Results 61 to 70 of about 13,641 (295)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The role of ENT surgeons in snoring assessment : some prospective preliminary evidence [PDF]

, 2008
Objectives: To determine (i) the prevalence of unsuspected upper aerodigestive tract disease in snorers, (ii) the diagnostic yield of routine flexible endoscopy and (iii) the relationship between symptoms of upper aerodigestive tract disease and ...
Elshaug, Jessen, Jones, Low, Rappai, Robertson, Scottish Intercollegiate Guidelines Network, Virkkula, White   +8 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

The correction of nasal septal deviations in rhinoplasty [PDF]

Annals of Oral and Maxillofacial Surgery, 2013
to the increased risk of recurrence. From the critical review, the extracorporeal septoplasty technique seems more reliable in such cases. In particular, the modified conservative approach has demonstrated to achieve an adequate septum remodelling with cartilage spare and to avoid post-operative dorsum irregularities compared with the more traditional ...
GF Marangi, D Lazzeri, F Segreto, B Brunetti, Buono Del, M Signoretti, V Toto, P Persichetti   +7 more
openaire   +1 more source

Schwannoma of the nasal septum-a case report [PDF]

, 2012
Schwannomas of the nasal cavity and paranasal sinuses are very rare. We report the case of a50-year-old woman with a schwannoma arising from the nasal septum.
Felix, Vinod, Janardhanan, Sunil, Kulothungan, Kulothungan   +2 more
core   +1 more source

Asymptomatic lacrimal flow abnormalities in patients with septal deviations and turbinate hypertrophy [PDF]

, 2008
Background: This study aimed to investigate the lacrimal flow in patients affected by septal deviations and turbinate hypertrophy and to evaluate changes after rhinoseptoplasty with dacryocystography (DCT) and computed tomographic dacryocystography (CT ...
Bottini, Dj, Cervelli, V, Colicchia, Gm, Garzione, F, Gravante, G, Grimaldi, M, Torcia, Pl   +6 more
core   +1 more source

Rationale of New Grading System: Central Compartment Atopic Disease

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna, Carmen Palma‐Martínez, Serafin Sánchez‐Gómez, Isam Alobid, Daniel Martin‐Jimenez, José Miguel Villacampa‐Aubá, Christian Calvo‐Henríquez, Alfonso Del Cuvillo, Alfonso Santamaría‐Gadea, Jaime González‐García, Richard J. Harvey, John M. DelGaudio   +11 more
wiley   +1 more source

Surgical treatment of nasal septal deviation (septoplasty) in children

Acta chirurgica Iugoslavica, 2011
The aim of this study was to indicate the importance of surgical treatment of nasal septal deviation in children as early correction of functional and cosmetic nose deformities. In this study, we presented 76 children, from age of 7 to 15, who were surgical treated for the reason of nasal septal deviation starting from January 2001.
Ivan Baljosevic, Jovica Milovanovic, Mladen Novkovic, Katarina Stankovic, Zlata Baljosevic   +4 more
openaire   +3 more sources

Volumetric nasal cavity analysis in children with unilateral and bilateral cleft lip and palate [PDF]

, 2015
OBJECTIVES/HYPOTHESIS: Children with cleft lip and palate (CLP) often suffer from nasal obstruction that may be related to effects on nasal volume. The objective of this study was to compare side:side volume ratios and nasal volume in patients with ...
Davis, Stephanie D., Drake, Amelia Fischer, Farzal, Zainab, Kimbell, Julia S., Lopes de Rezende Barbosa, Gabriella, Pimenta, Luiz A., Superfine, Richard, Walsh, Jonathan, Zdanski, Carlton J.   +8 more
core   +1 more source