Objective:To explore the characteristics of a fetus with chromosome 1p36 deletion syndrome and 3p26.3p25.2 duplication.Methods:A pregnant woman who had attended the Genetic Counseling Clinic of Linyi People′s Hospital on February 22, 2022 and her fetus were selected as the study subjects. Clinical data were collected. Chromosomal karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were carried out for the prenatal diagnosis. Result:Ultrasonography at 24th gestational week revealed that the fetus had ventricular septal defect, single umbilical artery, and slight widening of left lateral ventricle (12 mm). The woman was found to have a karyotype of 46, XX, t(1; 3)(p36.22; p25.2), and the result of FISH was t(1; 3)(3pter+, 1qter+ ; 1pter+, 3qter+ ). The fetus was found to have a karyotype of 46, X?, add(1)(p36), and CMA confirmed that it has a 9.0 Mb deletion at 1p36.33p36.22 and a 12.6 Mb duplication at 3p26.3p25.2. Combining the maternal karyotype, the molecular karyotype of the fetus was determined as 46, X?, der(1)t(1; 3)(p36.22; p25.2)mat.arr[hg19]1p36.33p36.22(849467_9882666)×1, 3p26.3p25.2(61892_12699607)×3, with the former known to be associated with 1p36 deletion syndrome.Conclusion:The fetus was diagnosed with 1p36 deletion syndrome, and its 1p36.33p36.22 deletion and 3p26.3p25.2 duplication had both derived from the balanced translocation carried by its mother.

Objective:To explore the application value of histogram and texture feature analysis based on CT images in distinguishing long bone osteosarcoma (OS) from Ewing sarcoma (ES).Methods:A retrospective collection of 25 patients with long bone osteosarcoma and 25 patients with Ewing sarcoma confirmed by surgery and pathology in National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Qilu Hospital of Shandong University and Nanjing Drum Tower Hospital, Nanjing University Medical School, from March 2018 to May 2023 was conducted. All patients were randomly divided into a training set (21 cases of OS and 19 cases of ES) and a validation set (4 cases of OS and 6 cases of ES) in an 8∶2 ratio. The region of interest (ROI) on CT images to extract texture feature parameters was manually sketched. Random forest and least absolute shrinkage and selection operator (LASSO) algorithm were used for feature screening. Logistic regression (LR), random forest (RF), support vector machine (SVM) and K-nearest neighbor (KNN) classifiers were used to establish models respectively. Receiver operating characteristic (ROC)curve was drawn and area under the curve (AUC) was calculated to evaluate the diagnostic efficiency of the four models.Results:A total of 100 texture parameters were extracted from CT images, and 8 feature parameters (maximum 3D diameter, 10th percentile, kurtosis, maximum pixel intensity value, inverse normalization, grayscale level variance, long range high grayscale emphasis, and low grayscale area emphasis) were obtained through screening. Four classifiers were used to establish models, and the AUC values of the four models (LR, RF, SVM, KNN) in the validation group were 0.92, 0.79, 0.83, and 0.73, respectively. LR and SVM classifier algorithm trains models had high diagnostic efficiency, with an accuracy of 90%, sensitivity of 83%, specificity of 100%, and AUC of 92% for the LR classifier validation set; the accuracy of SVM classifier validation set was 80%, sensitivity was 67%, specificity was 100%, and AUC was 83%.Conclusions:LR and SVM models have high value in distinguishing OS and ES.

Objective To observe the functional recovery situation after prostate cancer radical opera-tion with maximal preservation of the periprostatic structures (MS-RARP).Methods Sixty-seven patients with localized prostatic cancer undergoing MS-RARP in the Second Affiliated Hospital of Army Military Med-ical University from June 2019 to June 2022 were selected as the study subjects.The changes of urinary con-trol function,erection function,quality of life and total prostate specific antigen (t-PSA) were compared at the time between before operation and postoperative 6 weeks,3 months,6 months,12 months.The expanded pros-tate cancer index composite index (EPIC-50) was used to evaluate the urinary control function,the interna-tional index of erectile function (IIEF-5) questionnaire was used to evaluate the erection function of the pa-tients,and EPIC-50 and the american urological associated symptom score rating scale (AUA-SS) were used to evaluate the life satisfaction of the patients.Results The urinary control function recovery rate,erection function recovery rate and life quality satisfaction rate in postoperative 6 weeks,3 months,6 months,12 months were 71.8％,95.5％,97.3％ and 98.1％;31.7％,38.1％,41.3％ and 44.4％;38.9％,83.6％,88.1％ and 97.0％,respectively.The median t-PSA was gradually decreased,which were 0.026(0.010,0.410),0.009 (0.003,0.060),0.006(0.001,0.050)and 0.004(0.001,0.006)ng/mL,respectively.The life quality satisfac-tion rates at various postoperative time points were significantly increased when compared with before opera-tion (P<0.05).t-PSA was significantly decreased compared with before operation (P<0.05).Conclusion RARP could protect the postoperative urinary function and sexual function,and increase the postoperative life quality of the patients.

【Objective】 To evaluate the safety and efficacy of long-term indwelling of Allium ureteral stent in the treatment of ureteral stricture. 【Methods】 The clinical data of patients who underwent endoscopic Allium ureteral stent implantation for ureteral stricture in our hospital during Aug.2020 and Dec.2022 were retrospectively analyzed, and the surgical conditions and adverse events were recorded. The data of serum creatinine, blood urea nitrogen, glomerular filtration rate (GFR) and renal pelvis width under ultrasound were compared before surgery and 1, 3, 6 and 12 months after surgery. 【Results】 A total of 52 patients with ureteral stricture of 1.1 (0.7, 2.0)cm were included. All operations were successful. The operation time was 82.5 (70, 114)min, intraoperative blood loss 20 (10, 20)mL, and postoperative hospitalization stay 1 (1, 2) day. During the follow-up of (13.2±7.8) months, 14 patients had stent displacement, 5 had stone obstruction of stent tubes, 7 had occasional hematuria after movement, 9 had intermittent lumbar and abdominal pain, and 1 had recurrent urinary tract infection. The serum creatinine, blood urea nitrogen and renal pelvis width of 1 month, 3, 6 and 12 months after surgery were significantly decreased, while GFR was significantly increased. 【Conclusion】 Long-term indwelling of Allium ureteral stent is effective in the treatment of ureteral stricture, but the high incidence of stent displacement should arouse attention.

OBJECTIVE: To explore the laboratory phenotype and molecular pathogenesis in a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. METHODS: A male proband admitted to Ningbo No.2 Hospital on July 17, 2021 due to chronic gastritis and members of his pedigree (7 individuals from three generations) were selected as the study subjects. Prothrombin time (PT), activated partial thromboplastin time (APTT), FⅧ activity (FⅧ: C), FⅨ activity (FⅨ: C), FⅪ activity (FⅪ: C), FⅫ activity (FⅫ: C), and FⅫ antigen (FⅫ: Ag) were determined. All of the exons, exon-intronic boundaries, as well as the 5'- and 3'-untranslated regions of the F12 gene were subjected to Sanger sequencing. Candidate variants were verified by cloning sequencing. The effect of candidate variants on the protein function was analyzed by bioinformatics software. RESULTS: The proband, a 47-year-old male, had significantly prolonged APTT (180.0 s) and decreased FⅫ:C and FⅫ:Ag levels (< 1%). His father, mother, brother and two sons also showed certain degrees of reduction. Genetic testing revealed that the proband has harbored compound heterozygous variants of the F12 gene, namely c.1092_1093insC (p.Lys365Glnfs*69) in exon 10 and c.1792_1796delGTCTA (p.Val579Hisfs*32) in exon 14. His mother and elder son were heterozygous for the c.1092_1093ins variant, whilst his father, brother, and younger son were heterozygous for the c.1792_1796delGTCTA variant. Analysis of the promoter region of exon 1 also showed that the proband and both sons had harbored a 46T/T polymorphism, whilst other family members were 46C/T. Bioinformatic analysis suggested that the p.Val579 is a highly conserved site. Protein model analysis showed that, with the p.Val579Hisfs*32 variant, a benzene ring was added and the hydrogen bond of surrounding amino acids was changed. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1792_1796delGTCTA was classified as a pathogenic variant (PVS1+PM2_Supporting+PM4). CONCLUSION The c.1092_1093insC (p.Lys365Glnfs*69) and c.1792_1796delGTCTA (p.Val579Hisfs*32) compound heterozygous variants of the F12 gene probably underlay the decreased FXII levels in this pedigree. Above finding has also enriched the mutational spectrum for FⅫ deficiency.
Male ; Humans ; Aged ; Middle Aged ; Pedigree ; East Asian People ; Exons ; Introns ; Family ; Factor XII Deficiency/genetics* ; 3' Untranslated Regions ; Factor XII/genetics*

OBJECTIVE: To explore the genetic characteristics of a child with mosaicism Turner syndrome. METHODS: A child who had presented at Linyi People's Hospital on May 19, 2022 due to short stature was selected as the study subject. The child was subjected to combined chromosomal karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). RESULTS: The child was found to have a 46,X,i(X)(q10)[94]/45,X[6] karyotype. The result of FISH was nucish(XYpter,XYqter)1[78]/(XYpter)1,(XYqter)3[122]. CMA result for her peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)×1, and that for her oral mucosal cells was arr[hg19]Xp22.33p11.1(168551_58526888)1-2,Xq11.2q28(63000001_155233098)×2-3. By integrating the above findings, her molecular karyotype was determined as mos 46,X,i(X)(q10)[94]/45,X[6].arr[hg19]Xp22.33p11.1(168551_58526888)×1-2,Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1,(XYqter)3[122]/(XYpter,XYqter)1[78], which has indicated mosaicism Turner syndrome. CONCLUSION The 46,X,i(X)(q10)/45,X mosaicism probably underlay the pathogenesis in this child.
Humans ; Child ; Female ; Turner Syndrome/genetics* ; Mosaicism ; In Situ Hybridization, Fluorescence ; Karyotyping ; Karyotype

Objective To explore the clinical efficacy of using rituximab and atoxiban in the treatment of cervical incompetence after emergency cervical cerclage surgery.Methods Sixty patients with cervical incompetence admitted from May 2020 to February 2022 were selected as the study subjects.Divide into control group A,control group B,and trial group C using random number table method,with 20 cases in each group.All three groups underwent emergency cervical cerclage surgery.After the surgical treatment,control group A received treatment with rituximab hydrochloride,control group B received treatment with atoxiban,and experimental group C received treatment with atoxiban on the basis of rituximab hydrochloride.Analyze and compare the inhibitory effects of uterine contractions,incidence of adverse reactions,and neonatal outcomes among three groups.Results The inhibition rate of uterine contractions in control group A and test group C was higher than that in control group B(P<0.05);The incidence of postoperative complications in experimental group C was lower than that in control group A and control group B,with a statistically significant difference(P<0.05);Compared with control group A and control group B,the incidence of fetal loss,neonatal asphyxia,and low birth weight infant outcomes in experimental group C was not statistically significant(P>0.05).Compared with control group A and control group B,experimental group C had a longer gestational week extension and a higher Apgar score for newborns,with statistically significant differences(P<0.05).Conclusion The combination treatment of rituximab and atoxiban after emergency cervical cerclage surgery for this disease has good effects,can better inhibit uterine contractions,appropriately prolong gestational age,improve neonatal outcomes and prognosis,and reduce adverse drug reactions in pregnant women.

Objective:To investigate the efficacy and safety of recombinant tissue plasminogen activator (rt-PA) intravenous thrombolysis combined with edaravone dexborneol at different timing in super elderly patients (aged≥85 years) with moderate to severe acute ischemic stroke (AIS).Methods:A prospective study was performed. Seventy-one super elderly patients with moderate to severe AIS treated with rt-PA intravenous thrombolysis combined with edaravone dexborneol from December 2020 to March 2023 in Department of Neurology, Affiliated Fourth Central Hospital of Nankai University were selected and randomly divided into early group ( n=35) and advanced group ( n=36); patients in the early group were given edaravone dexborneol immediately after rt-PA intravenous thrombolysis, and patients in the advanced group were given edaravone dexborneol 24 h after rt-PA intravenous thrombolysis. In addition, 31 patients with moderate to severe AIS received rt-PA intravenous thrombolysis only in Department of Neurology of the hospital from August 2018 to December 2020 were selected as control group. Differences in efficacy and safety indexes among the 3 groups were compared. Results:After 7 d of treatment, the improvement rate of neurological function in early group was significantly higher than that in control group and advanced group ( P<0.05). After 90 d of treatment, modified Rankin scale (mRS) scores in early group were statistically lower than those in control group and advanced group ( P<0.05); good prognosis rate in early group was statistically higher than that in control group and advanced group ( P<0.05). The incidences of intracranial hemorrhage and symptomatic intracranial hemorrhage in early group were significantly lower than those in control group and advanced group ( P<0.05). After 30 and 90 d of treatment, the advanced group had significantly lower mortality than the control group, but significantly higher mortality than the early group ( P<0.05). Conclusion:Edaravone dexborneol immediately after rt-PA intravenous thrombolysis is the optimal timing for super elderly patients with moderate to severe AIS, which can improve the efficacy and safety.

ObjectiveTo explore the prevalence rate and related risk factors of anxiety， depression and insomnia symptoms in close contacts of COVID-19 patients undergoing centralized quarantine and observation， so as to provide references for follow-up targeted psychological crisis intervention. MethodsFrom February 6 to 8， 2020， a total of 136 close contacts at designated quarantine sites in four districts and counties of Ya'an city were enrolled， and assessed using the general information questionnaire， Hospital Anxiety and Depression Scale （HAD） and Insomnia Severity Index （ISI）. ResultsA total of 26 quarantined individuals （19.12%） had various degrees of anxiety， depression or insomnia， including 16 cases （11.76%） with anxiety， 9 cases （6.62%） with depression and 16 cases （11.76%） with insomnia. Correlation analysis showed that HAD （A） score was positively correlated with HAD （D） score （r=0.642， P<0.01）. HAD （A） score was positively correlated with ISI score （r=0.590， P<0.01）. HAD （D） score was positively correlated with ISI score （r=0.329， P<0.01）. Multivariate Logistic regression analysis showed that the risk factor of anxiety was the first week of isolation （OR=3.290， P<0.05）， meantime， the risk factors of insomnia included the old age （OR=7.990， P<0.05） and the first week of isolation （OR=4.659， P<0.05）. ConclusionThe close contacts of COVID-19 infections undergoing centralized quarantine and observation in Ya’an have high prevalence rate of anxiety and insomnia， and the symptoms are most severe during the first week of quarantine.

Objective:To observe the clinical features of uveal metastases from lung carcinoma.Methods:A retrospective case study. From 1983 to 2014, 14 patients with uveal metastases of lung cancer confirmed by ocular examination in Peking Union Medical College Hospital were included in the study. Among them, 7 were male, 7 were female; 11 were monocular and 3 were binocular. The mean age was 54.5±9.6 years. Pathologic examination showed primary bronchial lung cancer, including 13 patients of non-small cell lung cancer (10, 2 and 1 patients of lung adenocarcinoma, squamous cell carcinoma and adenosquamous cell carcinoma, respectively) and 1 patient of small cell lung cancer. Four patients (28.6%) were diagnosed with lung cancer before ophthalmology consultation, and 10 patients (71.4%) were first diagnosed with ophthalmology due to ocular symptoms. The duration from ocular symptoms to lung cancer diagnosis was 1 week to 6 months. The course from diagnosis of lung cancer to ophthalmological consultation was ranged from 10 to 60 months, and the average course was 29.5±19.0 months. There were 7, 4 and 3 patients with impaired vision, occlusion of visual objects and deformation of visual objects, respectively. All patients underwent visual acuity, slit lamp microscope, B-mode ultrasound and UBM examinations. FFA was performed in 8 eyes, and 2 eyes were examined for ICGA. Orbital MRI was performed in 5 patients. Vitreoretinal surgery was performed on 1 eye. The clinical characteristics of the patients were analyzed and observed.Results:In 17 eyes, there were 2 eyes with visual acuity of light perception, 3 eyes of hand movement to counting finger before the eyes, 5 eyes of 0.1- 0.3, 4 eyes of 0.4-0.6, 3 eyes of greater than 0.8. Metastatic cancer was located in iris in 1 eye, it presents as a red mass with irregular shape on the surface, which is full of small nourishing blood vessels. Metastatic cancer were located in choroid in 16 eyes, they presented yellowish-white or grayish-yellow lumps under the posterior pole or equatorial retina, including 14 eyes with a single lesion and 2 eyes with 2 lesions, with retinal detachment in 8 eyes and increased intraocular pressure in 5 eyes. B-mode ultrasonography showed posterior polar flat or surface irregular wavy intraocular space occupying lesions with localized or extensive retinal detachment. FFA and ICGA showed the focal, apical and patchy fluorescence of the tumor. MRI showed that T 1WI medium and high signal consistent with the vitreous body, while T 2WI showed low signal. Conclusions:Uveal metastatic may be the first manifestation of lung cancer, and visual impairment, part of solid mass lesions with fundus flattening may be accompanied by secondary glaucoma and retinal detachment as the main clinical manifestations. Most of the metastatic sites are located in choroid, which is more common in single eye and single lesion. Adenocarcinoma is the most common type of uveal metastasis in non-small cell lung cancer.