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981
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
منشور في 2023"…Here we describe male triplets, clinically presenting with the phenotype of subtle but distinctive facial features, intellectual disability, increased body weight, neonatal EOEE, and prominently variable abnormal behaviors of autism and sexual arousal. …"
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982
"Thrombosis takedown, safeguarding your journey": QI project to raise Venous Thromboembolism (VTE) awareness among staff and patients at Hamad International Airport, North Node Cli...
منشور في 2024"…<h3>Background</h3><p dir="ltr">Venous thromboembolism (VTE) is the underlying cause of 1 in 4 deaths worldwide, the third leading cause of cardiovascular deaths and the number one cause of preventable deaths in hospitalized patients. …"
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983
Vitamin D Association With Macrophage-Derived Cytokines in Polycystic Ovary Syndrome: An Enhanced Risk of COVID-19 Infection?
منشور في 2021"…Alveolar macrophage-derived cytokines contribute to the inflammation underlying pulmonary disease in COVID-19. We sought to determine if basal macrophage activation, as a risk factor for COVID-19 infection, was present in PCOS and, if so, was further enhanced by vitamin D deficiency.…"
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984
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985
Diagnosis and management of dementia with Lewy bodies
منشور في 2017"…Substantial new information has been incorporated about previously reported aspects of DLB, with increased diagnostic weighting given to REM sleep behavior disorder and <sup>123</sup>iodine-metaiodobenzylguanidine (MIBG) myocardial scintigraphy. …"
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986
Gender and care
منشور في 2009"…In the context of the global HIV/AIDS epidemic, gender is an important underlying factor in HIV risk perception, risk of infection, access to HIV testing, care, and support, and the ability to cope when infected or affected by HIV. …"
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article -
987
Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration
منشور في 2024"…</u> </p><h3>Objective</h3><p dir="ltr">To characterize functional cellular mechanisms underlying the <u>immune dysregulation</u> phenotype in a <u>proband</u> with a mutated <i><u>TRPM4 </u></i>gene. …"
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988
Profiling the autoantibody repertoire reveals autoantibodies associated with mild cognitive impairment and dementia
منشور في 2023"…The exact mechanisms underlying the initiation and progression of the disease remain to be fully defined. …"
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989
Global Burden of Cardiovascular Diseases and Risk Factors, 1990–2019
منشور في 2020"…This paper reviews the magnitude of total CVD burden, including 13 underlying causes of cardiovascular death and 9 related risk factors, using estimates from the Global Burden of Disease (GBD) Study 2019. …"
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990
''Effectiveness of Non-invasive Positive Pressure Ventilation in ELBW Infants: A Comparison of Successful and Failed Outcomes''
منشور في 2023"…Non-invasive positive pressure ventilation (NIPPV) has become an increasingly popular mode of respiratory support for these infants. …"
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991
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992
Association of Complement-Related Proteins in Subjects With and Without Second Trimester Gestational Diabetes
منشور في 2021"…<h3>Introduction</h3><p dir="ltr">Gestational Diabetes Mellitus (GDM) development is related to underlying metabolic syndrome that is associated with elevated complement C3 and C4. …"
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993
Measuring the availability of human resources for health and its relationship to universal health coverage for 204 countries and territories from 1990 to 2019: a systematic analysi...
منشور في 2022"…The largest shortages are in low-income settings, highlighting the need for increased financing and coordination to train, employ, and retain human resources in the health sector. …"
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994
Deletion of <i>RFX6</i> impairs iPSC-derived islet organoid development and survival, with no impact on PDX1<sup>+</sup>/NKX6.1<sup>+</sup> progenitors
منشور في 2024"…Here, we aimed to understand the mechanisms underlying the impairment of pancreatic islet development and subsequent hypoplasia due to loss-of-function mutations in <i>RFX6</i>.…"