Treffer 1 - 9 von insgesamt 9
Mental welfare
2017 Band 20, Heft 1, Seite(n) 8–13
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2017-09-14 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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Mental welfare
2017 Band 17, Heft 1, Seite(n) 1–11
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2017-09-14 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.
2024
Abstract: While motor and psychiatric phenotypes in idiopathic dystonia are increasingly well understood, a few studies have examined the rate, type, and temporal pattern of other clinical co-morbidities in dystonia. Here, we determine the rates of clinical ... ...
| Abstract | While motor and psychiatric phenotypes in idiopathic dystonia are increasingly well understood, a few studies have examined the rate, type, and temporal pattern of other clinical co-morbidities in dystonia. Here, we determine the rates of clinical diagnoses across 13 broad systems-based diagnostic groups, comparing an overall idiopathic dystonia cohort, and sub-cohorts of cervical dystonia, blepharospasm, and dystonic tremor, to a matched-control cohort. Using the SAIL databank, we undertook a longitudinal population-based cohort study (January 1st 1994-December 31st 2017) using anonymised electronic healthcare records for individuals living in Wales (UK), identifying those diagnosed with dystonia through use of a previously validated algorithm. Clinical co-morbid diagnoses were identified from primary health care records, with a 10% prevalence threshold required for onward analysis. Using this approach, 54,166 dystonia cases were identified together with 216,574 matched controls. Within this cohort, ten of the main ICD-10 diagnostic codes exceeded the 10% prevalence threshold over the 20-year period (infection, neurological, respiratory, gastrointestinal, genitourinary, dermatological, musculoskeletal, circulatory, neoplastic, and endocrinological). In the overall dystonia cohort, musculoskeletal (aOR: 1.89, aHR: 1.74), respiratory (aOR: 1.84; aHR: 1.65), and gastrointestinal (aOR: 1.72; aHR: 1.6) disorders had the strongest associations both pre- and post-dystonia diagnosis. However, variation in the rate of association of individual clinical co-morbidities was observed across the cervical, blepharospasm, and tremor dystonia groups. This study suggests an increased rate of specific co-morbid clinical disorders both pre- and post-dystonia diagnosis which should be considered during clinical assessment of those with dystonia to enable optimum symptomatic management. |
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| Sprache | Englisch |
| Erscheinungsdatum | 2024-03-21 |
| Erscheinungsland | Germany |
| Dokumenttyp | Journal Article |
| ZDB-ID | 187050-6 |
| ISSN | 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X |
| ISSN (online) | 1432-1459 |
| ISSN | 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X |
| DOI | 10.1007/s00415-024-12284-6 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Ui II Zs.40: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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2022 Band 29, Heft 12, Seite(n) 3513–3527
Abstract: Background and purpose: Although psychiatric diagnoses are recognized in idiopathic dystonia, no previous studies have examined the temporal relationship between idiopathic dystonia and psychiatric diagnoses at scale. Here, we determine rates of ... ...
| Abstract | Background and purpose: Although psychiatric diagnoses are recognized in idiopathic dystonia, no previous studies have examined the temporal relationship between idiopathic dystonia and psychiatric diagnoses at scale. Here, we determine rates of psychiatric diagnoses and psychiatric medication prescription in those diagnosed with idiopathic dystsuponia compared to matched controls. Methods: A longitudinal population-based cohort study using anonymized electronic health care data in Wales (UK) was conducted to identify individuals with idiopathic dystonia and comorbid psychiatric diagnoses/prescriptions between 1 January 1994 and 31 December 2017. Psychiatric diagnoses/prescriptions were identified from primary and secondary health care records. Results: Individuals with idiopathic dystonia (n = 52,589) had higher rates of psychiatric diagnosis and psychiatric medication prescription when compared to controls (n = 216,754, 43% vs. 31%, p < 0.001; 45% vs. 37.9%, p < 0.001, respectively), with depression and anxiety being most common (cases: 31% and 28%). Psychiatric diagnoses predominantly predated dystonia diagnosis, particularly in the 12 months prior to diagnosis (incidence rate ratio [IRR] = 1.98, 95% confidence interval [CI] = 1.9-2.1), with an IRR of 12.4 (95% CI = 11.8-13.1) for anxiety disorders. There was, however, an elevated rate of most psychiatric diagnoses throughout the study period, including the 12 months after dystonia diagnosis (IRR = 1.96, 95% CI = 1.85-2.07). Conclusions: This study suggests a bidirectional relationship between psychiatric disorders and dystonia, particularly with mood disorders. Psychiatric and motor symptoms in dystonia may have common aetiological mechanisms, with psychiatric disorders potentially forming prodromal symptoms of idiopathic dystonia. |
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| Mesh-Begriff(e) | Humans ; Dystonia ; Cohort Studies ; Dystonic Disorders/complications ; Mental Disorders/psychology ; Comorbidity |
| Sprache | Englisch |
| Erscheinungsdatum | 2022-09-11 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1280785-0 |
| ISSN | 1468-1331 ; 1351-5101 ; 1471-0552 |
| ISSN (online) | 1468-1331 |
| ISSN | 1351-5101 ; 1471-0552 |
| DOI | 10.1111/ene.15530 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 4738: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MO 592: Hefte anzeigen |
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2022 Band 2022, Seite(n) 5503505
Abstract: BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first reported ...
| Abstract | BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first reported family with a whole BAP1 gene deletion. This report also adds to the emerging evidence that the rhabdoid subtype of meningioma is a part of the clinical spectrum of this tumour predisposition syndrome. |
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| Sprache | Englisch |
| Erscheinungsdatum | 2022-09-13 |
| Erscheinungsland | United States |
| Dokumenttyp | Case Reports |
| ZDB-ID | 2664417-4 |
| ISSN | 2090-6552 ; 2090-6544 |
| ISSN (online) | 2090-6552 |
| ISSN | 2090-6544 |
| DOI | 10.1155/2022/5503505 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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2021 Band 29, Heft 1, Seite(n) 91–104
Abstract: Background and purpose: Accurate epidemiological information is essential for the improved understanding of dystonia syndromes, as well as better provisioning of clinical services and providing context for diagnostic decision-making. Here, we determine ... ...
| Abstract | Background and purpose: Accurate epidemiological information is essential for the improved understanding of dystonia syndromes, as well as better provisioning of clinical services and providing context for diagnostic decision-making. Here, we determine epidemiological, social deprivation, and mortality characteristics of adult-onset idiopathic dystonia in the Welsh population. Methods: A retrospective population-based cohort study using anonymized electronic health care data in Wales was conducted to identify individuals with dystonia between 1 January 1994 and 31 December 2017. We developed a case-ascertainment algorithm to determine dystonia incidence and prevalence, as well as characterization of the dystonia cohort, based on social deprivation and mortality. Results: The case-ascertainment algorithm (79% sensitivity) identified 54,966 cases; of these cases, 41,660 had adult-onset idiopathic dystonia (≥20 years). Amongst the adult-onset form, the median age at diagnosis was 41 years, with males significantly older at time of diagnosis compared to females. Prevalence rates ranged from 0.02% in 1994 to 1.2% in 2017. The average annual incidence was 87.7/100,000/year, increasing from 49.9/100,000/year (1994) to 96.21/100,000/year (2017). In 2017, people with dystonia had a similar life expectancy to the Welsh population. Conclusions: We have developed a case-ascertainment algorithm, supported by the introduction of a neurologist-reviewed validation cohort, providing a platform for future population-based dystonia studies. We have established robust population-level prevalence and incidence values for adult-onset idiopathic forms of dystonia, with this reflecting increasing clinical recognition and identification of causal genes. Underlying causes of death mirrored those of the general population, including circulatory disorders, respiratory disorders, cancers, and dementia. |
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| Mesh-Begriff(e) | Adult ; Cohort Studies ; Dystonia/epidemiology ; Dystonic Disorders/epidemiology ; Female ; Humans ; Male ; Retrospective Studies ; Social Deprivation |
| Sprache | Englisch |
| Erscheinungsdatum | 2021-10-15 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1280785-0 |
| ISSN | 1468-1331 ; 1351-5101 ; 1471-0552 |
| ISSN (online) | 1468-1331 |
| ISSN | 1351-5101 ; 1471-0552 |
| DOI | 10.1111/ene.15114 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 4738: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MO 592: Hefte anzeigen |
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2004 Band 21, Heft 3, Seite(n) 965–972
Abstract: A subject of increasing importance in magnetic resonance imaging (MRI) is the analysis of intersubject structural differences, particularly when comparing groups of subjects with different conditions or diagnoses. On the other hand, determining ... ...
| Abstract | A subject of increasing importance in magnetic resonance imaging (MRI) is the analysis of intersubject structural differences, particularly when comparing groups of subjects with different conditions or diagnoses. On the other hand, determining structural homogeneity across subjects using voxel-based morphological (VBM) methods has become even more important to investigators who test for group brain activation using functional magnetic resonance images (fMRI) or positron emission tomography (PET). In the absence of methods that evaluate structural differences, one does not know how much reliability to assign to the functional differences. Here, we describe a voxel-based method for quantitatively assessing the homogeneity of tissues from structural magnetic resonance images of groups. Specifically, this method determines the homogeneity of gray matter for a group of subjects. Homogeneity probability maps (HPMs) of a given tissue type (e.g., gray matter) are generated by using a confidence interval based on binomial distribution. These maps indicate for each voxel the probability that the tissue type is gray for the population being studied. Therefore, HPMs can accompany functional analyses to indicate the confidence one can assign to functional difference at any given voxel. In this paper, examples of HPMs generated for a group of control subjects are shown and discussed. The application of this method to functional analysis is demonstrated. |
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| Mesh-Begriff(e) | Adult ; Algorithms ; Brain/physiology ; Brain Mapping/methods ; Cerebrovascular Circulation/physiology ; Female ; Humans ; Image Processing, Computer-Assisted ; Individuality ; Magnetic Resonance Imaging/statistics & numerical data ; Male ; Nonlinear Dynamics ; Oxygen/blood ; Probability Theory ; Reproducibility of Results |
| Chemische Substanzen | Oxygen (S88TT14065) |
| Sprache | Englisch |
| Erscheinungsdatum | 2004-03 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. |
| ZDB-ID | 1147767-2 |
| ISSN | 1095-9572 ; 1053-8119 |
| ISSN (online) | 1095-9572 |
| ISSN | 1053-8119 |
| DOI | 10.1016/j.neuroimage.2003.10.038 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3664: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MO 7: Hefte anzeigen |
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2020 Band 4, Heft 6, Seite(n) 1131–1144
Abstract: First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations ...
| Abstract | First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM. Combining genomic data from the families reported herein with aggregated published data sets resulted in 130 germline RUNX1 families, which allowed us to investigate whether specific germline mutation characteristics (type, location) could explain the large phenotypic heterogeneity between patients with familial platelet disorder and different HMs. Comparing the somatic mutational signatures between the available familial (n = 35) and published sporadic (n = 137) RUNX1-mutated AML patients showed enrichment for somatic mutations affecting the second RUNX1 allele and GATA2. Conversely, we observed a decreased number of somatic mutations affecting NRAS, SRSF2, and DNMT3A and the collective genes associated with CHIP and epigenetic regulation. This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM. |
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| Mesh-Begriff(e) | Core Binding Factor Alpha 2 Subunit/genetics ; Epigenesis, Genetic ; Germ Cells ; Humans ; Leukemia, Myeloid, Acute/genetics ; Mutation ; Pedigree ; Phenotype |
| Chemische Substanzen | Core Binding Factor Alpha 2 Subunit ; RUNX1 protein, human |
| Sprache | Englisch |
| Erscheinungsdatum | 2020-03-25 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2915908-8 |
| ISSN | 2473-9537 ; 2473-9529 |
| ISSN (online) | 2473-9537 |
| ISSN | 2473-9529 |
| DOI | 10.1182/bloodadvances.2019000901 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 7153: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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2004 Band 130, Heft 1, Seite(n) 11–25
Abstract: In an earlier study, we reported that some perpetrators of domestic violence evidenced exaggerated fear-related responses to the panicogenic agent sodium lactate. In the current study, we employed positron emission tomography (PET) to investigate our ... ...
| Abstract | In an earlier study, we reported that some perpetrators of domestic violence evidenced exaggerated fear-related responses to the panicogenic agent sodium lactate. In the current study, we employed positron emission tomography (PET) to investigate our hypothesis that there are differences in the neural structures and/or pathways that mediate and control the expression of fear-induced aggression in perpetrators of domestic violence. Regional cerebral glucose metabolism was measured in eight male perpetrators of domestic violence who fulfilled DSM-III-R criteria for alcohol dependence (DV-ALC), 11 male participants who fulfilled DSM-III-R criteria for alcohol dependence and had no history of interpersonal aggression (ALC) and 10 healthy male participants who did not fulfill criteria for any DSM-III-R axis I diagnosis and had no history of interpersonal aggression (HCS). DV-ALC had a significantly lower mean glucose uptake in the right hypothalamus compared to ALC and HCS. Correlations were performed between measures of glucose utilization in the brain structures involved in fear-induced aggression. The comparison of DV-ALC to HCS and to ALC differed in six and seven comparisons, respectively, involving various cortical and subcortical structures. HCS and ALC differed between the left thalamus and the left posterior orbitofrontal cortex. These PET findings show that some perpetrators of domestic violence differ from control participants in showing lower metabolism in the right hypothalamus and decreased correlations between cortical and subcortical brain structures. A possible psychological covariate of these changes in regional activity might be fear-induced aggression, but this hypothesis should be examined in larger study groups that undergo provocation during imaging. |
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| Mesh-Begriff(e) | Adult ; Aggression/psychology ; Alcoholism/diagnosis ; Amygdala/metabolism ; Basal Ganglia/metabolism ; Cerebral Cortex/metabolism ; Depression/diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Domestic Violence/psychology ; Fear ; Fluorodeoxyglucose F18 ; Functional Laterality/physiology ; Humans ; Hypothalamus/metabolism ; Male ; Radiopharmaceuticals ; Surveys and Questionnaires ; Tomography, Emission-Computed |
| Chemische Substanzen | Radiopharmaceuticals ; Fluorodeoxyglucose F18 (0Z5B2CJX4D) |
| Sprache | Englisch |
| Erscheinungsdatum | 2004-01-15 |
| Erscheinungsland | Ireland |
| Dokumenttyp | Journal Article |
| ZDB-ID | 445361-x |
| ISSN | 1872-7123 ; 1872-7506 ; 0165-1781 ; 0925-4927 |
| ISSN (online) | 1872-7123 ; 1872-7506 |
| ISSN | 0165-1781 ; 0925-4927 |
| DOI | 10.1016/S0925-4927(03)00105-7 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 1541: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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