Objective:To construct a predictive model based on preoperative heat shock protein 90 alpha (HSP90 alpha) and lymphocyte count/monocyte ratio (LMR), for prediction of the textbook outcome (TO) of intrahepatic cholangiocarcinoma after surgery, and evaluate the predictive value of the model.Methods:Retrospective analysis of data from 210 patients with intrahepatic cholangiocarcinoma admitted to Chengde Central Hospital from January 2022 to December 2023, including 122 males and 88 females, aged (61.3±5.5) years. The patients were randomly divided into a training set (147 cases) and a validation set (63 cases) according to a ratio of 7: 3. According to whether the patients achieved TO after surgery, the patients in the training set were divided into a TO group ( n=39) and a non-TO group ( n=108). The conditions of tumor length < 5 cm, lymph node metastasis, large vessel invasion, preoperative HSP90α decrease, and preoperative LMR increase were compared between the two groups. Based on the training set, univariate and multivariate logistic regression were used to analyze the influencing factors of postoperative TO in patients with intrahepatic cholangiocarcinoma. Based on multi-factor results, R 4.3.0 software was used to construct a prediction model for TO. The model was evaluated by receiver operating characteristic (ROC) curve, calibration curve, and decision curve analysis (DSA). Results:Multivariate logistic regression analysis showed that the tumor diameter < 5 cm ( OR=1.917, 95% CI: 1.104-4.024), no lymph node metastasis ( OR=2.489, 95% CI: 1.030-3.619), and no invasion of large vessels ( OR=2.565, 95% CI: 2.097-5.093), the decrease of HSP90α before surgery ( OR=3.161, 95% CI: 2.536-5.358), and the increase of LMR before surgery ( OR=2.088, 95% CI: 1.454-4.262) were the influencing factors for patients TO achieve postoperative TO (all P<0.05). A correlation nomogram model was built based on the above indicators. The area under the curve of the model predicting the postoperative TO of the patients in the training set and the test set were 0.875 (95% CI: 0.782-0.938) and 0.860 (95% CI: 0.767-0.912), respectively, indicating good predictive value of the model. The calibration curve was basically consistent with the standard curve, indicating that the model has good consistency and accuracy. DCA results showed that the models had good clinical net benefit in the threshold probability range of 0.1~0.8. Conclusion:The nomogram model based on perioperative HSP90α and LMR has good accuracy and clinical applicability in predicting the possibility of achieving TO after surgery for cholangiocarcinoma, which can provide a reference for clinical treatment.

Many pathogenic genes have been identified in early-onset Parkinson′s disease, but the early-onset Parkinson′s disease with 22q11.2 deletion has not been reported in Chinese. A case of early-onset Parkinson′s disease with 22q11.2 deletion was confirmed by whole-exome sequencing-based copy number variation detection in Fujian Medical University Union Hospital. This article reports its clinical characteristics and discusses its pathogenesis, diagnosis and treatment management.

Objective:To assess the value of acoustic radiation force impulse (ARFI) elastography in the diagnosis of children with biliary atresia.Methods:A prospective survey of infants with hepatitis syndrome and hyperbi-lirubinemia in Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine from January 2017 to December 2018 was performed.The children with hepatitis syndrome were divided into the biliary atresia group( n=45) and non- biliary atresia group( n=30). Thirty children with hyperbilirubinemia were selected as the control group.Shear wave speed (SWS) of all infants was collected by ARFI ultrasound and compared among 3 groups.Receiver ope-rating characteristic curve(ROC curve) was used to analyze the optimal threshold value for SWS in the diagnosis of biliary atresia. Results:The mean SWS values in the biliary atresia group, non-biliary atresia group and the control group were (1.79±0.29) m/s, (1.26±0.12) m/s and (1.08±0.06) m/s, respectively.Compared with the control group, the mean SWS values in the biliary atresia group and non-biliary atresia group were significantly higher ( t=165.43, 15.75, all P<0.05). The mean SWS value in the non-biliary atresia group was significantly lower than that in the biliary atresia group ( t=90.27, P<0.05). With the non-biliary atresia group as reference, the area under the ROC curve of SWS for diagnosis of biliary atresia was 0.98(95% CI: 0.95-1.00), the optimal threshold was 1.45 m/s, and the sensitivity and specificity were 88.9% and 96.7%, respectively. Conclusions:Rapid non-invasive ARFI elastography is effective in the diagnosis of biliary atresia, and thus has important value for early diagnosis and treatment in clinical practice.

Objective:To investigate the efficacy of drug combined moisturizerand sunscreen with Prinsepia utilis oil and purslane in the treatment of chronic actinic dermatitis.Methods:From May 2017 to August 2018, 216 cases of chronic actinic dermatitis admitted to the Department of Dermatology, the First Affiliated Hospital of Kunming Medical University were divided into 4 groups. The 54 cases of control group was treated by oral administration of ebaxtin discontinued and hydroxychloroquine sulfate tablets for 4 weeks. The external use of desonide cream for 2 weeks. On this basis, the 56 cases of first treatment group used topical moisturizer twice a day, and topical sunscreen once a day; only topical moisturizer was used in 54 cases of second treatment group, twice a day; the 52 cases of third treatment group only used topical sunscreen once a day. Patients were followed up at 2, 4 and 6 weeks after treatment, respectively. The eczema area and severity index were detected to evaluate curative effect, and skin lesions water, trans epidermal water loss and content of lipid in the four groups of patients; reflective confocal microscope was used to observe the inflammatory reaction, blood vessels in skin lesions and so on.Results:After 6 weeks treatment, the efficacy rate of 54 cases in the first treatment group (85.2%) was significantly higher than that of 56 cases in the second treatment group (62.5%), 54 cases in the third treatment group (64.8%), 52 cases in the control group (50.0%), and the difference was statistically significant ( P<0.05). Non-invasive skin test results showed that the transepidermal water loss of the three groups was 16.42±8.64, 21.59±12.34 and 19.79±11.79, respectively, which was significantly lower than that before treatment (38.76±12.59, 38.37±14.48, 39.2±13.93). and the skin water content (42.15±10.25, 35.5±12.91, 33.42±12.83) and lipid content (37.96±11.16, 31.5±8.31, 34.09±12.51), compared with the pre-treatment skin water content (21.30±11.04, 16.86±10.88, 14.73±12.00) and lipid content (13.64±10.10, 15.67±12.60, 9.42±7.75) significantly increased, the difference was statistically significant ( P<0.05). The improvement of spongiosis (0.97±0.68), disruption of honycomb pattern and (0.82±0.77) and vascular dilatation (1.03±0.73) under reflective confocal microscope was better in first treatment than that in the second treatment (1.51±0.56, 1.0±0.77, 1.31±0.68). and the third treatment (1.35±0.85, 1.35±0.85, 0.97±0.80), and the control group (1.85±0.74, 1.85±0.74, 1.53±0.61). The difference was statistically significant ( P<0.05). Compared with the second treatment, the third treatment and control group, transepidermal water loss in the first treatment was significantly decreased, and epidermal water content and lipid content were significantly increased, with statistically significant difference ( P<0.05). Conclusions:The efficacy of drugs combined with moisturizer and sunscreen in the treatment of chronic actinic dermatitis is significantly better than that of simple drug therapy and drugs with topical moisturizer or sunscreen. It suggests that in the treatment of chronic actinic dermatitis, it is not only necessary to be anti-inflammatory, anti-photosensitive treatment, but also need to pay attention to moisturize and sun protection.

OBJECTIVETo assess the value of suspension array technology (SAT) for the genetic diagnosis of non-syndromic hearing loss (NSHL).

METHODSThree hundred and sixteen NSHL patients were simultaneously tested by SAT targeting 20 hotspot mutations within 4 common pathologic genes among the Chinese population as well as 9 deafness gene mutation detection kits. The results of the two approaches were validated by Sanger sequencing.

RESULTSAmong the 316 patients, 161 were found to carry a mutation by SAT. Sixty five patients have carried homozygous or compound heterozygous mutations, which yielded a mutation rate of 50.9% and a diagnostic rate of 21.2%. Seventy three patients were found to be carriers by the 9 deafness gene mutation detection kits. These included 34 patients carrying homozygous or compound heterozygous mutations, which yielded a mutation rate of 23.1% and diagnostic rate of 11.4%. Above results were consistent with those of Sanger sequencing.

CONCLUSIONSAT is a simple, rapid and accurate method featuring high detection rate for common mutations related to deafness among the Chinese population and has provided an effective means of genetic testing for hereditary deafness.

Objective To study the clinical features and risk factors of acute pulmonary reperfusion injury after operation in neonates with severe pulmonary stenosis or pulmonary atresia.Method From February 2014 to February 2018,a retrospective analysis was performed in patients with critical pulmonary stenosis or pulmonary atresia who received percutaneous balloon pulmonary valvuloplasty (PBPV) in the neonatal intensive care unit of our hospital.Clinical characteristics,perioperative cardiac structure,hemodynamic data and biochemical results were collected.The neonates were assigned into injury group if they had acute lung reperfusion injury,and non-injury group if not.The risk factors of acute lung reperfusion injury were analyzed using multi-variate Logistic regression model.Result A total of 32 patients (24 prenatal diagnosis and 8 postnatal diagnosis) with severe pulmonary stenosis or pulmonary atresia with intact ventricular septum were enrolled.The main manifestations were dyspnea and cyanosis.Intravenous prostaglandin E was administered to keep the ductus arteriosus open.The age of operation ranged from 1 to 52 days and the median age was 7.5 days.Postoperative acute lung reperfusion injury occurred in 7 cases (21.9％).Preoperative and intraoperative pulmonary valve annulus diameter,balloon diameter,preoperative hemoglobin,hematocrit and blood albumin were significantly lower in the injury group.The operation duration,total length of hospital stay and postoperative duration were longer than in the non-injury group,the differences were statistically significant (P ＜ 0.05).Multi-variate Logistic regression analysis showed that the diameter of pulmonary valve annulus (OR =5.814,95％CI 1.106 ～30.568),preoperative blood albumin (OR =1.361,95％ CI 1.063 ～ 1.742),and hematocrit (OR =1.173,95％ CI 1.010 ～ 1.363) were risk factors of acute lung reperfusion injury,with statistically significant differences (P ＜ 0.05).Conclusion Acute lung reperfusion injury is one of the common complications after the operation of severe pulmonary stenosis or pulmonary atresia.The severity of pulmonary valve annulus stenosis,preoperative hematocrit and blood albumin level may be the risk factors of postoperative acute lung reperfusion injury.

Objective To discuss the clinical application of percutaneous radiologic gastrostomy (PRG) in treating dysphagia associated with amyotrophic lateral sclerosis (ALS),and to evaluate its safety and improvement effect on patient's nutritional status in ALS patients with pulmonary insufficiency.Methods The clinical data of 51 ALS patients who received PRG were retrospectively analyzed.The success rate of surgery and postoperative complications were recorded.All patients were regularly followed up,and the longterm complications as well as the one-,3-and 6-month mortality rates after the surgery were documented.The improvement of patient's nutritional status was evaluated.Results PRG was successfully accomplished in all 51 patients,the technical success rate was 100％.Mild postoperative complications occurred in 7 patients (13.73％) and severe massive hemorrhage in one patient (2.0％).After PRG,no signs or symptoms of impaired respiratory function were observed.No death occurred in one month and in 3 months after PRG.Six months after PRG,three patients died(6.8 ％,3/44).One month after PRG,31 patients had an increase in body weight of more than 1 kg,and the mean BMI was increased from preoperative t8.60±2.14 to postoperative 19.27±1.81 (one month after PRG),19.17±1.93 (3 month after PRG) and 18.89±2.33 (6 month after PRG).Conclusion For the performance of PRG no gastroscopy or anesthesia is needed,thus,the risk of aspiration asphyxia can be reduced in ALS patients complicated by pulmonary insufficiency and the success rate as well as the safety can be improved.Therefore,this technique is an effective means to ensure that the ALS patients with pulmonary insufficiency can get adequate energy intake to improve their nutritional status.

Objective To investigate the application value of fetal umbilical cord blood hemoglobin analysis in the prenatal diag ‐nosis of thalassemia .Methods 113 couples were the carriers of the same gene type of thalassemia ,moreover the females were in the pregnant period of 24 - 30 pregnant weeks and performed the prenatal diagnosis .The fetal umbilical cord blood hemoglobin compo‐nents were analyzed by the full automatic capillary electrophoresis technique ,meanwhile the fetal thalassemia gene was detected .Re‐sults Among 113 fetuses ,the umbilical cord blood HbBart′s level in 11 cases of severe α thalassemia was 85 .0% - 95 .5% ,which in 9 cases of intermediate type α thalassemia was 22 .0% - 39 .5% ;the umbilical cord blood HbA level in 6 cases of severe β thalas‐semia was 0% - 0 .4% ,which in 17 cases of light type β thalassemia was 2 .1% - 12 .5% .Conclusion The fetal umbilical cord blood hemoglobin analysis could be used for rapid prenatal diagnosis of severe α ,β and intermediate type α thalassemia ,which can serve as a supplementary method for the prenatal diagnosis of thalassemia .

OBJECTIVETo establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.

METHODSFor each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia.

RESULTSA screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5.24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligozoospermic group, and 2.23% of the asthenospermia group.

CONCLUSIONAn accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.

Adult ; Azoospermia ; genetics ; Capillary Action ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; Male ; Multiplex Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; diagnosis

Objective To systematically assess the efficacy of memantine on moderate to severe Alzheimer's disease (AD).Methods With the evaluation method of the Cochrane system,searches were made in the Cochrane Library,MEDLINE,Embase,Forest Laboratories,CNKI,Wanfang Data,and VIP Data up to February 2013 for double blind,randomized,and placebo-controlled trials (RCTs) evaluating the efficacy of memantine for moderate to severe AD.A meta-analysis of included clinical trials was conducted using the Revman 5.2 software to evaluate the efficacy of memantine on overall clinical status,cognitive function activities of daily living,and behavioral and psychological disturbances.Results A total of 8 RCTs were included (2 527 patients with moderate to severe AD).Results of the meta-analysis showed that,for patients with moderate to severe AD,memantine had better efficacy than placebo on overall clinical status,cognitive function,and activities of daily living (MD=-0.24,95％CI:0.340.15;SMD=-0.26,95％CI:-0.340.18;SMD=-0.13,95％CI:-0.21-0.05),but there was no significant difference in efficacy on behavioral and psychological function between memantine and placebo (P =0.08).Analysis of subgroups showed that memantine had better efficacy than placebo on cognitive function in moderate AD patients (SMD =-0.22,95％CI:-0.37 0.06) and on overall clinical status,cognitive function,and activities of daily living in severe AD patients (MD-0.29,95％CI:-0.40 0.18;SMD=-0.31,95％CI:0.46-0.15;SMD=-0.16,95％ CI:-0.25 0.06;MD=-3.13,95％ CI:-4.88-1.39;respectively).Conclusions Memantine has efficacy on overall clinical status,cognitive function and activities of daily living in patients with moderate to severe AD,especially in patients with severe AD.