The Week That Wasn't: Cold Cure, Sickle Cell, Polluted Placenta The Week That Wasn't: Cold Cure, Sickle Cell, Polluted Placenta
Three medical stories that we didn't cover, explained.Medscape
Discussion Pulmonary embolism (PE) is potentially life-threatening but fortunately rare event especially in the pediatric population. It was first described in children in 1861. PE is likely underreported because of minimal or non-specific clinical symptoms. The incidence is estimated at 0.05-4.2% with the 4.2% based on autopsy reports. It is probably also increasing as more central venous catheters (CVC) are used, and more children are surviving previously poor prognostic diseases. There is a bimodal distribution with cases
Pediatric Allergy, Immunology, and Pulmonology,Volume 32, Issue 3, Page 85-85, September 2019.
Pediatric Allergy, Immunology, and Pulmonology,Volume 32, Issue 3, Page 92-102, September 2019.
It’s only been seven years since scientists first learned how to precisely and reliably splice the human genome using a tool called CRISPR, making it possible to think about snipping out disease-causing mutations and actually cure, once and for all, genetic diseases ranging from sickle cell anemia to certain types of cancer and even blindness. Doctors are plunging ahead in search of ways to use the relatively new technology to start treating patients. In China last November, scientist Jiankui He stunned—and dismayed—the genetic community when he announced he had already used CRISPR, which many believe sti...
Condition: Sickle Cell Disease Intervention: Diagnostic Test: Near infrared spectroscopy Sponsors: Children's Research Institute; National Institute of Allergy and Infectious Diseases (NIAID) Recruiting
The objectives of this study were to identify cases of hypereosinophilia in a tertiary pediatric medical center, determine clinical characteristics and disease associations, and estimate the incidence of hypereosinophilia in the hospital and geographic populations.MethodsA retrospective chart review included patients
Discussion This case demonstrates successful cure of pre-B-ALL complicating XLA by alloSCT with restoration of B-cell development and functional antibody response. We are aware of only one previous case of pre-B-ALL in an XLA patient (21), which suggests that human BTK deficiency in itself does not predispose to pre-B-ALL. However, there are data to suggest that BTK may act as a tumor suppressor, and BTK deficiency may predispose to tumor development following a “second hit.” Mice with a genetic deficiency in Slp65, a gene encoding an adaptor protein that functions together with BTK, have a block in progenito...