Seek out Ing amyloidosis risks using Mendelian randomization

y this disease so that timely treatment could avoid axonal loss.
The epidermal growth factor receptor (EGFR) mutation status related to the treatment approach for advanced non-small cell lung cancer (NSCLC) patients. This study aimed to evaluate the diagnostic accuracy of peripheral blood circulating tumor DNA (ctDNA) in EGFR mutated advanced NSCLC patients.
The related database was systematically searched with keywords until January 19, 2020. Studies contained the histopathological and cytological advanced NSCLC samples were included, and the diagnostic data were recorded for calculating sensitivity and specificity. I statistics were used for detecting heterogeneity across studies, and the meta-regression was performed to seek the source of heterogeneity.
A total of 32 studies with 4527 advanced NSCLC patients were included in our meta-analysis. Among them, 87% of the patients were diagnosed as stage IV. The pooled sensitivity of peripheral blood ctDNA was 0.70 (95% CI 0.63-0.75, I = 81.76) and the pooled specificity was 0.98 (95% CI 0.96-0.99, I = 88.33). The meta-regression showed that the prospective study design and the ARMS detection method were the main source of heterogeneity for sensitivity (P < .05), and the publication country (Asia or non-Asia) was the main source of heterogeneity for specificity (P < .01).
ctDNA biopsy has high specificity and diagnostic accuracy in detection of EGFR mutation in advanced NSCLC patients. When the ctDNA gene test result is negative, we should fully consider the risk of missed diagnosis, and further tissue biopsy is still needed to undertake.
ctDNA biopsy has high specificity and diagnostic accuracy in detection of EGFR mutation in advanced NSCLC patients. When the ctDNA gene test result is negative, we should fully consider the risk of missed diagnosis, and further tissue biopsy is still needed to undertake.To evaluate the association between gene polymorphisms of MTHFR (C677T, A1298C) and MTRR (A66G), and the recurrent spontaneous abortion (RSA) risk in Asia.Related case-control studies were collected, selected, and screened. A meta-analysis was conducted by Stata 12.0 software to assess the association between polymorphisms of target genes and RSA.Altogether 30 studies examining the relationship between genetic polymorphism of folate metabolism and RSA risk were included, among which 20 studies were related to MTHFR C677T, 11 to MTHFR A1298C and 6 to MTRR A66G. AZD5004 manufacturer The studies suggested that MTHFR C677T polymorphism was closely connected with RSA risk under all models (P  . 05). For MTHFR A1298C, it was closely related to RSA risk in all gene models except for (AC vs AA) (P  less then  .05). However, when it comes to MTRR A66G, there was no significant correlation between gene A66G polymorphism and RSA risk except for the additive gene model (G vs A) (P  less then  .05).The present evidence shows that the correlation between gene polymorphisms and RSA risk can be found in MTHFR C677T, A1298C (except for heterozygote model) and MTRR A66G (only in additive genotypes), and the detection of the correlated gene polymorphisms mentioned above is of certain guiding significance for preventing RSA and screening high-risk groups.The aim of this study was to investigate the histopathological manifestations of congenital corneal staphyloma accompanied by anterior segment dysgenesis and evaluate the prognosis after penetrating keratoplasty with an ultralarge button graft.We retrospectively studied 8 pediatric patients with large congenital corneal staphylomas in the Department of Ophthalmology of Peking University Third Hospital, China, between September 2014 and December 2018. All patients underwent penetrating keratoplasty with ultralarge button grafts, as well as additional operations according to the abnormality of each eye. Pathological investigations of all samples obtained during penetrating keratoplasty were performed with hematoxylin and eosin staining.The main clinical characteristic of congenital corneal staphyloma was an extremely opaque and ectatic cornea. Histopathological examination showed abnormal corneal epithelia and stroma and an absence of Bowman membrane, Descemet membrane, and the endothelium. Different severities of anterior segment dysgenesis, presenting as various histopathological manifestations, were observed in all cases. Several postoperative complications occurred after penetrating keratoplasty in some of the patients; however, the complications were discovered and treated accordingly in a timely manner. Six patients achieved good visual outcomes and a satisfactory cosmetic appearance after penetrating keratoplasty. One patient eventually lost the transparency of the button because of corneal neovascularization, and 1 patient lost visual function because of retinal detachment.Congenital corneal staphyloma combined with anterior segment dysgenesis can exhibit various manifestations on histopathological examination. Penetrating keratoplasty with an ultralarge button graft seems to be a suitable treatment for congenital corneal staphyloma to obtain good functional and aesthetic prognoses.
Neurofilament light chain (NfL), an index of neuroaxonal injury, is a promising diagnostic and prognostic fluid biomarker with high translational value in many neurodegenerative disorders. Blood NfL measurement has been an exciting and active field of research in idiopathic Parkinson disease (PD) and atypical parkinsonisms. However, blood NfL levels in these parkinsonisms from existing literature were inconsistent. No comprehensive meta-analysis has ever been conducted.
Three major biomedical electronic databases PubMed, Embase, and Web of Science were comprehensively searched from inception to July 10, 2020. This protocol will be prepared based on the guidelines recommended by the statement of Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P). Original observational studies that measured blood (serum/plasma) NfL concentrations in patients with parkinsonisms (multiple system atrophy [MSA], progressive supranuclear palsy [PSP], corticobasal syndrome [CBS], and dementia with Lewy bodies [DLB]), and healthy controls (HCs) will be included.