Results 51 to 60 of about 263,095 (308)

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Speech nasality and nasometry in cleft lip and palate

Brazilian Journal of Otorhinolaryngology
INTRODUCTION: Perceptual evaluation is considered the gold standard to evaluate speech nasality. Several procedures are used to collect and analyze perceptual data, which makes it susceptible to errors.
Fabiane Rodrigues Larangeira, Jeniffer de Cássia Rillo Dutka, Melina Evangelista Whitaker, Olívia Mesquita Vieira de Souza, José Roberto Pereira Lauris, Mariana Jales Felix da Silva, Maria Inês Pegoraro-Krook   +6 more
doaj   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Measurement of Voice Onset Time in Maxillectomy Patients

The Scientific World Journal, 2014
Objective speech evaluation using acoustic measurement is needed for the proper rehabilitation of maxillectomy patients. For digital evaluation of consonants, measurement of voice onset time is one option.
Mariko Hattori, Yuka I. Sumita, Hisashi Taniguchi   +2 more
doaj   +1 more source

Measuring Syntactic Complexity in Spoken and Written Learner Language: Comparing the Incomparable? [PDF]

, 2014
Spoken and written language are two modes of language. When learners aim at higher skill levels, the expected outcome of successful second language learning is usually to become a fluent speaker and writer who can produce accurate and complex language in
Bardovi, Bardovi, Baron, Baron, Beaman, Beaman, Bergman, Bergman, Bourdin, Bourdin, Brown, Brown, Bulté, Bulté, Cambridge, Cambridge, Cleland, Cleland, Conrad, Conrad, Ellis, Ellis, Ellis, Ellis, Foster, Foster, Gaies, Gaies, Gilabert, Gilabert, Halleck, Halleck, Halliday, Halliday, Halliday, Halliday, Housen, Housen, Housen, Housen, Housen, Housen, Hunt, Hunt, Ishikawa, Ishikawa, Ishikawa, Ishikawa, Iwashita, Iwashita, Kuiken, Kuiken, Larsen, Larsen, Larsen, Larsen, Larson, Larson, Leech, Leech, Mari Mäkilä, Norris, Norris, Norwood, Norwood, Ortega, Ortega, Ortega, Ortega, Pallotti, Pallotti, Pekka Lintunen, Pica, Pica, Pietilä, Pietilä, Robinson, Robinson, Robinson, Robinson, Scarborough, Scarborough, Sharma, Sharma, Silva, Silva, Silva, Silva, Skehan, Skehan, Skehan, Skehan, Storch, Storch, Szmrecsányi, Szmrecsányi, Tanskanen, Tanskanen, Tavakoli, Tavakoli, Tonkyn, Tonkyn, Towell, Towell, Vyatkina, Vyatkina, Wolfe, Wolfe, Zhang, Zhang   +109 more
core   +2 more sources

Whole-word measures and the speech production of typically developing Dutch children

Clinical Linguistics & Phonetics, 2019
In this study, the phonological whole-word measure Phonological Mean Length of Utterance was applied to identify stages in the phonological acquisition of Dutch children. Ninety spontaneous speech samples of 47 typically developing Dutch children from a previous study were examined.
Mieke Beers, Marianne Rodenburg-Van Wee, Ellen Gerrits   +2 more
openaire   +2 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Impacto do uso do SpeechEasy® nos parâmetros acústicos e motores da fala de indivíduos com gagueira

Audiology: Communication Research
Objetivo Investigar variações nas habilidades motoras da fala em adultos com e sem gagueira, utilizando o dispositivo de alteração do feedback auditivo SpeechEasy®.
Ana Paula Ritto, Fabiola Staróbole Juste, Claudia Regina Furquim de Andrade   +2 more
doaj   +1 more source

Vocal Parameters of Adults with Down Syndrome in Zahedan /Iran [PDF]

Journal of Kerman University of Medical Sciences, 2009
Background & Aims: Previous studies have indicated significant differences in vocal parameters between children with Down syndrome and normal children, but there are challenges about these differences. In this study vocal parameters and Maximum Phonation
M.S Sif panahi, T Salmalian, M Dehghan
doaj  

La sílaba en la producción del habla de individuos con afasia de Broca The syllable in production of speech for individuals with Broca's aphasia

Revista CEFAC, 2008
OBJETIVOS: analizar los sonidos [+ líquidos] en dos tipos de estructura silábica en la producción de habla de 35 hablantes de español con afasia de Broca con el fin de determinar si dichas estructuras se conservan o se pierden.
Hernán Martínez Matos
doaj   +1 more source