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1.
Journal of China Pharmaceutical University ; (6): 180-187, 2023.
Article in Chinese | WPRIM | ID: wpr-973003

ABSTRACT

@#In order to mask the bitterness of azithromycin (AZI) and individually regulate the drug release rate to reduce gastrointestinal irritation, immediate-release AZI-AmberliteTM IRP64/HPC and delayed-release AZI-AmberliteTM IRP69/RS100 were prepared by modifying with hydroxypropyl cellulose (HPC) and Eudragit RS100, respectively, and further combined to achieve controlled release.The drug loading and drug utilization rate of AZI-ion exchange resin complexes were measured; the structure of AZI-ion exchange resin complexes was characterized by differential scanning calorimetry and X-ray diffraction; and the wetting humidity, odor masking effects, in vitro dissolution and release behaviors were determined.The results showed that the formation of AZI-ion exchange resin complexes changed the original crystallization state of the drug, that the 2.5% HPC-modified AZI-AmberliteTM IRP64/HPC and the 0.5% RS100-modified AZI-AmberliteTM IRP69/RS100 demonstrated good taste masking effect, and that their combination in the drug content ratio of 13∶67 achieved the expected drug release behavior, i.e.rapid release of AZI in the first 10 min and smooth release in the later 6 h.These results indicated that the AZI-ion exchange resin complexes prepared by surface modification and their composites could mask the bitterness of AZI and realize the flexible adjustment of drug release rate, which lays the foundation for the research and development of new AZI preparations.

2.
Chinese Journal of Infectious Diseases ; (12): 70-76, 2023.
Article in Chinese | WPRIM | ID: wpr-992518

ABSTRACT

Objective:To analyze the clinical epidemiological characteristics and the prognostic risk factors of patients with hemorrhagic fever with renal syndrome (HFRS).Methods:A total of 2 245 HFRS patients who were admitted to the Second Affiliated Hospital of Air Force Medical University from September 2008 to December 2021 were enrolled. Clinical epidemiological data (including gender, age, onset season, onset region, case fatality rate, et al) of HFRS patients were analyzed. The clinical epidemiological characteristics of patients with HFRS in the 2008 to 2012, 2013 to 2017, and 2018 to 2021 groups were compared. Statistical comparisons were performed using chi-square test. The Bonferroni adjusted P-value method was used for pairwise comparisons between groups, and logistic regression analysis was used to screen and evaluate the risk factors associated with the prognosis of HFRS patients. Results:The age of 2 245 HFRS patients was (42.3±15.9) years old. Most of them were male (79.24%(1 779/2 245)), and the main incidence area was Xi′an City (69.53%(1 561/2 245)). There were 132 deaths with an overall case fatality rate of 5.88%. There were 1 088 patients (48.46%) from 2008 to 2012, 647 patients (28.82%) from 2013 to 2017, and 510 patients (22.72%) from 2018 to 2021, with a mortality rate of 7.17%(78/1 088), 5.10%(33/647) and 4.12%(21/510), respectively. From 2008 to 2021, both the number of HFRS cases and the case fatality rate had shown a fluctuating downward trend. There were significant differences in case fatality rate, age distribution, onset season, and onset region among patients in the different year groups ( χ2=6.84, 49.22, 83.47 and 19.29, respectively, all P<0.05). The results of pairwise comparisons showed that the proportion of patients aged >60 years in the 2018 to 2021 group (23.33%(119/510)) was higher than those in the 2008 to 2012 group (12.13%(132/1 088)) and the 2013 to 2017 group (12.36%(80/647)), and the differences were statistically significant (both P<0.05). The proportions of patients at large peak (October to December) were 62.35%(318/510) in the 2018 to 2021 group and 56.26%(364/647) in the 2013 to 2017 group, which were both lower than that in the 2008 to 2012 group (75.18%(818/1 088)), and the differences were both statistically significant (both P<0.05). The case fatality rate of patients aged >60 years was 9.67%(32/331), which was higher than those of patients aged <30 years (2.86%(16/559)) and patients aged 30 to 60 years (6.20%(84/1 355)), with statistically significant differences (both P<0.05). Univariate analysis showed that age 30 to 60 years, age >60 years, smoking, complicated with hypertension, hypotensive shock and hypoxemia were significantly correlated with the prognosis of HFRS patients (odds ratio ( OR)=2.243, 3.632, 1.484, 3.532, 79.422 and 143.955, respectively, all P<0.05). The results of multivariate logistic regression analysis indicated that complicated with hypertension ( OR=2.467, P=0.004), hypotensive shock ( OR=11.658, P=0.001), and hypoxemia ( OR=67.767, P<0.001) were the independent risk factors affecting the prognosis of HFRS patients. Conclusions:The prevalence of HFRS has shown new changing characteristics from 2008 to 2021. The numbers of HFRS patients and the case fatality rates show a downward trend, and the proportion of HFRS patients aged >60 years increases. Complicated with hypertension, hypotensive shock and development with hypoxemia are the independent risk factors for the prognosis of HFRS.

3.
Chinese Journal of Radiation Oncology ; (6): 728-734, 2021.
Article in Chinese | WPRIM | ID: wpr-910458

ABSTRACT

Objective:To investigate the effect of hydroxyurea (HU) combined with temozolomide (TMZ) and radiotherapy (RT) on the sensitivity of human glioma U251 cells to chemoradiotherapy (CRT).Methods:Human glioma U251 cell line was cultured in vitro. CCK8 cell assay was used to detect the proliferation activity of U251 cells treated with different concentrations of HU/TMZ under different conditions. Flow cytometry was utilized to detect apoptosis rate and cell cycle distribution of U251 cells. Transwell chamber assay and scratch test were performed to evaluate the changes of cell invasion and migration. The expression levels of apoptosis proteins were determined by Western blot. Colony formation assay was adopted to detect the cell survival fraction . Results:HU concentration at 50μmol/L and below did not affect the proliferation of human glioma U251 cells ( P>0.05). Low-dose HU combined with CRT significantly inhibited cell proliferation ( P<0.05), invasion ( P<0.01) and migration (12h P<0.001, 24h P<0.01), and promoted cell apoptosis ( P<0.01) compared with the use of CRT alone. Application of 50μmol/L HU combined with RT increased the radiosensitivity of cells (SER=1.49), significantly prolonged the cell cycle of S phase and G 2 phase (both P<0.05), considerably up-regulated the expression levels of the apoptosis-associated proteins of Caspase-3 and Bax and significantly down-regulated the expression level of anti-apoptosis protein of Bcl-2(all P<0.001). Conclusions:Compared with CRT, HU combined with CRT can further inhibit the proliferation, invasion and migration of human glioma U251 cells, promote cell apoptosis, increase the radiosensitivity and prolong the cell cycle of S and G 2 phases, thereby enhancing the sensitivity of human glioma U251 cells to CRT.

4.
Chinese Journal of Ultrasonography ; (12): 201-206, 2021.
Article in Chinese | WPRIM | ID: wpr-884308

ABSTRACT

Objective:To analyze the diagnostic value of thickness ratio between noncompacted and compacted myocardium (NC/C ratio) measured by echocardiography at end-systole and end-diastole comparatively in left ventricular noncompaction (LVNC).Methods:Thirty-five patients with suspected LVNC were collected and underwent conventional (2DE) and left ventricular opacification (LVO) in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from June 2019 to June 2020. The distribution and detection rate of two-layered segments, non-compaction (NC) segments and their NC/C ratios were comparatively analyzed at end-diastole and end-systole using 2DE, LVO and combined techniques respectively. With the diagnostic criteria of end-diastolic NC/C ratio>2.3 or end-systolic NC/C ratio>2.0, echocardiographic results were also recorded and compared with cMRI results.Results:Compared with 2DE, the number of detected segments was increased ( P<0.001), but the numbers of two-layered segments and NC segments were not significantly improved in end-systole using 2DE combined with LVO ( P>0.006). The diagnostic accuracy was not statistically significant ( P>0.05). However, when observing in end-diastole, the detected numbers of 3 kinds of segments were significantly increased using 2DE+ LVO in comparison with 2DE (all P<0.001), and the diagnostic accuracy was also significantly improved ( P<0.05). There were no significant differences in the detected rates of two-layered and NC semgents between 2DE+ LVO and cMRI ( P>0.006). 2DE+ LVO in end-diastole resulted in the highest diagnostic sensitivity (88.9%) and accuracy (85.7%), and also the largest area under ROC curve (0.95). Conclusions:The combination of 2DE and LVO can detect more NC segments, and diagnostic accuracy of end-diastolic NC/C ratio is higher than that in end-systolic in patients with LVNC.

5.
Chinese Journal of Ultrasonography ; (12): 553-558, 2020.
Article in Chinese | WPRIM | ID: wpr-868047

ABSTRACT

Objective:To investigate the application of post-mortem tissue sampling under ultrasonography guidance in the autopsy of COVID-19 cases.Methods:Ultrasound-guided post-mortem tissue sampling of heart, lungs, liver, kidneys, and spleen were performed in 24 confirmed COVID-19 cases in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from Feb 20 to Mar 28, 2020. Seventeen males and seven females aged 39-91(66.6±10.6) years old were enrolled. The total time required for each post-mortem sampling was recorded, and the size of the samples collected from each organ was measured. The success rate of ultrasound-guided post-mortem tissue sampling for each organ was calculated.Results:Ultrasound images could clearly show the needle path and enabled accurate placement of the needle within the target organs, including heart, lung, liver, kidney, and spleen. The total time required for sampling was about 32-54 (39.8±5.7)min. The lengths of heart, lung, liver, kidney, and spleen tissues collected by ultrasound-guided sampling were 10(8, 14)mm, 13(12, 15)mm, 14(13, 15)mm, 13(11, 15)mm, 14(13, 15)mm, respectively. The success rates of heart, lung, liver, kidney, and spleen tissue sampling under ultrasound guidance were 87.5% (21/24), 91.7%(44/48), 100%(24/24), 89.6%(43/48) and 83.3%(20/24), respectively.Conclusions:Post-mortem sampling under ultrasonography guidance may be a rapid and reliable method for collecting of heart, lung, liver, kidney, and spleen tissues in the autopsy of COVID-19 cases.

6.
Chinese Journal of Anesthesiology ; (12): 462-465, 2020.
Article in Chinese | WPRIM | ID: wpr-869863

ABSTRACT

Objective:To evaluate the efficacy of acupuncture-drug balanced anesthesia in improving the outcomes following radical correction of tetralogy of Fallot (TOF) under cardiopulmonary bypass (CPB) in the pediatric patients.Methods:A total of 100 pediatric patients, aged 3-8 yr, weighing 9-24 kg, with American Society of Anesthesiologists physical status Ⅱ or Ⅲ, scheduled for elective radical correction of TOF with CPB, were divided into 2 groups ( n=50 each) using a random number table method: acupuncture-drug balanced anesthesia group (group ADBA) and conventional anesthesia group (group CA). In group ADBA, transcutaneous acupoint electrical stimulation (disperse-dense wave, frequency 2/100 Hz, current intensity 6 mA, pulse width 0.2-0.6 ms) of Baihui (GV20) and bilateral acupoints of Neiguan (PC6), Hegu (LI4), and Ximen (PC4) acupoints was performed after induction of general anesthesia and maintained until the end of surgery.In group CA, the children received combined intravenous-inhalational anesthesia, and electrodes were only applied on the same acupoints without electrical stimulation.Venous blood samples were collected for blood routine examination and for determination of the concentrations of interleukin-6 (IL-6), IL-8 and tumor necrosis factor-alpha(TNF-α) at 30 min before surgery (T 1), 30 min after the start of surgery (T 2) and 1 h and 1, 2, 3 and 5 days after surgery (T 3-7). The length of hospital stay and development of postoperative major adverse events were recorded. Results:Compared with group CA, the plasma concentrations of IL-6, IL-8 and TNF-α at T 2-7 and white blood cell count, neutrophil count and neutrophil percentage at T 4-7 were significantly decreased, postoperative length of hospital stay was shortened ( P<0.05), and the incidence of acute lung injury was decreased obviously in group ADBA ( P<0.05). Conclusion:Acupuncture-drug balanced anesthesia can improve the outcomes following radical correction of TOF under CPB to a certain extent, and the mechanism is related to inhibiting inflammatory responses in pediatric patients.

7.
Chinese Journal of Anesthesiology ; (12): 915-919, 2019.
Article in Chinese | WPRIM | ID: wpr-805807

ABSTRACT

Objective@#To evaluate the effect of dexmedetomidine on pyroptosis during lung ischemia-reperfusion (I/R) in rats.@*Methods@#Adult male Sprague-Dawley rats, weighing 250-320 g, were used in this study.The model of isolated lung perfusion was established using an IL-2 Isolated Perfused Rat or Guinea Pig Lung System after the rats were anesthetized.Thirty lungs in which an ex vivo lung perfusion model was successfully established were divided into 3 groups (n=10 each) by a random number table method: control group (C group), I/R group and dexmedetomidine group (DEX group). The lungs were continuously perfused with K-H solution for 150 min in C group.After 15 min of perfusion, lungs were subjected to 60-min suspension of ventilation and perfusion, followed by 75 min of reperfusion and ventilation to establish the model of lung I/R injury in I/R and DEX groups.In DEX group, dexmedetomidine 10 nmol/L was added to K-H solution at the beginning of reperfusion.Lung tissues were obtained for determination of wet/dry weight ratio (W/D ratio) and for examination of pathological changes (with a light microscope) and ultrastructure (using an electron microscope), and the alveolar damage rate (IAR) was calculated.The expression of pyroptosis-related factors including NOD-like receptor family protein 3 (NLRP3), caspase-1, interleukin-1β (IL-1β), IL-18 and gasdermin D (GSDMD) protein and mRNA was detected by Western blot or by real-time polymerase chain reaction.@*Results@#Compared with C group, the W/D ratio and IAR in lung tissues were significantly increased, and the expression of NLRP3, caspase-1, IL-1β, IL-18 and GSDMD protein and mRNA was up-regulated in I/R and DEX groups (P<0.05). Compared with I/R group, the W/D ratio and IAR in lung tissues were significantly decreased, the expression of NLRP3, caspase-1, IL-1β, IL-18 and GSDMD protein and mRNA was down-regulated (P<0.05), and the pathological changes were significantly attenuated in DEX group.@*Conclusion@#The mechanism by which dexmedetomidine reduces isolated rat lung I/R injury may be related to inhibiting pyroptosis.

8.
Chinese Journal of Microbiology and Immunology ; (12): 937-950, 2019.
Article in Chinese | WPRIM | ID: wpr-800140

ABSTRACT

Herpes simplex virus type 1 (HSV-1) commonly causes orolabial ulcers. However, HSV-1 has become an increasing cause of genital infection in recent years and found to have close relationship associated with Alzheimer′s disease. HSV infection is one of the most common sexually transmitted diseases. It has been received renewed attention in recent years, due to improvements in the understanding of the epidemiological synergy between HSV and other severe diseases, including HIV, sexually transmitted infections, and even neurocognitive impairment. In the context of global renewed attention and responses to HSV infection, we summarize the epidemic of HSV infection at home and abroad in this review, to provide an overview of the data available on HSV infections situation, trends and responses.

9.
Chinese Journal of Medical Genetics ; (6): 1206-1209, 2019.
Article in Chinese | WPRIM | ID: wpr-799978

ABSTRACT

Objective@#To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS).@*Methods@#Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing.@*Results@#The proband was found to carry compound heterozygous variants c. 494T>C (p.Met165Thr) and c. 848A>G (p.His283Arg) of the CANT1 gene, among which c. 494T>C (p.Met165Thr) was inherited from her father and reported to be pathogenic by HGMD. c. 848A>G (p.His283Arg) was inherited from her mother and was predicted to be likely pathogenic according to the ACMG 2015 guidelines.@*Conclusion@#The compound heterozygous variants of c. 494T>C (p.Met165Thr) and c. 848A>G (p.His283Arg) of the CANT1 gene probably underlie the disease in the proband.

10.
Chinese Journal of Microbiology and Immunology ; (12): 937-950, 2019.
Article in Chinese | WPRIM | ID: wpr-824813

ABSTRACT

Herpes simplex virus type 1 ( HSV-1 ) commonly causes orolabial ulcers. However, HSV-1 has become an increasing cause of genital infection in recent years and found to have close relation-ship associated with Alzheimer′s disease. HSV infection is one of the most common sexually transmitted dis-eases. It has been received renewed attention in recent years, due to improvements in the understanding of the epidemiological synergy between HSV and other severe diseases, including HIV, sexually transmitted in-fections, and even neurocognitive impairment. In the context of global renewed attention and responses to HSV infection, we summarize the epidemic of HSV infection at home and abroad in this review, to provide an overview of the data available on HSV infections situation, trends and responses.

11.
Chinese Journal of Anesthesiology ; (12): 915-919, 2019.
Article in Chinese | WPRIM | ID: wpr-824617

ABSTRACT

Objective To evaluate the effect of dexmedetomidine on pyroptosis during lung ischemia-reperfusion (I/R) in rats.Methods Adult male Sprague-Dawley rats,weighing 250-320 g,were used in this study.The model of isolated lung perfusion was established using an IL-2 Isolated Perfused Rat or Guinea Pig Lung System after the rats were anesthetized.Thirty lungs in which an ex vivo lung perfusion model was successfully established were divided into 3 groups (n=10 each) by a random number table method:control group (C group),I/R group and dexmedetomidine group (DEX group).The lungs were continuously perfused with K-H solution for 150 min in C group.After 15 min of perfusion,lungs were subjected to 60-min suspension of ventilation and perfusion,followed by 75 min of reperfusion and ventilation to establish the model of lung I/R injury in I/R and DEX groups.In DEX group,dexmedetomidine 10 nmol/L was added to K-H solution at the beginning of reperfusion.Lung tissues were obtained for determina-tion of wet/dry weight ratio (W/D ratio) and for examination of pathological changes (with a light microscope) and ultrastructure (using an electron microscope),and the alveolar damage rate (IAR) was calculated.The expression of pyroptosis-related factors including NOD-like receptor family protein 3 (NLRP3),caspase-1,interleukin-1β (IL-1β),IL-18 and gasdermin D (GSDMD) protein and mRNA was detected by Western blot or by real-time polymerase chain reaction.Results Compared with C group,the W/D ratio and IAR in lung tissues were significantly increased,and the expression of NLRP3,caspase-1,IL-1β,IL-18 and GSDMD protein and mRNA was up-regulated in I/R and DEX groups (P<0.05).Compared with I/R group,the W/D ratio and IAR in lung tissues were significantly decreased,the expression of NLRP3,caspase-1,IL-1β,IL-18 and GSDMD protein and mRNA was down-regulated (P<0.05),and the pathological changes were significantly attenuated in DEX group.Conclusion The mechanism by which dexmedetomidine reduces isolated rat lung I/R injury may be related to inhibiting pyroptosis.

12.
Chinese Journal of Medical Genetics ; (6): 1206-1209, 2019.
Article in Chinese | WPRIM | ID: wpr-781315

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS).@*METHODS@#Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene, among which c.494T>C (p.Met165Thr) was inherited from her father and reported to be pathogenic by HGMD. c.848A>G (p.His283Arg) was inherited from her mother and was predicted to be likely pathogenic according to the ACMG 2015 guidelines.@*CONCLUSION@#The compound heterozygous variants of c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene probably underlie the disease in the proband.


Subject(s)
Child , Female , Humans , Craniofacial Abnormalities , Genetics , Dwarfism , Genetics , High-Throughput Nucleotide Sequencing , Joint Instability , Genetics , Mutation , Nucleotidases , Genetics , Ossification, Heterotopic , Genetics , Polydactyly , Genetics
13.
Journal of Chinese Physician ; (12): 344-346, 2019.
Article in Chinese | WPRIM | ID: wpr-744873

ABSTRACT

Objective To investigate the echocardiographic features of cardiac valve myxoma in combination with cases and literature.Methods Retrospectively analyzed one case of tricuspid valve myxoma which was diagnosed and treated in our hospital.The clinical manifestations,pathophysiological changes and echocardiographic features of cardiac valvular myxoma were summarized in combination with literature.Results The valvular myxoma is extremely rare.Its clinical manifestations are obstruction,embolism and systemic manifestations.Because of its attachment to the valve,it mainly causes valve opening and closing function,resulting in stenosis or insufficiency of the valve orifice,and then causes corresponding hemodynamic changes.Echocardiographic manifestations are isoecho or slightly strong echo mass with pedicle attached to the valve,and its activity increases with the opening and closing of the valve.Conclusions The valvular myxoma is extremely rare.Echocardiography is the preferred imaging evaluation method for the timely and effective diagnosis of valvular myxoma.Combination of transesophageal echocardiography can better help to evaluate the disease.

14.
Chinese Journal of Anesthesiology ; (12): 314-318, 2019.
Article in Chinese | WPRIM | ID: wpr-755548

ABSTRACT

Objective To evaluate the effect of sevoflurane on unfolded protein response-related cell apoptosis during acute lung injury in rats undergoing cardiopulmonary bypass ( CPB) . Methods For-ty-eight clean-grade healthy adult male Sprague-Dawley rats, aged 6-8 weeks, weighing 250-300 g, were allocated into 3 groups ( n=16 each) using a random number table method: sham operation group ( Sham group) , CPB group and sevoflurane group ( Sev group) . Left common carotid artery and right internal jugu-lar vein were only cannulated in group Sham. After establishing CPB, the flow rate was gradually adjusted to the maximum (100 ml·kg-1·min-1) and maintained for 60 min in group CPB. Two percent sevoflurane was inhaled for 30 min, and 15 min later the model of CPB was established in Sev group. Rats were sacri-ficed at 1 h after the end of CPB, lungs were removed and lung tissues were obtained. The pathological changes and ultrastructure of lung tissues were examined with a light microscope and with an electron micro-scope, respectively. The wet to dry weight ratio ( W∕D ratio) , apoptosis in lung cells ( by TUNEL assay) , expression of glucose-regulated protein 78 ( GRP78) , CCAAT∕enhancer-binding protein homologous protein (CHOP), c-Jun N-terminal kinase (JNK) and caspase-12 mRNA was determined by real-time polymerase chain reaction. The expression of GRP78, CHOP, phosphorylated JNK (p-JNK) and caspase-12 was de-tected by Western blot. The index of quantitative assessment of histologic lung injury ( IQA) was measured, and apoptotic index ( AI) was calculated. Results Compared with Sham group, the W∕D ratio, IQA and AI were significantly increased, the expression of GRP78, CHOP, JNK and caspase-12 was up-regulated ( P<0. 05) , and the pathological changes of lung tissues were accentuated in CPB group. Compared with CPB group, the W∕D ratio, IQA and AI were significantly decreased, the expression of GRP78, CHOP, JNK and caspase-12 was down-regulated ( P<0. 05) , and the pathological changes of lung tissues were sig-nificantly attenuated in Sev group. Conclusion The mechanism by which sevoflurane mitigates acute lung injury induced by CPB is related to inhibiting unfolded protein response related cell apoptosis in lung tissues of rats.

15.
Chinese Journal of Neurology ; (12): 961-965, 2018.
Article in Chinese | WPRIM | ID: wpr-711059

ABSTRACT

Objective To discuss clinical characteristics of a family with Xia-Gibbs syndrome, test and analyze the mutation of their pathogenic gene, and to explore the clinical and genetic characteristics of Xia-Gibbs syndrome. Methods A patient with unexplained developmental retardation was clinically examined and the medical history of his family was collected. Genetic detection was performed to analyze his genetic causes. Results The proband, who was two-year and 1-month old, displayed unusual facies, hypotonia and unexplained developmental retardation. Brain MRI showed leukodystrophy. Other members of his family had no similar medical history. And the proband was found to carry the de novo mutation of c.1073dupC in AHDC1 gene. Conclusion This is the first case with Xia-Gibbs syndrome caused by AHDC1 mutation in China, which has a great significance in studying the correlation between genotype and phenotype.

16.
Chinese Journal of Medical Genetics ; (6): 257-260, 2018.
Article in Chinese | WPRIM | ID: wpr-687965

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.</p><p><b>METHODS</b>Clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software.</p><p><b>RESULTS</b>The child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother.</p><p><b>CONCLUSION</b>The c.455T>C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.</p>


Subject(s)
Child, Preschool , Humans , Male , High-Throughput Nucleotide Sequencing , Methods , Mental Retardation, X-Linked , Genetics , Mutation , Receptors, AMPA , Genetics
17.
Frontiers of Medicine ; (4): 58-75, 2018.
Article in English | WPRIM | ID: wpr-772722

ABSTRACT

With the increasing number of immunocompromised hosts, the epidemiological characteristics of fungal infections have undergone enormous changes worldwide, including in China. In this paper, we reviewed the existing data on mycosis across China to summarize available epidemiological profiles. We found that the general incidence of superficial fungal infections in China has been stable, but the incidence of tinea capitis has decreased and the transmission route has changed. By contrast, the overall incidence of invasive fungal infections has continued to rise. The occurrence of candidemia caused by Candida species other than C. albicans and including some uncommon Candida species has increased recently in China. Infections caused by Aspergillus have also propagated in recent years, particularly with the emergence of azole-resistant Aspergillus fumigatus. An increasing trend of cryptococcosis has been noted in China, with Cryptococcus neoformans var. grubii ST 5 genotype isolates as the predominant pathogen. Retrospective studies have suggested that the epidemiological characteristics of Pneumocystis pneumonia in China may be similar to those in other developing countries. Endemic fungal infections, such as sporotrichosis in Northeastern China, must arouse research, diagnostic, and treatment vigilance. Currently, the epidemiological data on mycosis in China are variable and fragmentary. Thus, a nationwide epidemiological research on fungal infections in China is an important need for improving the country's health.


Subject(s)
Animals , Humans , China , Epidemiology , Fungi , Genetics , Virulence , Genotype , Incidence , Mycoses , Epidemiology
18.
Chinese Journal of Ultrasonography ; (12): 743-747, 2017.
Article in Chinese | WPRIM | ID: wpr-667144

ABSTRACT

Objective To assess the morphological changes of tricuspid annulus in patients with functional tricuspid regurgitation(FTR)by real-time three-dimensional echocardiography.Methods Seventy-five FTR patients were divided into 4 groups according to the tricuspid regurgitation and transverse diameter of tricuspid annulus,which were group A(regurgitation more than moderate and dilated transverse diameter,n=21),group B(regurgitation less than moderate and dilated transverse diameter,n =18), group C(regurgitation more than moderate and normal transverse diameter,n = 1 9),group D (regurgitation less than moderate and normal transverse diameter,n =17).And 21 healthy controls were chosen to be group E.The 3D parameters including annular anterior-posterior diameter(AP),annular left-right diameter(SM),sphericity index(SI),non-planar angle(NPA),anterior annular length(Ant Ann), posterior annular length(Post Ann),annular circumference(Ann)and annular area(Area)were analyzed. Results SM,AP,Post Ann,Ann and Area of group A and B were larger than those in group E,whereas SI and Ant Ann only larger in group A(P<0.05).There were positive correlations between SM,AP,Post Ann,Ann,Area and the degree of regurgitation in group A(P <0.05).The patients of group C showed larger SM,Ant Ann,Post Ann,Ann and Area compared with patients in group E(P <0.05).There were no significant difference in all 3D parameters between group D and E(P >0.05).Conclusions FTR patients with regurgitation more than moderate or dilated transverse diameter are accompanied with changes of 3D annular parameters. The real-time three-dimensional echocardiography is helpful to judge morphological changes of tricuspid annulus in patients with FTR.

19.
Chinese Journal of Anesthesiology ; (12): 1291-1295, 2017.
Article in Chinese | WPRIM | ID: wpr-709622

ABSTRACT

Objective To evaluate the effect of ulinastatin on endoplasmic reticulum stress in car-diomyocytes of patients undergoing beating heart mitral valve replacement(MVR). Methods A total of 80 patients of both sexes with rheumatic heart disease complicated with mitral valve stenosis, aged 38-59 yr, weighing 43-73 kg, with American Society of Anesthesiology physical statusⅡorⅢ, scheduled for elective MVR, were divided into ulinastatin group(UTI group, n=40)and normal saline group(NS group, n=40) using a random number table. Immediately after opening the right atrium(T0), at 30 min of cardiopulmonary bypass(T1)and while suturing the right atrium(T2), blood samples from the radial artery were collected to determine the concentrations of plasma creatine kinase-MB and cardiac troponin T by enzyme-linked immu-nosorbent assay, and the right auricle specimens were collected for determination of the expression of glucose-regulated protein 78, CCAAT∕enhancer-binding protein homologous protein, c-Jun amino-terminal kinase (JNK)protein and mRNA(by real-time polymerase chain reaction or Western blot)and phosphorylated JNK (p-JNK)expression(by Western blot). The apoptosis in cardiomyocytes was detected by TUNEL at T0,2, and the apoptosis rate was calculated. Results Compared with group NS, the concentrations of plasma crea-tine kinase-MB and cardiac troponin T at T1,2and the apoptosis rate of cardiomyocytes were significantly de-creased at T2, and the expression of glucose-regulated protein 78, CCAAT∕enhancer-binding protein homolo-gous protein and JNK protein and mRNA and p-JNK was down-regulated at T1,2in group UTI(P<0.05). Conclusion The mechanism by which ulinastatin reduces myocardial damage is related to inhibiting endo-plasmic reticulum stress in cardiomyocytes of patients undergoing beating heart MVR.

20.
Chinese Journal of Medical Genetics ; (6): 30-34, 2017.
Article in Chinese | WPRIM | ID: wpr-345331

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family.</p><p><b>METHODS</b>Routine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families.</p><p><b>RESULTS</b>Chromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46,XN,der(22)t(3;22)(q28;q13)pat, while his father and 5 other relatives carried a same karyotype of 46,XN,t(3;22)(q28;q13). His mother and other family members were normal. CMA analysis confirmed that the patient had a 9.0 Mb duplication at 3q28q29, in addition with a 1.7 Mb deletion at 22q13.3. Above results were confirmed by FISH.</p><p><b>CONCLUSION</b>The abnormal phenotypes of the proband and his family members from five generations have conformed to those of 3q duplication and 22q13.3 deletion caused by unbalanced translocation involving chromosomes 3q and 22q. The presence of multiple patients in this family may be attributed to abnormal gametes produced by parental balanced translocations involving 3q and 22q.</p>


Subject(s)
Female , Humans , Infant , Male , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 22 , Genetics , Chromosomes, Human, Pair 3 , Genetics , Cytogenetic Analysis , Methods , Family Health , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Pedigree , Translocation, Genetic
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