X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings

Parlak, Şafak; Gümeler, Ekim; Sennaroḡlu, Levent; Özgen, Burçe

doi:10.5152/dir.2021.20791

Cited by 3 publications

(4 citation statements)

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“…However, because IP III is a rare genetic anomaly, it was inevitable that our case number would be low. The patient population could not be increased much, even in studies conducted only on IP cases in the literature 34,35 …”

Section: Discussionmentioning

confidence: 99%

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Comprehension of Cochlear Duct Length for Incomplete Partition Types

Aksoy,

Meltem,

Karagöz

et al. 2023

J Comput Assist Tomogr

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Objective Preoperative assessment of the cochlear duct length (CDL) and cochlear dimensions allows the selection of optimized implants. We aimed to evaluate the CDL measurements in incomplete partition (IP) defect patients and to create a reference to the literature. Methods Forty-one patients with IP (13 IP I, 23 IP II, and 5 IP III) and 30 controls were included in the study. The standardized cochlear image showing the basal turn in the most expansive plane was reconstructed from temporal high-resolution computed tomography images. Cochlear duct length measured manually (CDL-M) was measured by points placed consecutively on the lateral wall of the cochlea. The defined equations for estimating CDL (CDL measured according to Schurzig et al formula [CDL-Ɵ], CDL measured according to Escudé et al formula [CDL-E], CDL measured according to Alexiades et al formula [CDL-A]) were calculated from the same images. Cochlear duct length mean values obtained by each method were compared for each IP type. Results The longest CDL value was found in the control group, irrespective of the calculation method. Incomplete partition II cases had the most extended mean CDL among IP types. Incomplete partition III had the shortest CDL among all groups' CDL-M values. However, the mean CDL-M values of IP types I and III showed close results. There was no significant difference between the CDL-E and CDL-M values of the control group. Similarly, no significant difference was found between CDL-Ɵ and CDL-M values in IP type III cases. However, the results of other estimating formulations of all groups differed significantly from CDL-M values. Conclusion Cochlear duct length differences were detected between the control group and IP subtypes. These differences should be considered when choosing the appropriate electrode length. Because the results of formulas estimating CDL may differ from CDL-M in both control and IP cases, it would be more appropriate to use manual measurements in clinical practice.

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Section: Discussionmentioning

confidence: 99%

“…The patient population could not be increased much, even in studies conducted only on IP cases in the literature. 34,35…”

Section: Table 4 Comparison Of Cdl-m Cdl-ɵ Cdl-e and Cdl-a Values Amo...mentioning

confidence: 99%

Comprehension of Cochlear Duct Length for Incomplete Partition Types

Aksoy,

Meltem,

Karagöz

et al. 2023

J Comput Assist Tomogr

View full text Add to dashboard Cite

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“…For this reason, Smeds et al 38 consider that an extensive and consistent multidisciplinary team approach is required to treat co‐occurring neurodevelopmental disorders during childhood to support overall rehabilitation. In this context, it is worthwhile to mention that a potential association between X‐linked deafness DFNX2 and the presence of hypothalamic malformation, called hamartoma, has been recently reported 63,68–71 . Hypothalamic hamartoma is a rare congenital glioneuronal anomaly that can mimic a hypothalamic mass on imaging, without any change in size or spread in the follow‐up.…”

Section: Pou3f4 ‐Related Hearing Loss Is Associated With Neurodevelop...mentioning

confidence: 99%

“…In this context, it is worthwhile to mention that a potential association between X‐linked deafness DFNX2 and the presence of hypothalamic malformation, called hamartoma, has been recently reported. 63 , 68 , 69 , 70 , 71 Hypothalamic hamartoma is a rare congenital glioneuronal anomaly that can mimic a hypothalamic mass on imaging, without any change in size or spread in the follow‐up. These observations suggest that only about 20% of DFNX2 patients would have normal hypothalamic anatomy.…”

Section: Pou3f4 ‐Related Hearing Loss Is Associated With Neu...mentioning

confidence: 99%

Considering gene therapy to protect from X‐linked deafness DFNX2 and associated neurodevelopmental disorders

Defourny

2022

Ibrain

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Mutations and deletions in the gene or upstream of the gene encoding the POU3F4 transcription factor cause X-linked progressive deafness DFNX2 and additional neurodevelopmental disorders in humans. Hearing loss can be purely sensorineural or mixed, that is, with both conductive and sensorineural components. Affected males show anatomical abnormalities of the inner ear, which are jointly defined as incomplete partition type III. Current approaches to improve hearing and speech skills of DFNX2 patients do not seem to be fully effective. Owing to inner ear malformations, cochlear implantation is surgically difficult and may predispose towards severe complications. Even in cases where implantation is safely performed, hearing and speech outcomes remain highly variable among patients. Mouse models for DFNX2 deafness revealed that sensorineural loss could arise from a dysfunction of spiral ligament fibrocytes in the lateral wall of the cochlea, which leads to reduced endocochlear potential. Highly positive endocochlear potential is critical for sensory hair cell mechanotransduction and hearing. In this context, here, we propose to develop a therapeutic approach in male Pou3f4 −/y mice based on an adeno-associated viral (AAV) vector-mediated gene transfer in cochlear spiral ligament fibrocytes. Among a broad range of AAV vectors, AAV7 was found to show a strong tropism for the spiral ligament. Thus, we suggest that an AAV7mediated delivery of Pou3f4 complementary DNA in the spiral ligament of Pou3f4 −/y mice could represent an attractive strategy to prevent fibrocyte degeneration and to restore normal cochlear functions and properties, including a positive endocochlear potential, before hearing loss progresses to profound deafness.

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Research progress on incomplete partition type 3 inner ear malformation

Xu,

Xiao,

Luo

et al. 2024

Eur Arch Otorhinolaryngol

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Purpose This review aims to provides a comprehensive overview of the latest research progress on IP-III inner ear malformation, focusing on its geneticbasis, imaging features, cochlear implantation, and outcome. Methods Review the literature on clinical and genetic mechanisms associated with IP-III. Results Mutations in the POU3F4 gene emerge as the principal pathogenic contributors to IP-III anomalies, primarily manifesting through inner ear potential irregularities leading to deafness. While cochlear implantation stands as the primary intervention for restoring hearing, the unique nature of the inner ear anomaly escalates the complexity of surgical procedures and postoperative results. Hence, meticulous preoperative assessment to ascertain surgical feasibility and postoperative verification of electrode placement are imperative. Additionally, gene therapy holds promise as a prospective treatment modality. Conclusions IP-III denotes X-linked recessive hereditary deafness, with cochlear implantation currently serving as the predominant therapeutic approach. Clinicians are tasked with preoperative assement and individualized postoperative rehabilitation.

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X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings

Cited by 3 publications

References 0 publications

Comprehension of Cochlear Duct Length for Incomplete Partition Types

Comprehension of Cochlear Duct Length for Incomplete Partition Types

Considering gene therapy to protect from X‐linked deafness DFNX2 and associated neurodevelopmental disorders

Research progress on incomplete partition type 3 inner ear malformation

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