1.Analysis and Discussion of Clinical Features of Complete Androgen Insensitivity Syndrome Combined with Müllerian Duct Remnants
Shanjiao QIU ; Yuying XU ; Jun ZHANG ; Delu CHEN ; Cheng XU ; Huamei MA ; Juncheng LIU ; Shaobin LIN
Journal of Sun Yat-sen University(Medical Sciences) 2024;45(6):1026-1035
[Objective]To present a case of complete androgen insensitivity syndrome (CAIS) coexisting with Müllerian duct remnants (MDR) and to review previous reports in the literature to enhance the understanding of the clinical manifestations and pathophysiology of CAIS.[Methods]The study aimed to diagnose complete androgen insensitivity syndrome (CAIS) by conducting physical examinations,chromosomal analysis,whole exome sequencing,laboratory tests including follicle-stimulating hormone (FSH),luteinizing hormone (LH),total testosterone,estradiol,anti-Müllerian hormone (AMH),inhibin B,dehydroepiandrosterone sulfate (DHEAS),androstenedione,17-hydroxyprogesterone,and imaging studies such as pelvic ultrasound and pelvic magnetic resonance imaging (MRI). Laparoscopy revealed the presence of Müllerian duct structures. Additionally,the study reviewed similar cases of CAIS combined with Müllerian duct remnants reported in the literature.[Results]The child presented with female phenotype,elevated levels of FSH,LH,and testosterone. Pelvic MRI showed bilateral cryptorchidism without visible uterus or fallopian tubes. The chromosomal karyotype was 46,XY,and whole exome sequencing identified a pathogenic variant in the androgen receptor (AR) gene,c.2359C>T (p.Arg787*). No abnormalities were found in the AMH and AMHR2 gene tests. Laparoscopic exploration revealed underdeveloped testes and an underdeveloped uterus. Pathology showed the presence of fallopian tube-like structures next to the testicles. A total of 11 cases with genetically confirmed diagnosis of CAIS coexisting with MDR were retrieved from the database. The findings suggest that the initial clinical presentation,biochemical data,and gonadal pathology of CAIS with MDR are similar to those without MDR.[Conclusion]The study reports a patient with CAIS coexisting with MDR,which broadens the clinical spectrum of CAIS and provides a perspective for basic research on Müllerian duct regression that is independent of the AMH-AMHR2 signaling pathway.
2.Establishment of nomogram model of acute ST-segment elevation myocardial infarc-tion with cardiac rupture
Peng WU ; Ning YAN ; Juan MA ; Mohan WANG ; Shaobin JIA ; Xueping MA
Chinese Journal of Arteriosclerosis 2024;32(5):415-423
Aim To analyze the risk factor of the cardiac rupture(CR)in patients with acute ST-segment eleva-tion myocardial infarction(STEMI).Based on this,the nomogram model of acute STEMI patients with CR was estab-lished.Methods Through Ningxia Medical University General Hospital's big data research platform and hospital in-formation system retrieval,5 412 patients with acute STEMI from January 2015 to December 2019 were continuously includ-ed in the study,of which 91 patients with CR were included as CR group;5 321 patients non-combined with CR were in-cluded as non-CR group.LASSO regression,univariate and multivariate Logistic regression were used to analyze the risk factors of CR in patients with acute STEMI,and the CR nomogram predictive model was established.The nomogram mod-el was validated and evaluated by using receiver operating characteristic(ROC)curve,Hosmer-Lemeshow test and clinical decision curve analysis(DCA).Results LASSO regression results showed that age,female,hypertension history,first medical contact time,shock index,Killip grade,white blood cell count,d-dimer,lactic acid,anterior myocardial in-farction,β-blocker administration within 24 hours,angiotensin converting enzyme inhibitor/angiotensin receptor antagonist(ACEI/ARB)administration within 24 hours,emergency percutaneous coronary intervention(PCI)were 13 risk factors of CR(P<0.05).The screened 13 risk factors were analyzed by univariate and multivariate Logistic regression,the results suggested that age,Killip grade,first medical contact time,white blood cell count,not undergoing emergency PCI and not taking ACEI/ARB drugs within 24 hours were the risk factors of CR in patients with acute STEMI.The acute STEMI with CR nomogram model was established according to the above 6 risk variables.The area under the ROC curve before and after the internal verification of the nomogram model was 0.946(95%CI:0.927~0.961),0.947(95%CI:0.927~0.959),and the sensitivity was 0.957 and 0.904,respectively,the specificity was 0.858 and 0.876,respectively,which indicated that the model had good discrimination degree.The Hosmer-Lemeshow test showed that the deviation between the predicted value and the observed value was not statistically significant(x2=12.70,P=0.122),indicating that the no-mogram model had a good calibration.The DCA curve indicated that the predictive probability threshold of the model was from 0.00 to 0.40,and the clinical net benefit was the highest,indicating that the model had good clinical efficacy.Conclusion The nomogram model established in this study has better distinction,calibration and clinical effectiveness.It can effectively predict the probability of acute STEMI with CR,and provide some help for clinical diagnosis and treat-ment,so as to reduce the incidence of CR.
3.Analysis of curative effect of laparoscopic appendectomy during pregnancy
Hua HUANG ; Shaobin MA ; Yang YUAN ; Ling MA ; Han XUE ; Shuaijun MA ; Xiaoyu MA ; Xuanxuan CHEN ; Weibo ZHANG
China Journal of Endoscopy 2024;30(9):71-77
Objective To explore the advantages and safety of laparoscopic operation compared with open surgery for the treatment of acute appendicitis in pregnancy.Methods The clinical data of 22 patients with early,middle and late pregnancy acute appendicitis from November 2004 to April 2023 were retrospectively analyzed.They were divided into laparoscopic operation group(n=9)and open group(n=13)according to the operation method.The infection indicators and fetal outcome indicators were compared between the two groups.Results Comparison of hospitalization time,intraoperative bleeding,drain placement rate,C-reactive protein,procalcitonin,antibiotic use time,incision infection rate,abdominal infection rate,fertility preservation treatment time,pathological manifestations,preterm delivery rate,delivery mode,fetal survival rate between the two groups,the differences were not statistically significant(P>0.05);the operation time of laparoscopic group was longer than that of open group,postoperative analgesic use time,postoperative time of first feeding and postoperative anal defecation time were shorter than those of open group,postoperative leukocyte count was lower than that of open group,the differences were all statistically significant(P<0.05),and anesthesia mode was statistically significant(P<0.05).Conclusion Laparoscopic surgery is safe and feasible for the treatment of appendicitis in pregnancy.Compared with laparotomy,it has the advantages of small incision,beautiful incision,fast intestinal recovery,early feeding,less infection,good maternal-fetal outcome and high fetal safety.
4.Diagnosis and Treatment of Low-flow Priapism (Report of 35 Cases)
Jinfeng WANG ; Tao WANG ; Chunying ZHANG ; Li MA ; Yiming FU ; Shaobin NI
Progress in Modern Biomedicine 2017;17(26):5169-5172
Objective:To discuss the diagnostic approaches and treatment choices of low-flow priapism.Methods:35 cases of patients suffered from the low-flow priapism in our hospital from September 2010 to October 2016 were selected and diagnosed with the low-flow (ischemic) priapism by combining cavernous blood gas analysisand and color duplex ultrasonography.The priapism lasted 12 to 240 h with a mean of 72 h.31 patients of them had ever been induced by Polysaccharide Sulfate.One appeared priapism after sexual life.One appeared priapism after micturition.2 of them were not known what drug they had taken.Results:The symptoms disappeared in 5 cases as a result of using cold compress,sedation method and intracavemous lavage in hospital.But 30 cases were still priapism.Their penis were in a flaccid state after they were performed with the operation of glandular cavemosum shunting.During the 6-24 months of follow-up,31 patients developed erectile dysfunction.Among them,13 cases were light to mid erectile dysfunction,10 cases were mildly and 8 cases were the worst.Conclusion:(1) Using cavernous blood gas analysis and color duplex ultrasonography is important way to diagnose priapism.(2) Cold compress,sedation method and intracavemous lavage are the first treatments for the the low-flow priapism.If they are not the effectual cure,the operation of glandular cavemosum shunting should be performed in time.
5.Balloon dilation versus Amplatz dilation during ultrasound-guided percutaneous nephrolithotomy for staghorn stones.
Minghua REN ; Cheng ZHANG ; Weijun FU ; Yiming FU ; Li MA ; Weiming ZHAO ; Wanhai XU ; Shaobin NI
Chinese Medical Journal 2014;127(6):1057-1061
BACKGROUNDAmplatz dilation and balloon dilation are different methods in creating the accesses during percutaneous nephrolithotomy (PCNL). The aim of this study was to review the surgical experiences of managing staghorn calculi by Amplatz dilation and balloon dilation for 3 years.
METHODSWe retrospectively analyzed clinical data from 125 patients (129 kidneys) with staghorn kidney stones who underwent PCNL from January 2010 to December 2012, of whom 60 patients underwent Amplatz dilation (AD group) and 65 underwent balloon dilation (BD group) during PCNL.
RESULTSThe AD and BD groups were similar in age, male-female ratio, stone burden, stone type, hydronephrosis, and proportion of patients who had undergone extracorporeal lithotripsy. However, these two groups showed significant differences in terms of duration of percutaneous access (15.1 ± 3.6) minutes vs. (10.0 ± 3.3) minutes, one-attempt success rate of dilation via a single access 88.9% (72/81) vs. 97.8% (91/93), hemoglobin drop after surgery (3.5 ± 0.9) g/dl vs. (1.7 ± 0.9) g/dl, number of cases requiring intraoperative and postoperative blood transfusion 27.9% (n = 17) vs. 13.2% (n = 9), changes of central venous pressure before and after surgery (2.3 ± 1.2) cmH2O vs. (1.2 ± 0.7) cmH2O, number of patients who experienced postoperative fever >37.5°C 21 (34.4%) vs. 13 (19.1%) (all P < 0.05). No injury of adjacent organs, including pleura, liver, spleen, or bowel, was noted in patients.
CONCLUSIONSDuring ultrasound-guided PCNL for staghorn stones, balloon dilation and Amplatz dilation are all effective and safe. Compared with Amplatz dilation, balloon dilation is a better choice, as it has a higher access creation success rate, shorter access creation time less blood loss, and lower proportions of circulatory overload and postoperative fever.
Adult ; Aged ; Female ; Humans ; Kidney Calculi ; surgery ; Male ; Middle Aged ; Nephrostomy, Percutaneous ; methods ; Retrospective Studies ; Young Adult
6.The effect of aspiration thrombectomy catheter in primary percutaneous coronary intervention after implant different vessel diameter stent
Lie MA ; Zhigang TIAN ; Yumin QIU ; Zhijun LIU ; Qingbin XU ; Guangzhi CONG ; Shaobin JIA
Chongqing Medicine 2014;(19):2432-2433,2436
Objective To assess under different vessel diameter ,the effect of the aspiration thrombectomy catheter in improving the myocardial reperfusion and clinical prognosis in patients with acute myocardial infarction (AMI)who were undergone primary percutaneous coronary intervention(PCI) .Methods 205 patients with AMI immediate implant stents after thrombus suction ,the TIMI flow grade(myocardial infarction thrombolysis treatment test flow classification ) ,postoperative ecg evolution ,incidence of no-reflow MACE in 30 days and MACE in 6 months were compared between conventional thrombus suction group and suction again group(blood vessels of <3 .0 mm and ≥3 .0 mm) .Results The level 3 blood flow rate ,MACE in 6 months in suction again group with blood vessels of ≥3 .0 mm had improved significantly ,but had no beneficial effects in blood vessels of ≥3 .0 mm .Conclusion In AMI patients treated with primary PCI ,application of aspiration thrombectomy catheter with blood vessels of ≥3 .0 mm may im-prove the flow condition before infarction related blood vessels ,reduce MACE .
7.The clinical application study on 64-MSCT virtual endoscopy in the examination of colon lesions
Shaobin LIN ; Rongzhi XIE ; Xingcan MA ; Jianli FANG
Chinese Journal of Primary Medicine and Pharmacy 2013;20(2):169-171
Objective To evaluate 64-MSCT virtual endoscopy in the examination method,displaying ability and clinical application of colon lesions.Methods Compared the results of 49 cases of patients examined with 64-MSCT with that got from Coloscopy,and statistical analysis was conducted.Results A total of 19 cases of adenocarcinoma and 2 cases of colonic diverticula as well as 44 cases of adenomatous polyp were detected.The display rate of polyps was 100% in which was larger than 10mm,73% in which was range of 5 ~ 10mm in size and 50% in which was smaller than 5mm.Conclusion As an relatively noninvasive examination method,64-MSCT virtual endoscopy is concordant with onventional colonoscopy in the aspect of detectable rate and revealing the lesion morphologic and can be used as an important examination measure in the diagnosis for colonic diseases.
8.CT and MRI appearance of acute necrotizing encephalopathy caused by children A H1N1 influenza
Shaobin LIN ; Rongzhi XIE ; Banghao ZHENG ; Suli HE ; Shuhua MA
Chinese Journal of Primary Medicine and Pharmacy 2012;19(2):201-203
Objective To evaluate the imaging features of acute necrotizing encephalopathy caused by children A H1N1 influenza.Methods CT and MRI brain imaging data of three children acute necrotizing encephalopathy caused by A H1N1 influenza virus and proved by clinical and laboratory investigation were analyzed.All the three children got CT and MRI scan because of coma while in hospital.Results All cases represented multifocal damage,and some were symmetrical.Bilateral thalamencephalons were involved in the all cases.Bilateral grey and white matters of frontal lobe,temporal lobe,parietal lobe and occipital lobe,and hippocampi,putamina,external capsule,brain stem,bilateral cerebellum,could be seen multifocal damage,and some were symmetrical.All the cases showed brain swelling in varying degrees.These region presented low density in CT,hypointensity on T1 weighted series and hyperintensity on T2 weighted series and FLAIR series in MRI.Conclusion The imaging features of acute necrotizing encephalopathy caused by children A H1N1 influenza represented multifocal and symmetrical damage and brain swelling.It may be characteristic that bilateral thalamencephaloas were involved.The patient was serious,and fatality rate was high.So we should pay much attention to acute necrotizing encephalopathy caused by children A H1 N1 influenza.
9.Clinical research on treatment of 25 cases of urethral stricture with a guide-wire-leading balloon dilatation catheter
Yingshun DUAN ; Shaobin NI ; Qiyin CHEN ; Zhongshan ZHAO ; Li MA ; Zhixing JIAO
Chinese Journal of Primary Medicine and Pharmacy 2011;18(11):1496-1497
Objective To observe the effect and safety of the treatment of urethral stricture with guide wires leading a balloon dilatation catheter.Methods The clinical date of 25 cases of male patients suffering traumatic posterior urethral stricture were analyzed retrospectively,was treated with a balloon dilation catheter led by guide wires.Results All our patients were cured successfully with a guide-wire-leading balloon dilatation catheter expanding only once and there were no complications such as urethral perforation,rectal injury etc.Although 2 cases had not been ohviously improved risht after dilatation,but improved furtherly six months later.The follow-up was six to twelve months.23 cases were cured.2 osses were improved.The recovery rate was 92%.The effective rate was 100%.Conclusion It was safe and effective to treat urethral stricture with balloon dilation catheter led by guide wires.
10.Mindfulness-based relapse prevention for female incarcerated substance abusers with protracted withdrawal syndromes
Huan TIAN ; Cunxin FAN ; Chunhua LUO ; Hong ZENG ; Xiaoyan WU ; Shaobin MA
Chinese Journal of Behavioral Medicine and Brain Science 2011;20(9):806-808
Objective To evaluate effects of mindfulness-based relapse prevention treatment in female incarcerated substance abusers with protracted withdrawal syndromes.Methods 120 female incarcerated substance abusers were selected from compulsory rehabilitation/treatment center,they were randomly assigned by throwing coin to either treatment group or control group.All participants in treatment group got mindfulness-based relapse prevention treatment.At pre- and post-session assessment points,all participants completed the Five Factor Mindfulness Questionnaire and Opiate Protracted Abstinent Symptoms Scale.Two sample t -test and chi-square were used to examine the baselines,repeated measures ANOVA for assessing changes of mindfulness and protracted abstinent syndromes between and within groups.Results No differences between-group were found on mindfulness and protracted abstinent syndromes.Group x Time effects emerged for observe facet (F=27.87,P=0.000),describe facet(F=15.10,P=0.000) and total scores of mindfulness (F =12.05,P=0.001 ),the same as craving symptoms(F=7.53,P=0.007) and sleeping symptoms (F=4.40,P=0.038) of protracted abstinent symptoms.On sleep symptoms,participants in treatment group got(5.7 ±4.0) score before treatment points,got (3.5 ±3.1 )after treatment points.Participants in control group got (4.3 ± 3.6) at pre-session assessment,got (3.7 ± 3.5 ) at post-session assessment,participants in treatment group got better improvement in sleeping symptoms.Physical symptom score of protracted abstinent symptoms among treatment group participants showed a downward trend over time(F=14.89,P =0.000).Conclusion Mindfulness-based relapse prevention treatment can increase mindfulness scores,and improve physical and sleeping problems.Compulsory rehabilitation center is helpful for substance abusers.

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