A5049588035- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Surgical site infection prevention
- HIV, Drug Use, Sexual Risk
- HIV/AIDS Research and Interventions
- PARP inhibition in cancer therapy
- Urinary Tract Infections Management
- Infection Control in Healthcare
- Machine Learning in Healthcare
- Pelvic floor disorders treatments
- Blood disorders and treatments
- Sex work and related issues
- Health Systems, Economic Evaluations, Quality of Life
- Connective tissue disorders research
- Syphilis Diagnosis and Treatment
- Pleural and Pulmonary Diseases
- Antibiotic Resistance in Bacteria
- Cancer Genomics and Diagnostics
- Antibiotic Use and Resistance
- HIV Research and Treatment
- Lung Cancer Diagnosis and Treatment
Swiss Academy of Medical Sciences
2024
University Hospital of Basel
2017-2023
University of Basel
2017-2023
Rafael Advanced Defense Systems (Israel)
2022
Analytical Services
2022
Charles University
2021
General University Hospital in Prague
2021
Kantonsspital Aarau
2008-2018
Engineering Associates (United States)
2018
Medical Genetics Center
2017
Abstract Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2 , which encodes site-2 metalloprotease (S2P). missense mutations two independent kindreds with moderate/severe cause substitutions at highly conserved S2P residues. Mutant has normal stability, but impaired functioning regulated intramembrane proteolysis (RIP) OASIS, ATF6 and SREBP transcription factors, consistent decreased proband secretion...
Whole exome sequencing (WES) is increasingly used in research and diagnostics. WES users expect coverage of the entire coding region known genes as well sufficient read depth for covered regions. It is, however, unknown which recent platform most suitable to meet these expectations. We present insights into performance standard enrichment platforms from Agilent, NimbleGen Illumina applied six different DNA samples by two vendors per platform. Our results suggest that both Agilent overall...
Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well‐characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family‐based whole‐exome in order to identify causal variants a recurrent pattern of an undescribed lethal congenital anomaly syndrome. The clinical signs included intrauterine growth restriction ( IUGR ), severe microcephaly, renal cystic dysplasia/agenesis and complex brain...
<h3>Objectives and Backgrounds</h3> The current focus on development of specialist centres in the UK to improve outcomes is based evidence from overseas care models. While a neurosurgical centre will for head injured patients, does transferring them directly have any clinical benefit compared with delivery local hospital initial stabilisation subsequent transfer centre? We performed systematic review identify effectiveness bypassing moderate or severely patients. <h3>Methods</h3> Relevant...
<ns4:p><ns4:bold>Background</ns4:bold>: Never before have clinical trials drawn as much public attention those testing interventions for COVID-19. We aimed to describe the worldwide COVID-19 research response and its evolution over first 100 days of pandemic.</ns4:p><ns4:p><ns4:bold>Methods:</ns4:bold>Descriptive analysis planned, ongoing or completed by April 9, 2020 any intervention treat prevent COVID-19, systematically identified in trial registries, preprint servers, literature...
<ns4:p><ns4:bold>Background</ns4:bold>: Never before have clinical trials drawn as much public attention those testing interventions for COVID-19. We aimed to describe the worldwide COVID-19 research response and its evolution over first 100 days of pandemic.</ns4:p><ns4:p><ns4:bold>Methods:</ns4:bold>Descriptive analysis planned, ongoing or completed by April 9, 2020 any intervention treat prevent COVID-19, systematically identified in trial registries, preprint servers, literature...
Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up 10% non-syndromic forms. We present a family with two affected boys compatible X-linked inheritance phenotype severe neurodevelopmental disorder co-segregating deletion Xp22.11 exclusively containing PTCHD1 gene. Although exact function this gene is unknown date, structural overlap its encoded patched domain-containing protein 1, transmembrane...
Abstract Bloodstream infection (BSI) remains a serious complication in patients with hematologic malignancies and neutropenia. The risk factors for mortality after BSI the contributions of pathogens to remain incompletely understood. We evaluated first among adult neutropenic undergoing high‐dose chemotherapy setting (a) an early disease stage autologous (auto‐HSCT) or allogeneic (allo‐HSCT) hematopoietic stem cell transplantation (b) acute leukemia. Risk intensive care admission all‐cause...
We prospectively evaluated direct costs of contact precautions using on-site observation. Additional mean per patient day were calculated for extra materials used, increased workload, and one-off isolation activities. The cost was $158.90 (95% confidence interval, $124.90‒$192.80) day. Infect Control Hosp Epidemiol 2018;39:101–103
The laboratory-based model for end-stage liver disease (MELD) score reflects the function of kidney, liver, and extrinsic coagulation pathway might be used as a general prognostic tool assessment patients. We therefore aimed to investigate potential association MELD with mortality, length hospital stay (LOS), burden in patient population. performed retrospective observational study at tertiary referral center. From January 2012 through December 2013, all consecutive inpatients aged 18 years...
The influence of warfarin pharmacogenomics on major bleeding risk has been little studied in long-term users and non–specialist care settings. We conducted a case–control study to evaluate associations between CYP2C9*2/*3, VKORC1(1173), CYP4F2*3 variants among patients treated with community setting. calculated odds ratios, adjusting for race, duration use, age, gender, body mass index. In 265 cases 305 controls 3.4 3.7 mean years respectively, was associated decreased (odds ratio: 0.62; 95%...
Abstract Background Preliminary studies that analyzed surrogate markers have suggested operating room (OR) door openings may be a risk factor for surgical site infection (SSI). We therefore aimed to estimate the effect of OR on SSI in patients undergoing cardiac surgery. Methods This prospective, observational study involved consecutive surgery 2 prespecified ORs equipped with automatic door-counting devices from June 2016 October 2017. Occurrence an within 30 days after was our primary...
The contribution of community and hospital sources to the transmission extended-spectrum β-lactamase producing Enterobacterales (ESBL-PE) remains elusive.To investigate extent dissemination hospitals spread ESBL-PE by exploring their spatiotemporal distribution in municipal wastewater central European city Basel.Wastewater samples were collected monthly for two consecutive years throughout Basel, Switzerland, including 21 sites across 10 postcode areas collecting either (urban sites, n = 17)...
Split-hand/foot malformation (SHFM) is a limb affecting the central rays of hands and/or feet. Isolated SHFM occurs within families but more often sporadically. Since most with than one patient show dominant inheritance reduced penetrance, sporadic generally considered to be due dominantly inherited new mutations. Recently, recessive was proposed in highly consanguineous family homozygous missense mutation WNT10B. Nevertheless, assumption second locus necessary explain observed phenotypes...
Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than as the majority of samples are formalin-fixed paraffin embedded (FFPE), tumor genome complex, and allelic fraction can be low. We collaborated 10 laboratories in tumors to compare different approaches identify clinically important within FFPE DNA samples. This was not a proficiency study but an...
Interstitial deletions of 1q4 are rare and present with different deletion breakpoints variable phenotype. We report on the clinical molecular cytogenetic findings in a girl minor anomalies, midline defects including prenatally ascertained agenesis corpus callosum, epilepsy developmental delay. A de novo 5.45 Mb almost exclusively located within 1q42 was found to cause this phenotype, which shows significant overlap microdeletion 1q41q42 syndrome reported few patients except for callosum....
Clinical presentation of hypopituitarism in the neonate may be variable, ranging from absent to severe nonspecific symptoms and life-threatening patients with adrenocorticotropic hormone deficiency. The LIM homeobox gene 4 (LHX4) transcription factor regulates early embryonic development anterior pituitary gland. Autosomal dominant mutations LHX4 cause congenital variable combined deficiency (CPHD). We report on a unexplained heart failure minor physical anomalies, suggesting midline defect....
Syphilis is re-emerging globally in general and HIV-infected populations, repeated syphilis episodes may play a central role transmission among core groups. Besides sexual behavioral factors, little known about determinants of individuals-including the potential impact preceding on subsequent risk.In prospective Swiss HIV cohort study, with routine testing since 2004, we analyzed men who have sex (MSM). Our primary outcome was first episodes. We used univariable multivariable Andersen-Gill...
Objective This study trained and evaluated algorithms to detect, segment, classify simple complex pleural effusions on computed tomography (CT) scans. Materials Methods For detection segmentation, we randomly selected 160 chest CT scans out of all consecutive patients (January 2016–January 2021, n = 2659) with reported effusion. Effusions were manually segmented a negative cohort CTs from without was added. A deep convolutional neural network (nnU-Net) cross-validated (n 224; 70%) for...
Cefepime is recommended for treating infections caused by AmpC beta-lactamase-producing Enterobacterales (AmpC-PE), though supporting evidence limited. Therefore, this study compared outcomes associated with cefepime versus carbapenem therapy bloodstream (BSIs) AmpC-PE after phenotypic exclusion of ESBL-co-producing isolates.
BACKGROUND: The X‐linked McLeod neuroacanthocytosis syndrome is a multisystem disorder with hematologic, neuromuscular, and central nervous system (CNS) manifestations. All carriers of the blood group phenotype examined so far had at least subclinical signs systemic involvement. STUDY DESIGN AND METHODS: Evaluation two brothers carrying neurologic examination, immunohematology, RBC membrane protein Western blotting, analysis XK DNA sequence RNA levels, muscle histology including XK/Kell...