Increased interstage morbidity and mortality following stage 1 palliation in patients with genetic abnormalities.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122000166
Abstract: BACKGROUND Hypoplastic left heart syndrome and single ventricle variants with aortic hypoplasia are commonly classified as severe forms of CHD. We hypothesised patients with these severe defects and reported genetic abnormalities have increased morbidity and… read more here.
Keywords: genetic abnormalities; stage palliation; morbidity mortality;
Pathogenesis and treatment of primary aldosteronism
Sign Up to like & getrecommendations! Published in 2020 at "Nature Reviews Endocrinology"
DOI: 10.1038/s41574-020-0382-4
Abstract: Early diagnosis and appropriate treatment of primary aldosteronism, the most frequent cause of secondary hypertension, are crucial to prevent deleterious cardiovascular outcomes. In the past decade, the discovery of genetic abnormalities responsible for sporadic and… read more here.
Keywords: genetic abnormalities; aldosteronism; primary aldosteronism; treatment primary ... See more keywords
The clinical value of identifying genetic abnormalities that can be targeted in cholangiocarcinomas
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Anticancer Therapy"
DOI: 10.1080/14737140.2023.2170878
Abstract: ABSTRACT Introduction Cholangiocarcinomas (CCAs) are a heterogenous group of epithelial malignancies originating at any level of the biliary tree and are subdivided according to their location into intrahepatic (iCCA) and extrahepatic (eCCA). Areas covered This… read more here.
Keywords: abnormalities targeted; clinical value; value identifying; targeted cholangiocarcinomas ... See more keywords
Genetic abnormalities leading to qualitative defects of sperm morphology or function
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DOI: 10.1111/cge.12905
Abstract: Infertility, defined by the inability of conceiving a child after 1 year is estimated to concern approximately 50 million couples worldwide. As the male gamete is readily accessible and can be studied by a simple… read more here.
Keywords: sperm morphology; morphology function; infertility; genetic abnormalities ... See more keywords
Uterine mesenchymal tumours: recent advances
Sign Up to like & getrecommendations! Published in 2020 at "Histopathology"
DOI: 10.1111/his.14008
Abstract: Almost all uterine mesenchymal tumours have been historically classified as either smooth muscle or endometrial stromal neoplasms. Recent application of molecular techniques has identified numerous lesions with distinctive genetic abnormalities and clinicopathological characteristics. Newly discovered… read more here.
Keywords: mesenchymal tumours; genetic abnormalities; sarcomas; tumours recent ... See more keywords
Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.
Sign Up to like & getrecommendations! Published in 2023 at "Haematologica"
DOI: 10.3324/haematol.2022.282184
Abstract: The BCR::ABL1 gene fusion initiates chronic myeloid leukemia (CML), however evidence has accumulated from studies of highly selected cohorts that variants in other cancer-related genes are associated with treatment failure. Nevertheless, the true incidence and… read more here.
Keywords: imatinib treated; proactive treatment; diagnosis; bcr abl1 ... See more keywords
[Genetic characteristics and prognostic analysis of 162 fetal cardiac abnormalities].
Sign Up to like & getrecommendations! Published in 2022 at "Zhonghua fu chan ke za zhi"
DOI: 10.3760/cma.j.cn112141-20220217-00101
Abstract: Objective: To analyze the type and characteristics of fetal cardiac abnormalities and their relationships with genetic abnormalities and clinical prognosis. Methods: The clinical data of 162 pregnant women with fetal cardiac abnormalities who came to… read more here.
Keywords: pathogenic genetic; cardiac abnormalities; cases 162; pregnancy ... See more keywords
[Analysis of genetic abnormalities and clinical outcome of fetus with ultrasonic nonstructural abnormality].
Sign Up to like & getrecommendations! Published in 2021 at "Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]"
DOI: 10.3760/cma.j.cn112150-20210326-00307
Abstract: Objective: To analysis the incidence of abnormal genetics and the clinical outcome of fetuses with ultrasonic nonstructural abnormality. Methods: This study was conducted retrospectively. 631 pregnant women were enrolled in the Prenatal Diagnostic Center of… read more here.
Keywords: genetic abnormalities; analysis; nonstructural abnormality; group ... See more keywords