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Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review [PDF]
Hereditary Cancer in Clinical PracticeBackground Cancer family syndromes can predispose to malignancies of different sites, including brain and spinal tumours. Germline mutations associated with a high risk of cancer can also be found in patients with metastatic tumours of the brain.
Joanna Robaczyńska +10 more
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Hereditary Cancer in Clinical Practice, 2020 Background Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis.
Katarzyna Białkowska +17 more
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Genetic testing for hereditary breast cancer in Poland: 1998–2022
Hereditary Cancer in Clinical Practice, 2023 BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1.
Jacek Gronwald +7 more
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Scientific Data, 2023 While the amount of studies involving single-cell or single-nucleus RNA-sequencing technologies grows exponentially within the biomedical research area, the kidney field requires reference transcriptomic signatures to allocate each cluster its matching ...
Marceau Quatredeniers +5 more
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Glucocorticoids Influencing Wnt/β-Catenin Pathway; Multiple Sites, Heterogeneous Effects
Molecules, 2020 Glucocorticoid hormones are vital; their accurate operation is a necessity at all ages and in all life situations. Glucocorticoids regulate diverse physiological processes and they use many signaling pathways to fulfill their effect.
Katalin Meszaros, Attila Patocs
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Frontiers in Endocrinology, 2021 IntroductionPheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia.
Diana Borges Duarte +12 more
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Frontiers in Neurology, 2017 BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay +8 more
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A patient with recurrent fever – TRAPped for diagnosis!
Current Medical Issues, 2022 Hereditary recurrent fever syndromes are rarely diagnosed in India, and the age at diagnosis is usually childhood or early adulthood. We present an adult male patient with recurrent fever since childhood who presented to us at 59 years of age and was ...
Hari Kishan Boorugu +3 more
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Contribution of different etiology factors in fading pregnancy occurrence
Acta Medica Leopoliensia, 2018 Aim. Evaluate the contribution of non-genetic and genetic factors to the occurrence of fading pregnancy at the terms of less / more than 12 weeks of gestation. Material and Methods.
M. Lozynska +4 more
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Phenotypic Characterization of Idiopathic Epilepsy in Border Collies
Frontiers in Veterinary Science, 2022 The prevalence of idiopathic epilepsy (IE) within the Border Collie (BC) dog breed is high. The aim of this retrospective study was to describe the phenotype of BCs with IE and assess correlations between phenotypic variables and owner-provided quality ...
Koen M. Santifort +6 more
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