Behavioural Variant Frontotemporal Dementia due to CCNF Gene Mutation: A Case Report.

BACKGROUND: Frontal, temporal lobe dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases. Studies have found that CCNF mutations have been found in patients with familial and sporadic ALS and FTD. Behavioural variant frontotemporal dementia (bvFTD) is a clinical syndrome characterized by progressive deterioration of personality, social behaviour, and cognitive function, which is most closely related to genetic factors. As the early symptoms of bvFTD are highly heterogeneous, the condition is often misdiagnosed as Alzheimer's disease or psychiatric disorders. In this study, a bvFTD patient had a CCNF gene mutation, which led to ubiquitinated protein accumulation and ultimately caused neurodegenerative disease. Genetic detection should be improved urgently for bvFTD patients and family members to provide a clinical reference for early diagnosis of frontotemporal dementia. CASE PRESENTATION: In this case, the patient was 65 years old with an insidious onset, early-onset memory loss, a significant decline in the episodic memory, an early AD diagnosis, and oral treatment with donepezil hydrochloride for 3 years with poor efficacy, followed by a change to oral memantine hydrochloride tablets, which controlled the condition for several months. His medication was switched to sodium oligomannate capsules, and his condition was gradually controlled, but no significant improvement was observed. After spontaneous drug withdrawal, the patient's condition progressed rapidly; therefore, he visited our hospital and underwent neuropsychological tests for moderate to severe cognitive impairment. AD cerebrospinal fluid markers showed no significant abnormalities, and cranial MRI revealed frontotemporal lobe atrophy and decreased hippocampal volume. Genetic testing for the presence of the CCNF gene revealed a c.1532C > A (p. T511N) heterozygous variant, which might be a diagnostic criterion for bvFTD. Therefore, the patient's symptoms recurred after transient improvement with the combination of donepezil, oral memantine hydrochloride tablets, and sodium oligomannate, but his overall condition was improved compared to that before, and this treatment regimen was continued to observe changes during the follow-up. CONCLUSION: The early clinical manifestations of bvFTD are complex and variable, and the condition is easily misdiagnosed, thus delaying treatment. Therefore, for patients with a high clinical suspicion of FTD, in addition to a detailed understanding of their medical history and family history and improvement of relevant examinations, genetic testing should be performed as early as possible to help confirm the diagnosis. For diseases closely related to genes, genetic testing of other family members should be optimised as much as possible to allow early diagnosis and intervention and guide fertility in the next generation.

Treated with interferon and the gene polymorphism of CGRP and its receptor.

OBJECTIVE: This case-control study aims to investigate the relationship of polymorphisms of four gene loci (CGRP rs155209 and rs3781719, RAMP1 rs3754701 and rs7590387) with the prognosis of interferon therapy for chronic hepatitis B (CHB). MATERIALS AND METHODS: A total of 317 CHB patients receiving interferon alone for the first time were recruited in northern China, and peripheral blood samples were obtained. The single-nucleotide polymorphisms (SNPs) in rs155209, rs3781719, rs3754701, and rs7590387 were genotyped using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS). Univariate and multivariate logistic regression methods were employed to assess the correlation between CHB prognosis treated with interferon and polymorphisms of these gene loci. RESULTS: The study clearly demonstrated the relevance of polymorphisms of rs155209, rs3781719, rs3754701, and rs7590387 with DNA response and ALT response after interferon treatment. CHB patients with CGRP rs155209C had a lower risk of developing DNA response (CT vs. TT: OR = 0.159, 95% CI = 0.086-0.294, Padj < 0.001; CC vs. TT: OR = 0.131, 95% CI = 0.059-0.288, Padj < 0.001), as well as a lower risk of developing ALT response (CT vs. TT: OR = 0.530, 95% CI = 0.323-0.869, Padj < 0.05). Moreover, CHB patients with RAMP1 rs3754701T allele were more prone to develop DNA response (AT vs. AA: OR = 2.061, 95% CI = 1.237-3.435, Padj < 0.05; TT vs. AA: OR = 5.676, 95% CI =1.247-25.837, Padj < 0.05), and they also more likely to develop ALT response (AT vs. AA: OR = 1.766, 95% CI = 1.098-2.840, Padj < 0.05). We did not find a significant association between CGRP rs3781719 or RAMP1 rs7590387 and DNA response or ALT response. CONCLUSION: This study revealed that CGRP rs155209 and RAMP1 rs3754701 polymorphisms, but not CGRP rs3781719 and RAMP1 rs7590387, were correlated with interferon therapy prognosis for CHB in Han Chinese population, and RAMP1 rs3754701T was a protective factor for ALT response and DNA response, but CGRP rs155209C carriers were less prone to DNA and ALT responses.

Immunogenicity and safety levels of inactivated quadrivalent influenza vaccine in healthy adults via meta-analysis.

Objective: The aim of the current study was to evaluate immunogenicity and safety levels of human inactivated quadrivalent influenza vaccine (QIV) which includes two A strains (A/H1N1, A/H3N2) and two B lineages (B/Victoria, B/Yamagata) in healthy adults via meta-analysis. Methods: Searches were conducted in PubMed, Cochrane Library, ClinicalTrials.gov, and EMBASE databases published in 2011-2020 according to inclusion and exclusion criteria. The purpose was to collect and perform meta-analysis of related randomized clinical trial (RCT) data concerning safety and immunogenicity levels of human QIV compared with inactivated trivalent influenza vaccine (TIV). Results: A total of 9 literatures were included. There was no significant difference in the seroconversion(SCR) and seroprotection(SPR) between QIV and TIV for influenza A strains (A/H1N1, A/H3N2) and the B lineage included in the TIV. QIV showed superior efficacy for the B lineage not included in the TIV: SCR RR of 2.20 (95%CI: 1.44-3.37, p = .0003) and SPR RR of 1.34 (95%CI: 1.10-1.63, p = .004) for B/Victoria, and SCR RR of 1.88 (95%CI: 1.53-2.31, p < .00001) and SPR RR of 1.11 (95%CI: 1.03-1.19, p = .006) for B/Yamagata, respectively. There were no significant differences between QIV and TIV for local and systemic adverse events(AE) post-vaccination. Conclusion: In adults 18-64 years old, QIV not only produced similar immunogenicity and safety levels to TIV, but also had better immunogenicity against influenza B vaccine strains not included in TIV.

[Disease burden of patients with advanced schistosomiasis in Jiangsu Province].

OBJECTIVE: To understand the disease burden of patients with advanced schistosomiasis in Jiangsu Province. METHODS: Totally 450 patients with advanced schistosomiasis from southern, northern and central Jiangsu were chosen by the stratified sampling method, and surveyed by the self-designed economic burden questionnaire in 2015. The economic burden of the patients was analyzed by the descriptive analysis method, and its determinants were explored by the multiple linear regression analysis. RESULTS: A total of 450 subjects were surveyed and 434 valid questionnaires were recovered with the recovery rate of 96.44%. The per capita economic burden of advanced schistosomiasis patients was 10 217 Yuan in Jiangsu Province in 2015, including 7 221 Yuan in direct economic burden and 2 996 Yuan in indirect economic burden. The average lost labor force time was 140 days for the patients, and was 23 days for the family. The multiple linear regression analysis showed that the marital status, hospitalization health service utilization, and self-reported health score impacted on the disease economic burden. CONCLUSIONS: The disease burden of patients with advanced schistosomiasis in Jiangsu Province is heavy.

Safety and effectiveness assessment of 2011-2012 seasonal influenza vaccine produced in China: a randomized trial.

OBJECTIVE: This study evaluated the effectiveness and safety of the egg-based, trivalent, inactivated split influenza vaccine produced by the Institute of Medical Biology, Chinese Academy of Medical Sciences, Peking Union Medical College, China. METHODS: From March 2012 through May 2012, we enrolled a total of 1390 healthy volunteers between the ages of 3 and 80 years in a randomized clinical trial at the Hebei Disease Control Center Vaccine Clinical Evaluation Center. For all subjects, body part adverse reactions and whole-body adverse reactions were observed 30 min, 6 h, and 1-7 days' post-inoculation. If no severe adverse effects were observed 7 days' post-vaccination, the local and systemic reactions of preliminary test participants were recorded until day 28. There was no placebo group in this study. Blood samples were taken for serological testing before vaccination and 28 days' post-vaccination. RESULTS: Twenty-eight days after vaccination, the seroconversion rates of experimental and control groups were H1N1 75.3% and 75.7%, H3N2 75.8% and 71.8%, B 70.7% vs. 69.4%, (P > 0.05). The antibody Geometric Mean Titer（GMT）of experimental and control groups were H1N1 (179.7, 182.4), H3N2 (584.0, 445.7), B (201.4,191.6). The protection rate of experimental and control groups was not statistically significant (H1N1: 86% vs. 87%, H3N2: 99% vs. 98%, B: 98% vs. 98%). Also, 95% confidence intervals of the protection rate difference between the experimental and the control group were H1N1: -0.1% (-4.1,3.8) %, H3N2: 0.3% (-1.0,1.7) % and B: 0.2% (-1.5,1.9) %; confidence intervals exceeded the limit of -5%. The rates of adverse reactions between experimental and control groups were 6.3% and 7.7% in local response reactions, and 19.5% and 18.0% in systemic reactions. Three hundred and twenty-seven adverse events (AEs) in 1200 (27.76%) subjects were reported within 28 d after vaccination. No serious adverse events occurred during the study. CONCLUSIONS: The experimental vaccine three-antibody protection rate was non-inferior to the control vaccine. Our results demonstrated that the experimental vaccine achieved the primary immunogenic end point of the intended clinical protocol, as well as a secondary immunogenic end-point, with an acceptable level of safety. IRB approval for this study was issued under #2012Y0005 and registered as Clinical Trial No. NCT01551810.

[Epidemic characteristics of imported falciparum malaria in Huai'an City].

OBJECTIVE: To understand the situation and epidemic characteristics of imported falciparum malaria in Huai'an City from 2010 to 2016, so as to provide the evidence for formulating the prevention and control strategies of imported falciparum malaria in the city. METHODS: The epidemic data of imported falciparum malaria in Huai'an City from 2010 to 2016 were analyzed by using the descriptive epidemiological method. RESULTS: A total of 308 malaria cases were reported in Huai'an City from 2010 to 2016 with the average annual incidence of 0.88/105. A total of 240 imported falciparum malaria cases were reported, of which 18 cases (7.50%) developed into severe illness, and 2 severe patients died. The cases were reported in every county (district), and the incidence rates of Qingpu District and Huai'an District were higher than the city average level. The cases occurred every month, so there was no significant seasonal variation in the reporting time of the cases. Most of the patients were young men and aged 30-49 years. The occupational distribution revealed that the patients were mainly farmers, workers and migrant workers. The main source of infection was from African countries. The median interval from symptom appearing to definite diagnosis was 1 day, and the longest interval was 236 days. Twenty-nine cases were diagnosed within 24 hours, accounting for 12.08%. CONCLUSIONS: The epidemic situation of imported falciparum malaria in Huai'an City is grim. In order to consolidate the achievements of malaria eradication, it is necessary to further improve the multi-sectoral cooperation mechanism, strengthen the management of floating population and take effective measures to reduce the risk of imported falciparum malaria.

[Malaria awareness among residents and students during malaria elimination phase in Jinshan District, Shanghai City].

OBJECTIVE: To understand the awareness status of knowledge on malaria control among residents and students, so as to evaluate the effectiveness of health education during the elimination phase of malaria in Jinshan District, Shanghai City. METHODS: In 2010 and 2014, the stratified sampling and cluster sampling methods were taken to selected the investigation sites, including 3 villages, 1 middle schools, 1 primary school, then the residents above 15 years old and the students in the above selected sites were investigated by questionnaires to understand their awareness status on malaria control. RESULTS: In 2010, the general awareness rates of malaria control knowledge of the study objects were 74.22%, and those of the residents, middle school student, and primary school students were 75.68%, 61.86% and 72.20%, respectively. There was no significant difference between the awareness rates of objects with different gender (χ2 = 1.755, P > 0.05). The rate of the residents was higher than that of the students (χ2 = 59.838, P < 0.01). From 2010 to 2014, a serious of health education on malaria control was carried out. In 2014, the general awareness rate of knowledge on malaria control was 96.03%, and those of the residents, middle school student, and primary school students were 92.28%, 98.59% and 99.49%, respectively. The awareness rate of the students was higher than that of the residents (χ2 = 275.794, P < 0.01). CONCLUSIONS: Through the health education and community advocacy, the awareness rates of knowledge on malaria control among residents and students have improved and met the qualification of malaria elimination in Jinshan District.

Molecularly imprinted SPE coupled with HPLC for the selective separation and enrichment of alkyl imidazolium ionic liquids in environmental water samples.

A novel 1-butyl-3-methylimidazolium chloride ionic liquid surface imprinted solid-phase sorbent was synthesized. The as-prepared material was characterized by SEM, Brunauer-Emmett-Teller surface area analysis and Fourier Transform IR measurements. Then its adsorption properties for alkyl imidazolium ionic liquids, including adsorption capacities, adsorption kinetics, and properties of selective separation and enrichment were studied in detail. It was shown that the ionic liquid surface imprinted polymer exhibited high selective recognition characteristics for the imidazolium chloride ionic liquids with short alkyl chains (C(n)mimCl, n = 2, 4, 6, 8) and the adsorption equilibrium was achieved within 25 min. Various parameters were optimized for the 1-butyl-3-methylimidazolium chloride ionic liquid surface imprinted polymer SPE column, such as flow rate, eluent solvent, selectivity, and reusability of the column. Then, the SPE column coupled with HPLC was used for the determination of alkyl imidazolium ionic liquids. Experimental results showed that the existence of their structural analogs and common concomitants in environmental matrices did not affect the enrichment of 1-butyl-3-methyl imidazolium chloride ionic liquid. The average recoveries of 1-butyl-3-methylimidazolium chloride ionic liquid in spiked water samples were in the range of 92.0-102.0% with the RSD lower than 5.8%.

Can the pectoral fascia integrity be preserved during subfascial breast augmentation through the axillary approach?

BACKGROUND: Although many authors recently have reported good results with subfascial breast augmentation, it still is controversial whether the integrity of the pectoral fascia can be preserved. Some authors think the pectoral fascia will be broken during the operation because it is thin and weak. Therefore, this study aimed to investigate whether the integrity of the pectoral fascia can be preserved during subfascial breast augmentation through an axillary incision without endoscopic assistance. METHODS: For this study, 10 patients underwent subfascial augmentation mammaplasty through the axillary approach. The technique was used for patients with small or moderate breasts. The pockets were made with the fingers. The area beyond the reach of the fingers was dissected using a breast dissector. Then the pocket and major pectoral fascias were examined with an endoscope. The endoscope was used only to inspect the fascia and major pectoral muscle after the subfascial dissection was completed. The fascia and surgical effects were evaluated. RESULTS: The integrity of 11 (55%) of 20 pectoral fascias in 10 patients was preserved during the surgery. Four fascias (20%) were broken at about the fourth intercostal space or at the fifth costa. In five breasts (25%), the superficial layer of the pectoral muscle was split, but the integrity of the fascia was maintained. All the patients except one with asymmetric breasts achieved satisfactory results. There was no active bleeding, hematoma, infection, or fibrous capsule contracture during the follow-up period. CONCLUSION: The integrity of most pectoral fascias (11 + 5 fascias) could be preserved through the axillary approach during subfascial breast augmentation without endoscopic assistance. Even if the lower portion of the pectoral fascia was broken, this did not interfere with the aesthetic outcome or the normal postoperative recovery.

[Extraction and two-dimensional liquid chromatographic fractionation of plasma membrane proteome of mouse liver cells].

OBJECTIVE: To extract the plasma membrane proteins from mouse liver cells and investigate the approach for fractionating the protein mixtures by two-dimensional liquid chromatography. METHODS: The plasma membrane of the liver cells from 10 mice was extracted by differential centrifugation and sucrose density-gradient centrifugation. The plasma membrane proteins were exchanged with the start buffer and separated by chromatofocusing in the first-dimensional fractionation. The final results were transformed into UV/pI maps using ProteoVue software. RESULTS: We successfully extracted the plasma membrane proteins from mouse liver cells. Sixteen fractions between pH 8.5-4.0 were recovered in the first-dimensional chromatofocusing followed by 2D- chromatographic fractionation, and the results were displayed as UV/pI maps. CONCLUSION: This approach for fractionating the mouse liver cell plasma membrane protein study provides the foundation for further studies on the functions of plasma membrane proteins and differential proteome of diseases.