapy (RT) was shown to improve local control in patients with high-intermediate risk (HIR) stage I endometrial cancer (EC) in randomized trials. Overall survival (OS) was not significantly different with adjuvant RT in these trials or subsequent meta-analyses; however, they were underpowered to assess OS. We used the National Cancer Data Base (NCDB) to examine the impact of adjuvant RT on OS in HIR EC patients.

Nurse-led medication reviews and the quality of drug treatment of elderly hospitalized patients

Purpose  

To evaluate if nurses after receiving training in clinical pharmacology can improve the quality of the drug therapy in elderly hospitalized patients.     

Surgical prevention of cancer.

There have been many recent advances in cancer prevention, including improved understanding of cancer biology, better characterization of premalignant disease, significant advances in cancer surveillance, and identification of effective chemoprevention regimens. Despite this, surgery remains the best option for many individuals at high risk of cancer. Like all prevention modalities, surgical prevention involves balancing the factors governing cancer risk with the benefits and risks of treatment. The issues governing decision making for surgical prevention vary widely among different cancer types, and include consideration of the age and level of cancer risk of the individual, the effectiveness of cancer surveillance for the particular organ at risk, the aggressiveness of the cancer once present, and the morbidity of surgery. This article briefly reviews the use of surgery to prevent some of the most common epithelial malignancies, as well as some of the genetic cancer syndromes for which surgery plays an important role in improving survival.