OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). METHODS: A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis. RESULTS: The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS. CONCLUSION The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.
Humans ; Child ; Female ; Abnormalities, Multiple/genetics* ; Malignant Hyperthermia/genetics* ; Skin Abnormalities/genetics* ; Heterozygote ; Mutation ; Receptors, Nicotinic/genetics*

Objective To standardize the selection of clinical research outcome indicators,which can objectively evaluate the clinical efficacy or effect of traditional Chinese medicine in the treatment of myasthenia gravis.This study aims to standardize the construction of the core outcome set of clinical research of traditional Chinese medicine in the treatment of myasthenia gravis.Methods We followed the core outcome set development specification(COS-STAD)to carry out research,established a research working group,which set up a Delphi-method advisory group.Two graduate students of working group conducted a document research and meetings of patients to establishe an outcome set item pool of myasthenia gravis in clinical trials of Chinese medicine under the instruction of other members.With the questionnaire based on the content of item pool,we then carried out Delphi-method expert consultations and a consensus meeting.Results The core outcome set of clinical research on myasthenia gravis treated with traditional Chinese medicine included five outcome domains:endpoint outcome,myasthenia gravis symptom evaluation,medication evaluation,quality of life evaluation and safety outcome;Nine outcome measures:recurrence rate,incidence of hormone complications,incidence of crisis,QMGS scale(MGFA quantitative myasthenia gravis score),daily activity scale of MG patients(ADL),analysis of immunosuppressant dosage,analysis of glucocorticoid dosage,analysis of cholinesterase inhibitor dosage,and incidence of adverse events.Conclusion The five outcome domains and nine outcome measures included in the core outcome set can be used as outcome options for the efficacy evaluation of myasthenia gravis clinical research.

Objective Nicotinamide phosphoribosyltransferase (Nampt) is a new therapeutic target for ischemic stroke. The aim of this study was to investigate protective effect of liver-derived Nampt on ischemic stroke. Methods Liver-specific Nampt knockout mice were generated using the Cre/loxP system. Nampt^loxP/loxP mice were crossed with liver-specific Cre recombinase expression mice (Alb-Cre), and the progeny genotypes were identified by polymerase chain reaction. Body weight of knockout mice and control mice were measured. Nampt in liver and brain was determined by Western blot assay. Middle cerebral artery occlusion (MCAO), a classical ischemic stroke model, was generated in liver-specific Nampt knockout mice and control mice by electrocoagulation. After 24 h of modeling, neurological deficit scores of each group were evaluated and TTC staining was performed to determine the cerebral infarction volume. The level of plasma Nampt in each group was determined by ELISA. Results Liver-specific Nampt knockout mice with the genotype of Nampt^loxP/loxPAlb-Cre were successfully constructed. The hepatic Nampt expression in knockout mice was significantly decreased by 74.2% compared to control mice, while there was no significant difference in the expression of brain Nampt protein between the knockout group and the control group. Specific knockout of liver Nampt gene expression had no effect on the body weight of mice. Under normal physiological conditions, there was no significant difference in plasma Nampt levels between liver-specific Nampt knockout mice and control mice of the same gender. 24 h after MCAO modeling, there were no significant differences in neurological deficit scores, cerebral infarct volume and plasma Nampt concentration between liver-specific Nampt knockout group and control group. Conclusion Liver-specific Nampt knockout mice are successfully constructed. Liver-derived Nampt has no significant protective effects on ischemic stroke.

Sepsis can cause life-threatening organ dysfunction and is one of the leading causes of death in critically ill patients. Early diagnosis and correct treatment of sepsis are the key to reducing the fatality, however, there is no golden standard for diagnosis at present. The ideal sepsis biomarker can be used for early diagnosis and predicting poor prognosis with good sensitivity and specificity. There are many candidate biomarkers for sepsis. This article reviews the latest developments on acute phase proteins, soluble receptors, non-coding RNAs and other candidate biomarkers of sepsis that attracted more recent attention.

Objective To study and investigate the efficacy of alteplase combined with low molecular weight heparin sodium in the treatment of patients with submaximal pulmonary embolism and its influence on related indicators, and to guide clinical medication. Methods Eighty patients with large pulmonary embolism treated in our department from August 2013 to August 2017 were randomly divided into observation group and control group, with 40 cases in each group. The control group was treated with subcutaneous injection of low molecular weight heparin sodium. In combination with oral anticoagulation with warfarin, the observation group was treated with alteplase on the basis of the control group. After 1 week of continuous treatment, the clinical efficacy was compared between the 2 groups, and pulmonary function and arterial partial pressure of oxygen (PaO2) were compared before and after the treatment. The partial pressure of carbon dioxide (PaCO2) was used to compare the levels of serum B-type natriuretic peptide (BNP) , troponin Ⅰ (cTnⅠ) , homocysteine (Hey) , Ddimer (D-D) , and bleeding before and after the treatment in both groups. Results The total effective rate was97.50％ in the observation group, which was significantly higher than that in the control group of 75.00％ (P <0.05). There was no significant difference in terms of FEV1％, FEV1/FVC, PaO2 and PaCO2 between the two groups before the treatment (P> 0.05) , but FEV1％, FEV1/FVC, PaO2 in the observation group were significantly higher than those in the control group after the treatment, and PaCO2 was significantly lower (P <0.05); There was no significant difference regarding to serum BNP, cTnl, Hey and D-D levels between the two groups before the treatment (P> 0.05) , but after the treatment, the indexes of the observation group were significantly lower than those of the control group (P < 0.05). There was no statistical difference in the incidence of bleeding between the two groups (P> 0.05). Conclusion Alteplase combined with low-molecular-weight heparin sodium in the treatment of the next large-area pulmonary embolism can improve the efficiency of treatment, lung function and the prognosis, but will not inc-rease the risk of bleeding. It could be widely used in clinical practice.

To compare the safety and efficacy between endoscopic submucosal dissection (ESD) and radical surgery (RS) for the treatment of large colorectal laterally spreading tumors (LST) larger than 50 mm in diameter. 
 Methods: From January 2011 to January 2016, a total of 82 patients were diagnosed as large LST without deep submucosal invasion (T1 SM2, ≥1 000 µm) in the Second Xiangya Hospital of Central South University. Among them, 52 patients were treated by ESD and the other 30 patients were treated by RS [laparoscopic-assisted colectomy (LAC)/open colectomy (OC)]. The clinic data were retrospectively analyzed and the en-bloc resection rate, en-bloc R0 resection rate, local recurrence, complication, procedure time and hospital stay were collected and analyzed.
 Results: The lesion sizes were (5.80±1.20) cm and (5.53±0.69) cm in diameter for ESD and RS groups, respectively (P>0.05). En-bloc resection rates, en-bloc R0 resection rates and recurrence rates showed no significant difference between the ESD group and RS group (P>0.05). Complication rate of the ESD group (7.69%, 4/52) was much lower than that in the RS group (33.33%, 10/30; P<0.01). The ESD group also had a shorter hospital stay and operation time than the RS group (P<0.05).
 Conclusion: ESD appears to be a safe, minimal invasive and effective strategy for treating large LST and it is obviously better than RS in the aspects of hospital stay, operation time and short-term complication.
Colorectal Neoplasms ; pathology ; surgery ; Dissection ; Endoscopic Mucosal Resection ; standards ; Humans ; Intestinal Mucosa ; pathology ; surgery ; Neoplasm Recurrence, Local ; pathology ; surgery ; Retrospective Studies ; Treatment Outcome

Objective: To evaluate the therapeutic effect and security of Buyang Huanwu decoction in treatment of the ischemic stroke recovery. Methods: We retrieved the relevant articles of random and semi- random control trials in treating ischemic stroke recovery using Buyang Huanwu decoction, published in China National Knowledge Infrastructure (CNKI), the Wanfang Data, the Weipu Information Resources System, the Chinese Biomedical Literature Database (CBM), Cochrane Library, PUBMED and MEDLINE from the date of establishment until to March 2018. The quality of studies was evaluated according to the Cochrane Reviewers?? handbook 5.1, and the study was carried out using Cochrane system assessment methods. Statistical analysis was performed with Rev Man 5.3. Results: Altogether 39 studies and 3539 cases of ischemic stroke recovery were enrolled. In terms of clinical efficacy, the difference between Buyang Huanwu Decoction and Western Medicine conventional therapy in the treatment of ischemic stroke was significantly different from that of conventional western medicine therapy [RR =1.26, 95％CI (1.20, 1.31), Z =10.05, P ＜ 0.00001], and the difference between Buyang Huanwu Decoction and other Chinese patent medicines was statistically significant [RR =1.12, 95％CI(1.06, 1.19), Z =3.82, P =0.0001]; neurological deficit NIHSS score [MD =-2.55, 95％CI (-3.10, -2.01), Z =9.20, P ＜ 0.00001]; clinical neurological deficit score (CSS) [MD =-3.85, 95％CI (-5.21, -2.50), Z =5.56, P ＜ 0.00001]; limb motor function score (FMA) [MD =6.10, 95％CI (1.19, 11.01), Z =2.43, P =0.01]; Barthel Index of Daily Living Activity Scale [MD =9.09, 95％CI (6.95, 11.23), Z =8.33, P ＜ 0.00001]; In terms of improving blood rheology index, serum peroxide lipid (LPO), serum superoxide dismutase (SOD) and other biochemical indicators, due to the small number of studies, it may have a certain effect. Most studies did not report adverse reactions. Conclusion: Based on the existing clinical evidence, combination of Buyang Huanwu decoction and western medicine has higher clinical efficacy than western medicine alone for the ischemic stroke recovery. Due to the limited methodological quality of the included studies, more high- quality RCTs with large scale are needed to increase the strength of the above evidence.

Objective To discuss the effectiveness between arthroscope cleaning combined with exercise therapy and exercise therapy in senile osteoarthritis patients.Methods Two hundred and ten senile osteoarthritis patients were divided into operation group and non-operation group by random digits table method with 105 cases each.Patients in operation group received the arthroscope cleaning and exercise therapy,and patients in non-operation group received the exercise therapy alone.The visual analogue score (VAS) and international knee documentation committee knee evaluation form (IKDC) score before treatment and 1,6 and 12 months after treatment were compared.Results A total of 210 patients received the analysis of result without drop-out.There were no statistical differences in VAS and IKDC scores before treatment and 6 and 12 months after treatment between operation group and non-operation group (P ＞ 0.05).The VAS and IKDC scores 1,6,12 months after treatment were significantly improved compared with those before treatment in operation group,and there were statistical differences (P ＜ 0.05).The VAS and IKDC scores 6,12 months after treatment were significantly improved compared with those before treatment in non-operation group,and there were statistical differences (P ＜ 0.05).According to the IKDC score,in operation group 15 patients were excellent,61 patients were fine,19 patients were general and 10 patients were bad after treatment,and good effectiveness rate was 72.38％ (76/105).In non-operation group,14 patients were excellent,59 patients were fine,20 patients were general and 12 patients were bad after treatment,and good effectiveness rate was 69.52％ (73/105).There was no statistical difference in the good effectiveness rate between 2 groups (P ＞ 0.05).Conclusions Exercise therapy with guidance can significantly improve the function of senile knee joint osteoarthritis,and ease joint pain symptoms.Arthroscope cleaning combined with exercise therapy can relieve the joint acute inflammatory symptoms,but it has no significant clinical effectiveness in long-term treatment of osteoarthritis.

Objective To analyze the positive report time,distribution and antimicrobial resistance of pathogens isolated from blood culture at a hospital,so as to provide laboratory basis for prevention,contro1 ,and rational antimicrobialuse for bloodstream infection.Methods From January 2013 to January 2015,blood culture specimens of outpatients and inpatients were performed bacterial identification and antimicrobial susceptibility testing, antimicrobial resistance was analyzed.Results A total of 1 973 blood culture specimens were sent by clinical depart-ments,219 (11 .10%)of which were isolated pathogens.Most positive blood culture specimens were from depart-ment of paediatrics (n = 199 ).Isolation rates of gram-negative bacteria,gram-positive bacteria,and fungi were 44.34% (n=98),50.23% (n=111),and 5.43% (n=12)respectively;the main pathogens was coagulase-negative staphylococcus (n=53,23.98%),followed by Escherichia coli (n=39,17.65%),Staphylococcus aureus (n=23, 10.41 %),Klebsiella pneumoniae (n =15,6.79%),and Pseudomonas aeruginosa (n =13,5.88%),the average positive blood culture report time of top five pathogens was 1 -2 days.The detection rates of extended-spectrumβ-lactamase-producing Escherichia coli and Klebsiella pneumoniae accounted for 53.85% and 53.33% respectively, susceptibility of gram-negative bacilli to carbapenems was relatively high(76.92% - 100%);methicillin-resistant isolates accounted for 39.13% among Staphylococcus aureus and 64.15% among coagulase-negative staphylococ-cus,vancomycin-resistant and teicoplanin-resistant strains were not found;resistant rate of Candida glabrata to 5-fluorocytosine was 14.29%,but was susceptible to amphotericin B.Conclusion The major pathogens isolated blood culture are gram-positive bacteria,in order to reduce the emergence of drug-resistant strains,clinicians should choose antimicrobial agents according to blood culture results and antimicrobial susceptibility testing results.

Nicotinic acetylcholine receptors (nAChRs) ,also known as neuronal nicotinic receptors ,are widely expressed throughout the central and peripheral nervous system .nAChRs play crucial roles in pain signaling .Recently ,agonists that tar-get specific nAChR subtypes have shown substantial efficacy in a wide range of acute and chronic pain models ,contributing to developing novel analgesic drugs with low drug dependence .Positive allosteric modulators offer new approaches for increasing the potency and therapeutic window of these drugs .This review summarizes the advances in nicotinic acetylcholine receptors as analgesic targets and anticipate the future directions in this field .