Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).Wit...Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).展开更多
Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement...Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.展开更多
Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data i...Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data in this review were mainly from Medline and PubMed articles published in English from 1990 to 2013.The search term was ＂Marfan＇s syndrome and sleep apnea＂.Study selection Clinical evidence about the epidemiology of obstructive sleep apnea in patients with Marfan＇s syndrome; the mechanism that causes obstructive sleep apnea; interventional therapy for patients with Marfan＇s syndrome,and coexisting obstructive sleep apnea.Results A high prevalence of obstructive sleep apnea exists in patients with Marfan＇s syndrome.The potential reasons are craniofacial abnormalities and lax upper airway muscles,which lead to high nasal airway resistance and upper airway collapse.Obstructive sleep apnea mechanically deteriorates aortic dilatation and accelerates progression of aortic aneurysms.The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan＇s syndrome.Conclusions Obstructive sleep apnea is strongly associated with Marfan＇s syndrome.Craniofacial abnormalities and lax upper airway are the main mechanisms.Untreated obstructive sleep apnea accelerates progression of aortic dissection and rupture.Effective therapies for obstructive sleep apnea could postpone the aortic dilatation in patients with Marfan＇s syndrome.展开更多
基金support in this study.This work was supported by the National Natural Science Foundation of China(82271889,82172105)the National Key Research and Development Program of China(2021YFC2701000)Shanghai Natural Science Foundation(23ZR1409400,24ZR1409400).
文摘Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).
文摘Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.
基金This work was supported by grants from the National Natural Science Foundation of China （No. 81270926 to He Jinhan）, and Outstanding Scholar Foundation of Sichuan University （No. 2013SCU04A17 to He Jinhan）, and Cadres Health Care Committee Foundation of Health Department, Sichuan Province （No. GB2013101 to Mo Li）.
文摘Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data in this review were mainly from Medline and PubMed articles published in English from 1990 to 2013.The search term was ＂Marfan＇s syndrome and sleep apnea＂.Study selection Clinical evidence about the epidemiology of obstructive sleep apnea in patients with Marfan＇s syndrome; the mechanism that causes obstructive sleep apnea; interventional therapy for patients with Marfan＇s syndrome,and coexisting obstructive sleep apnea.Results A high prevalence of obstructive sleep apnea exists in patients with Marfan＇s syndrome.The potential reasons are craniofacial abnormalities and lax upper airway muscles,which lead to high nasal airway resistance and upper airway collapse.Obstructive sleep apnea mechanically deteriorates aortic dilatation and accelerates progression of aortic aneurysms.The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan＇s syndrome.Conclusions Obstructive sleep apnea is strongly associated with Marfan＇s syndrome.Craniofacial abnormalities and lax upper airway are the main mechanisms.Untreated obstructive sleep apnea accelerates progression of aortic dissection and rupture.Effective therapies for obstructive sleep apnea could postpone the aortic dilatation in patients with Marfan＇s syndrome.
