Publications by authors named "Trost D"
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.
Article Synopsis
- The article discusses two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare genetic disorder characterized by bone bowing and jaw lesions.
- Genetic tests confirmed the diagnosis by identifying new variants in the ANO5 gene.
- The review emphasizes the importance of recognizing GDD for better diagnosis and management of the condition in healthcare settings.
Article Synopsis
- The translation elongation factor eEF1A2 is crucial for binding aminoacyl-tRNA to the ribosome, and since 2012, 21 harmful variants have been linked to severe neurodevelopmental disorders, including epilepsy and intellectual disabilities.
- A recent study gathered 26 patients with EEF1A2 variants, revealing a milder clinical profile than previously reported, with higher walking and language skills and lower rates of intellectual disability and epilepsy.
- The research identified 8 new EEF1A2 variants and suggests that severe and moderate phenotypes are linked to specific protein regions affecting GTP exchange, while milder variants may affect secondary functions, contributing to a broader understanding
Article Synopsis
- Pathogenic variants in the POLE and POLD1 genes are linked to an inherited condition, polymerase proofreading-associated polyposis, which increases the risk of colorectal cancer and other tumors, including gliomas.
- Whole-exome sequencing of glioma patients revealed that 16% carried rare deleterious POLE/POLD1 variants, with significant features indicating defective DNA proofreading and a correlation with tumor characteristics.
- Glioblastoma patients with these variants had a notably shorter average overall survival of 21 months, and these genetic variants might also make glioma patients more responsive to immunotherapy and warrant ongoing surveillance for other cancer risks.
Background: Vasospasm of the large cerebral arteries (CVS) after aneurysmatic subarachnoid hemorrhage (aSAH) reduces cerebral perfusion and causes delayed cerebral ischemia. Although endovascular spasmolysis shows convincing angiographic results, patients often do not improve in outcome. Delayed recognition of CVS contributes substantially to this effect.
View Article and Find Full Text PDFIntroduction: Hydrocephalus after aneurysmal subarachnoid haemorrhage (aSAH) is a common complication which may lead to insertion of a ventriculoperitoneal shunt (VPS). Our aim is to evaluate a possible influence of specific clinical and biochemical factors on VPS dependency with special emphasis on hyperglycaemia on admission.
Patients And Methods: Retrospective analysis of a monocentric database of aSAH patients.
Timely treatment of aneurysmal subarachnoid haemorrhage (aSAH) is key to prevent further rupture and poor outcome. We evaluated complications and outcome adjusting for time from haemorrhage to treatment. Retrospective analysis of aSAH patients admitted between 2006 and 2020.
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- * Analyzed exome sequencing data from over 3,200 individuals with developmental/neurological issues using the MELT tool to identify MEIs, resulting in two significant findings linked to specific conditions.
- * The study suggests that integrating MEI detection into exome sequencing could enhance diagnosis rates for genetic disorders, indicating its potential as a standalone diagnostic tool.
Article Synopsis
- A vanishing twin (VT) occurs in about 30% of twin pregnancies and is linked to a higher risk of fetal genetic abnormalities (aneuploidy).
- A study analyzed data from 847 VT patients who underwent noninvasive prenatal testing (NIPT) for common fetal trisomies, alongside comparison groups of singleton and viable multiple pregnancies.
- Results showed that while NIPT was effective in screening for trisomy 21 (with a 50% confirmation rate), caution is advised for interpreting results for trisomies 18 and 13, suggesting ultrasound monitoring instead of invasive tests.
Article Synopsis
- A supernumerary marker chromosome (SMC) is an uncommon, structurally abnormal chromosome that can't be easily identified using typical cytogenetic techniques, impacting about 0.075% of prenatal cases.
- Case study involved a 39-year-old pregnant woman with a normal ultrasound but high-risk factors for chromosomal abnormalities, leading to further testing.
- Noninvasive prenatal testing (NIPT) combined with chorionic villus sampling successfully identified a duplication on chromosome 20, allowing for quicker and more efficient analysis without extensive FISH studies.
Background: Aneurysm treatment during cerebral vasospasm (CVS) phase is frequently considered as particularly dangerous, mainly because of the risk of cerebral infarct.
Objective: We aimed to evaluate the risk of aneurysmal subarachnoid haemorrhage (aSAH)-specific complications and functional outcome in patients treated during CVS phase.
Methods: We retrospectively analysed a large, retro- and prospectively collected database of aSAH patients admitted to our department between March 2006 and March 2020.
Article Synopsis
- The study addresses the challenge of manually reinterpreting sequenced genomic data due to human resource limitations and inconsistent procedures, highlighting the need for more efficient methods.* -
- The Genome Alert! method automates the reporting of clinically significant changes in variant classifications from the ClinVar database, revealing a significant number of changes and new gene-disease associations over a two-year period.* -
- The use of Genome Alert! resulted in a high validation rate of classification changes, leading to new diagnoses for several patients and the identification of valuable gene-disease associations not previously documented in existing databases.*
Liquid egg products are one of the basic raw materials for the food industry. Knowledge of their rheological and flow behaviour in real technical elements is absolutely necessary for the selection of suitable technological equipment for their processing. In this article, the rheological properties of liquid egg products were determined.
View Article and Find Full Text PDFThis retrospective analysis reviews five patients with transjugular intrahepatic portosystemic shunt (TIPS) who underwent percutaneous microwave ablation of hepatocellular carcinoma between January 2017 and September 2020. Mean tumor diameter was 2.0 cm (range 1.
View Article and Find Full Text PDFObjective: The study objective was to evaluate the safety and efficacy of transcatheter arterial "embolization" (TAE) in the treatment of chronic "musculoskeletal pain" refractory to standard therapy.
Methods: PubMed, EMBASE, and Cochrane Central Register of Controlled Trials were searched for original research articles evaluating TAE in patients with musculoskeletal conditions from database inception to January 21, 2020. Search terms employed were as follows: "embolization", "pain", "knee osteoarthritis", joint replacement, epicondylitis, tenderness, inflammation, WOMAC (Western Ontario and McMaster Universities Osteoarthritis Index), microspheres, Embozene, geniculate artery, neovascularity, transcatheter, embolic, imipenem/cilastatin sodium, angiogenesis, and "musculoskeletal".
Heather honey is a valuable and rheologically special type of honey. Its above-average selling price may motivate its intentional violation with a mixture of honey from another botanical origin, the price of which is lower on the market. This work deals with the rheological properties of such devalued heather honey in order to determine the changes in the individual rheological parameters depending on the degree of dilution of the heather honey.
View Article and Find Full Text PDFPurpose: To investigate the safety and efficacy of genicular artery embolization for treatment of refractory hemarthrosis following total knee arthroplasty.
Material And Methods: Patients who underwent genicular artery embolization with spherical embolics between January 2010 and March 2020 at a single institution were included if they had undergone total knee arthroplasty and subsequently experienced recurrent hemarthrosis. Technical success was defined as the significant reduction or elimination of the hyperemic blush.
Article Synopsis
- * Researchers identified four unrelated patients with isolated ID who carried likely pathogenic KCNQ2 variants, typically linked to neonatal seizures and early-onset epilepsy, indicating potential relevance to ID.
- * The study noted considerable variability in the clinical presentation of ID associated with KCNQ2 variants, suggesting that multiple genetic factors or environmental influences may contribute to this diversity, calling for further research on genes linked to encephalopathy in non-epileptic ID cases.
Despite inferior vena cava (IVC) filter practice spanning over 50 years, interventionalists face many controversies in proper utilization and management. This article reviews recent literature and offers opinions on filter practices. IVC filtration is most likely to benefit patients at high risk of iatrogenic pulmonary embolus during endovenous intervention.
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- Atypical fetal chromosomal anomalies (ACAs) are more common than thought and can impact fetal development, hence a new screening strategy for non-invasive prenatal testing (NIPT) was developed.
- The screening was tested on two cohorts: Cohort A with 192 plasma samples (42 with ACAs) evaluated the test's performance, showing an 88.1% sensitivity and 99.3% specificity.
- In Cohort B, involving 3,097 pregnant women, there was a 1.2% positive result rate for anomalies, indicating that this genome-wide NIPT can effectively screen for ACAs while requiring minimal additional invasive tests, especially for at-risk women.
Article Synopsis
- Heterozygous deletions on chromosome 15q13.3 can cause a range of symptoms, including intellectual disability and epilepsy, while homozygous deletions lead to more severe conditions like epileptic encephalopathy and poor growth.
- Previous research focused on the CHRNA7 gene, but new studies suggest that the OTUD7A gene is critical for brain function and associated disorders.
- A patient with severe developmental delays was found to have a damaging mutation in the OTUD7A gene, and tests showed significant dysfunction in the proteasome complex, linking these gene variations to early-onset epileptic encephalopathy.