Results 101 to 110 of about 18,550 (219)
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Pediatric asthma is a common chronic airway inflammatory disease, where accurate assessment of disease severity and prognosis prediction is crucial for treatment decisions. Currently, there is a lack of precise and effective biomarkers.
Xu Yang +5 more
wiley +1 more source
Adjunctive Hyperbaric Oxygen Therapy or Intratympanic Steroids in Sudden Sensorineural Hearing Loss?
The Laryngoscope, EarlyView.Sudden sensorineural hearing loss is traditionally treated with steroids, either orally and/or via intratympanic injections, and hyperbaric oxygen treatment (HBOT) has resurged in popularity as an adjunctive therapy. The study has not found any additional treatment benefit with adjunctive concurrent HBOT; however, HBOT might be of value to patients ...
Jennifer L. Spiegel +9 more
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances
Mass Spectrometry Reviews, EarlyView.Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley +1 more source
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet +47 more
wiley +1 more source
Review of nutrition management of pediatric intestinal pseudo‐obstruction
Nutrition in Clinical Practice, EarlyView.Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman +5 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source