Results 11 to 20 of about 390,500 (268)
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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International Journal of Emergency Medicine, 2021 AbstractA 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h. On examination, there was significant water-bag edema of the upper lip extending to the philtrum and premaxilla. Nasopharyngeal laryngoscopy revealed a patent airway without edema.
Helen Lesser, Jason E. Cohn
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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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Continuum, 2008 Hereditary myelopathies are a diverse group of disorders in which major aspects of the clinical syndrome involve spinal cord structures. Hereditary myelopathic syndromes can be recognized as four clinical paradigms: (1) spinocerebellar ataxia, (2) motor neuron disorder, (3) leukodystrophy, and (4) distal motor-sensory axonopathy.
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Hematology, 2005 Hereditary hemochromatosis (HH) is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease.
Massimo, Franchini, Dino, Veneri
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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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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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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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