Since the discovery of the first human deafness gene a quarter of a century ago, our approach to clinical evaluation of children with hearing loss has changed dramatically. What was once a low-yield ...scattershot approach has changed to a clearly definable pathway involving genetic testing, imaging, and congenital cytomegalovirus testing. There still however is a great deal of work to be done to expand the correct use of this testing, particularly genetic testing.
Objective
The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical ...characteristics and procedures required for these patients at our institution.
Methods
We performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021.
Results
Of the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three‐quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate.
Conclusions
Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology.
Level of Evidence
4 Laryngoscope, 133:1501–1506, 2023
The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We reviewed all patients diagnosed with trisomy 13 and trisomy 18 and evaluated by the Otolaryngology service at our institution. We identified the most common diagnoses and procedures performed by our specialty.
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, ...the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of HL. As one of its major tasks, our Expert Panel has adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants in HL genes. Here, we provide a comprehensive illustration of the newly specified ACMG/AMP HL rules. Three rules remained unchanged, four rules were removed, and the remaining 21 rules were specified. These rules were further validated and refined using a pilot set of 51 variants assessed by curators and disease experts. Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or aggregation of evidence across laboratories. These HL‐specific ACMG/AMP rules will help standardize variant interpretation, ultimately leading to better care for individuals with HL.
The Hearing Loss Variant Curation Expert panel was created within ClinGen with the goals of standardizing variant interpretation in hearing loss, resolving existing discrepancies in submitted variant classifications in ClinVar and providing expert variant classifications for hearing loss. Here we present specifications of the ACMG/AMP variant interpretation guidelines for hearing loss and the results of a pilot project in which these specifications were applied to 51 variants in the CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, and USH2A genes.
Acquired Hearing Loss in Children Kenna, Margaret A
Otolaryngologic clinics of North America,
12/2015, Letnik:
48, Številka:
6
Journal Article
Recenzirano
Hearing loss is the most common congenital sensory impairment. According to National Health and Nutrition Examination Survey data from 2001 to 2008, 20.3% of subjects aged greater than or equal to 12 ...had unilateral or bilateral hearing loss. The World Health Organization notes that, worldwide, there are 360 million people with disabling hearing loss, with 50% preventable. Although many hearing losses are acquired, many others are manifestations of preexisting conditions. The purpose of a pediatric hearing evaluation is to identify the degree and type of hearing loss and etiology and to outline a comprehensive strategy that supports language and social development and communication.
Acute otitis media is the second most common reason for a child to visit his or her primary care physician and the most common reason for prescribing an antibiotic agent to a child.
1
Over the past ...40 years, substantial progress has been made in understanding the epidemiology, bacteriology, risk factors, and natural history of acute otitis media.
2
The introduction of pneumococcal vaccines, the 7-valent vaccine (PCV7) in 2000 and the 13-valent vaccine (PCV13) in 2010, has resulted in a decrease in the incidence of acute otitis media attributable to the pneumococcal vaccine serotypes.
3
Despite this decrease, acute otitis media remains . . .
To examine the long-term trend of otitis media (OM)-associated ambulatory visits from 1997 to 2014 and to evaluate the impact of 7-valent and 13-valent pneumococcal conjugate vaccines (PCV7 and ...PCV13) on OM ambulatory visits.
We examined OM-associated ambulatory visits in children, using the National Ambulatory Medical Care Survey and National Hospital Ambulatory Medical Care Survey.
A total of 24 148 OM-related visits were identified from 363 240 ambulatory visits. OM visits accounted for 9.5% of all ambulatory visits in 1997-1999, 7.1% in 2002-2009, and 5.5% in 2012-2014. Between the pre-PCV7 and the post-PCV13 period, annual physician's office visits for OM declined from 826 to 387 visits per 1000 children among children younger than 2 years of age. Compared with the pre-PCV7 period, office visit rates for OM significantly declined by 51% (95% CI 42%-58%) among children younger than 2 years of age and by 37% (95% CI 23%-48%) among children 2-4 years of age during the post-PCV13 period. Among children younger than 2 years of age, emergency department visits for OM declined by 47% (95% CI 36%-55%) during the post-PCV13 period, and hospital outpatient visits declined by 30% (95% CI 8%-48%) during the PCV13-transition period. OM-related visits declined across sex, race/ethnicity, health insurance status, and geographic region.
Our nationwide study shows that ambulatory visits for OM have declined following the introduction of PCV7 and PCV13. Future research on the evolving microbiology of OM and continued monitoring of the epidemiology of pneumococcal disease are needed.
Objectives/Hypothesis
To determine the incidence of cochlear implant failure and to examine surgical and audiological outcomes.
Study Design
Retrospective review, case series.
Methods
This study ...sought indications for revision surgery, surgical findings, and outcomes, and audiological outcomes in pediatric cochlear implant patients. Pre‐ and postcochlear reimplantation word recognition performance was analyzed using a modified version of the Pediatric Ranked Order Speech Perception (PROSPER) score.
Results
Over a 20‐year period, a total of 868 cochlear implants were performed in 578 patients. The overall institutional reimplant rate was 5.9%. The indications for explantation were hard failure (30), soft failure (23), and medical/surgical indication (13). A significant portion of devices belonged to vendor recalled batches (15) or were damaged by head trauma (eight). Full electrode insertion was achieved in all 62 reimplantations. Post‐reimplantation Boston Children's Hospital modified PROSER scores were either stable or improved compared to pre‐reimplantation scores.
Conclusions
The need for cochlear implant revision/reimplantation is infrequent, but the rate is not inconsequential. Hard and soft device failures account for the majority of reimplants. Surgical complications during reimplantation is low, and post‐reimplantation audiological performance is excellent.
Level of Evidence
4. Laryngoscope, 2619–2624, 2018
Abstract Objective To provide recommendations for the workup of hearing loss in the pediatric patient. Methods Expert opinion by the members of the International Pediatric Otolaryngology Group. ...Results Consensus recommendations include initial screening and diagnosis as well as the workup of sensorineural, conductive and mixed hearing loss in children. The consensus statement discusses the role of genetic testing and imaging and provides algorithms to guide the workup of children with hearing loss. Conclusion The workup of children with hearing loss can be guided by the recommendations provided herein.
The bacteriophage population is vast, dynamic, old, and genetically diverse. The genomics of phages that infect bacterial hosts in the phylum Actinobacteria show them to not only be diverse but also ...pervasively mosaic, and replete with genes of unknown function. To further explore this broad group of bacteriophages, we describe here the isolation and genomic characterization of 116 phages that infect Microbacterium spp. Most of the phages are lytic, and can be grouped into twelve clusters according to their overall relatedness; seven of the phages are singletons with no close relatives. Genome sizes vary from 17.3 kbp to 97.7 kbp, and their G+C% content ranges from 51.4% to 71.4%, compared to ~67% for their Microbacterium hosts. The phages were isolated on five different Microbacterium species, but typically do not efficiently infect strains beyond the one on which they were isolated. These Microbacterium phages contain many novel features, including very large viral genes (13.5 kbp) and unusual fusions of structural proteins, including a fusion of VIP2 toxin and a MuF-like protein into a single gene. These phages and their genetic components such as integration systems, recombineering tools, and phage-mediated delivery systems, will be useful resources for advancing Microbacterium genetics.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
PDF
