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1.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 29-36, 2024.
Article in Chinese | WPRIM | ID: wpr-1016459

ABSTRACT

ObjectiveTo investigate the effects of Tongluo Juanbi granules on chondrocyte apoptosis and Toll-like receptor 4 (TLR4)/myeloid differentiation factor 88 (MyD88)/nuclear factor-κB (NF-κB) signaling pathway of rabbits with knee osteoarthritis (KOA) and study the mechanism of Tongluo Juanbi granules in the prevention and treatment of KOA. MethodThirty New Zealand rabbits were randomly assigned to the following five groups (n=6): sham group, model group, low-dose and high-dose groups of Tongluo Juanbi granules (4.1 and 8.2 g·kg-1·d-1), and celecoxib group (10.9 mg·kg-1·d-1). The KOA model was established by destabilization of the medial meniscus (DMM) for six weeks. Six weeks after the modeling, the drug was given once a day for eight weeks. The pathological changes of cartilago articularis were observed by hematoxylin-eosin (HE) staining and Safranin O-Fast Green staining. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining was performed to detect chondrocyte apoptosis. Enzyme-linked immunosorbent assay (ELISA) was used to detect the contents of interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) in synovial fluid. The mRNA and protein expression levels of genes related to the TLR4/MyD88/NF-κB signaling pathway were detected by real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) and Western blot, respectively. ResultCompared with the sham group, the cartilago articularis of the model group significantly degenerated. Mankin's score was increased (P<0.01), and the contents of IL-1β and TNF-α in synovial fluid were increased (P<0.01). The number of apoptosis of chondrocytes was increased (P<0.01). The mRNA and protein expressions of TLR4, MyD88, and NF-κB p65 in cartilage tissue were up-regulated (P<0.01), while the mRNA and protein expressions of Bcl-2 were down-regulated (P<0.01). Compared with the model group, chondrocyte degeneration in both low-dose and high-dose groups of Tongluo Juanbi granules was improved, and Mankin's score was decreased (P<0.01). The contents of IL-1β and TNF-α were decreased (P<0.01), and the number of apoptosis of chondrocytes was decreased (P<0.01). The mRNA and protein expressions of TLR4, MyD88, and NF-κB p65 in cartilage tissue were down-regulated (P<0.01), while the mRNA and protein expressions of Bcl-2 were up-regulated (P<0.01). In addition, in the above observation indicators, the high-dose group of Tongluo Juanbi granules was significantly superior to the low-dose group of Tongluo Juanbi granules. ConclusionTongluo Juanbi granules could inhibit chondrocyte apoptosis in rabbits with KOA and improve cartilage degeneration, which may be related to inhibiting inflammatory responses mediated by TLR4/MyD88/NF-κB signaling pathway.

2.
Chinese Medical Ethics ; (6): 741-745, 2024.
Article in Chinese | WPRIM | ID: wpr-1012972

ABSTRACT

Moral emotion is a kind of psychological activity that generated when dealing with realistic moral relationship or analyzing human behaviors, expressed as emotional emotions of love and hatred. From the perspective of moral injury research, on the one hand, moral emotion expresses as emotional collapse, which reflects the huge gap between reality and moral cognition, and deviates from values; on the other hand, it shows the typical symptoms of moral injury, such as shame, guilt, anger, apathy and so on. Based on this, the therapy of moral injury should start from solving the ethical conflict of moral injury, and carry out the healing process of "ethical and moral cognitive education, enlightening the thinking of core value issues, encouraging and guiding independent moral practice" in stages according to the different levels of individual moral emotion. As a result, moral emotion can be rational enough to promote healing moral injury.

3.
Journal of Public Health and Preventive Medicine ; (6): 61-64, 2023.
Article in Chinese | WPRIM | ID: wpr-998524

ABSTRACT

Objective To investigate etiologic characteristics of hand, foot, and mouth disease (HFMD) in a sentinel hospital in Guangzhou from 2017 to 2021, and to provide a scientific basis for the prevention and control of HFMD. Methods Descriptive epidemiologic methods were used to analyze the etiologic characteristics of mild cases of HMFD during 2017-2021. Results A total of 1 633 specimens of mild cases of HMFD were collected from 2017 to 2021. The total enterovirus (EV) positive rate was 78.41%, among which the positive rates of the main pathogen Cox A6, Cox A16, Cox A10, and EV71 were 40.83%, 17.68%, 6.13%, and 1.62%, respectively. The total positive rate of enteroviruses and the positive rate of enteroviruses of all types in each year were statistically different (P<0.001). In 2017-2021, the prevalence of HFMD in Guangzhou was mainly Cox A6, followed by Cox A16 which had the highest positive rate in 2018 (24.62%). The positive rate of EV71 decreased year by year. Cox A6 was highly prevalent from June to December every year, while the detection rate of Cox A16 was high from April to August every year. The positive detection rate of EV71 was high from January to May in 2017 and low from 2018 to 2021, with no epidemic peak. Conclusion From 2017 to 2021, the main pathogen of HMFD in Guangzhou is Cox A6, not EV71 or CoxA16, which suggests that it is of great significance to strengthen the monitoring of epidemic trend of HFMD for the prevention and control of HFMD.

4.
Journal of Clinical Hepatology ; (12): 2506-2512, 2023.
Article in Chinese | WPRIM | ID: wpr-998322

ABSTRACT

Since the 1970s, patients with chronic pancreatitis (CP) have benefited from total pancreatectomy with autologous islet cell transplantation (TPAIT). With the continuous development of surgical techniques and perioperative management over the past few decades, there have been improvements in islet cell function, insulin independence rate, and the survival rate of patients. This article summarizes the preoperative indications for TPAIT, the development of surgical operations, postoperative management and monitoring, and prognosis, so as to help clinicians learn more about TPAIT.

5.
Chinese Journal of School Health ; (12): 127-130, 2023.
Article in Chinese | WPRIM | ID: wpr-964389

ABSTRACT

Objective@#To analyze the ear, nose, and throat exam of some freshmen in the military college entrance examination in Shandong Province in 2020 and to facilitate adolescent targeted health promotion.@*Methods@#The 1 411 freshmen participating in the military college entrance examination in Jinan, Zibo and Weifang of Shandong Province were included. The ear, nose, and throat exam were performed by professionals using electric otoscope, 5 meter whispering test, and front rhinoscope.@*Results@#Nasal septal deviation and hypertrophy of inferior turbinate accounted for the highest proportion. Among 489 cases of nasal septum deviation, the detection rate of Jinan (15.97%) was significantly lower than that of Weifang (43.60%) and Zibo (46.53%) ( χ 2=63.32, P <0.05). For deviation of nasal septum, the detection rate in students with urban residence (31.53%) was significantly lower than that of rural students (39.03%) ( χ 2=4.11, P <0.05). Seventy two cases of inferior turbinate hyperplasia were detected, and the detection rate in Jinan (2.99%) was significantly lower than that in Weifang (6.51%) and Zibo (6.04%) ( χ 2=6.63, P <0.05). The detection rate of tonsil hypertrophy was significantly lower in boys (4.63%), students from urban area (3.94%), compared with that of girls(9.56%) and rural students (6.70%) ( χ 2=5.35,4.86, P <0.05). In pharyngeal examination, tonsil hyperplasia was the most common condition of enlarged tonsils ( n =214), which was significantly higher in Jinan(22.36%) than that of Weifang (11.71 %) and Zibo (10.74%) ( χ 2=22.39, P <0.05), and was significantly lower in boys (14.38%) and rural students (12.40%) than that in girls (22.79%) and urban students (17.24%) ( χ 2=4.70,4.65, P <0.05).@*Conclusion@#Nasal septum deviation and tonsil hypertrophy are the most prevalent upper airway diseases among freshmen participating in the military college entrance examination. Prevention and treatment of nasopharynx diseases should be emphasized.

6.
Chinese Journal of Medical Genetics ; (6): 851-855, 2023.
Article in Chinese | WPRIM | ID: wpr-981835

ABSTRACT

OBJECTIVE@#To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis.@*METHODS@#A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4).@*CONCLUSION@#The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.


Subject(s)
Male , Humans , Neurofibromatosis 2/genetics , Genes, Neurofibromatosis 2 , Oculomotor Nerve Diseases/genetics , Computational Biology , Genomics , Mutation
7.
Shanghai Journal of Preventive Medicine ; (12): 840-854, 2023.
Article in Chinese | WPRIM | ID: wpr-997038

ABSTRACT

Children with certain comorbidities and immunocompromising conditions are highly vulnerable to SARS-CoV-2 infection. Vaccination against SARS-CoV-2 is an important strategy to reduce death, critical illness and overall disease burden. With the evolving and increasing transmission of SARS-CoV-2, universal vaccination is essential to achieve this goal. Children with special medical conditions are considered as the priorities for SARS-CoV-2 vaccination. However, vaccine hesitancy towards the implementation of SARS-CoV-2 vaccination currently remains an urgent challenge. In order to promote the sustainable vaccination for those children in Shanghai as well as China, Shanghai municipal center for disease control and prevention, together with the national children’s medical center, children’s hospital of Fudan university and the expert group on immunization planning of the Shanghai preventive medicine association, organized a consensus expert working group to formulate the evidence-based recommendations and implementation suggestions for children with common chronic diseases, allergy history, diseases involving adverse events related to vaccination, and immunocompromising conditions, based on the published evidence of SARS-CoV-2 vaccination for populations and children with special medical conditions.

8.
Chinese Journal of Infectious Diseases ; (12): 183-189, 2023.
Article in Chinese | WPRIM | ID: wpr-992528

ABSTRACT

Objective:To investigate the clinical characteristics of family clustering pediatric and adult cases with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection in Shanghai City.Methods:A field investigation among the pediatric cases with Omicron variant infection and their household contacts from April 4 to April 30, 2022 in Children′s Hospital of Fudan University was conducted. The informations on case finding, clinical manifestations and SARS-CoV-2 vaccination status were collected. The epidemiological and clinical characteristics were compared between pediatric cases and adult cases. The independent sample t test or chi-square test was used for statistical analysis, and the relative risk ( RR) and 95% confidence interval (95% CI) were used to evaluate the protective effect of vaccination on the infection of Omicron variant. Results:There were 1 274 family members in 297 families including 370 children and 904 adults of whom 1 110(87.13%) were infected with Omicron variant, with 989(89.10%) symptomatic and 121(10.90%) asymptomatic. There were 355 children infected with Omicron variant, of whom 337(94.93%) were symptomatic, and the main manifestations were fever (96.74%(326/337)) and cough (40.36%(136/337)). Only one pediatric case with Rett syndrome developed critically severe pneumonia. A total of 194 pediatric cases had imaging examination, 64(32.99%) showed pulmonary inflammatory lesions. There were 755 adult cases infected with Omicron variant, of whom 652(86.26%) reported symptoms, and the main manifestations were fever (73.16%(477/652)) and cough (49.85%(325/652)). Among symptomatic cases, fever was more common in pediatric cases than in adult cases, while cough was more common in adult cases than in pediatric cases, and the differences were both statistically significant ( χ2=80.87 and 8.04, respectively, both P<0.01). The fever spike was higher in pediatric cases than in adult cases ((39.3±0.7) ℃ vs (38.6±0.6) ℃), and the difference was statistically significant ( t=9.85, P<0.001). The interval from the onset of symptoms to cycle threshold (Ct) value of the nucleic acid of Omicron variant≥35 was longer in pediatric cases than in adult cases ((13.0±3.1) d vs (10.9±3.6) d), and the difference had statistically significance ( t=2.97, P=0.004). Among 160 children aged 3 to 18 years, 54 (33.75%) received two-dose vaccination. Among the 904 adults, 388 (42.92%) received two-dose vaccination and 293 (32.41%) received a booster dose. In the adult cases, the risk of symptomatic infection was reduced by only 8% ( RR=0.92, 95% CI 0.86 to 0.98, P=0.014) following two-dose vaccination, and the risks of fever and cough following booster vaccination were reduced by 42%( RR=0.58, 95% CI 0.49 to 0.67, P=0.001) and 50% ( RR=0.50, 95% CI 0.34 to 0.78, P=0.001), respectively. Conclusions:Secondary attack rate and symptomatic rate of household infection are high in the context of the Omicron variant outbreak in Shanghai. Symptomatic infection is common in children and adults in household setting. Fever is the most common symptom and fever duration is short. Booster vaccination may provide certain protection against common symptoms caused by Omicron variant infection.

9.
Chinese Critical Care Medicine ; (12): 209-211, 2023.
Article in Chinese | WPRIM | ID: wpr-992004

ABSTRACT

In the process of continuous renal replacement therapy (CRRT), various factors such as the temperature of replacement fluid, the flow of fluid and the circulation of blood in cardiopulmonary bypass, lead to the temperature of the blood injected back into the body is often lower than normal. It leads to the decrease of body temperature and the occurrence of hypothermia, which can be life-threatening in severe cases. In clinical practice, medical staff mostly reduces the occurrence of hypothermia in patients with CRRT by means of the heating device of the machine, the heating of the liquid temperature box for cardiopulmonary bypass, and the application of heating blankets, but the effect is not ideal. Therefore, medical staff of the department of critical care medicine of the Second Affiliated Hospital of Anhui Medical University designed a heating device and temperature control system for CRRT dialysis fluid bag, and obtained the National Invention Patent of China (ZL 2021 1 0334906.7). The device includes a heating and thermal insulation device and a temperature control system, wherein the heating and thermal insulation device is composed of the body of the heating dialysis fluid bag and the temperature control structure, which solves the problems of safe and efficient liquid heating and thermal insulation during the CRRT process. The temperature control system can display the dynamic state of the patient's body temperature, adjust the temperature of the dialysis fluid bag in time, and monitor the temperature of the blood transfusion in real time through the cooperation of the five modules of data collection, data handle, data analysis, regulation and display. This design is applied to CRRT, which can achieve precise control of body temperature of critically ill patients, and has certain clinical significance.

10.
International Journal of Traditional Chinese Medicine ; (6): 60-66, 2023.
Article in Chinese | WPRIM | ID: wpr-989588

ABSTRACT

Objective:To explore the pharmacokinetics effect of 8 components of processed Baizhu Shaoyao San on rats.Methods:The rats were divided into processing group and unprocessing group, administered with decoction of Baizhu Shaoyao San by gavage respectively. Then, blood was collected from fundus vein at certain time to obtain the plasma. Finally, the contents of 8 components in plasma were detected and compared by UPLC-MS/MS method, and the methodology of the experiment was tested. The drug concentration in blood and the collection time of blood were analyzed by DAS software, and the time curves of different groups were obtained, the pharmacokinetic parameters were calculated.Results:The blood peak concentration, peak time, area under the drug time curve, and average residence time of 8 components in the serum of rats in the raw product group and the fried product group were different to varying degrees.Conclusion:Processed Baizhu Shaoyao San could influence the behavior of the components measured in rats, which may affect the clinical therapeutic effect of Baizhu Shaoyao San.

11.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 171-177, 2023.
Article in Chinese | WPRIM | ID: wpr-1014682

ABSTRACT

AIM: To evaluate the bioequivalence of cinacalcet hydrochloride tablets in healthy Chinese volunteers. METHODS: A randomized, open, double-period and crossover trial was conducted, 48 healthy volunteers were administered a single dose of cinacalcet test tablets or reference tablets orally under each fasting and fed condition. The concentration of cinacalcet was determined by validated LC-MS/MS method. Pharmacokinetic parameters were calculated by Phoenix WinNonlin 8.0 to study its bioequivalence. RESULTS: The main pharmacokinetic parameters of test tablets and reference tablets under fasting condition were as follows: C

12.
Chinese Journal of Medical Genetics ; (6): 1367-1372, 2023.
Article in Chinese | WPRIM | ID: wpr-1009305

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree featuring congenital profound syndromic deafness and chronic constipation, and provide prenatal diagnosis for a high-risk fetus.@*METHODS@#Whole-exome sequencing was carried out to analyze the sequences of genes associated with hereditary deafness, and multiplex ligation-dependent probe amplification (MLPA) was used to verify the candidate variant in the proband's parents and the fetus.@*RESULTS@#The proband was found to have harbored a heterozygous deletion of SOX10, a pathogenic gene associated with Waardenburg syndrome type 4C (WS4C). The same deletion was found in her mother (with profound syndromic deafness and chronic constipation) and the fetus, but not in her father with normal hearing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the SOX10 gene deletion was predicted to be a pathogenic variant (PVS1+PM2_Supporting+PP1+PP4).@*CONCLUSION@#The pedigree was diagnosed with WS4C, which has conformed to an autosomal dominant inheritance. Deletion of the entire SOX10 gene, as a loss-of-function variant, probably underlay its pathogenesis. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.


Subject(s)
Humans , Female , Pregnancy , Pedigree , Waardenburg Syndrome/genetics , East Asian People , Genetic Testing , Prenatal Diagnosis , Hearing Loss, Sensorineural/genetics , Deafness/genetics , Mothers , Constipation/genetics , Mutation , SOXE Transcription Factors/genetics
13.
Chinese Journal of Medical Genetics ; (6): 1128-1133, 2023.
Article in Chinese | WPRIM | ID: wpr-1009263

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with Branchio-Oto syndrome (BOS).@*METHODS@#A pedigree with BOS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples of the proband and her parents were collected. Whole exome sequencing (WES) was carried out for the proband. Multiplex ligation-dependent probe amplification (MLPA) was used to verify the result of WES, short tandem repeat (STR) analysis was used to verify the relationship between the proband and her parents, and the pathogenicity of the candidate variant was analyzed.@*RESULTS@#The proband, a 6-year-old girl, had manifested severe congenital deafness, along with inner ear malformation and bilateral branchial fistulae. WES revealed that she has harbored a heterozygous deletion of 2 466 kb at chromosome 8q13.3, which encompassed the EYA1 gene. MLPA confirmed that all of the 18 exons of the EYA1 gene were lost, and neither of her parents has carried the same deletion variant. STR analysis supported that both of her parents are biological parents. Based on the guidelines from the American College of Medical Genetics and Genomics, the deletion was classified as pathogenic (PVS1+PS2+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous deletion of EYA1 gene probably underlay the pathogenicity of BOS in the proband, which has provided a basis for the clinical diagnosis.


Subject(s)
Humans , Female , Pregnancy , Child , Pedigree , Family , Parents , Chromosomes, Human, Pair 3 , Exons , Nuclear Proteins/genetics , Protein Tyrosine Phosphatases , Intracellular Signaling Peptides and Proteins/genetics
14.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 241-253, 2023.
Article in Chinese | WPRIM | ID: wpr-973767

ABSTRACT

Dyslipidemia is a common metabolic disease caused by abnormal lipoprotein metabolism in human body. According to pathogenesis, it is divided into primary dyslipidemia and secondary dyslipidemia. The former is caused by genetic defects, and the latter is caused by diseases, drugs, unhealthy diets, and lifestyle. The clinical manifestations are xanthoma, arteriosclerosis, and other symptoms of coronary heart disease and peripheral vascular disease. Dyslipidemia can cause a variety of diseases, such as cardiovascular disease, diabetes, and cancer, seriously threatening people's quality of life and life safety, so the research on drugs against dyslipidemia is more urgent. In spite of manifest efficacy, chemical antilipemic agents such as lovastatin are accompanied by some adverse reactions, and there is recurrence after drug withdrawal. Compared with chemical drugs, Chinese medicine has the advantages of multi-pathway, multi-target, multi-level regulation of dyslipidemia, with few side effects. Modern medical research has shown that Chinese medicine can affect lipid synthesis, decomposition, and absorption and improve liver lipid and bile acid metabolism by regulating the peroxisome proliferator-activated receptor (PPAR) signaling pathway, AMP-activated protein kinase (AMPK) signaling pathway, cyclic adenosine monophosphate (cAMP) signaling pathway, adipocytokine signaling pathway, farnesoid X receptor (FXR)/small heterodimer partner (SHP) signaling pathway, phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway, etc., thereby exerting a role in lowering lipid. Therefore, this paper summarized the mechanism of effective components in Chinese medicine in lowering blood lipid to provide new ideas and a theoretical basis for the prevention and treatment of lipid metabolic diseases by Chinese medicine in clinical practice.

15.
Chinese Journal of Medical Genetics ; (6): 47-52, 2023.
Article in Chinese | WPRIM | ID: wpr-970876

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic features of a child with autosomal dominant mental retardation type 40 (MRD40) due to variant of the CHAMP1 gene.@*METHODS@#Clinical characteristics of the child were analyzed. Genetic testing was carried out by low-depth high-throughput and whole genome copy number variant sequencing (CNV-seq) and whole exome sequencing (WES). A literature review was also carried out for the clinical phenotype and genetic characteristics of patients with MRD40 due to CHAMP1 gene variants.@*RESULTS@#The child, a 11-month-old girl, has presented with intellectual and motor developmental delay. CNV-seq revealed no definite pathogenic variants. WES has detected the presence of a heterozygous c.1908C>G (p.Y636*) variant in the CHAMP1 gene, which was carried by neither parent and predicted to be pathogenic. Literature review has identified 33 additional children from 12 previous reports. All children had presented with developmental delay and mental retardation, and most had dystonia (94.1%), delayed speech and/or walking (85.2%, 82.4%) and ocular abnormalities (79.4%). In total 26 variants of the CHAMP1 gene were detected, with all nonsense variants being of loss-of-function type, located in exon 3, and de novo in origin.@*CONCLUSION@#The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.


Subject(s)
Humans , Intellectual Disability/genetics , Genetic Testing , Phenotype , Exome Sequencing , Heterozygote , Mutation , Chromosomal Proteins, Non-Histone/genetics , Phosphoproteins/genetics
16.
Chinese Journal of Medical Genetics ; (6): 1-6, 2023.
Article in Chinese | WPRIM | ID: wpr-970867

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of three children with KBG syndrome.@*METHODS@#Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.@*RESULTS@#All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.@*CONCLUSION@#The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.


Subject(s)
Female , Child , Humans , Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Bone Diseases, Developmental/genetics , Tooth Abnormalities/genetics , Facies , Repressor Proteins/genetics , Mothers , Mutation
17.
Chinese Journal of Biotechnology ; (12): 603-613, 2023.
Article in Chinese | WPRIM | ID: wpr-970394

ABSTRACT

ACC oxidase (ACO) is one of the key enzymes that catalyze the synthesis of ethylene. Ethylene is involved in salt stress response in plants, and salt stress seriously affects the yield of peanut. In this study, AhACO genes were cloned and their functions were investigated with the aim to explore the biological function of AhACOs in salt stress response, and to provide genetic resources for the breeding of salt-tolerant varieties of peanut. AhACO1 and AhACO2 were amplified from the cDNA of salt-tolerant peanut mutant M29, respectively, and cloned into the plant expression vector pCAMBIA super1300. The recombinant plasmid was transformed into Huayu22 by pollen tube injection mediated by Agrobacterium tumefaciens. After harvest, the small slice cotyledon was separated from the kernel, and the positive seeds were screened by PCR. The expression of AhACO genes was analyzed by qRT-PCR, and the ethylene release was detected by capillary column gas chromatography. Transgenic seeds were sowed and then irrigated with NaCl solution, and the phenotypic changes of 21-day-seedings were recorded. The results showed that the growth of transgenic plants were better than that of the control group Huayu 22 upon salt stress, and the relative content of chlorophyll SPAD value and net photosynthetic rate (Pn) of transgenic peanuts were higher than those of the control group. In addition, the ethylene production of AhACO1 and AhACO2 transgenic plants were 2.79 and 1.87 times higher than that of control peanut, respectively. These results showed that AhACO1 and AhACO2 could significantly improve the salt stress tolerance of transgenic peanut.


Subject(s)
Salt Tolerance/genetics , Arachis/genetics , Plant Breeding , Ethylenes/metabolism , Plants, Genetically Modified/genetics , Gene Expression Regulation, Plant , Plant Proteins/genetics
18.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 395-401, 2022.
Article in Chinese | WPRIM | ID: wpr-933988

ABSTRACT

Objective:To observe any effect of supplementing treadmill training with applications of the traditional Chinese Songchi ointment in the rehabilitation of gastrocnemius muscles atrophied through disuse.Methods:Forty-five Wistar rats were randomly divided into a normal control group ( n=8) and a model group ( n=37). The rats in the model group had their left hind limbs immobilized by the Nagai method to induce disused muscle atrophy (DMA). That group was then randomly subdivided into a model control (MC) group, a treadmill training group (the EX group), a Songchi ointment group (SC group) and a comprehensive rehabilitation group (the CR group), each of 8. The EX and SC groups were given treadmill training at 18m/min or topical application of Songchi ointment once a day, 6 days a week for 6 weeks. The CR group was given both treatments. After the 6 weeks, hematoxylin and eosin staining was used to evaluate the pathological changes in the gastrocnemius of each rat′s left hind limb. Serum levels of tumor necrosis factor α (TNF-α), interleukin-1β (IL-1β) and interleukin-10 (IL-10) were detected using enzyme-linked immunosorbent assays. PI3K, Akt and mTOR mRNA and protein were assayed using real-time quantitative PCR and western blotting. Results:The arrangement of muscle fibers in the MC group was disordered and there was a large number of infiltrated inflammatory cells. Such conditions were significantly relieved in the CR group. After the intervention the levels of inflammatory factors TNF-α and IL-1β in the CR group were, on average, significantly lower than those observed in the MC group, the EX group or the SC group, while the level of anti-inflammatory factor IL-10 was significantly higher. The average PI3K, Akt and mTOR mRNA and protein levels of group CR were significantly higher than those of the MC and EX groups.Conclusions:The traditional Chinese Songchi ointment can usefully supplement treadmill training to relieve DMA. It upregulates IL-10, activates the PI3K Akt/mTOR signaling pathway and promotes the synthesis of muscle fiber protein while down-regulating TNF-α and IL-1β and muscle fiber inflammatory response.

19.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 257-260, 2022.
Article in Chinese | WPRIM | ID: wpr-933974

ABSTRACT

Objective:To investigate the pelvic floor muscle functioning of persons with pelvic floor dysfunction (PFD) at different ages in order to provide a reference for clinical treatment.Methods:A total of 580 PFD patients were divided into group A ( n=163, ≤29 years old), Group B ( n=161, 30-39), Group C ( n=114, 40-49), Group D ( n=128, 50-59) and Group E ( n=14, ≥60 years old). All were given a surface electromyography (sEMG) examination of their pelvic floor muscles. Average sEMG amplitude and its variability were recorded in the pre-resting and post-resting stages. The maximum sEMG amplitude and its rise time and recovery time during rapid contraction of pelvic floor muscles were recorded. Average sEMG amplitude and variability were also recorded during slow muscle contraction. The observations were correlated with the age. Results:Significant differences among the 5 groups were found in all of the measurements. Spearman correlation analysis showed that age was positively correlated with the variation in the sEMG amplitudes in the pre-resting stage, with the rise time and with the recovery time. Age also correlated with the maximum sEMG amplitude in the rapid stage, the variation of the EMG amplitude in the slow-muscle stage, and the EMG amplitude in the post-resting stage. But it was negatively correlated with the average sEMG amplitude during pelvic floor contraction.Conclusions:The stability and coordination of the pelvic floor muscles gradually deteriorates with age. The rate of activation and recovery become slower, with prolonged recruitment, slower response and poor excitability.

20.
Chinese Journal of Geriatrics ; (12): 1150-1156, 2022.
Article in Chinese | WPRIM | ID: wpr-957355

ABSTRACT

Objective:To analyze the cognitive dysfunction and its influencing factors in patients with multisystem atrophy(MSA).Methods:A total of 143 hospitalized patients with MSA in our hospital from January 2015 to January 2020 were selected as the research objects.The cognitive function was evaluated by Mini-Mental State Examination(MMSE)and Montreal Cognitive Assessment(MoCA)scales, meanwhile, the influencing factors of cognitive function were analyzed.Results:The average score of MMSE scale of 143 MSA patients ranged from 9 to 30 points, and the MMSE test identified 86 patients(60.1%)with cognitive impairment, including 58 cases(40.6%)with mild cognitive impairment, 27 cases(18.9%)with moderate cognitive impairment and 1 case(0.7%)with severe cognitive impairment.The average score of MoCA scale of 143 MSA patients ranged from 5 to 30 points, among which 111 cases(77.6%)had cognitive impairment, including 69 cases with mild cognitive impairment(48.3%), 35 cases with moderate cognitive impairment(24.5%)and 7 cases with severe cognitive impairment(4.9%). Both the total scores of MMSE and MoCA scores of MSA patients were not correlated with age of onset, old age, gender, disease duration, type of MSA(MSA-C), orthostatic hypotension(OH), urinary retention, positivity of anal sphincter electromyography(ASEMG), triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol(HDL-C), low density lipoprotein cholesterol(LDL-C), fasting blood glucose and glycosylated hemoglobin, serum uric acid and residual urine volume(all P>0.05). Logistic regression analysis showed that fasting blood glucose was a risk factor for cognitive impairment identified by MMSE( OR=2.224, 95% CI: 1.108-4.462, P=0.024); MSA-C( OR=3.905, 95% CI: 1.302-11.713, P=0.015)and TG( OR=3.494, 95% CI: 1.061-11.501, P=0.040)were risk factors for cognitive impairment identified by MoCA.There were no significant differences in above clinical characteristics between moderate to severe cognitive impairment patients and mild cognitive impairment patients identified by MMSE scale( P>0.05). Similarly, there were no significant differences in the above clinical characteristics between moderate to severe cognitive impairment patients and mild cognitive impairment patients by MoCA scale( P>0.05). Logistic regression analysis showed that TG was a risk factor for moderate to severe cognitive impairment identified by MMSE( OR=17.624, 95% CI: 2.596-119.669, P=0.003), while TC was a protective factor( OR=0.006, 95% CI: 0.000-0.714, P=0.036). Logistic regression analysis did not find the influencing factors of moderate to severe cognitive impairment as suggested by MoCA score. Conclusions:There is a high incidence of cognitive impairment in MSA patients.The type of MSA(MSA-C), blood glucose and blood lipid may be influence factors of cognitive impairment in MSA patients.Age of onset, old age, gender, disease duration, autonomic dysfunction, and uric acid have no significant correlation with cognitive impairment of MSA.

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