Results 41 to 50 of about 1,591,227 (261)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Review of surgical treatment in the obstructive sleep apnea syndrome

Sleep Science, 2011
Obstructive sleep apnea syndrome is a prevalent disease that results in cardiovascular, metabolic, and cognitive complications. The major treatment modality has been the positive airway pressure device, but adherence to this form of treatment has been ...
Tatiana de Aguiar Vidigal, Fernanda Louise Martinho Haddad, Luiz Carlos Gregório, Sergio Tufik, Lia Rita Azeredo Bittencourt   +4 more
doaj   +1 more source

Sleep Apnea and Metabolic Dysfunction(Metabolic Syndrome) [PDF]

, 2007
The metabolic syndrome represents a clustering of several interrelated risk factors of metabolic origin that are thought to increase cardiovascular risk.
허경
core   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Sleep apnea in people with Down syndrome: Causes and effects of physical activity?

Frontiers in Neurology, 2023
Poor sleep quality is recognized as a major risk factor for poor health, increasing the incidence of serious chronic diseases. In people with Down syndrome, sleep apnea prevalence is significantly greater, it is caused by genetic, anatomical, endocrine ...
Duy-Thai Nguyen, Duy-Thai Nguyen, Véronique-Aurélie Bricout, Hong-Tram Tran, Van-Hung Pham, Sy Duong-Quy, Sy Duong-Quy, Sy Duong-Quy, Sy Duong-Quy   +8 more
doaj   +1 more source

Preoperative Evaluation in Obstructive Sleep Apnea Syndrome [PDF]

, 2015
In patients with Obstructive sleep apnea syndrome (OSAS), preoperative evaluation should be routinely done in all patients with OSAS undergoing surgery or in all patients suspected to have OSAS to avoid problems during perioperative (pre-intra-post ...
Oya İtil, Itil, Oya
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Obstructive Sleep Apnoea: a dental perspective [PDF]

, 2003
Obstructive sleep apnoea (OSA) is regarded as a potentially life threatening breathing disorder characterised by periodic cessation of air intake during sleep.
Mulligan, Kevin M.
core  

Exposure‐adjusted safety and efficacy of GLP‐I and GLP‐1/GIP receptor agonists compared with non‐GLP‐I for weight management and type 2 diabetes: Based on FDA medical and statistical reports of 34 280 safety and 36 312 efficacy subjects

British Journal of Clinical Pharmacology, EarlyView.
Aims This work aimed to contextualize glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) and glucose‐dependent insulinotropic polypeptide (GIP) receptor agonists safety and efficacy regarding weight management (WM); we analysed Food and Drug Administration (FDA) Medical Reviews to analyse 14 medications using patient‐exposure year normalization and ...
Aishwarya Prasad, Anshu Arora, Arun Arora, Jeena Vaid, Arif Khan   +4 more
wiley   +1 more source

Hypertension in obesity: A focus on individualized pharmacotherapy and the role of body composition, on behalf of the European Society of Hypertension Working Group on Diabetes and Metabolic Risk Factors and Working Group on Lifestyle, Cardiovascular Pharmacotherapy and Adherence

British Journal of Clinical Pharmacology, EarlyView.
Hypertension in obesity represents a major global health challenge, closely linked to the global epidemics of obesity, type 2 diabetes and metabolic dysfunction. Excess adiposity contributes to elevated blood pressure through multiple, interrelated mechanisms, including activation of the renin–angiotensin–aldosterone system, sympathetic nervous system ...
Christina Antza, Andrej Belancic, Jens Jordan, Alberto Esteban, Anna Oliveras, Ryan McNally, Panagiota Anyfanti, Jorie Versmissen, María S. Fernández‐Alfonso, Vasilios Kotsis, Thomas Weber, Alexandre Persu, Reinhold Kreutz   +12 more
wiley   +1 more source