Publications by authors named "B Gess"

Endovascular thrombectomy (EVT) is the most effective treatment for acute ischemic stroke caused by large vessel occlusion (LVO). Yet, long-term outcome (LTO) and health-related quality of life (HRQoL) in these patients have rarely been addressed, as opposed to modified Rankin scale (mRS) recordings. We analysed demographic data, treatment and neuroimaging parameters in 694 consecutive stroke patients in a maximum care hospital.

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  • Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are rare disorders affecting sensory and autonomic neurons, making them hard to study due to limited data.
  • A large international study identified 80 new pathogenic variants in 73 families across known CIP/HSAN-related genes, expanding knowledge on these diseases.
  • Advanced methodologies like in silico predictions and metabolic tests improved variant classification, crucial for guiding future gene-specific treatments in clinical trials.
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  • Advances in the molecular characterization of endometrial endometrioid adenocarcinomas have improved prognostic stratification but identifying risks in microsatellite instability (MSI) and copy-number (CN)-low cases remains difficult.
  • The study analyzed histomorphologic parameters in resection specimens from 228 tumors to discover potential biomarkers for better prognosis assessment.
  • Key findings included tumor budding (TB) being a significant independent factor for MSI tumors, while WHO grading was crucial for CN-low tumors, suggesting both should be used for improved management of these cancer cases.
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Cisplatin (CDDP) is an efficient chemotherapeutic agent broadly used to treat solid cancers. Chemotherapy with CDDP can cause significant unwanted side effects such as renal toxicity and peripheral neurotoxicity. CDDP is a substrate of organic cation transporters (OCT), transporters that are highly expressed in renal tissue.

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Myopathies fall under the umbrella of rare diseases, however, muscle pain is a relevant, under-recognized symptom with limited treatment options. Carbamazepine is an oral sodium channel blocker approved for the treatment of seizures and neuropathic pain. In 54 individuals receiving carbamazepine for muscle pain, we retrospectively assessed the subjective treatment response, side effects, and reasons for carbamazepine discontinuation.

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