Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.

Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was diagnosed after clinical evaluation including family history, physical examination, cerebral MRI, ultrasonography imaging, VEGG, ocular fundus examination, and comprehensive blood and urine testing. Whole exome sequencing (WES) was performed to detect CPLANE1 variants, and Sanger sequencing was used to confirm the variants. This JBTS patient presented with oculomotor apraxia, dysregulation of breathing pattern, and ataxia. MRI revealed poor continuity of cerebelli, batwing appearance, and molar tooth sign. This patient was noted with abnormal hematology, dysregulation of hepatic function, thyroid function, immunity, and renal function, and encephalopathy. CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) variants were noticed in the patient as a pathogenic variant and caused autosomal recessive inheritance. The JBTS patient with mutations in CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) developed JBTS phenotypes. The novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant will assist clinicians and geneticists in reaching a precise diagnosis for JBTS.

PyMieLab_V1.0: A software for calculating the light scattering and absorption of spherical particles.

Light scattering and absorption by small particles are widely used in fields such as biomedicine, information technology, and energy technology. However, their theoretical study requires not only a high level of knowledge in electromagnetism but also a high level of computer programming skills. To solve this problem, a software called PyMieLab (https://gitlab.com/Climb12/pymielab.git) for calculating the light scattering and absorption of spherical particles has been developed based on Mie theory. This software is interactive, versatile, visual, flexible, and scalable. It has a friendly graphical user interface and can be used as a numerical simulation platform for scientific research, as well as provides a rich database of particle refractive indices. Moreover, it offers a reliable research platform for discovering new optical properties of specific materials and exploring materials with better optical properties in related fields. This paper describes in detail the theoretical basis, the graphical user interface, the calculation functions, the operational and procedural processes, the features, and the numerical verification of the software. It illustrates the application value of the software with two simulation examples.

A novel semiautomatic Chinese keywords instrument screening delirium based on electronic medical records.

BACKGROUND: Delirium is frequently unrecognized due to the absence of regular screening. In addition to validated bedside tools, the computer-assisted instrument based on clinical notes from electronic medical records may be useful. AIMS: To assess the psychometric properties of a Chinese-chart-based keyword instrument for semiautomatically screening delirium using Natural language processing (NLP) based on clinical notes from electronic medical records. METHODS: The patients were admitted to West China Hospital from January 2015 to December 2017. Grouping patients based on the medical notes, those with accessible physician documents but no nurse documents were classified as the physician & no-nurse (PNN) group, while those with accessible physician and nurse documents were classified as the physician & nurse (PN) group. The psychometric properties, test-retest reliability, internal consistency reliability (Cronbach's α), and criterion validity were calculated. Using receiver operating characteristic (ROC) analysis, the criterion validity of delirium was evaluated in comparison to the results of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. RESULTS: A total of 779 patients were enrolled in the study. Their ages ranged from 65 to 103 years (82.5 ± 6.5), with men accounting for 71.9% of the total. A total of 312 patients had access to only physician documents in the physician & no-nurse (PNN) group, whereas 467 patients had access to both physician and nurse documents in the physician & nurse (PN) group. All 779 patients had a Cronbach's alpha of 0.728 in terms of reliability, with 100% test-retest reliability. The area under the ROC curve (AUC) values of the delirium screening instrument for criterion validity were 0.76 (all patients, n = 779), 0.72 (PNN, n = 312), and 0.79 (PN, n = 467), respectively. CONCLUSION: A delirium screening instrument composed of Chinese keywords that can be easily and quickly obtained from electronic medical records was developed, which improved delirium detection in older people. TRIAL REGISTRATION: Not applicable.

Retrieval of Size Distribution and Concentration of Au-Ag Alloy Nanospheroids by Spectral Extinction Method.

In order to monitor the synthesis processes or characterize nanoparticles for application, a new method that allows in situ determination of the two-dimensional size distribution and concentration of Au-Ag alloy nanospheroids, based on their extinction spectrum, is developed. Non-negative Tikhonov regularization and T-matrix method were used to solve the inverse problem. The effects of the two-dimensional size steps, wavelength range, and measurement errors of extinction spectrum on the retrieval results were analyzed to verify the feasibility and accuracy of the retrieval algorithm. Through comparative analysis, the size steps and wavelength range that make the retrieval error smaller are found. After adding 0.1% random noise to the extinction spectrum, a small variation in the retrieval error of the mean size is observed. The results showed that the error of the mean size is smaller than 2% and the error of the concentration is smaller than 3%. This method is simple, fast, cheap, nondestructive, and can be done in situ during the growth process of nanoparticles.

Risk Factors for Delirium in the Palliative Care Population: A Systematic Review and Meta-Analysis.

Objective: Delirium is common and highly distressing for the palliative care population. Until now, no study has systematically reviewed the risk factors of delirium in the palliative care population. Therefore, we performed a systematic review and meta-analysis to evaluate delirium risk factors among individuals receiving palliative care. Methods: We systematically searched PubMed, Medline, Embase, and Cochrane database to identify relevant observational studies from database inception to June 2021. The methodological quality of the eligible studies was assessed by the Newcastle Ottawa Scale. We estimated the pooled adjusted odds ratio (aOR) for individual risk factors using the inverse variance method. Results: Nine studies were included in the review (five prospective cohort studies, three retrospective case-control studies and one retrospective cross-section study). In pooled analyses, older age (aOR: 1.02, 95% CI: 1.01-1.04, I 2 = 37%), male sex (aOR:1.80, 95% CI: 1.37-2.36, I 2 = 7%), hypoxia (aOR: 0.87, 95% CI: 0.77-0.99, I 2 = 0%), dehydration (aOR: 3.22, 95%CI: 1.75-5.94, I 2 = 18%), cachexia (aOR:3.40, 95% CI: 1.69-6.85, I 2 = 0%), opioid use (aOR: 2.49, 95%CI: 1.39-4.44, I 2 = 0%), anticholinergic burden (aOR: 1.18, 95% CI: 1.07-1.30, I 2 = 9%) and Eastern Cooperative Oncology Group Performance Status (aOR: 2.54, 95% CI: 1.56-4.14, I 2 = 21%) were statistically significantly associated with delirium. Conclusion: The risk factors identified in our review can help to highlight the palliative care population at high risk of delirium. Appropriate strategies should be implemented to prevent delirium and improve the quality of palliative care services.

Novel porous chitosan/N-halamine structure with efficient antibacterial and hemostatic properties.

In this work, a novel chitosan based structure (CS/EVC) with low density, high porosity, three-dimensional porous structure and great adsorption capability has been prepared by using 1,2-epoxy-4-vinyl cyclohexane (EVC) as a cross-linker. After immersing CS/EVC in N-halamine 1-chloro-2,2,5,5-tetramethyl-4-imidazolinone (MC) solution, antibacterial CS/EVC/MC compounds were obtained. Compared with chitosan and CS/EVC controls, CS/EVC/MC showed excellent antimicrobial activities, which could inactivate both more than 6 logs (×1/1,000,000) of Staphylococcus aureus (ATCC 6538) and Escherichia coli (ATCC 8099) within 30 and 10 min, respectively. Moreover, the relatively low blood clotting index of CS/EVC/MC and the activation of platelets adhering to the surfaces indicated that the CS/EVC/MC sample is potential to promote the agglutination abilities of blood cells and simultaneously control wound bleeding. In addition, in vitro cytotoxicity test showed that the CS/EVC/MC had no cytotoxicity. The material might thus have a great potential for biomedical applications.

[Effects of PI3K signaling pathway on pathogenesis of ulcerative colitis].

OBJECTIVE: To elucidate the role of PI3K/Akt in the pathogenesis of UC patients and DSS-induced colitis model in mice. METHODS: (1) The mucosa biopsy specimens were collected from 40 patients with ulcerative colitis, and normal mucosa from 20 colon cancer cases served as control. Effects of wortmannin on expression of TNF-alpha in intestinal mucosal specimens from patients with ulcerative colitis were determined on the condition of tissue culture. (2) Thirty six Balb/c mice were divided randomly into four groups: normal control group, DSS-induced colitis group, DMSO control group and wortmannin treatment group. Colitis was induced by feeding 5% DSS in mice. Disease activity index (DAI) was evaluated and the level of TNF-alpha was measured by ELISA. RESULTS: (1) The TNF-alpha level of intestinal mucosa in wortmannin treatment group was significantly lower than that in UC group (P < 0.05). (2) The DAI scores and TNF-alpha levels were lower significantly in wortmannin treatment group compared with DSS group and DMSO group (P < 0.05), and were higher than those of normal control group (P < 0.05). There were no significance between DSS group and DMSO group (P > 0.05). CONCLUSIONS: PI3K/Akt signal transduction pathway participates in the expression regulation of pro-inflammatory cytokine TNF-alpha. Wortmannin can inhibit PI3K/Akt signal transduction pathway.