FAEP und Morphometrie des Mesenzephalons bei Morbus Wilson

Hermann, W.; Günther, Patrick; Kühn, Heidi; Schneider, J. P.; Eichelkraut, S.; Villmann, T.; Strecker, Kerstin; Schwarz, J.; Wagner, A.

doi:10.1055/s-2007-986233

Cited by 8 publications

(9 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…With an incidence of 65% in the examined cohort, H1069Q is the most common point mutation . The allocation of imaging data to these three genotypes fails to identify a genotype–phenotype correlation . Nor does any cerebral MRI or nuclear medicine data support the clinical classification according to Konovalov.…”

Section: Discussionmentioning

confidence: 94%

“…In T1‐weighted images of patients in the neurological cohort, they frequently become manifest as slight signal changes in the basal ganglia and cerebellar regions (putamen, globus pallidus, substantia nigra, red nucleus, cerebellar nuclei) as well as in the pons . By contrast, there are regular occurrences of cerebral, cerebellar, putamenal, and mesencephalic atrophy in neurological patients compared to healthy subjects . In nonneurological Wilson's patients, slight cerebral and cerebellar atrophic changes are also regularly present, and there are single cases with slight signal changes in the substantia nigra and the red nucleus .…”

Section: Morphological Mri Findings In the Cnsmentioning

confidence: 99%

See 1 more Smart Citation

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Hermann

2014

Annals of the New York Academy of Sciences

View full text Add to dashboard Cite

Wilson's disease causes disturbances of the central nervous system, affecting it both directly through copper toxicity and indirectly subject to a copper-induced hepatopathy, resulting in morphological and physiological changes in brain structures that can be captured by means of magnetic resonance imaging (MRI), (123)I-β-CIT (2β-carbomethoxy-3β (4-iodophenyl)tropane)-SPECT (single photon emission computed tomography), (123)I-IBZM (benzamide)-SPECT and [(18)F]FDG -PET (fluorodeoxyglucose-positron emission tomography). MRI can reveal even slight morphological changes in non-neurological Wilson's patients. More marked findings in neurological Wilson's patients become evident in T1- and T2-weighted MRI. T1-weighted MRI predominantly detects atrophic changes, whereas T2-weighted MRI regularly records signal changes in the putamen. With the aid of these three nuclear-medicine examinations, nigrostriatal and metabolic disturbances are identified in neurological Wilson's patients only. Sufficient decoppering therapy prevents progression and even tends to improve symptoms. A correlation between any of the imaging findings in patients with the genetic phenotype and the incidence of the most common mutation H1069Q (homozygote or compound heterozygote) or other mutations could not be substantiated.

show abstract

Section: Discussionmentioning

confidence: 94%

Section: Morphological Mri Findings In the Cnsmentioning

confidence: 99%

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Hermann

2014

Annals of the New York Academy of Sciences

View full text Add to dashboard Cite

show abstract

“…Der Unterschied bildmorphologischer Befunde zur nicht neurologischen Verlaufsform ist signifikant hinsichtlich Befundausprägung und Häufigkeit (51). In T1-Wichtung besteht im Vergleich zu einer gesunden Probandenpopulation eine zerebrale, zerebelläre, putaminale und mesenzephale Atrophie (49,50,54,56). T2-gewichtete Signalveränderungen finden sich regelmäßig im Putamen, während andere basalganglionären Strukturen (Globus pallidus, Nc.…”

Section: Neurologische Verlaufsformenunclassified

Klassifikation des Morbus Wilson

Tinta¹,

Hermann²

2018

Nervenheilkunde

Self Cite

View full text Add to dashboard Cite

ZusammenfassungDer Morbus Wilson, eine autosomal-rezessive Störung des hepatischen Kupfertransporters ATP 7B, ist von einer hepatischen und extrapyramidalmotorischen Leitsymptomatik (EPS) mit variabler Manifestation vorrangig zwischen dem 5. und 45. Lebensjahr geprägt. Aufgrund dieser Symptomvielfalt ist eine frühzeitige Diagnosestellung erschwert.Durch eine Klassifikation werden klinische Varianten beschrieben, die eine Einordnung der Befundlage ermöglicht. Berücksichtigt werden das Manifestationsalter, die pathogenetische Entwicklung und vorherrschende Symptomatik. Weitere Einteilungen charakterisieren spezielle Befundmuster der Bildgebung (cMRT, SPECT, PET), der Feinmotorik und Elektrophysiologie. Damit ergibt sich die Möglichkeit einer besseren Zuordnung der Befunde hinsichtlich der Verdachtsdiagnose eines Morbus Wilson. Rückschlüsse auf den Genotyp lässt keine dieser Klassifikationen zu.

show abstract

“…The EIPs reflect the electro-physiological response to a clinical test system for sensoric and motor evoked potentials as described in [49] and [50], respectively.…”

Section: Exemplary Application -Classification Of Morbus Wilsonmentioning

confidence: 99%

Precision-Recall-Optimization in Learning Vector Quantization Classifiers for Improved Medical Classification Systems

Villmann

Kaden

Lange

et al. 2014

2014 IEEE Symposium on Computational Intelligence and Data Mining (CIDM)

View full text Add to dashboard Cite

Classification and decision systems in data analysis are mostly based on accuracy optimization. This criterion is only a conditional informative value if the data are imbalanced or false positive/negative decisions cause different costs. Therefore more sophisticated statistical quality measures are favored in medicine, like precision, recall etc. . Otherwise, most classification approaches in machine learning are designed for accuracy optimization. In this paper we consider variants of learning vector quantizers (LVQs) explicitly optimizing those advanced statistical quality measures while keeping the basic intuitive ingredients of these classifiers, which are the prototype based principle and the Hebbian learning. In particular we focus in this contribution particularly to precision and recall as important measures for use in medical applications. We investigate these problems in terms of precision-recall curves as well as receiver-operating characteristic (ROC) curves well-known in statistical classification and test analysis. With the underlying more general framework, we provide a principled alternatives traditional classifiers, such that a closer connection to statistical classification analysis can be drawn.

show abstract

FAEP und Morphometrie des Mesenzephalons bei Morbus Wilson

Cited by 8 publications

References 1 publication

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Klassifikation des Morbus Wilson

Precision-Recall-Optimization in Learning Vector Quantization Classifiers for Improved Medical Classification Systems

Contact Info

Product

Resources

About