Seltene Erkrankungen des Mittelohres und der lateralen Schädelbasis

Weiss, Nora M.

doi:10.1055/a-1347-4171

Cited by 6 publications

(3 citation statements)

References 279 publications

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“…More recently there has been an emergence of radionucleotide scans and positron emission tomography (PET) 2‐deoxy‐2‐[fluorine‐18] fluoro‐D‐glucose with CT (18F‐FDG‐PET/CT), although these are less widely accessible. Biopsies are also invaluable in confirming the presence of inflammation and establishing specific antibiotic therapy for the responsible organism 17 . Where these diagnostic tests are not always available, or time is limited; infection markers in the blood can also help clinicians further strengthen their suspicion of NOE.…”

Section: Discussionmentioning

confidence: 99%

“…Biopsies are also invaluable in confirming the presence of inflammation and establishing specific antibiotic therapy for the responsible organism. 17 Where these diagnostic tests are not always available, or time is limited; infection markers in the blood can also help clinicians further strengthen their suspicion of NOE. Erythrocyte sedimentation rate (ESR) has been found to be one of the most specific markers correlating to the progression of NOE.…”

Section: Diagnostic Optionsmentioning

confidence: 99%

See 1 more Smart Citation

The diagnostic conundrum in necrotizing otitis externa

Ahmed

Rashid

Gupta

et al. 2023

World j. otorhinolaryngol.-head neck surg.

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Necrotizing otitis externa (NOE) is an aggressive and fast‐evolving infection of the external auditory canal. Late diagnoses and untreated cases can lead to severe, even fatal consequences and so early diagnosis and treatment are paramount. NOE is a notoriously challenging diagnosis to make. It is therefore important to understand what diagnostic modalities are available and how otolaryngologists can use them to accurately treat such an aggressive disease. This review aims to evaluate the different diagnostic options available in NOE and discuss their advantages and limitations, thus, providing an up‐to‐date picture of the multimodal approach required in the diagnosis of this disease.

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Section: Discussionmentioning

confidence: 99%

Section: Diagnostic Optionsmentioning

confidence: 99%

The diagnostic conundrum in necrotizing otitis externa

Ahmed

Rashid

Gupta

et al. 2023

World j. otorhinolaryngol.-head neck surg.

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show abstract

“…As previously alluded to, when performing mSTP, the authors remove enough bone to fully visualize and remove disease, but do not usually perform extensive bony exenteration of uninvolved bone as originally described in the literature (12). In contrast to the paranasal sinuses, where retained mucosa in an obliterated cavity risks mucocele formation, mucocele development in the obliterated temporal bone is exceedingly rare (34,35). Many of these patients have sclerotic mastoids and extensive bone removal may add unnecessary time and risk to the operation.…”

Section: Discussionmentioning

confidence: 99%

Quality-of-Life Outcomes After Modified Subtotal Petrosectomy With Ear Canal Closure for Chronic Otitis Media

et al. 2022

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ObjectiveTo assess quality-of-life (QoL) outcomes after modified subtotal petrosectomy with ear canal closure (mSTP) for chronic otitis media.Study DesignSurvey study.SettingTertiary referral center.PatientsPatients with chronic otitis media.InterventionsmSTP.Main Outcome MeasuresSurvey results from enrolled patients on the validated disease-specific Chronic Ear Survey (CES) and Chronic Otitis Media Outcome Test-15 (COMOT-15) regarding their current state of health and, if surgery was performed within 3 years of enrollment, their state of health before mSTP.ResultsA total of 23 patients were studied, including 19 who underwent surgery within 3 years of enrollment. Postoperatively, mean total CES scores were 80 and COMOT-15 scores were 41, with a higher CES and a lower COMOT-15 indicating better QoL. There were statistically significant improvements after mSTP in the CES activity restriction (25% difference; p = 0.008), symptom (17% difference; p = 0.007), and medical resource (13% difference; p = 0.03) domain and total (18% difference; p = 0.006) scores. In addition, there were statistically significant improvements in the COMOT-15 ear symptom (−22% difference; p < 0.001) domain and total (−16% difference; p = 0.01) scores; however, improvements in the hearing function and mental health domains did not achieve statistical significance. Postoperative COMOT-15 total scores were significantly better for patients who underwent aural rehabilitation compared to those who did not (−17% difference; p < 0.001).ConclusionModified subtotal petrosectomy with ear canal closure is a useful intervention for patients with recalcitrant chronic otitis media, offering improved QoL in appropriately selected patients. Aural rehabilitation, when feasible, provides the potential for further QoL improvement.

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Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

Li,

Mei,

et al. 2024

Human Cell

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Van der Hoeve's syndrome, also known as osteogenesis imperfecta (OI), is a genetic connective tissue disorder characterized by fragile, fracture-prone bone and hearing loss. The disease is caused by a gene mutation in one of the two type I collagen genes COL1A1 or COL1A2. In this study, we identi ed a novel frameshift mutation of the COL1A1 gene (c.1607delG) in a family with OI using whole-exome sequencing, bioinformatics analysis and Sanger sequencing. This mutation may lead to the deletion of a portion of exon 23 and the generation of a premature stop codon in the COL1A1 gene. To further investigate the impact of this mutation, we established two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMC) of OI patients carrying a novel mutation in the COL1A1 gene. Using a CRISPR-based homology-directed repair strategy, we corrected the OI disease-causing COL1A1 novel mutations in iPSCs generated from an affected individual. Two OI patients' iPSCs and corrected OI-iPSC lines displayed a normal karyotype, morphology, pluripotency, and potential to differentiate into three germ layers. These ndings demonstrate the potential of iPSCs derived from affected OI patients and corrected OI-iPSCs as a tool to study the pathophysiologic mechanisms of speci c mutations. Overall, our results provide new insights into the genetic basis of Van der Hoeve's syndrome and highlight the potential of iPSC technology for disease modeling and therapeutic development.

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Seltene Erkrankungen des Mittelohres und der lateralen Schädelbasis

Cited by 6 publications

References 279 publications

The diagnostic conundrum in necrotizing otitis externa

The diagnostic conundrum in necrotizing otitis externa

Quality-of-Life Outcomes After Modified Subtotal Petrosectomy With Ear Canal Closure for Chronic Otitis Media

Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

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