Markus Uhl
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View article: Diagnostic clues and pitfalls in pontocerebellar hypoplasia type 2A
Diagnostic clues and pitfalls in pontocerebellar hypoplasia type 2A Open
Introduction Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but initially unspecific sym…
View article: Brain morphometry and psychomotor development in children with PCH2A
Brain morphometry and psychomotor development in children with PCH2A Open
Introduction Pontocerebellar hypoplasia type 2A (PCH2A) is a rare neurogenetic disease causing severe cognitive and motor impairment. We report on brain morphometry and psychomotor development of affected children. Materials and Methods We…
View article: Bone marrow disease in rhabdomyosarcoma visualized by 2-[18F]fluorodeoxyglucose positron emission tomography/computed tomography
Bone marrow disease in rhabdomyosarcoma visualized by 2-[18F]fluorodeoxyglucose positron emission tomography/computed tomography Open
Bone marrow metastases—noted in 6% of patients with rhabdomyosarcoma—have been linked to very poor outcomes. Bilateral bone marrow sampling from iliac crests has been the gold standard for bone marrow examination in rhabdomyosarcoma, but s…
View article: Impact of Transplantation Timing on Renal Graft Survival Outcomes and Perioperative Complications
Impact of Transplantation Timing on Renal Graft Survival Outcomes and Perioperative Complications Open
Nighttime organ transplantation aims to decrease cold ischemia duration, yet conflicting data exists on its impact on graft function and perioperative complications. This multicenter TRANSPLANT’AFUF study including 2,854 patients, transpla…
Laboratory Findings, Medical Imaging, and Clinical Outcome in Children with Cerebral Sinus Venous Thrombosis Open
Introduction Cerebral sinus venous thrombosis (CSVT) is a rare disease, especially in children. Therefore, thrombophilia markers, risk factors, treatment strategy, and MRI, as well as clinical outcome need further investigation to support …
Successful Secondary Endovascular Intervention in Pediatric Patients with Venous Thromboembolic Events Open
Background In the past, pediatric patients with venous thromboembolic events (VTE) were treated with low-molecular-weight heparin (LMWH) which was successful in around 70% of the cases. However, anticoagulation alone might not restore pate…
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report Open
Background Osteosarcoma is a highly malignant tumour associated with numerous and complex genetic alterations like copy number alterations. Recent whole genome studies revealed distinct mutations in several candidate oncogenes. While clini…
Clinicopathologic characteristics, metastasis-free survival, and skeletal-related events in 628 patients with skeletal metastases in a tertiary orthopedic and trauma center Open
Background Skeletal-related events (SREs) due to bone metastases (BM) significantly impact the morbidity and mortality of cancer patients. The present study sought to investigate clinicopathological characteristics, metastasis-free surviva…
Additional file 2 of Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report Open
Additional file 2. Detailed list of potentially relevant genes affected by different CNA profile. List of potentially affected genes due to CNA and potentially affected genes due to differences to previously reported CNA. Validated (candid…
TIM‐3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis‐like T‐cell lymphoma and hemophagocytic lymphohistiocytosis Open
This report offers novel clinical and diagnostic aspects of the association between germline mutations in HAVCR2 and subcutaneous panniculitis‐like T‐cell lymphoma (SPTCL). The patient presented with panniculitis‐like T‐cell lymphoma invol…
View article: Long-Term Clinical and MRI Results of Matrix-Assisted Autologous Chondrocyte Implantation for Articular Cartilage Defects of the Knee
Long-Term Clinical and MRI Results of Matrix-Assisted Autologous Chondrocyte Implantation for Articular Cartilage Defects of the Knee Open
Objective To evaluate the long-term clinical and radiological outcome of matrix-assisted autologous chondrocyte implantation (mACI) for articular cartilage defects in the knee joint. Design Clinical evaluation was assessed in 21 patients w…