BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the ...BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the intraoperative findings.CASE SUMMARY A 19-year-old male patient presented to our department with a mass behind the right earlobe and recurrent postauricular swelling and pain since childhood,he also had severe hearing loss in the right ear since birth.The patient underwent surgery including mass removal,mastoidectomy,and simultaneous meatoplasty and ossiculoplasty under microscopy.No facial palsy or recurrence was noted during postoperative follow-up.CONCLUSION FBCAs are rare,and to our knowledge,this is the first report of FBCA accompanied by external auditory canal bony atresia,middle ear malformation,and location malformation of the facial nerve.An effective postauricular approach under microscopy facilitated complete lesion removal and simultaneous otologic reconstruction.展开更多
BACKGROUND Treatment of fistulas arising from the third branchial cleft includes endoscopic cauterization or open cervical fistulectomy.Both approaches are associated with recurrence rates of 14%-18%,and possibly grea...BACKGROUND Treatment of fistulas arising from the third branchial cleft includes endoscopic cauterization or open cervical fistulectomy.Both approaches are associated with recurrence rates of 14%-18%,and possibly greater rates when the fistula has been treated operatively beforehand.Treatment of fistulas arising from the third branchial cleft is associated with an inordinate recurrence rate.Recurrence may be multifactorial and related to incomplete resection of all of the anatomical elements of the fistula.AIM To present a new approach that involves complete resection of the recurrent fistula by a combined therapeutic approach.METHODS Here,12 adult patients diagnosed with recurrent third branchial cleft fistulas underwent a combined therapy assisted by flexible fiber-optic pharyngoscopy to identify and resect the entry site of the fistula into the pyriform sinus.The fistulous opening into the pyriform sinus was identified by flexible fiber-optic pharyngoscopy.The application of intubation with a guidewire by pharyngoscopy,in addition to the removal of the partial excision of the thyroid cartilage,allowed complete resection of the opening and all parts of the fistula tract.RESULTS All of the internal openings of the fistulas in the pharynx were found and easily identified by flexible fiber-optic pharyngoscopy.All of the 12 patients underwent complete resection of the recurrent fistula by the combined therapeutic approach.There were no postoperative complications such as parapharyngeal abscess or wound infection,injury or dysfunction of the recurrent laryngeal or superior laryngeal nerves.The pharyngeal edema had degraded,and the pharyngeal wound healed postoperatively within 1 wk.Laryngeal endoscopy and voice analysis were performed on the 14th d post-operatively.Vocal cord movements did not change.The characters of voice for jitter,shimmer,and normalized noise energy were all within normal limits.In addition,no recurrences were observed during the 13-60 mo follow-up period.CONCLUSION It can be concluded that the proposed combined therapy is associated with excellent results,minimal morbidity,and no recurrence.展开更多
Objective: Report a rare case of a thyroid papillary carcinoma situated within a branchial cleft cyst. Case presentation: A 40-year-old male was referred to our department for a lateral neck mass assessment. Physical ...Objective: Report a rare case of a thyroid papillary carcinoma situated within a branchial cleft cyst. Case presentation: A 40-year-old male was referred to our department for a lateral neck mass assessment. Physical examination revealed a solitary palpable, painless, moveable neck mass. Assessment included complete nasal, pharynx and larynx endoscopy, neck computed tomography, and fine needle aspiration biopsy. Treatment was surgical excision of the neck mass. Histopathology confirmed a branchial cleft cyst with papillary thyroid carcinoma growth at a site. A neck and thyroid ultrasound showed presence of thyroid gland nodules (one of which with micro calcifications). Thyroid fine needle aspiration biopsy performed, was high suspicious for malignancy (BETHESDA V). Patient underwent total thyroidectomy and histopathology revealed papillary thyroid carcinoma. Conclusion: Although rarely, it is possible to face an unexpected malignancy within a clinically benign neck lesion. A thorough diagnostic work-up enables early identification of aforementioned potential malignancy. A diagnostic dilemma that arises in such cases is between primary or metastatic disease and a thyroid carcinoma arising from ectopic thyroid tissue.展开更多
Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level...Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis.展开更多
文摘BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the intraoperative findings.CASE SUMMARY A 19-year-old male patient presented to our department with a mass behind the right earlobe and recurrent postauricular swelling and pain since childhood,he also had severe hearing loss in the right ear since birth.The patient underwent surgery including mass removal,mastoidectomy,and simultaneous meatoplasty and ossiculoplasty under microscopy.No facial palsy or recurrence was noted during postoperative follow-up.CONCLUSION FBCAs are rare,and to our knowledge,this is the first report of FBCA accompanied by external auditory canal bony atresia,middle ear malformation,and location malformation of the facial nerve.An effective postauricular approach under microscopy facilitated complete lesion removal and simultaneous otologic reconstruction.
文摘BACKGROUND Treatment of fistulas arising from the third branchial cleft includes endoscopic cauterization or open cervical fistulectomy.Both approaches are associated with recurrence rates of 14%-18%,and possibly greater rates when the fistula has been treated operatively beforehand.Treatment of fistulas arising from the third branchial cleft is associated with an inordinate recurrence rate.Recurrence may be multifactorial and related to incomplete resection of all of the anatomical elements of the fistula.AIM To present a new approach that involves complete resection of the recurrent fistula by a combined therapeutic approach.METHODS Here,12 adult patients diagnosed with recurrent third branchial cleft fistulas underwent a combined therapy assisted by flexible fiber-optic pharyngoscopy to identify and resect the entry site of the fistula into the pyriform sinus.The fistulous opening into the pyriform sinus was identified by flexible fiber-optic pharyngoscopy.The application of intubation with a guidewire by pharyngoscopy,in addition to the removal of the partial excision of the thyroid cartilage,allowed complete resection of the opening and all parts of the fistula tract.RESULTS All of the internal openings of the fistulas in the pharynx were found and easily identified by flexible fiber-optic pharyngoscopy.All of the 12 patients underwent complete resection of the recurrent fistula by the combined therapeutic approach.There were no postoperative complications such as parapharyngeal abscess or wound infection,injury or dysfunction of the recurrent laryngeal or superior laryngeal nerves.The pharyngeal edema had degraded,and the pharyngeal wound healed postoperatively within 1 wk.Laryngeal endoscopy and voice analysis were performed on the 14th d post-operatively.Vocal cord movements did not change.The characters of voice for jitter,shimmer,and normalized noise energy were all within normal limits.In addition,no recurrences were observed during the 13-60 mo follow-up period.CONCLUSION It can be concluded that the proposed combined therapy is associated with excellent results,minimal morbidity,and no recurrence.
文摘Objective: Report a rare case of a thyroid papillary carcinoma situated within a branchial cleft cyst. Case presentation: A 40-year-old male was referred to our department for a lateral neck mass assessment. Physical examination revealed a solitary palpable, painless, moveable neck mass. Assessment included complete nasal, pharynx and larynx endoscopy, neck computed tomography, and fine needle aspiration biopsy. Treatment was surgical excision of the neck mass. Histopathology confirmed a branchial cleft cyst with papillary thyroid carcinoma growth at a site. A neck and thyroid ultrasound showed presence of thyroid gland nodules (one of which with micro calcifications). Thyroid fine needle aspiration biopsy performed, was high suspicious for malignancy (BETHESDA V). Patient underwent total thyroidectomy and histopathology revealed papillary thyroid carcinoma. Conclusion: Although rarely, it is possible to face an unexpected malignancy within a clinically benign neck lesion. A thorough diagnostic work-up enables early identification of aforementioned potential malignancy. A diagnostic dilemma that arises in such cases is between primary or metastatic disease and a thyroid carcinoma arising from ectopic thyroid tissue.
基金Beijing Natural Science Foundation Program and Scientific Research Key Program of Beijing Municipal Commission of Education(KZ201810025034)Fund of Beijing Excellent Talent Training(2017000021469G252)+1 种基金Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals(XTCX201806)Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University & Capital Medical University, Beijing(BHME- 201804)
文摘Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis.
