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1.
Chinese Journal of Medical Genetics ; (6): 413-418, 2023.
Article in Chinese | WPRIM | ID: wpr-981763

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.@*METHODS@#A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents.@*RESULTS@#WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software.@*CONCLUSION@#Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.


Subject(s)
Female , Humans , Child , Exome Sequencing , Mitochondrial Diseases/genetics , Mothers , Mutation , Phenotype
2.
Chinese Medical Journal ; (24): 1047-1056, 2023.
Article in English | WPRIM | ID: wpr-980911

ABSTRACT

BACKGROUND@#Screening using low-dose computed tomography (LDCT) is a more effective approach and has the potential to detect lung cancer more accurately. We aimed to conduct a meta-analysis to estimate the accuracy of population-based screening studies primarily assessing baseline LDCT screening for lung cancer.@*METHODS@#MEDLINE, Excerpta Medica Database, and Web of Science were searched for articles published up to April 10, 2022. According to the inclusion and exclusion criteria, the data of true positives, false-positives, false negatives, and true negatives in the screening test were extracted. Quality Assessment of Diagnostic Accuracy Studies-2 was used to evaluate the quality of the literature. A bivariate random effects model was used to estimate pooled sensitivity and specificity. The area under the curve (AUC) was calculated by using hierarchical summary receiver-operating characteristics analysis. Heterogeneity between studies was measured using the Higgins I2 statistic, and publication bias was evaluated using a Deeks' funnel plot and linear regression test.@*RESULTS@#A total of 49 studies with 157,762 individuals were identified for the final qualitative synthesis; most of them were from Europe and America (38 studies), ten were from Asia, and one was from Oceania. The recruitment period was 1992 to 2018, and most of the subjects were 40 to 75 years old. The analysis showed that the AUC of lung cancer screening by LDCT was 0.98 (95% CI: 0.96-0.99), and the overall sensitivity and specificity were 0.97 (95% CI: 0.94-0.98) and 0.87 (95% CI: 0.82-0.91), respectively. The funnel plot and test results showed that there was no significant publication bias among the included studies.@*CONCLUSIONS@#Baseline LDCT has high sensitivity and specificity as a screening technique for lung cancer. However, long-term follow-up of the whole study population (including those with a negative baseline screening result) should be performed to enhance the accuracy of LDCT screening.


Subject(s)
Humans , Adult , Middle Aged , Aged , Lung Neoplasms/diagnostic imaging , Early Detection of Cancer , Sensitivity and Specificity , Mass Screening , Tomography, X-Ray Computed
3.
Chinese Medical Journal ; (24): 1037-1046, 2023.
Article in English | WPRIM | ID: wpr-980885

ABSTRACT

With the accelerated aging society in China, the incidence of biliary surgical diseases in the elderly has increased significantly. The clinical characteristics of these patients indicate that improving treatment outcomes and realizing healthy aging are worthy of attention. How to effectively improve the treatment effect of geriatric biliary surgical diseases has attracted widespread attention. This paper reviews and comments on the hotspots and difficulties of biliary surgery in older patients from six aspects: (1) higher morbidity associated with an aging society, (2) prevention and control of pre-operative risks, (3) extending the indications of laparoscopic surgery, (4) urgent standardization of minimally invasive surgery, (5) precise technological progress in hepatobiliary surgery, and (6) guarantee of peri-operative safety. It is of great significance to fully understand the focus of controversy, actively make use of its favorable factors, and effectively avoid its unfavorable factors, for further improving the therapeutic effects of geriatric biliary surgical diseases, and thus benefits the vast older patients with biliary surgical diseases. Accordingly, a historical record with the highest age of 93 years for laparoscopic transcystic common bile duct exploration has been created by us recently.


Subject(s)
Humans , Aged , Aged, 80 and over , Biliary Tract Surgical Procedures , Gallstones , Laparoscopy , Treatment Outcome , Aging , Retrospective Studies
4.
Chinese Journal of Endocrinology and Metabolism ; (12): 149-155, 2023.
Article in Chinese | WPRIM | ID: wpr-994309

ABSTRACT

Objective:To investigate correlation between neutrophil extracellular traps(NETs) formation and T cell subsets in mice with experimental autoimmune thyroiditis(EAT) and the impact of active vitamin D intervention.Methods:Six-week-old female BALB/c mice were randomly divided into Control group, EAT group and 1, 25 dihydroxy vitamin D 3[1, 25(OH) 2D 3] treatment group(VitD group; n=6/group). HE staining was used to observe thyroid pathology. Plasma thyroglobulin antibody(TGAb), thyroid peroxidase antibody(TPOAb), and 1, 25(OH) 2D 3 were measured by ELISA. Peripheral NETs formation, Th1, Th2, and Th17 cell ratio from spleen were measured by flow cytometry. Correlation between NETs formation rate and Th1, Th2, and Th17 cell ratio was analyzed. Results:Compared with Control group, mice in EAT group had significantly increased thyroid inflammation scores, thyroiditis morbidity, TPOAb, TGAb levels, NETs formation rate, Th2(CD4 + IL-4 + or CD4 + IL-13 + )and Th17 cell proportions( P were <0.001, 0.002, 0.007, <0.001, <0.001, 0.003, 0.001, and 0.002, respectively), and significant decreased 1, 25(OH) 2D 3, Th1 cell proportions, Th1/Th2(CD4 + IL-4 + ), Th1/Th2(CD4 + IL-13 + ), and Th1/Th17 ratios( P were 0.010, 0.018, 0.010, 0.005, and 0.007, respectively). Compared with the EAT group, the VitD group had lower thyroid inflammation scores, TPOAb, TGAb levels, NETs formation rate, Th2(CD4 + IL-4 + or CD4 + IL-13 + ) and Th17 cell proportions( P were 0.044, 0.007, <0.001, 0.001, 0.014, 0.008, and 0.001, respectively), and significant higher Th1 cell ratio, Th1/Th2(CD4 + IL-13 + ) and Th1/Th17 ratio( P were 0.011, 0.009, and 0.003, respectively). The Th1/Th2(CD4 + IL-4 + ) was not significantly increased in VitD group compared with EAT group( P=0.174). NETs formation rate was positively correlated with Th2(CD4 + IL-4 + or CD4 + IL-13 + ) and Th17 cell proportion( r were 0.65, 0.59, and 0.61; and P were 0.004, 0.010, and 0.007, respectively), but not with Th1 cell proportion( r=-0.47, P=0.051). Conclusion:EAT mice were more prone to NETs formation. Active vitamin D may relieve immune imbalance with increased Th2 and Th17 cell ratio and decreased Th1 cell ratio by reducing the formation of NETs in EAT mice. Vitamin D played the protective role in thyroid by reducing thyroid pathological damage and thyroid autoantibody levels, and relived overall lymphocyte imbalance.

5.
Chinese Journal of Radiological Health ; (6): 23-26, 2022.
Article in Chinese | WPRIM | ID: wpr-973572

ABSTRACT

Objective To test and evaluate the protection and quality control status of some radiodiagnostic equipment in Gansu Province, China, and to strengthen the quality control and protection of radiodiagnostic equipment in hospitals. Methods A total of 72 medical institutions involving 203 sets of radiodiagnostic equipment and workplaces were selected to carry out the quality control and protection test according to relevant national standards. Results The qualified rate for the quality control test of the 203 sets of radiodiagnostic equipment was 92.1%, and that of the workplaces was 100%. Conclusion The results basically reflect the quality control and protection status of radiodiagnostic equipment in Gansu Province, indicating that regular inspection and timely debugging is very important.

6.
Chinese Journal of School Health ; (12): 382-385, 2022.
Article in Chinese | WPRIM | ID: wpr-923110

ABSTRACT

Objective@#To evaluate the effect of sexuality education for parents of preschoolers, to provide a basis for sexuality educational programs in rural settings.@*Methods@#This community intervention trial chose four kindergartens in Jiangyang District of Luzhou City as the intervention group and other four kindergartens in Jiangyou City of Mianyang City of Sichuan Province as the control group. Sexuality education for parents was carried out in the intervention group, and the control group received routine arrangement. The baseline survey was conducted from March to May 2019, and the final survey was conducted in December 2019. The investigators conducted a face to face or self filled questionnaires among each parent who agreed to participate in the survey by using the self designed questionnaire "Research on Current Situation and Countermeasures of Early Childhood Sexuality Education in Rural Areas (Parent)".@*Results@#Before the intervention, there was no significant difference in the basic information of parents and their children, and the situation of early childhood sexuality education between the intervention group and the control group( P > 0.05 ). After intervention, parents of the intervention group and the control group showed differences in correct rate of the knowledge regarding early childhood sexuality education (41.5%,32.1%), proportion of recognition of parental responsibility (90.7%, 81.3 %), sexuality education in the family (55.7%,45.9%), sexuality education in schools (70.2%,39.1%) and attitude behavior consistency (28.9%,16.3%) ( χ 2=4.05,8.05,4.17,42.48,9.59, P <0.05).@*Conclusion@#Sexuality education towards parents is effective through improving knowledge, responsibility, the implementation of sexuality education in the family, and attitude behavior consistency among parents.

7.
China Pharmacy ; (12): 758-763, 2022.
Article in Chinese | WPRIM | ID: wpr-923015

ABSTRACT

The re gulators of renin-angiotensin system (RAS) include renin inhibitors ,angiotensin converting enzyme inhibitors,angiotensin Ⅱ receptor blockers ,angiotensin Ⅱ receptor agonists and angiotensin 1-7. This paper summarizes and analyzes the adjuvant effects of RAS regulators on antitumor drugs by searching the literature published from January 1992 to June 2021. The regulators of RAS can reduce the cardiotoxicity ,hematological toxicity and peripheral neurotoxicity of antitumor drugs , and has renal protective effect ;the regulators of RAS combined with other chemotherapy drugs show favorable effects on promoting chemotherapeutic drugs delivery ,improving anti-angiogenesis and bypass activation of targeted drugs ,enhancing tumor immune response of immune checkpoint inhibitors ,so as to improve therapeutic efficacy of antitumor drugs. The combination of RAS regulators with antitumor drugs is expected to reduce the side effects of antitumor drugs ,enhance its efficacy and improve the prognosis of patients.

8.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 1634-1638, 2022.
Article in Chinese | WPRIM | ID: wpr-955891

ABSTRACT

Objective:To investigate the efficacy of compound Lactobacillus acidophilus tablets combined with bismuth-containing quadruple therapy in the treatment of Helicobacter pylori-positive (Hp +) chronic non-atrophic gastritis and its effect on Lactobacillus and Escherichia coli.Methods:A total of 104 patients with Hp + chronic non-atrophic gastritis who received treatment in Affiliated Hospital of Shaoxing University from March 2019 to September 2020 were included in this study. They were randomly divided into control and observation groups, with 52 patients in each group. The control group was treated with bismuth-containing quadruple therapy. The observation group was treated with compound Lactobacillus acidophilus tablets (2 tablets once, three times per day) based on bismuth-containing quadruple therapy. Two groups were treated for 2 successive weeks. The endoscopic grading score of gastric mucosa, improvement in pathological grading of gastric mucosa, Hp eradication rate, and Lactobacillus and Escherichia coli levels were compared between the two groups. Results:After treatment, endoscopic grading score of gastric mucosa (gastric mucosa inflammation, inflammation activity, atrophy, and intestinal metaplasia) in the observation group was (1.31 ± 0.18) points, (1.24 ± 0.18) points, (1.15 ± 0.16) points, (1.04 ± 0.15) points, respectively, which was superior to (1.73 ± 0.25) points, (1.59 ± 0.21) points, (1.44 ± 0.19) points, (1.30 ± 0.18) points in the control group ( t = 3.67, 3.80, 4.17, 4.52, all P < 0.01). Improvement in pathological grading of gastric mucosa in the observation group was significantly higher than that in the control group [94.23% (49/52) vs. 78.85% (41/52), χ2 = 4.04, P < 0.05]. Hp eradication rate in the observation group was significantly higher than that in the control group [92.31% (48/52) vs. 75.00% (39/52), χ2 = 4.50, P < 0.05]. After treatment, the amount of Lactobacillus and Escherichia coli in the observation group were (8.30 ± 0.95) copies and (8.04 ± 0.95) copies, which were significantly greater than (7.51 ± 0.93) copies and (8.30 ± 0.95) copies in the control group ( t = 4.02, 3.75, both P < 0.01). Conclusion:Compound Lactobacillus acidophilus tablets combined with bismuth-containing quadruple therapy is highly effective on Hp + chronic non-atrophic gastritis and it can effectively improve intestinal microflora.

9.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1498-1501, 2022.
Article in Chinese | WPRIM | ID: wpr-954780

ABSTRACT

The clinical characteristics and gene variations of a family with mitochondrial myopathy and ataxia caused by MSTO1 gene mutation who visited Xiangya Hospital of Central South University in October 2019 were retrospectively analyzed.The proband was an 11-year-old female, who was found to have delayed motor and language development and dysarthria at the age of 1 year and 6 months.The 9-year-old younger brother of the proband had similar symptoms at the age of 1 year and 3 months.Both the proband and her younger brother had muscle weakness and ataxia.Their head magnetic resonance imaging showed cerebellar atrophy, and their electromyography showed neuroge-nic changes.Genetic testing revealed compound heterozygous mutations in MSTO1: c.1259delG; p.G420VfsX2 and c.571 C > T; p.R191X, which were inherited from their parents, respectively.The same site mutations were found in the younger brother.After 2 weeks of " cocktail therapy" , the symptoms of the children were alleviated, and their language and movement improved.

10.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 278-285, 2022.
Article in Chinese | WPRIM | ID: wpr-1011583

ABSTRACT

【Objective】 To explore and verify the mechanism of curcumin’s inhibition of the proliferation of renal clear cell carcinoma (RCCC) based on network pharmacology and bioinformatics. 【Methods】 We screened common target genes of RCCC and curcumin from PharmMapper and GeneCards databases. We used TCGA database data analysis to screen out common target genes which not only differentially expressed between RCCC tissue samples and normal tissue samples but also affected prognosis. We also used STRING platform to construct curcumin-RCCC targets interaction network, used R software to perform GO biological process analysis and KEGG pathway enrichment analysis based on the above-mentioned screening target proteins. After curcumin and/or active oxygen inhibitor N-acetyl-L-cysteine (NAC) were incubated in renal cancer 786-O and ACHN cells, CCK8 was used to detect the effects of different concentrations of curcumin on cell proliferation and cell viability. Reactive oxygen detection kit (DCFH-DA) was used to detect the level of intracellular reactive oxygen species, and malondialdehyde (MDA) determination kit (TBA method) to detect intracellular malondialdehyde changes. 【Results】 PharmMapper website and GeneCards database screened out 109 common targets of curcumin and RCCC. TCGA database data analysis screened out 37 differentially expressed genes (DEGs) that might affect the overall survival of patients. The core target proteins of curcumin screened out by protein-protein interaction (PPI) that inhibited the biological behavior of RCCC mainly involved CASP3, EGFR, CHEK1, HSP90AA1, and AR. GO enrichment analysis identified 213 items, mainly including reactive oxygen species metabolic process, response to steroid hormones, fibrinolysis and other biologically active processes. KEGG enrichment analysis identified 24 items, which were mainly related to pyruvate metabolism, glycolysis/gluconeogenesis, FoxO signaling pathway, colorectal cancer, tyrosine metabolism, IL-17 signaling pathway, apoptosis and other signaling pathways. Curcumin reduced the cell viability of 786-O and ACHN in a time- and dose-dependent manner (P<0.05). After curcumin was incubated with kidney cancer cells, the level of reactive oxygen species and MDA increased significantly (P<0.05). The addition of NAC reversed the effect of curcumin on the cell viability of 786-O and ACHN cells (P<0.05). 【Conclusion】 Curcumin may participate in the oxidative stress pathway to inhibit the proliferation of renal cell carcinoma.

11.
Chinese Journal of Preventive Medicine ; (12): E021-E021, 2020.
Article in Chinese | WPRIM | ID: wpr-811708

ABSTRACT

Since December 2019, corona virus disease 2019 (COVID-19) , an emerging infection disease occurred in Wuhan, has spread in the mainland China. The epidemic factors on the basis of knowledge of SARS-CoV-2 were discussed in this paper. This puts a lot of pressure on clinical resources and care. SARS-CoV-2 is a novel corona virus, the onset of COVID-19 is slow, and the pathogenesis of SARS-CoV-2 remains unclear and may lead to multiple organ damage. These put a lot of pressure on clinical resources and care. Source of infection including the patients, asymptomatic carrier and patients in the incubation period are contagious. It is difficult to control source of infection. Routes of SARS-CoV-2 transmission are diversified and the main routes of transmission for COVID-19 are droplet transmission and close contact transmission. All population have susceptibility to SARS-CoV-2. Social factors such population movements and aggregation accelerated the spread of SARS-CoV-2. The Chinese government’s adopted measures are positive and effective, and are accepted by the expert group from the World Health Organization. However, it will be a long-term hard work in the future to seriously summarize and think deeply to achieve public health security in China.

12.
China Pharmacy ; (12): 2736-2740, 2020.
Article in Chinese | WPRIM | ID: wpr-829975

ABSTRACT

OBJECTIVE:To evaluate the effects of nicorand il on the proliferation ,migration ability and Hippo/YAP signaling pathway of pulmonary artery smooth muscle cells (PASMCs). METHODS :Human primary PASMCs were divided into normal control group ,model group ,nicorandil low ,medium and high concentration groups (50,100,200 μmol/L),with 3 holes in each group. In addition to the normal control group ,the rest of the cells were inoculated on the gel coated medium to simulate the pulmonary hypertension environment ,so as to establish AS cell model. Then ,each drug group was added with corresponding drugs,and the normal control group and model group were added with the same volume of normal saline ,and cultured for 48 h. CCK-8 assay and Transwell assay were used for the examination of cell proliferation (by light density )and migration ability , respectively. mRNA expression of YAP target factors (CTGF and AREG )were examined by qRT-PCR. Western blotting assay was used to detect the protein expression of CTGF and AREG. RESULTS :Compared with normal control group ,light density of cells was increased significantly in model group ;the number of migration cells per field of view increased significantly ;mRNA and protein expression of CTGF and AREG were significantly increased (P<0.01). Compared with model group ,light density ,the number of migration cells per field of view ,mRNA and protein expression of CTGF and AREG in nicorandil low ,medium and high concentration groups were decreased significantly , in concentration-dependent manner (P<0.05 or P<0.01). CONCLUSIONS:Nicorandil can inhibit the proliferation and migration of PASMCs in AS model ,the mechanism of which cstc2019jscx-msxmX0174) may be associated with the Hippo/YAP signaling pathway.

13.
Chinese Journal of Preventive Medicine ; (12): E021-E021, 2020.
Article in Chinese | WPRIM | ID: wpr-924311

ABSTRACT

Since December 2019, corona virus disease 2019 (COVID-19) , an emerging infection disease occurred in Wuhan, has spread in the mainland China. The epidemic factors on the basis of knowledge of SARS-CoV-2 were discussed in this paper. This puts a lot of pressure on clinical resources and care. SARS-CoV-2 is a novel corona virus, the onset of COVID-19 is slow, and the pathogenesis of SARS-CoV-2 remains unclear and may lead to multiple organ damage. These put a lot of pressure on clinical resources and care. Source of infection including the patients, asymptomatic carrier and patients in the incubation period are contagious. It is difficult to control source of infection. Routes of SARS-CoV-2 transmission are diversified and the main routes of transmission for COVID-19 are droplet transmission and close contact transmission. All population have susceptibility to SARS-CoV-2. Social factors such population movements and aggregation accelerated the spread of SARS-CoV-2. The Chinese government’s adopted measures are positive and effective, and are accepted by the expert group from the World Health Organization. However, it will be a long-term hard work in the future to seriously summarize and think deeply to achieve public health security in China.

14.
Chinese Journal of Epidemiology ; (12): 623-628, 2020.
Article in Chinese | WPRIM | ID: wpr-821109

ABSTRACT

Since December 2019, Corona Virus Disease (COVID-19), a new emerging infection disease occurred in Wuhan, has spread in 27 countries and regions. The clusters of many cases were reported with the epidemic progresses. We collected currently available information for 377 COVID-19 clusters (1 719 cases), excluded the hospital clusters and Hubei cases, during the period from January 1, 2020 to February 20, 2020. There were 297 family clusters (79%), case median 4; 39 clusters of dining (10%), case median 5; 23 clusters of shopping malls or supermarkets (6%), case median 13; 12 clusters of work units (3%), case median 6, and 6 clusters of transportation. We selected 325 cases to estimate the incubation period and found its range is 1 to 20 days, median was 7 days, and mode was 4 days. The analysis of the epidemic situation in a department store in China indicates that there is a possibility of patients as the source of infection during the incubation period of the epidemic. From February 5, 2020 to February 21, 2020, 634 persons were infected in the Diamond Princess Liner. All persons are susceptible to SARS-CoV-2. The older, patients during the incubation period and the worse environment may be the cause of the cases rising. The progress of the two typical outbreaks clearly demonstrates the spread of the early cases in Wuhan. Whatever happens, screening and isolating close contacts remains essential except for clinical treatment during the epidemic. Especially for the healthy people in the epidemic area, isolation is the key.

15.
Chinese Journal of Clinical Oncology ; (24): 750-754, 2019.
Article in Chinese | WPRIM | ID: wpr-791212

ABSTRACT

As a first generation Bruton's tyrosine kinase inhibitor, ibrutinib is an oral small molecule targeted drug that has been prov-en to exhibit high efficacy and good safety in the treatment of B-cell lymphomas, including chronic lymphocytic leukemia or small lym-phocytic lymphoma (CLL/SLL) and mantle cell lymphoma (MCL). Since ibrutinib first became available in China, increasing numbers of Chinese patients have benefited from it; however, with the increase in the number of patients, clinicians are faced with more adverse events, such as bleeding, atrial fibrillation, diarrhea, joint pain, among others, than traditional chemotherapeutic drugs. Because of the unique mechanism of action of ibrutinib, it is also necessary to pay attention to drug interactions when dealing with these adverse events. This review comprehensively summarizes the treatment strategies for ibrutinib adverse events in the literature and hopes to provide a reference for clinicians.

16.
Chinese Journal of Pediatrics ; (12): 142-145, 2019.
Article in Chinese | WPRIM | ID: wpr-810425

ABSTRACT

Objective@#To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review.@*Methods@#The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed.@*Results@#The patient was a 15 months old girl with acute onset of bilateral ptosis after upper respiratory tract infection, which was rapidly progressed to systemic myasthenia and accompanied with recurrent respiratory tract infection during the treatment. The patient poorly to responded immunomodulatory therapy and anti-infection therapy. Laboratory tests demonstrated decreased complement C3 and NK cell (CD3-CD56+), increased anti-thyroglobulin, thyroid peroxidase antibody and B lymphocyte (CD3-CD19+), and slightly increased anti-acetylcholine receptor antibody. Genetic analysis showed the homozygous variation of ORAI1 gene exon l c.12 G>T (p.E4D), with heterozygostty of both parents. There were only 4 papers reporting this disease in the literature review. A total of 7 patients with ORAI1 gene variation were reported, including 3 homozygous variations, 2 heterozygous variations and 2 complex heterozygous variations. The clinical manifestations included early onset recurrent infection, congenital hypotonia, elevated serum IgA and IgM, decreased NK cells, and family history of hereditary diseases. Four of the 7 reported cases died of pulmonary infection and sepsis, and the other 3 survived with low muscular tone and poor self-care ability.@*Conclusions@#The most common clinical manifestations of ORAI1 variation caused combined immunodeficiency are recurrent infection and congenital hypotonia. Myasthenia induced recurrent respiratory tract infection is an important factor of poor prognosis in severe patients. There is a lack of effective treatment for this disease, and the prognosis is poor.

17.
Journal of Medical Biomechanics ; (6): E232-E236, 2019.
Article in Chinese | WPRIM | ID: wpr-802447

ABSTRACT

Objective To study the load transfer mechanics between residual limb and prosthetic socket, as well as stress distributions below the residual limb, so as to provide a theoretical basis for designing and optimizing of prosthetic socket and improving the wearing comfort. Methods Aiming at compression-release stabilization (CRS), the finite element software ABAQUS was used to analyze the stress distribution at the interface between the residual limb and CRS socket. The soft tissues were defined using the Mooney-Rivlin function. The interface pressures and shear stresses between the residual limb and CRS socket during mid-stance were obtained. A three-dimensional finite element model of the patellar tendon bearing (PTB) socket was established, and the results were compared. Results The interface pressures between the residual limb and CRS socket were mainly distributed at lateral tibia, media tibia and popliteal depression regions, which were similar to the main force regions of PTB socket. The mean interface pressures on the end of stump for CRS socket was increased by 19 kPa over PTB socket. Conclusions CRS socket had better breathability and reasonable stress distributions. The stress distribution of biomechanical interface was different due to the different shapes of socket. Therefore, the optimization of prosthetic socket can help to improve the wearing comfort of prosthetic limbs.

18.
Journal of Central South University(Medical Sciences) ; (12): 1311-1315, 2019.
Article in Chinese | WPRIM | ID: wpr-813013

ABSTRACT

From November, 2010 to February, 2018, 11 children with variants of Guillain-Barré syndrome (GBS) were treated in Xiangya Hospital of Central South University. Clinical manifestations included cranial nerve involvement in 9 cases, limb weakness in 9 cases, ataxia in 8 cases, abnormal sensation in 7 cases, weakened or disappeared tendon reflex in all cases, albuminocytologic dissociation of cerebrospinal fluid in 6 cases, and neurogenic changes in electromyography in 8 cases. Immune globulin and steroids were given to 5 cases and 1 case, respectively, while the combination of immune globulin with steroids was given to 1 case, and symptomatic treatment was given to 4 cases. All treatments were effective, remaining no apparent side effect for nervous system. The diagnosis of GBS variants was based on clinical manifestation. Patients who had cranial nerve involvement, ataxia and weakened or disappeared tendon reflex should be paid attention. Albuminocytologic dissociation of cerebrospinal fluid and electromyography were helpful to diagnosis. GBS variants were self-limited disease. Immunotherapy can ease the patients' critical condition.


Subject(s)
Child , Humans , Electromyography , Guillain-Barre Syndrome , Immunoglobulins, Intravenous , Immunotherapy
19.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 165-169, 2019.
Article in Chinese | WPRIM | ID: wpr-753082

ABSTRACT

Objective :To analyze and explore influence of hyperuricemia (HUA ) on intracranial atherosclerosis . Methods : A total of 250 patients with non—cardiogenic cerebral infarction treated in our hospital from May 2014 to Jul 2016 were enrolled .Digital subtraction angiogrophy was performed in all patients .According to level of serum uric acid (SUA) ,patients were divided into HUA group (n=84) and normal UA group (n=166).Age ,percentages of hypertension ,coronary heart disease ,diabetes mellitus (DM) , hyperlipodemia ,smoking history and recurrence rate of cerebral infarction were compared between two groups ,and influencing factors of atherosclerotic intracranial artery stenosis were analyzed using single—and multi—factor regression analysis .Results : Compared with normal UA group ,there was significant rise in recurrence rate of ischemic stroke (25.30% vs.45.24%) in HUA group , P=0.001. Single factor analysis indicated that hypertension ,DM and HUA were influencing factors for intracranial ar—tery stenosis , P=0.001 all ;multi—factor regression analysis indicated that hypertension ,DM and HUA were inde—pendent risk factors for atherosclerotic intracranial artery stenosis (OR=0. 960~4.957 , P=0.001 all).Conclusion :Hyperuricemia is an independent risk factor for intracranial atherosclerotic stenosis .Monitor on HUA patients should be enhanced in clinic in order to prevent intracranial atherosclerosis .

20.
Pakistan Journal of Pharmaceutical Sciences. 2018; 31 (6 Special): 2835-2839
in English | IMEMR | ID: emr-205120

ABSTRACT

Present study is conducted to investigate the efficacy and safety of application of low-molecular-weight heparin calcium in the prophylaxis of deep venous thrombosis [DVT] following the laparoscopic surgery for gynecological tumors, so as to provide reference for the selection of anti-coagulant procedure in clinical practice. A total of 180 patients who underwent the laparoscopic surgery for the gynecological tumors in this hospital between January 2015 and December 2017 were enrolled in this study, and according to the anti-coagulant procedure, they were divided into two groups, i.e. the control group and the observation group, with 90 patients in each group. In the control group, 90 patients were free from the anti-coagulant agent or drugs affecting the coagulant functions, while those in the observation group received the subcutaneous injection of low-molecular-weight heparin calcium for consecutive 5 days. Then we compared the serological indicators, prothrombin time [PT], cross-section diameter of the lower limb, hemodynamic indicator and the incidence rate of complications. Following postoperative 5 days, the levels of fibrinogen and D-dimer in the observation group were [2.66 +/- 0.72] g/L and [0.61 +/- 0.17] microg/mL, significantly lower than those in the control group, and the differences had statistical significance [t=4.667, P=0.019; t=3.967, P= 0.029]. At 3 d and 5 d after operation, PTs in the observation group were [13.74 +/- 3.92] s and [13.84 +/- 3.13] s, also superior to the control group [t=3.031, P=0.042; t=3.553, P =0.034]. In the observation group, the cross-section diameter of lower limb and blood flow rate were [20.22 +/- 3.51] cm and [0.93 +/- 0.17] m/s, respectively, which were better than the control group, and the difference had statistical significance [t=4.412, P=0.021; t =4.724, P=0.019]. In the observation group, the incidence rate of complications was only 3.33%, significantly lower than 10.00% in the control group [c2 =6.158, P=0.004]. The application of the low-molecular-weight heparin calcium for anti-coagulation in the prophylaxis of the DVT following the laparoscopic surgery of gynecological tumor can better ameliorate the hemodynamics of patients, and prevent the formation of DVT

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