1.Ultrasonographic manifestations of fetal atypical hepatic hemangioma:a case report
Qin LIN ; Dongmei LIU ; Jiangli DONG ; Kexuan LIU ; Jiali YU ; Jiangyi ZHAO ; Ganqiong XU
Chinese Journal of Ultrasonography 2025;34(4):348-351
The pregnant woman was 34 years old,G9P0,at 32 weeks of gestation,the routine prenatal examination of the fetus in the Second Xiangya Hospital,Central South University indicated that “The hyperechoic mass in the right lobe of the liver,Hepatic hemangioma?Hepatoblastoma?”. Since then,multiple fetal and postnatal color ultrasound scans indicated progressive enlargement of the mass. The fluctuation of serum alphafetoprotein(AFP)was increased after birth,the possibility of a malignant tumor could not be ruled out by imaging and laboratory examinations. The child underwent hepatectomy 70 days after birth. The final diagnosis was hepatic hemangioma,and a one-year follow-up showed that she had a good prognosis. Fetal liver hemangioma is the most common benign liver tumor,prenatal ultrasound diagnosis is not difficult. However,atypical fetal hepatic hemangioma has complex ultrasound manifestations,and prenatal diagnosis is hard to determine its nature. In this article,the ultrasonographic features of typical and atypical fetal hepatic hemangioma were compared to provide the basis for early diagnosis of atypical fetal hepatic hemangioma.
2.Familial DUOX2 mutation:diagnosis and treatment of fetal goiter and hypothyroidism
Qin LIN ; Kexuan LIU ; Jiangli DONG ; Jiali YU ; Jiangyi ZHAO ; Zhu OUYANG ; Ganqiong XU
Chinese Journal of Ultrasonography 2025;34(6):533-536
The pregnant woman was 39 years old,G2P1,a fetal goiter was found at 25 weeks at the Second Xiangya Hospital of Central South University,and thyroid function was normal during the pregnancy. Amniocentesis revealed the presence of two DUOX2 mutations in fetal DNA:c.3340delC(P.L1114Sfs56)in exon 25 and c.2654G>A(p.R885Q)in exon 20,which were determined to be heritable by familial genetic testing. Many fetal and neonatal ultrasounds have shown goiter,rich blood flow in the parenchyma and low postnatal thyroid hormone levels led to the diagnosis of congenital hypothyroidism. The patient was given L-thyroxine 30 μg/d. After 3 months of follow-up,the thyroid function was normal without developmental problems.
3.Ultrasonographic manifestations of fetal atypical hepatic hemangioma:a case report
Qin LIN ; Dongmei LIU ; Jiangli DONG ; Kexuan LIU ; Jiali YU ; Jiangyi ZHAO ; Ganqiong XU
Chinese Journal of Ultrasonography 2025;34(4):348-351
The pregnant woman was 34 years old,G9P0,at 32 weeks of gestation,the routine prenatal examination of the fetus in the Second Xiangya Hospital,Central South University indicated that “The hyperechoic mass in the right lobe of the liver,Hepatic hemangioma?Hepatoblastoma?”. Since then,multiple fetal and postnatal color ultrasound scans indicated progressive enlargement of the mass. The fluctuation of serum alphafetoprotein(AFP)was increased after birth,the possibility of a malignant tumor could not be ruled out by imaging and laboratory examinations. The child underwent hepatectomy 70 days after birth. The final diagnosis was hepatic hemangioma,and a one-year follow-up showed that she had a good prognosis. Fetal liver hemangioma is the most common benign liver tumor,prenatal ultrasound diagnosis is not difficult. However,atypical fetal hepatic hemangioma has complex ultrasound manifestations,and prenatal diagnosis is hard to determine its nature. In this article,the ultrasonographic features of typical and atypical fetal hepatic hemangioma were compared to provide the basis for early diagnosis of atypical fetal hepatic hemangioma.
4.Familial DUOX2 mutation:diagnosis and treatment of fetal goiter and hypothyroidism
Qin LIN ; Kexuan LIU ; Jiangli DONG ; Jiali YU ; Jiangyi ZHAO ; Zhu OUYANG ; Ganqiong XU
Chinese Journal of Ultrasonography 2025;34(6):533-536
The pregnant woman was 39 years old,G2P1,a fetal goiter was found at 25 weeks at the Second Xiangya Hospital of Central South University,and thyroid function was normal during the pregnancy. Amniocentesis revealed the presence of two DUOX2 mutations in fetal DNA:c.3340delC(P.L1114Sfs56)in exon 25 and c.2654G>A(p.R885Q)in exon 20,which were determined to be heritable by familial genetic testing. Many fetal and neonatal ultrasounds have shown goiter,rich blood flow in the parenchyma and low postnatal thyroid hormone levels led to the diagnosis of congenital hypothyroidism. The patient was given L-thyroxine 30 μg/d. After 3 months of follow-up,the thyroid function was normal without developmental problems.
5.Efficacy of voriconazole in the treatment of pulmonary tuberculosis complicated with chronic pulmonary aspergillosis based on CYP2C19 gene polymorphism detection and the factors affecting the efficacy
Yonggang CHEN ; Mingli YU ; Ji LUO ; Wenlin ZHANG ; Jintang HE ; Qiqi XIAO ; Junlong WANG ; Jiangli PENG
Chinese Journal of Infection and Chemotherapy 2025;25(2):132-139
Objective To investigate the efficacy of voriconazole in the treatment of pulmonary tuberculosis complicated with chronic pulmonary aspergillosis(CPA)based on CYP2C19 gene polymorphism detection and examine the factors affecting the efficacy for improving targeted therapy in clinical practice.Methods A total of 207 patients with pulmonary tuberculosis complicated with CPA treated in the Third People's Hospital of Kunming from December 2018 to November 2022 were randomly assigned to an observation group(105 cases)or a control group(102 cases).The patients in the control group received standard voriconazole treatment,while the patients in the observation group had their voriconazole regimen tailored based on CYP2C19 genotyping results.Plasma drug concentration levels,efficacy,and safety were compared between the two groups and in terms of CYP2C19 genotypes.Logistic regression analysis was used to identify the factors affecting treatment efficacy.Results The observation group showed significantly higher plasma voriconazole concentrations and overall antifungal efficacy compared to the control group(P<0.05).In the observation group,CYP2C19 genotyping identified 37 extensive metabolizers(EM),47 intermediate metabolizers(IM),and 21 poor metabolizers(PM).Plasma concentration of voriconazole did not show significant difference between EM and IM(P>0.05),but both PM and IM were associated with significantly lower plasma concentration of voriconazole than PM(P<0.05).The clinical efficacy rate was 100%for PM,91.5%for IM,and 83.8%for EM(P<0.05).The incidence of adverse events did not show significant difference among the three genotypes(P>0.05).Logistic regression analysis revealed that lung cavitation,hypoalbuminemia,and agranulosis were significantly correlated with therapeutic efficacy(P<0.05).Conclusions CYP2C19 gene polymorphism detection is valuable in clinical practice.It can inform anti-aspergillus therapy with voriconazole to effectively improve symptoms and clinical efficacy in patients with pulmonary tuberculosis complicated with CPA.Meanwhile,clinicians should be aware of the factors such as hypoproteinemia,agranulocytosis,and lung cavitation that may affect the efficacy of voriconazole.
6.Efficacy of voriconazole in the treatment of pulmonary tuberculosis complicated with chronic pulmonary aspergillosis based on CYP2C19 gene polymorphism detection and the factors affecting the efficacy
Yonggang CHEN ; Mingli YU ; Ji LUO ; Wenlin ZHANG ; Jintang HE ; Qiqi XIAO ; Junlong WANG ; Jiangli PENG
Chinese Journal of Infection and Chemotherapy 2025;25(2):132-139
Objective To investigate the efficacy of voriconazole in the treatment of pulmonary tuberculosis complicated with chronic pulmonary aspergillosis(CPA)based on CYP2C19 gene polymorphism detection and examine the factors affecting the efficacy for improving targeted therapy in clinical practice.Methods A total of 207 patients with pulmonary tuberculosis complicated with CPA treated in the Third People's Hospital of Kunming from December 2018 to November 2022 were randomly assigned to an observation group(105 cases)or a control group(102 cases).The patients in the control group received standard voriconazole treatment,while the patients in the observation group had their voriconazole regimen tailored based on CYP2C19 genotyping results.Plasma drug concentration levels,efficacy,and safety were compared between the two groups and in terms of CYP2C19 genotypes.Logistic regression analysis was used to identify the factors affecting treatment efficacy.Results The observation group showed significantly higher plasma voriconazole concentrations and overall antifungal efficacy compared to the control group(P<0.05).In the observation group,CYP2C19 genotyping identified 37 extensive metabolizers(EM),47 intermediate metabolizers(IM),and 21 poor metabolizers(PM).Plasma concentration of voriconazole did not show significant difference between EM and IM(P>0.05),but both PM and IM were associated with significantly lower plasma concentration of voriconazole than PM(P<0.05).The clinical efficacy rate was 100%for PM,91.5%for IM,and 83.8%for EM(P<0.05).The incidence of adverse events did not show significant difference among the three genotypes(P>0.05).Logistic regression analysis revealed that lung cavitation,hypoalbuminemia,and agranulosis were significantly correlated with therapeutic efficacy(P<0.05).Conclusions CYP2C19 gene polymorphism detection is valuable in clinical practice.It can inform anti-aspergillus therapy with voriconazole to effectively improve symptoms and clinical efficacy in patients with pulmonary tuberculosis complicated with CPA.Meanwhile,clinicians should be aware of the factors such as hypoproteinemia,agranulocytosis,and lung cavitation that may affect the efficacy of voriconazole.
7.Afferent baroreflex failure with hyponatremia:A case report
Shengjia PENG ; Yu QI ; Lijie SUN ; Dan LI ; Xinyu WANG ; Jiangli HAN ; Baoxia CHEN ; Yuan ZHANG
Journal of Peking University(Health Sciences) 2024;56(2):357-361
Afferent baroreflex failure(ABF)is a rare disease.It refers to the clinical syndrome caused by the impairment of the afferent limb of the baroreflex or its central connections at the level of the medul-la.The recognized causes include trauma,surgery in related areas(radical neck tumor surgery,carotid endarterectomy),neck radiotherapy,brain stem stroke,tumor growth paraganglioma and hereditary diseases,among which the most common cause is extensive neck surgery or radiotherapy for neck cancer.The main manifestations are fluctuating hypertension,orthostatic hypotension,paroxysmal tachycardia and bradycardia.This case is a young man,whose main feature is blood pressure fluctuation,accom-panied by neurogenic orthostatic hypotension(nOH).After examination,the common causes of hyper-tension and nOH were ruled out.Combined with the previous neck radiotherapy and neck lymph node dissection,it was considered that the blood pressure regulation was abnormal due to the damage of carotid sinus baroreceptor after radiotherapy for nasopharyngeal carcinoma and neck lymph node dissection,which was called ABF.At the same time,the patient was complicated with chronic hyponatremia.Com-bined with clinical and laboratory examination,the final consideration was caused by syndrome of in-appropriate antidiuretic hormone(SIADH).Baroreceptors controlled the secretion of heart rate,blood pres-sure and antidiuretic hormone through the mandatory"inhibition"signal.We speculate that the carotid sinus baroreceptor was damaged after neck radiotherapy and surgery,which leads to abnormal blood pres-sure regulation and nOH,while the function of inhibiting ADH secretion was weakened,resulting in higher ADH than normal level and mild hyponatremia.The goal of treating ABF patients was to reduce the frequency and amplitude of sudden changes in blood pressure and heart rate,and to alleviate the on-set of symptomatic hypotension.At present,drug treatment is still controversial,and non-drug treatment may alleviate some patients'symptoms,but long-term effective treatment still needs further study.The incidence of ABF is not high,but it may lead to serious cardiovascular and cerebrovascular events,and the mechanism involved is extremely complicated,and there are few related studies.The reports of rele-vant medical records warn that patients undergoing neck radiotherapy or surgery should minimize the da-mage to the baroreceptor in the carotid sinus in order to reduce the adverse prognosis caused by complica-tions.
8.Study on efficacy and safety of oral mucosal exfoliated cells used in rapid detection of MTHFR C677T gene mutation in patients with hypertension
Jiangli YU ; Bizhen GAO ; Shuyi DANG ; Junfeng WANG ; Yunjie WEI ; Gangyan ZHOU ; Xiao DONG
Chongqing Medicine 2024;53(14):2125-2129
Objective To study the accuracy and safety of oral mucosal exfoliated cell specimens used in the bedside rapid detection of MTHFR C677T genotype by using the fluorescent probe method.Methods The outpatients and inpatients with hypertension visited and admitted in the department of cardiovascular medicine of this hospital from January 2019 to September 2020 were selected.The plasma homocysteine (Hcy) level in all patients was detected in the laboratory,a total of 482 hypertensive patients with Hcy≥10 μmol/L were se-lected,and the oral mucosal cells and whole blood sample were collected in all patients,and the genotypes of the above specimens were detected by the oral mucosal exfoliative cell fluorescent probe method and whole blood sample contrast reagents.If the two test results were inconsistent,the "gold standard" Sanger sequen-cing method was used to detect the whole blood sample for the final determination of MTHFR C677T geno-type.The coincidence rate was compared between the two detection methods,and the probability of adverse e-vents during the samples collection was observed and recorded.The accuracy and safety of fluorescence probe method for detecting MTHFR C677T genotype in the patients with oral mucosa exfoliation was evaluated.Re-sults The oral mucosal exfoliated cell samples and whole blood samples from 482 hypertensive patients were successfully collected,and no obvious adverse reactions occurred during the sampling process.The incidence rate of total mutation of MTHFR C677T gene detected by the fluorescence probe method and contrast reagent all were 73.23% (353/482),the coincidence rate of homozygous wild type (CC type) in MTHFR C677T gene detected by the two methods was 100.00% (95%CI:97.11-100.00),which of heterozygous mutant type (CT type) was 99.14% (95%CI:96.91-99.76),which of homozygous mutant type (TT type) was 99.17%(95%CI:95.47-99.85),the total coincident rate of MTHFR C677T genotype was 99.38% (95%CI:98.19-99.79)and the detection results consistency Kappa value was 0.9902.Conclusion The detection of MTHFR C677T gene mutation in oral mucosal exfoliated cells by fluorescent probe method is simple with less invasion,moreover which is rapid,safe and accurate.
9.Digital imaging fiber optic transillumination (DIFOTI) method for determining the depth of cavity
Jiangli YU ; Rentao TANG ; Lin FENG ; Yanmei DONG
Journal of Peking University(Health Sciences) 2017;49(1):81-85
Objective:To analyze the accuracy of the digital imaging fiber optic transillumination (DIFOTI) on diagnosis of caries lesions depth using DIAGNOcam system.Methods:This experiment adopted self-matching design.Seventy-four extracted teeth (molar:sixty-six,premolar:eight) with one caries lesions in proximity which were not damaged in surface marginal ridge were selected.Dental calculus and dental stains were removed from the extracted teeth for standby application.A sign was marked in the middle of the occlusal surface edge at the side of decay.Then the teeth were fixed in the standard model of dentition and cavities were adjacent with the sound tooth surface.Sticky wax was applied to seal the level of 2 mm beyond cemento-enamel junction (CEJ) in the direction of occlusion and interproximal space to imitate gingival margin and gingival papilla.The standard models of dentition was seated in imitation head mold.The lesions depth degree was looked into and checked with DIAGNOcam system.Besides,the pictures on the occlusal surfaces were recorded and saved.The sign above could be seen on the picture.The measuring tool in DIAGNOcam system was used to measure the depth of the caries from the sign (as starting point) to the deepest point of caries in the pictures and its length was recorded for a.The line a was lengthened to the contralateral edge of occlusal surface in the photo and the length was recorded for b.A line from the marked point on the occlusal surface edge of the extracted teeth was draw parallel to the line b on the corresponding photo and its length was recorded for c.The depth of the cavities on the projected images was recorded for d,and calculated d/a =c/b (digital optical fiber measured decay depth/caries damage depth of the image =actual tooth width/tooth width of the image),and d =c/b × a inferred.At last,the teeth were taken out from the standard model dentition.The decay of the tooth was removed completely.The actual depth of the cavity was recorded for D.The difference between d and D was recorded for Δd.The software of SPSS 20.0 was used to test the consistency of the results,and the MedCalc 14.8.1.0 software was used for Bland-Altman analysis.Results:The intraclass correlation coefficient (ICC) between d and D was 0.951 (ICC > 75 %),P =0.263.There was a function relationship y =0.23 ± 0.9 1x between d (x) and D (y).Bland-Altman analysis method showed that the mean of Δd (Δd) was 0.05 mm,the standard deviation of Δd (ΔdsD) =0.308,and the 95% confidence interval was (-0.55 to 0.65).The amplitude of difference was clinically acceptable.So the consistency of the two measurement modes was high.Conclusion:There was no significant difference between the depth of caries lesions checked with DIAGNOcam system and the depth of the actual cavity,and the consistency was very good.The vitro study suggests that the DIAGNOcam system may be used to assess the depth of caries cavity as a useful tool in diagnosis and treatment.
10.Characteristic of Liver Injury Induced by Simvastatin Combined with HRZ in SD Rats
Shenghao LI ; Jie CHEN ; Yingrong DU ; Mingli YU ; Jiangli PENG
Journal of Kunming Medical University 2016;37(7):1-5
Objective To study the characteristics of liver injury induced by simvastatin combined with HRZ (Isoniazid,Rifampicin and Pyrazinamide) in SD rats.Methods Fifty-four 8-week-old SD rats were randomly divided into 3 groups:group A (control),group B (HRZ) and group C (simvastatin combined to HRZ),half of each group were male.We calculated the accurate dose respectively before those rats were given intragastrical administration of corresponding drugs.Six rats were killed in each group on 10th,20th and 40th day,respectively.Before this,blood was fastened from femoral of every rat that would be killed to test liver function,liver tissue slices were made in order to observe the pathological characteristic.Results Alanine amiotransferase of group C elevated in line with time and reached statistic difference on 40th day,furthermore,it was significantly higher than group A (P<0.05).Total bilirubin and direct Bilirubin of group C were significantly higher than those of group A from the beginning to the end (P<0.05),however,they declined rapidly on 10th day,this trend also had statistic difference (P<0.05) At the end of this experiment,hepatic cords was disordered slightly,but swelling liver cells and vacuolar degeneration were observed,the nuleus of cell condensed.Soakage of monocytes,neutrophils,and lymphocytes occurred in the portal and lobule regions,or even spotty necrosis occasionally.Conclusion Cholestasis occurs at the early stage when simvastatin is combined with HRZ in SD rats,however,it has a rapidly degressive trend.In contrast,Alanine amiotransferase elevates,furthermore,pathological injury or even spotty necrosis can emerge in liver tissue slices.

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