This study aimed to investigate the independent and interactive influences of apolipoprotein E (APOE) epsilon4 and beta-amyloid (Abeta) on multiple cognitive domains in a large group of cognitively normal (CN) individuals and patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD). Participants were included if clinical and cognitive assessments, amyloid imaging, and APOE genotype were all available from the Alzheimer's Disease Neuroimaging Initiative database (CN = 324, MCI = 502, AD = 182). Individuals with one or two copies of epsilon4 were designated as APOE epsilon4 carriers (epsilon4+); individuals with no epsilon4 were designated as APOE epsilon4 non-carriers (epsilon4-). Based on mean florbetapir standard uptake value ratios, participants were classified as Abeta burden-positive (Abeta+) or Abeta burden-negative (Abeta-). In MCI, APOE epsilon4 effects were predominantly observed on frontal executive function, with epsilon4+ participants exhibiting poorer performances; Abeta positivity had no influence on this effect. Abeta effects were observed on global cognition, memory, and visuospatial ability, with Abeta+ participants exhibiting poorer performances. Measures of frontal executive function were not influenced by Abeta. Interactive effects of APOE epsilon4+ and Abeta were observed on global cognition and verbal recognition memory. Abeta, not APOE epsilon4+, influenced clinical severity and functional status. The influences of APOE epsilon4+ and Abeta on cognitive function were minimal in CN and AD. In conclusion, we provide further evidence of both independent and interactive influences of APOE epsilon4+ and Abeta on cognitive function in MCI, with APOE epsilon4+ and Abeta showing dissociable effects on executive and non-executive functions, respectively.
Aged ; Aged, 80 and over ; Alzheimer Disease/genetics/pathology ; Amyloid beta-Peptides/*metabolism ; Aniline Compounds/chemistry ; Apolipoprotein E4/*genetics ; Brain/radiography ; Cognition ; Databases, Factual ; Demography ; Ethylene Glycols/chemistry ; Female ; Genotype ; Humans ; Male ; Mild Cognitive Impairment/genetics/*pathology ; Positron-Emission Tomography

OBJECTIVE: To determine whether histogram values of the normalized apparent diffusion coefficient (nADC) and normalized cerebral blood volume (nCBV) maps obtained in contrast-enhancing lesions detected on immediate post-operative MR imaging can be used to predict the patient response to concurrent chemoradiotherapy (CCRT) with temozolomide (TMZ). MATERIALS AND METHODS: Twenty-four patients with GBM who had shown measurable contrast enhancement on immediate post-operative MR imaging and had subsequently undergone CCRT with TMZ were retrospectively analyzed. The corresponding histogram parameters of nCBV and nADC maps for measurable contrast-enhancing lesions were calculated. Patient groups with progression (n = 11) and non-progression (n = 13) at one year after the operation were identified, and the histogram parameters were compared between the two groups. Receiver operating characteristic (ROC) analysis was used to determine the best cutoff value for predicting progression. Progression-free survival (PFS) was determined with the Kaplan-Meier method and the log-rank test. RESULTS: The 99th percentile of the cumulative nCBV histogram (nCBV C99) on immediate post-operative MR imaging was a significant predictor of one-year progression (p = 0.033). ROC analysis showed that the best cutoff value for predicting progression after CCRT was 5.537 (sensitivity and specificity were 72.7% and 76.9%, respectively). The patients with an nCBV C99 of < 5.537 had a significantly longer PFS than those with an nCBV C99 of ≥ 5.537 (p = 0.026). CONCLUSION: The nCBV C99 from the cumulative histogram analysis of the nCBV from immediate post-operative MR imaging may be feasible for predicting glioblastoma response to CCRT with TMZ.
Adult ; Aged ; Antineoplastic Agents, Alkylating/*therapeutic use ; Brain/pathology/radiography ; Brain Neoplasms/*drug therapy/mortality/radiography ; Chemoradiotherapy ; Dacarbazine/*analogs & derivatives/therapeutic use ; Diffusion Magnetic Resonance Imaging ; Disease Progression ; Disease-Free Survival ; Female ; Glioblastoma/*drug therapy/mortality/radiography ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Proportional Hazards Models ; ROC Curve ; Retrospective Studies

Computed tomography (CT) is widely used in postmortem investigations as an adjunct to the traditional autopsy in forensic medicine. To date, several studies have described postmortem CT findings as being caused by normal postmortem changes. However, on interpretation, postmortem CT findings that are seemingly due to normal postmortem changes initially, may not have been mere postmortem artifacts. In this pictorial essay, we describe the common postmortem CT findings in cases of atraumatic in-hospital death and describe the diagnostic pitfalls of normal postmortem changes that can mimic real pathologic lesions.
Adult ; Aged ; Autopsy/instrumentation/*methods ; Brain/pathology/radiography ; Female ; Forensic Medicine/instrumentation/*methods ; Gastrointestinal Tract/pathology/radiography ; Heart/radiography ; Humans ; Lung/pathology/radiography ; Male ; Middle Aged ; Myocardium/pathology ; Postmortem Changes ; Tomography, X-Ray Computed/*methods

OBJECTIVE: To comprehensively analyze the spectrum of imaging features of the primary tumors and metastatic patterns of the Extraskeletal Ewing sarcoma family of tumors (EES) in adults. MATERIALS AND METHODS: We performed a computerized search of our hospital's data-warehouse from 1996 to 2013 using codes for Ewing sarcoma and primitive neuroectodermal tumors as well as the demographic code for > or = 18 years of age. We selected subjects who were histologically confirmed to have Ewing sarcoma of extraskeletal origin. Imaging features of the primary tumor and metastatic disease were evaluated for lesion location, size, enhancement pattern, necrosis, margin, and invasion of adjacent organs. RESULTS: Among the 70 patients (mean age, 35.8 +/- 15.6 years; range, 18-67 years) included in our study, primary tumors of EES occurred in the soft tissue and extremities (n = 20), abdomen and pelvis (n = 18), thorax (n = 14), paravertebral space (n = 8), head and neck (n = 6), and an unknown primary site (n = 4). Most primary tumors manifested as large and bulky soft-tissue masses (mean size, 9.0 cm; range, 1.3-23.0 cm), frequently invading adjacent organs (45.6%) and showed heterogeneous enhancement (73.7%), a well-defined (66.7%) margin, and partial necrosis/cystic degeneration (81.9%). Notably, 29 patients had metastatic disease detected at their initial diagnosis. The most frequent site of metastasis was lymph nodes (75.9%), followed by bone (31.0%), lung (20.7%), abdominal solid organs (13.8%), peritoneum (13.8%), pleura (6.9%), and brain (3.4%). CONCLUSION: Primary tumors of EES can occur anywhere and mostly manifest as large and bulky, soft-tissue masses. Lymph nodes are the most frequent metastasis sites.
Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; Bone Neoplasms/*pathology/radiography ; Brain Neoplasms/pathology/radiography ; Female ; Humans ; Lymph Nodes/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasm Metastasis ; Neuroectodermal Tumors, Primitive/pathology/radiography ; Positron-Emission Tomography ; Sarcoma, Ewing/*pathology/radiography ; Tomography, X-Ray Computed ; Young Adult

This study aimed to investigate inflammatory edema after cerebral ischemia through 7.0T MRI and proton magnetic resonance spectroscopy (MRS). All SD rats were randomly divided into sham operated group and middle cerebral artery occlusion (MCAO)-1 day, -3 day and -7 day groups. MRI scan of the brain was performed on a 7.0 Tesla MRI scanner. The volume of positive signals in the ischemic side was detected by using a T2 weighted spinecho multislice sequence; the changes in the height of water-peak were measured with point resolved spectroscopy (PRESS) sequences; cortical edema was detected by using wet-dry weight method; the degrees of nerve injury were evaluated by Bederson neurological score system; double-labeling immunofluorescence technique was used to explore the molecular mechanisms of post-ischemia cerebral edema. The results showed that high T2WI signals were observed in MCAO-1 day, -3 day and -7 day groups, and the water-peak height and water-peak area of MCAO groups were higher than those of sham operated group (P<0.05). Neurological score results were consistent with the degree of brain edema, and a large number of microglia accumulated in the ischemic cortex. Our results suggested that non-invasive MRI technology with the advantage of high spatial resolution and tissue resolution can comprehensively and dynamically observe inflammatory edema after cerebral ischemia from a three-dimensional space, and contribute to evaluation and treatments in clinic.
Animals ; Brain ; diagnostic imaging ; pathology ; Brain Edema ; diagnostic imaging ; etiology ; Brain Ischemia ; complications ; CD11b Antigen ; metabolism ; Immunohistochemistry ; Infarction, Middle Cerebral Artery ; complications ; Inflammation ; diagnostic imaging ; etiology ; Magnetic Resonance Imaging ; methods ; Magnetic Resonance Spectroscopy ; Male ; Microglia ; metabolism ; Microscopy, Confocal ; Microscopy, Fluorescence ; Radiography ; Rats ; Rats, Sprague-Dawley ; Reproducibility of Results ; Time Factors

OBJECTIVETo summarize the clinical features, imaging characteristics, diagnosis and treatment of a case with central nervous system infection caused by Exophiala dermatitidis, as well as to review the related literature.

METHODAssociated literature and clinical data of an 8-year-old boy who was diagnosed as central nervous system infection caused by Exophiala dermatitidis in Beijing Children's Hospital Affiliated to Capital Medical University and hospitalized twice from 2012 to 2014 were analyzed retrospectively.

RESULTThe boy was 8 years old with the chief complaint of dizziness for 2 months, intermittent fever for 1 month accompanied with spasm twice. He was diagnosed as bile ducts space-occupying lesions 2 years ago, when the pathological diagnosis was fungal infection. The boy was treated with irregular anti-fungal therapy. Then the boy developed nervous symptoms, impaired consciousness and abnormal physical activity that developed gradually. After hospitalization the cerebral MRI of the boy showed space-occupying lesions accompanied with edema of surrounding area. Filamentous fungi was found by brain biopsy, which was culture positive for Exophiala dermatitidis. After diagnosis the boy was treated with amphotericin B (AMB), voriconazole and 5-Fu, as well as symptomatic treatment. The state of the boy was improved gradually. Two months later, the boy could communicate with others normally and move personally. The lesions and edema seen on the MRI was decreased moderately. Accordingly, the boy was treated with oral voriconazole maintenance treatment for about 1 year and 4 months after discharge. During this period, the state of him was stable without symptoms. The lesions shown by MRI did not disappear but decreased on regular examination. However, recently the disease of the boy progressed again, with dizziness, neck pain, headache and progressive nervous symptoms (intermittent spasm, inability to cough, and impaired consciousness). The boy died at last, even with the active treatment at the second hospitalization. Exophiala dermatitidis was culture-positive again in his CSF, and was confirmed by PCR successfully.

CONCLUSIONThe central nervous system infection caused by Exophiala dermatitidis is rare. Clinical features of this disease were similar to those of other fungal CNS infection, cerebral MRI of which could show the similar lumpy lesions. Diagnosis of the disease should be based on pathology and culture.

Amphotericin B ; administration & dosage ; Antifungal Agents ; administration & dosage ; Brain ; diagnostic imaging ; microbiology ; pathology ; Central Nervous System Infections ; diagnosis ; drug therapy ; microbiology ; Cerebrospinal Fluid ; microbiology ; Child ; Drug Therapy, Combination ; Exophiala ; isolation & purification ; Fatal Outcome ; Fluorouracil ; administration & dosage ; Humans ; Magnetic Resonance Imaging ; Male ; Mycoses ; diagnosis ; drug therapy ; microbiology ; Radiography ; Voriconazole ; administration & dosage

OBJECTIVEMucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI.

METHODThirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene.

RESULTThirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%).

CONCLUSIONThe severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.

Bone and Bones ; diagnostic imaging ; pathology ; Brain ; pathology ; Child ; Child, Preschool ; Exons ; genetics ; Female ; Glycosaminoglycans ; urine ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mucopolysaccharidosis VI ; diagnosis ; enzymology ; genetics ; Mutation ; N-Acetylgalactosamine-4-Sulfatase ; genetics ; metabolism ; Polymerase Chain Reaction ; Radiography ; Retrospective Studies ; Sequence Analysis, DNA

OBJECTIVETo explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease.

METHODWe retrospectively reviewed the clinical, neuroimaging and biochemical findings in this Chinese child with juvenile Sandhoff disease. Hexosaminidase A and hexosaminidase A & B activities were measured in blood leukocytes by fluorometric assay. HEXB gene molecular analysis was performed by PCR and direct sequencing.

RESULTThe 9-year-old boy was admitted for psychomotor regression. He presented slowly progressive gait disorder and dysarthria during the last three years. Cranial MRI revealed a marked cerebellar atrophy with normal intensity in the thalamus and basal ganglia. Brain MRS showed normal in the thalamus and basal ganglia. Hexosaminidase A was 69.5 (mg·h) [normal controls 150-360 nmol/(mg·h)], hexosaminidase A & B activity was 119 nmol/(mg·h)[normal controls 600-3 500 nmol/(mg·h)], confirming the diagnosis of Sandhoff disease. The patient was a compound heterozygote for a novel deletion mutation c.1404delT (p. P468P fsX62) and a reported mutation c.1509-26G>A.

CONCLUSIONThe clinical features of juvenile Sandhoff disease include ataxia, dysarthria and cerebellar atrophy. The enzyme assay and molecular analysis of HEXB gene can confirm the diagnosis of Sandhoff disease. The novel mutation c.1404delT(p. P468P fsX62) is a disease-related mutation.

Brain ; diagnostic imaging ; pathology ; Cerebellar Ataxia ; diagnosis ; enzymology ; genetics ; Child ; DNA Mutational Analysis ; Heterozygote ; Hexosaminidase A ; blood ; metabolism ; Hexosaminidase B ; blood ; metabolism ; Humans ; Leukocytes ; enzymology ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography ; Retrospective Studies ; Sandhoff Disease ; diagnosis ; enzymology ; genetics ; beta-Hexosaminidase beta Chain ; genetics

OBJECTIVETo investigate the characteristics of a new clinical-image syndrome-mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) of corpus callosum.

METHODThe clinical and imaging features of one pediatric patient with the diagnosis of MERS were analyzed and the clinical and radiologic data of 44 MERS cases which were reported all around the world were also analyzed.

RESULTThe underlying disease of the patient before the onset was respiratory mycoplasma infection. On the second day of the disease course, the patient presented symptoms of encephalopathy. Brain MRI indicated lesions in the splenium of corpus callosum, centrum semiovate and posterior periventricular white matter. And these lesions recovered completely within 3 weeks. Most of the 44 patients diagnosed with MERS were associated with infectious diseases and completely recovered within two weeks. Symptoms included consciousness disturbance, convulsions and dysarthria. In addition to the splenium, brain MRI also showed lesions in genu of corpus callosum, centrum semiovate and white matter of frontal lobe.

CONCLUSIONThe clinical presentations of MERS were sudden onset of symptoms of encephalopathy during acute inflammation. Brain MRI indicated a reversible lesion in the splenium of corpus callosum. Patients recover completely within a few days.

Bacterial Infections ; complications ; Brain ; diagnostic imaging ; pathology ; Child ; Child, Preschool ; Corpus Callosum ; diagnostic imaging ; pathology ; Diffusion Magnetic Resonance Imaging ; Electroencephalography ; Encephalitis ; diagnostic imaging ; pathology ; Female ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; Radiography ; Virus Diseases ; complications

Cryptococcus neoformans, an encapsulated fungus, is an important opportunistic pathogen that can cause meningitis in immunocompromised patients. Since patients with cryptococcemia have high mortality, it is essential to make an early diagnosis and promptly initiate antifungal therapy. However, it is often very difficult to differentiate between cryptococcal meningitis and hepatic encephalopathy in patients with liver cirrhosis, and there is delay in making the diagnosis. Therefore, these patients have a particularly grave prognosis and consequently many patients die before culture results become available. In one study, starting antifungal therapy within 48 hours of the blood culture was associated with improved survival, but patients with liver cirrhosis were significantly less likely to receive antifungal therapy within 48 hours compared to those without liver cirrhosis. Recently, the authors experience a case of a 68-year-old woman with liver cirrhosis who presented with fever and a drowsy mental status. She had a previous history of having been admitted for infection-associated hepatic encephlopathy. Cryptococcal meningitis and cryptococcemia were diagnosed by spinal puncture and culture of cerebrospinal fluid. In spite of adequate treatment, the patient developed multi-system organ failure and eventually expired. Herein, we report a case of cryptococcal meningitis mimicking hepatic encephalopathy in a patient with liver cirrhosis.
Aged, 80 and over ; Brain/radiography ; Cryptococcus/isolation & purification ; Female ; Hepatic Encephalopathy/complications/*diagnosis ; Hepatitis C, Chronic/complications/pathology ; Humans ; Liver Cirrhosis/etiology/pathology ; Meningitis, Cryptococcal/complications/*diagnosis/microbiology ; Tomography, X-Ray Computed