Results 11 to 20 of about 791,916 (337)
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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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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Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]
Клиническая практика, 2021 Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov +8 more
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A rare pathogenic variant identified in a heart transplant recipient with hereditary transthyretin amyloidosis: a case report [PDF]
Journal of Yeungnam Medical Science, 2023 Hereditary transthyretin (ATTRv) amyloidosis is a rare and complex genetic disorder that can lead to life-threatening cardiac amyloidosis and rapid disease progression.
Myeong Seop Kim +2 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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Oman Medical Journal, 2021 A 36-year-old male presented with multiple red spots over the tongue that appeared at the age of 10 years. In the past two decades, he had suffered from recurrent spontaneous episodes of profuse bleeding from the nose and tongue lesions, requiring ...
Abheek Sil +2 more
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Serum selenium level and cancer risk: a nested case-control study
Hereditary Cancer in Clinical Practice, 2019 Background Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between selenium and cancer among women who ...
Steven A. Narod +15 more
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Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]
, 2017 PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B +8 more
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Isolated Protein S Deficiency Presenting in Neonatal Inferior Vena Cava as Right Atrial Thrombus: A Case Report [PDF]
Indian Journal of Neonatal Medicine and Research, 2023 Critically ill neonates are at the greatest risk of developing thromboembolic disease. Multiple risk factors have been identified, one of which is isolated Protein S deficiency-a rare cause. The free form of Protein S plays a role in anticoagulation, and
Amritha Vinod +3 more
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