Results 171 to 180 of about 53,295 (264)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Failed Awake Flexible Intubation Followed by Early Surgical Tracheostomy in Advanced Laryngeal Cancer: A Case Report. [PDF]

Case Rep Anesthesiol
Kim B, Lee H, Park JH.
europepmc   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

From PICU to home: a longitudinal airway safety framework for children with tracheostomies. [PDF]

Front Pediatr
Yang Z, Dang H.
europepmc   +1 more source

Respiratory Care Trajectory in Patients With Duchenne Muscular Dystrophy in the Advanced Stage: A Retrospective Single‐Center Study

Muscle &Nerve, Volume 74, Issue 5, Page 1429-1434, November 2026.
ABSTRACT Introduction/Aims Data on respiratory status and care in older adults with Duchenne muscular dystrophy (DMD) remain limited. This study aimed to characterize respiratory status, respiratory physiotherapy, and associated clinical features in patients with DMD aged ≥ 30 years.
Keisuke Yorimoto, Yosuke Ariake, Yuta Miyazaki, Hotake Takizawa, Yuko Shimizu‐Motohashi, Hirofumi Komaki, Yuji Takahashi, Takatoshi Hara   +7 more
wiley   +1 more source

Predictive Modeling of the Need for Tracheostomy after Traumatic Cervical Spinal Cord Injury Using Machine Learning. [PDF]

Yonsei Med J
Lee EJ, Kwon B, Kim S, Noh SH.
europepmc   +1 more source

A Pilot and Feasibility Study of a Four‐Stage Neurological Staging Framework in Pediatric Tracheal Extubation During Anesthesia Emergence

Pediatric Anesthesia, Volume 36, Issue 11, Page 1409-1416, November 2026.
ABSTRACT Background Postoperative tracheal extubation is a particularly high‐risk period in pediatric anesthesia. Because emergence from anesthesia is a complex and complicated process, determining the optimal timing for safe tracheal extubation remains challenging.
Megumi Okuyama, Katsuhiko Ishibashi, Shiori Nakao, Tomoharu Ukiya, Kohei Takahashi, Taiki Kojima   +5 more
wiley   +1 more source

Surviving Separation: Laryngotracheal Injury in Blunt Neck Trauma-A Case Report and Review. [PDF]

Case Rep Otolaryngol
John R, Soh L, Huang L, Wong D, Huang X.
europepmc   +1 more source

A Sedation Protocol for Endoscopic Baton‐Plate Adjustment in Neonates With Pierre Robin Sequence

Pediatric Anesthesia, Volume 36, Issue 11, Page 1449-1457, November 2026.
ABSTRACT Background Robin sequence (RS) is characterized by upper airway obstruction leading to life‐threatening desaturations in neonates. Procedural sedation in this population presents unique challenges due to anatomical airway anomalies, young patient age, and associated comorbidities.
Nicolas Leister, Sarah Achterrath, Uwe Trieschmann, Teresa Kruse, Bert Braumann, Volker C. Schick   +5 more
wiley   +1 more source

Factors associated with delayed decannulation within 180 days after pediatric tracheostomy in the PICU: a retrospective cohort study. [PDF]

Front Pediatr
Xu W, Sun J, Ji J, Zeng J, Li Z, Wang Q, Fan C, Qian S.   +7 more
europepmc   +1 more source