Branchial arch anomalies can arise from the four first branchial arches, but the most encountered cases are from the second one. Second branchial arch cysts and abscesses occur mainly in older children or young adults...Branchial arch anomalies can arise from the four first branchial arches, but the most encountered cases are from the second one. Second branchial arch cysts and abscesses occur mainly in older children or young adults while fistulae are discovered in young children. We report a case of complete second branchial arch fistula of Bailey III type with adult complaints of painful swelling and local reddishness followed by spontaneous discharge and disappearance of complaints. Diagnosis was based on ultrasound and confirmed by CT scan, with the classic “beak sign” visible on both exams. Three cases were encountered in the family, with no otologic or kidney symptoms, which is quite different from the classical branchiootorenal syndrome which associates severe inner ear and kidney congenital anomalies.展开更多
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
The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases t...The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases to be multifactorial,involving both genetic and enviromental factors.Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch.The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM.Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs),which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues.Furthermore,Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice.So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage,or migrating to an incorrect position and can't differentiate into normal tissues.What an exact role of Dlx2 over-expression in FBAM remains to be investigated and Dlx2 over-expression transgenic mouse will be a nice model for further research in FBAM.展开更多
Objectives:Traditional resection of second branchial cleft fistulas(SBCFs)involves a transcervical incision in the neck,which leaves a prominent scar;therefore,endoscope-assisted excision of SBCFs through the anterior...Objectives:Traditional resection of second branchial cleft fistulas(SBCFs)involves a transcervical incision in the neck,which leaves a prominent scar;therefore,endoscope-assisted excision of SBCFs through the anterior chest approach has been proposed.To introduce endoscope-assisted excision of SBCFs via the anterior chest approach and to evaluate its feasibility,validity,safety,and clinical results.Methods:This was a study of four patients with SBCFs who underwent surgical resection with the assistance of endoscopy via the anterior chest approach between May 2012 and May 2018.Results:All procedures were successfully performed with endoscope-assisted surgery via the anterior chest approach.The volume of blood loss ranged from 5 to 10 mL(median 6 ml).The operating time ranged from 45 to 67 min(median 50 min).No patients presented evidence of long-term complications or recurrence during the median follow-up period of 72-144 months(median 99 months).All patients were satisfied with the cosmetic outcomes.Conclusions:Endoscope-assisted resection of SBCFs via the anterior chest approach is feasible,effective,and safe and has better esthetic effects.Therefore,SBCF surgery via the anterior chest approach could be a novel and superior treatment option for patients with SBCFs.展开更多
Importance:First branchial cleft anomaly (FBCA) is a rare disease that is difficult to diagnose and is associated with a high rate of complications.However,the difference between two types of FBCA and how to avoid com...Importance:First branchial cleft anomaly (FBCA) is a rare disease that is difficult to diagnose and is associated with a high rate of complications.However,the difference between two types of FBCA and how to avoid complications are not clear enough.Objective:We retrospectively analyzed type Ⅰ and Ⅱ (Work's classification) FBCAs in children to demonstrate the difference between the two types of FBCAs,especially with respect to understanding the relationship between FBCAs and the facial nerve.Methods:We retrospectively reviewed patients with FBCAs who were treated in Beijing Children's Hospital from 2013 to 2017.The patients' clinical data,relationship of the FBCA with the facial nerve,and postoperative complications were recorded.Results:The study included 70 patients with FBCAs.In total,41 (58.6%) patients had a type Ⅰ FBCA,and 29 (41.1%) had a type ⅡFBCA.A cystic mass was present in 34 (48.6%) patients.Sixty-two (88.6%) patients had a history of incision and drainage and nine (12.8%) had a history of excision surgery in other hospitals.The accuracy rate of magnetic resonance imaging was higher than ultrasound and much higher than computed tomography.Thirtyeight (92.7%) type Ⅰ FBCAs had no close relationship with the facial nerve.The facial nerve in 14 (48.3%) patients with type Ⅱ FBCAs was located superficial to and above the mass.Fifteen (51.7%)type Ⅱ facial nerves were located on the deep side of the mass.All patients in the study had an abnormal external auditory canal (EAC).Three patients had temporary facial palsy that resolved within one week.Eleven patients with type Ⅰ FBCAs had mild EAC stenosis.No recurrence was observed.Interpretation:Type Ⅱ FBCAs had a close relationship with the facial nerve,especially when the lesion was located in the mandible angle.All patients with FBCAs had an EAC abnormality.The abnormal skin and cartilage of the EAC should be excised together to avoid recurrence.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Branchial arch anomalies can arise from the four first branchial arches, but the most encountered cases are from the second one. Second branchial arch cysts and abscesses occur mainly in older children or young adults while fistulae are discovered in young children. We report a case of complete second branchial arch fistula of Bailey III type with adult complaints of painful swelling and local reddishness followed by spontaneous discharge and disappearance of complaints. Diagnosis was based on ultrasound and confirmed by CT scan, with the classic “beak sign” visible on both exams. Three cases were encountered in the family, with no otologic or kidney symptoms, which is quite different from the classical branchiootorenal syndrome which associates severe inner ear and kidney congenital anomalies.
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.
文摘The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases to be multifactorial,involving both genetic and enviromental factors.Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch.The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM.Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs),which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues.Furthermore,Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice.So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage,or migrating to an incorrect position and can't differentiate into normal tissues.What an exact role of Dlx2 over-expression in FBAM remains to be investigated and Dlx2 over-expression transgenic mouse will be a nice model for further research in FBAM.
文摘Objectives:Traditional resection of second branchial cleft fistulas(SBCFs)involves a transcervical incision in the neck,which leaves a prominent scar;therefore,endoscope-assisted excision of SBCFs through the anterior chest approach has been proposed.To introduce endoscope-assisted excision of SBCFs via the anterior chest approach and to evaluate its feasibility,validity,safety,and clinical results.Methods:This was a study of four patients with SBCFs who underwent surgical resection with the assistance of endoscopy via the anterior chest approach between May 2012 and May 2018.Results:All procedures were successfully performed with endoscope-assisted surgery via the anterior chest approach.The volume of blood loss ranged from 5 to 10 mL(median 6 ml).The operating time ranged from 45 to 67 min(median 50 min).No patients presented evidence of long-term complications or recurrence during the median follow-up period of 72-144 months(median 99 months).All patients were satisfied with the cosmetic outcomes.Conclusions:Endoscope-assisted resection of SBCFs via the anterior chest approach is feasible,effective,and safe and has better esthetic effects.Therefore,SBCF surgery via the anterior chest approach could be a novel and superior treatment option for patients with SBCFs.
文摘Importance:First branchial cleft anomaly (FBCA) is a rare disease that is difficult to diagnose and is associated with a high rate of complications.However,the difference between two types of FBCA and how to avoid complications are not clear enough.Objective:We retrospectively analyzed type Ⅰ and Ⅱ (Work's classification) FBCAs in children to demonstrate the difference between the two types of FBCAs,especially with respect to understanding the relationship between FBCAs and the facial nerve.Methods:We retrospectively reviewed patients with FBCAs who were treated in Beijing Children's Hospital from 2013 to 2017.The patients' clinical data,relationship of the FBCA with the facial nerve,and postoperative complications were recorded.Results:The study included 70 patients with FBCAs.In total,41 (58.6%) patients had a type Ⅰ FBCA,and 29 (41.1%) had a type ⅡFBCA.A cystic mass was present in 34 (48.6%) patients.Sixty-two (88.6%) patients had a history of incision and drainage and nine (12.8%) had a history of excision surgery in other hospitals.The accuracy rate of magnetic resonance imaging was higher than ultrasound and much higher than computed tomography.Thirtyeight (92.7%) type Ⅰ FBCAs had no close relationship with the facial nerve.The facial nerve in 14 (48.3%) patients with type Ⅱ FBCAs was located superficial to and above the mass.Fifteen (51.7%)type Ⅱ facial nerves were located on the deep side of the mass.All patients in the study had an abnormal external auditory canal (EAC).Three patients had temporary facial palsy that resolved within one week.Eleven patients with type Ⅰ FBCAs had mild EAC stenosis.No recurrence was observed.Interpretation:Type Ⅱ FBCAs had a close relationship with the facial nerve,especially when the lesion was located in the mandible angle.All patients with FBCAs had an EAC abnormality.The abnormal skin and cartilage of the EAC should be excised together to avoid recurrence.
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.
