Publications by authors named "D W Trost"
Introduction: Despite targeted standard therapy, aneurysmal subarachnoid hemorrhage (aSAH) frequently leads to cerebral vasospasms (CVS) of large cerebral arteries, reduced oxygen supply of brain tissue, known as delayed cerebral ischemia (DCI), subsequent development of manifest cerebral infarction and poor neurological outcome.
Research Question: The primary aim was to evaluate the efficacy of endovascular spasmolysis (eSL) as a rescue therapy for delayed ischemic neurological deficits (DIND) occurring despite maximum conservative treatment, with the potential benefit of preventing permanent ischemic deficits, and thus, improving overall neurological outcomes.
Material And Methods: In our retrospective, monocentric study, we included 310 patients developing CVS during hospitalization and evaluated their clinical and radiographic outcomes.
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.
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- Shwachman-Diamond Syndrome (SDS) is a rare genetic condition primarily caused by mutations in the SBDS gene, leading to issues with ribosomal maturation.
- Key symptoms include growth delays, bone marrow failure, pancreatic insufficiency, and skeletal abnormalities, often noticeable after birth.
- This report describes the first fetal case of SDS that highlighted features resembling growth restriction and skeletal dysplasia, ultimately confirmed through advanced genetic testing and fetal autopsy.
Article Synopsis
- - The report discusses a patient with complete insensitivity to pain, experiencing painless fractures and joint hypermobility, linked to a family history of similar conditions among maternal relatives.
- - Genetic testing initially yielded normal results, but optical genome mapping revealed a homozygous deletion in a specific gene that causes impaired pain sensation, indicating recessive disease inheritance.
- - The study highlights the effectiveness of optical genome mapping as a diagnostic tool for identifying structural variants in cases where standard testing fails, making it a more accessible option than traditional whole-genome sequencing methods.
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis.
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