#NewsfromtheNest: We are thrilled to announce that the @US_FDA has approved our first gene therapy for adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions! Read more in our press release: https://t.co/eZwiJzNlGY [1/2]
New NEJM Image Challenge: An infant delivered at term had a “blueberry muffin” rash at birth. Skin biopsy showed a dense infiltrate of cells with kidney-shaped nuclei and positive S100+ and CD1a+ on immunohistochemistry. What is the most likely diagnosis? https://t.co/kQrNuVmVXg
Happy Genetic Counselor Awareness Day! Today, Mount Sinai celebrates genetic counselors and the work they do in clinics, labs, and research to help people better understand their health. Learn more: https://t.co/AjTLib90IQ #GCAwarenessDay#GCChat
How refreshing it is to see 2 leading genomics experts publish this important commentary. To understand the uniqueness of each person, we need to know well beyond their DNA data. By @markmccarthyoxf and @ewanbirney 🙏
https://t.co/owOCukYp3m @Nature
Researchers have used genetic mapping to find the genes that cause rare inherited disorders, including cystic fibrosis. Scientists are also using it to find the genes that they believe play a role in the development of more common disorders, including heart disease and cancer.
While you can technically extract DNA from any plant, it is incredibly easy to purify DNA from strawberries. In fact, you can do it at home with just a few household items! Follow our instructional video with Dr. Carla Easter and our @NHGRI_Director. https://t.co/8idQiUNGS9
A 68-year-old woman presented to clinic with a 40-year history of worsening hyperkeratotic non-painful, non-pruritic papules and plaques on her hands and feet. Her mother, son, and granddaughter had similar lesions. What is the diagnosis?
A 7-year-old boy with aplastic anemia received treatment with cyclosporine. While receiving cyclosporine, severe gum hypertrophy, a known side effect of this medication, developed.
Los invito a escuchar "Las diferentes Clasificaciones de los Nódulos Tiroideos y sus repercusiones clínicas. Entrevista con un endocrinólogo experto." en Memo/rándum. @camilo_gzzv@Radiologia_HU@FMRIoficial https://t.co/imJhnTv6E7
A 7-year-old girl presented with 2 weeks of fever and painful blisters throughout the body. She completed a course of penicillin for tonsillitis two weeks earlier. Physical examination showed multiple bullae on her extremities and lesions on her lips. What is the diagnosis?
The incidence of melanoma of the skin is 6 times as high as it was 40 years ago; mortality has stayed low. The most likely factors influencing the increase are changing thresholds to biopsy pigmented lesions and to label the morphologic change as melanoma.