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1.
International Eye Science ; (12): 1152-1156, 2024.
Article in Chinese | WPRIM | ID: wpr-1032365

ABSTRACT

AIM: To investigate the acute clinical manifestations of cosmetology-related ocular damage(COD).METHODS:Retrospective study. A total of 53 cases(89 eyes)with ocular damage caused by cosmetology from April 2016 to October 2021 were collected. The clinical features were analyzed, including age, gender, affected eye(s), clinical manifestations, injury cause, treatment procedures, and prognosis.RESULTS: All 53 patients were female, aged 22-45 years, with an average age of 28.4±6.7 years. Monocular injuries were observed in 17 patients, and binocular injuries in 36 patients. The same eye could exhibit two or more ocular damage simultaneously. The primary cosmetology procedures causing COD were eyeliner tattooing(38 eyes; 43%), eyelash extensions(18 eyes; 20%), removal of false eyelashes(11 eyes; 12%), mascara application(8 eyes; 9%), double eyelid surgery(6 eyes; 7%), and others(8 eyes; 9%). Major ocular damages included corneal damage(56 eyes; 63%), eyelid contact dermatitis(26 eyes; 29%), conjunctivitis(19 eyes; 21%), reactive eyelid edema(13 eyes; 15%), ocular surface foreign bodies(12 eyes; 14%), bacterial infection of the palpebral margin(10 eyes; 11%), and others(5 eyes; 6%). These 5 eyes included 1 eye(1%)with central retinal artery occlusion caused by periocular injection of hyaluronic acid. The majority of patients(74 eyes)recovered within 1-2 wk with appropriate treatment, while filamentosa keratitis appeared in 3 eyes and the eye with central retinal artery occlusion had poor prognosis.CONCLUSIONS: COD predominantly occurs in young and middle-aged females with cosmetology experience. The most common cosmetology procedure leading to COD is eyeliner tattooing, and corneal damage is the most significant type of COD. COD can be effectively prevented and treated, resulting in a generally favorable prognosis.

2.
Zhonghua laodong weisheng zhiyebing zazhi ; Zhonghua laodong weisheng zhiyebing zazhi;(12): 371-374, 2023.
Article in Chinese | WPRIM | ID: wpr-986016

ABSTRACT

Objective: To establish a inductively coupled plasma mass spectrometry method for the determination of trace cobalt and tungsten in human urine. Methods: The authors used 1% nitric acid solution as diluent in October-December 2021, the sample dilution factor and internal standard element were optimized by single factor rotation experiment, and the difference between the working curve and the standard curve was compared. Results: The method uses working curve to determine cobalt and tungsten in urine, the linear range of this method was 0.0~10.0 μg/L, the correlation coefficient was 0.999 9, the detection limits respectively were 0.005 μg/L (cobalt) and 0.09 μg/L (tungsten), the recoveries of samples respectively were 87.0%~100.2% (cobalt) and 89.4%~104.8% (tungsten), the relative standard deviations respectively were 0.4%~4.4% (cobalt) and 0.6%~3.8% (tungsten) . Conclusion: A simple and rapid method for determination of cobalt and tungsten in urine has been established. This method has the advantages of simple operation, high sensitivity, low detection limit and good stability. It is suitable for determination of cobalt and tungsten in urine of all kinds of people.


Subject(s)
Humans , Cobalt/analysis , Tungsten/analysis , Spectrum Analysis , Nitric Acid , Mass Spectrometry
3.
Chinese Journal of Pediatrics ; (12): 700-707, 2023.
Article in Chinese | WPRIM | ID: wpr-1013158

ABSTRACT

Objective: To compare the application of China growth standard for children under 7 years of age (China standards) and World Health Organization child growth standards (WHO standards) in evaluating the prevalence of malnutrition in children aged 0-<6 years in China. Methods: The research data came from the national special program for science & technology basic resources investigation of China, named "2019-2021 survey and application of China's nutrition and health system for children aged 0-18 years". Multi-stage stratified random sampling was used to recruit 28 districts (regions) in 14 provinces, autonomous regions or municipalities across the country. Children (n=38 848) were physically measured and questionnaires were conducted in the guardians of the children. The indicators of stunting, underweight, wasting, overweight and obesity were evaluated by China standards and WHO standards respectively. Chi-square test was used to comparing the prevalence of each nutritional status between the two standards, as well as the comparison between the two standards by gender and age. Results: Among the 38 848 children, 19 650 were boys (50.6%) and 19 198 were girls (49.4%), 19 480 urban children (50.1%) and 19 368 rural children (49.9%). The stunting, underweight and wasting cases in the study population were 2 090 children (5.4%), 1 354 children (3.5%) and 1 276 children (3.3%) according to the China standards, and 1 474 children (3.8%), 701 children (1.8%) and 824 children (2.1%) according to the WHO standards, respectively; the above rates according to the China standards were slightly higher than those to the WHO standards (χ2=111.59, 213.14, and 99.99, all P<0.001). The overweight and obesity cases in the study population were 2 186 children (5.6%) and 1 153 children (3.0%) according to the China standards, and 2 210 children (5.7%) and 1 186 children (3.1%) according to the WHO standards, with no statistically significant differences (χ2=0.14 and 0.48, P=0.709 and 0.488, respectively). Compared to the results based on WHO standards, the China standards showed a lower prevalence of overweight and obesity in boys (χ2=14.95 and 5.85, P<0.001 and =0.016, respectively), and higher prevalence of overweight in girls (χ2=12.60, P<0.001); but there was no statistically significant differences in girls' obesity prevalence between the two standards (χ2=2.62, P=0.106). Conclusions: In general, the prevalence of malnutrition among children aged 0-<6 years based on China standards is slightly higher than that on WHO standards. To evaluate the nutritional status of children, it is advisable to select appropriate child growth standards based on work requirements, norms or research objectives.


Subject(s)
Male , Female , Child , Humans , Child, Preschool , Nutritional Status , Overweight/epidemiology , Thinness/epidemiology , Obesity/epidemiology , Malnutrition/epidemiology , Growth Disorders/epidemiology , China/epidemiology , Prevalence
4.
Chinese Pharmacological Bulletin ; (12): 1623-1627, 2023.
Article in Chinese | WPRIM | ID: wpr-1013717

ABSTRACT

Drug discrimination is a behavioral pharmacological technique to study the discriminative stimulus effects of drug. Currently drug discrimination has been widely used in preclinical drug development of CNS drugs, the most extensive of which is psychodependent research in the field of drug abuse. This review describes in general the basic principles of drug discrimination, preliminarily elaborates on the relevant characteristics and applications of the subjective effects, time-course effect, stereo specificity, individual differences, and receptor mechanisms, and its development prospects for hallucinogens and cannabis drugs are also presented.

5.
Zhonghua Yu Fang Yi Xue Za Zhi ; (12): 1915-1917, 2023.
Article in Chinese | WPRIM | ID: wpr-1045958

ABSTRACT

Active response to the challenges posed by aging has been established as a national strategy, accompanied by continuous refinement of policies concerning aging work. Decreased digestive system function is commonly present in the natural aging process of older people, which directly affects their food intake, digestion, and absorption, leading to decreased appetite and various forms of malnutrition. It is also a risk factor for age-related diseases such as sarcopenia, osteoporosis, cognitive impairment, and frailty. Nutrition is the foundation for achieving healthy aging. In order to meet the nutritional needs of the elderly population, the Nutrition and Healthy Aging Working Group at the Shanghai Junshi Institute of Life Sciences introduced the concept of "elderly-oriented food" in 2022. In the future, there is an urgent need for comprehensive collaborative efforts to conduct a series of investigations focused on the dietary habits and nutritional requirements of older individuals, in order to evaluate the level of awareness, genuine demands, dietary preferences, and capabilities of selection regarding to the elderly-oriented food. Simultaneously, it is recommended to introduce "Guidelines for the production and application of elderly-oriented food" at the national level to promote the sustainable and orderly development in food industry.


Subject(s)
Humans , Aged , China , Nutritional Status , Aging/physiology , Malnutrition/prevention & control , Diet
6.
Zhonghua Yu Fang Yi Xue Za Zhi ; (12): 1915-1917, 2023.
Article in Chinese | WPRIM | ID: wpr-1046281

ABSTRACT

Active response to the challenges posed by aging has been established as a national strategy, accompanied by continuous refinement of policies concerning aging work. Decreased digestive system function is commonly present in the natural aging process of older people, which directly affects their food intake, digestion, and absorption, leading to decreased appetite and various forms of malnutrition. It is also a risk factor for age-related diseases such as sarcopenia, osteoporosis, cognitive impairment, and frailty. Nutrition is the foundation for achieving healthy aging. In order to meet the nutritional needs of the elderly population, the Nutrition and Healthy Aging Working Group at the Shanghai Junshi Institute of Life Sciences introduced the concept of "elderly-oriented food" in 2022. In the future, there is an urgent need for comprehensive collaborative efforts to conduct a series of investigations focused on the dietary habits and nutritional requirements of older individuals, in order to evaluate the level of awareness, genuine demands, dietary preferences, and capabilities of selection regarding to the elderly-oriented food. Simultaneously, it is recommended to introduce "Guidelines for the production and application of elderly-oriented food" at the national level to promote the sustainable and orderly development in food industry.


Subject(s)
Humans , Aged , China , Nutritional Status , Aging/physiology , Malnutrition/prevention & control , Diet
7.
Asian j. androl ; Asian j. androl;(6): 745-749, 2023.
Article in English | WPRIM | ID: wpr-1009792

ABSTRACT

To compare the impact of the scrotal vs inguinal orchidopexy approach on the testicular function of infants with cryptorchidism, a randomized controlled trial was conducted involving boys who were 6-12 months old at surgery and were diagnosed with clinically palpable, inguinal undescended testis. Between June 2021 and December 2021, these boys at Fujian Maternity and Child Health Hospital (Fuzhou, China) and Fujian Children's Hospital (Fuzhou, China) were enrolled. Block randomization with a 1:1 allocation ratio was employed. The primary outcome was testicular function assessed by testicular volume, serum testosterone, anti-Müllerian hormone (AMH), and inhibin B (InhB) levels. Secondary outcomes included operative time, amount of intraoperative bleeding, and postoperative complications. Among 577 screened patients, 100 (17.3%) were considered eligible and enrolled in the study. Of the 100 children who completed the 1-year follow-up, 50 underwent scrotal orchidopexy and 50 underwent inguinal orchidopexy. The testicular volume, serum testosterone, AMH, and InhB levels in both groups increased markedly after surgery (all P < 0.05), but there were no apparent differences between groups at 6 months and 12 months after operation (all P > 0.05). No differences between the scrotal and inguinal groups were noted regarding the operative time ( P = 0.987) and amount of intraoperative bleeding ( P = 0.746). The overall complication rate (2.0%) of the scrotal group was slightly lower than that of the inguinal group (8.0%), although this difference was not statistically significant ( P > 0.05). Both scrotal and inguinal orchiopexy exerted protective effects on testicular function in children with cryptorchidism, with similar operative status and postoperative complications. Scrotal orchiopexy is an effective alternative to inguinal orchiopexy in children with cryptorchidism.


Subject(s)
Female , Pregnancy , Male , Infant , Humans , Child , Cryptorchidism/surgery , Orchiopexy , Scrotum/surgery , Postoperative Complications , Anti-Mullerian Hormone , Testosterone
8.
Biomed. environ. sci ; Biomed. environ. sci;(12): 305-312, 2023.
Article in English | WPRIM | ID: wpr-981056

ABSTRACT

OBJECTIVE@#This study aimed to examine the trends in stroke mortality among young and middle-aged adults in China.@*METHODS@#Data were obtained from the China national vital registration system. Significant changes in mortality were assessed by Joinpoint regression. Age-period-cohort analysis was used to explain the reasons for the changes. Future mortality and counts were predicted by the Bayesian age-period-cohort model.@*RESULTS@#Between 2002 and 2019, a total of 6,253,951 stroke mortality in young and middle-aged adults were recorded. The age-adjusted mortality rates (AAMRs) of women showed a downward trend. The annual percent changes (APC) were -3.5% (-5.2%, -1.7%) for urban women and -2.8% (-3.7%, -1.9%) for rural women. By contrast, the AAMRs per 100,000 for rural men aged 25-44 years continued to rise from 9.40 to 15.46. The AAMRS for urban men aged 25-44 years and urban and rural men aged 45-64 years did not change significantly. Between 2020 and 2030, the projected stroke deaths are 1,423,584 in men and 401,712 in women.@*CONCLUSION@#Significant sex and age disparities in the trends of stroke mortality among young and middle-aged adults were identified in China. Targeted health policy measures are needed to address the burden of stroke in the young generation, especially for rural men, with a focus on the prevention and management of high risk factors.


Subject(s)
Middle Aged , Male , Adult , Humans , Female , Bayes Theorem , Urban Population , Stroke/epidemiology , Cohort Studies , China/epidemiology , Mortality
9.
Biomed. environ. sci ; Biomed. environ. sci;(12): 569-584, 2023.
Article in English | WPRIM | ID: wpr-981090

ABSTRACT

OBJECTIVE@#This study aimed to assess the relationship between the body composition of children aged 3-5 years and breastfeeding status and duration.@*METHODS@#The study was conducted using data from the National Nutrition and Health Systematic Survey for children 0-17 years of age in China (CNHSC), a nationwide cross-sectional study. Breastfeeding information and potential confounders were collected using standardized questionnaires administered through face-to-face interviews. The body composition of preschool children was measured using bioelectrical impedance analysis. A multivariate linear regression model was used to assess the relationship between breastfeeding duration and body composition after adjusting for potential confounders.@*RESULTS@#In total, 2,008 participants were included in the study. Of these, 89.2% were ever breastfed and the median duration of breastfeeding was 12 months (IQR 7-15 months). Among children aged 3 years, the height-for-age Z-score (HAZ) for the ever breastfed group was lower than that for never breastfed group (0.12 vs. 0.42, P = 0.043). In addition, the weight-for-age Z-score (WAZ) of the ever breastfed group was lower than that of the never breastfed group (0.31 vs. 0.65, P = 0.026), and the WAZ was lower in children aged 4 years who breastfed between 12 and 23 months than in those who never breastfed. Compared to the formula-fed children, the fat-free mass of breastfed infants was higher for children aged 3 years (12.84 kg vs. 12.52 kg, P = 0.015) and lower for those aged 4 years (14.31 kg vs. 14.64 kg, P = 0.048), but no difference was detected for children aged 5 years (16.40 kg vs. 16.42 kg, P = 0.910) after adjusting for potential confounders. No significant difference was detected in the weight-for-height Z-score (WHZ), body mass index (BMI)-for-age Z-score (BAZ), fat-free mass index, and body fat indicators in the ever breastfed and never breastfed groups and among various breastfeeding duration groups for children aged 3-5 years.@*CONCLUSION@#No obvious associations were detected between breastfeeding duration, BMI, and fat mass indicators. Future prospective studies should explore the relationship between breastfeeding status and fat-free mass.


Subject(s)
Infant , Female , Child, Preschool , Humans , Infant, Newborn , Child , Adolescent , Breast Feeding , Prospective Studies , Cross-Sectional Studies , Body Mass Index , Body Composition
10.
Zhongguo Zhong Yao Za Zhi ; (24): 1310-1318, 2023.
Article in Chinese | WPRIM | ID: wpr-970602

ABSTRACT

In this study, the underlying mechanism of Qiwei Guibao Granules(QWGB) in the treatment of premature ovarian fai-lure(POF) was explored by the proteomics technique. Firstly, the POF model was induced in mice by intragastric administration of Tripterygium wilfordii glycosides solution at 50 mg·kg~(-1) for 14 days. Ten days prior to the end of the modeling, the estrous cycle of mice was observed every day to evaluate the success of modeling. From the 1st day after modeling, the POF model mice were treated with QWGB by gavage every day and the treatment lasted four weeks. On the 2nd day after the end of the experiment, blood was collected from the eyeballs and the serum was separated by centrifugation. The ovaries and uterus were collected and the adipose tissues were carefully stripped. The organ indexes of the ovaries and uterus of each group were calculated. The serum estrogen(E_2) level of mice in each group was detected by ELISA. Protein samples were extracted from ovarian tissues of mice, and the differential proteins before and after QWGB intervention and before and after modeling were analyzed by quantitative proteomics using tandem mass tags(TMT). As revealed by the analysis of differential proteins, QWGB could regulate 26 differentially expressed proteins related to the POF model induced by T. wilfordii glycosides, including S100A4, STAR, adrenodoxin oxidoreductase, XAF1, and PBXIP1. GO enrichment results showed that the 26 differential proteins were mainly enriched in biological processes and cellular components. The results of KEGG enrichment showed that those differential proteins were involved in signaling pathways such as completion and coalescence cascades, focal adhesion, arginine biosynthesis, and terpenoid backbone biosynthesis. The complement and coalescence cascades signaling pathway was presumably the target pathway of QWGB in the treatment of POF. In this study, the proteomics technique was used to screen the differential proteins of QWGB in the treatment of POF in mice induced by T. wilfordii glycosides, and they were mainly involved in immune regulation, apoptosis regulation, complement and coagulation cascade reactions, cholesterol metabolism, and steroid hormone production, which may be the main mechanisms of QWGB in the treatment of POF.


Subject(s)
Female , Humans , Mice , Animals , Primary Ovarian Insufficiency/chemically induced , Proteomics , Signal Transduction , Glycosides/adverse effects
11.
Asian j. androl ; Asian j. androl;(6): 78-81, 2023.
Article in English | WPRIM | ID: wpr-970997

ABSTRACT

For many years, surgical treatment of buried penis in children has been researched by several scholars, and numerous methods exist. This study aimed to explore the clinical effect of a modified fixation technique in treating buried penis in children. Clinical data of 94 patients with buried penis who were treated using the modified penile fixation technique from March 2017 to February 2019 in Fujian Maternity and Child Health Hospital (Fuzhou, China) were retrospectively collected, compared, and analyzed. Clinical data of 107 patients with buried penis who were treated using traditional penile fixation technique from February 2014 to February 2017 were chosen for comparison. The results showed that at 6 months and 12 months after surgery, the penile lengths in the modified penile fixation group were longer than those in the traditional penile fixation group (both P < 0.05). The incidence of postoperative skin contracture and penile retraction in the modified penile fixation group was less than that in the traditional penile fixation group (P = 0.034 and P = 0.012, respectively). When the two groups were compared in terms of parents' satisfaction scores, the scores for penile size, penile morphology, and voiding status in the modified penile fixation group were higher than those in the traditional penile fixation group at 2-week, 6-month, and 12-month follow-ups after surgery (all P < 0.05). We concluded that the modified penile fixation technique could effectively reduce the incidence of skin contracture and penile retraction and improve the penile length and satisfaction of patients' parents.


Subject(s)
Female , Pregnancy , Male , Humans , Child , Retrospective Studies , Urologic Surgical Procedures, Male/methods , Penis/surgery , China , Contracture
12.
Zhonghua Yu Fang Yi Xue Za Zhi ; (12): 222-224, 2022.
Article in Chinese | WPRIM | ID: wpr-935273

ABSTRACT

Non-communicable chronic diseases(NCD)have become the main burden of disease in China, which cause great challenges to public health and social development. Unhealthy diet is one of the main risk factors of the occurrence and development of NCD. Based on the latest international understanding of various forms of malnutrition and National Nutrition Survey and Monitoring in China, this paper describes the change trend of low weight, overweight and obesity in different age groups and highlights two classic cases: the diabetes research of Daqing in China and NCD prevention and control project of the North Carolina Project in Finland. The article concludes that dietary nutrition intervention is a cost-effective and sustainable key measure to prevent and control NCD.


Subject(s)
Humans , Diet , Noncommunicable Diseases/prevention & control , Nutritional Status , Obesity/prevention & control , Overweight , Risk Factors
13.
Chinese Journal of Epidemiology ; (12): 496-502, 2022.
Article in Chinese | WPRIM | ID: wpr-935417

ABSTRACT

Objective: To analyze anemia prevalence and its influencing factors of students involved in the Nutritional Improvement Program for Rural Compulsory Education Students in 2019. Methods: From the 2019 surveillance system of the Nutrition Improvement Program for Rural Compulsory Education Students, 47 297 primary and middle school students aged 6-17 were included in the study. Hemoglobin level was tested according to the criteria of WHO 2011. Anemia prevalence of different genders, ages, and regions was analyzed. Results: The average hemoglobin level was 135.19 g/L, with the prevalence of anemia as 8.7% in the children aged 6-17. The prevalence of anemia was 10.0% in girls, higher than that in boys (7.4%). The prevalence rates in western and central areas were 9.8% and 7.1%, respectively. From northwest, southwest, central and south, east, north to northeast areas of China, the anemia rate appeared gradually decreasing (10.2%, 9.7%, 8.3%, 7.5%, 5.7% and 3.5%). The anemia prevalence rates were 8.0%, 8.3%, and 10.9% in children from the 6-, 11-, and 14-17 years age groups, respectively. Logistic regression models revealed that students from schools not using catering software (OR=1.482, 95%CI:1.296-1.694,P<0.001), schools not serving lunch (OR=1.241, 95%CI:1.103-1.395,P<0.001), and from relatively low-income families (OR=1.297, 95%CI:1.211-1.389, P<0.001) showed as risk factors for anemia. After supplementing students' dietary factors, the results showed that students who ate meat three or more times a week had a lower risk of anemia (OR=0.907, 95%CI:0.832-0.989, P=0.026). Conclusions: The Nutritional Improvement Program for Rural Compulsory Education Students had an essential impact on improving the anemia prevalence of primary and middle school students. Family income, school location, economic factors, school feeding, and students' diet programs all impacted the prevalence of anemia.


Subject(s)
Child , Female , Humans , Male , Anemia/epidemiology , China/epidemiology , Hemoglobins , Prevalence , Rural Population , Students
14.
Article in Chinese | WPRIM | ID: wpr-940510

ABSTRACT

Postmenopausal osteoporosis (PMOP) is a systemic disease characterized by increased bone fragility caused by insufficient estrogen secretion in women after menopause,resulting in decreased bone mass and damage to the microstructure of bone tissues. The main clinical manifestations are low back pain,osteoporotic fractures,spinal deformities,and multiple organ dysfunction. PMOP directly leads to high morbidity, high mortality, and a decline in the quality of life. In addition to miss diagnosis, it is often not treated in time. In recent years, significant progress has been made in the research on factors related to the pathogenesis of PMOP. Based on the previous findings in recent years,this article described three major pathogenesis of PMOP, including intestinal flora imbalance,oxidative stress,and abnormal differentiation of bone marrow mesenchymal stem cells (BMMSCs), and analyzed the current status of PMOP treatment, such as syndrome differentiation and treatment,acupuncture and moxibustion,exercise therapy, and external treatment in traditional Chinese medicine (TCM), and basic measures,drug intervention,and physical therapy in western medicine. Among them,drug intervention in western medicine treatment is generally divided into bone resorption inhibitors,bone formation promoters,and other mechanism drugs according to the mechanism of action. This article summarized the specific methods and effects or mechanisms of TCM and western medicine in the clinical treatment of PMOP,which is expected to provide a reference for formulating reasonable health management models and drug treatments in the future.

15.
Neuroscience Bulletin ; (6): 16-28, 2022.
Article in English | WPRIM | ID: wpr-922663

ABSTRACT

Chronic stress leads to many psychiatric disorders, including social and anxiety disorders that are associated with over-activation of neurons in the basolateral amygdala (BLA). However, not all individuals develop psychiatric diseases, many showing considerable resilience against stress exposure. Whether BLA neuronal activity is involved in regulating an individual's vulnerability to stress remains elusive. In this study, using a mouse model of chronic social defeat stress (CSDS), we divided the mice into susceptible and resilient subgroups based on their social interaction behavior. Using in vivo fiber photometry and in vitro patch-clamp recording, we showed that CSDS persistently (after 20 days of recovery from stress) increased BLA neuronal activity in all the mice regardless of their susceptible or resilient nature, although impaired social interaction behavior was only observed in susceptible mice. Increased anxiety-like behavior, on the other hand, was evident in both groups. Notably, the CSDS-induced increase of BLA neuronal activity correlated well with the heightened anxiety-like but not the social avoidance behavior in mice. These findings provide new insight to our understanding of the role of neuronal activity in the amygdala in mediating stress-related psychiatric disorders.


Subject(s)
Animals , Mice , Amygdala , Anxiety/etiology , Anxiety Disorders , Avoidance Learning , Mice, Inbred C57BL , Social Behavior , Stress, Psychological/complications
16.
International Eye Science ; (12): 693-697, 2022.
Article in Chinese | WPRIM | ID: wpr-922995

ABSTRACT

@#AIM: To investigate the pathogenic mutations of the <i>OAT</i> gene in a Chinese family affected with gyrate atrophy of choroid and retina(GA)and describe their clinical manifestations.METHODS: All available family members have underwent detailed ophthalmological examinations. The sequencing results and pathogenic mutations were clarified by whole exome sequencing, bioinformatics analysis and Sanger sequencing.RESULTS: Based on the clinical manifestations and symptoms, the proband was diagnosed with GA. A missense mutation of c.722C>T(p.P241L)in exon 6 and a nonsense mutation of c.1186C>T(p.R396X)in exon 10 were identified in the <i>OAT</i> gene of the proband, which was a compound heterozygotic mutation. This compound heterozygous mutation showed co-segregation in the family. The heterozygous pathogenic variant of p.R396X was detected in both the proband's father and elder brother, and the heterozygous pathogenic variant of p.P241L was detected in proband's mother. Except for the proband, no other family members have abnormal clinical manifestations.CONCLUSION: The proband of this family is a compound heterozygous mutation, in which p.P241L is the first reported gene mutation type. This result expands the range of <i>OAT</i> gene variation and is conducive to further understanding the pathogenic factors of GA at the molecular basis level. The discovery and confirmation of the novel mutation type will also help to provide a new basis for the clinical diagnosis and gene therapy of GA.

17.
Yao Xue Xue Bao ; (12): 2709-2719, 2022.
Article in Chinese | WPRIM | ID: wpr-941514

ABSTRACT

Over the past three decades, more and more antisense drugs have been approved for marketing or clinical trails. Antisense technology has become the focus of pharmaceutical research due to its unique advantages in treating diseases and strong clinical development potential. There is a big difference from traditional small molecule chemical drugs, and macromolecular protein biological drugs. Antisense drugs are a very independent drug form. Antisense drugs were initially used to treat diseases with single gene mutations, but recently they have gradually begun to be used for the treatment of common diseases. Rational antisense drug design is crucial for disease treatment based on genetics. This paper reviews the latest progress in the field of action mechanism, chemical modification and delivery strategy of antisense drugs, and analyzes the current intractable problems. It is believed that with the resolution of these problems, the research of antisense drugs can reach a new level.

18.
Chinese Pharmacological Bulletin ; (12): 880-887, 2022.
Article in Chinese | WPRIM | ID: wpr-1014086

ABSTRACT

Aim To study the effect of NBED on the decorporation of uranium and the protective effect on HK-2 cellular damage.Methods ICR mice were divided into control group, uranium exposure group(0.03 mg), DTPA-CaNa3(300 mg·kg-1)and NBED(300, 150, 75 mg·kg-1)treatment groups.After injection of uranyl acetate, mice were given different doses of decorporation agents immediately.After 24 h the content of uranium in kidney, bone, liver, spleen and muscle was determined by ICP-MS.HK-2 cells were divided into control group, uranium model group(80 μmol·L-1), DTPA-CaNa3(80 μmol·L-1)and NBED(80, 40, 20 μmol·L-1)treatment group interacted with uranium for 48h.CCK-8 method was used to detect the cell survival rate; light microscope was used to observe the cell morphology; ICP-MS method was used to detect the ratio of uranium endocytosis and uranium efflux; biochemical method was employed to determine SOD, GSH and LDH levels; flow cytometry was applied to determine ROS, apoptosis and cell cycle.Results 300 mg·kg-1 NBED reduced the content of uranium in kidney and bone by 44.3% and 18.8% respectively.Compared with model group, NBED reduced uranium entry into cells by 11%42%, increased uranium emission by 18%48%, increased the survival rate of HK-2 cells, thelevels of SOD and GSH, decreased the expression levels of ROS and LDH, and decreased the apoptotic rate and S phase arrest.DTPA-CaNa3 could significantly reduce the content of uranium and the amount of uranium endocytosis in kidney of mice, but the effect of promoting excretion was significantly lower than that of NBED, and it had no protective effect on the acute injury of HK-2 cells caused by uranium.Conclusions NBED is an effective uranium decorporation agent, which is superior to DTPA-CaNa3 approved by FDA.It could reduce the production of ROS and LDH, increase the content of SOD and GSH, and reduce the arrest and apoptosis of S phase, thus protecting HK-2 cells from uranium induced damage.

19.
Acta Anatomica Sinica ; (6): 545-550, 2022.
Article in Chinese | WPRIM | ID: wpr-1015291

ABSTRACT

Objective To investigate the role of ataxia-telangiectasia mutated gene (ATM) in maintaining quiescence of neural stem cells (NSCs) from subgranular zone (SGZ) of hippocampal dentate gyms in mice. Methods We constructed 1-month-old and 4-month-old mice ATM knockout mice, with 12 mice in each group. The NSCs in SGZ of ATM knockout mice were isolated, cultured and identified in vitro. The proliferation ability of NSCs in SGZ of 1-month-old ATM

20.
Zhongguo yi xue ke xue yuan xue bao ; Zhongguo yi xue ke xue yuan xue bao;(6): 45-52, 2022.
Article in Chinese | WPRIM | ID: wpr-927845

ABSTRACT

Objective To explore the clinical characteristics and treatment of Pseudomonas peritoneal dialysis-associated peritonitis(PsP). Methods The data of patients receiving peritoneal dialysis in four tertiary hospitals in Jilin province from 2015 to 2019 were retrospectively analyzed.According to the etiological classification,the patients with peritoneal dialysis-associated peritonitis(PDAP)were classified into PsP group and non-PsP group.The incidence of PsP was calculated,and the clinical characteristics and treatment outcomes of the two groups were compared.Kaplan-Meier method was used to draw the survival curve,and Cox regression was performed to analyze the risk factors affecting the technical failure of PsP.The treatment options of Pseudomonas aeruginosa-caused PDAP and the drug sensitivity of PsP were summarized. Results A total of 1530 peritoneal dialysis patients with complete data were included in this study,among which 439 patients had 664 times of PDAP.The incidence of PsP was 0.007 episodes/patient-year.PsP group had higher proportion of refractory peritonitis(41.38% vs.19.69%,P=0.005),lower cure rate(55.17% vs.80.79%, P=0.001),and higher extubation rate(24.14% vs.7.09%,P=0.003)than non-PsP group.The technical survival rate of PsP group was lower than that of non-PsP group(P<0.001).Multivariate Cox regression analysis showed that Pseudomonas aeruginosa was an independent risk factor for technical failure in patients with PsP(HR=9.020,95%CI=1.141-71.279,P=0.037).Pseudomonas was highly sensitive to amikacin,meropenem,and piperacillin-tazobactam while highly resistant to compound sulfamethoxazole,cefazolin,and ampicillin. Conclusion The treatment outcome of PsP is worse than that of non-PsP,and Pseudomonas aeruginosa is an independent risk factor for technical failure of PsP.


Subject(s)
Humans , Peritoneal Dialysis/adverse effects , Peritonitis/etiology , Pseudomonas , Retrospective Studies , Treatment Outcome
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