Quantification of retinal nerve fiber layer thickness reduction associated with a relative afferent pupillary defect in asymmetric glaucoma

AIM: The relative afferent pupillary defect (RAPD) is an important clinical sign of asymmetrical retinal ganglion cell and axonal damage. Although glaucoma essentially affects bilateral eyes, a subset of patients manifests asymmetrical glaucomatous optic neuropathy (GON), which exhibits an RPAD in the more advanced eyes. However, the degree to which axonal loss occurs before an RAPD is clinically detectable has not been substantiated. The purpose of this study is to assess the relationship between the depth of a clinically detectable RAPD and the reduction ratio of retinal nerve fiber layer (RNFL) thickness in the more advanced eyes relative to that in the contralateral less advanced eyes of patients with asymmetrical GON. METHODS: Enrolled were 29 consecutive glaucoma patients with the clinically detectable RAPD. An RAPD was quantified by placing log-scaled neutral density filters over the less advanced eyes while performing the swinging flashlight test. Average RNFL thickness was determined using the Fast RNFL thickness programme of optical coherence tomography 3000. Correlation coefficient and Linear regression analyses were used in assessing the relationship between the RAPD and the ratio of RNFL thickness in the more advanced eyes relative to that in the less advanced. RESULTS: RAPD ranged from 0.6 to 2.4 log units. The log-scaled RAPD had a statistically significantly inversed correlation with the average RNFL thickness ratio (r(s) = -0.729, p<0.0001). Linear regression analysis found an equation that the average RNFL thickness ratio in the more affected eyes relative to that in the less advanced (%) = (0.827-0.169xRAPD (log units))x100 (R(2) = 0.557, p<0.0001). CONCLUSIONS: When an RAPD is clinically detected, the RNFL thickness in the more advanced eyes was in average reduced to about 73% of that in the less advanced.     

Early-life educational attainment,APOE ε4 alleles,and incident dementia risk in late life

GeroScience - We examined the interactions between educational attainment and genetic susceptibility on dementia risk among adults over 60&nbsp;years old. A total of 174,161 participants were...     

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome

Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome. We identified the deletion junction, and implicate a non-allelic homologous recombination (NAHR) between two LINE-1 (L1) elements as the causative mechanism. Furthermore, the deletion junctions were different between the paternal and maternal mutant alleles, suggesting the occurrence of two independent NAHR events in the ancestors of each parent. The data suggest that the region around exon 9 might be a hot spot of L1-mediated NAHR.     

Predictors for typical asthma onset from cough variant asthma.

Cough variant asthma is recognized to be a precursor of asthma or preasthmatic state because nearly 30% patients with cough variant asthma develop typical asthma within several years. However, predictors for risk of typical asthma onset from cough variant asthma are unknown. Forty-one patients with cough variant asthma (median age 50 years, 13 men and 28 women), who had undertaken spirometry, bronchial reversibility test, methacholine provocation test, measurements of peripheral blood eosinophil count, serum total IgE, and specific IgE to common allergens, and induced sputum eosinophil count at presentation, were followed up with special emphasis on typical asthma onset during 1 year or more (median 4 years, range 1-12.4). Long-term inhaled corticosteroids (ICS) were taken in 27 patients. Univariate and multivariate logistic analyses were performed to determine the predictors for typical asthma onset. Asthma onset was recognized in 7 patients. Bronchial hyperresponsiveness, peripheral blood eosinophil count, and no use of ICS were significant predictors for the typical asthma onset by univariate analysis. However, only bronchial hyperresponsiveness was the significant predictor when multivariate analysis was used (adjusted OR 0.028, 95% CI 0.001-0.783, p = 0.0355). Bronchial hyperresponsiveness may be the most important predictor for risk of typical asthma onset from cough variant asthma.     

DXA-Rectified Appendicular Lean Mass: Development of Ultrasound Prediction Models in Older Adults

Objective

Dual-energy X-ray absorptiometry (DXA)-derived appendicular lean soft tissue mass (aLM) is used to diagnose sarcopenia. However, DXA-derived aLM includes non-skeletal muscle components, such as fat-free component of adipose tissue fat cell. These components, if not accounted for, could falsely inflate the aLM in individuals with a high amount of adipose tissue mass. B-mode ultrasound accurately measures muscle size in older adults. We sought to develop regression-based prediction equations for estimating DXA-rectified appendicular lean tissue mass (i.e. DXA-derived aLM minus appendicular fat-free adipose tissue (aFFAT); abbreviated as aLM minus aFFAT) using B-mode ultrasound.

Design

Cross-sectional study.

Measurements

Three hundred and eighty-nine Japanese older adults (aged 60 to 79 years) volunteered in the study. aLM was measured using a DXA, and muscle thickness (MT) was measured using ultrasound at nine sites. An ordinary least-squares multiple linear regression model was used to predict aLM minus aFFAT from sex, age and varying muscle thicknesses multiplied by height. Based on previous studies, we chose to use 4 MT sites at the upper and lower extremities (4-site MT model) and a single site (1-site MT model) at the upper extremity to develop prediction models.

Results

The linear prediction models (4 site MT model; R² = 0.902, adjusted R² = 0.899, and 1-site MT model; R² = 0.868, adjusted R² = 0.866) were found to be stable and accurate for estimating aLM minus aFFAT. Bootstrapping (n=1000) resulted in optimism values of 0.0062 (4-site MT model) and 0.0036 (1-site MT model).

Conclusion

The results indicated that ultrasound MT combined with height, age and sex can be used to accurately estimate aLM minus aFFAT in older Japanese adults. Newly developed ultrasound prediction equations to estimate aLM minus aFFAT may be a valuable tool in population-based studies to assess age-related rectified lean tissue mass loss.

     

Assessment of microvessel perfusion of pituitary adenomas: a feasibility study using turbo spin-echo-based intravoxel incoherent motion imaging

European Radiology - To evaluate the feasibility of assessment of microvessel perfusion of pituitary adenomas with intravoxel incoherent motion (IVIM) imaging using single-shot turbo...     

Acquired Thrombotic Thrombocytopenic Purpura Following BNT162b2 mRNA Coronavirus Disease Vaccination in a Japanese Patient

A 57-year-old man without underlying diseases presented with fatigue, loss of appetite, and jaundice 1 week after receiving the first dose of the BNT162b2 mRNA coronavirus disease 2019 (COVID-19) vaccine and showed hemolytic anemia with fragmented erythrocytes and severe thrombocytopenia 2 weeks after receiving the vaccine. An a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) activity level of <10% and ADAMTS13 inhibitor positivity confirmed the diagnosis of acquired thrombotic thrombocytopenic purpura (TTP). Combination therapy with plasma exchange, corticosteroid, and rituximab improved the clinical outcome. We herein report the first Japanese case of TTP possibly associated with vaccination. Physicians should be alert for this rare but life-threatening hematological complication following COVID-19 vaccination.     

Case of traumatic pulmonary pseudocysts coinciding with vertebral fracture

Here, we report a case of traumatic pulmonary pseudocysts (TPPs) coinciding with vertebral fracture. Traumatic pulmonary pseudocysts (TPPs) are rare complications of blunt chest trauma. These clinical images of CT, presenting here, seemed to be valuable because they show the process of pseudocyst formation.     

Successful utilization of a video-assisted thoracic approach to repair morgagni's hernia: Report of a case

We describe herein the successful utilization of a video-assisted thoracic surgical approach to repair Morgagni's hernia. The patient was a 62-year-old woman in whom a routine chest X-ray had revealed an asymptomatic mass, which was presumed to be a pericardial lipoma or Morgagni's hernia. The video-assisted thoracic surgical approach was combined with a right submammary minithoracotomy to successfully repair the hernia without performing a laparotomy. The patient's postoperative course was uneventful and she was discharged 14 days after surgery. Thus, we believe that video-assisted thoracic surgery may be a useful and effective method for repairing Morgagni's hernia.