[Bilateral swelling of the parotid glands as part of a systemic disease].
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Humans↗
Biomedical subjects
F B Joosten
Publications and source records attributed to F B Joosten.
Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome.
OBJECTIVE: To evaluate vestibular and long-term audiometric findings in patients with Pendred syndrome. STUDY DESIGN: Retrospective analysis of long-term clinical data. SETTING: University hospital department. PATIENTS: Three patients with Pendred syndrome caused by a mutation in the SLC26A4 gene. METHODS: Perchlorate discharge test, mutation analysis of the SLC26A4 gene, MR imaging of temporal bones, vestibular function test (in two cases) and serial audiometry. A saturation hyperbola with onset age was fitted to the audiometric threshold-on-age data using a nonlinear regression method. The residues remaining after regression were analyzed in a correlation analysis to detect significant ipsilateral or contralateral cofluctuation. RESULTS: All three patients had a mutation in the SLC26A4 gene and bilateral enlarged vestibular aqueduct; two of them had a positive perchlorate discharge test but in one of two siblings this test was negative. Hearing loss was significantly progressive with significant ipsilateral and contralateral cofluctuation in all evaluable cases, combined with episodes of Menière like vertigo in two cases. The episodes of vertigo are as seen in Menière disease. One case had unilateral caloric areflexia and one had bilateral vestibular hyporeflexia, proven to be progressive in a repeat examination. CONCLUSIONS: Patients with Pendred syndrome may exhibit progressive and fluctuant hearing loss with episodes of vertigo.
Adult↗
Method for quantitative mapping of dynamic MRI contrast agent uptake in human tumors.
A method is presented for the acquisition and analysis of dynamic contrast-enhanced (DCE) MRI data, focused on the characterization of tumors in humans. Gadolinium (Gd) contrast was administered by bolus injection, and its effect was monitored in time by fast T1-weighted MRI. A simple algorithm was developed for automatic extraction of the arterial input function (AIF) from the DCE-MRI data. This AIF was used in the pixelwise pharmacokinetic determination of physiological vascular parameters in normal and tumor tissue. Maps were reconstructed to show the spatial distribution of parameter values. To test the reproducibility of the method 11 patients with different types of tumors were measured twice, and the rate of contrast agent uptake in the tumor was calculated. The results show that normalizing the DCE-MRI data using individual coregistered AIFs, instead of one common AIF for all patients, substantially reduces the variation between successive measurements. It is concluded that the proposed method enables the reproducible assessment of contrast agent uptake rates.
Algorithms↗
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.
OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. PATIENTS: A father and son with the BOR syndrome. MAIN OUTCOME MEASURES: Both patients underwent imaging studies to detect and evaluate inner ear anomalies. Longitudinal audiometric analysis of the hearing threshold data over the previous 23 years was performed. Caloric tests were performed at various ages. RESULTS: The son had a short, wide internal acoustic canal, a hypoplastic cochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; the semicircular canals and endolymphatic sac were of normal size. He showed progressive fluctuant sensorineural hearing loss. Caloric tests disclosed hyporeflexia on the left side. The father had a plump internal acoustic canal and hypoplastic cochlea on both sides. The left vestibule was hypoplastic, and the left vestibular aqueduct was marginally enlarged. He showed severe hearing impairment, without substantial progression or fluctuation, and caloric areflexia on the left side. CONCLUSION: These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudinal case studies are needed to further evaluate such a correlation.
Adult↗
[Radiology of the esophagus. Basic knowledge].
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Diverticulum, Esophageal↗
Accuracy of normal-dose contrast-enhanced MR angiography in assessing renal artery stenosis and accessory renal arteries.
OBJECTIVE: The purpose of this study was to evaluate the accuracy of breath-hold contrast-enhanced MR angiography in the assessment of renal artery stenosis and accessory renal arteries using a standard dose of gadolinium. SUBJECTS AND METHODS: Thirty-eight patients suspected of having renal artery stenosis underwent MR angiography and intraarterial digital subtraction angiography, which was the method of reference. Three-dimensional gradient-echo MR subtraction angiography (TR/TE, 5.8/1.8 msec) was performed on a 1.5-T imager using a phased array body coil. Before imaging, a separate timing bolus sequence was used, administering 1.0 ml of contrast agent. Gadopentetate dimeglumine (15 ml) was injected using an MR power injector. Two observers, who were unaware of each other's interpretation and of MR findings, assessed digital subtraction angiography. Likewise, two other observers assessed MR angiography. RESULTS: Digital subtraction angiography depicted 75 main and 17 accessory renal arteries (n = 92). All main renal arteries and 13 accessory renal arteries were identified on MR angiography. Compared with digital subtraction angiography, MR imaging correctly classified 57 of 66 arteries without a hemodynamically significant stenosis (0-49%), 22 of 22 arteries as significantly stenotic (50-99%), and four of four occluded arteries; five stenoses were overestimated. There was one false-positive finding of an accessory renal artery on MR angiography that was identified retrospectively on digital subtraction angiography. Interobserver agreement was high. Sensitivity and specificity for grading significant stenosis were 100% and 85%, respectively. CONCLUSION: Contrast-enhanced MR angiography, using +/-0.1 mmol/kg of gadolinium, is an accurate method in the assessment of renal artery stenosis and accessory renal arteries.
Adolescent↗
[Malignant hypertension in a young man with renal artery occlusion diagnosed with magnetic resonance angiography].
A male aged 22 years developed a hypertensive crisis with encephalopathy after his antihypertensive medication had been discontinued with a view to extended diagnostics. Immediate intensive treatment led to rapid and complete recovery. By using gadopentetate acid enhanced magnetic resonance angiography it is possible to obtain a clear image of the morphology of the kidneys and the renal vasculature without the use of iodinated contrast media and arterial catheterisation. This technique revealed an occluded renal artery and a recent infarction that possibly had led to the serious and threatening events.
Adult↗
Temporal bone CT findings in the CHARGE association.
Ten out of 20 cases with the CHARGE association and two CHARGE-like cases underwent temporal bone CT scanning and/or MRI: they all showed bilateral aplasia of the semicircular canals and obliteration of the oval windows. Vestibular examination was performed in nine CHARGE cases and the two CHARGE-like cases, which disclosed vestibular areflexia in all of them. Of the 16 evaluable CHARGE cases, eight had bilateral mixed hearing impairment, while eight had sensorineural hearing impairment which was bilateral in six and unilateral in two cases. Temporal bone CT scanning is therefore indicated in suspected CHARGE cases, even if they show normal hearing or a relatively good bone conduction threshold in one or both ears.
Abnormalities, Multiple↗
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's syndrome was confirmed by a mutation analysis of the PDS gene in 11 out of the 11 cases tested. Recent imaging of the temporal bones in seven out of these 12 patients showed widened vestibular aqueducts in each case. The diagnostic perchlorate test was negative in one patient, but this test was positive in her affected sister. Mutation analysis of the PDS gene in these patients confirmed that Pendred's syndrome is a monogenetic disorder. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of Pendred's syndrome, which provides the opportunity to diagnose Pendred's syndrome clinically in the first few years of life, as has recently been suggested in a case report (Cremers et al., Progressive sensorineural hearing loss and a widend vestibular aqueduct in Pendred syndrome, Arch. Otolaryngol. 124 (1998) 501-505). Mutation analysis of the involved gene can be used to confirm the clinical diagnosis.
Child↗
[Treatment of renal artery stenosis with intra-arterial stents].
In some patients with hypertension or renal insufficiency, renal artery stenosis can play a causative part. If fibromuscular dysplasia is the pathology of the stenosis, treatment of the stenosis by transluminal percutaneous renal angioplasty (TPRA) results in improvement of the concomitant hypertension in 80-90% of the patients. In case of atherosclerotic lesions 50% of the patients benefit by such treatment. In renal insufficiency TPRA of atherosclerotic lesions results in improvement of renal function in only one third of the patients. As restenosis and elastic recoil are seen as the prime determinants of this lack of success in atherosclerosis, intravascular stents were developed with the aim to accomplish a permanent dilation of the arterial lumen. In recent studies stent placement resulted in cure of high blood pressure in 0-16% of the patients and in improvement in 35-70%. The percentage of improvement must be viewed with caution because of the open design of these studies. Improvement of renal function was reported in 7-36% of the patients and worsening in 8-18%. Based on these outcomes stent placement in stenosed renal arteries should not be regarded as a routine clinical treatment.
Angioplasty, Balloon↗
The value of ultrasound with ultrasound-guided fine-needle aspiration biopsy compared to computed tomography in the detection of regional metastases in the clinically negative neck.
PURPOSE: Head and neck oncologists have not reached consensus regarding the role of contemporary imaging techniques in the evaluation of the clinically negative neck in patients with head and neck squamous cell carcinoma (HNSCC). The purpose of the present study was to compare the accuracy of ultrasound with guided fine-needle aspiration biopsy (UGFNAB) and computed tomography (CT) in detecting lymph node metastasis in the clinically negative neck. METHODS AND MATERIALS: Sixty-four neck sides of patients with HNSCC were examined preoperatively by ultrasound/UGFNAB and CT at one of five participating tertiary care medical centers. The findings were correlated with the results of histopathologic examination of the neck specimen. RESULTS: Ultrasound with guided fine-needle aspiration biopsy was characterized by a sensitivity of 48%, specificity of 100%, and overall accuracy of 79%. Three cases had nondiagnostic aspirations using UGFNAB and were excluded. CT demonstrated a sensitivity of 54%, specificity of 92%, and overall accuracy of 77%. UGFNAB detected two additional metastases not visualized on CT, whereas CT detected no metastases not seen on UGFNAB. The results of UGFNAB were similar between the participating centers. CONCLUSIONS: Approximately one half of the clinically occult nodal metastases in our patient group were identified by both CT and UGFNAB. Overall, UGFNAB and CT demonstrated comparable accuracy. The sensitivity of CT was slightly better than UGFNAB, but the latter remained characterized by a superior specificity. The results of CT and UGFNAB did not appear to be supplementary. The choice of imaging modality for staging of the clinically negative neck depends on tumor site, T-stage, and experience and preference of the head and neck oncologist. If CT is required for staging of the primary tumor, additional staging of the neck by UGFNAB does not provide significant additional value.
Biopsy, Needle↗
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.
Pendred syndrome is an autosomal recessive inherited disorder. Obligatory features are profound deafness in childhood and defective organic binding of iodine in the thyroid gland. Therefore, goiter is a common symptom. Hypoplasia of the cochlea is another feature. Recently, the gene for Pendred syndrome was identified. We describe a boy whose sensorineural hearing loss in both ears progressed rapidly from about 50 to 60 dB at the age of 3 years and 3 months to more than 100 dB at the age of 4 years and 4 months. This loss was preceded by a medical history of a progressive hearing loss. The progressive nature of the hearing loss motivated a search for the cause. Dysplasia of the cochlea and a widened vestibular aqueduct were found. The results of thyroid function tests were normal, but he had an elevated level of thyroglobulin. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of iodine in the thyroid gland. It is possible that the widened vestibular aqueduct was responsible for the increase in the hearing impairment. Aside from the branchio-otorenal syndrome, Pendred syndrome is the only other known genetic disorder with a widened vestibular aqueduct. If a child has progressive sensorineural deafness and a widened vestibular aqueduct, it is important to consider a diagnosis of Pendred syndrome. A widened vestibular aqueduct may help to elucidate the pathophysiologic characteristics of hearing loss in these genetic types of deafness in childhood.
Child, Preschool↗
Magnetic resonance angiography has a high reliability in the detection of renal artery stenosis.
In this prospective study we examined the value of magnetic resonance angiography (MRA) in the imaging of the proximal renal arteries, with the main aim of detecting renal arterial stenosis, as compared with intraarterial digital subtraction angiography. The study was done among a group of 38 hypertensive patients seen in the outpatient department of the department of medicine of our university hospital. In all patients a magnetic resonance angiography and an intraarterial subtraction angiography of the renal arteries was made, and the outcomes of the investigations were compared. Clinical and biochemical data of the patients also were analyzed in relation to the presence or absence of a stenosis. In one patient, MRA resulted in technical failure because of unsuspected claustrophobia. Of the remaining 37 patients, 14 had renal artery stenosis. Of 12 patients in whom the stenoses were >50% of luminal surface on intraarterial digital subtraction angiography, eight were unilateral and four bilateral. All these stenoses were recognized by magnetic resonance angiography. There was also one false positive result by magnetic resonance. Thus, for the identification of stenoses >50%, magnetic resonance has a sensitivity of 100% and a specificity of 96%. Of the 12 accessory renal arteries seen on digital subtraction angiography, only three were identified by magnetic resonance angiography. We conclude that magnetic resonance angiography has great accuracy in depicting the main renal arteries and detecting clinically significant renal artery stenosis; however, the identification of accessory renal arteries is suboptimal and should be improved.
Adult↗
Glomus tumours and genomic imprinting: influence of inheritance along the paternal or maternal line.
Two new families with glomus tumours and two additions to earlier publications are presented. The pattern of inheritance is autosomal dominant. Familial glomus tumours are inherited almost exclusively via the paternal line, a finding inconsistent with autosomal dominant transmission. This can be explained by genomic imprinting. The maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. Two different loci have been assigned, one to a 5 cM region of chromosome 11q13.1 and one to 11q22.3-q23.3. Genomic imprinting has already been found for the distal locus and here we demonstrate that the proximal locus is subject to genomic imprinting too. Genomic imprinting has considerable implications for genetic counselling in families with glomus tumours. In addition to this the sex ratio among affected offspring appears to be influenced by the paternal or maternal origin of the gene of the transmitting father.
Aged↗
Esophageal fibrovascular polyp.
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Angiofibroma↗
Camurati-Engelmann disease presenting as 'juvenile otosclerosis'.
Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain in her lower legs. There was no history of hearing loss (or CED) in her family. She had been suffering from progressive hearing impairment since childhood. Serial audiograms demonstrated progressive mixed hearing loss from the age of 11 years onwards, for which she underwent successful stapes surgery bilaterally at the age of 13-18 years. Clinical ('juvenile') otosclerosis was found with stapes footplate fixation. Unfortunately, the sensorineural hearing loss component proved to be progressive bilaterally after surgery. At the age of 30 years, she experienced more rapid deterioration of her hearing loss in the right ear and episodes of vertigo. Vestibular examinations demonstrated progressive vestibular impairment 'otospongiotic' lesions with encroachment on the cochlear and vestibular labyrinth were found on high resolution CT scans at the age of 40 years; the internal auditory canal was normal bilaterally. CED may have formed a chance combination with juvenile otosclerosis in our patient, or otosclerosis may be part of the CED phenotype.
Adult↗
Regional metastasis in head and neck squamous cell carcinoma: revised value of US with US-guided FNAB.
PURPOSE: To verify the acclaimed accuracy of ultrasound (US) combined with US-guided fine-needle aspiration biopsy (FNAB) in the detection of lymph node metastasis in the neck and to evaluate the interobserver variability. MATERIALS AND METHODS: In a prospective, multicenter study of 185 patients with head and neck squamous cell carcinoma, US (n=238 neck sides) with US-guided FNAB (n=178 neck sides) was used for evaluation of the lymph node status of the neck. Findings were correlated with those of histopathologic examination in 238 neck sides. RESULTS: US with US-guided FNAB had a sensitivity of 77% and a specificity of 100%. Nineteen of 178 aspirations were nondiagnostic. There were no significant differences between the four participating hospitals or the individual sonologists (P>.05). CONCLUSION: Sensitivity of US with US-guided FNAB was slightly lower compared with previous reports. Specificity was similar to previous reports. Interobserver variability appeared to be low. The validity of US with US-guided FNAB is high and warrants widespread use of the procedure for evaluation of the neck.
Adult↗
[Skull roof reconstruction in infants].
In this article an introduction into craniofacial surgery in children is given based on the case histories of two patients (cleido-cranial dysplasia and cranio-synostosis).
Child↗