Results 61 to 70 of about 34,444 (356)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Effects of glaucoma and snoring on cerebral oxygenation in the visual cortex: a study using functional Near Infrared Spectroscopy (fNIRS) [PDF]

open access: yes, 2018
Purpose: The purpose of this study was to investigate the effects of snoring and glaucoma on the visual Haemodynamic Response (HDR) using functional Near Infrared Spectroscopy (fNIRS).
Aitchison, Ross T.   +8 more
core   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Effects of Ethnicity on the Prevalence of Obstructive Sleep Apnoea in Patients with Acute Coronary Syndrome: A Pooled Analysis of the ISAACC Trial and Sleep and Stent Study. [PDF]

open access: yes, 2017
Objective: Obstructive sleep apnea (OSA) is an increasing yet under-recognized risk factor for acute coronary syndrome (ACS). We sought to determine the effects of ethnicity on the prevalence of OSA in patients presenting with ACS who participated in ...
Alicia Sánchez de la Torre   +20 more
core   +1 more source

Deciphering the skeletal interoceptive circuitry to control bone homeostasis

open access: yesBMEMat, EarlyView.
This review introduces the skeletal interoceptive circuitry, covering the ascending signals from bone tissues to the brain (sensors), the central neural circuits that integrate this information and dispatch commands (CPU), and the descending pathways that regulate bone homeostasis (effectors).
Yefeng Wu   +7 more
wiley   +1 more source

Hubungan Phantom Vibration Syndrome Terhadap Sleep Disorder dan Kondisi Stress

open access: yesJurnal Optimasi Sistem Industri, 2017
Phantom vibration syndrome is a condition where a person would feel the sensation of vibration of a cell phone as if there were incoming notification but the fact is not.
Ajeng Yeni Setianingrum
doaj   +1 more source

Sleep Apnea Syndrome in the Elderly [PDF]

open access: yesSleep, 1992
Sleep apnea syndrome (SAS) is a well established sleep disorder with high morbidity and mortality. Patients are most often middle-aged men. SAS occurs in at least 1% of the adult population. Several studies have suggested that SAS is extremely frequent in the elderly, its prevalence ranging from 18 to 73% in this group.
openaire   +2 more sources

Contribution of central sleep apnea to severe sleep apnea hypopnea syndrome

open access: yesSleep and Breathing, 2023
Abstract Purpose Central sleep apnea (CSA) is usually distinguished from obstructive sleep apnea (OSA). In fact, CSA is often a component of severe sleep apnea hypopnea syndrome (SAHS), rather than occurring alone. We investigated the clinical characteristics and polysomnography (PSG) parameters of CSA components in ...
Zhang, Guoxin   +4 more
openaire   +2 more sources

Multivariate linear regression to predict association of non‐invasive arterial stiffness with cardiovascular events

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1141-1150, April 2025.
Abstract Background Arterial stiffness is a crucial factor in determining an increase in systolic blood pressure and pulse pressure and can also predict the development of cardiovascular disease (CVD). The purpose of this study was to examine the relationship between arterial stiffness and future CVD.
Susan Darroudi   +10 more
wiley   +1 more source

Severe Obesity Hypoventilation Syndrome Treated with Auto-CPAP [PDF]

open access: yes, 2016
Summary Obesity hypoventilation syndrome (OHS) is a serious medical condition that remains undiagnosed in seriously ill hospitalized patients. Significant improvement of daytime hypercapnia can be achieved with positive airway pressure (PAP) therapy. Bi-
Fast, MD, Zhanna, Grewal, MD, Ritu G.
core   +1 more source

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