Results 61 to 70 of about 1,332,430 (297)

Clinical utility of pharyngeal high‐resolution manometry with impedance for upper esophageal sphincter dysfunction in gastroenterology

open access: yesAdvances in Digestive Medicine, EarlyView.
Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar   +5 more
wiley   +1 more source

The Effects of Deep Brain Stimulation on Deglutition in Parkinson Disease

open access: yes, 2006
Relatively little is known about the role of the basal ganglia and their pathways in human deglutition. Deep Brain Stimulation (DBS) is a treatment for Parkinson Disease (PD) that stimulates the subthalamic nuclei and affords us a model for examining ...
Ciucci, Michelle Renee
core   +4 more sources

Value of the Cervical Auscultation in Patients Affected by Neurogenic Dysphagia

open access: yesInternational Archives of Otorhinolaryngology, 2009
Introduction: The cervical auscultation is an instrumental resource used in the functional clinical phonoaudiological approach of feeding and the pulmonary auscultation is a semiotic method for clinical exploitation of the thorax and the heart. Objective:
Fontoura, Elisiane Godoy   +1 more
doaj  

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf   +7 more
wiley   +1 more source

Deglutition dynamics of patients with obstructive sleep apnea [PDF]

open access: yes
Objectives: In the present study, we performed a detailed analysis of deglutitive dynamics during sleep in patients with obstructive sleep apnea (OSA) using a methodology developed by Sato et al.
Kaneko, Masamichi   +32 more
core   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes   +5 more
wiley   +1 more source

Swallowing patterns after adenotonsillectomy in children

open access: yesPediatric Investigation, 2019
Importance Hypertrophy of the pharyngeal and palatine tonsils can interfere with breathing, physical and cognitive development, and quality of life, including sleep quality.
Anete Antunes deOliveira Branco   +4 more
doaj   +1 more source

Dysarthria and deglutition assessments in 66 PD patients.

open access: yes, 2016
Dysarthria and deglutition assessments in 66 PD patients.
Alain Duhamel (286617)   +12 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

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