Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.45836
Abstract: Key Points Questions What is the incidence rate of germline alterations in CDH1, which has been reported as a susceptibility gene present in 25% to 50% of patients with hereditary diffuse gastric cancer (HDGC), and… read more here.
Keywords: germline alterations; patients hereditary; hereditary diffuse; gastric cancer ... See more keywords
Urological dysfunction in patients with hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2019 at "Neurourology and Urodynamics"
DOI: 10.1002/nau.23957
Abstract: Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP), and to characterize LUTS management and associated uronephrological complications. read more here.
Keywords: hereditary spastic; dysfunction patients; urological dysfunction; spastic paraplegia ... See more keywords
Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2019 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-019-05758-1
Abstract: Background Nasal closure, also known as the modified Young’s procedure was introduced in Denmark in 2008, as a surgical solution to severe epistaxis in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to report… read more here.
Keywords: closure; hereditary haemorrhagic; haemorrhagic telangiectasia; patients hereditary ... See more keywords
Incidence and impact of brain metastasis in patients with hereditary BRCA1 or BRCA2 mutated invasive breast cancer
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DOI: 10.1038/s41523-022-00407-z
Abstract: Patients with hereditary mutations in BRCA1 or BRCA2 (gBRCA1/2) and breast cancer have distinct tumor biology, and encompass a predilection for brain metastasis (BM). We looked into baseline risk of BMs among gBRCA1/2 patients. Patients… read more here.
Keywords: bms; patients hereditary; breast cancer; breast ... See more keywords
Reliability of the Masada Classification for Forearm Involvement in Patients With Hereditary Multiple Osteochondromas (HMO)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000002287
Abstract: Background: Classifications describing forearm lesions in patients with Hereditary Multiple Osteochondromatosis (HMO) have been used to recommend surgical intervention and stratify outcomes; however, there is no consensus on which classification offers greater reliability. The purpose… read more here.
Keywords: agreement; patients hereditary; classification; reliability ... See more keywords
Occurrence and management of severe bleeding episodes in patients with hereditary factor X deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Haemophilia"
DOI: 10.1111/hae.14223
Abstract: Vitamin K–dependent factor X (FX) plays an important role in thrombin formation, and a deficiency in FX can cause impaired coagulation, the severity of which is usually correlated with the degree of deficiency. Due to… read more here.
Keywords: severe bleeding; management severe; occurrence management; factor ... See more keywords
Changes in Biomarkers of Coagulation, Fibrinolytic, and Endothelial Functions for Evaluating the Predisposition to Venous Thromboembolism in Patients With Hereditary Thrombophilia
Sign Up to like & getrecommendations! Published in 2020 at "Clinical and Applied Thrombosis/Hemostasis"
DOI: 10.1177/1076029620944471
Abstract: The changes in the coagulation, fibrinolytic, and endothelial functions are correlated with the pathophysiology of the thromboembolic diseases during acute illness. However, these changes in patients with hereditary thrombophilia who were not in the acute… read more here.
Keywords: hereditary thrombophilia; coagulation fibrinolytic; venous thromboembolism; fibrinolytic endothelial ... See more keywords
Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "BMC Infectious Diseases"
DOI: 10.1186/s12879-018-2956-5
Abstract: BackgroundIn the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in… read more here.
Keywords: infective endocarditis; hereditary hemorrhagic; case; review ... See more keywords
[Electrophysiological and psychophysical studies in assessment of visual functions in patients with hereditary optic neuropathy].
Sign Up to like & getrecommendations! Published in 2022 at "Vestnik oftalmologii"
DOI: 10.17116/oftalma20221380215
Abstract: PURPOSE To study the capabilities of electrophysiological and psychophysical examination methods for assessment of the functional state of ganglion cells, retina and optic nerve in patients with hereditary optic neuropathy (HON). MATERIAL AND METHODS The… read more here.
Keywords: patients hereditary; optic neuropathy; visual functions; hereditary optic ... See more keywords
Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph19106182
Abstract: Clinical screening using the National Comprehensive Cancer Network (NCCN) testing criteria may fail to identify all patients with hereditary breast and ovarian cancers. Thus, this study aimed to evaluate the strategy of expanding target patients… read more here.
Keywords: patients hereditary; breast; japanese patients; breast ovarian ... See more keywords
Osteonecrosis of the Jaws in Patients with Hereditary Thrombophilia/Hypofibrinolysis—From Pathophysiology to Therapeutic Implications
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23020640
Abstract: Osteonecrosis of the jaws (ONJ) usually has a clear etiology. Local infection or trauma, radiotherapy and drugs that disrupt the vascular supply or bone turnover in the jaws are its major contributors. The thrombotic occlusion… read more here.
Keywords: jaws patients; osteonecrosis jaws; hereditary thrombophilia; patients hereditary ... See more keywords