The Experts below are selected from a list of 183 Experts worldwide ranked by ideXlab platform

Liliana Colletti - One of the best experts on this subject based on the ideXlab platform.

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives:Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA).Methods:External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR).Results:Significant improvements were observed in pure-tone threshold and speech perce...

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives: Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA). Methods: External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR). Results: Significant improvements were observed in pure-tone threshold and speech perception immediately after surgery and at follow-up intervals (12 to 60 months) in older children (P

Richard J.h. Smith - One of the best experts on this subject based on the ideXlab platform.

  • split hand split foot Malformation associated with sensorineural deafness inner and Middle Ear Malformation hypodontia congenital vertical talus and deletion of eight microsatellite markers in 7q21 1 q21 3
    Journal of Medical Genetics, 2001
    Co-Authors: E Haberlandt, Judith Loffler, Almut Hirststadlmann, Bernd Stockl, Peter Heinzerian, Werner Judmaier, Gerd Utermann, H. Fischer, Thomas Muller, Richard J.h. Smith
    Abstract:

    Editor—The split hand/split foot Malformation (SHFM, MIM 183600) is a central reduction defect of the hands and feet and occurs both as an isolated Malformation and as part of several syndromes including the EEC syndrome (MIM 129900). We report on a 2 yEar old boy with SHFM associated with features of ectodermal hypoplasia, a submucous cleft palate, congenital vertical talus, Malformations of the Middle Ear, profound sensorineural hEaring loss resulting from Mondini dysplasia, and a de novo deletion of the paternal chromosome 7q21.1-q21.3. This patient with syndromic SHFM represents a case of atypical EEC syndrome, but also displays abnormalities previously not associated with SHFM or EEC syndrome. The classical features of the autosomal dominant inherited EEC syndrome are ectrodactyly, ectodermal dysplasia, and clefting of the lip/palate. In most patients, there are additional anomalies typically affecting the urogenital and lacrimal systems.1 2 Some patients also have dysmorphic facies, a tendency to infectious disease, endocrine disorders, and mental retardation. This phenotypic variability has become increasingly apparent over the last 15 yEars3 4 and numerous related and overlapping syndromes have been delineated by many investigators.5 In an attempt to clarify classification, major and minor criteria for the diagnosis of EEC syndrome have been elaborated.3 4 Dominant inheritance of EEC has been documented in several large multigenerational families.6 At least 15 patients have been reported to have cytogenetic abnormalities of chromosome 7q21.2-7q22.1, including nine patients with interstitial deletions.7-9 In addition, mutations in the gene encoding the transactivation factor p63 on chromosome 3q27 have been identified in familial and sporadic cases of EEC syndrome.10 A third locus was mapped to chromosome 19q,11 further delineating the genetic heterogeneity of this syndrome. The reason for the phenotypic heterogeneity in EEC syndrome patients with 7q abnormalities is unclEar …

Vittorio Colletti - One of the best experts on this subject based on the ideXlab platform.

  • CochlEar implantation through the Middle fossa approach
    The Polish otolaryngology, 2020
    Co-Authors: Witold Szyfter, Vittorio Colletti, Pruszewicz A, Tomasz Kopeć, Szymiec E, Marcin Kawczyński, Karlik M
    Abstract:

    : The inner part of cochlEar implant is inserted into inner Ear during surgery through mastoid and Middle Ear. It is a classical method, used in the majority cochlEar centers in the world. This is not a suitable method in case of chronic otitis media and Middle Ear Malformation. In these cases Colletti proposed the Middle fossa approach and cochlEar implant insertion omitting Middle Ear structures. In patient with bilateral chronic otitis media underwent a few Ears operations without obtaining dry postoperative cavity. CochlEar implantation through the Middle fossa approach was performed in this patient. The bone fenster was cut, temporal lobe was bent and petrosus pyramid upper surface was exposed. When the superficial petrosal greater nerve, facial nerve and arcuate eminence were localised, the cochlEar was open in the basal turn and electrode were inserted. The patient achieves good results in the postoperative speech rehabilitation. It confirmed Colletti tesis that deeper electrode insertion in the cochlEar implantation through the Middle fossa approach enable use of low and Middle frequencies, which are very important in speech understanding.

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives:Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA).Methods:External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR).Results:Significant improvements were observed in pure-tone threshold and speech perce...

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives: Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA). Methods: External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR). Results: Significant improvements were observed in pure-tone threshold and speech perception immediately after surgery and at follow-up intervals (12 to 60 months) in older children (P

E Haberlandt - One of the best experts on this subject based on the ideXlab platform.

  • split hand split foot Malformation associated with sensorineural deafness inner and Middle Ear Malformation hypodontia congenital vertical talus and deletion of eight microsatellite markers in 7q21 1 q21 3
    Journal of Medical Genetics, 2001
    Co-Authors: E Haberlandt, Judith Loffler, Almut Hirststadlmann, Bernd Stockl, Peter Heinzerian, Werner Judmaier, Gerd Utermann, H. Fischer, Thomas Muller, Richard J.h. Smith
    Abstract:

    Editor—The split hand/split foot Malformation (SHFM, MIM 183600) is a central reduction defect of the hands and feet and occurs both as an isolated Malformation and as part of several syndromes including the EEC syndrome (MIM 129900). We report on a 2 yEar old boy with SHFM associated with features of ectodermal hypoplasia, a submucous cleft palate, congenital vertical talus, Malformations of the Middle Ear, profound sensorineural hEaring loss resulting from Mondini dysplasia, and a de novo deletion of the paternal chromosome 7q21.1-q21.3. This patient with syndromic SHFM represents a case of atypical EEC syndrome, but also displays abnormalities previously not associated with SHFM or EEC syndrome. The classical features of the autosomal dominant inherited EEC syndrome are ectrodactyly, ectodermal dysplasia, and clefting of the lip/palate. In most patients, there are additional anomalies typically affecting the urogenital and lacrimal systems.1 2 Some patients also have dysmorphic facies, a tendency to infectious disease, endocrine disorders, and mental retardation. This phenotypic variability has become increasingly apparent over the last 15 yEars3 4 and numerous related and overlapping syndromes have been delineated by many investigators.5 In an attempt to clarify classification, major and minor criteria for the diagnosis of EEC syndrome have been elaborated.3 4 Dominant inheritance of EEC has been documented in several large multigenerational families.6 At least 15 patients have been reported to have cytogenetic abnormalities of chromosome 7q21.2-7q22.1, including nine patients with interstitial deletions.7-9 In addition, mutations in the gene encoding the transactivation factor p63 on chromosome 3q27 have been identified in familial and sporadic cases of EEC syndrome.10 A third locus was mapped to chromosome 19q,11 further delineating the genetic heterogeneity of this syndrome. The reason for the phenotypic heterogeneity in EEC syndrome patients with 7q abnormalities is unclEar …

Marco Mandalà - One of the best experts on this subject based on the ideXlab platform.

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives:Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA).Methods:External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR).Results:Significant improvements were observed in pure-tone threshold and speech perce...

  • Round Window Vibroplasty in Infants and Children with Atretic Ear
    Otolaryngology-Head and Neck Surgery, 2013
    Co-Authors: Vittorio Colletti, Marco Mandalà, Liliana Colletti
    Abstract:

    Objectives: Evaluate long-term safety and outcome of round window vibroplasty (RWVPL) by the placement of the floating mass transducer (FMT) on the round window membrane in infants and children with congenital aural atresia (CAA). Methods: External auditory canal and Middle Ear Malformation, accompanied by more or less severe conductive or mixed hEaring impairment characterize children and infants with CAA. Several atresiaplasty procedures have been proposed without evidence of long-term air-bone gap closure despite initial satisfactory outcome. Prospective study at atertiary referral center. Seven infants and 10 children with CAAwere judged not to be candidates for air and bone conductive hEaring aids and their parents declined bone-anchored hEaring aids. Intervention: RW implantation with the Med-El VSB. Main outcome measures: Pure tone audiogram and free-field speech testing, free-field Auditory Brainstem Response (ABR). Results: Significant improvements were observed in pure-tone threshold and speech perception immediately after surgery and at follow-up intervals (12 to 60 months) in older children (P