Objective To analyze the prognosis and influencing factors in patients with radioiodine-refractory differentiated thyroid cancer (RAIR-DTC). Methods A retrospective analysis was conducted on 52 patients with RAIR-DTC who underwent ineffective ¹³¹I therapy at the Department of Nuclear Medicine, Cancer Hospital, Chinese Academy of Medical Sciences from October 2016 to January 2020. Patients were categorized into progression and stable groups based on disease progression within five years post-treatment. Differences between groups were analyzed using chi-square test and logistic regression. Independent prognostic risk factors were identified using a Cox proportional hazards model. The Kaplan-Meier method with log-rank test was used to evaluate the impact of treatment on the prognosis of the progression group. Results The 3-year and 5-year survival rates of the 52 patients with RAIR-DTC were 88.5% and 73.1%, respectively. In the progression group, the rates were 81.8% and 57.6%. In the stable group, the rates were 100% and 100%. There were significant differences between the two groups in terms of age, presence of extrathyroidal extension, and the initial ¹³¹I treatment dose (P < 0.05). Univariate analysis indicated that the age, pre-ablation stimulated thyroglobulin level before the first ¹³¹I treatment, the neutrophil-to-lymphocyte ratio before the first treatment, and the sites of recurrence and metastasis were significantly associated with overall survival (P < 0.05). Multivariate analysis showed that age > 55 years (HR=12.40, 95% CI= 2.09-73.57, P=0.001) and distant metastasis (HR=24.47, 95% CI=4.17-143.75, P < 0.001) were independent risk factors for poor prognosis. Kaplan-Meier curve analysis showed that local surgery and/or targeted therapy significantly prolonged progression-free survival in the progression group (P < 0.001). Conclusion The prognosis for RAIR-DTC is poor, with advanced age and distant metastasis significantly associated with unfavorable outcomes. In elderly patients and those with extrathyroidal invasion, the treatment dose during initial ¹³¹I therapy may be appropriately increased to delay disease progression. For patients with disease progression, prompt local surgical intervention and/or targeted therapy is recommended.

Objective To analyze the prognosis and influencing factors in patients with radioiodine-refractory differentiated thyroid cancer (RAIR-DTC). Methods A retrospective analysis was conducted on 52 patients with RAIR-DTC who underwent ineffective ¹³¹I therapy at the Department of Nuclear Medicine, Cancer Hospital, Chinese Academy of Medical Sciences from October 2016 to January 2020. Patients were categorized into progression and stable groups based on disease progression within five years post-treatment. Differences between groups were analyzed using chi-square test and logistic regression. Independent prognostic risk factors were identified using a Cox proportional hazards model. The Kaplan-Meier method with log-rank test was used to evaluate the impact of treatment on the prognosis of the progression group. Results The 3-year and 5-year survival rates of the 52 patients with RAIR-DTC were 88.5% and 73.1%, respectively. In the progression group, the rates were 81.8% and 57.6%. In the stable group, the rates were 100% and 100%. There were significant differences between the two groups in terms of age, presence of extrathyroidal extension, and the initial ¹³¹I treatment dose (P < 0.05). Univariate analysis indicated that the age, pre-ablation stimulated thyroglobulin level before the first ¹³¹I treatment, the neutrophil-to-lymphocyte ratio before the first treatment, and the sites of recurrence and metastasis were significantly associated with overall survival (P < 0.05). Multivariate analysis showed that age > 55 years (HR=12.40, 95% CI= 2.09-73.57, P=0.001) and distant metastasis (HR=24.47, 95% CI=4.17-143.75, P < 0.001) were independent risk factors for poor prognosis. Kaplan-Meier curve analysis showed that local surgery and/or targeted therapy significantly prolonged progression-free survival in the progression group (P < 0.001). Conclusion The prognosis for RAIR-DTC is poor, with advanced age and distant metastasis significantly associated with unfavorable outcomes. In elderly patients and those with extrathyroidal invasion, the treatment dose during initial ¹³¹I therapy may be appropriately increased to delay disease progression. For patients with disease progression, prompt local surgical intervention and/or targeted therapy is recommended.

Objective:To compare the genotypes and phenotypes between the monozygotic twins via whole genome sequencing to further clarify the autosomal dominant inherited neurofibromatosis type 1 (NF1) variants related to congenital pseudarthrosis (CP).Methods:According to the diagnostic criteria of congenital tibial pseudarthrosis and the clinical diagnostic criteria of NF1, two pairs of monozygotic twins with NF1 were included. Both were female and only one of each pair had congenital pseudarthrosis. The other did not have congenital pseudarthrosis. Whole genome sequencing was performed using the peripheral blood of the two pairs of monozygotic twins. Customized bioinformatics analysis was then performed to identify single nucleotide variants (SNVs), short insertion deletion variants (InDel), copy number variants (CNVs), and structural variants (SVs). Classified the variants according to the American College of Medical Genetics and Genomics (ACMG) and ClinGen criteria. The germline variants within the monozygotic twins were compared to identify the CP patients' unique variants. The shared pathogenic or likely pathogenic germline variants between the unique variants in the CP patients from the twins were also analyzed. Further, the identified disease-causing variants were validated by Sanger sequencing in the family of the twins and their parents. Finally, the genotypes and phenotypes regarding the pathogenic variants of the NF1 gene among the twins were characterized. Results:Both the two monozygotic twins were identified pathogenic variants in the NF1 gene. One with c.3047_3048del (p.Cys1016SerfsTer4), and the other with c.4267A>G (p.Lys1423Glu). By Sanger sequencing validation in family quads, the two CP patients and their siblings harbored de novo heterozygous variants of the NF1 gene. In addition to the NF1 gene, no other genes were identified pathogenic or likely pathogenic variants uniquely in the CP patients compared with their twin sisters, as well as SVs and CNVs. In addition, by analyzing the rare and damaging variants in the two CP patients from the two twins, they had no overlapping genes against the SNVs, InDels, SVs, or CNVs. Conclusion:Whole genome sequencing revealed that both the two monozygotic twins with NF1 were detected pathogenic variants of gene NF1. No other pathogenic variants specific to the CP patients among the twins were identified. The two CP patients shared no other common genes from the detected likely pathogenic variants.

Objective:To investigate the application of sentinel lymph node biopsy (SLNB) in early-staged cervical cancer by laparoscopy.Methods:It was a prospective, single-arm, single-center clinical study. Seventy-eight cases of cervical cancer patients were collected from July 2015 to December 2018 at the Fourth Hospital of Hebei Medical University. All the patients were injected with tracer into the disease-free block of cervical tissue after anesthesia by the same surgeon who learned sentinel lymph node (SLN) mapping technique in Memorial Sloan-Kettering Cancer Center, and underwent SLN mapping followed by complete pelvic lymphadenectomy. Moreover, all the dissected lymph nodes were stained with hematoxylin eosin staining (HE) pathological examination. Besides, the negative SLN on hematoxylin-eosin staining were detected by immunohistochemistry cytokeratin staining micro-metastasis. To analyze the distribution, detection rate, false negative rate the sensitivity and negative predictive value of the SLN in early-staged cervical cancer by laparoscopy, and explore the value of SLN mapping in predicting the lymph nodes metastasis in early-staged cervical cancer.Results:The overall detection rate of SLN in cervical cancer was 99% (77/78), bilateral detection rate was 87% (68/78). The average of 12.4 lymph node (LN) and 3.6 SLN were dissected for each patients each side. SLN of cervical cancer were mainly distributed in the obturator space (61.5%, 343/558), followed by external iliac (23.5%, 131/558), common iliac (7.3%, 41/558), para-uterine (3.8%, 21/558), internal iliac (2.2%, 12/558), para abdominal aorta (1.1%, 6/558), and anterior sacral lymphatic drainage area (0.7%, 4/558). Fourteen cases of LN metastasis were found among all 78 cases. There were a total of 38 positive LN, including 26 SLN metastasis and 12 none sentinel LN metastasis. Through immunohistochemical staining and pathological ultra-staging, 1 SLN was found to be isolated tumor cells (ITC), and 5 SLNs were found to be micro-metastases (MIC), accounting for 23% (6/26) of positive SLN. SLN mapping with pathological ultra-staging improved the prediction of LN metastasis in cervical cancer (2/14). Metastatic SLN mainly distributed in the obturator space (65%, 17/26), peri-uterine region (12%, 3/26), common iliac region (15%, 4/26), and external iliac region (8%, 2/26). The consistency of the diagnosis of lymph node metastasis by SLN biopsy and postoperative retroperitoneal lymph node metastasis showed that the Kappa value was 1.000 ( P<0.001), indicated that the metastasis status of SLN and retroperitoneal lymph node were completely consistent. The sensitivity, specificity, accuracy, false-negative rate, and negative predictive value of SLN biopsy in the diagnosis of lymph node metastasis were 100%, 100%, 100%, 0, and 100%, respectively. Conclusions:SLN in early-staged cervical cancer patients were mainly distributed in the obturator and external iliac space, pathalogical ultra-staging of SLN could improve the prediction of LN metastasis. Intraoperative SLN mapping is safe, feasible and could predict the state of retroperitoneal LN metastasis in early-staged cervical cancer. SLNB may replace systemic pelvic lymphadenectomy.

Objective:To explore the histopathological features of ulcer plaque identified by carotid CT angiography (CTA), and to explore the relationship between ulcer plaque and ischemic stroke from the microscopic perspective.Methods:Clinical data of 124 patients with carotid artery stenosis underwent carotid endarterectomy in our hospital from September 2016 to September 2020 were collected. According to the CTA results of carotid arteries, these patients were divided into ulcer plaque group ( n=47) and non-ulcer plaque group ( n=77). The clinical data, and vulnerability index and histopathological differences of placque tissues between the two groups were compared. Results:The proportion of patients with cerebral infarction history in ulcer plaque group was significantly higher than that in non-ulcer plaque group ( P<0.05). As compared with the non-ulcer plaque group, the ulcer plaque group had significantly higher proportions of fibrous cap rupture, intra-plaque hemorrhage and large necrotic core of lipid ( P<0.05). The vulnerability index of ulcer plaque group and non-ulcer plaque group was 2.01±0.51 and 0.49±0.25, respectively, with significant difference ( t=19.300, P<0.001). Conclusion:The ulcer plaque identified by CTA is correlated with fibrous cap rupture, intra-plaque hemorrhage and large necrotic core of lipid; at the same time, ulcer plaque is unstable and these patients are trended to have ischemic stroke.

OBJECTIVE: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT). METHODS: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing. RESULTS: Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive. CONCLUSION The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.

Objective To observe the effect of high frequency repetitive transcranial magnetic stimulation ( rTMS) on executive function in patients after stroke .Methods Thirty-six stroke patients with executive dysfunction in the Second Affiliated Hospital of Guangzhou Medical University from March 2016 to April 2017 were randomly divided into experimental group ( n=18 ) and control group ( n=18 ) .The experimental group received 10 Hz rTMS of the left dorsolateral prefrontal cortex ( DLPFC ) and cognitive functional training , while the control group received sham rTMS and cognitive functional training , for four weeks.Mini-Mental State Examination(MMSE), Wisconsin Card Classification Test(WCST), Digit Symbol Test( DST) and Digital Span ( DS) were used for cognitive assessment at baseline and therapy completed . Results After a four weeks therapy , the total number of responses showed no significant difference in WCST between two groups.But the control group after treatment showed that MMSE score (17.44 ±4.73) and DST score (4.50 (2.75, 8.25)) were improved compared with that before treatment (MMSE score 15.28 ±4.61, t=-8.371, P=0.000;DST score 4.00 (2.75, 7.25), Z=-2.122, P=0.049), and the DS score and the numbers of correction , classification and continuous errors of WCST showed no significant difference compared with that before treatment .The experimental group after treatment showed that MMSE score (20.67 ±4.59), DST score (7.50(4.75, 12.50)), DS score (recite in order 7.00 (7.00, 8.00), recite in reverse order 3.00 (2.00, 4.00)), the numbers of correction of WCST (24.61 ± 8.30), the numbers of continuous errors (12.17 ±5.08), the numbers of classification (2.00 (2.00, 3.00) were improved compared with that before treatment ( MMSE score 15.50 ±5.24, t=-21.013, P=0.000;DST score 3.00(1.00, 7.00), Z=-3.757, P=0.000; DS score recited in order 6.00(5.00, 6.00), Z=-3.703, P=0.000;DS score recited in reverse order 2.00(1.00, 3.00), Z=-3.494, P=0.000;The numbers of correction of WCST (16.50 ±9.34), t=-6.544, P=0.000); The numbers of continuous errors (18.06 ±5.63, t=9.744, P=0.000); The numbers of classification (1.00 (1.00, 2.00), Z=-3.900, P=0.000 ).And the curative effect was better than that of control group . Conclusion High frequency rTMS combined with cognitive function training can improve the executive dysfunction of stroke patients , and the improvement is better than cognitive functional training alone .

Objective To assess the mortality and risk factors for stroke among dialysis patients with different dialysis modality. Methods 590 patients who underwent hemodialysis (HD) or peritoneal dialysis (PD) from January 2008 to December 2012 were recruited in our study, and categorized according to dialysis modality. The prognostic risks of stroke were hazard ratio of risk was calculated by Cox regression analysis in HD and PD patients respectively. by the Kaplan?Meier curves or the Cox proportional hazards model. Results A total of 590 patients is under a median follow?up of 32.5 months. The stroke incidence rate of 49.2/1, 000 patient?years in total patients, and 74.1/1, 000 patient?years in HD patients, which was significantly higher compared with that of 31.8/1,000 patient?years in PD patients. On multivariate analysis, independent predictors of stroke occurrence were age(HR=1.05;95%CI:1.02~1.09;P=0.003)、diabete(HR=1.98;95%CI:1.31~3.46;P=0.001)、CVD(HR=2.06;95%CI:1.62-3.05;P < 0.001)、Total triglycerides(HR = 1.20; 95% CI:1.08-1.58; P = 0.034) and hemodialysis (HR = 2.03; 95% CI:1.46-3.89; P = 0.005). Conclusions Age, diabete, CVD, total triglycerides and hemodialysis are independently associated with increased stroke risks in dialysis patients, which suggest that these patients should pay attention to weight control and glucose control.

Objective To study the effects of the rehabilitation robot-assisted task-oriented training on the hand function in patients after stroke. Methods From June, 2015 to September, 2016, 35 inpatients suffering from stroke were randomly allocated to control group (n=17) and trial group (n=18). Based on the routine rehabilitation, the trial group accepted robot-assisted task-oriented training, while the control group accepted therapist-assisted task-oriented training, for two weeks. They were measured the active range of motion (AROM) of fingers, assessed with fingers motor of Fugl-Meyer Assessment (FMA) and modified Barthel Index (MBI) invovled with hands before and after train-ing. Results The inpatients dropped three in the control group, two in the trial group. AROM of extension and flexion of all the fingers, the AROM of extension and total of three fingers of thumb, index and middle, and the total AROM of each finger improved in the trial group af-ter training (t>2.937, P<0.05), while the AROM of extension and flexion of all the fingers, AROM of extension, flexion and total of the fin-gers of thumb, index and middle, total AROM of the fingers of thumb, index and little improved in the control group after training (t>2.528, P<0.05);the AROM of extension and total of the fingers of thumb, index and middle, and the total AROM of fingers of thumb and index im-proved more in the trial group than in the control group (t>2.535, P<0.05). The scores of mass flexion, mass extension, opposition, cylinder grip, spherical grip and total score of FMA improved in the trial group after training (Z>2.000, P<0.05), while the scores of mass extension, opposition and the total score of FMA improved in the control group after training (Z>2.000, P<0.05). There was no significant difference between the two groups on the items and total scores after training (P>0.05). The scores of feeding, dressing, toilet transfers, bathing, groom-ing of MBI and the total score of them improved in the trial group after training (Z>2.041, P<0.05), while the total score of MBI improved in the control group after training (Z=-2.527, P<0.05). There was no significant difference between the two groups in the items and total scores after training (P>0.05). Conclusion The rehabilitation robot-assisted task-oriented training can improve AROM of hemiplegic fingers and grip function.

Objective To observe the effect of virtual reality robotic hand on hand motor function and activities of daily living of pa-tients after stroke. Methods From June, 2015 to June, 2016, 32 patients with hand motor dysfunction were assigned into experimental group (n=16) and control group (n=16). The experimental group received training with virtual reality robotic hand and hand based rehabilitation, while the control group received hand based rehabilitation only, for four weeks. They were evaluated with Fugl-Meyer Assessment (FMA) of fingers and wrists and modified Barthel index (MBI) before and after treatment. Results The total score and the scores of items of FMA and MBI improved after treatment in the experimental group (Z>3.45 or t>3.45, P<0.01). The total score and the scores of the finger, wrist of FMA, and the scores of the eating, dressing and grooming of MBI improved in the control group (Z>2.07 or t>4.18, P<0.05). The total scores and scores of the items of FMA and MBI improved more in the experimental group than in the control group (Z>2.14 or t>3.20, P<0.05). Conclusion Virtual reality robotic hand training can promote the recovery of hand function and activities of daily living in patients af-ter stroke.