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1.
Curr Med Imaging ; 20: e15734056293540, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39185656

RESUMO

BACKGROUND: Ovarian hemangioma is an extremely rare tumor with atypical clinical manifestations, often discovered incidentally during autopsy or surgery. Approximately 60 cases have been reported in the past, but no more than 10 cases have been investigated by MRI and ultrasound (US). CASE PRESENTATION: ln this paper, we reported a 51-year-old female patient with Ovarian Hemangioma who had no symptoms of abdominal pain, abnormal vaginal bleeding or discharge, or any other discomfort. Laboratory tests revealed an elevated serum carbohydrate antigen (CA125) of 48.99U/ml (reference range: 0-35U/ml). Multiparametric 3.0T magnetic resonance imaging (MRI) showed a cystic solid mass with a clear boundary and regular shape in the left ovarian area and minimal ascites in the abdominal cavity. The histological examination of the mass confirmed an ovarian hemangioma. CONCLUSION: The MRI findings of ovarian hemangiomas are highly similar to those observed in hepatic hemangiomas, emphasizing the distinctive radiological characteristics specific to this condition in the ovary. This paper presents an overview of the typical MRI findings associated with ovarian hemangioma, which holds great importance for accurate diagnosis and effective treatment.


Assuntos
Hemangioma , Imageamento por Ressonância Magnética , Neoplasias Ovarianas , Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Hemangioma/diagnóstico por imagem
2.
World J Clin Cases ; 12(8): 1474-1480, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38576812

RESUMO

BACKGROUND: Multilocular thymic cyst (MTC) is a rare mediastinal lesion which is considered to occur in the process of acquired inflammation. It is usually characterized by well-defined cystic density and is filled with transparent liquid. CASE SUMMARY: We report on a 39-year-old male with a cystic-solid mass in the anterior mediastinum. Computer tomography (CT) imaging showed that the mass was irregular with unclear boundaries. After injection of contrast agent, there was a slight enhancement of stripes and nodules. According to CT findings, it was diagnosed as thymic cancer. CONCLUSION: After surgery, MTC accompanied by bleeding and infection was confirmed by pathological examination. The main lesson of this case was that malignant thymic tumor and MTC of the anterior mediastinum sometimes exhibit similar CT findings. Caution is necessary in clinical work to avoid misdiagnosis.

3.
Curr Med Imaging ; 2023 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-37649288

RESUMO

BACKGROUND: Primary anorectal malignant melanoma (ARMM) is a rare tumor. It is often misdiagnosed as hemorrhoids, polyps or colorectal cancer due to the lack of specificity of their clinical symptoms and imaging manifestations. CASE PRESENTATION: In this study, we reported an 83-year-old female patient with ARMM. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) showed uneven thickening of the intestinal wall about 7.0 cm from the anal margin, and no typical T1 high signal was seen on MRI. Dual-energy spectral CT showed that the effective atomic number (Zeff) of the tumor and the iodine concentration in the arterial phase (AP) and venous phase (VP) were different from other rectal malignancies reported in the previous literature. Sigmoidoscopy showed a large polypoid mass approximately 7.0 cm from the anal verge. Immunohistochemical staining showed that about 60% of Melan A and HMB-45 were positive, S-100 protein and Ki-67 were positive, and the pathological diagnosis was ARMM. CONCLUSION: This was the first dual-energy spectral CT imaging report of ARMM. The Zeff and iodine concentration in the arterial phase and venous phase could help distinguish between ARMM and other rectal malignancies.

4.
Oncol Lett ; 26(2): 329, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37415633

RESUMO

Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1) modulates colorectal cancer (CRC) malignant behaviors and tumor immune escape. The present study aimed to explore the association of MALT1 with treatment response and survival time among patients with metastatic CRC (mCRC) after programmed cell death protein-1 (PD-1) inhibitor-based treatment. MALT1 from the blood samples of 75 patients with unresectable mCRC receiving PD-1 inhibitor-based treatment at baseline and after 2-cycle treatment, as well as 20 healthy controls (HCs), was detected by reverse transcription-quantitative PCR. In the patients with mCRC, the objective response rate (ORR), disease control rate (DCR), progression-free survival (PFS) and overall survival (OS) were calculated. MALT1 expression was elevated in patients with mCRC compared with that in HCs (P<0.001). In patients with mCRC, MALT1 expression was positively correlated with multiple (vs. single) metastasis (P=0.032) and peritoneum metastasis (P=0.029). MALT1 levels before treatment were decreased in ORR patients vs. non-ORR patients (P=0.043) and in DCR patients vs. non-DCR patients (P=0.007). Additionally, MALT1 expression was reduced after treatment compared with that before treatment (P<0.001). Meanwhile, MALT1 expression after treatment was notably decreased in ORR patients vs. non-ORR patients (P<0.001) and in DCR patients vs. non-DCR patients (P<0.001). Furthermore, a low MALT1 level before treatment was associated with longer PFS (P=0.030) and OS (P=0.025) times. Decreased MALT1 expression after treatment and a decline in MALT1 expression of >30% after treatment (ratio to MALT1 before treatment) (both P≤0.001) presented more significant associations with prolonged PFS and OS times. In conclusion, early low levels of blood MALT1 during therapy may predict an improved response to PD-1 inhibitor-based treatment and survival time in patients with mCRC.

6.
Eur Radiol ; 33(11): 7609-7617, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37266658

RESUMO

OBJECTIVE: To study the value of radiomics models based on plain and multiphase contrast-enhanced CT to predict Ki-67 expression in gastrointestinal stromal tumors (GISTs). METHODS: A total of 215 patients with GISTs were retrospectively analyzed, including 150 patients in one hospital as the training set and 65 patients in another hospital as the external verification set. The tumor at the largest level of CT images was delineated as the region of interest (ROI). The maximum diameter of the ROI was defined as the tumor size. A total of 851 radiomics features were extracted from each ROI by 3D Slicer Radiomics. After dimensionality reduction, three machine learning classification algorithms including logistic regression (LR), random forest (RF), and support vector machine (SVM) were used for Ki-67 expression prediction. Using a multivariable logistic model, a nomogram was established to predict the expression of Ki-67 individually. RESULTS: Delong tests showed that the SVM models had the highest accuracy in the arterial phase (Z value 0.217-1.139) and venous phase (Z value 0.022-1.396). For the plain phase, LR and SVM models had the highest accuracy (Z value 0.874-1.824, 1.139-1.763). For the delayed phase, LR models had the highest accuracy (Z value 0.056-1.824). For the combined phase, RF models had the highest accuracy (Z value 0.232-1.978). There was no significant difference among the above models for KI-67 expression prediction (Z value 0.022-1.978). A nomogram was developed with a C-index of 0.913 (95% CI, 0.878 to 0.956). CONCLUSIONS: Radiomics of both plain and enhanced CT images could accurately predict the expression of Ki-67 in GIST. For patients who were not suitable to use contrast agents, plain scan could be used as an alternative. CLINICAL RELEVANCE STATEMENT: CT radiomics could accurately predict the expression of Ki-67 in GIST, which has a great clinical value in reflecting the proliferative activity of tumor cells and helping determine whether a patient is suitable for adjuvant therapy with imatinib. KEY POINTS: • Radiomics of both plain and enhanced CT images could accurately predict the expression of Ki-67 in GIST. • For patients who were not suitable to use contrast agents, plain scan could be used as an alternative. • A radiomics nomogram was developed to allow personalized preoperative evaluation with high accuracy.


Assuntos
Tumores do Estroma Gastrointestinal , Humanos , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Antígeno Ki-67 , Meios de Contraste/farmacologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
7.
J Clin Pharm Ther ; 47(12): 2325-2334, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36495117

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Programmed cell death protein-1 (PD-1) inhibitors synergize apatinib for anti-tumour effect by regulating tumour microenvironment, vascular endothelial growth factor, hypoxia condition, immune response, etc. This study aimed to investigate the treatment efficacy and safety of camrelizumab (PD-1 inhibitor) plus apatinib as third-line or above therapy in metastatic colorectal cancer (mCRC) patients. METHODS: Totally, 64 unresectable mCRC patients receiving camrelizumab plus apatinib (N = 31) and apatinib (N = 33) were retrospectively enrolled. RESULTS: Disease control rate (80.6% vs. 57.6%) (P = 0.047) was elevated in camrelizumab plus apatinib group compared to apatinib group; however, objective response rate (22.6% vs. 6.1%) (P = 0.078) only showed an increasing trend but did not achieve statistical significance. Besides, the median (95% confidence interval [CI]) progressive-free survival (PFS) and overall survival (OS) were 6.9 (3.7-10.1) and 11.5 (7.7-15.3) months in camrelizumab plus apatinib group; meanwhile, the median (95% CI) PFS and OS were 3.6 (1.7-5.5) and 6.7 (5.0-8.4) months in the apatinib group. Additionally, PFS (P = 0.017) and OS (P = 0.006) were prolonged in camrelizumab plus apatinib group compared with apatinib group, which was confirmed by further multivariate Cox's proportional hazards regression analysis (hazard ratio [HR] = 0.340, P < 0.001 for PFS; HR = 0.271, P < 0.001 for OS). The incidence of total, grade 1-2, and grade 3-4 adverse events did not differ between groups (all P > 0.05). CONCLUSION: Camrelizumab (PD-1 inhibitor) plus apatinib achieves a better treatment efficacy than apatinib as third-line or above therapy with a good safety profile in mCRC patients.


Assuntos
Neoplasias do Colo , Neoplasias Retais , Humanos , Estudos Retrospectivos , Inibidores de Checkpoint Imunológico/efeitos adversos , Fator A de Crescimento do Endotélio Vascular , Microambiente Tumoral
8.
Front Oncol ; 12: 852726, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35463351

RESUMO

Purpose: To investigate whether the combination of radiomics derived from brain high-resolution T1-weighted imaging and automatic machine learning could diagnose subcortical ischemic vascular cognitive impairment with no dementia (SIVCIND) accurately. Methods: A total of 116 right-handed participants involving 40 SIVCIND patients and 76 gender-, age-, and educational experience-matched normal controls (NM) were recruited. A total of 7,106 quantitative features from the bilateral thalamus, hippocampus, globus pallidus, amygdala, nucleus accumbens, putamen, caudate nucleus, and 148 areas of the cerebral cortex were automatically calculated from each subject. Six methods including least absolute shrinkage and selection operator (LASSO) were utilized to lessen the redundancy of features. Three supervised machine learning approaches of logistic regression (LR), random forest (RF), and support vector machine (SVM) employing 5-fold cross-validation were used to train and establish diagnosis models, and 10 times 10-fold cross-validation was used to evaluate the generalization performance of each model. Correlation analysis was performed between the optimal features and the neuropsychological scores of the SIVCIND patients. Results: Thirteen features from the right amygdala, right hippocampus, left caudate nucleus, left putamen, left thalamus, and bilateral nucleus accumbens were included in the optimal subset. Among all the three models, the RF produced the highest diagnostic performance with an area under the receiver operator characteristic curve (AUC) of 0.990 and an accuracy of 0.948. According to the correlation analysis, the radiomics features of the right amygdala, left caudate nucleus, left putamen, and left thalamus were found to be significantly correlated with the neuropsychological scores of the SIVCIND patients. Conclusions: The combination of radiomics derived from brain high-resolution T1-weighted imaging and machine learning could diagnose SIVCIND accurately and automatically. The optimal radiomics features are mostly located in the right amygdala, left caudate nucleus, left putamen, and left thalamus, which might be new biomarkers of SIVCIND.

9.
J Clin Transl Hepatol ; 10(1): 63-71, 2022 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-35233374

RESUMO

BACKGROUND AND AIMS: The relationship between quantitative magnetic resonance imaging (MRI) imaging features and gene-expression signatures associated with the recurrence of hepatocellular carcinoma (HCC) is not well studied. METHODS: In this study, we generated multivariable regression models to explore the correlation between the preoperative MRI features and Golgi membrane protein 1 (GOLM1), SET domain containing 7 (SETD7), and Rho family GTPase 1 (RND1) gene expression levels in a cohort study including 92 early-stage HCC patients. A total of 307 imaging features of tumor texture and shape were computed from T2-weighted MRI. The key MRI features were identified by performing a multi-step feature selection procedure including the correlation analysis and the application of RELIEFF algorithm. Afterward, regression models were generated using kernel-based support vector machines with 5-fold cross-validation. RESULTS: The features computed from higher specificity MRI better described GOLM1 and RND1 gene-expression levels, while imaging features computed from lower specificity MRI data were more descriptive for the SETD7 gene. The GOLM1 regression model generated with three features demonstrated a moderate positive correlation (p<0.001), and the RND1 model developed with five variables was positively associated (p<0.001) with gene expression levels. Moreover, RND1 regression model integrating four features was moderately correlated with expressed RND1 levels (p<0.001). CONCLUSIONS: The results demonstrated that MRI radiomics features could help quantify GOLM1, SETD7, and RND1 expression levels noninvasively and predict the recurrence risk for early-stage HCC patients.

10.
J Clin Invest ; 131(1)2021 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-33393488

RESUMO

BACKGROUNDCisplatin is widely used to treat adult and pediatric cancers. It is the most ototoxic drug in clinical use, resulting in permanent hearing loss in approximately 50% of treated patients. There is a major need for therapies that prevent cisplatin-induced hearing loss. Studies in mice suggest that concurrent use of statins reduces cisplatin-induced hearing loss.METHODSWe examined hearing thresholds from 277 adults treated with cisplatin for head and neck cancer. Pretreatment and posttreatment audiograms were collected within 90 days of initiation and completion of cisplatin therapy. The primary outcome measure was a change in hearing as defined by the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE).RESULTSAmong patients on concurrent atorvastatin, 9.7% experienced a CTCAE grade 2 or higher cisplatin-induced hearing loss compared with 29.4% in nonstatin users (P < 0.0001). A mixed-effect model analysis showed that atorvastatin use was significantly associated with reduced cisplatin-induced hearing loss (P ≤ 0.01). An adjusted odds ratio (OR) analysis indicated that an atorvastatin user is 53% less likely to acquire a cisplatin-induced hearing loss than a nonstatin user (OR = 0.47; 95% CI, 0.30-0.78). Three-year survival rates were not different between atorvastatin users and nonstatin users (P > 0.05).CONCLUSIONSOur data indicate that atorvastatin use is associated with reduced incidence and severity of cisplatin-induced hearing loss in adults being treated for head and neck cancer.TRIAL REGISTRATIONClinicalTrials.gov identifier NCT03225157.FUNDINGFunding was provided by the Division of Intramural Research at the National Institute on Deafness and Other Communication Disorders (1 ZIA DC000079, ZIA DC000090).


Assuntos
Cisplatino/efeitos adversos , Neoplasias de Cabeça e Pescoço , Perda Auditiva , Ototoxicidade/epidemiologia , Idoso , Atorvastatina/administração & dosagem , Cisplatino/administração & dosagem , Feminino , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/epidemiologia , Perda Auditiva/induzido quimicamente , Perda Auditiva/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos
11.
Oncol Lett ; 20(5): 172, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32934739

RESUMO

Associations of metastasis-associated protein 1 (MTA1) expression with computed tomography (CT) features, pathology and prognosis of elderly patients with non-small cell lung cancer (NSCLC), and its clinical significance were explored. A total of 98 elderly patients with NSCLC were selected and underwent CT examination. The expression of MTA1 in carcinoma tissues and para-carcinoma normal tissues was detected via immunohistochemistry, and its associations with CT features, pathology and prognosis were analyzed. The results manifested that the expression of MTA1 in carcinoma tissues was significantly higher than that in para-carcinoma normal tissues, and it was associated with the degree of differentiation, stage and lymph node metastasis (P<0.05). Besides, the high expression of MTA1 was also related to the spicule sign, pleural indentation and lymph node metastasis (P<0.05) as well as the CT perfusion parameter capillary permeability (PMB) (P<0.05), but not to blood volume (BV), blood flow (BF) or time to peak (TTP). Moreover, the patients with high expression of MTA1 had significantly shorter survival time and a remarkably lower 5-year survival rate than those with low expression of MTA1 (P<0.05). In conclusion, MTA1 plays a certain role in the occurrence and development of NSCLC in elderly patients and has an association with their prognosis, which can provide references for the treatment and prognosis of NSCLC, with important clinical significance.

12.
Front Neurol ; 11: 194, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32265829

RESUMO

Background: Accurate diagnosis and timely treatment for posterior reversible encephalopathy syndrome (PRES) with atypical regions are very important in clinical practice. However, until now, little has been known about the clinical and MRI manifestations of this disease. Therefore, the aim of this study is to investigate the clinical and MRI features of PRES to promote clinical management and deepen our understanding of this disease. Materials and Methods: Data from six PRES patients with atypical regions were collected from our hospital. Data from another 550 cases were obtained by searching the PubMed, EMBASE and Web of Science databases with the keywords "posterior reversible encephalopathy syndrome" "PRES" "reversible posterior leukoencephalopathy" "RPLS" "hypertensive encephalopathy" "hyperperfusion encephalopathy" or "reversible posterior cerebral edema encephalopathy." The clinical and MRI features of these 556 cases were analyzed together. Results: A total of 305 patients were female, and 248 were male, with a median age of 34 years. The information on sex and age of three patients was not available. The most common symptom was headache (282/556, 50.7%), followed by altered mental status (243/556, 43.7%), seizures (233/556, 41.9%), visual disturbances (194/556, 34.9%), nausea/vomiting (130/556, 23.4%), and focal neurological deficits (101/556, 18.2%). Hypertension (425/556, 76.4%), renal diseases (152/556, 27.3%), immunosuppressant drugs (79/556, 14.2%), and chemotherapy/chemoradiotherapy (59/556, 10.6%) were the major predisposing factors. The atypical regions of the lesions were the cerebellum (331/556, 59.5%), basal ganglia (135/556, 24.3%), periventricular/deep white matter (125/556, 22.5%), pons (124/556, 22.3%), brainstem (115/556, 20.7%), thalamus (114/556, 20.5%), midbrain (48/556, 8.6%), spinal cord (33/556, 5.9%), and medulla (29/556, 5.2%). Additionally, the following typical regions were observed: occipital (278/556, 50.0%), parietal (234/556, 42.1%), frontal (150/556, 27.0%), and temporal (124/556, 22.3%) lobes. The major treatments were antihypertensives (358/515, 69.5%), antiepileptics/sedation (126/515, 24.5%), discontinuation/switching agents (67/515, 13.0%), and steroids (54/515, 10.5%). The median time of the clinical state improved and abnormal neuroimaging resolved is 2-3 weeks after appropriate treatment. Conclusion: The common symptoms of PRES with atypical regions include headaches, altered mental status, seizures, visual disturbances, nausea or vomiting, and focal neurological deficits. The frequent predisposing factors include hypertension, renal diseases, immunosuppressant drugs and chemotherapy/chemoradiotherapy. MRI features are mainly characterized by vasogenic edema in central zones always accompanied by typical regions. Most cases can be reversed in 2-3 weeks when promptly recognized and properly treated.

13.
Front Oncol ; 9: 980, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31632912

RESUMO

Purpose: To investigate whether a combination of radiomics and automatic machine learning applied to dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) of primary breast cancer can non-invasively predict axillary sentinel lymph node (SLN) metastasis. Methods: 62 patients who received a DCE-MRI breast scan were enrolled. Tumor resection and sentinel lymph node (SLN) biopsy were performed within 1 week after the DCE-MRI examination. According to the time signal intensity curve, the volumes of interest (VOIs) were delineated on the whole tumor in the images with the strongest enhanced phase. Datasets were randomly divided into two sets including a training set (~80%) and a validation set (~20%). A total of 1,409 quantitative imaging features were extracted from each VOI. The select K best and least absolute shrinkage and selection operator (Lasso) were used to obtain the optimal features. Three classification models based on the logistic regression (LR), XGboost, and support vector machine (SVM) classifiers were constructed. Receiver Operating Curve (ROC) analysis was used to analyze the prediction performance of the models. Both feature selection and models construction were firstly performed in the training set, then were further tested in the validation set by the same thresholds. Results: There is no significant difference between all clinical and pathological variables in breast cancer patients with and without SLN metastasis (P > 0.05), except histological grade (P = 0.03). Six features were obtained as optimal features for models construction. In the validation set, with respect to the accuracy and MSE, the SVM demonstrated the highest performance, with an accuracy, AUC, sensitivity (for positive SLN), specificity (for positive SLN) and Mean Squared Error (MSE) of 0.85, 0.83, 0.71, 1, 0.26, respectively. Conclusions: We demonstrated the feasibility of combining artificial intelligence and radiomics from DCE-MRI of primary tumors to predict axillary SLN metastasis in breast cancer. This non-invasive approach could be very promising in application.

14.
Medicine (Baltimore) ; 98(33): e16751, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415372

RESUMO

BACKGROUND: Biomechanical studies have demonstrated that cortical bone trajectory (CBT) screw can provide a 30% increase in uniaxial yield pullout load than pedicle screw (PS). In addition, the insertion torque of CBT screw is 1.71 times higher than that of PS. A meta-analysis was conducted to evaluate clinical results between CBT screw technique and PS technique in lumbar fusion surgery. METHODS: An extensive search of literature was performed in PubMed, Embase, the Cochrane library. The following outcomes were extracted: visual analog scale (VAS), Oswestry disabilities index (ODI), Japanese Orthopaedic Association (JOA) score, complications, fusion rates, hospital stay, incision length, blood loss, and operation time. Data analysis was conducted with RevMan 5.3 and STATA 12.0. RESULTS: A total of 12 studies were included in the final analysis. The results indicated that CBT group with less blood loss [P < .01], less hospital stay [P < .01], and less incision length [P < .01] than PS group. There were no significant differences between 2 groups in other clinical parameters and outcomes. CONCLUSION: CBT technique provided similar clinical outcomes and fusion rates compared to PS technique in lumbar fusion surgery. However, CBT technique provided additional benefits of less blood loss, less hospital stay, and less incision length.


Assuntos
Parafusos Ósseos , Degeneração do Disco Intervertebral/cirurgia , Vértebras Lombares , Fusão Vertebral/métodos , Fenômenos Biomecânicos , Humanos , Resultado do Tratamento
15.
Exp Ther Med ; 18(3): 1945-1952, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31452695

RESUMO

X-linked adrenoleukodystrophy (X-ALD) is the most frequent type of inherited demyelinating peroxisomal disease caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1) gene. The rate of early recognition and genetic diagnosis of X-ALD remains low due to its variable clinical manifestations. The present study summarized the clinical features Chinese X-ALD patients and performed a follow-up study to further precisely characterize this disease. A total of 10 patients diagnosed with X-ALD between 1994 and 2016 at Shandong Provincial Hospital Affiliated to Shandong University (Jinan, China) were included in the present study. Through reviewing their medical records and performing telephone follow-ups, the clinical features, biochemical laboratory data, brain images, treatments and long-term outcomes were retrospectively summarized. Mutation analysis of the ABCD1 gene was performed in certain patients. Most of the patients (8/10) had the childhood cerebral form of X-ALD. One patient presented with the olivo-ponto-cerebellar form, the rarest form of X-ALD. In all patients, brain magnetic resonance images revealed abnormalities with typical T2-weighted hyperintensity. Analysis of very long chain fatty acid revealed high plasma levels of hexacosanoic acid in all patients. Increased adrenocorticotropic hormone, decreased cortisol and neurophysiological manifestations were also observed. Three different mutations of the ABCD1 gene were identified in the 3 patients subjected to genotyping. During the follow-ups, most patients took neurotrophic drugs and received hydrocortisone replacement when required. One patient received a hematopoietic stem cell transplantation, but died 1 year following the transplantation. Chronic myelopathy and peripheral neuropathy progressed with time, gradually leading to a vegetative state or paralysis within several years of clinical symptom onset. In conclusion, male patients with adrenocortical insufficiency should be further investigated for X-ALD. Early detection is critical to prevent the progression of X-ALD with mutation analysis of ABCD1 the most accurate method to confirm diagnosis.

16.
Brain Behav ; 9(1): e01138, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30548431

RESUMO

BACKGROUND: To study the brain iron deposition and its relationships with cognitive impairment and sleep quality in primary insomnia (PI). METHODS: Thirty-five patients with PI and 35 volunteers underwent MRI scanning using high-resolution susceptibility-weighted imaging sequence. Bilateral anterior cingulate cortices, posterior cingulate cortex, hippocampus, caudate nucleus, globus pallidus, putamen, thalamus, red nucleus, substantia nigra, parietal cortex, and frontal white matter were selected as regions of interest. The phase shift values of the above areas were compared between the two groups. Partial correlations between phase shifts values and neuropsychological scale scores including Pittsburgh Sleep Quality Index, Insomnia Severity Index, Mini Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Activities of Daily Living Scale, and Clinical Dementia Rating of the PI patients were analyzed. RESULTS: Compared with the normal controls, the PI patients showed significant lower MMSE and MoCA scores and increased phase shift values in the left caudate nucleus, left putamen, left hippocampus, and bilateral thalamus (p < 0.05). Close correlation was found between the phase shift value of the left hippocampus and the MMSE scores of the PI patients (R = -0.447, p < 0.01). CONCLUSION: The PI patients exhibited significant cognitive impairment and increased iron deposition in several brain regions. The iron concentration of the left hippocampus is a biomarker of cognitive impairment and may play an important role in the pathophysiological mechanism.


Assuntos
Atividades Cotidianas , Encéfalo , Disfunção Cognitiva , Hipocampo , Distúrbios do Metabolismo do Ferro , Ferro/metabolismo , Imageamento por Ressonância Magnética/métodos , Distúrbios do Início e da Manutenção do Sono , Adulto , Idoso , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , China , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/psicologia , Correlação de Dados , Feminino , Hipocampo/diagnóstico por imagem , Hipocampo/fisiologia , Humanos , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/psicologia , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Distúrbios do Início e da Manutenção do Sono/diagnóstico , Distúrbios do Início e da Manutenção do Sono/etiologia , Distúrbios do Início e da Manutenção do Sono/psicologia
17.
Brain Imaging Behav ; 12(5): 1479-1487, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29297155

RESUMO

This study was performed to investigate iron deposition in the brain of type 2 diabetes mellitus (T2DM) patients using quantitative susceptibility mapping (QSM) and the associated cognitive impairments. Sixty patients diagnosed with T2DM were subjected to neuropsychological tests to determine their cognitive status, and the results were used to subdivide the patients into a T2DM without mild cognitive impairment (MCI) group (n = 30) and a T2DM with MCI group (n = 30). All patients underwent high-resolution susceptibility-weighted imaging, and data processing was performed using SMART (Susceptibility Mapping and Phase Artifacts Removal Toolbox) software. The susceptibility values of the bilateral parietal cortex, frontal white matter, caudate nucleus (CN), putamen (PU), globus pallidus, thalamus, red nucleus, substantia nigra (SN), hippocampus (HP) and dentate nucleus were analyzed and correlated with the neuropsychological cognitive scores. Compared with the normal controls (n = 30), the T2DM without MCI group exhibited significantly increased susceptibility values in the left HP, whereas the T2DM with MCI group showed significantly increased susceptibility values in the bilateral CN, HP, left PU and right SN. Compared with the T2DM without MCI group, the T2DM with MCI group exhibited significantly increased susceptibility values in the right CN, SN and left PU. The susceptibility values for the right CN, SN and left PU were closely correlated with neuropsychological cognitive scores. Our results provide a new relation between T2DM and brain iron deposition and suggested that QSM may be a helpful tool in the detection and evaluation of their cognitive impairment in T2DM.


Assuntos
Encéfalo/metabolismo , Disfunção Cognitiva/complicações , Disfunção Cognitiva/metabolismo , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/metabolismo , Ferro/metabolismo , Encéfalo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Estudos Transversais , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
18.
Laryngoscope ; 127(6): 1442-1450, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27696439

RESUMO

OBJECTIVES/HYPOTHESIS: To study the prevalence and usefulness of audiometric notches in the diagnosis of noise-induced hearing loss (NIHL). STUDY DESIGN: Audiograms and data on noise exposure from 23,297 men and 26,477 women, aged 20 to 101 years, from the Nord-Trøndelag Hearing Loss Study, 1996-1998. METHODS: The prevalence of four types of audiometric notches (Coles, Hoffman, Wilson) and 4 kHz notch were computed in relation to occupational noise exposure, age, sex, and report of recurrent ear infections. RESULTS: The prevalence of notches in the 3 to 6 kHz range (Wilson, Hoffman, and Coles) ranged from 50% to 60% in subjects without occupational noise exposure, and 60% to 70% in the most occupationally noise-exposed men. The differences were statistically significant only for bilateral notches. For 4 kHz notches, the prevalence varied from 25% in occupationally nonexposed to 35% in the most occupationally exposed men, and the differences were statistically significant for both bilateral and unilateral notches. For women, the prevalence of notches was lower than in men, especially for 4 kHz notches, and the differences between occupationally noise exposed and nonexposed were smaller. Recreational exposure to high music was not associated with notched audiograms. CONCLUSIONS: The detection of bilateral notches and unilateral 4 kHz notches is of some value in diagnosing NIHL, especially in men. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1442-1450, 2017.


Assuntos
Audiometria/estatística & dados numéricos , Perda Auditiva Provocada por Ruído/epidemiologia , Ruído Ocupacional/efeitos adversos , Doenças Profissionais/epidemiologia , Exposição Ocupacional/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Perda Auditiva Provocada por Ruído/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Doenças Profissionais/etiologia , Prevalência , Distribuição por Sexo , Adulto Jovem
19.
Behav Brain Res ; 288: 33-8, 2015 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-25862942

RESUMO

The aim of this study was to investigate the brain iron accumulation in subcortical ischemic vascular dementia (SIVD) and its correlation with the severity of cognitive impairment. Thirty five patients with SIVD and 35 healthy controls underwent high-resolution susceptibility-weighted imaging. The phase shift value of the bilateral hippocampus (HP), caudate nucleus (CN), globus pallidus (GP), putamen (PU), thalamus (TH), red nucleus (RN), substantia nigra (SN), anterior cingulate cortex (ACC), posterior cingulate (PCC), parietal cortex (PC) and frontal white matter (FWM) were examined and correlated with neuropsychological scores for SIVD patients. They exhibited significant increased phase shift values in the bilateral HP, CN, PU, right GP and left SN (P<0.05). Close correlations were found between the phase shift value of the left HP, right CN and neuropsychological scores. Our results suggest that brain iron deposition may be a biomarker of SIVD and play an important role in the pathophysiological mechanism.


Assuntos
Encéfalo/metabolismo , Demência Vascular/metabolismo , Ferro/metabolismo , Idoso , Biomarcadores/metabolismo , Isquemia Encefálica/metabolismo , Isquemia Encefálica/psicologia , Transtornos Cognitivos/metabolismo , Demência Vascular/psicologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Testes Neuropsicológicos
20.
BMC Cancer ; 15: 213, 2015 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-25886638

RESUMO

BACKGROUND: Sentinel lymph node (SLN) mapping is the standard method for axillary lymph node staging in patients with breast cancer. Blue dye and radioisotopes are commonly used agents to localize SLNs, but both have several disadvantages. The purpose of this study was to evaluate magnetic resonance lymphography with a gadolinium-based contrast agent (Gd-MRL) in sentinel lymph node identification and metastasis detection in patients with breast cancer. METHODS: Sixty patients (mean age: 46.2 ± 8.8 years) with stage T1- 2 breast cancer and clinically negative axillary lymph nodes participated in this study. After 0.9 ml of contrast material and 0.1 ml of mepivacaine hydrochloride 1% were mixed and injected intradermally into the upper-outer periareolar areas, axillary lymph flow was tracked and sentinel lymph nodes were identified by Gd-MRL. After SLN biopsy and/or surgery, the efficacy of SLN identification and metastasis detection of Gd-MRL were examined. RESULTS: Ninety-six lymph nodes were identified by Gd-MRL as SLNs (M-SLN), and 135 lymph nodes were detected by blue dye-guided methods as SLNs (D-SLN). There was a strong correlation (P < 0.001) between the SLN numbers found by these two methods. Using blue dye-guided methods as the gold standard, the sensitivity of Gd-MRL was 95.65% and the false-negative rate was 4.3% for axillary lymphatic metastasis detection. With heterogeneous enhancement and enhancement defect as the diagnostic criteria, Gd-MRL gave a sensitivity of 89.29% and specificity of 89.66% in discriminating malignant from benign SLNs. CONCLUSION: Gd-MRL offers a new method for SLN identification and metastasis detection in patients with breast cancer.


Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Meios de Contraste , Gadolínio , Linfografia/métodos , Imageamento por Ressonância Magnética/métodos , Biópsia de Linfonodo Sentinela , Adulto , Axila , Feminino , Humanos , Linfonodos/patologia , Metástase Linfática , Pessoa de Meia-Idade , Estadiamento de Neoplasias
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