Optical coherence tomography angiography measurements in neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein antibody disease: A systematic review and meta-analysis.

PURPOSE: Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) are immune-mediated disorders that can often manifest with optic neuritis (ON) among other symptoms. Optical coherence tomography angiography (OCTA) is an emerging diagnostic method that can quantify retinal capillary blood flow and vessel density (VD), which have been shown to be affected in NMOSD and MOGAD. Hence, we aimed to systematically review the studies addressing retinal microvasculature using OCTA in these diseases. DESIGN: Systematic review and meta-analysis. METHODS: PubMed, EMBASE, and Web of Sciences were systematically searched to identify articles addressing OCTA measurements in patients with NMOSD or MOGAD. Following the data extraction, a meta-analysis was performed on the study population and OCTA types amongst at least two homogenous studies. RESULTS: Twenty-two studies on NMOSD, MOGAD, or both were included. Parafoveal superficial retinal capillary plexus (SRCP) VD and radial peripapillary capillary (RPC) VD were diminished in NMOSD ON+ and NMOSD ON- groups compared to healthy controls (HCs). In addition, both the SRCP VD and RPC VD were significantly reduced in NMOSD ON+ compared to NMOSD ON-. However, meta-analysis for deep retinal capillary plexus (DRCP) did not show a significant difference between NMOSD patients and HCs, or among ON+ and ON- patients. Furthermore, there was no significant difference in foveal avascular zone (FAZ) area size between NMOSD patients and HCs. Regarding MOGAD, the meta-analysis showed decreased parafoveal SRCP VD and RPC VD in MOGAD ON+ patients compared to HCs. Comparing NMOSD ON+ and MOGAD ON+, a meta-analysis was conducted for RPC VD, which showed no significant difference between the two groups. CONCLUSIONS: This systematic review and meta-analysis confirmed reduced VD in the macular and peripapillary areas in NMOSD and MOGAD eyes, particularly in the parafoveal SRCP and RPC, which is further impacted by prior ON.

Polygenic hazard score predicts synaptic and axonal degeneration and cognitive decline in Alzheimer's disease continuum.

BACKGROUND: Growth associated protein-43 (GAP-43) and neurofilaments light (NFL) are biomarkers of synaptic and axonal injury, and are associated with cognitive decline in Alzheimer's disease (AD) contiuum. We investigated whether Polygenic Hazard Score (PHS) is associated with specific biomarkers and cognitive measures, and if it can predict the relationship between GAP-43, NFL, and cognitive decline in AD. METHOD: We enrolled 646 subjects: 93 with AD, 350 with mild cognitive impairment (MCI), and 203 cognitively normal controls. Variables included GAP-43, plasma NFL, and PHS. A PHS of 0.21 or higher was considered high risk while a PHS below this threshold was considered low risk. A subsample of 190 patients with MCI with four years of follow-up cognitive assessments were selected for longitudinal analysis . We assessed the association of the PHS with AD biomarkers and cognitive measures, as well as the predictive power of PHS on cognitive decline and the conversion of MCI to AD. RESULTS: PHS showed high diagnostic accuracy in distinguishing AD, MCI, and controls. At each follow-up point, high risk MCI patients showed higher level of cognitive impairment compared to the low risk group. GAP-43 correlated with all follow-up cognitive tests in high risk MCI patients which was not detected in low risk MCI patients. Moreover, high risk MCI patients progressed to dementia more rapidly compared to low risk patients. CONCLUSION: PHS can predict cognitive decline and impacts the relationship between neurodegenerative biomarkers and cognitive impairment in AD contiuum. Categorizing patients based on PHS can improve the prediction of cognitive outcomes and disease progression.

Optical coherence tomography angiography measurements in systemic lupus erythematosus: A systematic review and meta-analysis.

Systemic lupus erythematosus (SLE) is an autoimmune disease affecting various organs. Ocular involvement, particularly retinopathy, is common, emphasizing the significance of early detection. Optical coherence tomography angiography (OCTA), a non-invasive imaging technique, reveals microvascular changes, aiding SLE diagnosis and monitoring. This study evaluates OCTA's effectiveness in detecting SLE-related retinal alterations. A systemic search was undertaken across PubMed, Embase, and Scopus databases to identify studies presenting OCTA measurements in SLE patients compared to healthy controls. The meta-analysis, employing either fixed-effects or random-effects models based on heterogeneity levels, was conducted. Additionally, subgroup and sensitivity analyses, meta-regression, and quality assessments were carried out. Thirteen studies of 565 eyes in the SLE group and 560 eyes in the control group were included. The meta-analyses revealed that SLE patients had a significantly lower retinal vessel density in the superficial and deep capillary plexus layers, choriocapillaris flow area, and foveal avascular zone (FAZ) circularity index compared to healthy controls, but that there were no significant differences in the FAZ area and perimeter. These findings highlight how OCTA can provide a noninvasive assessment of SLE effects on the retinal microvasculature, potentially presenting a reliable biomarker for more precise detection of SLE and disease activity monitoring.

The glucocerebrosidase mutations and uric acid levels in Parkinson's disease: A 3-years investigation of a potential biomarker".

Background: Blood uric acid level indicates an emerging biomarker in Parkinson's disease (PD). This study aimed to evaluate longitudinal uric acid levels among different kinds of glucocerebrosidase (GBA) mutations and to compare it among sporadic PD, genetic cohort Parkinson's disease (GENPD), genetic cohort unaffected (GENUN), and healthy control (HC) patients. Methods: We conducted a study on 654 individuals from the Parkinson's progression markers initiative (PPMI) database. Baseline characteristics, uric acid levels, movement disorder society unified Parkinson's disease rating scale III (MDS-UPDRS III), Hoehn and Yahr Parkinson stage (H&Y stage), and DaT scan specific binding ratio (SBR) data were obtained. Different GBA mutations were collected and categorized into three groups. Longitudinal measurements of uric acid and MDS-UPDRS III score were evaluated during 3-years of follow-up. Result: GENPD cohort exhibited a greater MDS-UPDRS III score, H&Y stage, and lower SBR in the right caudate, left caudate, and right putamen compared to sporadic PD. Baseline uric acid level was similar among all groups and different GBA variants. After adjustment for age, sex, and body mass index, the uric acid level was significantly lower in the GENPD group than in HC during year 2 (P-value: 0.009). No significant longitudinal differences were detected for the MDS-UPDRS III score and three groups of GBA mutations. Conclusion: This is the first study to assess uric acid levels and MDS-UPDRS III scores among different GBA mutation variants within 3 years of follow-up. We found similar clinical characteristics among different subtypes of GBA mutations.

Saccular mycotic aneurysm of descending thoracic aorta secondary to vertebral hydatid disease: A rare case.

BACKGROUND/OBJECTIVE: Hydatid disease of the aorta is very rare. Hydatid disease can result in saccular aneurysm of the thoracic and abdominal aorta. CASE REPORT: We report a rare case of saccular aneurysm of the distal descending thoracic aorta. The diameter of the aneurysm was 60 mm. It was managed by Thoracic Endovascular Aneurysm Repair. After 41 months, computed tomography angiography revealed a multi-loculated cystic lesion with 86 × 83×80 mm dimensions in the prevertebral area at the T10-T11 level with bony destruction and erosion of the anterior margin of the vertebral bodies. A computed tomography-guided fine-needle aspiration of the paravertebral cystic lesion was performed. Microscopic study of the fine-needle aspiration specimen demonstrated Echinococcosis granulosus diagnostic of hydatid disease. CONCLUSION: It is concluded that the case was a mycotic aneurysm of the thoracic aorta secondary to vertebral hydatid disease.

An Ultrasound Evaluation of the Vertebral Artery in Patients With Vertebral Artery Hypoplasia.

Purpose The aim of the current study was to assess and compare Doppler ultrasound findings, especially the resistivity index (RI), among and between patients with vertebral artery hypoplasia (VAH) and normal populations. Material and methods Fifteen consecutive patients with VAH (mean age 54 ± 21 years) and 15 sex-matched controls without VAH (mean age 54 ± 22 years) were selected for the study. The vertebral arteries (VA) were examined with Doppler ultrasound. We also explored each group for sex and age differences (young: age ≤ 50, old: age >50). Results The mean RI (MRI), right RI (RRI), left RI (LRI), non-dominant-side RI, and dominant-side RI were significantly higher in the Case Group than the Control Group. In the Case Group, the affected-side RI (A.RI) was significantly higher than the normal side, while the normal side peak systolic velocity was significantly higher than the affected side. The MRI and A.RI were significantly higher in older patients. We also found a significant negative correlation between the mean diameter (MD) and MRI. MRI and A.RI both correlated positively with age in the Case Group, while left peak systolic velocity decreased significantly with age in the Control Group [p-values < 0.05]. Conclusion The dominant VA had a higher RI in the Case Group than the Control Group. It can therefore be inferred that the dominant VA in patients with VAH does not work completely normally, thus making these patients even more susceptible to vertebrobasilar insufficiency and possible strokes.

Hereditary thrombophilia and thrombosis of tunneled hemodialysis catheters: A single center study.

Introduction: Vascular access thrombosis increases the risk of mortality and morbidity in end-stage renal disease (ESRD) patients on hemodialysis (HD). This study aimed to evaluate hereditary thrombophilia factors in HD patients and its association with tunneled cuffed catheters' thrombosis. Methods: In this cross-sectional study, 60 consecutive patients with ESRD on HD with tunneled cuffed catheters were selected. Inherited thrombophilia factors (Anti-thrombin III, Protein C, Protein S, and Factor V Leiden) were measured and the patients were followed for 3 months to evaluate the incidence of catheter-related thrombosis. The association between these factors and catheter thrombosis was assessed. Results: The mean age of patients was 60.30 ± 8.69 years. Forty-seven patients (78.30%) were female and thirteen patients (21.70%) were male. The most common cause of ESRD was diabetes mellitus (41.67%). The most catheter site was the right internal jugular vein (55%). There were 22 (36.67%) and 8 (13.33%) cases of thrombosis and mortality, respectively. The association between hereditary thrombophilia factors and catheter thrombosis was not statistically significant (P > 0.05). Conclusion: In this small group of our patients, the frequency of hereditary thrombophilia was not significantly different between those with and without thrombosis of tunneled HD catheter.