Results 81 to 90 of about 161,549 (392)

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

Prevalence of Obstructive Sleep Apnea in 6–9-Year-Old Children of Visnagar: A Cross-Sectional Study [PDF]

Sleep Medicine Research
Background and Objective The prevalence of sleep-disordered breathing is extremely high, yet it is largely ignored. Significant adverse medical and psychological outcomes are associated with sleep-related respiratory disorders, including obstructive ...
Shoba Fernandes, Zeel Shah, Swetal Agrawal, Yash Bafna, Dharati Patel, Dimpal Parmar   +5 more
doaj   +1 more source

Interrelationship Between Obstructive Sleep Apnea Syndrome and Severe Asthma: From Endo-Phenotype to Clinical Aspects [PDF]

, 2021
Beatrice Ragnoli, Patrizia Pochetti, Alberto Raie, Mario Malerba   +3 more
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Surgical treatment of a Pattern I Obstructive Sleep Apnea Syndrome individual - clinical case report [PDF]

Sleep Science
Obstructive Sleep Apnea Syndrome (OSA) is a multifactorial disease that highly alters a persons quality of life. It is characterized by the repeated interruption of breathing during sleep, due to an obstruction or the collapse of the ...
Christiane Cavalcante Feitoza, Matheus Corrêa da-Silva, Yasmim Lima Nascimento, Elaine Sobral Leite, Corintho Viana Pereira, Lucas Gomes Patrocínio   +5 more
doaj   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Management of rapid eye movement sleep behavior disorder in patients with Parkinson's disease [PDF]

, 2016
Among all of the devastating effects that Parkinson’s disease (PD) has on an individual, sleep dysfunction is one that can have a profound effect on the entire family of the patient. The most potentially destructive of these sleep syndromes being that of
Jeffries, Michael
core   +1 more source

Pain-related diseases and sleep disorders [PDF]

, 2012
Pain and sleep share mutual relations under the influence of cognitive and neuroendocrine changes. Sleep is an important homeostatic feature and, when impaired, contributes to the development or worsening of pain-related diseases.
Roizenblatt, Marina, Roizenblatt, Suely, Rosa Neto, Nilton Salles, Tufik, Sergio   +3 more
core   +4 more sources

Efficacy and safety of a selective partial agonist for nociception/orphanin‐FQ peptide (NOP) receptors in patients with insomnia disorder

British Journal of Clinical Pharmacology, EarlyView.
Aims Insomnia is a common sleep disorder, affecting up to 20% of the world population and adversely impacting productivity, health, and overall well‐being. Although pharmacologic options exist to treat insomnia, the health‐related quality of life for patients who are prescribed hypnotics is no higher than for those who are not, revealing a significant ...
Garth T. Whiteside, Ellie He, Manjunath S. Shet, Mingyan Zhou, Maha Ahmad, Stephen C. Harris   +5 more
wiley   +1 more source

Mechanisms and Management of Obstructive Sleep Apnea: A Translational Overview [PDF]

Clinical and Experimental Otorhinolaryngology
Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of upper airway obstruction during sleep, resulting in apnea and hypopnea.
Yun Jin Kang, Chan-Soon Park
doaj   +1 more source