OBJECTIVE: To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis. METHODS: A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01). RESULTS: Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47,XX,+21[1]/46,XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells. CONCLUSION In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.
Humans ; Female ; Mosaicism ; Pregnancy ; Uniparental Disomy/diagnosis* ; Adult ; Down Syndrome/diagnosis* ; Prenatal Diagnosis/methods* ; Diploidy ; Karyotyping ; Amniocentesis

Objective:To analyze the factors influencing dysphagia after an injury to the cervical spinal cord (CPCI) to provide a basis for clinical screening and intervention.Methods:A total of 110 CPCI patients with dysphagia were divided into a severe dysphagia group ( n=19), a mild dysphagia group ( n=35), and a control group ( n=56) according to their functional oral intake scale scores. Data on gender, age, level of injury, degree of damage, duration of injury, causes of injury, surgical mode, tracheotomy status, occurrence of pneumonia and pharynx swelling were collected. Univariate and multivariate logistic regressions were evaluated to identify factors affecting swallowing. Results:The regressions highlighted age, the severity of the spinal cord injury, tracheotomy status, and the occurrence of pneumonia and pharyngeal swelling during hospitalization as the best predictors of swallowing difficulties. Multifactoral logistic regression analysis revealed that undergoing tracheotomy and catching pneumonia during hospitalization were major risk factors for severe dysphagia.Conclusions:Tracheotomy and pneumonia during hospitalization are useful predictors of severe dysphagia after a cervical spinal cord injury.

BACKGROUND: LY01005 (Goserelin acetate sustained-release microsphere injection) is a modified gonadotropin-releasing hormone (GnRH) agonist injected monthly. This phase III trial study aimed to evaluated the efficacy and safety of LY01005 in Chinese patients with prostate cancer. METHODS: We conducted a randomized controlled, open-label, non-inferiority trial across 49 sites in China. This study included 290 patients with prostate cancer who received either LY01005 or goserelin implants every 28 days for three injections. The primary efficacy endpoints were the percentage of patients with testosterone suppression ≤50 ng/dL at day 29 and the cumulative probability of testosterone ≤50 ng/dL from day 29 to 85. Non-inferiority was prespecified at a margin of -10%. Secondary endpoints included significant castration (≤20 ng/dL), testosterone surge within 72 h following repeated dosing, and changes in luteinizing hormone, follicle-stimulating hormone, and prostate specific antigen levels. RESULTS: On day 29, in the LY01005 and goserelin implant groups, testosterone concentrations fell below medical-castration levels in 99.3% (142/143) and 100% (140/140) of patients, respectively, with a difference of -0.7% (95% confidence interval [CI], -3.9% to 2.0%) between the two groups. The cumulative probabilities of maintaining castration from days 29 to 85 were 99.3% and 97.8%, respectively, with a between-group difference of 1.5% (95% CI, -1.3% to 4.4%). Both results met the criterion for non-inferiority. Secondary endpoints were similar between groups. Both treatments were well-tolerated. LY01005 was associated with fewer injection-site reactions than the goserelin implant (0% vs . 1.4% [2/145]). CONCLUSION: LY01005 is as effective as goserelin implants in reducing testosterone to castration levels, with a similar safety profile. TRIAL REGISTRATION ClinicalTrials.gov, NCT04563936.
Humans ; Male ; Antineoplastic Agents, Hormonal/therapeutic use* ; East Asian People ; Gonadotropin-Releasing Hormone/agonists* ; Goserelin/therapeutic use* ; Prostate-Specific Antigen ; Prostatic Neoplasms/drug therapy* ; Testosterone

Objective:To explore the diagnostic value of quantitative 99Tc m-hydrazinonicotinamide(HYNIC)-prostate specific membrane antigen (PSMA) SPECT/CT in patients with prostate cancer. Methods:From November 2018 to March 2021, the data of 56 patients ((69.8±8.0) years) with clinically suspected prostate cancer, who had elevated radioactive uptake in prostate on 99Tc m-HYNIC-PSMA SPECT/CT images in Henan Provincial People′s Hospital, were retrospectively analyzed. According to the pathological results, patients were divided into prostate cancer group ( n=45) and non-prostate cancer group ( n=11). The xSPECT-QUANT software was used to quantitatively analyze the high uptake area of the prostate, and SUV max was measured. The independent-sample t test, Mann-Whitney U test, ROC curve and Spearman correlation analysis were used for data analysis. Results:The prostate cancer group had higher SUV max than non-prostate cancer group (10.79±5.96 vs 3.60±1.27; t=7.43, P<0.001). When SUV max≥6.46, the AUC of prostate cancer was 0.887, with the diagnostic sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy of 73.3%(33/45), 11/11, 100%(33/33), 47.8%(11/23), 78.6%(44/56), respectively. The SUV max of prostate cancer group was positively correlated with Gleason score ( rs=0.632, P<0.001). The SUV max of 29 patients with Gleason score≥8 was higher than that of 16 patients with Gleason score≤7 ( z=-3.89, P<0.001). There was no statistical difference in PSA level between patients with Gleason score≤ 7 and patients with non-prostate cancer ( z=-1.63, P=0.110), but the SUV max was significantly different ( z=-2.22, P=0.026). The SUV max of 23 patients with metastases was higher than that of 22 patients without metastasis (12.99±5.85 vs 8.50±5.28; t=2.69, P=0.010). ROC analysis showed that the AUC was 0.709; with SUV max≥13.02 as the threshold, the sensitivity for diagnosing prostate cancer metastases was 56.5%(13/23), the specificity was 86.4%(19/22), and the accuracy was 71.1%(32/45). Conclusions:The 99Tc m-HYNIC-PSMA SPECT/CT quantitative analysis is feasible in patients with prostate cancer. SUV max of 99Tc m-HYNIC-PSMA can be used in the diagnosis of prostate cancer, assessment of the malignancy and prediction of metastasis.

Objective To study the clinical value of retroperitoneoscope-assisted intraperitoneal approach in the treatment of large renal tumors.Methods A total of 89 patients with large renal tumors (d ＞7 cm) were involved from January 2014 to December 2017.Among them,32 cases were treated by retroperitoneoscope-assisted intraperitoneal approach (group A),including 18 males and 14 females,aged (63.5±7.5)years,with 20 cases on the left and 12 on the right,and mean tumor diameter of (7.9 ± 0.6).Thirty cases were treated by laparoscopy (group B),including 17 males and 13 females,aged (64.5 ±7.3)years,with 16 cases on the left and 14 cases on the right,and the average tumor diameter of (7.6 ±0.7) cm.Twenty-seven cases underwent open surgery (C group),including 15 males and 12 females,aged (64.9 ±5.7) years,with 13 cases on the left side and 14 cases on the right,and the average tumor diameter of (7.9 ±0.6) cm.There was no statistically significant difference among the three groups in term of demographics (P ＞ 0.05).The clinical data was collected and statistical analysis was made for comparison among the three groups,including operation time,blood loss,surgical complications,postoperative intestinal recovery and postoperative hospital stay.All the patients were with single renal tumor,and no other major comorbidities were found.Results All of the 89 surgeries were successful.Hypercapnia was found in 2 cases (6.3％) in Group A,and recoverd 15 minutes after stopping pneumoperitoneum and anesthesia.The operation time was 120-200 minutes with an average of (155.0 ± 22.1) minutes.The average amount of bleeding was (141.6 ± 33.8) ml.Bowel recovered 3 (3-5) days after operation.The patients were hospitalized for 7 (7-9) days.In group B,hypercapnia was found in 2 patients (6.7％) and recoverd after stopping pneumoperitoneum and anesthesia.The time of operation was (184.2 ± 20.6) min,the amount of bleeding was (191.5 ± 46.2) ml,the bowel recovered 4 (4-6) days after operation,and the postoperative hospitalization duration was 7.5 (6-9) days.The operation time of group C was (54.0 ± 16.6) min,blood loss was (309.6 ± 50.2) ml,postoperative intestinal recovery was 5 (4-6)days,and the postoperative hospitalization time was 8 (7-12)days.Group A had less operation time than Group B(P ＜0.05),and no difference with Group C(P ＞0.05).Group A had advantages in term of blood loss and postoperative intestinal recovery time compared with B and C (P ＜ 0.05).Groups A and B had no difference in term of surgical complications and postoperative hospital stay (P ＞ 0.05),but both of the two groups had obvious advantages over group C (P ＜ 0.05).Conclusions Retroperitoneoscopeassisted intraperitoneal approach is the synergetic application of two endoscopic approaches,which is superior to any single operation for the treatment of large renal tumor,such as less bleeding,shorter operation time,faster postoperative recovery,and so on.This method not only reduces the difficulty of operation,provides an alternative for laparoscopic treatment of large renal tumors,but also has a good application for complex renal tumors complicated with renal vein and inferior vena cava tumor thrombus.

Objective To investigate the risk factors for influencing recrudescence after endovascular embolization of posterior communicating artery aneurysms.Methods From January 2014 to December 2014,71 consecutive patients (a total of 74 aneurysms) with posterior communicating artery aneurysm treated with endovascular treatment at the Department of Neurosurgery,Yijishan Hosptial of Wannan Medical College were enrolled retrospectively.The aneurysms were calculated as the number of cases (n=74).The aneurysms were divided into two groups according to whether they had recrudescence or not,including recurrent group (n=18) and non-recurrent group (n=56).The differences of the clinical data and aneurysm characteristics between the two groups were compared.Multivariate logistic regression was used to analyze the risk factors for recrudescence after endovascular embolization of posterior communicating artery aneurysms.Results Of the 74 patients with aneurysm,51 were treated with simple coil embolization and 23 were treated with stent-assisted coil embolization.All the coils were released satisfactorily.There were significant difference in the size of aneurysms and Raymond grade between the two groups (all P<0.01).The incidence of aneurysms with daughter cysts (55.6% [10/18] and the rate of non-stent-assisted coil embolization (88.9% [16/18]) in the recurrent group were significantly higher than those in the non-recurrent group (23.2% [13/56],62.5% [35/56]).The difference between the two groups was statistically significant (all P<0.05).There was no significant difference in other aneurysm features between the two groups (all P>0.05).After variable selection,the Raymond grade was referred to Raymond gradeⅠ.Multivariate logistic regression analysis showed that the non-stent-assisted coil embolization (OR,4.789,95%CI 1.207-19.009,P=0.026),Raymond grade Ⅱ (OR,12.326,95%CI 3.838-39.592,P<0.01),Raymond grade Ⅲ (OR,36.884,95%CI 2.892-470.454,P=0.005) were the independent risk factors for recrudescence after embolization of posterior communicating artery aneurysms.Conclusion Non-stent-assisted coil embolization,Raymond Ⅱ and Ⅲ may cause recrudescence of posterior communicating artery aneurysms.

Objective To investigate the feasibility and effectiveness of endovascular treatment of posterior communicating artery aneurysm (PcoAA)in keeping the fetal posterior cerebral artery (FPCA) patency. Methods Form January 2014 to December 2015,14 patients with ruptured PcoAA enrolled retrospectively were treated with endovascular embolization. Six of them were treated with simple coil embolization,3 with stent-assisted coil embolization,3 with double catheter-assisted coil embolization,1 with stent-assisted coil embolization + double catheter technique,and 1 with Y-stent in Yijishan Hospital, Wannan Medical College. The immediate embolization rate of PcoAA (using Raymond grade),prognosis of the patients (the modified Rankin scale score at 6 months after procedure),complications,and imaging follow-up results were analyzed. Results The success rate of coil and stenting was 100% . All the stents were accurately released in place without displacement. The immediate Raymond grading of the aneurysms displayed that Raymond grade Ⅰ was in 8 cases,Raymond grade Ⅱ was in 4 cases,and Raymond grade Ⅲ was in 2 cases. All FPCA were kept patent. A coil protruded into internal carotid artery in one case during the procedure. Others did not have any complications,such as intraoperative cerebral vasospasm,in-stent thrombosis,and rupture. All 14 patients were followed up for 3 -24 months after procedure. Two had recurrence. Both were aneurysms embolized with coils only. No rebleeding and ischemic
complications were observed. The modified Rankin scale scores in 13 cases were 0 -2 at 6 months after procedure,1 was 4. Conclusions Endovascular embolization for the treatment of PcoAA and keeping FPCA patency are safe and feasible. A variety of endovascular treatment modalities are necessary in order to keep FPCA patency.

Objective To evaluate the efficacy and safety of desloratadine citrate disodium versus epinastine for the treatment of chronic urticaria (CU).Methods A randomized,double-blind,double-dummy controlled clinical trial was conducted.Patients with CU were divided into test group and control group to be treated by oral desloratadine citrate disodium (8.8 mg/d) and epinastine (10 mg/d) respectively once a day for 28 days.All the patients were followed up after starting treatment.Therapeutic effect was evaluated,and adverse reactions were observed.Results One hundred and fifty-seven patients were enrolled in this study,and 142 patients were valid for evaluation of efficacy and safety at the end of study.After treatment for 28 days,there was no significant difference between the test group and control group in response rate (81.16 ％ vs.78.08 ％,P ＞ 0.05) or incidence rate of adverse reactions (13.89 ％ vs.12.16 ％,P＞ 0.05).Conclusion Desloratadine citrate disodium is effective and safe for the treatment of CU.

Objective To investigate the effect of endovascular treatment of intracranial ruptured vertebral artery dissecting aneurysms via bilateral vertebral artery approach. Methods The symptoms and imaging results of 5 patients with ruptured vertebral artery dissecting aneurysms were analyzed retrospectively. They were all treated with coil embolization via bilateral vertebral artery approach. The two ends of dissection aneurysms were packed densely,the middle segments were packed loosely,and the arteries were isolated from the blood circulation. Results Of the 5 patients after treated,the clinical symptoms were improved rapidly in 4 patients no abnormal limbs activity and mental disorders. After treatment,the modified Rankin scale (mRS)was 0 in four cases after six-month follow-up. One patient turned clear consciousness after 4 weeks, and their mRS was 3 at 6-month follow-up. Before treatment,DSA showed vertebral artery dilation and stenosis. The mean length of involvement in vertebral arteries was 9. 3 ± 1. 5 mm;after treatment,the dissecting aneurysms of 5 patients did not develop completely,no further bleeding occurred,and no new infarcts were observed. No recurrence of the aneurysms and parent artery recanalization were found at the follow-up after 6 months. Conclusion The occlusion of ruptured vertebral artery dissecting aneurysms via bilateral vertebral artery approach is technically feasible. It may be an effective treatment to prevent rebleeding.

Objective To assess the functional restoration in patients with developmental dysplasia of the hip (DDH) who underwent hip resurfacing arthroplasty and to determine whether greater abduction angle of the acetabular component is relat?ed to larger diameter of femoral head component. Methods We reviewed 34 DDH cases (9 hips of 8 males and 25 hips of 24 fe?males, mean age 44.6±11.85 years at the time of surgery) on whom we performed hip resurfacing arthroplasty (HRA) from October 2006 to September 2009. The total hip Arthroplasty (THA) group was consisted of 35 DDH cases (8 hips of 8 males and 27 hips of 25 females, mean age 43.7±10.4 years at the time of surgery). All operations were performed by the same doctor over the same peri?od. Assessment of the functional hip scores was conducted by Harris Hip Scores. A radiographic study was also performed to evalu?ate the implants stability and abduction angle of the acetabular components. All the data was analyzed with Kolmogorov?Smirnov method. Results The mean follow?up was 6.2 years in the HRA group. The Harris Hip Score improved from 54.9±13.2 to 97.3± 6.2 after the surgery. The mean abduction angle of the acetabular component was 51.6° ± 5.33°, hip flexion was 127° ± 6.9° and mean diameter of femoral head was 46.5±1.5 mm. The mean follow?up was 5.9 years in the THA group. The Harris Hip Score im?proved from 51.6±19.7 to 95.6±7.9 after the surgery. The mean abduction angle of the acetabular component was 43.9°±4.90°, hip flexion was 117°±4.2°. There was no failure of the prosthesis, peri?prosthetic fracture and infection in either group. There was sig?nificant difference in the abduction angle of the acetabular component (P<0.05) and flexion of the hip between the two groups (P<0.05). Conclusion Patients in the HRA group had a better functional restoration and larger range of motion. Furthermore, a larger diameter of femoral head component could be achieved by placing the acetabular component in a greater abduction angle, which may contribute to a better long?term stability.