Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review / 中华儿科杂志

Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder", and "PEX6 gene" both in Chinese and English. The main clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation were summarized. Results: The 2 male neonates both developed clinical manifestations as dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch after birth. Biochemical parameters indicated elevated bile acids, and the cranial ultrasound showed the enlarged bilateral ventricles and subependymal cyst in both 2 neonates. Zellweger syndrome was confirmed by whole exome sequencing, and the results revealed PEX6 gene variation in the 2 neonates, including compound heterozygous variants c.315G>A and c.2095-3T>G, and homozygous variant c.506_507del. Case 1 was hospitalized for 5 days, and case 2 for 32 days; they both died shortly after being discharged (the specific time is unknown). Literature review found 26 patients, including 2 neonates in this study, with Zellweger spectrum disorder caused by PEX6 gene defect reported in 1 Chinese article and 11 English articles. Clinical features included hearing loss (19 cases), developmental delay (19 cases), vision impairment (19 cases), elevated very long chain fatty acids (17 cases), brain malformations (15 cases), hypotonia (12 cases), hepatic insufficiency (12 cases), distinctive facies (10 cases), and dental impairment (9 cases). Compound heterozygous variations dominated the variation types (15 cases), and the frameshift variations (16 cases) were the main pathogenic variations. Conclusions: Zellweger spectrum disorder should be considered when neonates show hypotonia, feeding difficulty, distinctive facial appearance, brain malformations and failure of hearing screening, or when older children show retinitis pigmentosa, sensorineural hearing loss, amelogenesis imperfecta and developmental delays. Detection of genetic variation in the PEX gene is crucial for definitive diagnosis.

Steroid Receptor Coactivator 3 Regulates Synaptic Plasticity and Hippocampus-dependent Memory / 神经科学通报·英文版

Steroid hormones play important roles in brain development and function. The signaling of steroid hormones depends on the interaction between steroid receptors and their coactivators. Although the function of steroid receptor coactivators has been extensively studied in other tissues, their functions in the central nervous system are less well investigated. In this study, we addressed the function of steroid receptor coactivator 3 (SRC3) - a member of the p160 SRC protein family that is expressed predominantly in the hippocampus. While hippocampal development was not altered in Src3

Steroid Receptor Coactivator 3 Regulates Synaptic Plasticity and Hippocampus-dependent Memory / 神经科学通报·英文版

Steroid hormones play important roles in brain development and function. The signaling of steroid hormones depends on the interaction between steroid receptors and their coactivators. Although the function of steroid receptor coactivators has been extensively studied in other tissues, their functions in the central nervous system are less well investigated. In this study, we addressed the function of steroid receptor coactivator 3 (SRC3) – a member of the p160 SRC protein family that is expressed predominantly in the hippocampus. While hippocampal development was not altered in Src3

Clinical application of LI-RADS in diagnostic evaluation of hepatocellular carcinoma / 实用放射学杂志

Objective To evaluate the reliability and validity of hepatocellular carcinoma (HCC)using the liver imaging reporting and data system (LI-RADS).Methods By using the LI-RADS v2013.1,two radiologists evaluated 1 62 patients with cirrhosis or with a risk of HCC according to an inclusion criteria.The Kappa value was used to evaluate the consistency between two different diagnoses and was compared with pathological and follow-up results.The accuracy of the LI-RADS was assessed including sensitivi-ty,specificity,positive predictive value,negative predictive value,positive likelihood ratio,negative likelihood ratio and accuracy rating.Results In all 1 62 patients,there were HCCs in 97 patients including 7 patients belonging to the LR3,benign diseases in 50,and other kinds of malignancy in 1 5.The Kappa value was 0.882 (P =0.000)between two observers on LI-RADS grading. The sensitivity,specificity and accuracy rating of LI-RADS grading in diagnosing HCC was 100.00%,91.30%,and 97.06%,re-spectively.Conclusion The LI-RADS has high consistency and stability in evaluation and diagnosis of HCC by enhanced CT.LR3 di-agnosis should be cautious because of a susceptible development to HCC,which can be improved through the combination of clinic and laboratory examination.

Magnetic Resonance Venography for Diagnosis of Cerebral Venous Sinus Thrombosis:A Meta-analysis / 中国医学影像学杂志

Purpose cerebral venous sinus thrombosis (CVST) has no specific manifestations in clinic, it is often misdiagnosed and the treatment is delayed. This paper aims to evaluate magnetic resonance venography (MRV) in the detection of CVST by meta-analysis. Materials and Methods The articles concerning the diagnosis of CVST by using MRV were searched in the databases such as Cochrane Library, PubMed, Embase, Web of Science, CBM, VIP, Wanfang and CNKI. The QUADAS items were used to evaluate the quality of the included studies. The results were analyzed with software Metadisc1.4 and RevMan 5.0. The pooled weighted sensitivity, specificity, and the diagnostic odds ratio were calculated, and complete summary receiver operating characteristic curve (SROC) was drawn. Results Twelve studies of eight articles met the inclusion criteria. The pooled sensitivity, specificity, diagnostic odds ratio and area under SROC curve for the MRV were 0.86 (0.80-0.91), 0.87 (0.83-0.93), 29.65 (12.48-70.47), and 0.9125, respectively. Conclusion MRV can be used as an effective method with its high value in the diagnosis of CVST.

Underlying mechanisms of Tai-Chi-Chuan training for improving balance ability in the elders / 中国结合医学杂志

<p><b>OBJECTIVE</b>To compare balance ability between elderly individuals who practiced Tai-Chi-Chuan (TCC) for average 9.64 years and elderly individuals who did not practice TCC and its relationship with lower extremity muscle strength and ankle proprioception.</p><p><b>METHODS</b>Twenty-five elderly volunteers were divided into two groups according to their TCC practcing experience. Sixteen were TCC group and the other nine were control population. Subjects completed a static balance test and ankle proprioception test using a custom-designed evaluation system, and concentric and eccentric knee extensor and flexor muscle strength tests. Subjects stood on the plate form to measure the proprioception in functional standing position which was differed from the previous studies. Multiple linear regressions were also used to predict the important factor affecting balance.</p><p><b>RESULTS</b>TCC group performed better than the control group in balance, proprioception, and muscle strength of lower extremity. The proprioception was the most important factor related to balance ability and it can be accounted for explaining 44% of variance in medial-lateral sway direction, and 53% of variance in antero-posterior sway direction. The proprioception may be a more important factor which affecting the balance ability.</p><p><b>CONCLUSION</b>TCC training is recommended to the elders; as it can improve balance ability through better proprioception.</p>

Feasibility of a novel two-piece nasogastric feeding tube for patients with dysphagia

<p><b>INTRODUCTION</b>The exposed section of a traditional nasogastric (NG) tube can interfere with patients' social activities and thereby result in distress. This study was conducted to evaluate the feasibility and safety of a novel two-piece NG tube for patients with dysphagia.</p><p><b>METHODS</b>Ten patients with dysphagia were recruited between November 2011 and May 2012. Patients who were unconscious or in critical condition, had a traditional NG tube < 50 cm or > 60 cm in fixed length, or were unable to follow instructions or sign consent forms were excluded. The two-piece NG tube, which was placed in the patients for one week, comprised a removable external tube that can be joined to an internal tube via a T-connector, which was placed close to the naris. Events related to safety (e.g. nasal pressure sores, number of unplanned extubation, displacement and spontaneous migration of the NG tube, other unpredictable injuries) and effectiveness (e.g. liquid food spills, tube obstruction, perfusion rate, other adverse circumstances) were assessed daily.</p><p><b>RESULTS</b>All patients received feeding without complication using the two-piece NG tube and none experienced premature removal of the tube. No serious NG tube complications or malfunctions were observed.</p><p><b>CONCLUSION</b>The results of this study indicate that the two-piece NG feeding tube is a feasible option for patients with dysphagia. Future improvements to the connector may help enhance its performance. A rigorous randomised controlled trial to examine the effects of the two-piece NG tube on patients' quality of life and quality of medical care is being planned.</p>

Biblimetric study of schistosomiasis literature based on Web of Science / 中国血吸虫病防治杂志

Objective To understand the progress in schistosomiasis resoareh over the last l0 years through a biblimetrie approaeh.Methods The literature was searched in Web of Science citation database (1998-2008)by using the following terms: schistosomiasis* or schistosoma or schistosome. The searching results were analyzed by the Derwent Analytics software concerning the article numbers and the total citations by countries,institutes and authors, and journal distribution, in an effort to discover schistosomiasis research progress in and outside China. Results The annual number of schistosomiasis articles published in Web of Science had little change from 1998 to 2008.The US phyed a leading role in the schistosomiasis research in the world.China had made a great progress in schistosomiasis research in the past years.but Was still lagging behind developed countries.The vaccine and drug development,the immune mechanisms resulting in morbidity were the focuses of schistosomiasis research in the world.Meanwhile.the transcriptome and proteome of Schistosoma japonicum,schistosomiasis vaccines and drugs,spatial epidemiology Were the focuses of research in China.Conclusion The research of schistosomiasis in China has been progressing rapidly,but is still lagging behind its international peers.

Effect of yizhi jiannao granule on the behavior and neuron apoptosis in SAMP/8 mice / 中南大学学报(医学版)

OBJECTIVE@#To investigate the effect of yizhi jiannao granule concentration fluid (YCF) on the behavior, the apoptosis rate of hippocampus neuron and the expression of apoptosis gene Bcl-2, Bax in senescence accelerated mice Senile-Prone/8 (SAMP/8), and to discuss some mechanism of traditional chinese medicine YCF in improving the capability of learning and memory.@*METHODS@#Forty 6-month old SAMP/8 mice were randomly divided into the old group, huperzine A (Hup-A) group and YCF group. Ten 4-month old SAMP/8 mice were served as a young control group. Four groups were given different drugs for 8 weeks, their behavior changes were observed, and the hippocampus were taken out to examine the apotosis rate by flow cytomeutry (FCM) and the expression of Bcl-2, Bax mRNA by RT-PCR.@*RESULTS@#In the YCF group, the escape latency was significantly shortened, the time of swim in the platform quadrant significantly increased, the apoptosis rate of hippocampus neural decreased; the level of Bcl-2 mRNA and the rate of Bcl-2/Bax increased, and the level of Bax mRNA decreased.@*CONCLUSION@#Yizhi jiannao granule can decrease the neuron apoptosis rate and the Bax level, increase the Bcl-2 level, and modulate the rate of Bcl-2/Bax in SAMP/8 brain, which is probably part of the mechanisms of inhibiting the apoptosis and improving learning and memory.

Fumigating insecticidal activity of 5 essential oils against Culex pipiens quinquefasciatus / 第二军医大学学报

Objective:To observe the fumigating insecticidal activity of 5 essential oils(asteraceae oil,rutaceae oil,mentha piperita oil,carvacryl oil and citronella oil) against Culex pipiens quinquefasciatus.Methods: Fumigating insecticidal activity was investigated by airtight fumigation in conical flask.Results: After different fumigating time,5 essential oils showed different toxity against Culex pipien quinqucfasciatus.Of 5 essential oils,rutaceae oil was the most toxic, with the LC 50 values being 0.013(0.5 h),0.055(4 h) and 0.058(24 h); asteraceae oil was the lowest toxic one, with the LC 50 values being 0.948(0.5 h),0.427(4 h) and 1.711(24 h).When LC 95 values of the 5 essential oils were used to treat Culex pipiens quinquefasciatus,the shortest fumigating time appeared in carvacryl oil(6.087 min) and the longest in citrinella oil(21.143 min).Conclusion: All the 5 essential oils have considerable insecticidal effects against Culex pipiens quinquefasciatus.Rutaceae oil and carvacryl oil are better than the others,which provides basic informations for the related field experiments.

Study on the stability of forsythiaside / 中成药

Objective: To study the stability of forsythiaside. Methods: The stability of forsythiaside was studied by using UV spectrum obsiving the changes of spectrums in different conditions. Results: Forsythiaside was very unstable under the condition of alkali (pH=9.40), relatively stable at the pH=6.86, 60?Cand stable at the pH= 4.03 . Conclusion: The stability of forsythiaside can be affected by the condition of the acid, alkali and temperatures obviously.