Zobrazení zdroje stránky Weissmalmberg3455

To provide recommendations to otolaryngologists, pulmonologists, and allied clinicians for tracheostomy decannulation in pediatric patients.<br /><br /> An iterative questionnaire was used to establish expert recommendations by the members of the International Pediatric Otolaryngology Group.<br /><br /> Twenty-six members completed the survey. [https://www.selleckchem.com/products/myk-461.html MYK-461] Recommendations address patient criteria for decannulation readiness, airway evaluation prior to decannulation, decannulation protocol, and follow-up after both successful and failed decannulation.<br /><br /> Tracheostomy decannulation recommendations are aimed at improving patient-centered care, quality and safety in children with tracheostomies.<br /><br />Tracheostomy decannulation recommendations are aimed at improving patient-centered care, quality and safety in children with tracheostomies.<br /><br /> The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.<br /><br /> Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples. A 4000 pathgenic genes diagnostic screening panel developed by our laboratory group was used for gene mutation screening. The panel covered the TCOF1 (NM_001135243.1), POLR1C (NM_203,290) and POLR1D (NM_015,972) genes associating with TCS.<br /><br /> We reported a case of typical, complete syndrome with a nonsense mutation c.1622G&gt;A (p.W541*) in exon 11 of TCOF1, who presents bilateral external ears abnormalities, atresia of external auditory canals, antimongoloid slant of the eyes, bilateral partial coloboma of the lateral part of the lower lids, a large and protruding nose, macrostomia, cleft palate and hair displacement anterior to the auricle.<br /><br /> Our report expands the spectrum of known pathogenic TCOF1 variants associated with TCS in humans.TCOF1 deficiency may cause a severe neonatal presentation with birth defects.<br /><br />Our report expands the spectrum of known pathogenic TCOF1 variants associated with TCS in humans.TCOF1 deficiency may cause a severe neonatal presentation with birth defects.Enlarged vestibular aqueduct (EVA) is a common finding in tomodensitometry. When cranial MRI is performed, enlarged endolymphatic sac (EES) can also be found. Profound hearing loss is a common finding in these patients but a few studies have investigated vestibular function after cochlear implantation (CI) in EVA and EES patients. Our main objective was to find out whether in EVA children candidates to CI, a higher endolymphatic sac (ES) volume was predictive for higher rates of postsurgical vestibular complications.<br /><br /> We retrospectively included EVA children who benefited from CI, during the last 2 years. Two groups were constituted according to the presence or not of a vestibular impairment (decrease in the VOR gain on the VHIT test on one of the semicircular canals and/or a loss of cVEMPs) 6 months after CI. Endolymphatic volume of both VA and ES was measured for each patient.<br /><br /> Fifteen patients were included. The mean endolymph volume was significantly higher in the impaired group (0.40 cm<br /><br /> ±0.23, range 0.08-0.70) than in the non-impaired group (0.11 cm<br /><br /> ±0.07, range 0.04-0.29; p=0.029). Four children of the impaired group were followed during one year. At the end of vestibular rehabilitation, all children recovered a lateral canal function and a saccular function.<br /><br /> In EVA children, a combined EES appears to increase the risk of severe post CI vestibular impairment. To minimize this risk prior CI surgery, besides tomodensitometry, MRI measurement of the ES volume should be systematically performed.<br /><br />In EVA children, a combined EES appears to increase the risk of severe post CI vestibular impairment. To minimize this risk prior CI surgery, besides tomodensitometry, MRI measurement of the ES volume should be systematically performed.Since January 2012, babies born in the province of Modena, Italy, have routinely undergone hearing testing as part of a two-stage screening programme. Newborn hearing screening (NHS) has been based on an integrated hospital and community care system and this study aims to assess screening coverage, referral rates, the prevalence, type and extent of hearing loss several years into the programme. Data were collected from January 1, 2012 to December 31, 2015. Coverage was over 99% in all five facilities of the province. The ratio of "fails of the screening" to the total number of infants tested varied over the period from 1.2% to 0.9% in the third level facility, and from 0.8% to 0.4% in the other four. Although hearing loss was mainly associated with dysmorphic\syndromic diseases or a family history of hearing loss, some 23% of cases were identified with no known risk factors. We highlight the importance of the NHSP and the need for strong support from healthcare administrators to ensure high coverage. This is especially true since although the prevalence of hearing loss was higher among infants with audiological risk factors, several cases of hearing loss were found in newborns with no known risk factors.<br /><br /> Parental suspicion of hearing impairment in their children is generally inaccurate. Parents tend to underestimate hearing problems in their children. The aim of the study was to assess the accuracy of parental suspicion of hearing loss in their children.<br /><br /> This was a population-based, epidemiological study conducted in elementary schools in villages and small towns in Poland. The study sample was 64,750 children aged 6-13 years old. The children underwent hearing screening with pure-tone audiometry. The parents answered a question about hearing problems in their children. The outcome parameters were sensitivity, specificity, and predictive value of parental perception of hearing problems in their children. Parental suspicion of hearing problems was assessed by a questionnaire. Pure-tone air-conduction hearing thresholds were obtained from 0.5 to 8kHz. Hearing loss was defined as a pure-tone average higher than 20dB in one or both ears in at least one of the three following pure-tone averages four-frequency pure-tone average, high-frequency pure-tone average, and low-frequency pure-tone average.<br /><br /> Positive results of hearing screening were obtained in 16.3% of children. Hearing loss was detected in 6025 children (9.3%), of whom 1074 (17.8%) were correctly perceived by parents as having hearing problems. The degree of hearing loss was a significant factor which influenced the sensitivity of parental suspicion of HL in their children. Sensitivity of detecting hearing loss by parents reached about 20% for mild hearing loss and above 31% for moderate or worse hearing loss.<br /><br /> Parents underestimate hearing problems in their children, but they are more able to accurately detect hearing loss if it involves speech-related frequencies and is at least a moderate hearing loss or bilateral loss.<br /><br />Parents underestimate hearing problems in their children, but they are more able to accurately detect hearing loss if it involves speech-related frequencies and is at least a moderate hearing loss or bilateral loss.