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1.
PEC Innov ; 3: 100204, 2023 Dec 15.
Article in English | MEDLINE | ID: mdl-37693727

ABSTRACT

Objectives: Patient-reported experience measures (PREMs) can be used for the improvement of quality of care. In this study, the outcome of an open-ended question PREM combined with computer-assisted analysis is compared to the outcome of a closed-ended PREM questionnaire. Methods: This survey study assessed the outcome of the open-ended questionnaire PREM and a close-ended question PREM of patients with unilateral vestibular schwannoma in a tertiary vestibular schwannoma expert centre. Results: The open-ended questions PREM, consisting of five questions, was completed by 507 participants and resulted in 1508 positive and 171 negative comments, categorised into 27 clusters. The close-ended questions PREM results were mainly positive (overall experience graded as 8/10), but did not identify specific action points. Patients who gave high overall scores (>8) on the close-ended question provided points for improvement in the open-ended question PREM, which would have been missed using the close-ended questions only. Conclusions: Compared to the close-ended question PREM, the open-ended question PREM provides more detailed and specific information about the patient experience in the vestibular schwannoma care pathway. Innovation: Automated analysis of feedback with the open-ended question PREM revealed relevant insights and identified topics for targeted quality improvement, whereas the close-ended PREM did not.

2.
Eur Arch Otorhinolaryngol ; 279(6): 2819-2826, 2022 Jun.
Article in English | MEDLINE | ID: mdl-34218308

ABSTRACT

BACKGROUND: Employment is an important factor in quality of life. For vestibular schwannoma (VS) patients, employment is not self-evident, because of the sequelae of the disease or its treatment and their effects on daily life. OBJECTIVES: This study assessed employment status, sick leave (absenteeism) and being less productive at work (presenteeism) in the long-term follow-up of VS patients, and evaluated the impact of treatment strategy (active surveillance, surgery or radiotherapy). METHODS: A cross-sectional survey study was performed in a tertiary university hospital in the Netherlands. Patients completed the iMTA-post productivity questionnaire (iPCQ). Employment status was compared to that of the general Dutch population. Employment, absenteeism and presenteeism were compared between patients under active surveillance, patients after radiotherapy and post-surgical patients. RESULT: In total 239 patients participated, of which 67% were employed at the time of the study. Only 14% had a disability pension, which was comparable to the age-matched general Dutch population. The proportion of patients with absenteeism was 8%, resulting in a 4% reduction of working hours. Presenteeism was reported by 14% of patients, resulting in a 2% reduction of working hours. The median number of working hours per week was 36, and since the diagnosis, these hours had been reduced by 6%. There were no significant differences between treatment modalities. CONCLUSION: On average, long-term employment status and working hours of VS patients are comparable to the age-matched general population. Treatment strategies do not seem to differentially impact on long-term employment of VS patients.


Subject(s)
Neuroma, Acoustic , Quality of Life , Absenteeism , Cross-Sectional Studies , Employment , Humans , Neuroma, Acoustic/surgery , Surveys and Questionnaires
3.
Int J Pediatr Otorhinolaryngol ; 150: 110891, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34425354

ABSTRACT

OBJECTIVE: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). STUDY DESIGN: Multicenter retrospective cohort study. SETTING: Three tertiary otology and audiology referral centers. PATIENTS AND DIAGNOSTIC INTERVENTIONS: A total of 34 children with a unilateral enlarged vestibular aqueduct as identified on CT and/or MR imaging were evaluated with pure tone and speech perception audiometry. MEAN OUTCOME MEASURES: Radiologic measurements of the vestibular aqueduct, ipsi- and contralateral hearing loss, ipsi- and contralateral hearing loss progression over time and DNA test results. RESULTS: All patients in this cohort with unilateral EVA presented with hearing loss. Hearing loss was progressive in 38% of the ipsilateral ears. In 29% of the children, hearing loss was also found in the contralateral ear without EVA. In 90%, the contralateral hearing was stable, with a mean follow up of 4.2 years. We found a significant correlation between the severity of the hearing loss and the size of the EVA. A genetic diagnosis associated with EVA and/or SNHL was found in only 7%. CONCLUSION: About a third of the children with unilateral EVA are at risk of developing hearing loss in the contralateral ear. This indicates that at least in some patients with a unilateral EVA, a bilateral pathogenic process underlies the hearing loss, in contrary to what the imaging results suggest. These findings are important for counseling of EVA patients and their parents and have implications for follow up.


Subject(s)
Hearing Loss, Sensorineural , Hearing Loss , Vestibular Aqueduct , Child , Hearing Loss, Sensorineural/diagnostic imaging , Humans , Retrospective Studies , Vestibular Aqueduct/abnormalities , Vestibular Aqueduct/diagnostic imaging
4.
Oral Oncol ; 121: 105465, 2021 10.
Article in English | MEDLINE | ID: mdl-34352556

ABSTRACT

Middle ear adenomatous neuroendocrine tumours (MEANTs) are rare, unpredictable tumours. Although most MEANTs are characterized by a benign biological behaviour and indolent growth pattern, some studies have reported locally invasive and metastastic disease. Currently, the optimal management strategy for MEANTs remains subject of debate. The aim of this study is to review the literature on MEANTs with focus on its clinical characteristics, treatment strategies and outcome. A systematic review was conducted using PubMed, Embase and Cochrane databases. A total of 111 studies comprising 198 patients with MEANT were included. Treatment modalities comprised surgery (90%), surgery with adjuvant radiotherapy (9%) and palliative (chemo)radiotherapy in (1%). Local recurrence was observed in 25% of the patients and 7% of the patients developed metastasis, over a median period of 5.7 years (range 7 months - 32 years). Twelve of 13 patients (92%) who developed metastases had a local recurrence. Four patients (2%) died of MEANT: three due to distant metastases and one due to extensive local recurrence. Reliable histopathologic predictors of outcome could not be identified. These findings indicate that the clinical presentations of MEANT vary substantially, the overall recurrence rate is considerable and initial local tumour control is paramount. Because of the unpredictable clinical course, prolonged follow-up is warranted.


Subject(s)
Ear Neoplasms , Neuroendocrine Tumors , Ear Neoplasms/diagnosis , Ear Neoplasms/therapy , Ear, Middle , Humans , Neuroendocrine Tumors/diagnosis , Neuroendocrine Tumors/therapy
5.
Eur Arch Otorhinolaryngol ; 278(9): 3237-3244, 2021 Sep.
Article in English | MEDLINE | ID: mdl-33026499

ABSTRACT

PURPOSE: In cases of small- to medium-sized vestibular schwannomas, three management strategies can be opted for: active surveillance, surgery or radiotherapy. In these cases, the patient's preference is pivotal in decision-making. The aim of this study was to identify factors that influence a patient's decision for a particular management strategy. METHODS: A qualitative inductive thematic analysis was performed based on semi-structured interviews. Eighteen patients with small- to medium-sized vestibular schwannomas were interviewed. All patients were diagnosed or treated at one of the two participating university medical centers in the Netherlands. RESULTS: Ten themes were identified that influenced the decision, classified as either medical or patient-related. The medical themes that emerged were: tumor characteristics, the physician's recommendation, treatment outcomes and the perceived center's experience. The patient-related themes were: personal characteristics, anxiety, experiences, cognitions, logistics and trust in the physician. CONCLUSION: Knowledge of the factors that influence decision-making helps physicians to tailor their consultations to arrive at a true shared decision on vestibular schwannoma management.


Subject(s)
Neurilemmoma , Neuroma, Acoustic , Decision Making , Humans , Netherlands , Neuroma, Acoustic/therapy , Patient Reported Outcome Measures , Qualitative Research
6.
Eur J Pediatr ; 178(8): 1195-1205, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31152317

ABSTRACT

This study aims to evaluate the etiology of pediatric sensorineural hearing loss (SNHL). A total of 423 children with SNHL were evaluated, with the focus on the determination of causative genetic and acquired etiologies of uni- and bilateral SNHL in relation to age at diagnosis and severity of the hearing loss. We found that a stepwise diagnostic approach comprising of imaging, genetic, and/or pediatric evaluation identified a cause for SNHL in 67% of the children. The most common causative finding in children with bilateral SNHL was causative gene variants (26%), and in children with unilateral SNHL, a structural anomaly of the temporal bone (27%). The probability of finding an etiologic diagnosis is significantly higher in children under the age of 1 year and children with profound SNHL.Conclusions: With our stepwise diagnostic approach, we found a diagnostic yield of 67%. Bilateral SNHL often has a genetic cause, whereas in unilateral SNHL structural abnormalities of the labyrinth are the dominant etiologic factor. The diagnostic yield is associated with the age at detection and severity of hearing loss: the highest proportion of causative abnormalities is found in children with a young age at detection or a profound hearing loss. What is Known: • Congenital sensorineural hearing loss is one of the most common congenital disorders • Determination of the cause is important for adequate management and prognosis and may include radiology, serology, and DNA analysis What is New: • Using a stepwise diagnostic approach, causative abnormalities are found in 67% both in uni- and bilateral SNHL, with the highest diagnostic yield in very young children and those suffering from profound hearing loss • Bilateral SNHL often has a genetic cause, whereas in unilateral SNHL structural abnormalities of the labyrinth are the dominant etiologic factor.


Subject(s)
Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/etiology , Adolescent , Audiometry , Child , Child, Preschool , Female , Genetic Markers , Genetic Testing , Hearing Loss, Bilateral/diagnosis , Hearing Loss, Bilateral/etiology , Hearing Loss, Unilateral/diagnosis , Hearing Loss, Unilateral/etiology , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Retrospective Studies , Severity of Illness Index , Tomography, X-Ray Computed
8.
BJS Open ; 2(2): 62-69, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29951630

ABSTRACT

BACKGROUND: Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations. METHODS: This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands. RESULTS: In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours. CONCLUSION: If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.

9.
Int J Pediatr Otorhinolaryngol ; 108: 180-185, 2018 May.
Article in English | MEDLINE | ID: mdl-29605351

ABSTRACT

OBJECTIVE: To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing loss (SNHL), in relation to age and the severity of hearing loss. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral otology and audiology center. PATIENTS AND DIAGNOSTIC INTERVENTIONS: From January 2006 until January 2016, a total of 207 children diagnosed with symmetric and asymmetric bilateral SNHL were included. They underwent CT and/or MR imaging for the evaluation of the etiology of their hearing loss. MAIN OUTCOME MEASURES: Radiologic abnormalities associated with SNHL. RESULTS: 302 scans were performed in 207 children (median age of 0.8 years old) with bilateral SNHL. The most frequently identified cause of bilateral SNHL was a malformation of the labyrinth. The combined diagnostic yield of CT and MR imaging was 32%. The diagnostic yield of MR (34%) was considerably higher than that of CT (20%). We found a higher rate of abnormalities in children with profound hearing loss (41%) compared to milder hearing loss (8-29%), and in asymmetric SNHL (52%) compared to symmetric SNHL (30%). CONCLUSION: Imaging is essential in the etiologic evaluation of children with bilateral SNHL. The highest diagnostic yield is found in children with bilateral asymmetric SNHL or profound SNHL. Based on our findings, MR is the primary imaging modality of choice in the etiological evaluation of children with bilateral SNHL because of its high diagnostic yield.


Subject(s)
Hearing Loss, Bilateral/diagnostic imaging , Hearing Loss, Sensorineural/diagnostic imaging , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Adolescent , Child , Child, Preschool , Cohort Studies , Ear, Inner/abnormalities , Female , Hearing Loss, Bilateral/etiology , Hearing Loss, Sensorineural/etiology , Humans , Infant , Male , Retrospective Studies
10.
Clin Otolaryngol ; 43(3): 841-845, 2018 06.
Article in English | MEDLINE | ID: mdl-29292578

ABSTRACT

OBJECTIVE: In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL) are caused by germline variants in the succinate dehydrogenase genes (SDHD, SDHB, SDHAF2). Here, we evaluate a four-generation family linked to a novel SDHB gene variant with the manifestation of a HNPGL. DESIGN: A family-based study. SETTING: The VU University Medical Center (VUmc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery. PARTICIPANTS AND MAIN OUTCOME MEASURES: The index patients presented with an embryonic rhabdomyosarcoma and a non-Hodgkin lymphoma. Array-based comparative genomic hybridisation (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4. Subsequently, genetic counselling and DNA testing were offered to all family members at risk. Individuals that tested positive for this novel SDHB gene variant were counselled and additional clinical evaluation was offered for the identification of HNPGL and/or PHEO. RESULTS: The DNA of 18 family members was tested, resulting in the identification of 10 carriers of the exon 1-3 deletion in the SDHB gene. One carrier was diagnosed with a carotid body PGL and serum catecholamine excess, which was surgically excised. Negative SDHB immunostaining of the carotid body tumour confirmed that it was caused by the SDHB variant. The remaining 9 carriers showed no evidence of PGL/PHEO. CONCLUSION: Deletion of exon 1-3 in the SDHB gene is a novel germline variant associated with the formation of hereditary HNPGL.


Subject(s)
Germ-Line Mutation/genetics , Head and Neck Neoplasms/genetics , Paraganglioma/genetics , Succinate Dehydrogenase/genetics , Adolescent , Adult , Child , Exons/genetics , Female , Gene Deletion , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/surgery , Humans , Male , Middle Aged , Netherlands , Paraganglioma/pathology , Paraganglioma/surgery , Pedigree , Young Adult
11.
Clin Genet ; 93(1): 60-66, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28503760

ABSTRACT

Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors using a novel maximum likelihood estimator. This estimator addresses ascertainment bias and missing data on pedigree size and structure. A total of 195 SDHB mutation carriers were included, carrying 27 different SDHB mutations. The 2 most prevalent SDHB mutations were Dutch founder mutations: a deletion in exon 3 (31% of mutation carriers) and the c.423+1G>A mutation (24% of mutation carriers). One hundred and twelve carriers (57%) displayed no physical, radiological or biochemical evidence of PGL or PHEO. Fifty-four patients had a head and neck PGL (28%), 4 patients had a PHEO (2%), 26 patients an extra-adrenal PGL (13%). The overall penetrance of SDHB mutations is estimated to be 21% at age 50 and 42% at age 70 when adequately corrected for ascertainment. These estimates are lower than previously reported penetrance estimates of SDHB-linked cohorts. Similar disease risks are found for different SDHB germline mutations as well as for male and female SDHB mutation carriers.


Subject(s)
Adrenal Gland Neoplasms/genetics , Germ-Line Mutation , Paraganglioma/genetics , Pheochromocytoma/genetics , Succinate Dehydrogenase/genetics , Adult , Aged , Aged, 80 and over , Female , Genotype , Humans , Male , Middle Aged , Netherlands , Penetrance , Phenotype , Retrospective Studies
12.
J Laryngol Otol ; 131(7): 593-597, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28502274

ABSTRACT

OBJECTIVE: To determine signs and symptoms for superior canal dehiscence syndrome caused by the superior petrosal sinus. METHODS: A review of the English-language literature on PubMed and Embase databases was conducted, in addition to a multi-centre case series report. RESULTS: The most common symptoms of 17 patients with superior petrosal sinus related superior canal dehiscence syndrome were: hearing loss (53 per cent), aural fullness (47 per cent), pulsatile tinnitus (41 per cent) and pressure-induced vertigo (41 per cent). The diagnosis was made by demonstration of the characteristic bony groove of the superior petrosal sinus and the 'cookie bite' out of the superior semicircular canal on computed tomography imaging. CONCLUSION: Pulsatile tinnitus, hearing loss, aural fullness and pressure-induced vertigo are the most common symptoms in superior petrosal sinus related superior canal dehiscence syndrome. Compared to superior canal dehiscence syndrome caused by the more common apical location of the dehiscence, pulsatile tinnitus and exercise-induced vertigo are more frequent, while sound-induced vertigo and autophony are less frequent. There is, however, considerable overlap between the two subtypes. The distinction cannot as yet be made on clinical signs and symptoms alone, and requires careful analysis of computed tomography imaging.


Subject(s)
Cavernous Sinus , Labyrinth Diseases/diagnosis , Labyrinth Diseases/etiology , Semicircular Canals , Adult , Female , Humans , Image Enhancement , Image Interpretation, Computer-Assisted , Male , Meniere Disease/diagnosis , Meniere Disease/etiology , Middle Aged , Postural Balance/physiology , Sensation Disorders/diagnosis , Sensation Disorders/etiology , Tomography, X-Ray Computed
13.
Int J Pediatr Otorhinolaryngol ; 97: 185-191, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28483233

ABSTRACT

OBJECTIVE: Evaluation of causal abnormalities identified on CT and MR imaging in children with unilateral sensorineural hearing loss (USNHL), and the association with age and severity of hearing loss. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral otology/audiology center. PATIENTS AND DIAGNOSTIC INTERVENTIONS: 102 children diagnosed with USNHL between 2006 and 2016 were included. They underwent CT and/or MR imaging for the evaluation of the etiology of their hearing loss. MAIN OUTCOME MEASURES: Radiologic abnormalities of the inner ear and brain associated with USNHL. RESULTS: Using CT and/or MR imaging, causal abnormalities were identified in 49%, which is higher than previously reported (25-40%). The most frequently affected site was the labyrinth (29%), followed by the cochlear nerve (9%) and brain (7%). No significant difference in the number or type of abnormalities was found for the degree of hearing loss or age categories. CONCLUSIONS: Imaging is essential in the etiologic analysis of USNHL because of the high prevalence of causative abnormalities that can be identified with radiology, irrespective of the patients' age or degree of hearing loss. CT and MR imaging are complementary imaging options. The ideal imaging algorithm is controversial. Based on our findings, we conclude that there is limited additional diagnostic value of simultaneous dual modality imaging over sequential diagnostics. We therefore perform a stepwise radiological workup in order to maximize the diagnostic yield while minimizing impact and costs. If the primary imaging modality does not identify a cause for USNHL, performing the alternative imaging modality should be considered. LEVEL OF EVIDENCE: Retrospective cohort study 2b.


Subject(s)
Brain/pathology , Ear, Inner/pathology , Hearing Loss, Sensorineural/etiology , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Adolescent , Audiometry , Brain/diagnostic imaging , Child , Child, Preschool , Cohort Studies , Ear, Inner/diagnostic imaging , Female , Hearing Loss, Sensorineural/diagnostic imaging , Humans , Infant , Male , Netherlands , Prevalence , Retrospective Studies , Tertiary Care Centers
14.
BMJ Case Rep ; 20162016 Oct 08.
Article in English | MEDLINE | ID: mdl-28049117

ABSTRACT

In this paper, we describe the case of a 62-year-old female with recurring episodes of sudden deafness with vertigo and facial paresis. Within a month's time, this resulted in bilateral deafness and vestibular areflexia. Erroneously, the patient was diagnosed with sudden deafness of unknown origin and subsequently with neuroborreliosis (Lyme disease). The true diagnosis of relapsing polychondritis (RP) was revealed 9 months after initial presentation. The diagnostic delay is in part explained by the fact that, by definition, the disease has to relapse before the diagnosis can be made, but also by its pluriform clinical presentation. Timely identification of RP as the cause of this profound sensorineural hearing loss proved to be important. It was key in instigating adequate follow-up, and allowed for cochlear implantation before total cochlear obliteration, which might have hampered optimal hearing rehabilitation.


Subject(s)
Cochlear Implantation , Hearing Loss, Sensorineural/etiology , Hearing Loss, Sudden/etiology , Polychondritis, Relapsing/diagnosis , Diagnostic Errors , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Polychondritis, Relapsing/complications
15.
Clin Genet ; 89(1): 128-32, 2016 Jan.
Article in English | MEDLINE | ID: mdl-25827221

ABSTRACT

In the Netherlands, the majority of hereditary paragangliomas (PGL) is caused by SDHD, SDHB and SDHAF2 mutations. Founder mutations in SDHD are particularly prevalent, but several SDHB founder mutations have also been described. Here, we describe an extended PGL family with a Dutch founder mutation in SDHB, c.201-4429_287-933del. The proband presented with apparently sporadic head and neck paraganglioma at advanced age. Subsequently, evaluation of the family identified several unaffected mutation carriers, asymptomatic and symptomatic PGL patients, and patients presenting with early-onset malignant pheochromocytoma. The calculated penetrance of the SDHB mutation in this kindred is lower than the risk suggested for SDHB mutations in the literature. This may represent a characteristic of this particular SDHB mutation, but may also be a reflection of the inclusion of relatively large numbers of asymptomatic mutation carriers in this family and adequate statistical correction for ascertainment bias. The low penetrance of SDHB mutations may obscure the hereditary nature of SDHB-linked disease and is important in the counseling of SDHB-linked patients. Risk estimates should preferably be based on the specific mutation involved.


Subject(s)
Exons , Germ-Line Mutation , Paraganglioma/genetics , Penetrance , Pheochromocytoma/genetics , Sequence Deletion , Succinate Dehydrogenase/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Genotype , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Paraganglioma/diagnosis , Paraganglioma/mortality , Pedigree , Phenotype , Pheochromocytoma/diagnosis , Pheochromocytoma/mortality , Young Adult
16.
Clin Microbiol Infect ; 18(9): 849-55, 2012 Sep.
Article in English | MEDLINE | ID: mdl-21958295

ABSTRACT

We assessed the incidence of hearing loss and its relationship with clinical characteristics and pneumococcal serotypes in adults surviving pneumococcal meningitis. We analysed hearing loss in 531 adults surviving pneumococcal meningitis included in two prospective nationwide cohort studies performed from April 1998 through to October 2002 and March 2006 through to January 2009. Hearing loss was evaluated on admission and discharge for all patients. Severe hearing loss was assessed by pure tone average on audiology and corrected for age, or by the combination of hearing loss on discharge and a score on the Glasgow Outcome Scale below 5, which could not be explained by other neurological sequelae. A total of 531 episodes of pneumococcal meningitis with non-lethal outcome were included. Predisposing conditions for pneumococcal meningitis were present in the majority of patients (64%), most commonly otitis (36%). Hearing loss was present at discharge in 116 patients (22%) and was classified as mild in 53% and severe in 47%. Hearing loss was related to otitis (odds ratio [OR], 2.58; 95% confidence interval [CI], 1.66-4.02; p < 0.001) and inversely related to serotype 23 F infection (OR, 0.36; 95% CI, 0.13-0.98; p = 0.025), but not with parameters of disease severity or indicators of cerebrospinal fluid inflammation severity. Meningitis due to pneumococcal serotype 3 was associated with the highest rate of hearing loss. Hearing loss frequently complicates pneumococcal meningitis. Risk factors for hearing loss were infection with pneumococcal serotype 23 F and otitis, but not disease severity. Otitis and resulting perilympathic inflammation contribute to meningitis-associated hearing loss.


Subject(s)
Hearing Loss/microbiology , Meningitis, Pneumococcal/complications , Otitis/microbiology , Streptococcus pneumoniae/classification , Adult , Aged , Chi-Square Distribution , Cohort Studies , Female , Hearing Loss/epidemiology , Hearing Loss/etiology , Humans , Incidence , Male , Meningitis, Pneumococcal/epidemiology , Meningitis, Pneumococcal/microbiology , Middle Aged , Netherlands/epidemiology , Otitis/epidemiology , Prospective Studies , Risk Factors , Streptococcus pneumoniae/isolation & purification
17.
Clin Genet ; 81(3): 284-8, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21348866

ABSTRACT

Mutations in four genes encoding subunits or cofactors of succinate dehydrogenase (SDH) cause hereditary paraganglioma and pheochromocytoma syndromes. Mutations in SDHB and SDHD are generally the most common, whereas mutations in SDHC and SDHAF2 are far less frequently observed. A total of 1045 DNA samples from Dutch paraganglioma and pheochromocytoma patients and their relatives were analyzed for mutations of SDHB, SDHC, SDHD or SDHAF2. Mutations in these genes were identified in 690 cases, 239 of which were index cases. The vast majority of mutation carriers had a mutation in SDHD (87.1%). The second most commonly affected gene was SDHAF2 (6.7%). Mutations in SDHB were found in only 5.9% of samples, whereas SDHC mutations were found in 0.3% of samples. Remarkably, 69.1% of all carriers of a mutation in an SDH gene in the Netherlands can be attributed to a single founder mutation in SDHD, c.274G>T and p.Asp92Tyr. Moreover, 88.8% of all SDH mutation carriers carry one of just six Dutch founder mutations in SDHB, SDHD and SDHAF2. The dominance of SDHD mutations is unique to the Netherlands, contrasting with the higher prevalence of SDHB mutations found elsewhere. In addition, we found that most SDH mutation-related paragangliomas-pheochromocytomas in the Netherlands can be explained by only six founder mutations in SDHAF2, SDHB and SDHD. The findings underline the regional differences in the SDH mutation spectrum, differences that should be taken into account in the development of effective screening protocols. The results show the crucial role that demographic factors play in the frequency of gene mutations.


Subject(s)
Founder Effect , Mutation , Succinate Dehydrogenase/genetics , Adrenal Gland Neoplasms/genetics , Humans , Netherlands/epidemiology , Paraganglioma/genetics , Pheochromocytoma/genetics , Prevalence
18.
Clin Endocrinol (Oxf) ; 75(5): 650-5, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21561462

ABSTRACT

OBJECTIVE: Head and neck paragangliomas (HNPGL) are associated with mutations in genes encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate SDH mutations, family history and phenotypes of patients with HNPGL in the Netherlands. DESIGN: We evaluated the clinical data and the mutation status of 236 patients referred between 1950 and 2009 to Leiden University Medical Center. RESULTS: The large majority of the patients carried mutations in SDHD (83%), and the p.Asp92Tyr Dutch founder mutation in SDHD alone accounted for 72% of all patients with HNPGL. A mutation in SDHAF2 was found in 4%, mutations in SDHB in 3% and a mutation in SDHC was identified in a single patient (0·4%). Over 80% of patients presented with positive family history, of whom 99·5% carried a mutation in an SDH gene. SDH mutations were also found in 56% of isolated patients, chiefly in SDHD (46%), but also in SDHB (8%) and SDHC (2%). The clinical parameters of these different subgroups are discussed: including the age at diagnosis, associated pheochromocytomas, tumour multifocality and malignancy rate. CONCLUSION: The majority of Dutch patients with HNPGL present with a positive family history, in contrast to other European countries. The clinical characteristics of patients with HNPGL are chiefly determined by founder mutations in SDHD, the major causative gene in both familial and isolated patients with HNPGL. The high frequency of founder mutations in SDHD suggests a higher absolute prevalence of paraganglioma syndrome in the Netherlands.


Subject(s)
Head and Neck Neoplasms/genetics , Head and Neck Neoplasms/pathology , Paraganglioma/genetics , Paraganglioma/pathology , Succinate Dehydrogenase/genetics , Adult , Female , Humans , Male , Membrane Proteins/genetics , Middle Aged , Mutation , Netherlands
19.
Int J Otolaryngol ; 2011: 845879, 2011.
Article in English | MEDLINE | ID: mdl-22229033

ABSTRACT

Objective. To describe the audiological, anesthesiological, and surgical key points of cochlear implantation after bacterial meningitis in very young infants. Material and Methods. Between 2005 and 2010, 4 patients received 7 cochlear implants before the age of 9 months (range 4-8 months) because of profound hearing loss after pneumococcal meningitis. Results. Full electrode insertions were achieved in all operated ears. The audiological and linguistic outcome varied considerably, with categories of auditory performance (CAP) scores between 3 and 6, and speech intelligibility rating (SIR) scores between 0 and 5. The audiological, anesthesiological, and surgical issues that apply in this patient group are discussed. Conclusion. Cochlear implantation in very young postmeningitic infants is challenging due to their young age, sequelae of meningitis, and the risk of cochlear obliteration. A swift diagnostic workup is essential, specific audiological, anesthesiological, and surgical considerations apply, and the outcome is variable even in successful implantations.

20.
Hernia ; 9(1): 46-50, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15616762

ABSTRACT

Inguinal hernia (IH) surgery has changed substantially in the past decade. Conventional (nonmesh) techniques have largely given way to prostheses. This study's aim was to analyse whether changes in technique used for IH repair influenced the operation rate for recurrence. A retrospective study was performed on all adult males who had undergone IH surgery in the Amsterdam region during the calendar years of 1994, 1996, 1999, and 2001. Data were obtained for 3,649 subjects and included patient demographics, hernia type, and surgical technique. We observed a decrease in the use of conventional techniques and a significant increase (P<0.05) in the use of prosthetic materials. The number of operations performed for recurrent hernia decreased from 19.5% (216/1,108) in 1994, to 16.8% 197/1,170) in 1996, to 14.0% (152/1,088) in 1999, and to 14.1% (40/283) in 2001. When comparing 1999 and 2001 with 1994, there was a significant decrease in operations performed for recurrent hernia (P=0.005). There was also a significant increase in supervision of the surgical resident by a surgeon.


Subject(s)
Hernia, Inguinal/surgery , Surgical Procedures, Operative , Adolescent , Adult , Aged , Aged, 80 and over , Chi-Square Distribution , Clinical Competence/standards , General Surgery/education , General Surgery/standards , Humans , Internship and Residency , Male , Middle Aged , Netherlands , Prosthesis Implantation/instrumentation , Prosthesis Implantation/trends , Recurrence , Reoperation/statistics & numerical data , Retrospective Studies , Surgical Mesh/statistics & numerical data , Surgical Procedures, Operative/methods , Surgical Procedures, Operative/statistics & numerical data , Surgical Procedures, Operative/trends , Suture Techniques/statistics & numerical data
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