Results 101 to 110 of about 57,963 (312)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

Short Communication: First Report of Nephrocalcinosis in Aquacultured Brazilian Sardine (Sardinella brasiliensis Steindachner, 1879)

Journal of Fish Diseases, EarlyView.
ABSTRACT While nephrocalcinosis (kidney stones) is uncommon in wild teleost fish, various environmental and nutritional factors could lead to its occurrence in aquacultured fish. This study presents the first documented case of kidney stones in aquacultured Brazilian sardine (Sardinella brasiliensis). During necropsy, eighteen hard, white kidney stones
Danielle Souza Vieira, Caio Francisco Santana Farias, Marco Shizuo Owatari, Mauricio Laterça Martins, Aline Brum, Caio Magnotti   +5 more
wiley   +1 more source

Adaptation and acclimatization to ocean acidification in marine ectotherms: an in situ transplant experiment with polychaetes at a shallow CO₂ vent system [PDF]

, 2013
Metabolic rate determines the physiological and life-history performances of ectotherms. Thus, the extent to which such rates are sensitive and plastic to environmental perturbation is central to an organism's ability to function in a changing ...
Calosi, Piero, Davidson, Laura, de Guzman, Heidi, de Guzman, Heidi J., Gambi, Maria Cristina, Giangrande, Adriana, Hardege, Jorg, Hardege, Jörg D., Jahnke, Marlene, Lombardi, Chiara, Rastrick Samuel, P S, Rastrick, Samuel P.S., Schulze, Anja, Spicer, John, Spicer, John I.   +14 more
core   +1 more source

Protocol summary and statistical analysis plan for the Targeted Therapeutic Mild Hypercapnia after Resuscitated Cardiac Arrest (TAME) trial [PDF]

, 2021
Alistair Nichol, Rinaldo Bellomo, Bridget Ady, Niklas Nielsen, Carol Hodgson, Rachael Parke, Shay McGuinness, Markus Skrifvars, Dion Stub, Stephen Bernard, Fabio Silvio Taccone, John S. Archer, Ary Serpa Neto, Tony Trapani, Kate Ainscough, Anna Hunt, Demetrios J. Kutsogiannis, Glenn M. Eastwood   +17 more
openalex   +1 more source

Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Elisabetta Ciani, Elenia Cinelli, Viviana Lo Martire, Giorgio Medici, Tommaso Mello, Elena Miglioranza, Alessandro Silvani, Donatella Mutolo, Giovanna Zoccoli   +12 more
wiley   +1 more source

Evidence-based Approach to Establish Space Suit Carbon Dioxide Limits [PDF]

A literature survey was conducted to assess if published data (evidence) could help inform a space suit carbon dioxide (CO2) limit. The search identified more than 120 documents about human interaction with elevated CO2. Until now, the guiding philosophy
Abercromby, Andrew F. J., Bekdash, Omar S., Conkin, Johnny, Downs, Meghan E., Norcross, Jason R.   +4 more
core   +1 more source

Early handling and repeated cross-fostering have opposite effect on mouse emotionality [PDF]

, 2015
Early life events have a crucial role in programming the individual phenotype and exposure to traumatic experiences during infancy can increase later risk for a variety of neuropsychiatric conditions, including mood and anxiety disorders.
Battaglia, M, CENTOFANTE, ELEONORA, D'Amato, F.r., Felsani, A, Lampis, V, LUCHETTI, ALESSANDRA, ODDI, DIEGO   +6 more
core   +2 more sources

Childhood OSAS and Obesity: Prospective Associations of Anthropometric Markers With Objective Sleep Outcomes in the CHAT Trial

Journal of Sleep Research, EarlyView.
ABSTRACT Obstructive sleep apnea syndrome (OSAS) is characterised by episodic upper airway obstruction that occurs during sleep and is common in children with obesity. The aim of the present study was to analyse the association between baseline anthropometric markers and objective sleep quality measures at follow‐up in school‐aged children with OSAS ...
Catalina Ramírez‐Contreras, Verónica Palma Elgueta, Lautaro Briones‐Suárez   +2 more
wiley   +1 more source

Influence of hypercapnia and hypercapnic hypoxia on the heart rate response to apnea

Physiological Reports
We aimed to determine the relative contribution of hypercapnia and hypoxia to the bradycardic response to apneas. We hypothesized that apneas with hypercapnia would cause greater bradycardia than normoxia, similar to the response seen with hypoxia, and ...
Benjamin R. O'Croinin, Desmond A. Young, Lauren E. Maier, Sean vanDiepen, Trevor A. Day, Craig D. Steinback   +5 more
doaj   +1 more source

Effect of carbon dioxide inhalation on pulmonary hypertension induced by increased blood flow and hypoxia

Kaohsiung Journal of Medical Sciences, 2011
There is now increasing evidence from the experimental and clinical setting that therapeutic hypercapnia from intentionally inspired carbon dioxide (CO2) or lower tidal volume might be a beneficial adjunct to the strategies of mechanical ventilation in ...
I-Chun Chuang, Rei-Cheng Yang, Shah-Hwa Chou, Li-Ru Huang, Tsen-Ni Tsai, Huei-Ping Dong, Ming-Shyan Huang   +6 more
doaj   +1 more source