Researchers from Baylor College of Medicine presented data from postnatal testing with the aim of providing molecular diagnosis for a patient with prenatally diagnosed heterotaxy syndrome.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
Researchers from the University of Utah applied RNASeq analysis for an undiagnosed case of a critically ill newborn with a complex phenotype, with the aim of providing better diagnosis and improving treatment outcomes.
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
Acid sphingomyelinase deficiency (ASMD) is a progressive lysosomal storage disease caused by autosomal recessive pathogenic variants in the SMPD1 gene encoding acid sphingomyelinase (ASM). In a recent study, researchers from Albert Einstein College of Medicine aimed to assess the levels of plasma lyso-sphingomyelin, a deacylated form of sphingomyelin, in patients with ASMD pre- and post-treatment with olipudase alfa (recombinant-human acid sphingomyelinase).
Shwachman-Diamond syndrome (SDS) is a rare disease of ribosome biogenesis affecting multiple systems, with predominant manifestations being exocrine pancreatic insufficiency, bone marrow failure and leukemia predisposition, among others.
The expression of zinc finger transcription factor Trps1 (TRPS1) has been recently found to be specific for tumors of the breast. In normal skin, the expression of TRPS1 is found in outer root sheath, sebocytes and matrical cells of the hair follicle, as well as the inner luminal cells of eccrine glands. Cutaneous tumors with origin in these cell types were hypothesized to express TRPS1. Because little knowledge exists about the expression of TRPS1 in nonmelanocytic tumors of the skin; researchers from The University of Texas MD Anderson Cancer Center performed immunohistochemical (IHC) analysis of TRPS1 in different types of cutaneous tumors.
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