Publications by authors named "M K Shear"

Article Synopsis
  • Prenatal exome sequencing (ES) successfully identified both fetal and maternal genetic diagnoses, revealing a shared pathogenic gamma globin variant in a fetus with unexplained anemia and a mother with sickle cell disease (SCD).
  • The identified variant, HbF Mission Bay HBG2, is linked to various blood-related conditions, including cyanosis and hemolytic anemia, which generally emerge in infancy but can persist into adulthood.
  • In this case, the mother's own symptoms from the variant, such as recurrent hypoxia and methemoglobinemia during pregnancy, occurred alongside the fetus's need for multiple blood transfusions and post-birth methemoglobinemia.
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Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a fetal genetic disease, deep phenotyping is increasingly important to generate a differential diagnosis, choose the most appropriate genetic tests, and inform the results of those tests. The Human Phenotype Ontology (HPO) organizes and defines the features of human disease to support deep phenotyping, and ongoing efforts are being made to improve the scope of the HPO to comprehensively include fetal phenotypes.

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Unlabelled: Although evidence-based treatments for Prolonged Grief Disorder (PGD) exist, pretreatment characteristics associated with differential improvement trajectories have not been identified. To identify clinical factors relevant to optimizing PGD treatment outcomes, we used unsupervised and supervised machine learning to study treatment effects from a double-blinded, placebo-controlled, randomized clinical trial. Participants were randomized into four treatment groups for 20 weeks: citalopram with grief-informed clinical management, citalopram with prolonged grief disorder therapy (PGDT), pill placebo with PGDT, or pill placebo with clinical management.

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Background: Prolonged grief disorder (PGD) is a new diagnosis that is often mistaken for other psychopathologies. We report a case of PGD in a patient who screened positive for personality disorder. Both PGD and personality disorder symptoms were much improved after a course of prolonged grief disorder therapy.

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