Results 51 to 60 of about 113,105 (335)

Impact of Circular Stapler Size on Short‐Term Outcomes and Long‐Term Quality of Life After McKeown Esophagectomy

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
In this study, we investigated the impact of circular stapler size on both short‐term outcomes and long‐term QOL after McKeown esophagectomy. We revealed that short‐term outcomes, including anastomotic leakage and stenosis, did not differ between patients who underwent anastomosis with a 21 mm stapler and those with a 23 mm stapler.
Suguru Maruyama   +9 more
wiley   +1 more source

Gastroesophageal Reflux Characteristics and Patterns in Patients with Idiopathic Subglottic Stenosis

open access: yesGastroenterology Research and Practice, 2018
Introduction. Idiopathic subglottic stenosis represents a spectrum of subglottic disease without a clear underlying cause. Prior studies have implicated a pathogenic role of gastroesophageal reflux disease in idiopathic subglottic stenosis.
Hongfei Fang   +5 more
doaj   +1 more source

Gastroesophageal reflux disease in children including palliative pediatric patients

open access: yesЛечащий Врач, 2023
Gastroesophageal reflux disease is a retrograde throwing of stomach contents (hydrochloric acid, digestive enzymes and sometimes bile) into the esophagus, which leads to the appearance of symptoms.
Yu. Yu. Razuvaeva   +5 more
doaj   +1 more source

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Posterior cricoid region fluoroscopic findings: the posterior cricoid plication. [PDF]

open access: yes, 2010
The region posterior to the cricoid cartilage is challenging to assess fluoroscopically. The purpose of this investigation is to critically evaluate the posterior cricoid (PC) region on fluoroscopy and describe patterns of common findings.
AR Gordon   +14 more
core   +3 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

Assessment of a method to detect signals for updating systematic reviews. [PDF]

open access: yes, 2014
BackgroundSystematic reviews are a cornerstone of evidence-based medicine but are useful only if up-to-date. Methods for detecting signals of when a systematic review needs updating have face validity, but no proposed method has had an assessment of ...
Johnsen, Breanne   +3 more
core   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett   +4 more
wiley   +1 more source

Impaired Esophageal Motility and Clearance Post-Lung Transplant: Risk For Chronic Allograft Failure [PDF]

open access: yes, 2017
Objectives: Gastroesophageal reflux is common in patients post-lung transplantation (LTx) and thus considered a risk factor for aspiration and consequently allograft rejection and the development of chronic allograft failure. However, evidence supporting
Almansa   +30 more
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

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