Results 71 to 80 of about 171,888 (396)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Noninvasive ventilation in hypoxemic respiratory failure

The Journal of Association of Chest Physicians, 2016
Noninvasive ventilation (NIV) refers to positive pressure ventilation delivered through a noninvasive interface (nasal mask, facemask, or nasal plugs) etc.
Raja Dhar, Dipansu Ghosh, S Krishnan
doaj   +1 more source

Domiciliary nasal respiratory support : first experiences in Malta [PDF]

, 1997
Nasal respiratory support is a non-invasive alternative to conventional assisted ventilation with endotracheal intubation, or the more cumbersome negative pressure ventilators.
Camilleri, R., Galea Debono, Anthony, Montefort, Stephen   +2 more
core  

Tension Pneumocephalus Related to Spontaneous Skull Base Dehiscence in a Patient on BiPAP [PDF]

, 2016
Spontaneous pneumocephalus is an uncommon phenomenon that may develop in patients with occult skull base defects. There have been reports of pneumocephalus occurring spontaneously in the setting of continuous positive airway pressure (CPAP) use (1 ...
Hubbell, Richard D., Nelson, Rick F., Wannemuehler, Todd J.   +2 more
core   +1 more source

Changes in Energy Metabolism after Continuous Positive Airway Pressure for Obstructive Sleep Apnea.

American Journal of Respiratory and Critical Care Medicine, 2016
RATIONALE Disrupted energy homeostasis in obstructive sleep apnea (OSA) may lead to weight gain. Paradoxically, treating OSA with continuous positive airway pressure (CPAP) may also promote weight gain, although the underlying mechanism remains unclear.
R. Tachikawa, Kaori Ikeda, T. Minami, Takeshi Matsumoto, S. Hamada, K. Murase, K. Tanizawa, M. Inouchi, T. Oga, T. Akamizu, M. Mishima, K. Chin   +11 more
semanticscholar   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Asthma outcomes improve with continuous positive airway pressure for obstructive sleep apnea

Allergy. European Journal of Allergy and Clinical Immunology, 2016
Continuous positive airway pressure (CPAP) in asthma patients with concomitant obstructive sleep apnea syndrome (OSAS) seems to have a favorable impact on asthma, but data are inconsistent due to methodological limitations of previous studies.
J. Serrano-Pariente, V. Plaza, J. Soriano, M. Mayos, A. López-Viña, C. Picado, L. Vigil, Ana Sogo‐Sagardía, A. Crespo-Lessmann, A. M. Fortuna-Gutiérrez, M. V. González-Gutiérrez, M. P. Ortega‐Castillo, Santiago Bardagí‐Forns, Benedicta Abeijón‐Insua, María Somoza‐González, F. González-Barcala, J. L. García-Rivero, M. Gonzalez-Martinez, L. Sacristan-Bou, Andrea Trisán‐Alonso, E. Martínez-Moragón, C. Almonacid-Sánchez, C. Cisneros-Serrano,, S. Mayoralas-Alises, Milagros Figueroa‐Cézar   +24 more
semanticscholar   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Impact of early continuous positive airway pressure in the delivery room (DR-CPAP) on neonates < 1500 g in a low-resource setting: a protocol for a pilot feasibility and acceptability randomized controlled trial [PDF]

Background Preterm birth is the leading cause of childhood mortality, and respiratory distress syndrome is the predominant cause of these deaths. Early continuous positive airway pressure is effective in high-resource settings, reducing the rate of ...
Burgoine, Kathy, Denis, Amorut, Grace, Abongo, Hagmann, Cornelia Franziska, Hewitt-Smith, Adam, Loe, Kate, Martha, Muduwa, Nakiyemba, Alice, Namuyonga, Judith, Napyo, Agnes, Okello, Francis, Olupot-Olupot, Peter, Ssenkusu, John M, Wandabwa, Julius   +13 more
core   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source