Dataset Information

Terminology in morphological anomalies of the cerebellum does matter.

ABSTRACT: Neuroimaging plays a key role in the diagnostic work-up of morphological abnormalities of the cerebellum. Diagnostic criteria for numerous morphological anomalies of the cerebellum are based on neuroimaging findings. Various morphological patterns have been described on neuroimaging including cerebellar hypoplasia, cerebellar agenesis, pontocerebellar hypoplasia, cerebellar dysplasia, cerebellar dysmorphia, and cerebellar atrophy. These patterns have specific differential diagnoses. The familiarity with the diagnostic criteria is mandatory for a correct diagnosis and a targeted work-up to avoid unnecessary investigations. A correct diagnosis is essential for early therapy, prognosis, and counseling of the affected children and their family.

SUBMITTER: Poretti A

PROVIDER: S-EPMC4552363 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Terminology in morphological anomalies of the cerebellum does matter.

Poretti Andrea A Boltshauser Eugen E

Cerebellum & ataxias 20150707

Neuroimaging plays a key role in the diagnostic work-up of morphological abnormalities of the cerebellum. Diagnostic criteria for numerous morphological anomalies of the cerebellum are based on neuroimaging findings. Various morphological patterns have been described on neuroimaging including cerebellar hypoplasia, cerebellar agenesis, pontocerebellar hypoplasia, cerebellar dysplasia, cerebellar dysmorphia, and cerebellar atrophy. These patterns have specific differential diagnoses. The familiar ...[more]

PMID: 26331051

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Project description:Abstract Objectives Despite the high frequency of segmentation anomalies in the human sacrum, their evolutionary and clinical implications remain controversial. Specifically, inconsistencies involving the classification and counting methods obscure accurate assessment of lumbosacral transitional vertebrae. Therefore, we aim to establish more reliable morphological and morphometric methods for differentiating between sacralizations and lumbarizations in clinical and paleontological contexts. Materials and Methods Using clinical CT data from 145 individuals aged 14–47 years, vertebral counts and the spatial relationship between the sacrum and adjoining bony structures were assessed, while the morphological variation of the sacrum was assessed using geometric morphometrics based on varied landmark configurations. Results The prevalence of lumbosacral and sacrococcygeal segmentation anomalies was 40%. Lumbarizations and sacralizations were reliably distinguishable based on the spatial relationship between the iliac crest and the upward or downward trajectory of the linea terminalis on the sacrum. Different craniocaudal orientations of the alae relative to the corpus of the first sacral vertebra were also reflected in the geometric morphometric analyses. The fusion of the coccyx (32%) was frequently coupled with lumbarizations, suggesting that the six‐element sacra more often incorporate the coccyx rather than the fifth lumbar vertebra. Conclusions Our approach allowed the consistent identification of segmentation anomalies even in isolated sacra. Additionally, our outcomes either suggest that homeotic border shifts often affect multiple spinal regions in a unidirectional way, or that sacrum length is highly conserved perhaps due to functional constraints. Our results elucidate the potential clinical, biomechanical, and evolutionary significance of lumbosacral transitional vertebrae. Direct morphological comparison of lumbosacral segmentation anomalies, that is, sacralization (blue) and lumbarization (yellow).

Project description:ObjectivesChanging terminology for low-risk, screen-detected conditions has now been recommended by several expert groups in order to prevent overdiagnosis and reduce the associated harms of overtreatment. However, the effect of terminology on patients' preferences for management is not well understood. This review aims to synthesise existing studies on terminology and its impact on management decision making.DesignSystematic review.MethodsStudies were included that compared two or more terminologies to describe the same condition and measured the effect on treatment or management preferences and/or choices. Studies were identified via database searches from inception to April 2017, and from reference lists. Two authors evaluated the eligibility of studies with verification from the study team, extracted and crosschecked data, and assessed the risk of bias of included studies.ResultsOf the 1399 titles identified, seven studies, all of which included hypothetical scenarios, met the inclusion criteria. Six studies were quantitative and one was qualitative. Six of the studies were of high quality. Studies covered a diverse range of conditions: ductal carcinoma in situ (3), gastro-oesophageal reflux disease (1), conjunctivitis (1), polycystic ovary syndrome (1) and a bony fracture (1). The terminologies compared in each study varied based on the condition assessed. Based on a narrative synthesis of the data, when a more medicalised or precise term was used to describe the condition, it generally resulted in a shift in preference towards more invasive managements, and/or higher ratings of anxiety and perceived severity of the condition.ConclusionsDifferent terminology given for the same condition influenced management preferences and psychological outcomes in a consistent pattern in these studies. Changing the terminology may be one strategy to reduce patient preferences for aggressive management responses to low-risk conditions.Trial registration numberPROSPERO: CRD42016035643.

Project description:Differences in cerebellar structure have been identified in autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and developmental dyslexia. However, it is not clear if different cerebellar regions are involved in each disorder, and thus whether cerebellar anatomical differences reflect a generic developmental vulnerability or disorder-specific characteristics. To clarify this, we conducted an anatomic likelihood estimate (ALE) meta-analysis on voxel-based morphometry (VBM) studies which compared ASD (17 studies), ADHD (10 studies), and dyslexic (10 studies) participants with age-matched typically-developing (TD) controls. A second ALE analysis included studies in which the cerebellum was a region of interest (ROI). There were no regions of significantly increased gray matter (GM) in the cerebellum in ASD, ADHD, or dyslexia. Data from ASD studies revealed reduced GM in the inferior cerebellar vermis (lobule IX), left lobule VIIIB, and right Crus I. In ADHD, significantly decreased GM was found bilaterally in lobule IX, whereas participants with developmental dyslexia showed GM decreases in left lobule VI. There was no overlap between the cerebellar clusters identified in each disorder. We evaluated the functional significance of the regions revealed in both whole-brain and cerebellar ROI ALE analyses using Buckner and colleagues' 7-network functional connectivity map available in the SUIT cerebellar atlas. The cerebellar regions identified in ASD showed functional connectivity with frontoparietal, default mode, somatomotor, and limbic networks; in ADHD, the clusters were part of dorsal and ventral attention networks; and in dyslexia, the clusters involved ventral attention, frontoparietal, and default mode networks. The results suggest that different cerebellar regions are affected in ASD, ADHD, and dyslexia, and these cerebellar regions participate in functional networks that are consistent with the characteristic symptoms of each disorder.

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Terminology in morphological anomalies of the cerebellum does matter.

Publications

Terminology in morphological anomalies of the cerebellum does matter.

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