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Biomedical subjects

E Englund

Publications and source records attributed to E Englund.

At least 19 recordsLinked to original sources
PubMed2006

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.

OBJECTIVE: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). METHODS: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manifesting as either ALS or FTD with age-dependent penetrance were performed. Further analyses for ALS alone and FTD alone were performed. A parametric logarithm of odds (lod) score of 2.0 or greater was required for further study of a potential locus and crossover (haplotype) analysis. RESULTS: A new ALS-FTD locus was identified between markers D9s1870 and D9s1791 on human chromosome 9p21.3-p13.3. A maximum multipoint lod score of 3.00 was obtained between markers D9s1121 and D9s2154. Crossover analysis indicates this region covers approximately 21.8 cM, or 14Mb. CONCLUSIONS: A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD.

Aged↗
PubMed2006

Tumor extension in high-grade gliomas assessed with diffusion magnetic resonance imaging: values and lesion-to-brain ratios of apparent diffusion coefficient and fractional anisotropy.

PURPOSE: To determine whether the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) can distinguish tumor-infiltrated edema in gliomas from pure edema in meningiomas and metastases. MATERIAL AND METHODS: Thirty patients were studied: 18 WHO grade III or IV gliomas, 7 meningiomas, and 5 metastatic lesions. ADC and FA were determined from ROIs placed in peritumoral areas with T2-signal changes, adjacent normal appearing white matter (NAWM), and corresponding areas in the contralateral healthy brain. Values and lesion-to-brain ratios from gliomas were compared to those from meningiomas and metastases. RESULTS: Values and lesion-to-brain ratios of ADC and FA in peritumoral areas with T2-signal changes did not differ between gliomas, meningiomas, and metastases (P = 0.40, P = 0.40, P = 0.61, P = 0.34). Values of ADC and FA and the lesion-to-brain ratio of FA in the adjacent NAWM did not differ between tumor types (P = 0.74, P = 0.25, and P = 0.31). The lesion-to-brain ratio of ADC in the adjacent NAWM was higher in gliomas than in meningiomas and metastases (P = 0.004), but overlapped between tumor types. CONCLUSION: Values and lesion-to-brain ratios of ADC and FA in areas with T2-signal changes surrounding intracranial tumors and adjacent NAWM were not helpful for distinguishing pure edema from tumor-infiltrated edema when data from gliomas, meningiomas, and metastases were compared.

Adult↗
PubMed2006

Dynamic susceptibility contrast-enhanced perfusion magnetic resonance (MR) imaging combined with contrast-enhanced MR imaging in the follow-up of immunogene-treated glioblastoma multiforme.

PURPOSE: To assess the value of the combined use of dynamic susceptibility contrast-enhanced perfusion magnetic resonance imaging (MRI) and conventional contrast-enhanced MRI for the follow-up of treatment of glioblastoma multiforme (GBM). MATERIAL AND METHODS: 79 examinations were performed in six surgically and immunogene-treated patients and two surgically treated patients. Ratios of the relative cerebral blood volume (rCBV) in lesions and in the contralateral normal-appearing white matter were calculated. The regions with elevated rCBV were compared with those with contrast enhancement. Tissue specimens from surgical biopsies and autopsies were studied histopathologically. RESULTS: The lesion-to-normal rCBV ratios were high in the tumors prior to operation (7.3 to 18.2) as well as in the recurrent tumors (1.6 to 13.2). The volumes of the regions with elevated rCBV were similar to those with contrast enhancement in 63 of the 79 examinations. However, in 11 of 79 examinations, the regions with high rCBV were smaller than the regions with contrast enhancement ("mismatch"). In two samples from the immunogene-treated patients this was correlated with the histopathological finding of malignant tumor with numerous proliferating GBM vessels with multiple minimal lumina, sometimes thrombotized or ruptured. These vessels may have increased permeability with contrast enhancement not accompanied by increased microvascular volume. CONCLUSION: 1) Elevated rCBV on perfusion MRI corresponding to the contrast-enhancing lesion supports the diagnosis of recurrent malignant tumor. 2) A mismatch showing a volume of rCBV elevation smaller than that of contrast enhancement can be seen in particularly aggressive tumor growth and is thus not always a sign of reactive non-tumor changes. 3) The combination of perfusion MRI and conventional contrast MRI provides useful information in the follow-up of glioblastoma multiforme treatment.

Aged↗
PubMed2003

Evaluation of predictors of mortality in frontotemporal dementia-methodological aspects.

OBJECTIVES: To retrospectively evaluate pre-diagnostic clinical features (predictors) of mortality in frontotemporal dementia (FTD). The main aim was to investigate if there were indications against interpreting missing data as signs of absence. MATERIAL AND METHODS: 96 cases with FTD, here defined as Dementia in Pick's disease according to ICD-10. The predictors were behavioural/psychiatric features, language impairment and neurological deficits up to the date of diagnosis. Each predictor was rated as present (Yes), absent (No) or not recorded (Missing), and evaluated according to its distribution and mortality pattern: if a feature was not recorded because it was absent, the mortality of the Missing and the No-category should hypothetically be close. Statistical methods included Kaplan-Meier survival curves and Cox regression analyses. RESULTS: Neurological deficits and language impairments were frequently recorded as present or absent, while non-recordings were more prevalent among the behavioural/psychiatric features. Some features were excluded as predictors because they showed too little variation. Analyses of the survival pattern indicated that in some features, the observations of the Missing-category could be interpreted as absence of the symptoms. In other features these observations had to be regarded as truly missing. CONCLUSIONS: In the retrospective evaluation of predictors of mortality a method for treating missing data was applied. The interpretation of non-recordings as signs of absence was supported by the analyses of the survival patterns in some of the studied features. However, the study underscores the importance of systematic estimations of pre-diagnostic clinical features in dementia.

Aged↗
PubMed2003

Predictors of mortality in frontotemporal dementia: a retrospective study of the prognostic influence of pre-diagnostic features.

OBJECTIVES: To find associations between predictors and survival in frontotemporal dementia (FTD). METHODS: 96 patients with FTD, here defined as Dementia in Pick's disease, were studied. The predictors included psychiatric/behavioural features, language impairment and neurological deficits present up to the time of diagnosis. The influence on mortality was studied by means of Cox regression analyses. RESULTS: Most of the behavioural/psychiatric features were associated with longer survival. Among these features, anxiety and suicidal ideation were associated with a statistically significant decreased mortality. Semi-mutism/mutism and neurological deficits were associated with a statistically significant increased mortality. Analyses of the dementia-specific mortality strengthened the already significant results and revealed dysphagia as significantly related to increased mortality. CONCLUSIONS: Two groups of predictors with different influence on survival were identified in FTD. Most behavioural/psychiatric features were associated with longer survival. These features may indicate a slower disease progress and a better preserved cerebral function. By contrast, semi-mutism/mutism, neurological deficits and dysphagia were associated with shorter survival, indicating an aggressive, degenerative process.

Female↗
PubMed2003

Glial levels determine severity of white matter disease in Alzheimer's disease: a neuropathological study of glial changes.

The morphological components of cerebral white matter disease (WMD) were studied in 17 cases of clinically diagnosed dementia and neuropathologically verified Alzheimer's disease (AD) with concomitant WMD. The distribution of grey and white matter changes was evaluated and overall as well as regional severity was graded. Total glial numbers in frontal white matter were counted using a light microscope. Oligodendrocyte and astrocyte quantities as well as astrocytic reactivity were assessed from frontal and parietal lobe white matter using a computer assisted morphometric method. The AD-WMD group was compared with 10 nondemented age-matched controls. Astrocyte/oligodendrocyte ratio (AOR) was calculated, total glial counts and AOR were compared with severity of WMD, and Alzheimer encephalopathy grade was subjectively assessed. Astrocytic numbers, AOR and astrocytic reactivity proved to be significantly higher in the demented group, whereas oligodendrocytic and total glial counts were significantly lower. Furthermore, AOR proved to be positively correlated with severity of WMD, whereas no association was found with Alzheimer encephalopathy. We conclude that WMD in dementia, for example, of the type seen in AD, can easily be detected, measured and graded quantitatively, with AOR being a significant indicator of the severity of changes. This could serve as a tool for differentiating white matter pathologies in dementia and may be the basis for recognition of the mildest white matter changes with new imaging methods, and enable potential clinical intervention.

Aged↗
PubMed2000

Proton MR spectroscopy and preoperative diagnostic accuracy: an evaluation of intracranial mass lesions characterized by stereotactic biopsy findings.

BACKGROUND AND PURPOSE: MR imaging has made it easier to distinguish among the different types of intracranial mass lesions. Nevertheless, it is sometimes impossible to base a diagnosis solely on clinical and neuroradiologic findings, and, in these cases, biopsy must be performed. The purpose of this study was to evaluate the hypothesis that proton MR spectroscopy is able to improve preoperative diagnostic accuracy in cases of intracranial tumors and may therefore obviate stereotactic biopsy. METHODS: Twenty-six patients with intracranial tumors underwent MR imaging, proton MR spectroscopy, and stereotactic biopsy. MR spectroscopic findings were evaluated for the distribution pattern of pathologic spectra (NAA/Cho ratio < 1) across the lesion and neighboring tissue, for signal ratios in different tumor types, and for their potential to improve preoperative diagnostic accuracy. RESULTS: Gliomas and lymphomas showed pathologic spectra outside the area of contrast enhancement while four nonastrocytic circumscribed tumors (meningioma, pineocytoma, metastasis, and germinoma) showed no pathologic spectra outside the region of enhancement. No significant correlation was found between different tumor types and signal ratios. MR spectroscopy improved diagnostic accuracy by differentiating infiltrative from circumscribed tumors; however, diagnostic accuracy was not improved in terms of differentiating the types of infiltrative or circumscribed lesions. CONCLUSION: MR spectroscopy can improve diagnostic accuracy by differentiating circumscribed brain lesions from histologically infiltrating processes, which may be difficult or impossible solely on the basis of clinical or neuroradiologic findings.

Adult↗
PubMed2000

Helping Wisconsin women quit smoking: a successful collaboration.

The cost of treatments for tobacco dependence frequently presents a financial barrier to their use. To overcome such barriers, the Wisconsin Women's Health Foundation, the Wisconsin Bureau of Public Health, the McNeil Consumer Healthcare, and the University of Wisconsin Center for Tobacco Research and Intervention collaborated in an initiative to distribute nicotine patches to Wisconsin women at no cost. As a result of this collaborative effort, approximately 19,000 women received a 6-week course of Nicotrol Patches. To evaluate the effectiveness of this initiative, a sample of 500 recipients were contacted and surveyed by telephone 6 months after receiving their patches. Approximately 22% of these women reported total abstinence at 6 months, and another 77% reported they had reduced their smoking. At follow-up, women who had successfully quit rated their health status significantly better than women who were still smoking. More than 99% of respondents recommended that the program be repeated. Extrapolating the observed abstinence rate to the 19,000 patch recipients, an estimated 4000 Wisconsin women successfully quit smoking as a result of this program.

Administration, Cutaneous↗
PubMed1999

Paragangliomas of the spinal canal.

We report the clinical MRI and histopathological features of five consecutive cases of spinal paraganglioma. Three intradural tumours were found in the typical location (two at the L4, one at the S2 level); one intradural extramedullary tumour arose at an unusual level, from the ventral C2 root, and one extradural tumour growing along the L5 nerve root sheath had an aggressive growth pattern with early, local paraspinal recurrence and, eventually, intradural metastatic spread. This type of growth pattern has not been described previously. Paragangliomas of the spinal canal are more common than previously thought and can be located anywhere along the spine, although the lumbosacral level is the most common. Their appearance on MRI can not distinguish them from other tumours in the spinal canal. Even though paragangliomas in general are benign and slowly growing their growth pattern can vary and be more aggressive, to the point of metastatic spread.

Adult↗
PubMed1999

Neuronal loss in the brainstem and cerebellum--part of the normal aging process? A morphometric study of the vermis cerebelli and inferior olivary nucleus.

Based on the known age-related loss of Purkinje cells (PC) in the cerebellum, this study focuses on whether a marked loss of PC occurs in individuals of very high age. The inferior olive, which is intimately connected with the cerebellum anatomically as well as functionally, was also studied. The study group included 15 nondemented and basically healthy cases aged 32-104 years. Linear neuronal density was expressed as number of PC per millimeter tissue measured in the vermis and as neuronal numbers per square millimeter tissue in the inferior olive. The linear PC density clearly decreased with increasing age, R2 = 0.82 and p < .001. The inferior olive showed a small but insignificant age-related neuronal loss. We conclude that aging results in reduced PC density in the vermis cerebelli, further accentuated in the very late stages of life.

Adult↗
PubMed1999

Molecular genetic characterisation of frontotemporal dementia on chromosome 3.

We have previously localized a locus causing familial nonspecific dementia to the centromeric region of chromosome 3 in a pedigree from the Jutland area of Denmark. This pedigree shows anticipation. Here we present further analysis of these anticipation data which are suggestive of trinucleotide repeat expansion involvement. We also outline our strategies to clone the mutant gene via its putative associated trinucleotide repeat sequence.

Adult↗
PubMed1999

White matter changes in stroke patients. Relationship with stroke subtype and outcome.

White matter changes (WMC), detected by imaging techniques, are frequent in stroke patients. The aim of the study was to determine how WMC relate to stroke subtypes and to stroke outcome. We made a systematic Medline search for articles appearing with two of the following key words: either 'WMC or white matter lesions or leukoencephalopathy or leukoaraiosis' and 'stroke or cerebral infarct or cerebral hemorrhage or cerebrovascular disease or transient ischemic attack (TIA)'. WMC, as defined radiologically, are present in up to 44% of patients with stroke or TIA and in 50% of patients with vascular dementia. WMC are more frequent in patients with lacunar infarcts, deep intracerebral hemorrhages, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cerebral amyloid angiopathy. After an acute ischemic stroke, WMC are associated with a higher risk of death or dependency, recurrent stroke of any type, cerebral bleeding under anticoagulation, myocardial infarction, and poststroke dementia. WMC in stroke patients are often associated with small-vessel disease and lead to a higher risk of death, and poor cardiac and neurological outcome. However, several questions remain open and need further investigations.

Age Factors↗
PubMed1999

Tuberculosis control in the Caucasus: successes and constraints in DOTS implementation.

SETTING: The pilot projects for tuberculosis (TB) control, supported by the World Health Organization (WHO) and based on the WHO recommended control strategy, directly-observed treatment, short-course (DOTS) in the Caucasian countries (Armenia, Azerbaijan, Georgia). OBJECTIVE: To evaluate the results 2 years after the implementation of the pilot projects. METHODS: Analysis of data on case detection, sputum conversion and treatment outcome reported quarterly to the WHO from the Ministries of Health in each country. RESULTS: Since the establishment of the project, 1330, 764 and 4866 new cases and relapses, respectively, of TB have been detected in the pilot areas of Armenia, Azerbaijan and Georgia. In Armenia and Azerbaijan, respectively 46% and 57% of all cases were smear positive, whilst in Georgia, the corresponding figure was only 12%. After 3 months' treatment, 93% of new smear-positive patients had become smear-negative. The sputum conversion rate for relapses and other retreatment cases (failure, treatment interrupted) was 85%. In Armenia, 78.1% of new smear-positive patients were treated successfully (cured or completed treatment). The corresponding percentages for Azerbaijan and Georgia were 87.9% and 59.6%. Treatment success rates among retreatment cases was generally low, at respectively 46%, 64%, and 35%, in Armenia, Azerbaijan, and Georgia. CONCLUSION: The results of the implementation of the WHO TB control pilot projects in Armenia, Azerbaijan and Georgia suggest that the DOTS strategy is feasible in emergency situations in general, and in the Caucasus in particular.

Disease Notification↗
PubMed1998

A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease.

A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50 years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem. There were no vascular lesions and little amyloid angiopathy. All six affected cases showed the typical temporoparietal symptom pattern and other core symptoms of Alzheimer's disease, such as logoclonia, myoclonic twitchings and major motor seizures. Other predominant features were psychomotor slowness, increased muscular tension, a stiff stooped gait and a rapid loss of weight. The symptom pattern is convincingly explained by the consistent and severe involvement of cortical and central grey structures and is probably linked to the presenilin-1 gene mutation.

Alzheimer Disease↗
PubMed1998

Adrenoleukodystrophy--unusual CT and MR findings in two siblings. Case reports.

PURPOSE: To describe the unusual appearance of adrenoleukodystrophy (ALD) in MR imaging. MATERIAL AND METHODS: An analysis was made of MR findings, histopathology and clinical course in the cases of two brothers with ALD. RESULTS: The older brother presented with frontal contrast-enhanced lesions, including a cyst. These were initially misinterpreted as a tumour at both radiology and pathology. The correct diagnosis was made after the discovery of very-long-chain fatty acids in the blood. The younger brother presented initially with involvement of various segments of the corticospinal tract. CONCLUSION: It is important that the radiologist be aware of the variants of ALD in MR imaging so as to avoid diagnostic mistakes.

Adrenoleukodystrophy↗
PubMed1998

Neuropathology of white matter changes in Alzheimer's disease and vascular dementia.

Morphological white matter changes were investigated in clinically and neuropathologically diagnosed cases of Alzheimer's disease (AD; 60 cases) and vascular dementia (VaD; 40 cases). In 33 of 60 AD cases, a white matter disease (WMD) characterized by tissue rarefaction, mild gliosis and a non-amyloid small-vessel sclerosis occurred in the central, preferentially frontal deep white matter. The mean vessel density was significantly lower than in normal control case frontal white matter. The presence of WMD did not parallel the severity of grey matter Alzheimer encephalopathy. In 25 of 60 AD cases, white matter degeneration with signs of both condensation and rarefaction of tissue elements was seen subjacent to advanced cortical degeneration in the temporal lobes. It concurred with WMD in only 13 cases and was judged to be of anterograde, Wallerian type and not related to angiopathy. In VaD, similar changes occurred, accompanied by several types of focal and topographically related lesions. For diffuse white matter pathology of similar appearance in vascular and neurodegenerative disease with dementia, there may be various at least partly contrasting aetiologies, which can be differentiated by the presence of even minor focal lesions in some cases. For the recognition of such subtle variations in the spectrum of WMD, modern imaging techniques are crucial for detailed clinical diagnosis and attempts at therapeutic intervention.

Aged↗