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1.
International Eye Science ; (12): 458-462, 2024.
Article in Chinese | WPRIM | ID: wpr-1011401

ABSTRACT

AIM: To evaluate the performance of three distinct large language models(LLM), including GPT-3.5, GPT-4, and PaLM2, in responding to queries within the field of ophthalmology, and to compare their performance with three different levels of medical professionals: medical undergraduates, master of medicine, and attending physicians.METHODS: A total of 100 ophthalmic multiple-choice tests, which covered ophthalmic basic knowledge, clinical knowledge, ophthalmic examination and diagnostic methods, and treatment for ocular disease, were conducted on three different kinds of LLM and three different levels of medical professionals(9 undergraduates, 6 postgraduates and 3 attending physicians), respectively. The performance of LLM was comprehensively evaluated from the aspects of mean scores, consistency and confidence of response, and it was compared with human.RESULTS: Notably, each LLM surpassed the average performance of undergraduate medical students(GPT-4:56, GPT-3.5:42, PaLM2:47, undergraduate students:40). Specifically, performance of GPT-3.5 and PaLM2 was slightly lower than those of master's students(51), while GPT-4 exhibited a performance comparable to attending physicians(62). Furthermore, GPT-4 showed significantly higher response consistency and self-confidence compared with GPT-3.5 and PaLM2.CONCLUSION: LLM represented by GPT-4 performs well in the field of ophthalmology, and the LLM model can provide clinical decision-making and teaching aids for clinicians and medical education.

2.
Chinese Journal of Radiation Oncology ; (6): 638-643, 2023.
Article in Chinese | WPRIM | ID: wpr-993243

ABSTRACT

Neoadjuvant therapy, especially neoadjuvant chemoradiotherapy, has become the standard preoperative treatment for locally advanced resectable esophageal cancer, whereas the recurrence and distant metastasis rates after surgery remain high. In recent years, programmed cell death protein 1 (PD-1) / programmed death-ligand 1 (PD-L1) immune checkpoint inhibitors have been widely adopted in immunotherapy for cancer. Whether PD-1/PD-L1 immune checkpoint inhibitors combined with neoadjuvant chemotherapy / neoadjuvant chemoradiotherapy could further improve clinical efficacy, increase the complete surgical resection rate and safety are current research hotspots. In this article, neoadjuvant immunotherapy combined with chemotherapy / radiochemotherapy for esophageal cancer was reviewed.

3.
Chinese Journal of Orthopaedic Trauma ; (12): 556-561, 2023.
Article in Chinese | WPRIM | ID: wpr-992748

ABSTRACT

Objective:To determine the anatomical parameters concerning the length, width and height of the sustentaculum fragment of the calcaneus using CT imaging data and their clinical significance.Methods:A retrospective study was conducted to analyze the CT imaging data of normal calcaneus in 96 patients (100 feet) which had been collected by Department of Orthopedics, Shanghai Tongji Hospital from January 2019 to September 2020. There were 45 males (48 feet) and 51 females (52 feet) with an age of (42.1±13.6) years, and 56 left feet and 44 right feet. After 3D models were reconstructed with the CT data using software Mimics 22.0, the calcaneus was viewed layer by layer at each level of the scan. After the first continuous bone trabecula on the medial side of the calcaneal central triangle was taken as the boundary, the model of the sustentaculum fragment was segmented. The length, width, and height of the sustentaculum fragment were measured. The outer contour of the sustentaculum fragment was projected onto the lateral wall of the calcaneus to draw the contour line using software Materialise 3-Matic 22.0. By overlaying projection line diagrams, a summary of projection line diagrams of 100 sustentaculum fragments was obtained. Seven screw insertion points were selected in the summary region of the projection line diagrams of the lateral wall of the calcaneus, and the distance from each point to the medial side of the calcaneus were measureed. The length, width, and height of the sustentaculum fragment, as well as the distance from the 7 insertion points to the medial side of the calcaneus, were compared between different feet and genders.Results:The length, width, and height of the sustentaculum fragment were (45.19±4.60) mm, (38.57±4.59) mm and (40.76±5.48) mm, respectively. There were no significant differences in the length, width or height of the sustentaculum fragment between different feet or in the height of the sustentaculum fragment between different genders ( P>0.05), but the length and width of the sustentaculum fragment in females were significantly smaller than those in the males ( P<0.05). The projection of the sustentaculum fragment was approximately ellipse on the summary region of the projection line diagrams on the lateral wall of the calcaneus, with the long axis approximately parallel to the midpoint tangent of the lateral edge of the calcaneal posterior articular surface, ranging from 2 to 20 mm from the posterior articular surface. The distances from the 7 insertion points to the medial surface of the calcaneus were (39.91±3.77) mm at point A, (40.89±3.55) mm at point B, (36.42±5.98) mm at point C, (39.12±5.52) mm at point D, (40.04±4.84) mm at point E, (33.00±3.96) mm at point F, and (33.04±3.82) mm at point H. There was no significant difference in the distances from the 7 insertion points to the medial surface of the calcaneus between different feet ( P>0.05), but the distances from the 7 insertion points to the medial surface of the calcaneus in the females were significantly smaller than those in the males ( P<0.05). Conclusions:Anatomical measurements of the sustentaculum fragment can provide a theoretical basis for the range of fixation of the sustentaculum screws. A summary of projection line diagrams of the sustentaculum fragment on the lateral surface of the calcaneus can serve as a reference for placement of sustentaculum screws. Measurement of the distances from 7 insertion points to the medial surface of the calcaneus can facilitate determination of the lengths of sustentaculum screws.

4.
Chinese Journal of Medical Education Research ; (12): 894-897, 2023.
Article in Chinese | WPRIM | ID: wpr-991434

ABSTRACT

Clinical laboratory instrumentation is a practical course. In order to change the limitations of the experimental site and the lack of large automatic testing instruments in the current teaching, this paper puts forward the idea of virtual simulation teaching of clinical laboratory instrument. Based on the training objective of medical laboratory application-oriented talents, the design and management of virtual simulation teaching of single instrument and comprehensive project training are formed. The teaching effect evaluation and quality control method are constructed, which significantly improves the students' autonomous learning ability and the comprehensive practical ability. It further promotes the connotation construction of medical laboratory experiment teaching with the help of Internet sharing advantages.

5.
Chinese Journal of Practical Nursing ; (36): 71-77, 2023.
Article in Chinese | WPRIM | ID: wpr-990140

ABSTRACT

Objective:To systematically evaluate the effect of decision aid tools for advance care planning (ACP) in patients with cancer.Methods:Randomized controlled trials about the effect of decision aid tools for ACP in patients with cancer were retrieved from Embase, PubMed, CINAHL, the Cochrane Library, PsycINFO, Chinese Biomedical Literature Database, VIP, China National Knowledge Internet and Wanfang Data. The retrieval time was from inception to February 23, 2022. Literature screening, quality evaluation and data consolidation were carried out independently by two researchers. Then, RevMan 5.3 software was used for Meta analysis.Results:A total of 13 researches were included, involving 2 151 cancer patients. Meta-analysis showed that the signing of advance directives ( OR=1.81, 95% CI 1.22-2.69, Z=2.95, P<0.01) and knowledge scores related to ACP( MD=0.58, 95% CI 0.35-0.81, Z=4.90, P<0.01) in experimental group was higher than that in control group, but receiving cardiopulmonary resuscitation treatment before death ( MD=0.33, 95% CI 0.21-0.53, Z=4.64, P<0.01) and the level of decision confliction ( MD=-3.69, 95% CI-6.43--0.95, Z=2.64, P<0.01) in experimental group was lower than those in control group, and the differences were statistically significant. Conclusions:Existing evidence shows that decision aid tools can improve cancer patients′ awareness of ACP, help patients to join in ACP discussions and sign advanced directives, reduce patients' preference for cardiopulmonary resuscitation treatment before death and reduce decision-making conflicts.

6.
International Journal of Traditional Chinese Medicine ; (6): 31-36, 2023.
Article in Chinese | WPRIM | ID: wpr-989583

ABSTRACT

Objective:To evaluate the efficacy of Qinggan Bupi Jiangtang Decoction combined with western medicine in the treatment of adult type 2 diabetes mellitus (T2DM) with with liver hyperactivity and spleen deficiency syndrome.Methods:Prospective cohort study. A total of 103 T2DM patients with liver hyperactivity and spleen deficiency syndrome in the Department of endocrinology of Shanghai Municipal Hospital of Traditional Chinese Medicine from February 2020 to February 2021 were randomly divided into the observation group (52 cases) and the control group (51 cases) according to random number table method. Both groups were treated with conventional western medicine, the control group was treated with sitagliptin phosphate on the basis of routine treatment, and the observation group was treated with Qinggan Bupi Jiangtang Decoction on the basis of routine treatment. Both groups were treated for 12 weeks. TCM symptom scores were performed before and after treatment. The FPG, 2hPBG, HbA1c and fasting insulin (FINS) were detected by dry chemistry method and Roche electroluminescence method, and insulin resistance index (HOMA-IR) was calculated. The clinical efficacy was evaluated by dynamic blood glucose monitoring indexes TIR (percentage of time when glucose was in the range of 3.9-10.0 mmol/L), TAR (percentage of time when glucose was higher than the target range ≥ 11.1 mmol/L) and TBR (percentage of time when glucose was lower than the target range <3.9 mmol/L).Results:The total effective rate was 92.3% (48/52) in the observation group and 56.9% (29/51) in the control group ( χ2=15.32, P<0.01). The score of TCM syndrome in the observation group was significantly lower than that of the control group ( t=6.30, P<0.01). The compliance rate of HbA1c in the observation group was 46.2% (24/52) and that of the control group was 23.5% (12/51). There was significant difference between the two groups ( χ2=5.80, P=0.016). Compared with the groups before treatment, MAGE, TAR, TBR significantly decreased and TIR significantly increased in both groups after treatment ( P<0.01), but there was no significant difference between the two groups after treatment ( t values were 0.78, 1.06, 0.22 and 1.45, respectively, P>0.05). Compared with the groups before treatment, the levels of FPG, 2 hPBG and HbA1c in the two groups significantly decreased after treatment ( P<0.01), but there was no significant difference between the two groups after treatment ( t values were 1.32, 0.18,1.50, respectively, P>0.05). Compared with the groups before treatment, the levels of FINS and HOMA-IR in the two groups significantly decreased after treatment ( P<0.01), but there was no significant difference between the two groups after treatment ( t values were 1.25, 0.51, respectively, P>0.05). There were no adverse reactions in the observation group, 2 cases of mild nausea and 1 case of transient diarrhea in the control group. There was no significant difference between the two groups ( χ2=3.15, P=0.118). Conclusion:Qinggan Bupi Jiangtang Decoction combined with routine treatment can improve the blood glucose level, TIR and blood glucose standard rates of adult T2DM with liver hyperactivity and spleen deficiency syndrome, and the curative effect is equivalent to sitagliptin phosphate tablets.

7.
Chinese Medical Journal ; (24): 280-286, 2023.
Article in English | WPRIM | ID: wpr-970029

ABSTRACT

The lungs are one of the most common extra-articular organs involved in rheumatoid arthritis (RA), which is reported to occur in up to 60% to 80% of RA patients. Respiratory complications are the second leading cause of death due to RA. Although there is a wide spectrum of RA-associated respiratory diseases, interstitial lung disease is the most common manifestation and it impacts the prognosis of RA. There has been progress in understanding the management and progression of rheumatoid arthritis-associated interstitial lung disease (RA-ILD) and RA-associated respiratory diseases recently, for example, opportunistic pulmonary infectious diseases and toxicity from RA therapies. From a chest physicians' perspective, we will update the diagnosis and treatment of RA-associated ILD, methotrexate-associated lung disease, and the complication of Pneumocystis jiroveci pneumonia in RA in this review.


Subject(s)
Humans , Arthritis, Rheumatoid/complications , Methotrexate/therapeutic use , Lung Diseases, Interstitial/complications , Prognosis , Lung
8.
Chinese Pharmacological Bulletin ; (12): 890-896, 2023.
Article in Chinese | WPRIM | ID: wpr-1013934

ABSTRACT

Aim To investigate the neuroprotective effect of prophylactic administration of salidroside (Sal) on MCAO rats. Methods A total of 52 SD adult male rats were randomly divided into sham operation group (Sham), model group (MCAO) and salidroside pre-administration group (MCAO + Sal). The dose of Sal was 50 mg·kg

9.
Ultrasonography ; : 89-99, 2023.
Article in English | WPRIM | ID: wpr-969254

ABSTRACT

Purpose@#The aim of this study was to assess carotid stiffening in a pre-hypertensive (PHT) population using ultrafast pulse wave velocity (ufPWV). @*Methods@#This study retrospectively enrolled 626 individuals who underwent clinical interviews, serum tests, and assessments of the systolic blood pressure (SBP), diastolic blood pressure (DBP), carotid intima-media thickness (cIMT), pulse wave velocity-beginning of systole (PWV-BS), and pulse wave velocity-end of systole (PWV-ES) between January 2017 and December 2021. The patients were divided into three groups according to their blood pressure (BP)—normal BP (NBP): SBP 0.05). However, the NBP group had a notably lower PWV-ES than the PHT (P0.05). @*Conclusion@#Carotid morphological and biomechanical properties in the PHT group differed from those in the NBP group. ufPWV could be used for an early evaluation of carotid stiffening linked to pre-hypertension.

10.
Acta Pharmaceutica Sinica ; (12): 639-645, 2023.
Article in Chinese | WPRIM | ID: wpr-965637

ABSTRACT

The composition of intestinal microflora is closely related to the occurrence and development of colorectal cancer (CRC). Among them, Fusobacterium nucleatum (Fn) has been proved directly related to the recurrence, metastasis and chemotherapy resistance of CRC. Therefore, it is of great significance for the prevention and treatment of colorectal cancer by the exploration potential anti-Fn drug targets and discovery small molecule drugs. However, no selective anti-Fn small molecule inhibitors have been reported so far as well as their anti-Fn thereby "anti-Fn further anticancer" mechanisms are unclear. Herein, this article reviews the potential therapeutic targets and small molecule ligands of Fn in order to provide a reference for the development of anti-Fn and anti-CRC small molecule drugs.

11.
Acta Pharmaceutica Sinica ; (12): 646-658, 2023.
Article in Chinese | WPRIM | ID: wpr-965623

ABSTRACT

Drug-induced liver injury (DILI) is one of the common clinical adverse drug reactions and remains a major cause of drug restriction, development termination and withdrawal from the pharmaceutical market today. In recent years, a variety of chemical components and metabolites of traditional Chinese medicine (TCM), as well as the endogenous effector substances influenced by metabolism of both, have attracted much attention for their significant hepatoprotective activities. However, the mechanism of TCM against DILI is complex, the related effector substances are still unclear, and its metabolism-related studies are still relatively weak. Therefore, this review summarized the mechanisms of DILI and its treatment by TCM from the perspective of metabolism, and for the first time, innovatively classified the Chinese medicine effector substances into two categories: exogenous (active components and metabolites of TCM) and endogenous (intestinal probiotics and endogenous metabolites), in order to reduce the occurrence of DILI, explore and develop effective anti-drug-induced liver injury effector substances of TCM, and further develop clinical drugs with hepatoprotective effects.

12.
Chinese Journal of Blood Transfusion ; (12): 64-68, 2023.
Article in Chinese | WPRIM | ID: wpr-1004890

ABSTRACT

【Objective】 To detect and analyze the infection status of HBsAg non-reactive /HBV DNA reactive blood donors by individual donor-NAT (ID-NAT) and chemiluminescence technology, and to explore the feasibility and potential risks of reentry. 【Methods】 The blood screening results of blood donors in Wuhu from January 2018 to October 2021 were queried by blood station information management software. The blood donation information of all HBsAg non-reactive /HBV DNA reactive blood donors was collected and then recalled by telephone. After informed consent, samples were taken for HBV DNA nucleic acid single test, enzyme-linked immunoassay for HBsAg, chemiluminescence assay for HBV seromarkers(including HBsAg, anti-HBs, HBeAg, anti-HBe and anti-HBc), and alanine aminotransferase (ALT) test. All the results were statistically analyzed. 【Results】 From January 2018 to October 2021, there were 142 051 donations, and the positive rate of sole HBV DNA was 0.06% (91/142 051), and 33 people (37 person-times) were successfully followed up. The yield rates of HBsAg, anti-HBs and anti-HBc were 6.06% (2/33), 39.39% (13/33) and 96.97% (32/33), respectively; None HBeAg was yielded. After two times of ID-NAT, 8 patients remained non-reactive to both systems, with a negative conversion rate of 24.24% (8/33). Meanwhile, 25 patients were at least once reactive to ID-NAT, and 23 of them were occult HBV infection with serologically reactivity. There were 2(6.25%) patients with HBsAg positive conversion and HBV DNA persistent reactivity, which were window period infection. One person was confirmed as false reactivity (no HBV infection) as he remained unreactive to both repeated ID-NAT and serological tests. 【Conclusion】 Chemiluminescence assay is more sensitive than ELISA in detecting HBV serum markers, which is beneficial to early detection of HBV samples in window period. The yielding rate of anti-HBc among HBsAg non-reactive/HBV DNA reactive blood donors detected by blood screening in this region is very high, and most of them are occulting infection, so the ID-NAT should be no less than 2 times in the reentry strategy.

13.
Chinese Journal of Blood Transfusion ; (12): 590-593, 2023.
Article in Chinese | WPRIM | ID: wpr-1004790

ABSTRACT

【Objective】 To study the risk factors of blood donors confirmed to be positive for syphilis, so as to avoid highrisk groups, guide the recruitment of blood donors and improve blood safety. 【Methods】 From September 2021 to August 2022, 44 514 blood samples were screened using two enzyme-linked immunosorbent reagents for syphilis, and the reactive samples were confirmed by TPPA. Blood collection time, blood collection location, blood donation numbers, gender, age, marital status and educational level of blood donors were taken as the prediction risk factors, and factors with statistically significant differences by univariate Logistic regression analysis were further analyzed using multivariate factor Logistic regression analysis to determine the final independent risk factors. 【Results】 A total of 121 syphilis antibody reactive samples were detected by enzyme-linked immunosorbent assay, and 64 were confirmed positive by TPPA. Excluding those with incomplete information, a total of 44 505 blood donors were included in the analysis. Logistic regression analysis showed that there were statistically significant differences in blood collection location, blood donation numbers, age and education level. 【Conclusion】 Based on the analysis results of risk factors of syphilis positive blood donors in Wuhu, it is necessary to strengthen the consultation of blood donors in blood donation sites. The high-risk groups are first-time blood donors over 50 years old, with education level of junior high school or below.

14.
Chinese Journal of Medical Science Research Management ; (4): 62-66, 2023.
Article in Chinese | WPRIM | ID: wpr-995830

ABSTRACT

Objective:To establish a standardized information management system (IMS) for preserving, managing, querying, and performing statistics on biospecimens and their clinical data, which is conducive to improving the utilization of biobank.Methods:Under the premise of ensuring operating environment and data security, a database-based data logic relationship model is created and applied to the IMS to manage and analyze biospecimens and their supporting clinical information of patients enrolled in the biobank of our center.Results:To ensure the establishment of the follow-up cohort, biospecimens and clinical information of inpatients and outpatients were continuously collected in the biobank of our center. Since December 2014, more than 270 000 biospecimens from inpatient, outpatient, and scientific research have been preserved. The IMS optimized by this model efficiently completes the basic work of the biobank. At the same time, the data can be queried jointly and in batches, and then converted into a report format for statistical analysis.Conclusions:The IMS of our center is suitable for application and popularization as a construction and management model for the hospital-level biobank, which meets the daily work of the biobank and diverse research needs, and provides a convenient platform and rich resources for the development of precision medicine.

15.
Journal of Experimental Hematology ; (6): 1563-1568, 2023.
Article in Chinese | WPRIM | ID: wpr-1010006

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics and risk factors of acute leukemia complicated with multi-drug resistant bacterial septicemia in children.@*METHODS@#The clinical data of children with acute leukemia complicated with septicemia admitted to the Affiliated Hospital of Guangdong Medical University from January 2013 to May 2021 were retrospectively analyzed. Their flora composition and drug resistance were also analyzed. The children were divided into multi-drug resistant bacteria (MDRB) group and non-multi-drug resistant bacteria (non-MDRB) group according to the drug sensitivity results, and the differences in clinical data between the two group were compared.@*RESULTS@#A total of 108 children had drug sensitivity results, 47 cases in the MDRB group, including 26 strians of Gram-positive bacteria (G+), the most common multi-drug resistant G+ bacteria were coagulase-negative staphylococci (CoNS) and Staphylococcus aureus, and the most common multi-drug resistant Gram-negative bacteria G- bacteria were Escherichia coli and Klebsiella pneumoniae subspecies pneumoniae. Compared with non-MDRB group, children in MDRB group had higher C-reactive protein (CRP) level and mortality rate (P <0.001, P =0.009), lower initial empirical anti-infection efficiency (P <0.001), and were more likely to have septic shock (P =0.003). Logistic analysis showed that the risk factors of acute leukemia complicated with MDRB septicemia in children were previous MDRB infection (OR =6.763, 95% CI: 1.141-40.092, P =0.035), duration of agranulocytosis before infection≥7 days (OR =3.071, 95% CI: 1.139-8.282, P =0.027), and previous use of antimicrobial drugs within 90 days before infection (OR =7.675, 95% CI: 1.581-37.261, P =0.011).@*CONCLUSIONS@#The clinical features of acute leukemia complicated with MDRB septicemia in children include a heavy inflammatory response, significantly elevated CRP, susceptibility to secondary septic shock, low efficiency of initial empirical anti-infective therapy, and high mortality rate. Previous MDRB infection, duration of agranulocytosis before infection≥7 days, and previous use of antimicrobial drugs within 90 days before infection are risk factors of acute leukemia complicated with MDRB septicemia in children.


Subject(s)
Humans , Child , Shock, Septic , Retrospective Studies , Sepsis , Risk Factors , Bacteria , Leukemia, Myeloid, Acute/complications , Acute Disease , Escherichia coli , Anti-Infective Agents , Agranulocytosis
16.
Journal of Central South University(Medical Sciences) ; (12): 565-574, 2023.
Article in English | WPRIM | ID: wpr-982323

ABSTRACT

OBJECTIVES@#Hereditary spherocytosis (HS) is the most common hereditary defect of the red cell membrane, mainly characterized by anemia, jaundice, and splenomegaly. Due to the atypical clinical manifestations and negative family history of some patients, as well as the low sensitivity and specificity of traditional laboratory examinations, it is easy for it to escape diagnosis or be misdiagnosed. At present, it has been confirmed that the mutation of ANK1, SPTB, SPTA1, SLC4A1 and EPB42 genes can cause the deletion of their corresponding coding proteins, and thus lead to the defect of erythrocyte membrane. This study aims to analyze the feasibility and clinical application value of HS gene diagnosis.@*METHODS@#Data of 26 patients from Hunan, China with HS admitted to the Department of Hematology, Second Xiangya Hospital of Central South University from January 2018 to September 2021 were retrospectively collected, and their clinical manifestations and results of laboratory examinations were analyzed. Next-generation sequencing (NGS) combined with Sanger sequencing were applied. The mutation of HS pathogenic gene and the variation of uridine diphosphate-glucuronosyl transferase 1 family polypeptide A1 (UGT1A1), a key enzyme in the regulation of bilirubin metabolism, were detected. The results of pathogenic gene variations were interpreted pathogenic gene variations in accordance with the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics (ACMG). The clinical characteristics of patients with different gene variants were analyzed, and the clinical diagnosis and genetic diagnosis were compared.@*RESULTS@#Among the 26 patients with HS, there were 23 cases of anemia, 25 cases of jaundice, 24 cases of splenomegaly, and 14 cases of cholelithiasis. There were 16 cases with family history and 10 cases without family history. The results of HS mutation test were positive in 25 cases and negative in 1 case. A total of 18 heterozygous mutations of HS pathogenic genes were detected in 19 families, among which 14 were pathogenic, 1 was likely pathogenic and 3 were of unknown significance. SPTB mutations (12) and ANK1 mutations (4) were the most common. The main variation types were nonsense mutation (9). There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the SPTB mutant group and the ANK1 mutant group (all P>0.05). The rate of splenectomy in ANK1 mutation group was higher than that in SPTB mutation group, and the difference was statistically significant (χ2=6.970, P=0.014). There were no significant differences in peripheral blood cell parameters and hemolysis indicators among different mutation types (nonsense mutation, frameshift mutation, splice site mutation and missense mutation) (all P>0.05). Among the 18 clinically confirmedpatients, there were 17 cases whose diagnosis is consistent with the genetic diagnosis. Eight patients were clinically suspected, and all of them were confirmed by detection of HS gene mutation. Twenty-four patients with HS underwent UGT1A1 mutation detection, among which 5 patients carried UGT1A1 mutation resulting in a decrease in enzyme activity, and 19 patients had normal enzyme activity. The level of total bilirubin (TBIL) in the group with reduced enzyme activity was higher than that in the group with normal enzyme activity, and the difference was statistically significant (U=22, P=0.038).@*CONCLUSIONS@#Most patients with HS have anemia, jaundice and splenomegaly, often accompanied by cholelithiasis. SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hunan, China, and there was no significant correlation between genotype and clinical phenotype. Genetic diagnosis is highly consistent with clinical diagnosis. The decrease of UGT1A1 enzyme activity can lead to the aggravation of jaundice in HS patients. Clinical combined gene diagnosis is beneficial for the rapid and precision diagnosis of HS. The detection of UGT1A1 enzyme activity related gene variation plays an important role in evaluation of HS jaundice.


Subject(s)
Humans , Codon, Nonsense , Hemolysis , Retrospective Studies , Splenomegaly , Bilirubin
17.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 117-125, 2023.
Article in Chinese | WPRIM | ID: wpr-971418

ABSTRACT

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.


Subject(s)
Female , Humans , Male , Infant, Newborn , Alleles , Deafness/genetics , DNA Copy Number Variations , Forkhead Transcription Factors/genetics , Genotype , Hearing Loss/genetics , Hearing Loss, Sensorineural/genetics , Mutation , Phenotype , Sulfate Transporters/genetics , Vestibular Aqueduct , Potassium Channels, Inwardly Rectifying/genetics
18.
Acta Academiae Medicinae Sinicae ; (6): 859-862, 2023.
Article in Chinese | WPRIM | ID: wpr-1008141

ABSTRACT

Sporadic Creutzfeldt-Jakob disease(sCJD)is a prion-caused degenerative disease of the central nervous system,with the typical clinical manifestation of rapidly progressive dementia.The course of disease is less than 1 year in most patients and more than 2 years in only 2% to 3% patients.We reported a case of sCJD with expressive language disorder and slow progression in this paper.By summarizing the clinical manifestations and the electroencephalograhpy,MRI,and pathological features,we aimed to enrich the knowledge about the sCJD with slow progression.


Subject(s)
Humans , Creutzfeldt-Jakob Syndrome/pathology , Brain/pathology , Magnetic Resonance Imaging , Central Nervous System/pathology
19.
Acta Physiologica Sinica ; (6): 515-520, 2023.
Article in Chinese | WPRIM | ID: wpr-1007766

ABSTRACT

Pulmonary fibrosis is a severe lung interstitial disease characterized by the destruction of lung tissue structure, excessive activation and proliferation of fibroblasts, secretion and accumulation of a large amount of extracellular matrix (ECM), and impaired lung function. Due to the complexity of the disease, a suitable animal model to mimic human pulmonary fibrosis has not yet been established. Precision-cut lung slice (PCLS) has been a widely used in vitro method to study lung physiology and pathogenesis in recent years. This method is an in vitro culture technology at the level between organs and cells, because it can preserve the lung tissue structure and various types of airway cells in the lung tissue, simulate the in vivo lung environment, and conduct the observation of various interactions between cells and ECM. Therefore, PCLS can compensate for the limitations of other models such as cell culture. In order to explore the role of discoidin domain receptor 2 (DDR2) in pulmonary fibrosis, Ddr2flox/flox mice were successfully constructed. The Cre-LoxP system and PCLS technology were used to verify the deletion or knockdown of DDR2 in mouse PCLS. Transforming growth factor β1 (TGF-β1) can induce fibrosis of mouse PCLS in vitro, which can simulate the in vivo environment of pulmonary fibrosis. In the DDR2 knock down-PCLS in vitro model, the expression of various fibrosis-related factors induced by TGF-β1 was significantly reduced, suggesting that knocking down DDR2 can inhibit the formation of pulmonary fibrosis. The results provide a new perspective for the clinical study of DDR2 as a therapeutic target in pulmonary fibrosis.


Subject(s)
Animals , Humans , Mice , Discoidin Domain Receptor 2/metabolism , Fibroblasts/pathology , Fibrosis , Lung/pathology , Pulmonary Fibrosis/metabolism , Transforming Growth Factor beta1/metabolism
20.
Chinese Acupuncture & Moxibustion ; (12): 1028-1032, 2023.
Article in Chinese | WPRIM | ID: wpr-1007438

ABSTRACT

OBJECTIVE@#To compare the therapeutic effect between Hunyuan moxibustion and oral western medication on diarrhea-predominant irritable bowel syndrome(IBS-D)of spleen and kidney yang deficiency.@*METHODS@#Sixty patients with IBS-D of spleen and kidney yang deficiency were randomly divided into a Hunyuan moxibustion group and a western medication group, 30 cases each group. The Hunyuan moxibustion group was treated with Hunyuan moxibustion at Guanyuan(CV 4),40 min each time, once a day; in the western medication group,loperamide hydrochloride capsules (2 mg each time, 3 times a day) and bacillus licheniformis live capsules (0.5 g each time, 3 times a day) were given orally.Both groups were treated for 20 days. The scores of irritable bowel syndrome(IBS)symptom severity scale(IBS-SSS), IBS quality of life scale (IBS-QOL) and TCM symptom grading quantitative were observed before and after treatment, and the clinical efficacy and safety were evaluated in the two groups.@*RESULTS@#After treatment,each item scores and total scores of IBS-SSS in the two groups were lower than those before treatment(P<0.05), and the total scores of IBS-QOL were higher than those before treatment (P<0.05);each item score and total score of IBS-SSS in the Hunyuan moxibustion group were lower than those in the western medication group (P<0.05), and the total score of IBS-QOL in the Hunyuan moxibustion group was higher than that in the western medication group (P<0.05).After treatment, each item score and total score of TCM symptom grading quantitative in the Hunyuan moxibustion group were lower than those before treatment (P<0.05), the abdominal pain, diarrhea, lack of appetite scores and total score in the western medication group were lower than those before treatment (P<0.05);and the abdominal pain, soreness and weakness of waist and knees, fear to cold and cold limbs scores and total score in the Hunyuan moxibustion group were lower than those in the western medication group (P<0.05).The total effective rate was 90.0%(27/30)in the Hunyuan moxibustion group, which was higher than 73.3%(22/30)in the western medication group (P<0.05). No adverse reactions occurred in both groups during treatment.@*CONCLUSION@#Hunyuan moxibustion can effectively improve the symptom severity and quality of life in patients with IBS-D of spleen and kidney yang deficiency, especially in improving the symptoms of abdominal pain, soreness and weakness of waist and knees, fear to cold and cold limbs.Its therapeutic effect is superior to western medication.


Subject(s)
Humans , Spleen , Irritable Bowel Syndrome/therapy , Quality of Life , Capsules , Moxibustion , Yang Deficiency/therapy , Kidney , Abdominal Pain/therapy , Diarrhea/therapy
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