Biomarkers ; Brain/diagnostic imaging* ; Brain Diseases/diagnostic imaging* ; Humans ; Machine Learning ; Magnetic Resonance Imaging ; Neuroimaging

In this review, combined post-mortem brain magnetic resonance imaging (MRI) and histology studies are highlighted, illustrating the relevance of translational approaches to define novel MRI signatures of neuropathological lesions in neuroinflammatory and neurodegenerative disorders. Initial studies combining post-mortem MRI and histology have validated various MRI sequences, assessing their sensitivity and specificity as diagnostic biomarkers in neurologic disease. More recent studies have focused on defining new radiological (bio)markers and implementing them in the clinical (research) setting. By combining neurological and neuroanatomical expertise with radiological development and pathological validation, a cycle emerges that allows for the discovery of novel MRI biomarkers to be implemented in vivo. Examples of this cycle are presented for multiple sclerosis, Alzheimer's disease, Parkinson's disease, and traumatic brain injury. Some applications have been shown to be successful, while others require further validation. In conclusion, there is much to explore with post-mortem MRI and histology studies, which can eventually be of high relevance for clinical practice.
Animals ; Brain ; diagnostic imaging ; pathology ; Humans ; Magnetic Resonance Imaging ; methods ; Nervous System Diseases ; diagnostic imaging ; pathology

INTRODUCTIONRadiologists may encounter bilaterally symmetrical abnormalities of the basal ganglia on magnetic resonance imaging (MRI), typically in the context of diffuse systemic, toxic or metabolic diseases. A systematic approach and broad knowledge of pathology causing this uncommon group of conditions would be useful.

MATERIALS AND METHODSThis review uses illustrative images to highlight metabolic conditions, such as Leigh's syndrome, citrullinaemia, hypoglycaemia or carbon monoxide poisoning, as well as other causes of bilateral basal ganglia lesions such as osmotic myelinolysis, deep cerebral venous thrombosis and Creutzfeldt-Jakob disease.

RESULTSCareful assessment of radiological findings outside the basal ganglia, such as involvement of the cortex, white matter, thalamus and pons, together with clinical correlation, may be helpful in narrowing the differential diagnosis, and directing further radiological, biochemical or genetic investigations. Recent advances in MR technology have resulted in newer techniques including diffusion-weighted (DW) MR imaging and MR spectroscopy (MRS); these may be helpful if appropriately used.

CONCLUSIONSAbnormal MRI findings in the basal ganglia should not be interpreted in isolation. A systematic approach including DW MR imaging, MRS, and a broad knowledge of diffuse systemic, toxic or metabolic diseases is helpful.

Basal Ganglia Diseases ; diagnosis ; diagnostic imaging ; physiopathology ; Brain Diseases, Metabolic ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Radiography

OBJECTIVETo determine the distribution of aortic arch and intra/extracranial cerebral arterial atherosclerosis in Chinese patients who had suffered acute ischemic strokes.

METHODSEighty-nine patients with acute ischemic strokes were included in this study. Transesophageal echocardiography (TEE) was used to evaluate potential sources of embolisms in the aortic arch and in the heart; duplex ultrasound was used for the carotid artery; and intracranial Doppler (TCD) imaging was used for the middle cerebral artery (MCA), anterior cerebral artery (ACA), posterior cerebral artery (PCA), and basilar artery (BA). An atherosclerotic lesion in the aortic arch was defined as normal (0); mild plaque (1); moderate plaque (2); and protruding plaque or mobile plaque (3). A lesion in the carotid artery was considered a plaque if the maximal carotid plaque thickness was 1.2 mm. TCD results were deemed abnormal if flow velocity was either greater or lower than normal, and, in the case of the MCA, if an asymmetry index above 21% was measured.

RESULTSOf the 89 patients, 52 (58.43%) patients showed evidence of aortic arch atherosclerosis (AAA), including 11 (12.36%) patients graded mild, 18 (20.22%) patients graded moderate, and 23 (25.84%) patients graded severe. Of the 23 patients with severe AAA, AAA was determined to be an important potential embolic source in 14 patients. Forty-nine (50.56%) patients had carotid arterial plaques (CAPs). The incidence of carotid plaques was higher among patients with AAA than among patients without AAA (71.15% vs 21.62%, OR = 3.291, 95% CI = 1.740 - 6.225, P < 0.001). TCD abnormalities affecting the MCA were found in 54 (60.67%) patients. Differences in incidence of TCD abnormalities between patients with AAA and without AAA (69.23% vs 48.65%) were not significant (OR = 1.423, 95% CI = 0.976 - 2.076, P = 0.05). There was a higher incidence of AAA in older, male patients with a history of diabetes and smoking.

CONCLUSIONSAAA is an important potential source of cerebral embolic strokes. The presence of carotid arterial plaques correlates with AAA incidence. Most of carotid artery lesion were plaques other than severe stenosis, it may be the character of carotid atherosclerosis of stroke patients. It appears that atherosclerosis does not mainly occur in the intracranial arteries in stroke patients as thought before. Aged, male, diabetes, and smoking are important risk factors to the AAA.

Acute Disease ; Aged ; Aorta, Thoracic ; diagnostic imaging ; Aortic Diseases ; diagnostic imaging ; Arteriosclerosis ; diagnostic imaging ; Brain Ischemia ; diagnostic imaging ; Female ; Humans ; Intracranial Arteriosclerosis ; diagnostic imaging ; Intracranial Embolism ; diagnostic imaging ; Male ; Middle Aged ; Stroke ; diagnostic imaging ; Ultrasonography

BackgroundCompared with full-term infants, very preterm infants are more vulnerable to injury and long-term disability and are at high risk of death. The predictive value of ultrasound and imaging on the neurodevelopment is one of the hot topics. This study aimed to investigate the relationship between cranial ultrasound (cUS) variables and neurodevelopmental outcomes of very preterm infants.

MethodsTotally 129 very preterm infants (gestational age ≤28 weeks) in neonatal intensive care unit of Hunan Children's Hospital between January 2012 and November 2014 were included in this retrospective study. Serial cUS (weekly before discharge and monthly after discharge) was performed on the infants until 6 months or older. Magnetic resonance imaging (MRI) was performed on the infants at approximately the term-equivalent age. The mental developmental index (MDI) and psychomotor developmental index (PDI) were followed up until the infants were 24 months or older. The relationship between brain injury and MDI/PDI scores was analyzed.

ResultsThe consistency rate between cUS and MRI was 88%. At the first cUS, germinal matrix hemorrhage (GMH) Grades 3 and 4, hospitalization duration, and weight are significantly correlated with MDI/PDI and prognosis (MDI: odds ratio [OR] = 8.415, 0.982, and 0.042, P = 0.016, 0.000, and 0.004; PDI: OR = 7.149, 0.978, and 0.012, P = 0.025, 0.000, and 0.000, respectively). At the last cUS, gestational age, extensive cystic periventricular leukomalacia (c-PVL), and moderate and severe hydrocephaly are significantly correlated with MDI (OR = 0.292, 60.220, and 170.375, P = 0.004, 0.003, and 0.000, respectively). Extensive c-PVL and moderate and severe hydrocephaly are significantly correlated with PDI (OR = 76.861 and 116.746, P = 0.003 and 0.000, respectively).

ConclusionsVery premature infants with GMH Grades 3 and 4, short hospitalization duration, and low weight have low survival rates and poorly developed brain nerves. Cerebral palsy can result from severe cerebral hemorrhage, moderate and severe hydrocephaly, and extensive c-PVL. The sustained, inhomogeneous echogenicity of white matter may suggest subtle brain injury.

Brain ; diagnostic imaging ; Brain Injuries ; diagnostic imaging ; Cerebral Hemorrhage ; diagnostic imaging ; Echoencephalography ; Female ; Gestational Age ; Humans ; Hydrocephalus ; diagnostic imaging ; Infant, Premature ; Infant, Premature, Diseases ; diagnostic imaging ; Magnetic Resonance Imaging ; Pregnancy ; Retrospective Studies

Adolescent ; Brain Diseases ; diagnostic imaging ; Brain Neoplasms ; diagnostic imaging ; surgery ; Diagnosis, Differential ; Hematoma, Epidural, Cranial ; diagnostic imaging ; Hernia ; diagnostic imaging ; Humans ; Male ; Plasmacytoma ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed

Adult ; Brain Diseases ; diagnostic imaging ; genetics ; Calcinosis ; diagnostic imaging ; genetics ; Calcium ; metabolism ; Humans ; Middle Aged ; Neurodegenerative Diseases ; diagnostic imaging ; genetics ; Retrospective Studies ; Tomography, X-Ray Computed

Age-related sporadic cerebral small vessel disease (CSVD) has gained increasing attention over the past decades because of its increasing prevalence associated with an aging population. The widespread application of and advances in brain magnetic resonance imaging in recent decades have significantly increased researchers' understanding in the in vivo evolution of CSVD, its impact upon the brain, its risk factors, and the mechanisms that explain the various clinical manifestation associated with sporadic CSVD. In this review, we aimed to provide an update on the pathophysiology, risk factors, biomarkers, and the determinants and spectrum of the clinical manifestation of sporadic CSVD.
Aged ; Aging ; Brain/diagnostic imaging* ; Cerebral Small Vessel Diseases/epidemiology* ; Humans ; Magnetic Resonance Imaging ; Pandemics

OBJECTIVETo explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.

METHODSExons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.

RESULTSDNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.

CONCLUSIONMutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.

Alcohol Oxidoreductases ; genetics ; Base Sequence ; Brain ; diagnostic imaging ; Brain Diseases, Metabolic, Inborn ; diagnostic imaging ; enzymology ; genetics ; Child ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Radiography ; Young Adult

BACKGROUNDEchinococcosis is still endemic in many countries, including China, where it is especially prevalent in the northwest. The aim of this study was to enrich the international literature about the treatment of intracranial hydatid cysts.

METHODSWe retrospectively reviewed the clinical features, radiological manifestations, and surgical outcome of 97 patients with intracranial hydatid cysts, who received surgical treatment at the Neurosurgical Department of First Affiliated Hospital of Xinjiang Medical University from 1985 to 2010 and followed up the patient via sending a questionnaire or telephone contact. Clinical outcome was evaluated using the Karnofsky Performance Scale Index.

RESULTSHeadache and vomiting were the most common initial symptoms in our patients. Neurological deficits caused by the mass effect of the cysts were seen in 82 cases. On the X-ray, significant bone erosion was seen in only two cases with epidural hydatid cysts. Round-shaped and thin-walled homogeneous low-density cystic lesions without surrounding edema and enhancement were the main findings on computerized tomography (CT) in 95 patients with intraparenchymal hydatid cysts, while two cases with epidural hydatid cysts presented as a heterodensity lesions. On magnetic resonance imaging (MRI), hydatid cyst presented as a round-shaped low signal lesion in T1-weighted images and high signal lesion in T2-weighted images, without enhancement after contrast media injection, while the two cases with epidural cysts presented as mixed signal masses. Surgical removal of cyst was performed in all cases. Total removal was achieved in 93 cases without rupturing the cyst wall. Only two cysts ruptured during the dissection, resulting in two surgery-related mortalities. There was no other additional neurological deficit caused directly by surgery. In 97.2% of the patients, the Karnofsky Performance Scale score was 80 to 90 at the last follow-up.

CONCLUSIONSIntracranial hydatid cyst is still a main cause of increased intracranial pressure among the patients in endemic areas for echinococcosis. CT and MRI are the best diagnostic methods and surgery is the treatment of choice for intracranial hydatid cysts.

Adult ; Brain Diseases ; diagnostic imaging ; pathology ; surgery ; Child ; Echinococcosis ; diagnostic imaging ; pathology ; surgery ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Tomography, X-Ray Computed