A5070355376- Lysosomal Storage Disorders Research
- Connective tissue disorders research
- Neurogenetic and Muscular Disorders Research
- Craniofacial Disorders and Treatments
- Trypanosoma species research and implications
- Bone Tumor Diagnosis and Treatments
- Cleft Lip and Palate Research
- Bone fractures and treatments
- Proteoglycans and glycosaminoglycans research
- Assisted Reproductive Technology and Twin Pregnancy
- Bone Metabolism and Diseases
- Soft tissue tumor case studies
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Ophthalmology and Eye Disorders
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Glaucoma and retinal disorders
- Biochemical and Molecular Research
- Vascular Malformations and Hemangiomas
- Bladder and Urothelial Cancer Treatments
- Medical Imaging and Pathology Studies
- RNA modifications and cancer
- Oral and Maxillofacial Pathology
Medical University of Vienna
2016-2025
Jordan University of Science and Technology
2024
Indianapolis Zoo
2020
Kentucky Science Center
2020
Triangle
2020
Genetikum
2018
Open Text (Canada)
2016
Praxis
2016
Baum Consult
2012
University of Vienna
1994-2005
Background Mucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to known MPS subtypes (I–IX). Arylsulfatase K (ARSK) is a recently characterised hydrolase involved GAG removes 2-O-sulfate group from 2-sulfoglucuronate. Knockout Arsk mice was consistent with mild storage pathology, but no human phenotype has yet described. Methods In this study, we...
Abstract Proteoglycans ( PG s) are major constituents of the extracellular matrix and have recently been proposed to contribute synaptic plasticity. Hippocampal s not yet studied or linked memory. The aim study, therefore, was isolate characterize rat hippocampal determine their possible role in spatial were extracted from hippocampi by anion‐exchange chromatography analyzed nano LC ‐ MS / . Twenty male Sprague–Dawley rats tested morris water maze. agrin, amyloid beta A4 protein, brevican,...
Background: Facial features are the first basic sign of medical knowledge children and adults with congenital malformations. Children born multiple contractures almost always receive misdiagnosis arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via proper interpretations its characteristic facial dislocations. Comprehensive clinical diagnosis facilitate an orthopedic strategy for early treatment enhance recognition unreported craniocervical malformation complexes....
There are several types of metaphyseal chondrodysplasia and various clinical have been differentiated. The Schmid type is the most common. Diffuse flaring, irregularity, growth plate widening, which severe in knees, striking radiological features this disease. dysostosis characterized by failure normal mineralization zone provisional calcification, leading to widened physes enlarged knobby metaphyses, effectively causing shortening tubular bones, splaying coxa vara, bow legs. Orthopaedic...
The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse the disease is, to a certain extent, different from one patient another.In series 11 patients (eight girls three boys, aged 0 - 16 years), variable presentations were landmarks these patients. At birth, all our manifested short great toes in valgus position. Marfan syndrome was suggested diagnosis children 3 8 years two pre-adult Clinical symptoms torticollis,...
Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, neck associated variable degrees of coxa vara. Cervical cord compression the most hazardous skeletal deformity in patients SEDC which requires special attention and management. Ten clinical radiographic phenotypes spondyloepiphyseal have been recognized genotype was compatible single base substitutions, deletions or duplication part COL2A1...
We describe patients who were recognized via conventional radiographs of the skull as manifesting wormian bones. Wormian bones are not a specific diagnostic entity and can be seen in variable forms syndromic disorders.Seven children three adults (of 10-28 years) diagnosed our departments. The principal complaints for pediatric adult group were: ligamentous hyperlaxity, history delayed walking occasional fractures, which later life started to manifest constellation neurological symptoms such...
The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result improvements in diagnosis, multi-disciplinary care, therapies such as enzyme replacement therapy hematopoietic stem cell transplantation, an increasing number patients MPS reaching adulthood involved family...
Autosomal-recessive SLOS is caused by mutations in the DHCR7 gene. It defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis often missed at prenatal ultrasound fetal autopsy METHODS: We performed autopsies gene analyses eight fetuses suspected having measured cholesterol values long-term formalin-fixed tissues an additional museum exhibit RESULTS: Five nine presented classical features...
The recessive PIEZO2-associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, progressive symptoms of scoliosis. Here, we describe the youngest patient DAIPT to date, who, at age 3.5 years, did not show a single clinical sign or contractures, but had history bilateral clubfoot operations. On contrary, he presented some features, described thus far, such as...
Abstract Background Diprosopus is a rare malformation of still unclear aetiology. It describes laterally double faced monocephalic and single-trunk individual has to be distinguished from the variant Janus type diprosopus. Results We examined seven double-faced foetuses, five showing true diprosopus, one each presenting as Janiceps parasitic conjoined twins. Four foetuses presented with (cranio)rachischisis, two had secondary hydrocephaly. Three showed cerebral duplication concordant...
Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital disorder characterized by absence of conjugate horizontal eye movements, and debilitating during childhood adolescence. HGPPS associated mutations the ROBO3 gene. In this study, objective was to identify pathogenic variants in cohort Tunisian patients further define genotype-phenotype correlations. Methods: Thirteen from six unrelated consanguineous families manifested were...
The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one biggest collections specimens from human origin Europe. existence this magnificent collection-representing an important resource for dysmorphology research, mostly awaiting contemporary diagnoses-is not widely known scientific community. Here, we show that harbors a wealth with (exceptionally) rare congenital anomalies. These museums can...
Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders which congenital cervico-thoracic kyphosis was major deformity. Patients concerns: Directing maximal care toward analysis is not only axial malformation but also appendicular abnormalities our main concern. We fully documented diversity spine complex via clinical phenotypes. Diagnoses: established phenotypic/genotypic confirmation diverse entities namely acampomelic...