Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD.     

浅谈委中穴与承山穴针刺深度的临床应用

李志道教授经过50余年临床实践研究,结合解剖学相关知识,发现委中、承山二穴在针刺深度与传统认识有所不同。其中,委中穴在刺入0. 5~0. 8寸,承山穴在刺入2. 0~3. 0寸时最易达到循经得气的效果,通过调整针尖方向还可较准确达到气至病所的效果,且针感与相应神经分布区域相吻合。该针感在某些疾病,尤其神经压迫相关症状的治疗中疗效明显,且优于传统教材所述针刺深度。     

乳腺密度对浸润性小叶癌术前MRI评估的影响

目的:探讨MRI在浸润性小叶癌(ILC)术前诊断中的应用价值，并评估乳腺密度对其影响。方法:选取75例术前30天内行MRI检查的I-Ⅲ期ILC患者列入本项研究，根据腺体含量评估乳腺密度，在MRI下测量肿瘤大小，并对比其与病理大小的一致性。结果:75例入组患者中26例（34.7%）患者经MRI评估发现新的可疑病灶，20例（26.7%）患者改变了手术方式。高密度乳腺型患者额外病灶检出率明显高于低密度乳腺型患者（51.6% vs 22.7%，P=0.010）。MRI评估肿瘤大小在低密度乳腺型患者中容易被低估（36.4% vs 12.9%，P=0.024），在高密度乳腺型患者中容易被高估（6.8% vs 29.0%，P=0.010），但两组患者与病理大小一致性的比例无明显差异。结论:ILC患者术前乳腺MRI检查能够提高额外恶性肿瘤的检出率，而乳腺密度是影响MRI评估的重要因素。     

Improving State-Mandated Breast Density Notifications

PurposeEffective written communication directly affects health care outcomes. Since 2016, the complex language of state-mandated breast density notifications (BDNs) has been challenged, because it is perceived to be beyond the comprehension of most patients. The aim of this study was to assess whether a revised BDN written at a lower reading grade level improves understanding compared with the current state-mandated BDN.MethodsA revised notification with similar content to the current state-mandated BDN was developed. Both notifications were presented to patients for direct comparison, using a paper survey asking questions that evaluated patients’ perceptions and convictions associated with breast density. Surveys were distributed at four outpatient imaging centers to screening mammography patients.ResultsThe current BDN’s mean readability metric was 13.4, and that of the revised BDN was 6.6. Five hundred surveys were analyzed. Survey data demonstrated that 56.6% of all women perceived that dense breast tissue results indicated a “high” associated lifetime breast cancer risk from the current state-mandated BDN compared with only 2.2% with the revised notification (P < .001). Nearly all women were more likely to initiate discussions with their providers regarding their breast tissue density after reading the revised notification (96.0%) as opposed to the current state-mandated BDN (32.8%; P < .001).ConclusionsA significant portion of women misinterpret the intended messages of the current state-mandated BDN. Thus, a revised notification at a lower reading grade level may improve understanding of breast density, leading to improved individualized breast cancer screening for women with dense breasts.     

Morphological,Functional, and Tissue Characterization of Silent Myocardial Involvement in Patients With Primary Biliary Cholangitis

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Fractal dimension in CT low attenuation areas is predictive of long-term oxygen therapy initiation in COPD patients: Results from two observational cohort studies

BackgroundSome chronic obstructive pulmonary disease (COPD) patients develop hypoxemia with disease progression, with some even requiring long-term oxygen therapy (LTOT). Lung function, especially diffusing capacity, and the annual decline in PaO₂, are reported to be predictive factors of chronic respiratory failure. However, the association between lung morphometry evaluated using computed tomography (CT) images and LTOT initiation is unknown.MethodsWe retrospectively evaluated the relationship between clinical indices, including pulmonary function, body mass index (BMI), and CT parameters, at baseline and LTOT initiation in two prospective COPD cohorts. In the Nara Medical University cohort (n = 76), the low attenuation area (LAA) and its fractal dimension (fractal D) were adapted as the indices for parenchymal destruction in CT images. The association between these CT measurements and LTOT initiation was replicated in the Kyoto University cohort (n = 130).ResultsIn the Nara Medical University cohort, lower BMI (hazard ratio [HR]:0.70, p = 0.006), lower % diffusing capacity (%DLCO) (HR: 0.92, p = 0.006), lower %DLCO/VA (HR, 0.90, p = 0.008), higher RV/TLC (HR, 1.26, p = 0.012), higher LAA% (HR: 1.18, p = 0.001), and lower fractal D (HR: 3.27 × 10^?8, p < 0.001) were associated with LTOT initiation. Multivariate analysis in the Kyoto University cohort confirmed that lower %DLCO and lower fractal D were independently associated with LTOT initiation, whereas LAA% was not.ConclusionFractal D, which is the index for morphometric complexity of LAA in CT analysis, is predictive of LTOT initiation in COPD patients.     

How structural and functional MRI can inform dual-site tACS parameters: A case study in a clinical population and its pragmatic implications

BackgroundAbnormalities in frontoparietal network (FPN) were observed in many neuropsychiatric diseases including substance use disorders. A growing number of studies are using dual-site-tACS with frontoparietal synchronization to engage this network. However, a computational pathway to inform and optimize parameter space for frontoparietal synchronization is still lacking. In this case study, in a group of participants with methamphetamine use disorders, we proposed a computational pathway to extract optimal electrode montage while accounting for stimulation intensity using structural and functional MRI.MethodsSixty methamphetamine users completed an fMRI drug cue-reactivity task. Four main steps were taken to define electrode montage and adjust stimulation intensity using 4x1 high-definition (HD) electrodes for a dual-site-tACS; (1) Frontal seed was defined based on the maximum electric fields (EF) predicted by simulation of HD montage over DLPFC (F3/F4 in EEG 10–10), (2) frontal seed-to-whole brain context-dependent correlation was calculated to determine connected regions to frontal seeds, (3) center of connected cluster in parietal cortex was selected as a location for placing the second set of HD electrodes to shape the informed montage, (4) individualized head models were used to determine optimal stimulation intensity considering underlying brain structure. The informed montage was compared to montages with large electrodes and classic frontoparietal HD montages (F3-P3/F4-P4) in terms of tACS-induced EF and ROI-to-ROI task-based/resting-state connectivity.ResultsCompared to the large electrodes, HD frontoparietal montages allow for a finer control of the spatial peak fields in the main nodes of the FPN at the cost of lower maximum EF (large-pad/HD: max EF[V/m] = 0.37/0.11, number of cortical sub-regions that EF exceeds 50% of the max = 77/13). For defining stimulation targets based on EF patterns, using group-level head models compared to a single standard head model results in comparable but significantly different seed locations (6.43 mm Euclidean distance between the locations of the frontal maximum EF in standard-space). As expected, significant task-based/resting-state connections were only found between frontal-parietal locations in the informed montage. Cue-induced craving score was correlated with frontoparietal connectivity only in the informed montage (r = ?0.24). Stimulation intensity in the informed montage, and not in the classic HD montage, needs 40% reduction in the parietal site to reduce the disparity in EF between stimulation sites.ConclusionThis study provides some empirical insights to montage and dose selection in dual-site-tACS using individual brain structures and functions and proposes a computational pathway to use head models and functional MRI to define (1) optimum electrode montage for targeting FPN in a context of interest (drug-cue-reactivity) and (2) proper transcranial stimulation intensity.