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2.
Ultraschall Med ; 44(5): 495-502, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37224875

ABSTRACT

PURPOSE: Transcranial sonography (TCS) magnetic resonance (MR) fusion imaging and digital image analysis are useful tools for the evaluation of various brain pathologies. This study aimed to compare the echogenicity of predefined brain structures in Huntington's disease (HD) patients and healthy controls by TCS-MR fusion imaging using Virtual Navigator and digitized image analysis. MATERIALS AND METHODS: The echogenicity of the caudate nucleus (CN), substantia nigra (SN), lentiform nucleus (LN), insula, and brainstem raphe (BR) evaluated by TCS-MR fusion imaging using digitized image analysis was compared between 21 HD patients and 23 healthy controls. The cutoff values of echogenicity indices for the CN, LN, insula, and BR with optimal sensitivity and specificity were calculated using receiver operating characteristic analysis. RESULTS: The mean echogenicity indices for the CN (67.0±22.6 vs. 37.9±7.6, p<0.0001), LN (110.7±23.6 vs. 59.7±11.1, p<0.0001), and insula (121.7±39.1 vs. 70.8±23.0, p<0.0001) were significantly higher in HD patients than in healthy controls. In contrast, BR echogenicity (24.8±5.3 vs. 30.1±5.3, p<0.001) was lower in HD patients than in healthy controls. The area under the curve was 90.9%, 95.5%, 84.1%, and 81.8% for the CN, LN, insula, and BR, respectively. The sensitivity and specificity were 86% and 96%, respectively, for the CN and 90% and 100%, respectively, for the LN. CONCLUSION: Increased CN, LN, and insula echogenicity and decreased BR echogenicity are typical findings in HD patients. The high sensitivity and specificity of the CN and LN hyperechogenicity in TCS-MR fusion imaging make them promising diagnostic markers for HD.

3.
Omega (Westport) ; 85(1): 4-22, 2022 May.
Article in English | MEDLINE | ID: mdl-32571138

ABSTRACT

The objective was to identify the attitudes of progressive neurological disease (PND) patients and their family members regarding end-of-life care, and their worries about dying. The sample included 327 participants. The Attitudes of Patients with PND to End-of-Life Care questionnaire was used to collect the data. Statistically significant differences in the assessment of attitudes towards end-of-life care between patients and family members were identified (p < 0.001). Family members more frequently favored patients being kept alive at any cost; patients more commonly wished to have their end of life under control. Respondents most frequently deferred to doctors when it came to decisions on treatment to keep patients alive. However, both patients and family members wanted patients to be able to decide on their treatment by leaving a written record of their previously stated wishes. The demands of patients and their families regarding end-of-life care should be documented in individual care plans.


Subject(s)
Terminal Care , Attitude , Cross-Sectional Studies , Family , Humans , Surveys and Questionnaires
4.
Folia Neuropathol ; 55(1): 67-72, 2017.
Article in English | MEDLINE | ID: mdl-28430294

ABSTRACT

The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI. DNA was isolated from peripheral blood leukocytes and tested for GRN gene mutations. A pathogenic splice donor site mutation, c.708+1G>A, was found in the GRN gene. MRI showed unilateral caudate nucleus atrophy. This report extends the evidence for phenotypic and neuropathological heterogeneity in FTLD spectrum disorders due to splicing mutations in the GRN gene. .


Subject(s)
Frontotemporal Lobar Degeneration/genetics , Intercellular Signaling Peptides and Proteins/genetics , Female , Frameshift Mutation , Humans , Middle Aged , Pedigree , Progranulins
5.
Ultrasound Med Biol ; 40(10): 2365-71, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25194454

ABSTRACT

Diagnosis of Parkinson's disease (PD) can be difficult in the early stages of the disease. The aim of the study described here was to assess the correlation between transcranial sonography (TCS) and (123)I-FP-CIT ([(123)I]ioflupane, N-ω-fluoropropyl-2ß-carbomethoxy-3ß-(4-[(123)I]iodophenyl)nortropane) SPECT (single photon emission computed tomography) findings and the diagnosis of PD. A total of 49 patients were enrolled in the study: 29 patients with PD, 7 patients with other parkinsonian syndromes, 11 patients with essential tremor and 2 with psychogenic movement disorder. Substantia nigra echogenicity was measured using TCS. SPECT was performed using DaTSCAN ([(123)I]ioflupane). TCS and SPECT findings were correlated in 84% of patients, with κ = 0.62 (95% confidence interval: 0.38-0.86). TCS-measured substantia nigra echogenicity and SPECT-measured striatal binding ratio were negatively correlated (r = -0.326, p = 0.003). TCS/SPECT sensitivity, specificity and positive and negative predictive values for the diagnosis of PD were 89.7%/96.6%, 60.0%/70.0%, 76.5%/82.4% and 80.0%/93.3%, respectively. Both positive TCS and SPECT findings correlated significantly with the diagnosis of PD (κ = 0.52, 95% confidence interval: 0.27-0.76, and κ = 0.69, 95% confidence interval: 0.49-0.90, respectively).


Subject(s)
Essential Tremor/diagnostic imaging , Parkinsonian Disorders/diagnostic imaging , Tomography, Emission-Computed, Single-Photon/methods , Ultrasonography, Doppler, Transcranial/methods , Adult , Aged , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Radiopharmaceuticals , Sensitivity and Specificity , Substantia Nigra/diagnostic imaging , Tropanes
6.
J Ultrasound Med ; 29(1): 37-42, 2010 Jan.
Article in English | MEDLINE | ID: mdl-20040773

ABSTRACT

OBJECTIVE: The aim of this study was to assess the correlation between substantia nigra (SN) echogenic features and area and the clinical symptoms in patients with Parkinson disease (PD). METHODS: Clinical examinations and transcranial sonographic evaluations of the SN were performed in 115 consecutive patients with PD. The presence of tremors, rigidity, bradykinesia, gait disorders, speech disorders, and hypomimia was evaluated according to the motor portion of the Unified Parkinson Disease Rating Scale. The Mann-Whitney U test, the Kruskal-Wallis test, analysis of variance, and multivariate analysis were applied when assessing statistical significance. RESULTS: An enlarged and hyperechoic SN existed in 84.0% of patients with bilateral rigidity but in only 70.6% of patients with unilateral rigidity (P < .05). Similarly, 85.0% of patients with bilateral bradykinesia in comparison with 65.7% of patients with unilateral bradykinesia had an enlarged and hyperechoic SN (P < .05). A significant correlation was shown between the SN echogenicity and area (r = 0.705; P < .01). Conclusions. An enlarged and hyperechoic SN seems to be a marker of structural involvement of the SN in patients with PD. This structural involvement is expressed more in patients with bilateral rigidity and bradykinesia.


Subject(s)
Parkinson Disease/diagnostic imaging , Substantia Nigra/diagnostic imaging , Ultrasonography, Doppler, Transcranial/methods , Aged , Female , Humans , Male , Reproducibility of Results , Sensitivity and Specificity , Statistics as Topic
7.
Article in English | MEDLINE | ID: mdl-19219216

ABSTRACT

BACKGROUND: Transcranial sonography (TCS) in the B-mode has the ability to image, infratentorial and supratentorial brain structures. For this reason, it has potential use in the diagnosis and differential diagnosis of various intracranial pathologies. METHODS AND RESULTS: The authors reviewed the contribution of TCS to the differentiation of a number of neurodegenerative diseases: in parkinsonian syndromes, TCS can evaluate echogenicity changes in specific structures such as the hyperechogenic area of the substantia nigra (SN) in Parkinson's disease and the hyperechogenic caudate nucleus in Huntington's disease as well as the hyperechogenic lentiform nucleus (LN) in dystonia and Wilson's disease. In parkinson-plus syndromes, TCS may detect changes in width of the third ventricle and of the frontal horns of the lateral ventricle. The hyperechogenic SN can also be used in healthy populations as a marker of subclinical injury to the nigrostriatal system. CONCLUSION: TCS is a quick, safe and non-invasive method. It could be helpful in differentiation between several movement disorders together with clinical examination and other neuroimaging methods.


Subject(s)
Echoencephalography , Movement Disorders/diagnostic imaging , Neurodegenerative Diseases/diagnostic imaging , Caudate Nucleus/diagnostic imaging , Cerebral Ventricles/diagnostic imaging , Corpus Striatum/diagnostic imaging , Diagnosis, Differential , Humans , Parkinson Disease/diagnostic imaging , Substantia Nigra/diagnostic imaging
8.
Ultrasound Med Biol ; 33(9): 1347-52, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17544567

ABSTRACT

The aim of this study was to evaluate inter-reader, intra-investigator and inter-investigator reproducibility and correlations in the assessment of substantia nigra (SN) echogenicity and area measurement by a physician-sonographer (PS), a sonographic laboratory assistant (SLA) and a physician without sonographic experience (PN). A total of 22 patients with extrapyramidal symptoms were examined using transcranial sonography (TCS). SN images were encoded and evaluated by the three readers. A second TCS examination was performed after 7+/-2 d. A second investigator performed TCS examination 1 mo later. Spearman rank correlation and Pearson's correlation coefficient were used when assessing the agreement between readers. All three readers identified the same 15 patients with SN echogenicity III or more. Inter-reader SN echogenicity and area measurement correlations were r=0.55 to 0.82 and r=0.31 to 0.74 between PS and SLA and r=0.55 to 0.77 and 0.49 to 0.62 between PS and PN, respectively (p<0.05 in all cases). Intra-reader echogenicity and area measurement correlations (r=0.85 to 0.96 and r=0.51 to 0.69) were statistically significant only for PS (p<0.001). All intra- and inter-investigator correlations of SN area measurement (r=0.69 to 0.88 and r=0.5 to 0.61) and SN echogenicity (r=0.64 to 0.92 and r=0.51 to 0.69) were statistically significant (p<0.05). Semiquantitative evaluation of SN echogenicity and area using TCS is highly dependent on the experience of the sonographer. Only an experienced sonographer was able to produce very reproducible results with statistically significant correlations; SLA and PN intra-reader correlations were poor.


Subject(s)
Parkinsonian Disorders/diagnostic imaging , Substantia Nigra/diagnostic imaging , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Observer Variation , Parkinsonian Disorders/pathology , Reproducibility of Results , Substantia Nigra/pathology , Tremor/diagnostic imaging , Tremor/pathology , Ultrasonography, Doppler, Transcranial/methods
9.
J Neuroimaging ; 17(2): 164-7, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17441838

ABSTRACT

Substantia nigra (SN) was assessed by transcranial sonography (TCS) in 47 Parkinson's disease (PD) patients and in 39 healthy volunteers. A semiquantitative echogenicity scale was created with arbitrary values ranging from 1 to 5, zones with grade >or=3 and larger than 0.19 cm(2) were recorded as hyperechogenic SN. TCS examination of SN as a diagnostic test for PD in our study showed 87.2% sensitivity and 94.9% specificity.


Subject(s)
Parkinson Disease/diagnostic imaging , Substantia Nigra/diagnostic imaging , Ultrasonography, Doppler, Transcranial/methods , Adult , Aged , Aged, 80 and over , Chi-Square Distribution , Female , Humans , Male , Middle Aged
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