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Since both, TMEM244 expression and its promoter demethylation, are not detected in normal lymphoid cells, they can be potentially used as markers in Sézary syndrome and some other T-cell lymphomas.

The application of multi-planar reconstruction of three dimensional (3D) curved surface in microsurgery of 3D printing mold assisted eyebrow arch keyhole approach was studied.

Eighty patients with intracranial aneurysms who underwent treatment at our hospital were enrolled. The patients were divided into two groups the traditional eyebrow keyhole approach microsurgery group (38 cases in the conventional treatment group) and the three-dimensional curved surface multi-plane reconstruction image combined with 3D printing technology assisted eyebrow keyhole approach microsurgery group (42 cases in the 3D printing assisted treatment group). The Hunt-Hess classification was used to make a preliminary estimation of the patient's condition. The 3D curved multi-planar reconstruction method was used to assist the surgical plan; CT scan was used to establish a 3D printing mold, and the patient's condition and surgical plan were accurately analyzed before surgery. The operative time and the size of the incision area ective, and the postoperative recovery was better and the incidence of complications was lower.

Compared with the conventional eyebrow arch-hole approach microsurgery, the 3D surface multi-planar reconstruction image combined 3D printing assisted technology was safer and more effective, and the postoperative recovery was better and the incidence of complications was lower.

To date, several studies have suggested that genes involved in monogenic forms of Parkinson's disease (PD) contribute to unrelated sporadic cases, but there is limited evidence in the Chinese population.

We performed a systematic analysis of 12 autosomal-dominant PD (AD-PD) genes (SNCA, LRRK2, GIGYF2, VPS35, EIF4G1, DNAJC13, CHCHD2, HTRA2, NR4A2, RIC3, TMEM230, and UCHL1) using panel sequencing and database filtration in a case-control study of a cohort of 391 Chinese sporadic PD patients and unrelated controls. We evaluated the association between candidate variants and sporadic PD using gene-based analysis.

Overall, 18 rare variants were discovered in 18.8% (36/191) of the index patients. In addition to previously reported pathogenic mutations (LRRK2 p.Arg1441His and p.Ala419Val), another four unknown variants were found in LRRK2, which also contribute to PD risk (p=0.002; odds ratio (OR)=7.83, 95% confidence intervals (CI)=1.76-34.93). The cumulative frequency of undetermined rare variants was significantly higher in PD patients (14.1%) than in controls (3.5%) (p=0.0002; OR=4.54, 95% CI=1.93-10.69).

Our results confirm the strong impact of LRRK2 on the risk of sporadic PD, and also provide considerable evidence of the existence of additional undetermined rare variants in AD-PD genes that contribute to the genetic etiology of sporadic PD in a Chinese cohort.

Our results confirm the strong impact of LRRK2 on the risk of sporadic PD, and also provide considerable evidence of the existence of additional undetermined rare variants in AD-PD genes that contribute to the genetic etiology of sporadic PD in a Chinese cohort.

Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the ACMG 59 gene list and the frequency of these variants in the Taiwanese population.

This study screened 161 Taiwanese exomes for variants from the ACMG 59 gene list. The identified variants were reviewed based on information from different databases and the available literature and classified according to the ACMG standard guidelines.

We identified seven pathogenic/likely pathogenic variants in eight individuals, with five participants with autosomal recessive variants in one allele and three participants with autosomal dominant variants. Approximately 1.86% (3/161) of the Taiwanese individuals had a reportable pathogenic/likely pathogenic variant as determined by whole-exome sequencing (WES), which was comparable to the proportions published previously in other countries. We further investigated the high carrier rate of rare variants in the ATP7B gene, which might indicate a founder effect in our population.

This study was the first to provide Taiwanese population data of incidental findings and emphasized a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene.

This study was the first to provide Taiwanese population data of incidental findings and emphasized a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene.

F-FP-CIT and

I-FP-CIT are widely used radiotracers in molecular imaging for Parkinson's disease (PD) diagnosis. Compared with

I-FP-CIT,

F-FP-CIT has superior tracer kinetics. We aimed to conduct a meta-analysis to assess the efficacy of using

F-FP-CIT positron emission tomography (PET) and

I-FP-CIT single-photon emission computed tomography (SPECT) of dopamine transporters in patients with PD in order to provide evidence for clinical decision-making.

We searched the PubMed, Embase, Wanfang Data, and China National Knowledge Infrastructure databases to identify the relevant studies from the time of inception of the databases to 30 April 2020. We identified six PET studies, including 779 patients with PD and 124 healthy controls, which met the inclusion criteria. Menin-MLL Inhibitor order Twenty-seven SPECT studies with 1244 PD patients and 859 controls were also included in this meta-analysis.

Overall effect-size analysis indicated that patients with PD showed significantly reduced

F-FP-CIT uptake in three brain regions [caudate nucleus standardized mean difference (SMD)=-1.71, Z=-3.31, P=0.0009; anterior putamen SMD=-3.71, Z=-6.26, P<0.0001; and posterior putamen SMD=-5.49, Z=-5.97, P<0.0001]. Significant decreases of

I-FP-CIT uptake were also observed in the caudate (SMD=-2.31, Z=-11.49, P<0.0001) and putamen (SMD=-3.25, Z=-14.79, P<0.0001).

In conclusion, our findings indicate that both

F-FP-CIT PET and

I-FP-CIT SPECT imaging of dopamine transporters can provide viable biomarkers for early PD diagnosis.

In conclusion, our findings indicate that both 18 F-FP-CIT PET and 123 I-FP-CIT SPECT imaging of dopamine transporters can provide viable biomarkers for early PD diagnosis.