Publications by authors named "M Robledo"

Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.

Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.

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Article Synopsis
  • The study explores the genetic characteristics of urinary bladder paragangliomas (UBPGLs) in a cohort of 70 Chinese patients, aiming to better understand their heritability and genetic variations.
  • Results show that 38 patients had pathogenic variants (PVs), mainly in cluster 1A genes like SDHB and HRAS, with UBPGLs showing higher PV rates in cluster 1A compared to non-head and neck PGLs.
  • The findings indicate a diverse genetic profile among Chinese patients with UBPGLs, emphasizing the necessity for genetic testing to identify significant pathogenic variants.
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Background: Recent studies have suggested an association between H. pylori and metabolic-disfunction associated fatty liver disease (MASLD). However, epidemiologic studies have yielded inconsistent results.

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Objective: Head-neck paragangliomas (HNPGLs) are rare tumors with approximately half arising due to germline pathogenic variants (PVs) in succinate dehydrogenase genes (SDHx). Patients with HNPGL have heterogeneous propensity to recur and metastasize. Thus, we aim to assess prevalence and predictors of recurrent (RD) and/or metastatic disease in patients with and without SDHx-related HNPGLs.

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Pheochromocytomas and paragangliomas are rare neuroendocrine tumours. Around 20-25 % of patients develop metastases, for which there is an urgent need of prognostic markers and therapeutic stratification strategies. The presence of a MAML3-fusion is associated with increased metastatic risk, but neither the processes underlying disease progression, nor targetable vulnerabilities have been addressed.

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