Results 31 to 40 of about 19,566 (260)

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

American 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, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Obstructive sleep apnea syndrome

Systemic Hypertension, 2009
The paper describes the major mechanisms of occurrence of obstructive sleep apnea syndrome (OSAS). Large populationbased randomized studies in this area show the importance and prevalence of obstructive sleep respiratory disorders and provide evidence for their clinical significance in the practice of a therapist and cardiologist.
Chazova I E, I E Chazova, Irina Chazova, Aleksandr Yur'evich Litvin, Alexander Litvin, Litvin A Y   +5 more
openaire   +5 more sources

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

, 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

The prevalence of resistant arterial hypertension and secondary causes in a cohort of hypertensive patients: a single center experience [PDF]

, 2017
The prevalence of resistant hypertension (RHT) still remains unknown. Aim of the study was to investigate in a large cohort of hypertensive patients the prevalence of RHT, and to identify in these patients the secondary forms of arterial hypertension (SH)
Concistre, Antonio, Costi, Umberto, D'Ermo, Giuseppe, DE TOMA, Giorgio, DE VINCENTIS, Giuseppe, Iannucci, Gino, Letizia, Claudio, Lucia, Piernatale, Marinelli, Cristiano, Matteo, Galassi, Olmati, Federica, Pergolini, Mario Sergio, Petramala, Luigi, Tonnarini, Gian Franco   +13 more
core   +2 more sources

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Sleep Apnea Syndrome in the Elderly [PDF]

Sleep, 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

Sleep 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, Zhao, Xiaoyun, Zhao, Fang, Tan, Jin, Zhang, Qiang   +4 more
openaire   +2 more sources

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

Annals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano, Ilaria Mosca, Licia Salimbene, Angela De Dominicis, Paolo Ambrosino, Deborah Puzo, Ilenio Servettini, Cinzia Correale, Chiara Falamesca, Cristina Filosomi, Bianca Goffredo, Maria Virginia Soldovieri, Maurizio Taglialatela, Nicola Specchio   +13 more
wiley   +1 more source

Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the differences in cyclic alternating patterns (CAP) metrics, a non‐rapid eye movement (NREM) sleep physiological rhythm, among recently diagnosed patients with Parkinson's disease (PD), and individuals at high and low risk for developing PD based on genetic and prodromal risk.
Andrew Dagay, Shlomit Katzav, Danielle Wasserman, Valentina Gnoni, Anat Mirelman, Riva Tauman   +5 more
wiley   +1 more source