663 results on '"Neurosensory disorders [UMCN 3.3]"'
Search Results
652. Bilateral middle cerebral artery aneurysms
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T. Menovsky and J.A. Grotenhuis
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medicine.medical_specialty ,Neurology ,medicine.diagnostic_test ,business.industry ,Cerebral arteries ,Interventional radiology ,medicine.artery ,Middle cerebral artery ,Perception and Action [DCN 1] ,medicine ,Neurosensory disorders [UMCN 3.3] ,Surgery ,Neurology (clinical) ,Neurosurgery ,Radiology ,Human medicine ,business ,Neuroradiology - Abstract
Contains fulltext : 47655.pdf (Publisher’s version ) (Closed access)
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- 2005
653. Rugpijn. Meer dan pijn alleen
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Rijswijk, H.C.A.M. van
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Neurosensory disorders [UMCN 3.3] ,Effective primary care and public health [NCEBP 7] - Abstract
Item does not contain fulltext
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- 2005
654. [Turning the head, an unusual mechanism to compensate for diplopia caused by abduction restriction of one eye]
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Vos, A.M.C. and Cruysberg, J.R.M.
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Neurosensory disorders [UMCN 3.3] - Abstract
Item does not contain fulltext
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- 2005
655. Fenestrated optic nerve
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J. De Vries and Thomas Menovsky
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Hereditary cancer and cancer-related syndromes [ONCOL 1] ,business.industry ,Perception and Action [DCN 1] ,Optic nerve ,Neurosensory disorders [UMCN 3.3] ,Medicine ,Anatomy ,business - Abstract
Item does not contain fulltext
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- 2005
656. The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16
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Martijn H. Kemperman, H. Kremer, August F. Deutman, van Lith-Verhoeven Jj, F.P.M. Cremers, van den Helm B, H.M.A. Brink, de Jong Wh, and Carel B. Hoyng
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Adult ,Male ,Candidate gene ,Adolescent ,Genetic Linkage ,DNA Mutational Analysis ,Visual Acuity ,Locus (genetics) ,Biology ,Macular Degeneration ,Benign concentric annular macular dystrophy ,Genetic linkage ,Electroretinography ,medicine ,Humans ,Point Mutation ,Neurosensory disorders [UMCN 3.3] ,Eye Proteins ,Aged ,Glycoproteins ,Genetics ,Extracellular Matrix Proteins ,Interphotoreceptor matrix proteoglycan 1 ,Chromosome Mapping ,Dystrophy ,Middle Aged ,Macular dystrophy ,medicine.disease ,Pedigree ,Stargardt disease ,Amino Acid Substitution ,Chromosomes, Human, Pair 6 ,Female ,Proteoglycans ,Lod Score ,Follow-Up Studies - Abstract
Contains fulltext : 57999.pdf (Publisher’s version ) (Closed access) PURPOSE: To describe the clinical findings and to identify the genetic locus in a Dutch family with autosomal dominant benign concentric annular macular dystrophy (BCAMD). METHODS: All family members underwent ophthalmic examination. Linkage analysis of candidate retinal dystrophy loci and a whole genome scan were performed. Five candidate genes from the linked locus were analyzed for mutations by direct sequencing. RESULTS: The BCAMD phenotype is initially characterized by parafoveal hypopigmentation and good visual acuity, but progresses to a retinitis pigmentosa-like phenotype. Linkage analysis established complete segregation of the BCAMD phenotype (maximum multipoint LOD score, 3.8) with DNA markers at chromosome 6, region p12.3-q16. Recombination events defined a critical interval spanning 30.7 cM at the long arm of chromosome 6 between markers D6S269 and D6S300. This interval encompasses several retinal dystrophy loci, including the ELOVL4 gene, mutated in autosomal dominant Stargardt disease, and the RIM1 gene, mutated in autosomal dominant cone-rod dystrophy, as well as the retinally expressed GABRR1 and -2 genes. Mutation screening of these four genes revealed no mutations. Sequence analysis of the interphotoreceptor matrix proteoglycan 1 gene IMPG1, also residing in the BCAMD locus, revealed a single base-pair change (T-->C) of nucleotide 1866 in exon 13, resulting in a Leu579Pro amino acid substitution. This mutation was absent in 190 control individuals. CONCLUSIONS: Significant linkage was found for the BCAMD defect with chromosomal 6, region p12.3-q16. A Leu579Pro mutation in the IMPG1 gene may play a causal role.
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- 2004
657. Microsurgical third ventriculocisternostomy as an alternative to ETV: report of two cases
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Erik J. van Lindert
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Male ,medicine.medical_specialty ,Microsurgery ,Tomography Scanners, X-Ray Computed ,genetic structures ,Adolescent ,medicine.medical_treatment ,Clinical Neurology ,Third ventriculocisternostomy ,Case Report ,Lamina terminalis ,Ventriculostomy ,medicine ,Perception and Action [DCN 1] ,Neurosensory disorders [UMCN 3.3] ,Humans ,Pediatrics, Perinatology, and Child Health ,Minimally invasive ,Child ,Third Ventricle ,business.industry ,Supraorbital approach ,General Medicine ,Magnetic Resonance Imaging ,Surgery ,medicine.anatomical_structure ,Neuroendoscopy ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Neurosurgery ,business ,Hydrocephalus - Abstract
Contains fulltext : 69347.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To describe a microsurgical alternative to endoscopic third ventriculocisternostomy. METHODS: Two children with shunt-dependent hydrocephalus and multiple shunt revisions were considered candidates for third ventriculocisternostomy (TVS). Because of slit ventricles, an endoscopic approach was not possible and, therefore, both patients received a microsurgical TVS by a supraorbital approach. RESULTS: In both cases, microsurgical TVS was successful and the patients became shunt free. CONCLUSION: Microsurgical TVS by a supraorbital craniotomy is a viable alternative to endoscopic TVS in selected cases.
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658. Ventilation tubes in infants increase the risk of otorrhoea and antibiotic usage
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Ingels, K., Maroeska Rovers, Wilt, G. J., and Zielhuis, G. A.
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Human Reproduction [NCEBP 12] ,Age-related aspects of cancer [ONCOL 2] ,Evaluation of complex medical interventions [NCEBP 2] ,Interventional oncology [UMCN 1.5] ,Perception and Action [DCN 1] ,Effective Hospital Care [EBP 2] ,otorhinolaryngologic diseases ,Neurosensory disorders [UMCN 3.3] - Abstract
Item does not contain fulltext 1) PROBLEM/OBJECTIVE: The effect of ventilation tubes on acute otitis related symptoms (otorrhoea, earache, and fever) and on antibiotic usage was investigated in children with persistent otitis media with effusion, as part of a multicenter, randomised, controlled clinical trial. 2) METHODOLOGY: One hundred-eighty-seven children were randomly placed into either a watchful waiting group (WW group) (n = 94) or a group treated with ventilation tubes (VT group) (n = 93). Both groups were followed for 12 months. Data were collected from parental reports and from medical files kept by the attending ENT-surgeons. 3) RESULTS: There were significant differences in the reported frequency of otorrhoea (but not of earache or fever) between both groups during follow-up, i.e. children in the VT group had more episodes of otorrhoea than the children in the WW group (p < 0.003). As a consequence, children in the VT group had been prescribed antibiotics more often. 4) CONCLUSIONS: Young children treated with ventilation tubes due to persistent otitis media with effusion have a higher risk of developing otorrhoea because of the tubes, and they have a higher risk of needing treatment with antibiotics.
659. PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)
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Janssens, S., Defoort, P., Vandenbroecke, C., Scheffer, H., and Geert Mortier
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Genomic disorders and inherited multi-system disorders [IGMD 3] ,stomatognathic diseases ,Genetic defects of metabolism [UMCN 5.1] ,Neurosensory disorders [UMCN 3.3] ,Functional Neurogenomics [DCN 2] - Abstract
Item does not contain fulltext We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.
660. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
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Richard J.H. Smith, Rikkert L. Snoeckx, A.P.M. de Brouwer, Hubertus P. H. Kremer, Kris Flothmann, C.W.R.J. Cremers, R.J.H. Ensink, and G. Van Camp
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Genetic Markers ,Male ,Candidate gene ,genetic structures ,Hearing loss ,Genetic Linkage ,Hearing Loss, Sensorineural ,Short Report ,Locus (genetics) ,Biology ,Genetic linkage ,Genetics ,medicine ,Neurosensory disorders [UMCN 3.3] ,Humans ,Age of Onset ,Child ,Genetics (clinical) ,Genes, Dominant ,Genetic heterogeneity ,Haplotype ,Chromosome Mapping ,Syndrome ,medicine.disease ,Pedigree ,Genetic marker ,Child, Preschool ,Sensorineural hearing loss ,Chromosomes, Human, Pair 6 ,Female ,medicine.symptom - Abstract
Contains fulltext : 57228.pdf (Publisher’s version ) (Closed access) BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. OBJECTIVE: To investigate the genes involved in a Dutch family with NSSHL. METHODS: Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the mid and high frequencies, in which a novel dominant locus for postlingual NSSHL (DFNA31) has been identified. RESULTS: DFNA31 was found to be located in a 7.5 cM region of chromosome 6p21.3 between D6S276 (telomeric) and D6S273 (centromeric), with a maximum two point LOD score of 5.99 for D6S1624. DNA sequencing of coding regions and exon/intron boundaries of two candidate genes (POU5F1, GABBR1) in this interval did not reveal disease causing mutations. CONCLUSIONS: Haplotype analysis indicated that the genetic defect in this family does not overlap the DFNA13 and DFNA21 regions that are also located on 6p. Identification of the disease gene will be of major importance in understanding the pathophysiology of hearing impairment.
661. The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss
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Eyken, Els, Laer, Lut, Fransen, Erik, Topsakal, Vedat, Hendrickx, Jan-Jaap, Demeester, Kelly, Paul Van de Heyning, Maki-Torkko, Elina, Hannula, Samuli, Sorri, Martti, Jensen, Mona, Parving, Agnete, Bille, Michael, Baur, Manuela, Pfister, Markus, Bonaconsa, Amanda, Mazzoli, Manuela, Orzan, Eva, Espeso, Angeles, Stephens, Dafydd, Verbruggen, Katia, Huyghe, Joke, Dhooge, Ingeborg, Huygen, Patrick, Kremer, Hannie, Cremers, Cor, Kunst, Sylvia, Manninen, Mina, Pyykko, Ilmari, Rajkowska, Elzbieta, Pawelczyk, Malgorzata, Sliwinska-Kowalska, Mariola, Steffens, Michael, Wienker, Thomas, Camp, Guy, Surgical clinical sciences, Ear, nose & throat, Specialities, and Internal Medicine Specializations
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Male ,Aging ,Heterozygote ,Genotype ,Mutation/genetics ,Genetics and epigenetic pathways of disease [NCMLS 6] ,Connexins/genetics ,Connexins ,Europe/epidemiology ,surgery ,Gene Frequency ,Hearing Loss/genetics ,Perception and Action [DCN 1] ,otorhinolaryngologic diseases ,Humans ,risk factors ,Neurosensory disorders [UMCN 3.3] ,Hearing Loss ,Aged ,Hearing Loss, Noise-Induced/genetics ,Middle Aged ,Aging/physiology ,Europe ,Occupational Diseases ,Connexin 26 ,Occupational Diseases/epidemiology ,Hearing Loss, Noise-Induced ,Otorhinolaryngology ,Genetic defects of metabolism [UMCN 5.1] ,Data Interpretation, Statistical ,Mutation ,Female ,Functional Neurogenomics [DCN 2] - Abstract
Contains fulltext : 52415.pdf (Publisher’s version ) (Closed access) HYPOTHESIS: The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL). BACKGROUND: GJB2, a gene encoding a gap junction protein expressed in the inner ear, has been suggested to be involved in the potassium recycling pathway in the cochlea. GJB2 mutations account for a large number of individuals with nonsyndromic recessive hearing loss, with 35delG being the most frequent mutation in populations of European origin. Other genes involved in potassium homeostasis have been suggested to be associated with ARHI and NIHL, and distortion product otoacoustic emission distortions indicative of hearing loss alterations have been found in 35delG carriers. METHOD: We genotyped 35delG in two distinct sample sets: an ARHI sample set, composed of 2,311 Caucasian samples from nine different centers originating from seven different countries with an age range between 53 and 67 years, and an NIHL sample set consisting of 702 samples from the two extremes of a noise-exposed Polish sample. RESULTS: After statistical analysis, we were unable to detect an association between 35delG and ARHI, nor between 35delG and NIHL. CONCLUSION: Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.
662. Congenital conductive hearing loss in dyschondrosteosis
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Gudrun A. Rappold, Grétel Oudesluijs, Rob C.A. Sengers, Els De Leenheer, Cor W. R. J. Cremers, and Anne-Marie Kuijpers-Jagtman
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Male ,Tissue engineering and reconstructive surgery [UMCN 4.3] ,medicine.medical_specialty ,Cephalometry ,Hearing loss ,medicine.medical_treatment ,Hearing Loss, Conductive ,Pseudoautosomal region ,Incus ,Dwarfism ,Ulna ,Stapes Surgery ,Audiology ,Osteochondrodysplasias ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Short Stature Homeobox Protein ,medicine ,otorhinolaryngologic diseases ,Humans ,Neurosensory disorders [UMCN 3.3] ,Abnormalities, Multiple ,Child ,030223 otorhinolaryngology ,In Situ Hybridization, Fluorescence ,Genes, Dominant ,Stapes ,Homeodomain Proteins ,medicine.diagnostic_test ,business.industry ,General Medicine ,Stapedectomy ,medicine.disease ,Osteochondrodysplasia ,Pedigree ,Conductive hearing loss ,Radius ,Otorhinolaryngology ,030220 oncology & carcinogenesis ,Mutation ,Audiometry, Pure-Tone ,Chromosome Deletion ,medicine.symptom ,Audiometry ,business ,Microsatellite Repeats - Abstract
Item does not contain fulltext Conductive hearing loss was detected in a boy with a previous diagnosis of dyschondrosteosis. Dyschondrosteosis is a rare inherited condition characterized by mesomelic dwarfism and Madelung's deformity. The syndrome can be caused by mutations in the SHOX gene, and in that case, the pattern of inheritance is pseudoautosomal dominant. Indeed, SHOX mutation analysis in our patient revealed a deletion. The combination of dyschondrosteosis and conductive hearing loss has been reported in 2 previous cases. In our patient, exploratory tympanotomy revealed ankylosis of the stapes and a malformed incus. A substantial gain in hearing threshold was obtained by a stapedectomy in combination with a malleovestibulopexy.
663. Coiling of very large or giant cerebral aneurysms: Long-term clinical and serial angiographic results
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Menno Sluzewski, Menovsky, T., Rooij, W. J., and Wijnalda, D.
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Adult ,Male ,Neurologic Examination ,Patient Care Team ,Interventional ,Intracranial Aneurysm ,Middle Aged ,Subarachnoid Hemorrhage ,Combined Modality Therapy ,Embolization, Therapeutic ,Cerebral Angiography ,Survival Rate ,Treatment Outcome ,Retreatment ,cardiovascular system ,Neurosensory disorders [UMCN 3.3] ,Humans ,Female ,cardiovascular diseases ,Craniotomy ,Aged ,Follow-Up Studies - Abstract
BACKGROUND AND PURPOSE: Initial complete occlusion of very large or giant aneurysms often cannot be accomplished, and most will partially reopen over time. This study was performed to assess the clinical and angiographic outcome of patients with very large or giant cerebral aneurysms treated with detachable coils. METHODS: During 6 years, 29 patients with 31 very large or giant (20–55-mm) cerebral aneurysms were initially treated with detachable coils. Nineteen patients presented with subarachnoid hemorrhage (SAH), and eight patients had symptoms of mass effect. One patient had an incidental aneurysm, and one patient had an additional aneurysm. RESULTS: Twenty-three (79%) of 29 patients had a good clinical outcome at a median follow-up of 50 months. One of 19 patients presenting with SAH had repeat bleed (annual rebleeding rate, 1.45%). After initial coiling, seven of 31 aneurysms were incompletely occluded; this rate increased to 20 of 29 aneurysms at 6-month follow-up angiography. After 16 repeat coiling procedures in 13 aneurysms, 12 of 29 aneurysms in surviving patients were still incompletely occluded. After additional treatment other than coiling (parent-vessel occlusion and/or surgery) in eight aneurysms, three of 25 aneurysms in 24 surviving patients were incompletely occluded. Only 13 (42%) of 31 aneurysms had one coiling as a sole therapy. CONCLUSION: Coiling of very large or giant aneurysms can be considered. Long-term clinical outcomes were good in 79% of patients. The stability of the coil mesh over time was poor, requiring repeat coiling, surgery, and/or parent-vessel balloon occlusion in 58% of the aneurysms primarily treated with coils.
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