Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry.

INTRODUCTION/AIMS: VCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features progressive muscle weakness, fatty infiltration, and disorganized bone structure in Pagetic bones. The aim of this study is to utilize dual-energy x-ray absorptiometry (DXA) parameters to examine it as a biomarker of muscle and bone disease in MSP1. METHODS: DXA scans were obtained in 28 patients to assess body composition parameters (bone mineral density [BMD], T-score, total fat, and lean mass) across different groups: total VCP disease (n = 19), including myopathy without Paget's ("myopathy"; n = 12) and myopathy with Paget's ("Paget"; n = 7), and unaffected first-degree relatives serving as controls (n = 6). RESULTS: In the VCP disease group, significant declines in left hip BMD and Z-scores were noted versus the control group (p ≤ .03). The VCP disease group showed decreased whole body lean mass % (p = .04), and increased total body fat % (p = .04) compared to controls. Subgroup comparisons indicated osteopenia in 33.3% and osteoporosis in 8.3% of the myopathy group, with 14.3% exhibiting osteopenia in the Paget group. Moreover, the Paget group displayed higher lumbar L1-L4 T-score values than the myopathy group. DISCUSSION: In MSP1, DXA revealed reduced bone and lean mass, and increased fat mass. These DXA insights could aid in monitoring disease progression of muscle loss and secondary osteopenia/osteoporosis in MSP1, providing value both clinically and in clinical research.

Atrial fibrillation is associated with higher first pass effect following thrombectomy for large vessel occlusion.

BACKGROUND: First pass effect (FPE), defined as single-pass complete or near complete reperfusion during endovascular thrombectomy (EVT) for large vessel occlusion (LVO) strokes, is a critical performance metric. Atrial fibrillation (AF)-related strokes have different clot composition compared with non-AF strokes, which may impact thrombectomy reperfusion results. We compared FPE rates in AF and non-AF stroke patients to evaluate if AF-related strokes had higher FPE rates. METHODS: We conducted a post-hoc analysis of the DIRECT-SAFE trial data, including patients with retrievable clots on the initial angiographic run. Patients were categorized into AF and non-AF groups. The primary outcome was the presence or absence of FPE (single-pass, single-device resulting in complete/near complete reperfusion) in AF and non-AF groups. We used multivariable logistic regression to examine the association between FPE and AF, adjusting for thrombolysis pre-thrombectomy and clot location. RESULTS: We included 253 patients (67 with AF, 186 without AF). AF patients were older (mean age: 74 years vs 67.5 years, p=0.001), had a higher proportion of females (55% vs 40%, p=0.044), and experienced more severe strokes (median National Institutes of Health Stroke Scale (NIHSS) score: 17 vs 14, p=0.009) than non-AF patients. No differences were observed in thrombolytic agent usage, time metrics, or clot location. AF patients achieved a higher proportion of FPE compared with non-AF patients (55.22% vs 37.3%, adjusted odds ratio 2.00 (95% CI 1.13 to 3.55), p=0.017). CONCLUSIONS: AF-related strokes in LVO patients treated with EVT were associated with FPE. This highlights the need for preparedness for multiple passes and potential adjuvant/rescue therapy in non-AF-related strokes.

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center.

OBJECTIVE: Hemophilia A (HA) is an X-linked recessive bleeding disease caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII). Available treatment to replenish the missing factor may not reach a good outcome for all patients because of potential complications that include the development of inhibitor antibodies directed against factor VIII. Therefore, the prevention of transmitting pathogenic mutations to the next generation is the best solution for this disease. Preimplantation genetic testing for a monogenic disorder (PGT-M) has become a standard method to prevent the transmission of monogenic heritable disease. The gold standard of the molecular technique used for PGT-M nowadays is the co-amplification of the polymorphic microsatellite linkage markers that use microsatellite DNA technique that overcomes the limitation of other methods. The important issue of this technique is the definition of markers that are specific for each allele on different loci. Each gene locus needs a characteristic design to allow accurate diagnosis that can be applied on PGT-M due to the limited quantity of DNA available. Here we present our study of four specific self-designed linked polymorphic markers applied on screening the embryos before implantation for hemophilia A families in Vietnam. MATERIAL AND METHODS: In this study, we investigated the feasibility of application and diagnostic value of 4 STR loci (FXS1108, DXS9897, F8int22, DXS9901) in the intragenic or neighbouring regions of the F8 gene. 35 hemophilia A families were recruited for STR analysis to define at least two characteristic heterologous markers for each family and 12 cases of pre-implantation genetic testing (PGT-M) for carrier mothers were performed. RESULT: All 4 of these loci (FXS1108, DXS9897, F8int22, DXS9901) were found practical and useful for preimplantation genetic testing (PGT-M). All 12 cases of PGT-M using the method had informative STR results and correct diagnosis was achieved. 9 out of the 12 mothers (75%) were implanted with 1-2 thawed embryos after the biopsy resulting in the birth of 5 healthy babies (55%). CONCLUSION: We conclude that specific 4 STR markers for rapid pre-implantation genetic testing of hemophilia A can be successfully applied with high confidence and accuracy in clinical settings. The results of the study provide solid evidence confirming that the microsatellite DNA technique is a highly reliable method, suitable for hemophilia A families wishing to determine carrier status or having healthy babies.

Imaging of cryptococcus neoformans infection in breasts: A case report.

There have been few reports on the imaging characteristics of cryptococcus neoformans (C. neoformans) infection of the breast. Herein, we reported the imaging features of C. neoformans infection of the breast in a 41-year-old woman with immune thrombocytopenic purpura. Bilateral, diffuse, hyperechoic, and well-defined margin lesions were observed on breast ultrasounds. In addition, a global asymmetry in the left breast, and a focal asymmetry in the right breast were observed on mammograms. Breast fine needle aspiration and biopsy results revealed a C. neoformans infection. After 5 months of treatment with oral fluconazole and amphotericin B, the lesion on the right breast disappeared on repeated-breast ultrasounds.

A rare case of lipomatous pseudohypertrophy of the pancreas.

Lipomatous pseudohypertrophy of the pancreas is a rare disease with unknown etiology, and the pancreas parenchyma is replaced by pancreatic parenchyma by fat tissue. In this article, we aimed to report the case of a 26-year-old male patient admitted to hospital with loss of appetite for 6 months. Abdominal computed tomography (CT) and magnetic resonance imaging (MRI) scans showed diffuse enlargement and fatty replacement over the whole pancreas, with scattered remnants of pancreatic parenchyma. Histologic results defined lipomatous pseudohypertrophy of the pancreas. To summarize, this case report is to put forward this extremely rare presentation and to sensitize clinicians that this entity can be a cause of exocrine pancreatic insufficiency, which requires patient follow-up for the appropriate treatment.

IgG4-Related Sclerosing Cholangitis Mimicking Cholangiocarcinoma.

IgG4-related sclerosing cholangitis (IgG4-SC) is a relatively newly identified disease that is frequently associated with autoimmune pancreatitis. The differential diagnosis between cholangiocarcinoma, primary sclerosing cholangitis, and IgG4-SC can be challenging due to significant overlap among the clinical and imaging characteristics. We report the case of a 71-year-old woman who was diagnosed with IgG4-related disease based on increased serum IgG4 levels, imaging, and clinical presentation, which showed systemic involvement, including sclerosing cholangitis and kidneys. The patient presented with chronic jaundice. Magnetic resonance imaging revealed bile duct strictures and the dilatation of upstream bile ducts, smooth wall thickening with uniform enhancement in the delayed phase, and no vascular infiltration. Multiple low-density, wedge-shaped areas were identified in both kidneys, which were hypointense on T2-weighted images and hyperintense on diffusion-weighted images. The serum IgG4 levels of this patient were elevated to nearly 10-fold the normal upper limit. A diagnosis of IgG4-SC associated with IgG4-related kidney was made. Based on this case, pre-surgery IgG4 serum treatment in patients with non-malignant bile duct stenosis was recommended to exclude IgG4-SC.

Comparing the Efficacy of Radiofrequency Ablation Versus Laser Ablation for Chronic Venous Insufficiency in the Lower Extremities: a Vietnamese Report.

INTRODUCTION: Chronic venous insufficiency (CVI) is a chronic condition, triggered by reflux through the saphenous vein network. AIM: To determine the efficacy of endovenous laser ablation (LA) and radiofrequency ablation (RFA) for CVI treatment in the lower extremities, at the Bach Mai Radiology Center. METHODS: This retrospective study was approved by the institutional review board of Bach Mai Hospital. The study recruited 49 people, from August 2016 to April 2018, with recurrent venous insufficiency in the lower extremities and measured 56 ablated veins. RESULTS: In this study, 8 patients (10 veins, with a mean diameter of 5.83 ± 0.96 mm) were treated with RFA, and 41 patients (46 veins, with a mean diameter of 7.96 ± 3.47 mm) were treated with LA. The occlusion rates for LA- and RFA-treated veins were very effective, at 95.7% and 90%, respectively. No significant differences in occlusion rates or clinical improvements were observed between the two ablation methods. On the first day post-treatment, the visual analog score (VAS) value for the LA group was significantly higher than that for the RFA group. Furthermore, ecchymosis, 1 day after treatment, and hyperpigmentation, paresthesia, and numbness, 1 month after treatment, were only observed in the LA group. CONCLUSION: Both LA and RFA were minimally-invasive and safe therapies. No serious complications requiring further interventions were reported and the treatment effectively improved the clinical symptoms of patients. Based on our study, we recommend that RFA should be considered for moderate dilated saphenous vein cases, whereas LA should be indicated for large dilated saphenous vein cases, with or without aneurysm.

Flow diverter stent for treatment of cerebral aneurysms: A report of 130 patients with 134 aneurysms.

BACKGROUND: This study aims to report our experience with cerebral aneurysms, which may improve in the treatment with the flow-diverter stent and follow up. METHODS: This study was conducted in a consecutive series of 130 patients. 134 procedures were performed for treating these patients in Hanoi Medical University Hospital and Bach Mai Hospital from January 2012 to April 2017. 143 flow diverter stents (Pipeline, FRED and SILK) were used. Aneurysm morphology, stent patency and cerebral parenchyma before and after intervention were analyzed on images of digital subtraction angiography (DSA), computed tomography (CT) and magnetic resonance (MR). The follow-up data after 3-6 months and 12 months were recorded. RESULTS: In 130 patients (31 men, 99 women), aneurysms of internal carotid artery were mostly common (92.6%), especially in cavernous (35.1%) and in para-ophthalmic (40.3%) segments. 83 cases (61.9%) had wide-neck aneurysms, and 16 cases (11.9%) had multiple aneurysms, and only 5 cases (3.7%) had blister-liked aneurysms. Endovascular treatment was successfully performed at rate of 94.8%. In 3 patients, the stent could not be delivered. Mortality and morbidity rates were 1.5% and 3.7%, respectively. MRI and MSCT follow-up at 3 months showed complete or incomplete occlusions of aneurysms was 7.4% or 17.5%, respectively. 3 patients experienced a thromboembolic event (4.3%). CONCLUSIONS: Intracranial aneurysms of cavernous and para-ophthalmic segments of internal carotid artery are mostly common with wide-neck and multi aneurysms. Deployment of flow diverter stent is safe and effective with high rate of successful and low procedural complications.

Conventional digital subtractional vs non-invasive MR angiography in the assessment of brain arteriovenous malformation.

OBJECTIVES: Digital subtractional angiography (DSA) is the standard method for diagnosis, assessment and management of arteriovenous malformation in the brain. Conventional DSA (cDSA) is an invasive imaging modality that is often indicated before interventional treatments (embolization, open surgery, gamma knife). Here, we aimed to compare this technique with a non-invasive MR angiography (MRI DSA) for brain arteriovenous malformation (bAVM). PATIENTS AND METHODS: Fourteen patients with ruptured brain AVM underwent embolization treatment pre-operation. Imaging was performed for all patients using MRI (1.5 T). After injecting contrast Gadolinium, dynamic MRI was performed with 40 phases, each phase of a duration of 1.2 s and having 70 images. The MRI results were independently assessed by experienced radiologist blinded to the cDSA. RESULTS: The AVM nidus was depicted in all patients using cDSA and MRI DSA; there was an excellent correlation between these techniques in terms of the maximum diameter and Spetzler Martin grading. Of the fourteen patients, the drainage vein was depicted in 13 by both cDSA and MRI DSA showing excellent correlation between the techniques used. CONCLUSION: MRI DSA is a non-invasive imaging modality that can give the images in dynamic view. It can be considered as an adjunctive method with cDSA to plan the strategy treatment for bAVM.