| 1. |
- Agrawal, Yuri, et al.
(författare)
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Presbivestibulopatía : criterios diagnósticos. Documento de consenso del Comité de Clasificación de la Bárány Society
- 2022
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Ingår i: Acta Otorrinolaringologica Espanola. - : Elsevier BV. - 0001-6519. ; 73:1, s. 42-50
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the diagnostic criteria for presbyvestibulopathy (PVP) of the Classification Committee of the Bárány Society. PVP is defined as a chronic vestibular syndrome characterized by unsteadiness, gait disturbance, and/or recurrent falls in the presence of mild bilateral vestibular deficits, with findings on laboratory tests that are between normal values and the thresholds established for bilateral vestibulopathy. The diagnosis of PVP is based on patient history, bedside examination, and laboratory evaluation. The diagnosis of PVP requires bilaterally reduced function of the vestibulo-ocular reflex (VOR). This can be diagnosed for the high frequency range of the VOR with video-HIT (vHIT), for the middle frequency range with rotary chair testing, and for the low frequency range with caloric testing. For the diagnosis of PVP, the horizontal angular VOR gain on both sides should be < .8 and > .6, and/or the sum of the maximal peak velocities of the slow phase caloric-induced nystagmus for stimulation with warm and cold water on each side should be < 25°/s and > 6°/s, and/or the horizontal angular VOR gain should be > .1 and < .3 upon sinusoidal stimulation on a rotatory chair. PVP typically occurs along with other age-related deficits of vision, proprioception, and/or cortical, cerebellar, and extrapyramidal function which also contribute to and might even be required for symptoms of unsteadiness, gait disturbance, and falls to manifest. These criteria simply consider the presence of these symptoms, along with documented impairment of vestibular function, in older adults.
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| 2. |
- Agrawal, Yuri, et al.
(författare)
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Presbyvestibulopathy : Diagnostic criteria Consensus document of the classification committee of the Bárány Society
- 2019
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Ingår i: Journal of Vestibular Research: Equilibrium and Orientation. - 1878-6464. ; 29:4, s. 161-170
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the diagnostic criteria for presbyvestibulopathy (PVP) by the Classification Committee of the Bárány Society. PVP is defined as a chronic vestibular syndrome characterized by unsteadiness, gait disturbance, and/or recurrent falls in the presence of mild bilateral vestibular deficits, with findings on laboratory tests that are between normal values and thresholds established for bilateral vestibulopathy.The diagnosis of PVP is based on the patient history, bedside examination and laboratory evaluation. The diagnosis of PVP requires bilaterally reduced function of the vestibulo-ocular reflex (VOR). This can be diagnosed for the high frequency range of the VOR with the video-HIT (vHIT); for the middle frequency range with rotary chair testing; and for the low frequency range with caloric testing.For the diagnosis of PVP, the horizontal angular VOR gain on both sides should be < 0.8 and > 0.6, and/or the sum of the maximal peak velocities of the slow phase caloric-induced nystagmus for stimulation with warm and cold water on each side should be < 25°/s and > 6°/s, and/or the horizontal angular VOR gain should be > 0.1 and < 0.3 upon sinusoidal stimulation on a rotatory chair.PVP typically occurs along with other age-related deficits of vision, proprioception, and/or cortical, cerebellar and extrapyramidal function which also contribute and might even be required for the manifestation of the symptoms of unsteadiness, gait disturbance, and falls. These criteria simply consider the presence of these symptoms, along with documented impairment of vestibular function, in older adults.
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| 3. |
- Brownstein, Catherine A., et al.
(författare)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 4. |
- Huppert, Doreen, et al.
(författare)
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Dizziness in Europe : from licensed fitness to drive to licence without fitness to drive
- 2018
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Ingår i: Journal of Neurology. - : Springer Science and Business Media LLC. - 0340-5354 .- 1432-1459. ; 265:S1, s. 9-17
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Tidskriftsartikel (refereegranskat)abstract
- A common European Community driving licence was established in 1980. However, there are major differences among the countries as regards medical conditions that legally affect driving ability. This article discusses various assessment guidelines for dizzy patients. These range from a total absence of specified binding requirements in Finland or regulations open to clinical interpretation in Switzerland, to inappropriately strict regulations in Germany. We focus on requirements for patients with vestibular disorders in Germany which have been in force since 2014. These guidelines stipulate that for group 1 driving licence (private cars < 3.5 t, motorbikes): (1) patients with Menière’s disease (attacks without prodromes) must have had no attacks for 2 years before it is possible to drive again. (2) Patients with vestibular migraine without prodromes must not have had any attacks for 3 years. For a group 1 and group 2 driving licence (“professional driver”): (3) patients with bilateral vestibulopathy as a rule are considered to have a driving disability. Similarly, strict restrictions have been formulated for ocular motor disorders such as downbeat and upbeat nystagmus and for patients with functional (psychosomatic) forms of dizziness such as phobic postural vertigo. The authors represent a working group of the European Dizzynet focusing on the topic “fitness to drive with vertigo and balance disorders”. They agree that European guidelines must be revised and harmonized, for some are too strict and the required dizziness-free intervals are too long; others must be revised, for they are too lax. A common European standard is needed.
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| 5. |
- Lindstrand, Anna, et al.
(författare)
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From cytogenetics to cytogenomics : whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
- 2019
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Ingår i: Genome Medicine. - : BMC. - 1756-994X. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundSince different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.MethodsWe analyzed three cohorts with short-read WGS: (i) a retrospective cohort with validated copy number variants (CNVs) (cohort 1, n=68), (ii) individuals referred for monogenic multi-gene panels (cohort 2, n=156), and (iii) 100 prospective, consecutive cases referred to our center for CMA (cohort 3). Bioinformatic tools developed include FindSV, SVDB, Rhocall, Rhoviz, and vcf2cytosure.ResultsFirst, we validated our structural variant (SV)-calling pipeline on cohort 1, consisting of three trisomies and 79 deletions and duplications with a median size of 850kb (min 500bp, max 155Mb). All variants were detected. Second, we utilized the same pipeline in cohort 2 and analyzed with monogenic WGS panels, increasing the diagnostic yield to 8%. Next, cohort 3 was analyzed by both CMA and WGS. The WGS data was processed for large (>10kb) SVs genome-wide and for exonic SVs and SNVs in a panel of 887 genes linked to intellectual disability as well as genes matched to patient-specific Human Phenotype Ontology (HPO) phenotypes. This yielded a total of 25 pathogenic variants (SNVs or SVs), of which 12 were detected by CMA as well. We also applied short tandem repeat (STR) expansion detection and discovered one pathologic expansion in ATXN7. Finally, a case of Prader-Willi syndrome with uniparental disomy (UPD) was validated in the WGS data.Important positional information was obtained in all cohorts. Remarkably, 7% of the analyzed cases harbored complex structural variants, as exemplified by a ring chromosome and two duplications found to be an insertional translocation and part of a cryptic unbalanced translocation, respectively.ConclusionThe overall diagnostic rate of 27% was more than doubled compared to clinical microarray (12%). Using WGS, we detected a wide range of SVs with high accuracy. Since the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.
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| 6. |
- Magnan, Jacques, et al.
(författare)
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European Position Statement on Diagnosis, and Treatment of Meniere's Disease
- 2018
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Ingår i: Journal of International Advanced Otology. - : AVES Publishing Co.. - 1308-7649 .- 2148-3817. ; 14:2, s. 317-321
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Tidskriftsartikel (refereegranskat)abstract
- Meniere Disease keeps challenges in its diagnosis and treatment since was defined by Prosper Meniere at the beginning of 19th Century. Several classifications and definition were made until now and speculations still exist on its etiology. As the etiology remains speculative the treatment models remain in discussion also. The European Academy of Otology and Neurotology Vertigo Guidelines Study Group intended to work on the diagnosis and treatment of Meniere's disease and created the European Positional Statement Document also by resuming the consensus studies on it. The new techniques on diagnosis are emphasized as well as the treatment models for each stage of the disease are clarified by disregarding the dilemmas on its treatment. The conservative, noninvasive and invasive therapeutic models are highlighted.
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| 7. |
- Magnusson, Mans, et al.
(författare)
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Bayesian leave-one-out cross-validation for large data
- 2019
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Ingår i: 36th International Conference on Machine Learning, ICML 2019. ; 2019-June, s. 7505-7525
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Konferensbidrag (refereegranskat)abstract
- Model inference, such as model comparison, model checking, and model selection, is an important part of model development. Leave-one-out cross-validation (LOO-CV) is a general approach for assessing the generalizability of a model, but unfortunately, LOO-CV does not scale well to large datasets. We propose a combination of using approximate inference techniques and probability-proportional-to-size-sampling (PPS) for fast LOO-CV model evaluation for large data. We provide both theoretical and empirical results showing good properties for large data.
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| 8. |
- Strupp, Michael, et al.
(författare)
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Acute unilateral vestibulopathy/vestibular neuritis : Diagnostic criteria
- 2022
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Ingår i: Journal of Vestibular Research: Equilibrium and Orientation. - 0957-4271. ; 32:5, s. 389-406
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the diagnostic criteria for Acute Unilateral Vestibulopathy (AUVP), a synonym for vestibular neuritis, as defined by the Committee for the Classification of Vestibular Disorders of the Bárány Society. AUVP manifests as an acute vestibular syndrome due to an acute unilateral loss of peripheral vestibular function without evidence for acute central or acute audiological symptoms or signs. This implies that the diagnosis of AUVP is based on the patient history, bedside examination, and, if necessary, laboratory evaluation. The leading symptom is an acute or rarely subacute onset of spinning or non-spinning vertigo with unsteadiness, nausea/vomiting and/or oscillopsia. A leading clinical sign is a spontaneous peripheral vestibular nystagmus, which is direction-fixed and enhanced by removal of visual fixation with a trajectory appropriate to the semicircular canal afferents involved (generally horizontal-torsional). The diagnostic criteria were classified by the committee for four categories: 1. 'Acute Unilateral Vestibulopathy', 2. 'Acute Unilateral Vestibulopathy in Evolution', 3. 'Probable Acute Unilateral Vestibulopathy' and 4. 'History of Acute Unilateral Vestibulopathy'. The specific diagnostic criteria for these are as follows: 'Acute Unilateral Vestibulopathy': A) Acute or subacute onset of sustained spinning or non-spinning vertigo (i.e., an acute vestibular syndrome) of moderate to severe intensity with symptoms lasting for at least 24 hours. B) Spontaneous peripheral vestibular nystagmus with a trajectory appropriate to the semicircular canal afferents involved, generally horizontal-torsional, direction-fixed, and enhanced by removal of visual fixation. C) Unambiguous evidence of reduced VOR function on the side opposite the direction of the fast phase of the spontaneous nystagmus. D) No evidence for acute central neurological, otological or audiological symptoms. E) No acute central neurological signs, namely no central ocular motor or central vestibular signs, in particular no pronounced skew deviation, no gaze-evoked nystagmus, and no acute audiologic or otological signs. F) Not better accounted for by another disease or disorder. 'Acute Unilateral Vestibulopathy in Evolution': A) Acute or subacute onset of sustained spinning or non-spinning vertigo with continuous symptoms for more than 3 hours, but not yet lasting for at least 24 h hours, when patient is seen; B) - F) as above. This category is useful for diagnostic reasons to differentiate from acute central vestibular syndromes, to initiate specific treatments, and for research to include patients in clinical studies. 'Probable Acute Unilateral Vestibulopathy': Identical to AUVP except that the unilateral VOR deficit is not clearly observed or documented. 'History of acute unilateral vestibulopathy': A) History of acute or subacute onset of vertigo lasting at least 24 hours and slowly decreasing in intensity. B) No history of simultaneous acute audiological or central neurological symptoms. C) Unambiguous evidence of unilaterally reduced VOR function. D) No history of simultaneous acute central neurological signs, namely no central ocular motor or central vestibular signs and no acute audiological or otological signs. E) Not better accounted for by another disease or disorder. This category allows a diagnosis in patients presenting with a unilateral peripheral vestibular deficit and a history of an acute vestibular syndrome who are examined well after the acute phase. It is important to note that there is no definite test for AUVP. Therefore, its diagnosis requires the exclusion of central lesions as well as a variety of other peripheral vestibular disorders. Finally, this consensus paper will discuss other aspects of AUVP such as etiology, pathophysiology and laboratory examinations if they are directly relevant to the classification criteria.
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