Search

Objective To deepen the understanding of clinicians for giant subgaleal hematoma complicated with intraorbital hematoma as the first presentation of chronic myeloid leukemia in chronic phase （CML-CP）. Methods The diagnosis and treatment of one case of giant subgaleal hematoma complicated with intraorbital hematoma as the first presentation of CML were reported. Literature review was conducted by using the keywords of subgaleal hematoma and chronic myeloid leukemia in English and Chinese from PubMed, Wanfang Data, Chongqing VIP, SinoMed and CNKI.Results The male patient was aged 14 years old. Skull MRI showed subgaleal hematoma complicated with intraorbital hematoma. He was diagnosed with CML-CP by myelogram analysis. He received ultrasound-guided hematoma puncture with pressure dressing, given with leukapheresis, hydroxyurea, cytarabine and imatinib, a tyrosine kinase inhibitor. During 2-year follow-up, he obtained stable condition and normal quality of life. Two cases of CML presenting with subgaleal hematoma as the initial manifestation were retrieved. One case received cranial CT scan and found no abnormality, and CT scan of the other case prompted subgaleal hematoma; one case underwent hematoma puncture combined with pressure dressing, and the other case received incision and drainage of subgaleal hematoma. Fair clinical prognosis was achieved in two cases. Conclusions CML-CP patients presenting with giant subgaleal hematoma complicated with intraorbital hematoma should promptly receive hematoma puncture in combination with chemotherapy and leukapheresis, etc. In addition, tyrosine kinase inhibitor should be promptly given to enhance clinical prognosis.

Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype-phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7.

Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. These findings expand the genetic pathway underpinning neurologic disease that classically includes FLNA. ARF1 along with ARFGEF2 add further evidence implicating ARF/GEFs in the brain. Using functional ontology, top MDR-containing genes were highly enriched for nucleotide-binding function, suggesting these may be candidates for human disease. Routine consideration of MDR in the interpretation of exome data for rare diseases may help identify strong genetic factors for many severe conditions, infertility/reduction in reproductive capability, and embryonic conditions contributing to preterm loss.

N-3 long-chain polyunsaturated fatty acids (n-3 LC-PUFAs) have positive effect on cognitive function with mild cognitive impairment (MCI) is still controversial. The aim for this meta-analysis was to assess the scientific evidence published in the last 10 years on the effects of n-3 LC-PUFAs intake on MCI patients to explore whether n-3 LC-PUFAs have positive effective. A comprehensive literature search was developed using the Google Scholar, EMBASE, and PubMed database. The pooled effect for all studies was calculated using random-effects model. And the terms of weighted mean difference (WMD) with 95% confidence interval (CI) was pooled and indicated the effects. Heterogeneity was assessed by I.sup.2 statistics. A total of seven randomized clinical trials involving 213 cases of intervention and 221 cases of placebo were included in this analysis. Compared with placebo, n-3 LC-PUFAs supplements effectively improved cognition in elders with MCI (WMD = 0.85, 95% CI: 0.04-1.67, Z = 2.05, P = 0.04). Slight heterogeneity was detected across studies. Our results provided further evidence that n-3 LC-PUFAs may have beneficial effect in elderly with MCI., Author(s): Xiaoling Zhang [sup.1] , Hongjuan Han [sup.2] , Xiaoyan Ge [sup.1] , Long Liu [sup.1] , Tong Wang [sup.1] [sup.3] , Hongmei Yu [sup.1] [sup.3] Author Affiliations: (1) Department [...]

Many new disease genes can be identified through high-throughput sequencing. Yet, variant interpretation for the large amounts of genomic data remains a challenge given variation of uncertain significance and genes that lack disease annotation. As clinically significant disease genes may be subject to negative selection, we developed a prediction method that measures paucity of non-synonymous variation in the human population to infer gene-based pathogenicity. Integrating human exome data of over 6000 individuals from the NHLBI Exome Sequencing Project, we tested the utility of the prediction method based on the ratio of non-synonymous to synonymous substitution rates (dN/dS) on X-chromosome genes. A low dN/dS ratio characterized genes associated with childhood disease and outcome. Furthermore, we identify new candidates for diseases with early mortality and demonstrate intragenic localized patterns of variants that suggest pathogenic hotspots. Our results suggest that intrahuman substitution analysis is a valuable tool to help prioritize novel disease genes in sequence interpretation.

Whether depression affects activities of daily living (ADLs) in patients with Parkinson's disease (PD) via excessive daytime sleepiness (EDS) remains unclear; moreover, few longitudinal studies have been conducted. We recruited 421 patients from the Parkinson's Progression Markers Initiative. We constructed a latent growth mediation model to explore the longitudinal mediating effect of depression on the relationship between EDS and ADLs. EDS (p <.001) and depression scores (p <.001) both increased, and ADL scores (p <.001) decreased. Moreover, EDS was positively correlated with depression, whereas an increase in EDS significantly reduced ADLs. The initial value (95% confidence interval [CI]: 0.026, 0.154) and the rate of change (95% CI: 0.138, 0.514) of self-reported depression measured using the Geriatric Depression Scale(GDS) partially mediated the association between EDS and ADL score. The indirect effect of the longitudinal changes of depression on the relationship between EDS and ADLs highlights the importance of depression changes in PD patients with EDS. Depression should be considered a mediator by clinicians; preventing the worsening of depression is essential for improving ADLs in patients with PD, especially those with EDS. [ABSTRACT FROM AUTHOR]

The freshwater discharge from melting ice sheets in the deglaciation or glaciation is prone to anomalies in ocean-atmosphere transport between different latitudes, which can lead to a series of abrupt millennial-scale climate events, either obvious or not, such as the Younger Dryas (YD) events and YD-like events. Marine Isotope Stage 11c (MIS 11c) serves as one of the best references for the current Holocene, and the studies of possible YD-like events and their triggering mechanisms during Holocene are conducive to the understanding of the occurrence pattern of extreme climate events. In this paper, the results of the study on the J33 δ18O sequence records of stalagmites in Jinfo Cave, Chongqing, are shown: (1) Stalagmites in the Asian monsoon climate zone reveal a millennial-scale weak monsoon event that occurred around 410 ka BP prior to the Glacial Maximum of MIS 11 interglacial period. (2) Both the 410 ka weak monsoon event and the YD event occurred during the gradual strengthening of the monsoon and ascending branch of summer insolation in the Northern Hemisphere prior to the Glacial Maximum of interglacial period. This was also a time when Atlantic Meridional Overturning Circulation (AMOC) disturbance occurred. The duration, internal structure, and pattern of the events were similar, with differences in the change magnitude and ice volume conditions. (3) The weak monsoon event that occurred in 410 ka BP was primarily influenced by the combined effects of insolation and AMOC. This event was characterized by a sustained warming process that accelerated the melting of the Greenland ice sheet, leading to the destabilization of this ice sheet. The continuous flowing of freshwater into the North Atlantic resulted in a short-lived AMOC oscillation. The weakening of the AMOC resulted in a cold anomaly over the North Atlantic. As a result of atmospheric telecorrelation, the weaker AMOC led to a weaker Asian Summer Monsoon (ASM). [ABSTRACT FROM AUTHOR]

2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside is the main compound of Polygonum multiflorum. There are two geometrical isomers of 2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside. Several studies have shown that cis‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside may be the risk compound of hepatotoxicity in Polygonum multiflorum Thunb. and there are few comprehensive comparisons on the different impacts of cis‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside and trans‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside about metabolic characteristics. This paper aimed to provide a comprehensive assessment of the metabolomics and lipidomics studies of the differences in metabolic characteristics of cis‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside and trans‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside. The results showed that trans‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside and cis‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside significantly affected 47 metabolites. The main interfering pathways included alpha‐linolenic acid, linoleic acid (LA) metabolism, arachidonic acid (AA) metabolism, and fatty acid metabolism. According to the transcriptomics study, the altered genes were mainly enriched in LA metabolism, AA metabolism, and fatty acid metabolism. Two genes (Runx3 and Scd1) were mainly involved in the cell cycle and fatty acid metabolism in the cis‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside group, and one enzyme (Phospholipase B1) was related to alpha‐linolenic acid, LA metabolism and AA metabolism in the trans‐2,3,5,4′‐tetrahydroxy stilbene‐2‐O‐β‐D‐glucoside group. These would provide useful information for further investigation on therapeutic and hepatotoxic mechanisms of Polygonum multiflorum Thunb. [ABSTRACT FROM AUTHOR]

Research shows that chloride ion in the process of chemical oxygen demand (COD) analysis has a huge impact on the results of the analysis, How to improve the accuracy of chemical oxygen demand analysis results in the presence of chlorine ion interference is a difficult problem in current environmental monitoring work, This article introduces the chlorine ion in different analysis method to analysis the influence degree of the chemical oxygen demand (COD).

Antimony (Sb) is a toxic and potentially carcinogenic metalloid element. The toxicity of Sb in the environment strongly relies on its speciation. It is necessary to investigate the speciation and content of antimony in soil in order to understand better the real risk associated with Sb in the environment. This study developed water bath heating and soaking-AFS methods to determine the available and carbonate antimony in soil. Through analysis and mutual verification experiments in three different laboratories, the repeatability and reproducibility in the precision experiment were less than 3.44, the average recovery rate was more than 98.1%. These methods were accurate, reproducible and effective for detecting the content of available and carbonate antimony in soil.