Results 281 to 290 of about 318,952 (348)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong   +7 more
wiley   +1 more source

Visual Patterns of Diaphragmatic Motion in Acute Respiratory Failure: A Prospective Pilot Study

open access: yesJournal of Clinical Ultrasound, Volume 53, Issue 3, Page 421-428, March/April 2025.
In this prospective bicentric study, we studied the relationship between the appearance of diaphragmatic motion and the etiological diagnosis of patients admitted to the emergency department with ARF. We observed a different visual pattern in patients with pneumonia. This is an interesting result as it allows the diagnosis of pneumonia without the need
Thibaut Markarian   +7 more
wiley   +1 more source

An Evaluation of Vital Signs in Intubated Neonates Undergoing Lung Point‐of‐Care Ultrasound in the Neonatal Intensive Care Unit

open access: yesJournal of Clinical Ultrasound, EarlyView.
Lung POCUS exams do not appear to affect the cardiorespiratory stability of intubated neonates, suggesting that lung POCUS can be performed without affecting cardiorespiratory stability within the NICU setting on critically ill neonates for diagnostic purposes.
Miranda Gathright   +12 more
wiley   +1 more source

[Non-invasive positive pressure ventilation for residual OSAHS with hypercapnia: a case report]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Yang L   +6 more
europepmc   +1 more source

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