Results 241 to 250 of about 146,778 (328)

Neonatal Respiration Monitoring System with Synchronized Oxygen Supply and Machine Learning‐Based Breathing Classification

open access: yesAdvanced Intelligent Systems, EarlyView.
The study presents a low‐cost, noninvasive system for real‐time neonatal respiratory monitoring. A flexible, screen‐printed sensor patch captures chest movements with high sensitivity and minimal drift. Combined with machine learning, the system accurately detects breathing patterns and offers a practical solution for neonatal care in low‐resource ...
Gitansh Verma   +3 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Brain Abscess Presenting as Prolonged Headache in a Patient with Amyotrophic Lateral Sclerosis under Mechanical Ventilation

open access: diamond, 2019
Yoya Ono   +8 more
openalex   +2 more sources

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen   +9 more
wiley   +1 more source

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