Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

OBJECTIVES: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping from a clinical and an anatomical point of view. METHODS: This French multicenter study included 32 KBG patients with retrospective collection of data on audiological features, ear imaging and genetic investigations. RESULTS: We identified a typical audiological profil in KBG syndrome: conductive (71%), bilateral (81%), mild to moderate (84%) and stable (69%) hearing loss, with some audiological heterogeneity. Among patients with an abnormality on CT imaging (55%), ossicular chain impairment (67%), fixation of the stapes footplate (33%) and inner-ear malformations (33%) were the most common abnormalities. CONCLUSION: We recommend a complete audiological and radiological evaluation and an ENT-follow up in all patients presenting with KBG Syndrome. Imaging evaluation is necessary to determine the nature of lesions in the middle and inner ear.

[Which prostheses to use in mesh sacrocolpopexy? Experimental and clinical study]. / Promontofixation : quelles prothèses choisir ? Étude expérimentale et clinique.

BACKGROUND: Sacrocolpopexy is the standard surgical treatment of genital prolapse of the upper vaginal wall. Nowadays, the laparotomy approach is progressively supplanted by the laparoscopic procedure for the same anatomical results. About sacrocolpopexy, to date it still remains details of the technique, which differ with surgical teams maintaining controversy. Among them, the choice of the meshes certainly creates debate. OBJECTIVES: To state the basic physicochemical principles which are necessary for surgeons to select the most suitable prosthetic material to obtain the most beneficial anatomic and functional outcomes for patients. MATERIAL AND METHODS: The concepts of prosthetic biocompatibility, strength, shrinkage, deformation and elasticity are discussed. They are illustrated by experimental animal references and also human clinical references. RESULTS: Macroporous polypropylene and polyester prostheses (pore size>1 mm) are properly integrated. Collagen prosthetic coating improves tissue integration. Absorbable and nonabsorbable ultralight prostheses expose patients to a high risk of recurrence. Multifilament polyester wide pore-side prostheses have less retraction and are more flexible than monofilament polypropylene prostheses. DISCUSSION AND CONCLUSION: The prosthetic cut-off weight below which the mesh does not offer any guarantee of strength is not precisely known. Moreover, the benefit of weight reduction is not proved. Currently, heavy weight multifilament polyester prostheses with wide pore size, more than 1mm, appear to be the most appropriate meshes for sacrocolpopexy without vaginal incision.

Comparison between anatomy and resistance of upper airway in normal subjects, snorers and OSAS patients.

Upper airway (UA) anatomical abnormalities are frequently observed in obstructive sleep apnea syndrome (OSAS). The correspondence between UA anatomical modifications and UA resistance (UAR) had not been studied. We aimed to determine if cephalometric characteristics could be related to segmental UAR. In twenty-five patients (21 males) (15 OSAS patients, 10 snorers) and 10 control subjects (8 males), segmental UAR were measured in supine position and cephalometry was performed. Inspiratory and expiratory UAR were calculated at peak flow. Length of the soft palate (LP), posterior airway space (PAS), distance from hyoid bone to mandibular plane and to posterior pharyngeal wall were different between the groups (P<0.01). Inspiratory and expiratory, total and segmental, UAR were higher in OSAS (P<0.001). Segmental UAR were correlated with PAS and distance from hyoid bone to mandibular plane and to pharyngeal posterior wall (P<0.05). In conclusion, OSAS patients had higher UAR depending on anatomical variables, especially the place of the hyoid bone.