Objective To evaluate the role of 18F fluorodeoxyglucose positron emission tomography computed tomography (PET-CT) in nasopharyngeal carcinoma (NPC) after radiotherapy. Methods A total of 27 NPC patients received 18FDG PET-CT 8-32 weeks after radiotherapy. All the patients were followed up for about 12 months after the examination. Metastasis and residual were evaluated by PET-CT. The correlation between SUV and prognosis was analyzed. Results Of these 27 patients, metastasis was found in 2 patients by PET-CT. Local persistence was diagnosed as for SUV≥2. 5 by PET-CT in 20 patients, among whom 18 were confirmed by biopsy and then received brachytherapy or conformal radiotherapy. One year local control and survival rates were 70% and 81%. Based on SUV, the patients were divided into group one for SUV between 2. 5 and 5(9 patients) or group two for SUV≥5 (11 patients). In group one and group two, the one year local control rate, survival rate and metastasis rate were 67% , 55% (P=0.670) , 64% ,89%(P=0.319), and 22% , 82% (P =0. 022) , respectively. Conclusions PET-CT is valuable for the identification of residual nasopharyngeal carcinoma. SUV of residual tumor is related to metastasis.

Objective The aim of this study was to investigate mutations of 41 STR loci. Methods 4546 bloodstain samples were typed from 1932 father–mother–child trios by using AGCU_21+1, AGCU_EX22 and GlobalFiler_ExpressTM amplification Kit. Calculate the mutation rates of STR loci. Results 154 mutations were identified at 32 of the 41 loci. The average mutation rate was 1.0×10-3per locus(95%CI: 0.8~1.1×10-3), and the mutations of SE33 was highest. 152(98.7%) mutation events were one-step mutation, 2(1.3%) events were two-steps. The mutation events occurred in 150 father–mother–child triplets. The mutations in 146(97.3%) triplets occurred at single locus, 8 mutations were observed at two loci in 4(2.7%) triplets simultaneously. 104 paternal and 22 maternal mutations could be determined under 79212 paternal and maternal allelictransfers. The ratio of paternal versus maternal mutations was 4.7:1, and 28 unassigned mutations were observed. Conclusion STR mutation are common in paternity testing, and we should pay more attention to it.

Objective:To observe the incidence of syncope in patients with acute and critical cardiovascular diseases and to explore the risk factors of death.Methods:925 cases of acute heart failure, acute myocardial infarction, pulmonary embolism, arrhythmia and aortic dissection rupture who participated in Prospective, Multi-CenterRegistered Research Project for Chinese Syncope Patients from March 2018 to March 2020, admitted to the department of emergency of Nanyang Second General Hospital were selected as the research objects. The incidence and mortality of syncope were recorded, and the patients were divided into syncope group and non-syncope group according to whether they were accompanied by syncope or not. The incidence of syncope in male and female patients with different cardiovascular critical diseases, the age and mortality of cardiovascular critical patients with syncope or not were analyzed and compared. Multivariate Logistic regression analysis was used to analyze the risk factors of death, and receiver operating characteristic curve (ROC curve) was drawn to evaluate the predictive value of risk factors on the prognosis of patients.Results:The incidence of syncope in 5 kinds of cardiovascular critical patients from high to low was: acute myocardial infarction 3.03% (28/925), arrhythmia 2.70% (25/925), pulmonary embolism 1.51% (14/925), aortic dissection rupture 1.41% (13/925), acute heart failure 0.65% (6/925), with statistically significant differences ( χ2 = 10.765, P = 0.010). There was no significant difference in the incidence of syncope between male and female patients with pulmonary embolism, aortic dissection rupture, acute myocardial infarction, arrhythmia and acute heart failure. The age of patients with aortic dissection rupture, acute myocardial infarction and arrhythmia in syncope group were significantly higher than those in non-syncope group [aortic dissection rupture (years old): 66.29±15.64 vs. 57.63±14.23, acute myocardial infarction (years old): 69.55±15.13 vs. 62.10±15.75, arrhythmia (years old): 70.48±14.93 vs. 60.29±16.31, all P < 0.05]. The mortality of patients with pulmonary embolism, aortic dissection rupture, acute myocardial infarction, arrhythmia, acute heart failure in syncope group were significantly higher than those in non-syncope group [pulmonary embolism: 5.81% (5/86) vs. 0.95% (8/839), aortic dissection rupture: 4.65% (4/86) vs. 0.60% (5/839), acute myocardial infarction: 4.65% (4/86) vs. 1.19% (10/839), arrhythmia: 2.33% (2/86) vs. 0.95% (8/839), acute heart failure: 2.33% (2/86) vs. 0.60% (5/839), all P < 0.05]. Multivariate Logistic regression analysis showed that age [odds ratio ( OR) = 2.158, 95% confidence interval (95% CI) was 0.921-4.785, P = 0.000], pulmonary embolism ( OR = 15.391, 95% CI was 8.904-27.314, P = 0.001), aortic dissection rupture ( OR = 13.079, 95% CI was 6.237-25.509, P = 0.000), acute myocardial infarction ( OR = 18.826, 95% CI was 10.420-32.921, P = 0.000), syncope ( OR = 4.940, 95% CI was 1.764-9.287, P = 0.000) were risk factors for the prognosis of patients with acute and critical cardiovascular diseases. ROC curve analysis showed that syncope had a certain predictive value for 28-day prognosis of patients [the area under the ROC curve (AUC) = 0.760, P = 0.000], when the cut-off value was 4.12, the sensitivity was 88.51%, the specificity was 78.05%, the positive predictive value was 81.31%, and the negative predictive value was 84.27%. Conclusions:Syncope is an independent risk factor of death in patients with acute and critical cardiovascular diseases. For patients with syncope as the chief complaint, we should quickly identify the types of acute and critical diseases and assess the risk of sudden death.

Objective:To evaluate the effectiveness of syncope unit in improving the diagnosis efficiency and treatment prognosis of patients with suspected syncope.Methods:The standardized syncope unit was established in the Affiliated Nanyang Second General Hospital of Xinxiang Medical College in 2018. Patients with suspected syncope attending from November 2018 to April 2019 (before the establishment of syncope unit) and from May to October 2019 (after the establishment of syncope unit) were enrolled in the study. There were 109 cases attending before the establishment of syncope unit (control group) and 126 cases attending after establishment (syncope unit group). The positive rate of examination, the treatment and its cost before and after the establishment of syncope unit were compared. After one year, the follow-up rate, recurrence rate, rehospitalization rate, treatment satisfaction and quality of life of patients were documented and compared between two periods.Results:The positive rates of tilt table test [61.90%), Holter monitoring [64.29%(81/126)], exercise stress test [7.14%(9/126)] invasive electrophysiology [40.48%(51/126)], cardiac imaging [9.52%(12/126)] and 24-h blood pressure monitoring [55.56%(70/126)] in syncope unit group were significantly higher than those in control group [44.95%(49/109), 36.70%(40/109), 5.50%(6/109), 10.09%(11/109), 2.75%(3/109) and 40.37%(44/109); χ2=19.28, 23.11, 6.93, 28.18, 15.85 and 11.61,respectively; all P<0.01]. The diagnostic rate of etiology in syncope unit group was significantly higher than that in control group [87.30%(110/126) vs. 77.06%(84/109), χ2=21.70, P<0.01].The time from onset to cardiac assessment and hospitalization time in syncope unit group were significantly shorter than those in control group[(3.68±1.93)h vs. (7.31±2.64)h;(6.17±1.52)d vs. (10.83±2.09)d]. The hospitalization rate [3.17%(4/126) vs. 8.26%(8/109)], hospital mortality [0.79%(1/126) vs. 2.75%(3/109)] and treatment cost [(4.91±1.14) thousands Yuan vs. (7.05±2.53) thousands Yuan] in syncope unit group were significantly lower than those in control group ( t=14.49, P<0.01; t=8.62, P=0.02;χ2=15.83, P<0.01;χ2=10.03, P=0.01; t=6.17, P=0.03).The outpatient follow-up rate [82.54%(104/126)] and treatment satisfaction rate [91.35%(95/104)] in syncope unit group were significantly higher than those in control group [61.47%(67/109) and 64.18%(43/67)]; and the recurrence rate [14.42%(15/104)] and rehospitalization rate [7.69%(8/104)] in syncope unit group were significantly lower than those in control group [40.30%(27/67) and 23.88%(16/67)](χ2=17.30, 20.37, 18.56, 15.08,all P<0.01). The scores of psychological status, physiological status, environmental status, social relations and overall quality of life in contral group were significantly lower than those in syncope unit group (43.62±12.84 vs. 59.13±13.95,43.10±11.31 vs. 5.86±12.09,52.35±12.76 vs. 63.58±13.05,54.87±12.08 vs. 67.91±14.23,58.42±11.87 vs. 69.28±13.51; t=7.74, P=0.03; t=7.50, P=0.03; t=8.66, P=0.02; t=9.77, P=0.01; t=8.46, P=0.02, respectively). Conclusion:The establishment of standardized syncope unit is helpful to improve the diagnosis efficiency and the prognosis of patients with suspected syncope, and also reduce the cost of diagnosis and treatment.

OBJECTIVE: To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo. METHODS: Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio. RESULTS: The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for which neither parent was carrier. The variant was not recorded in the public database. Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics, the c.1885G>A missense variant was predicted to be pathogenic (PS1+PS2+PM2+PP3+PP4). CONCLUSION The c.1885G>A missense variant probably underlay the disease in this child. Above finding has enriched the spectrum of the NF1 gene variants.
Alopecia Areata/genetics* ; Child ; Genomics ; Humans ; Mutation ; Neurofibromatosis 1/genetics* ; Vitiligo/genetics*

Objective:To evaluate and analyze the ultrasonic findings of idiopathic clubfoot and positional clubfoot deformities.Methods:Forty-nine newborn babies with congenital clubfoot were examined in the Department of Ultrasound of the Third Affiliated Hospital of Zhengzhou University from December 2020 to January 2022, Including 21 newborn babies(32 feet) with idiopathic clubfoot, and 28 babies(53 feet) with positional clubfoot. Twenty-two normal infants in the same period and the normal feet of the single clubfoot were selected as control group. The distance between medial malleolus and scaphoids of all feet were measured by ultrasound. The distance from the tangent line of the lateral edge of calcaneus to the midpoint of the lateral edge of the chondroid bone, medial soft tissue thickness and tibial calcaneal angle were measured by ultrasound. The data of idiopathic clubfoot group, positional clubfoot group and control group were statistically analyzed.Results:A total of 71 newborn babies with 142 feet were evaluated.The idiopathic clubfoot group had born and joint changes in the medial, lateral and posterior side, and the differences were statistically significant compared with the control group (all P<0.05). Compared with the control group, there were statistically significant differences in the medial and lateral side of the positional group(all P<0.05). But no significant changes in the posterior side( P>0.05). There were significant differences between medial and posterior side of idiopathic and positional clubfoot group (all P<0.05), but no significant differences in lateral side ( P>0.05). Conclusions:Ultrasonography can clearly display the tarsus bones in clubfoot, and observe the deformity changes of the idiopathic clubfoot and positional clubfoot.

OBJECTIVETo observe sperm motion parameters in pre-freeze and post-thaw semen samples using computer-assisted sperm analysis (CASA) system.

METHODSSemen analyses of 238 samples before freezing and after thawing were separately performed by Hamilton-Thorne Sperm Analyzer.

RESULTSSperm motility in post-thaw samples was significantly decreased. There was significant correlation and difference between pre-freeze and post-thaw samples in sperm motion parameters, including average path velocity (VAP), straight line velocity (VSL), curvilinear velocity (VCL), amplitude of lateral head displacement (ALH), straightness (STR) and linearity (LIN), except heat cross frequency (BCF). The percentage of sperm movement velocity parameters (VAP, VSL and VCL) and moving pattern parameters (ALH) significantly decreased, while that of LIN and STR significantly increased in post-thaw samples.

CONCLUSIONCASA system is of clinically applied value and is a useful tool for evaluating sperm motion parameters in pre-freeze and post-thaw semen samples.

Cryopreservation ; Diagnosis, Computer-Assisted ; Freezing ; Humans ; Male ; Sperm Motility

OBJECTIVETo evaluate the semen quality of the donors.

METHODSThe semen parameters of the primary samples of 512 donors were examined following the World Health Organization (WHO) guide and computer-aided sperm analysis (CASA, product by Harmilton Thorne) system.

RESULTSOf the 246 (246/512, 48%) donors with potential fertility, only 146 (146/512, 28.5%) came up to the semen standard set by the Chinese Ministry of Health, while 266 (266/512, 52%) were below the WHO reference values of semen parameters.

CONCLUSIONRepeat semen analyses may increase the success rate in screening semen donors. The semen quality of the donors suggests that it is necessary to pay more attention to male reproductive health.

Adult ; Humans ; Image Processing, Computer-Assisted ; Male ; Mass Screening ; Middle Aged ; Reference Values ; Semen ; physiology ; Sperm Banks ; Sperm Count ; Sperm Motility ; Tissue Donors

Objective To investigate the efficacy and safety of gastric peroral endoscopic myotomy ( G-POEM) for postsurgical gastroparesis. Methods A retrospective analysis was performed on data of 47 patients with gastroparesis after subtotal gastrectomy, who underwent G-POEM at Zhongda Hospital Southeast University form August 2016 to June 2018. G-POEM procedure, complications related to G-POEM, and improvement of symptoms and gastric emptying function were observed. Results All patients underwent G-POEM successfully. No serious G-POEM-related complications were observed. During a follow-up period of 9. 8±5. 8 months (range 3-18 months), the scores of gastroparesis cardinal symptoms index (GCSI) were 1. 6±0. 5, 1. 2±0. 4, 1. 1±0. 6, 1. 4±0. 3 and 1. 7±0. 3 respectively at the 1st, 3rd, 6th, 12th, and 18th months after G-POEM, and all scores were lower than that before G-POEM (3. 8±1. 1, all P<0. 01). The results showed the symptoms of gastroparesis were improved significantly. Gastric emptying imaging showed the hemi-emptying time was 23. 8±8. 8 min, 21. 2±9. 5 min, 20. 9±8. 3 min and 26. 4±7. 8 min at the 1st, 6th, 12th and 18th months after G-POEM, respectively, significantly shorter than that before G-POEM (67. 8±12. 5 min, all P<0. 01). Three-dimensional ultrasonography results of gastric antrum volume showed that the hemi-emptying time was 26. 4 (21. 8, 40. 3) min, 22. 6 (13. 9, 32. 7) min, 24. 3 (18. 2, 36. 5) min and 26. 8 (16. 4, 38. 5) min at the 1st, 6th, 12th and 18th months after G-POEM, respectively, which were all significantly shorter than that before G-POEM [ 72. 5 ( 48. 3, 108. 6 ) min, all P<0. 01 ] . Conclusion G-POEM has a satisfactory long-term efficacy on the treatment of gastroparesis after subtotal gastrectomy with good safety.

Objective To deveplope construct and validate a novel multiplex PCR system comprised of 30 Y-STR markers only with low and moderate mutation rates. Methods 30 Y-STRs characterized by low/moderate mutation rate and middle/high polymorphic was amplified simultaneously in a multiplex PCR system using the six color labeling fluorescence. PCR product was analyzed in a ABI 3500XL Genetic Analyzer. The accuracy, specifity, sensitivity and stability of the system and its validation on the mixtures were evaluated. Results The validation studies demonstrated that the system is a stable, accurate, and sensitive multiplex PCR system. The sensitivity was 0.0625ng DNA. Y-STR could be detection in a male/female DNA mixture ratio of 1:4. Conclusion The primary study demonstrates that this multiplex PCR system is effective and reliable for forensic routine DNA analysis. It will be very helpful for constructing Chinese forensic Y-STR database and population genetic research.