Prenatal Imaging of Supratentorial Fetal Brain Malformation.

This review article provides a comprehensive overview of fetal MR imaging in supratentorial cerebral malformations. It emphasizes the importance of fetal MR imaging as an adjunct diagnostic tool used alongside ultrasound, improving the detection and characterization of prenatal brain abnormalities. This article reviews a spectrum of cerebral malformations, their MR imaging features, and the clinical implications of these findings. Additionally, it outlines the growing importance of fetal MR imaging in the context of perinatal care.

Applying ONCO-RADS to whole-body MRI cancer screening in a retrospective cohort of asymptomatic individuals.

BACKGROUND: Whole-body magnetic resonance imaging (WB-MRI) has emerged as a valuable tool for cancer detection. This study evaluated the prevalence rates of cancer in asymptomatic individuals undergoing WB-MRI according to the Oncologically Relevant Findings Reporting and Data System (ONCO-RADS) classifications in order to assess the reliability of the classification method. METHODS: We retrospectively enrolled 2064 asymptomatic individuals who participated in a WB-MRI cancer screening program between 2017 and 2022. WB-MRI was acquired on a 3-T system with a standard protocol, including regional multisequence and gadolinium-based contrast agent-enhanced oncologic MRI. Results of further examinations, including additional imaging and histopathology examinations, performed at our institute were used to validate the WB-MRI findings. Two radiologists blinded to the clinical outcome classified the WB-MRI findings according to the ONCO-RADS categories as follows: 1 (normal), 2 (benign finding highly likely), 3 (benign finding likely), 4 (malignant finding likely), and 5 (malignant finding highly likely). Firth logistic regression analysis was performed to determine the associations between participant characteristics and findings of ONCO-RADS category ≥ 4. RESULTS: Of the 2064 participants with median age of 55 years, 1120 (54.3%) were men, 43 (2.1%) had findings of ONCO-RADS category ≥ 4, and 24 (1.2%) had confirmed cancer. The cancer prevalence rates were 0.1%, 5.4%, 42.9%, and 75% for ONCO-RADS categories 2, 3, 4, and 5, respectively. In the multivariable model, older age (OR: 1.035, p = 0.029) and history of hypertension (OR: 2.051, p = 0.026), hepatitis B carrier (OR: 2.584, p = 0.013), or prior surgery (OR: 3.787, p < 0.001) were independently associated with the findings for ONCO-RADS category ≥ 4. CONCLUSIONS: The ONCO-RADS categories for cancer risk stratification were validated and found to be positively correlated with cancer risk. The application of ONCO-RADS facilitates risk-based management after WB-MRI for cancer screening.

Successful lung transplantation for artificial stone-associated accelerated silicosis: a case report.

This report focuses on the occupational health risks associated with the use of artificial stones containing high levels of crystalline silica in the production of kitchen countertops. It presents the case of a 43-yr-old man who developed severe silicosis due to his occupation involving cutting and polishing quartz stone raw materials. A retrospective analysis of the patient's medical records and occupational history was conducted. The diagnosis of severe silicosis, moderate restrictive lung disease, and bilateral pneumothorax was based on clinical manifestations, pulmonary function test, radiological findings, and histological reports. The patient underwent lung transplantation, and his pulmonary function improved post-surgery. The study highlights the significant health risks associated with procedures involving artificial stones and emphasizes the importance of awareness and protective measures for employees and workers. Clinicians should be cautious when diagnosing respiratory symptoms in patients with a history of occupational exposure to artificial stones containing high levels of crystalline silica.

Influence of Vertebrobasilar Stenotic Lesion Rigidity on the Outcome of Angioplasty and Stenting.

Stenotic lesion rigidity (SLR) has an unclear influence on the outcome of percutaneous transluminal angioplasty and stenting (PTAS) for intracranial arterial stenosis. This study evaluated the outcome of PTAS and the relationship of vertebrobasilar SLR to features on vessel wall MRI (VW-MRI) for identifying pathologies of vertebrobasilar stenosis (VBS) and evaluating PTAS outcome. We retrospectively evaluated the results of PTAS in 31 patients with severe VBS. Stenotic lesions were classified as soft (based on predilatation pressure [PP] ≦ 4 atm) in 15 patients or hard (PP >4 atm) in 16 patients. We examined the relationship of SLR to clinical and MR findings. Patients with hard vs soft lesions had atherosclerosis (8/16 [50.0%] vs 2/15 [13.3%]), dissection (0/16 [0.0%] vs 12/15 [80.0%]), and dissection in atherosclerosis (8/16 [50.0%] vs 1/15 [6.7%], P < 0.0001); high intensity signal on the T1WI of VW-MRI (5/16 [31.3%] vs 14/15 [93.3%]) and iso- to low intensity signal (11/16 [68.7%] vs 1/15 [6.7], P = 0.001), and significant in-stent restenosis (>50%) in 5/15 (33.3%) vs 0/15 (0.0%) (P = 0.0421) in the 30 patients who successfully completed PTAS. Vertebrobasilar SLR correlated well with lesion etiology, findings on VW-MRI, and PTAS outcome. Patients with hard stenotic lesions need close follow-up after PTAS.

Fluoroscopic angiography quantifies delay in cerebral circulation time and requires less radiation in carotid stenosis patients: A pilot study.

BACKGROUND: Quantitative digital subtraction angiography (DSA) facilitates in-room assessment of flow changes in various cerebrovascular diseases and improves patient safety. The purpose of this study was to compare the diagnostic accuracy of quantitative fluoroscopic angiography (FA) and DSA. METHODS: Twenty-two patients with >70% carotid stenosis according to NASCET criteria were prospectively included in the study. All patients received DSA and FA (ArtisZee, Siemens Healthcare, Forchheim, Germany) before and after carotid stenting in the same angiosuite. The regions of interest (ROIs) included the extracranial internal carotid artery (eICA), first segment of the middle cerebral artery (MCA1), and sigmoid sinus in the anterior-posterior view; cavernous portion of the ICA (cICA), parietal vein, and jugular vein in the lateral views. The time-to-peak (TTP) for all ROIs and cerebral circulation time (CCT) were measured from FA and DSA scans. TTP, CCT, and radiation doses from DSA were compared with those from FA. RESULTS: The mean age of the patients were 69 ± 9.5 years old. The average stenosis was 89.7% ± 7.8% before stenting and 31% ± 3.6% after stenting. No patient suffered from periprocedural stroke. The intermethod correlation for TTP for all ROIs except the eICA and cICA ranged from 0.46 to 0.65 before stenting and 0.57 to 0.73 after stenting, and that for CCT was 0.65 before stenting and 0.57 after stenting. The radiation doses were significantly lower for FA than for DSA regardless of views or periprocedural timing (p < 0.001). CONCLUSION: Stenosis facilitated the creation of a bolus by manual injection and therefore increased the accuracy of cerebral flow quantification in FA. Cerebral hemodynamic assessment by FA is quicker and associated with less radiation.

Prognostic factors related to intratumoral hemorrhage in pediatric intracranial germ cell tumors.

BACKGROUND: Certain types of pediatric intracranial germ cell tumors (PIGCTs) are prone to intratumoral hemorrhaging (TH) and associated with poor survival outcome. However, the impact of TH on the functional prognosis of patients with PIGCTs has not been well studied. This study aimed to evaluate the clinical and MR findings in PIGCT patients with TH to identify the factors related to patient survival and functional outcome. METHODS: This study included 17 patients diagnosed with PIGCT and TH between 2002 and 2016 and evaluated TH-associated clinical and MR findings. The modified Rankin scale (mRS) was used to evaluate functional outcome, which was poor when mRS ≧ 3. The volumes of hematomas and tumors were manually tracked within each brain magnetic resonance imaging slice. RESULTS: Among the 17 patients, 6 (35.3%) died and 9 (52.9%) had poor functional outcome. Regarding the functional outcome, the mean hematoma volume to tumor volume ratio (HTVR) was 8.5 ± 3.9% in the favorable outcome group and 42.3 ± 27.8% in the poor outcome group (p = 0.001). For the survival outcome, the mean HTVR was 15.7 ± 16.1% in the living group and 46.0 ± 31.5% in the deceased group (p = 0.016). The cutoff point of the receiver operating characteristics curve for HTVR to predict death and poor functional outcome was 19.27% and 16.8%, respectively. CONCLUSION: Our study demonstrated that patients with larger HTVR had significantly worse functional and survival outcomes than those with smaller HTVR. We suggest that early and aggressive treatment for PIGCTs in patients with large HTVR can improve their long-term prognosis.

Influence of stenting with open-cell stents vs close-cell stents on the outcomes of patients with bilateral carotid stenosis.

BACKGROUND: Carotid artery stenting (CAS) is an effective way to prevent stroke in patients with severe carotid stenosis. However, several studies comparing the outcomes of stenting with open-cell stents (OCS) vs closed-cell stents (CCS) have yielded inconclusive results. This study aimed to compare the outcomes of CAS with OCS vs CCS in the same patients. METHODS: From year 2000 to 2016, we included 52 patients with severe bilateral carotid stenosis who underwent OCS deployment in one artery and CCS deployment in the contralateral artery. Stents were selected according to arterial anatomy and lesion morphology, and the peri-procedural and long-term outcomes of treatment with OCS vs CCS, were compared in terms of rates of ischemic spot development on early post-procedural diffusion-weighted imaging (ISDWI), in-stent restenosis (ISR), and recurrent stroke. RESULTS: After stenting with OCS vs CCS, the number (rate) of arteries with no lesion, < 5 lesions, and ≥ 5 lesions on DWI was 9 (32%) vs 8 (27%), 8 (29%) vs 17 (57%), and 11 (39%) vs 5 (17%) (p = .10); number (rate) of arteries with 0%, < 50%, and >50% ISR was 34 (65%) vs 34 (65%), 9 (17%) vs 11 (21%), and 9 (17%) vs 7 (13%) (p = .71); number (rate) of recurrent strokes after CAS was 2 (4%) vs 0 (0%). CONCLUSION: The rates of peri-procedural cerebral ischemic insult, long-term stent patency, and stroke recurrence indicate that no one carotid stent cell design is superior to the other. We suggest both OCS and CCS are reasonable options for the treatment of severe carotid stenosis.

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.

PURPOSE: Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be effective in stabilizing the disease progression and potentially preventing irreversible organ damage. We aimed to examine globotriaosylceramide (Gb3) deposits in patients' endomyocardial biopsies to understand the early pathogenesis of FD cardiomyopathy. METHODS: Immunofluorescent (IF) staining of Gb3 and lysosomal-associated membrane protein 1 (LAMP-1) was performed on endomyocardial biopsies of patients suspected of Fabry cardiomyopathy who had negative or only slight Gb3 accumulation determined by toluidine blue staining and electron microscopic examination. RESULTS: The IF staining results revealed that all patients examined had abundant Gb3 accumulation in their cardiomyocytes, including the ones who are negative for inclusion bodies. Furthermore, we found that early Gb3 deposits were mostly confined within lysosomes, while they appeared extralysosomally at a later stage. CONCLUSION: A significant amount of lysosomal Gb3 deposits could be detected by IF staining in cardiac tissue before the formation of inclusion bodies, suggesting the cardiomyocytes might have been experiencing cellular stress and damage early on, before the appearance of typical pathological changes of FD during the disease progression.

Evaluating cerebral hemodynamics using quantitative digital subtraction angiography and flat-detector computed tomography perfusion imaging: A comparative study in patients with carotid stenosis.

BACKGROUND: The efficacy of both quantitative digital subtraction angiography (QDSA) and flat-detector computed tomography perfusion (FD-CTP) is equivalent to that of magnetic resonance perfusion (MRP) in assessing perfusion deficits in carotid stenosis. This study evaluated the feasibility of using FD-CTP to monitor cerebral hemodynamics during carotid stenting. METHODS: Thirteen patients with extracranial carotid stenosis (>70%) were included. Both QDSA and two FD-CTP sessions were performed before and after carotid stenting. Cerebral circulation time (CCT) was defined as the difference between the time to peak (TTP) of the parietal vein and the cavernous internal carotid artery. For FD-CTP and MRP, regions of interest (ROIs) were placed in the middle cerebral artery territory at the basal ganglia level of both stenotic and contralateral hemispheres for measurement. The TTP ratio (rTTP) was defined as stenotic TTP divided by contralateral TTP; and ratio of cerebral blood volume (rCBV), ratio of mean transit time (rMTT), and ratio of cerebral blood flow (rCBF) were defined similarly. Both CCT and ratio perfusion parameters were compared during stenting. RESULTS: Before stenting, only rCBF (r = 0.73) and rTTP (r = 0.58) demonstrated correlations between FD-CTP and MRP; CCT correlated with only rMTT in MRP (r = 0.69). After stenting, only rCBF (r = 0.56) indicated a correlation between FD-CTP and MRP. Regarding cerebral flow after stenting, CCT (4.61 ± 1.6 s) was shortened, rMTT (1.12 ± 0.04) and rTTP (r = 1.05 ± 0.03) decreased, and rCBF (0.91 ± 0.16) increased significantly. CONCLUSION: FD-CTP provides a potentially more comprehensive hemodynamic assessment of parenchymal perfusion changes compared with QDSA during carotid stenting, but FC-CTP requires additional 18 min. FD-CTP confirmed that the normalization of cerebral hemodynamics began immediately and continued for 1-3 days.

Intra-Arterial Thrombolytic Therapy Is Not a Therapeutic Option for Filler-Related Central Retinal Artery Occlusion.

Cosmetic facial filler-related central retinal artery occlusion (CRAO) is a devastating complication of facial hyaluronic acid (HA) injection and can be managed by intra-arterial thrombolytic therapy (IATT). The authors report on a 20-year-old woman who developed unilateral CRAO due to facial HA injection and who, despite prompt IATT, lost vision. A review of the related literature found 14 other female patients who developed cosmetic facial filler-related CRAO and accepted IATT management. In no case was vision loss clinically improved. IATT is not an effective preventive treatment of dermal filler-associated CRAO. The authors suggest careful preprocedural patient selection to prevent this complication.

Prolonged cerebral circulation time is more associated with symptomatic carotid stenosis than stenosis degree or collateral circulation.

BACKGROUND AND PURPOSE: Current practice of revascularization for carotid stenosis (CS) primarily relies on symptoms and degree of stenosis. Other parameters, such as collateral circulation and cerebral circulation time (CCT), might influence the stroke risk in CS. This study was conducted to (1) investigate whether CCT is more associated with symptomatic CS than degree of stenosis and (2) elucidate the associations among the degree of stenosis, collateral status, and CCT. METHODS: From 2010 to 2016, 82 patients with unilateral CS were enrolled for DSA and divided into symptomatic and asymptomatic groups based on clinical presentation. CCT was defined as the difference between the time taken by the cavernous internal carotid artery and parietal vein to reach the maximal contrast medium intensities on lateral DSA. The degree of stenosis, collateral status, and CCT of the two groups were compared. Logistic regression analysis was performed to estimate the OR for symptomatic CS with the imaging variables. RESULTS: The symptomatic group had a significantly higher degree of stenosis and longer CCT. CCT (OR 1.95, p=0.013) was more associated with symptomatic CS than the degree of stenosis (OR 1.03, p=0.229), after adjustment for potential confounders-namely, age, sex, antithrombotic use, and collateral status. Symptomatic high grade CS with collaterals had a non-significantly shorter CCT than those without collaterals. CONCLUSIONS: DSA derived CCT is more reflective of the hemodynamic differences between symptomatic and asymptomatic CS than degree of stenosis. Collaterals may not effectively reduce CCT in symptomatic high grade CS.

Automatic flow analysis of digital subtraction angiography using independent component analysis in patients with carotid stenosis.

PURPOSE: Current time-density curve analysis of digital subtraction angiography (DSA) provides intravascular flow information but requires manual vasculature selection. We developed an angiographic marker that represents cerebral perfusion by using automatic independent component analysis. MATERIALS AND METHODS: We retrospectively analyzed the data of 44 patients with unilateral carotid stenosis higher than 70% according to North American Symptomatic Carotid Endarterectomy Trial criteria. For all patients, magnetic resonance perfusion (MRP) was performed one day before DSA. Fixed contrast injection protocols and DSA acquisition parameters were used before stenting. The cerebral circulation time (CCT) was defined as the difference in the time to peak between the parietal vein and cavernous internal carotid artery in a lateral angiogram. Both anterior-posterior and lateral DSA views were processed using independent component analysis, and the capillary angiogram was extracted automatically. The full width at half maximum of the time-density curve in the capillary phase in the anterior-posterior and lateral DSA views was defined as the angiographic mean transient time (aMTT; i.e., aMTTAP and aMTTLat). The correlations between the degree of stenosis, CCT, aMTTAP and aMTTLat, and MRP parameters were evaluated. RESULTS: The degree of stenosis showed no correlation with CCT, aMTTAP, aMTTLat, or any MRP parameter. CCT showed a strong correlation with aMTTAP (r = 0.67) and aMTTLat (r = 0.72). Among the MRP parameters, CCT showed only a moderate correlation with MTT (r = 0.67) and Tmax (r = 0.40). aMTTAP showed a moderate correlation with Tmax (r = 0.42) and a strong correlation with MTT (r = 0.77). aMTTLat also showed similar correlations with Tmax (r = 0.59) and MTT (r = 0.73). CONCLUSION: Apart from vascular anatomy, aMTT estimates brain parenchyma hemodynamics from DSA and is concordant with MRP. This process is completely automatic and provides immediate measurement of quantitative peritherapeutic brain parenchyma changes during stenting.

MRI features of pediatric intracranial germ cell tumor subtypes.

Intracranial germ cell tumors differ in histology and location, and require different clinical management strategies. We characterized the imaging features that may aid pre-operative differentiation of intracranial germinomas and non-germinomatous germ cell tumors (NGGCTs). This retrospective study analyzed 85 patients with intracranial germ cell tumors and adequate preoperative or pretreatment MRIs between 2000 and 2013 at our institution. Pretreatment MRI characteristics, apparent diffusion coefficient (ADC) values, tumor histopathology, and patient outcomes were compared. NGGCTs occurred in the pineal region and cerebral hemispheres more often than germinomas; all bifocal lesions were germinomas. NGGCTs (36.6 ± 17.0 mm) were significantly larger than germinomas (25.7 ± 11.6 mm; P = 0.002). The presence of pure solid tumor (45.5 vs. 20.0%, P = 0.033) and an infiltrative margin (20.0 vs. 3.3%, P = 0.035) were significantly more common in germinomas than NGGCTs. The presence of intratumoral T1 hyperintense foci (66.7 vs. 10.9%, P < 0.001) and moderate/marked enhancement (86.7 vs. 50.9%, P < 0.001) were significantly more common in NGGCTs than in germinomas. Mean ADCmean values (×10-3 mm2/s) were significantly lower in germinomas (1.113 ± 0.415) than in NGGCTs (2.011 ± 0.694, P = 0.001). Combined a lack of T1 hyperintense foci and an ADCmean threshold value (1.143 × 10-3 mm2/s) had the highest specificity (91.3%) and positive predictive value (92.3%), while the combination of lack of a T1 hyperintensense foci, no/mild enhancement, and an ADCmean threshold value had 100% sensitivity and 100% negative-predictive value for discriminating germinomas from NGGCTs. Pre-operative conventional MRI characteristics and diffusion-weighted MRI help clinicians to assess patients with intracranial germ cell tumors. Tumor size, location, T1 hyperintense foci, intratumoral cystic components, tumor margin and enhancing patterns demonstrate contrast between germinomas and NGGCTs. Serum tumor markers and adjunctive combination with T1 hyperintensity and/or enhancing pattern with ADC offer potential in preoperative differentiating intracranial germinomas and NGGCTs.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness. Clinical, laboratory, and neuroimaging data were analyzed. RESULTS: Fourteen newborns were diagnosed with GA-1 (incidence: 1/106,474). C5DC concentration was clearly increased after carnitine loading in the affected newborns, but not in false-positive newborns (p = 0.004), indicating that this test is useful as an adjuvant diagnostic method. Eleven patients followed in our hospital were enrolled, namely nine NBS patients and two patients diagnosed clinically. IVS10-2A>C was the most common mutation. Two novel mutations (T36fs and N291K) were identified. Pendular nystagmus was found in two pediatric GA-1 patients. The corresponding pathology was optic atrophy in one patient, but remained undetermined in the other patient. The frequency of encephalopathic crisis decreased substantially following NBS. Among patients diagnosed by NBS, cognitive functioning was better among patients with good compliance than patients with poor compliance (p = 0.03). Abnormalities were detected by brain MRI including diffusion-weighted imaging and apparent diffusion coefficient maps; these affected various brain regions at different stages of the disease. Basal ganglion injuries occurred after an encephalopathic crisis. White matter disease was prevalent among older patients, either with or without an encephalopathic crisis. CONCLUSION: Early diagnosis by newborn screening followed by full compliance with treatment guidelines is important to a good outcome.

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.

BACKGROUND: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015). RESULTS: Twenty-five IVS4 (19 males) and 12 (four males) classical Fabry patients underwent MRI at a median (range) age of 60.7 (45.0-70.4) and 43.0 (18.0-61.4) years, respectively. All patients received agalsidase alfa enzyme replacement therapy; two (16.7%) classical Fabry patients underwent MRI before treatment start. The pulvinar sign occurred in eight (32.0%; seven males) IVS4 and six (50.0%; three males) classical Fabry patients. Infarction occurred in eight (32.0%) IVS4 and four (33.3%) classical Fabry patients. Fazekas scores of 0, 1, 2, and 3 were found for 15 (60.0%), seven (28.0%), two (8.0%), and one (4.0%) of the IVS4 patients and for six (50.0%), four (33.3%), two (16.7%), and 0 classical Fabry patients, respectively. Abnormal height bifurcation of the basilar artery was observed in 40.0% of IVS4 and 58.3% of classical Fabry patients; abnormal laterality was observed in 4.0% of IVS4 and 16.7% of classical Fabry patients. Median (range) basilar artery diameter was 2.7 (1.4-4.0) mm in IVS4 and 3.2 (2.3-4.7) mm in classical Fabry patients (P = 0.0293); vascular stenosis was noted in 8.3% of IVS4 patients but in no classical Fabry patients. CONCLUSIONS: A similar range of MRI findings was found for both IVS4 and classical Fabry patients. Notably, basilar artery diameter was larger in classical Fabry patients than IVS4 patients.

Thyroid transcription factor-1 distinguishes subependymal giant cell astrocytoma from its mimics and supports its cell origin from the progenitor cells in the medial ganglionic eminence.

Subependymal giant cell astrocytoma is a benign brain tumor mostly associated with tuberous sclerosis complex. However, it may be misinterpreted as other high-grade brain tumors due to the presence of large tumor cells with conspicuous pleomorphism and occasional atypical features, such as tumor necrosis and endothelial proliferation. In this study, we first investigated thyroid transcription factor-1 (TTF-1) expression in a large series of subependymal giant cell astrocytomas and other histologic and locational mimics to validate the diagnostic utility of this marker. We then examined TTF-1 expression in non-neoplastic brain tissue to determine the cell origin of subependymal giant cell astrocytoma. Twenty-four subependymal giant cell astrocytoma specimens were subjected to tissue microarray construction. For comparison, a selection of tumors, including histologic mimics (21 gemistocytic astrocytomas and 24 gangliogliomas), tumors predominantly occurring at the ventricular system (50 ependymomas, 19 neurocytomas, and 7 subependymomas), and 134 astrocytomas (3 pleomorphic xanthoastrocytomas, 45 diffuse astrocytomas, 46 anaplastic astrocytomas, and 40 glioblastomas) were used. Immunohistochemical stain for TTF-1 was positive in all 24 subependymal giant cell astrocytomas, whereas negative in all astrocytomas, gangliogliomas, ependymomas, and subependymomas. Neurocytomas were positive for TTF-1 in 4/19 (21%) of cases using clone 8G7G3/1 and in 9/19 (47%) of cases using clone SPT24. In the three fetal brains that we examined, TTF-1 expression was seen in the medial ganglionic eminence, a transient fetal structure between the caudate nucleus and the thalami. There was no BRAFV600E mutation identified by direct sequencing in the 20 subependymal giant cell astrocytomas that we studied. In conclusion, TTF-1 is a useful marker in distinguishing subependymal giant cell astrocytoma from its mimics. Expression of TTF-1 in the fetal medial ganglionic eminence indicates that subependymal giant cell astrocytoma may originate from the progenitor cells in this region.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

BACKGROUND: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. OBJECTIVES: The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD. METHODS: To date, 916,383 newborns have been screened for FD in Taiwan, including more than 1,200 individuals with the common, later onset IVS4+919G>A (IVS4) mutation. Echocardiography was performed in 620 adults with the IVS4 mutation to analyze the prevalence of left ventricular hypertrophy (LVH), and gadolinium-enhanced cardiac magnetic resonance imaging was performed in 129 patients with FD, including 100 IVS4 adults. RESULTS: LVH was observed in 67% of men and 32% of women older than 40 years. Imaging evidenced significant late gadolinium enhancement in 38.1% of IVS4 men and 16.7% of IVS4 women with the IVS4 mutation but without LVH. Seventeen patients underwent endomyocardial biopsies, which revealed significant globotriaosylceramide substrate accumulation in their cardiomyocytes. CONCLUSIONS: Significant cardiomyocyte substrate accumulation in IVS4 patients led to severe and irreversible cardiac fibrosis before development of LVH or other significant cardiac manifestations. Thus, it might be too late to start enzyme replacement therapy after the occurrence of LVH or other significant cardiac manifestations in patients with later onset FD. This study also indicated the importance of newborn screening for early detection of the insidious, ongoing, irreversible cardiac damage in patients with later onset FD.

Evolutionary magnetic resonance appearance of renal cell carcinoma after percutaneous cryoablation.

OBJECTIVE: To determine the evolutionary MRI appearance of renal cell carcinoma (RCC) following cryoablation. METHODS: For this institution review board-approved study, we recruited patients with biopsy-proven RCC and treated them with percutaneous cryoablation between November 2009 and October 2014. Two radiologists retrospectively reviewed the pre-procedural and follow-up MRI. The findings included tumour sizes, signal intensities on T1 weighted imaging (T1WI), T2 weighted imaging (T2WI), diffusion-weighted imaging, apparent diffusion coefficient (ADC) map and contrast enhancement patterns. The ADC values of the tumours before and after treatment were measured. RESULTS: A total of 26 patients were enrolled. The ablated tumours exhibited predominantly high signals on T1WI at 1-9-month follow-up (47.1% strong hyperintense at 3 months) and subsequently returned to being isointense. In T2WI, the signals of the ablated tumours were highly variable during the first 3 months and became strikingly hypointense after 6 months (58.3% strong hypointense at 6 months). Diffusion restriction was prominent during the first 3 months (lowest ADC: 0.62 ± 0.29 × 10(-3) mm(2) s(-1) at 1 month). Contrast enhancement persisted up to 6 months after the procedure. The residual enhancement gradually increased in the dynamic scan and was most prominent in the delay phase. CONCLUSION: The MRI of the cryoablated renal tumour follows a typical evolutionary pattern. ADVANCES IN KNOWLEDGE: Familiarity of practitioners with the normal post-cryoablation change of RCC on MRI can enable the early detection and prevention of tumour recurrence.

Endovascular Management of Post-Irradiated Carotid Blowout Syndrome.

PURPOSE: To retrospectively evaluate the clinical and technical factors related to the outcomes of endovascular management in patients with head-and-neck cancers associated with post-irradiated carotid blowout syndrome (PCBS). MATERIALS AND METHODS: Between 2000 and 2013, 96 patients with PCBS underwent endovascular management. The 40 patients with the pathological lesions located in the external carotid artery were classified as group 1 and were treated with embolization. The other 56 patients with the pathological lesions located in the trunk of the carotid artery were divided into 2 groups as follows: group 2A comprised the 38 patients treated with embolization, and group 2B comprised the 18 patients treated with stent-graft placement. Fisher's exact test was used to examine endovascular methods, clinical severities, and postprocedural clinical diseases as predictors of outcomes. RESULTS: Technical success and immediate hemostasis were achieved in all patients. The results according to endovascular methods (group 1 vs 2A vs 2B) were as follows: technical complication (1/40[2.5%] vs 9/38[23.7%] vs 9/18[50.0%], P = 0.0001); rebleeding (14/40[35.0%] vs 5/38[13.2%] vs 7/18[38.9%]), P = 0.0435). The results according to clinical severity (acute vs ongoing PCBS) were as follows: technical complication (15/47[31.9%] vs 4/49[8.2%], P = 0.0035); rebleeding (18/47[38.3%] vs 8/49[16.3%], P = 0.0155). The results according to post-procedural clinical disease (regressive vs progressive change) were as follows: alive (14/21[66.7%] vs 8/75[10.7%], P<0.0001); survival time (34.1±30.6[0.3-110] vs 3.6±4.0[0.07-22] months, P<0.0001). CONCLUSION: The outcomes of endovascular management of PCBS can be improved by taking embolization as a prior way of treatment, performing endovascular intervention in slight clinical severity and aggressive management of the post-procedural clinical disease.