Results 51 to 60 of about 2,866,287 (294)

The Test of Masticating and Swallowing Solids (TOMASS): Normative data for the adult Indian population

Data in Brief, 2021
This data article accompanies the manuscript titled ‘The Test of Masticating and Swallowing Solids (TOMASS): reliability, validity and normative data for the adult Indian population.’ TOMASS is a widely used procedure to assess the effectiveness of solid
Rahul Krishnamurthy, Siddarth Kothari, Radish Kumar Balasubramanium, Maggie-Lee Huckabee   +3 more
doaj  

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Swallowing patterns after adenotonsillectomy in children

Pediatric 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, Camila deCastro Corrêa, Daniela deSouza Neves, Tais Huehara, Silke Anna Theresa Weber   +4 more
doaj   +1 more source

The Practicability of Transnasal Esophagoscopy and the Evaluation of Patient’s Perception: A Prospective Study [PDF]

Clinical and Experimental Otorhinolaryngology, 2016
Objectives Transnasal esophagoscopy (TNE) is a relatively new diagnostic procedure in the evaluation of patients with globus sensation and dysphagia. Enabling doctors to examine all of the upper aerodigestive system without the need for sedation, this ...
Bahtiyar Polat, Serdar Karahatay, Hakan Birkent, Mustafa Gerek   +3 more
doaj   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Value of the Cervical Auscultation in Patients Affected by Neurogenic Dysphagia

International 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, Cardoso, Maria Cristina de Almeida Freitas   +1 more
doaj  

Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

Tremor and Other Hyperkinetic Movements, 2017
Background: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition.
Julie M. Barkmeier-Kraemer, Heather M. Clark   +1 more
doaj   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source