Publications by authors named "A F Lewanda"
We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a intronic variant in (NM_000988.3:c.
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- The study focuses on a protein called SPOUT1/CENP-32, which is crucial for proper chromosome alignment during cell division.
- When this protein is depleted, it causes problems like centrosome detachment and chromosome misalignment, leading to significant developmental issues.
- The research also links genetic variants in humans to neurodevelopmental delays and identifies a disorder called SpADMiSS, characterized by symptoms like developmental delays, microcephaly, seizures, and short stature due to defects in cell division.
Background: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community.
View Article and Find Full Text PDFProper embryonic and postnatal skeletal development require coordination of myriad complex molecular mechanisms. Disruption of these processes, through genetic mutation, contributes to variation in skeletal development. We developed a high-throughput N-ethyl-N-nitrosourea (ENU)-induced saturation mutagenesis skeletal screening approach in mice to identify genes required for proper skeletal development.
View Article and Find Full Text PDFObjective: To determine the frequency of dietary supplement use for children with Down syndrome, and to obtain additional descriptive data regarding the age of initial treatment, cost, perceived benefits, and disclosure of use to the pediatrician.
Study Design: An anonymous questionnaire in English and Spanish was created for parents of children under age 18 years with Down syndrome. Surveys were completed in our clinic, or accessed on a number of Down syndrome-related websites.