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Objective: To assess the effectiveness, cost and cost‐effectiveness of four screening strategies for first‐trimester (T1) cytomegalovirus (CMV) primary infection (PI) in pregnant women in France. Methods: In a simulated pregnant population of 800 000 (approximate number of pregnancies each year in France), using costs based on the year 2022, we compared four CMV maternal screening strategies: Strategy S1, no systematic screening (current public health recommendations in France); Strategy S2, screening of 25–50% of the pregnant population (current screening practice in France); Strategy S3, universal screening (current medical recommendations in France); Strategy S4, universal screening (as in Strategy S3) in conjunction with valacyclovir in case of T1 PI. Outcomes were total cost, effectiveness (number of congenital infections, number of diagnosed infections) and incremental cost‐effectiveness ratio (ICER). Two ICERs were calculated, comparing Strategies S1, S2 and S3 in terms of euros (€) per additional diagnosis, and comparing Strategies S1 and S4 in € per avoided congenital infection. Results: Compared with Strategy S1, Strategy S3 enabled diagnosis of 536 more infected fetuses and Strategy S4 prevented 375 congenital infections. Strategy S1 was the least expensive strategy (€98.3m total lifetime cost), followed by Strategy S4 (€98.6m), Strategy S2 (€106.0m) and Strategy S3 (€118.9m). In the first analysis, Strategy S2 was dominated and Strategy S3 led to an additional €38 552 per additional in‐utero diagnosis, compared with Strategy S1. In the second analysis, Strategy S4 led to an additional €893 per avoided congenital infection compared with Strategy S1, and was cost‐saving compared with Strategy S2. Conclusions: In France, current screening practice for CMV PI during pregnancy is no longer acceptable in terms of cost‐effectiveness because this strategy was dominated by universal screening. Moreover, universal screening in conjunction with valacyclovir treatment would be cost‐effective compared with current recommendations and is cost‐saving compared with current practice. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610‐kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay. One of the affected sibs further had myoclonic epilepsy and bilateral sensorineural hearing loss. The carrier mother was apparently asymptomatic. Because EFNB2 is located in the subtelomeric region of 13q chromosome, we reviewed the previous reports of terminal 13q deletion. We suggest that haploinsufficiency of the EFNB2 could be at the origin of several clinical features reported in 13qter deletions, including intellectual disability, seizures, congenital heart defects, anorectal malformation and hearing loss. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives The aim of this research was to describe precisely prenatal ultrasound (US) features in congenital cytomegalovirus (CMV) infection. Methods We retrospectively evaluated the US descriptions of cases of congenital CMV infection between 2004 and 2013. Results In 69 congenital CMV infections, related US abnormalities were reported in 30 cases (43.5%). There were both extracerebral and cerebral abnormalities in 16 cases, purely abnormal brain features in ten, and purely extracerebral features in two. About 19/30 cases presented extracerebral features of 11 different sorts of abnormalities, mainly hyperechogenic bowel (ten cases) and intrauterine growth retardation (nine cases). About 24/30 cases presented cerebral features of 13 different sorts, mainly brain calcifications (12 cases) and occipital horn cavity (11 cases). The main US findings in our series are not specific to CMV infection. However, a frequent finding attracted our attention: the anechogenic cavity located on the extremity of the occipital horn, a region which contains numerous proliferating and differentiating germinal cells. Conclusions By improving knowledge of US findings linked to CMV infection, US sensitivity may be improved. Understanding why CMV leads to lesions of the occipital horn may help clarify the pathophysiology of congenital infection. © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objective: Pediatric inferior turbinate hypertrophy (PedTH) is a frequent and often overlooked cause or associated cause of nasal breathing difficulties. This clinical consensus statement (CCS) aims to provide a diagnosis and management framework covering the lack of specific guidelines for this condition and addressing the existing controversies., Methods: A clinical consensus statement (CCS) was developed by a panel of 20 contributors from 7 different European and North American countries using the modified Delphi method. The aim of the CCS was to offer a multidisciplinary reference framework for the management of PedTH on the basis of shared clinical experience and analysis of the strongest evidence currently available., Results: A systematic literature review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria was performed. From the initial 96 items identified, 7 articles were selected based on higher-evidence items such as randomized-controlled trials, guidelines, and systematic reviews. A 34-statement survey was developed, and after three rounds of voting, 2 items reached strong consensus, 17 reached consensus or near consensus, and 15 had no consensus., Conclusions: Until further prospective data are available, our CCS should provide a useful reference for PedTH management. PedTH should be considered a nasal obstructive disease not necessarily related to an adult condition but frequently associated with other nasal or craniofacial disorders. Diagnosis requires clinical examination and endoscopy, whereas rhinomanometry, nasal cytology, and questionnaires have little clinical role. Treatment choice should consider the specific indications and features of the available options, with a preference for less invasive procedures., Level of Evidence: 5 Laryngoscope, 134:1437-1444, 2024., (© 2023 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.)

Objective/hypothesis: To review the literature on pediatric ENT COVID-19 guidelines worldwide, in particular, surgical practice during the pandemic, and to establish a comprehensive set of recommendations., Study Design: Review., Methods: A comprehensive literature review through an independent electronic search of the COVID-19 pandemic in PubMed, Medline, Google, and Google Scholar was performed on April 26-30, 2020. Resources identified comprised of published papers, national and international pediatric ENT society guidelines., Results: Fourteen guidelines fit the inclusion criteria. Key statements were formulated and graded: 1) Strong recommendation (reported by 9 or more/14); 2) Fair recommendation (7-8/14); 3) Weak recommendation (5-6/14); and 4) Expert opinion (2-4/14). Any single source suggestion was included as a comment. Highly scored recommendations included definition of urgent/emergent cases that required surgery; surgery for acute airway obstruction; prompt diagnosis of suspected cancer; and surgical intervention for sepsis following initial first-line medical management. Other well scored recommendations included senior faculty to perform the surgery; the use of open approaches rather than endoscopic ones; and avoidance of powered instruments that would aerosolize virus-loaded tissue. A tracheostomy should be performed on a case by case basis where key technical modifications become necessary., Conclusions: The COVID-19 pandemic will have a profound short and long-term impact on pediatric ENT practice. During this rapidly evolving climate, guidelines have been based on local practice and expert opinion. Until evidence-based practice in the COVID era is established, a comprehensive set of recommendations for pediatric ENT surgical practice based on a review of currently available literature and guidelines, is therefore, appropriate. Laryngoscope, 131:1876-1883, 2021., (© 2020 The American Laryngological, Rhinological and Otological Society, Inc.)

Objectives/hypothesis: Otolaryngology instructional videos available online are often of poor quality. The objective of this article was to establish international consensus recommendations for the production of educational surgical videos in otolaryngology., Study Design: DELPHI survey., Methods: Twenty-seven international respondents participated in this study from 12 countries. Consensus was reached after three rounds of questionnaires following the Delphi methodology. The proposals having reached the 80% agreement threshold in the third round were retained., Results: The main recommendations are as follows: 1) Ethics: patients must be anonymized and unrecognizable (apart from plastic surgery if necessary). A signed authorization must be obtained if the person is recognizable. 2) Technical aspects: videos should be edited and in high-definition (HD) quality if possible. Narration or subtitles and didactic illustrations are recommended. 3) Case presentation: name of pathology and procedure must be specified; the case should be presented with relevant workup. 4) Surgery: surgical procedures should be divided into several distinct stages and include tips and pitfalls. Pathology should be shown if relevant. Key points should be detailed at the end of the procedure. 5) Organ-specific: type of approach and bilateral audiometry should be specified in otology. Coronal plane computed tomography scans should be shown in endonasal surgery. It is recommended to show pre- and postoperative videos in voice surgery and preoperative drawings and photos of scars in plastic surgery, as well as the ventilation method in airway surgery., Conclusions: International recommendations have been determined to assist in the creation and standardization of educational surgical videos in otolaryngology and head and neck surgery., Level of Evidence: 5 Laryngoscope, 131:E732-E737, 2021., (© 2020 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of American Laryngological, Rhinological and Otological Society Inc, "The Triological Society" and American Laryngological Association (ALA).)