[Analysis of MTHFR gene variants in fifteen children with hyperhomocysteinemia].

The clinical manifestations, biochemical and metabolic data, genetic variations and treatment data of children with MTHFR gene variant induced hyperhomocysteinemia admitted to Hangzhou Children's Hospital and Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from November 2015 to September 2021 were analysed retrospectively. A total of 15 pediatric patients were included, including 10 males and 5 females, with onset ages ranging from 6 days to 18 years old and confirmed ages ranging from 40 days to 18 years old. One confirmed case was detected through neonatal screening, and the remaining 14 cases were all diagnosed through genetic diagnosis after onset. The main clinical manifestations were feeding difficulties, hypotonia, epilepsy, developmental delay. All patients had elevated levels of blood homocysteine, with blood homocysteine levels before and after treatment being (151.46±57.44) µmol/L and (69.96±32.88) µmol/L, significantly decreased after treatment compared with before treatment, with a statistically significant difference (P<0.001). The blood methionine level before the treatment was 9.40 (6.20, 11.96) µmol/L, normal or slightly decreased compared to the reference range. The methionine level returned to normal after treatment. A total of 19 MTHFR gene variants were detected, with 6 being unreported variants and 13 being known variants. c.1316C>T (p.L439P) was the most common variant(16.6%,5/30). All the patients had varied neurological damages, with 7 patients improved after metabolic therapy by carnitine and folinic acid, 8 patients experiencing developmental delay, and 1 patient experiencing frequent epilepsy. The clinical manifestations of MTHFR gene variation-related hyperhomocysteinemia are complex and variable. Early-onset and homozygous variants often have a poor prognosis. Blood homocysteine, blood amino acid analysis, serum total homocysteine assay and gene testing are helpful for early diagnosis.

[Investigation on occupational burnout among medical staff of tuberculosis control in Beijing].

Objective: To understand the occupational burnout status of tuberculosis prevention and treatment medical staff in Beijing, and analyze the influencing factors of different degrees of occupational burnout. Methods: From April to May 2021, an anonymous questionnaire survey was conducted among the medical staff of tuberculosis prevention and control in Beijing and 16 districts under its jurisdiction. A total of 313 questionnaires were issued, 311 were recovered, and 311 were valid, with an effective recovery rate of 99.36%. The General Information Questionnaire and Maslach Burnout Inventory Generalized Scale (MBI-GS) were used to collect social demographic data and the occurrence of occupational burnout, analyze the occurrence degree of occupational burnout, and identify the influencing factors of the occurrence degree of occupational burnout by using the orderly multiple logistic regression model. Results: Among 311 tuberculosis prevention and control medical staff, the total detection rate of occupational burnout was 62.70% (195/311), and the detection rates of mild, moderate and severe occupational burnout were 22.19% (69/311), 38.59% (120/311) and 1.93% (6/311), respectively. Orderly multiple logistic regression analysis showed that medical staff in prevention and control positions (OR=1.616, 95% CI: 1.030-2.534, P=0.037) and not meeting expectations for title promotion (OR=2.969, 95%CI: 1.675-5.262, P<0.001), and not getting along well with colleagues (OR=2.177, 95%CI: 1.362-3.480, P=0.001) were the main factors affecting the occurrence and severity of occupational burnout among tuberculosis prevention and treatment medical staff. Conclusion: The main manifestations of tuberculosis prevention and control medical staff in Beijing are mild to moderate occupational burnout. It is suggested to pay attention to the occupational needs of different positions of tuberculosis prevention and control medical staff, cultivate professional achievement, carry out psychological counseling, and reduce the degree of occupational burnout.

[Relationship between preoperative inflammatory indexes and prognosis of patients with rectal cancer and establishment of prognostic nomogram prediction model].

Objective: To compare the prognostic evaluation value of preoperative neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and systemic immune-inflammation index (SII) in rectal cancer patients. Nomogram survival prediction model based on inflammatory markers was constructed. Methods: The clinical and survival data of 585 patients with rectal cancer who underwent radical resection in the First Affiliated Hospital of Xi'an Jiao tong University from January 2013 to December 2016 were retrospectively analyzed. The optimal cut-off values of NLR, PLR, LMR, and SII were determined by the receiver operating characteristic (ROC) curve. The relationship between different NLR, PLR, LMR and SII levels and the clinic pathological characteristics of the rectal cancer patients were compared. Cox proportional risk model was used for univariate and multivariate regression analysis. Nomogram prediction models of overall survival (OS) and disease-free survival (DFS) of patients with rectal cancer were established by the R Language software. The internal validation and accuracy of the nomograms were determined by the calculation of concordance index (C-index). Calibration curve was used to evaluate nomograms' efficiency. Results: The optimal cut-off values of preoperative NLR, PLR, LMR and SII of OS for rectal cancer patients were 2.44, 134.88, 4.70 and 354.18, respectively. There was statistically significant difference in tumor differentiation degree between the low NLR group and the high NLR group (P<0.05), and there were statistically significant differences in T stage, N stage, TNM stage, tumor differentiation degree and preoperative carcinoembryonic antigen (CEA) level between the low PLR group and the high PLR group (P<0.05). There was statistically significant difference in tumor differentiation degree between the low LMR group and the high LMR group (P<0.05), and there were statistically significant differences in T stage, N stage, TNM stage, tumor differentiation degree and preoperative CEA level between the low SII group and the high SII group (P<0.05). The multivariate Cox regression analysis showed that the age (HR=2.221, 95%CI: 1.526-3.231), TNM stage (Ⅲ grade: HR=4.425, 95%CI: 1.848-10.596), grade of differentiation (HR=1.630, 95%CI: 1.074-2.474), SII level (HR=2.949, 95%CI: 1.799-4.835), and postoperative chemoradiotherapy (HR=2.123, 95%CI: 1.506-2.992) were independent risk factors for the OS of patients with rectal cancer. The age (HR=2.107, 95%CI: 1.535-2.893), TNM stage (Ⅲ grade, HR=2.850, 95%CI: 1.430-5.680), grade of differentiation (HR=1.681, 95%CI: 1.150-2.457), SII level (HR=2.309, 95%CI: 1.546-3.447), and postoperative chemoradiotherapy (HR=1.837, 95%CI: 1.369-2.464) were independent risk factors of the DFS of patients with rectal cancer. According to the OS and DFS nomograms predict models of rectal cancer patients established by multivariate COX regression analysis, the C-index were 0.786 and 0.746, respectively. The calibration curve of the nomograms showed high consistence of predict and actual curves. Conclusions: Preoperative NLR, PLR, LMR and SII levels are all correlated with the prognosis of rectal cancer patients, and the SII level is an independent prognostic risk factor for patients with rectal cancer. Preoperative SII level can complement with the age, TNM stage, differentiation degree and postoperative adjuvant chemoradiotherapy to accurately predict the prognosis of rectal cancer patients, which can provide reference and help for clinical decision.

[Clinical analysis of 30 cases of basal ganglia germinoma in children].

OBJECTIVE: To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis. METHODS: The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma. RESULTS: A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker ß-human chorionic gonadotropin (ß-HCG) were normal in 8 patients.The serum ß-HCG was normal in 11 patients but the cerebrospinal fluid ß-HCG was slightly elevated, and the serum and cerebrospinal fluid ß-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement. CONCLUSION: The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.

[Clinical study of hysteroscopical electroresection of FIGO type 3 myoma].

Objective: To analyze the clinical application and to evaluate the efficiency of hysteroscopical electroresection of International Federation of Gynecology and Obstetrics (FIGO) type 3 myoma. Methods: The clinical data of patients who underwent hysteroscopical electroresection single FIGO type 3 myoma in Obstetrics and Gynecology Hospital of Fudan University from January 2019 to October 2021 were collected retrospectively. The clinical symptoms, myoma size, location, operation time, intraoperative bleeding, surgical complications and postoperative follow-up were recorded, and the subsequent pregnancy outcomes were followed-up. Results: Totally 35 patients with FIGO type 3 myoma were included in this study. The average age was (36.6±4.7) years old, the diameter of myoma was (4.0±1.2) cm (range: 2.0-5.8 cm). The rate of complete resection of myoma in one operation was 86% (30/35), the average operation time was (41±15) minutes (range: 20-65 minutes), and the average intraoperative bleeding was (24±18) ml (range: 5-150 ml). No complications such as uterine perforation, massive hemorrhage, hyperhyderation syndrome and infection occurred in all patients perioperation. There were 20 cases with significant increase of menstruation before operation, the cure rate and effective rate of hysteroscopical electroresection of FIGO type 3 myoma were 75% (15/20) and 95% (19/20). There were 24 patients with fertility requirements, their average follow-up time was (14.5±6.8) months, the pregnancy rate within 1 year after operation was 79% (19/24), and the average postoperative pregnancy time was (5.8±3.4) months. There were 15 cases who had completed delivery after operation, including 10 cases of vaginal delivery and 5 cases of cesarean section, and none of them had uterine rupture. Conclusions: Hysteroscopy could effectively resect FIGO type 3 myoma. Hysteroscopical electroresection of FIGO type 3 myoma is minimally invasive with rapid postoperative recovery and could achieve pregnancy in a short time, which is not only helpful to reduce the amount of menstruation, but also beneficial for the prognosis of fertility. It should be carried out by the experienced hysteroscopists.

[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].

The clinical and biochemical data and gene sequencing results of patients with carnitine palmitoyltransferase 1A deficiency were analyzed, in order to improve the understanding of the disease. Six patients (5 males and 1 female, aged from 1 to 8 years old) with carnitine palmitoyltransferase 1A deficiency from Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital between 2008 and 2019 were included. Two cases were detected by neonatal screening and had no clinical symptoms. The remaining 4 cases all showed seizures induced by fever, vomiting or diarrhea. All the 6 patients showed increased serum free carnitine (C0), decreased hexadecanoylcarnitine (C16) and octadecanoylcarnitine (C18), and increased C0/(C16+C18). Meanwhile, compound heterozygous mutations of CPT1A gene were detected in all 6 patients, of which 2 were reported mutations (c.281+1G>A and c.968-8C>T), and 10 were new mutations. The new mutations included 6 missense mutations, 1 nonsense mutation, 1 deletion mutation and 2 splicing mutations. Detection of free carnitine and acyl carnitine by tandem mass spectrometry is helpful for early screening and diagnosis of carnitine palmitoyltransferase 1A deficiency.

[A long-term follow up study of cervical spondylotic myelopathy using diffusion tensor imaging].

Objective: To analyze the correlation between the parameters of diffusion tensor imaging (DTI) and the clinical function scores before and 5 years after anterior cervical discectomy and fusion (ACDF) by measuring the DTI signal of the maximum compression level (MCL) of the cervical spinal cord in patients with cervical spondylotic myelopathy (CSM). Methods: A prospective study was conducted and clinical data of 37 patients with CSM treated by ACDF in Beijing Chaoyang Hospital from February 2014 to February 2020 were analyzed. The MCL was studied with diffusion tensor imaging (DTI) of MRI. The changes of diffusion indexes (fractional anisotropy (FA)), and clinical function score including Modified Japanese Orthopedic Association (mJOA), neck disability index (NDI) and visual analog scale (VAS) of pain were compared among each follow-up point. The FA value and clinical function score were collected and the data was analyzed to determine whether the high signal intensity could be observed in T2-weighted imaging (T2WI) at each follow-up point. The changes of preoperative and postoperative data were compared, and the correlation between FA value and other two clinical function score were analyzed at each follow-up point. Results: There were 14 males and 23 females with a mean age of (55±10) years in this study. All patients received the surgery and the medullary symptoms improved significantly postoperatively. After 3 months, the mJOA and FA value were improved by 2.62±1.41 and 0.14±0.11 on average, respectively (both P<0.05); and there were significant differences in these two indexes between each follow-up point in two years after the operation (all P<0.05). At the MCL, there were strong correlations between the FA value and mJOA score pre-and postoperatively (rs=0.770, 0.729, both P<0.01). There was no significant correlation between mJOA, NDI and VAS (both P>0.05). Conclusions: The DTI sensitively reflects the improvement of spinal cord function and can be used as an important tool to predict and evaluate the state of spinal cord dysfunction in patients with CSM.

[Effect of perioperative accelerated rehabilitation management program for children with congenital spinal deformity].

Objective: To explore the perioperative therapeutic effect of enhanced recovery after surgery (ERAS) in children with congenital spinal deformity and summarize the clinical experience. Methods: Fifty-nine pediatric patients with congenital spinal deformities admitted to Beijing Children's Hospital from May 2020 to January 2021 were included in this study, and all patients underwent posterior spinal osteotomy orthopedic implant fusion with internal fixation. There were 22 males and 37 females, aged (7.4±4.1) years. Patients were divided into ERAS group (n=29) and control group (n=30) according to the management model. Patients in the ERAS group were managed with an accelerated recovery management model during the perioperative period, which mainly included: high protein diet, shortened fasting time, optimized anesthesia protocol, and multimodal analgesia. Patients in the control group received the traditional perioperative management model. The indexes of surgery, diet, pain score and laboratory tests were compared between the two groups. Results: All patients completed the surgery successfully. The mean temperature and pain scores of patients in the ERAS group were lower than those in the control group at 3 days postoperatively (P<0.05). The time to exhaustion and defecation in the ERAS group was (1.0±0.8) d and (2.5±0.9) d postoperatively, both significantly earlier than those in the control group ((3.4±0.8) d and (4.0±1.1) d) (both P<0.05). C-reactive protein was 38(8,46) mg/L in patients of the ERAS group on the day 3 postoperatively, which was significantly lower than that in the control group 47(22,93) mg/L (P=0.023). The hemoglobin level on postoperative day 3 was (110.7±9.6) g/L in the ERAS group, which was significantly higher than that in the control group ((104.5±11.4) g/L) (P=0.029). Postoperative complications occurred in 8(27.6%) and 9(30.0%) patients in the ERAS and control groups, respectively (P=1.000), with mild abdominal pain and bloating being the most common complications in both groups, most of which were not treated specifically. Conclusion: ERAS is a safe and effective perioperative management mode for children with congenital spinal deformity. Compared with the traditional method, it can significantly improve the treatment efficiency and deserve clinical application.

[Application of vaginoscopy in the diagnosis and treatment of occult vaginal high-grade squamous intraepithelial lesions].

Objective: To investigate the application value of vaginoscopy in the diagnosis and treatment of vaginal squamous intraepithelial lesions post hysterectomy. Methods: From May 2017 to June 2020, patients with high-risk (HR)-HPV infection and (or) cytological abnormalities after hysterectomy in Obstetrics and Gynecology Hospital Affiliated to Fudan University were examined by colposcopy, and those who were not satisfied with exposure under colposcopy were further examined by vaginoscopy. The role of vaginoscopy in the detection and treatment of occult vaginal squamous intraepithelial lesions was analyzed. Results: A total of 153 patients with HR-HPV infection and (or) cytological abnormalities, and inadequate colposcopy were enrolled in this study. The average age was (49.8±8.1) years. All cases were successfully performed vaginoscopy with no vaginal perforation, no bladder and intestinal injury. During vaginoscopy, 11 (7.2%, 11/153) cases with unclear high-grade squamous intraepithelial lesion (HSIL) boundary under colposcopy were found with clear HSIL boundary, and new HSIL was found in 23 (15.0%, 23/153) cases. According to colposcopy, there were 89 cases of normal or inflammation, 45 cases of vaginal low-grade squamous intraepithelial lesion (LSIL) and 19 cases of vaginal HSIL. According to vaginoscopy, there were 56 cases of normal or chronic inflammation, 55 cases of vaginal LSIL, 40 cases of vaginal HSIL (including 2 cases of vaginal HSIL could not exclude cancer) and 2 cases of vaginal carcinoma. There were significant difference between colposcopy and vaginoscopy (P<0.01). The missed diagnosis rate of vaginal apex blind curettage under colposcopy was 54.8%. For the 40 cases with vaginal HSIL under vaginoscopy, 15 cases were completely curettaged with vaginal endoscopic claw forceps, and 22 cases were vaporized by Versapoint. Among the 37 cases of vaginal HSIL treated by vaginoscopy, 34 cases were followed up for 6 months with 31 cases of vaginal HSIL cured. The cure rate was 91.2% (31/34), the positive rate of HR-HPV decreased from 100.0% (34/34) to 79.4% (27/34). Conclusion: For patients with inadequate exposure of vaginal apex during colposcopy posthysterectomy, vaginoscopy is helpful to detect the occult lesions in the vaginal apex, and it could also be used for the treatment of vaginal squamous intraepithelial lesions.

[Risk stratified management of cervical adenocarcinoma in situ based on cone margin state].

Objective: To investigate the hierarchical management scheme of cervical adenocarcinoma in situ (AIS) based on cervical conization margin state. Methods: All medical records of 249 patients diagnosed as AIS by loop electrosurgical excision procedure (LEEP) conization from Jan. 2010 to Dec. 2015 in Obstetrics and Gynecology Hospital of Fudan University were retrospectively reviewed, to explore the relationship between the status of the resection margin and the residual lesion after LEEP, and the multivariate logistic regression method was used to analyze the related factors that affect the residual lesion after LEEP in cervical AIS patients. Results: (1) The age of 249 cervical AIS patients was (40±8) years old (range: 23-71 years old). Of the 249 patients, 19 (7.6%, 19/249) had residual lesions; 69 cases were pathologically diagnosed as AIS after LEEP, and the residual lesion rate was 13.0% (9/69), which was significantly higher than that of AIS + high-grade squamous intraepithelial lesion [5.6% (10/180); χ2=3.968,P=0.046]; 33 cases were multifocal lesions, the residual rate of lesions was 21.2% (7/33), which was significantly higher than that of single focal lesions patients [5.6% (12/216); χ2=7.858, P=0.005]; 181 patients underwent endocervical curettage (ECC) before surgery, the residual rate of lesions in ECC-positive patients was 14.0% (14/100) , significantly higher than that of ECC-negative patients [4.9% (4/81); χ2=4.103, P=0.043]. (2) Among 249 cases of AIS patients, the positive rate of resection margins after LEEP was 35.3% (88/249); the residual rate of lesions in patients with positive resection margins (14.8%, 13/88) was significantly higher than those with negative margins [3.8%(6/156); χ2=9.355, P=0.002]. The age of patients underwent total hysterectomy after LEEP was (43±7) years old, which was significantly higher than that of patients who did not undergo total hysterectomy [(37±8) years old; t=6.518, P<0.01].Among the patients underwent total hysterectomy after LEEP, 3 cases (2.0%, 3/152) had fertility requirements, while 38 cases (39.2%, 38/97) did not underwent total hysterectomy, the difference between the two groups was statistically significant (χ2=59.579, P<0.01). Among the 152 patients who underwent total hysterectomy after LEEP, the residual rate of lesions was 11.8% (18/152); the residual rate of lesions in patients with positive resection margins was significantly higher than that of patients with negative resection margins [18.8% (12/64) vs 7.0% (6/86); χ2=4.861, P=0.028]. The median follow-up time of 97 patients who did not undergo total hysterectomy after LEEP was 32 months (range: 4-70 months). During the follow-up period, 3 cases of cervical AIS recurrence (3.1%, 3/97) and were followed by hysterectomy,no invasive adenocarcinoma were seen. (3) Multivariate logistic regression analysis showed that the positive resection margin (OR=4.098, 95%CI: 1.235-13.595, P=0.021), multifocal lesions (OR=5.464, 95%CI: 1.494-19.981, P=0.010) were independent risk factors that affected the residual lesions in patients with cervical AIS after LEEP. Conclusions: The cervical AIS patients after LEEP conization suggested be stratified by cone margin state as the first-line stratified index, age and fertility needs as the second-line stratified management index. The individualized management plan should be developed based on comprehensive assessment of high-risk factors of residual lesions.

[Value of high-resolution anoscopy in the diagnosis of anal precancerous lesions].

Objective: To evaluate the value of high-resolution anoscopy (HRA) in the diagnosis of anal precancerous lesions. Methods: A retrospective cohort study was performed, which included 142 patients who underwent HRA in vulvar and anal clinic at Obstetrics and Gynecology Hospital of Fudan University from January 2014 to December 2019. With the perianal and anal canal biopsy pathology as the "gold standard", the diagnostic value of HRA and specific findings for anal precancerous lesions were evaluated and the clinical characteristics of patients with anal precancerous lesions were analyzed. Results: (1) Agreement between HRA and anal pathology were 76.6% (95/124, perianal) and 70.0% (84/120, anal canal), in which there was no significant difference (χ2=1.365, P=0.243). The strength of agreement with weighted Kappa statistic were 0.604 (perianal) and 0.455 (anal canal) respectively. HRA diagnosis were more overestimated [16.9% (21/124) in perianal and 25.0% (30/120) in anal canal] than underestimated [6.5% (8/124) in perianal and 5.0% (6/120) in anal canal]. The sensitivity and specificity of HRA in the diagnosis of anal precancerous lesions were all more than 60.0% (perianal lesions: 97.8% and 74.7%; anal canal lesions: 90.9% and 66.7%), and Youden's index were >0.5 (perianal lesions: 0.725; anal canal lesions: 0.576). The positive predictive value of HRA in anal canal lesions (50.8%) was lower than that in perianal lesions (68.8%). (2) The thin acetowhite epithelium was the most common finding in anal precancerous lesions, and its performance in anal canal lesions (the sensitivity, the specificity and the Youden's index were 78.8%, 62.4% and 0.412, respectively) were better than those in perianal lesions (the sensitivity, the specificity and the Youden's index were 28.9%, 96.9% and 0.258, respectively). The dense acetowhite epithelium and vascular patterns were only seen in anal canal lesions. Lugol's iodine was little useful for perianal lesions (the incidence of iodine negative was 0),but quite useful to evaluate the canal lesions (the positive predictive value was 83.3% and the negative predictive value was 82.3%). (3) The average age of patients with low-grade anal precancerous lesion was (37±10) years old, and high-grade anal precancerous lesion was (42±11) years old, and there was significant difference between them (P=0.034). Age curve showed that the peak age was 30-40 years old. Vulvar intraepithelial lesion was the risk factor of anal precancerous lesions (χ2=4.284, P<0.05). Conclusions: HRA patterns are reliable in the diagnosis of anal precancerous lesions, which is important for guiding biopsy. However, it is easy to be overestimated, especially for anal canal lesions. The acetowhite epithelium is the most common finding in anal precancerous lesions, but vascular patterns are only seen in anal canal lesions.

Delayed seroreversion of specifical antibody against HIV in HIV-exposed infants: A retrospective cohort study.

OBJECTIVES: To investigate the seroreversion time in HIV-1-exposed but uninfected infants from two tertiary hospitals in China. METHODS: This study retrospectively investigated the data of perinatal, HIV-1-exposed infants from hospitals in Beijing and Shenzhen. Maternal and infant medical records from both hospitals from January 2009 to December 2019 were reviewed, and the HIV antibody seroreversion times of infants were determined. From 2009 to 2019, a total of 485 HIV-1-exposed but uninfected infants were enrolled. The majority of infants were born at term with normal birth weight. RESULTS: The seroreversion rates were 89.3%, 94.2% and 100% at 12, 18 and 24 months of age, respectively. There were no significant associations between seroreversion and several risk factors, such as gender, birth weight, gestational age, mode of delivery, postpartum prophylaxis and antiretroviral treatment duration. The mean value of HIV-specific immunoglobulin G concentration decreased from 15.4 at day 42 to 0.03 after 24 months in HIV-exposed, uninfected infants. CONCLUSIONS: Clearance of HIV antibodies could take more than 18 months in a small number of perinatally exposed infants. Caution should be used in excluding or diagnosing perinatal HIV infection in children with long persistence of HIV antibodies.

Twisted Magnon as a Magnetic Tweezer.

Wave fields with spiral phase dislocations carrying orbital angular momentum (OAM) have been realized in many branches of physics, such as for photons, sound waves, electron beams, and neutrons. However, the OAM states of magnons (spin waves)-the building block of modern magnetism-and particularly their implications have yet to be addressed. Here, we theoretically investigate the twisted spin-wave generation and propagation in magnetic nanocylinders. The OAM nature of magnons is uncovered by showing that the spin-wave eigenmode is also the eigenstate of the OAM operator in the confined geometry. Inspired by optical tweezers, we predict an exotic "magnetic tweezer" effect by showing skyrmion gyrations under twisted magnons in the exchange-coupled nanocylinder-nanodisk heterostructure, as a practical demonstration of magnonic OAM transfer to manipulate topological spin defects. Our study paves the way for the emerging magnetic manipulations by harnessing the OAM degree of freedom of magnons.

Metformin plus megestrol acetate compared with megestrol acetate alone as fertility-sparing treatment in patients with atypical endometrial hyperplasia and well-differentiated endometrial cancer: a randomised controlled trial.

OBJECTIVE: To assess the efficacy of metformin in megestrol acetate (MA)-based fertility-sparing treatment for patients with atypical endometrial hyperplasia (AEH) and endometrioid endometrial cancer (EEC). DESIGN: A randomised, single-centre, open-label, controlled trial conducted between October 2013 and December 2017. SETTING: Shanghai OBGYN Hospital of Fudan University, China. POPULATION: A total of 150 patients (18-45 years old) with primary AEH or well-differentiated EEC were randomised into an MA group (n = 74) and an MA plus metformin group (n = 76). METHODS: Patients with AEH or EEC were firstly stratified, then randomised to receive MA (160 mg orally, daily) or MA (160 mg orally, daily) plus metformin (500 mg orally, three times a day). MAIN OUTCOMES AND MEASURES: The primary efficacy parameter was the cumulate complete response (CR) rate within 16 weeks of treatment (16w-CR rate); the secondary efficacy parameters were 30w-CR rate and adverse events. RESULTS: The 16w-CR rate was higher in the metformin plus MA group than in the MA-only group (34.3 versus 20.7%, odds ratio [OR] 2.0, 95% confidence interval [CI] 0.89-4.51, P = 0.09) but the difference was more significant in 102 AEH patients (39.6 versus 20.4%, OR 2.56, 95% CI 1.06-6.21, P = 0.04). This effect of metformin was also significant in non-obese (51.4 versus 24.3%, OR 3.28, 95% CI 1.22-8.84, P = 0.02) and insulin-sensitive (54.8 versus 28.6%, OR 3.04, 95% CI 1.03-8.97, P = 0.04) subgroups of AEH women. No significant result was found in secondary endpoints. CONCLUSION: As a fertility-sparing treatment, metformin plus MA was associated with a higher early CR rate compared with MA alone in AEH patients. TWEETABLE ABSTRACT: For AEH patients, metformin plus MA might be a better fertility-sparing treatment to achieve a higher early CR rate compared with MA alone.

[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease].

Objective: Explore the application of plasma glucosylsphingosine level in the follow-up treatment of patients with Gaucher disease. Methods: Two groups of patients with Gaucher disease were enrolled, who regularly received imiglucerase treatment in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine between January 2017 and July 2020. Group 1 was 6 initially treated patients, including 1 case of chitotriosidase deficiency, aged 10-43 years old, 4 females and 2 males. The blood routine test, chitotriosidase activity and plasma glucosylsphingosine level were measured during pre-and post-treatment. Group 2 were 6 cases of Gaucher disease including 3 cases of chitotriosidase deficiency, who received long-term specific treatment in the same hospital, aged 17 to 32 years, 2 females and 4 males. The plasma glucosylsphingosine level was detected in the follow-up treatment during January 2017 to July 2020. Results: Patients in group 1 had a significant increase in plasma platelets after 12 months of treatment (P<0.05), and also a significant increase in plasma hemoglobin after 30 months of treatment (P<0.05). The chitotriosidase activity of 5 patients in group 1 significantly decreased after 18 months of treatment (P<0.05), the median value of the chitotriosidase activity decreased by 7 278 nmol·ml(-1)·h(-1) at 30 months of treatment. While only 3 months after treatment, the plasma glucosylsphingosine levels of 6 patients in group 1 decreased significantly (P<0.05), the median value of the glucosylsphingosine levels decreased by 259.7 µg/L at 30 months of treatment. The plasma glucosylsphingosine levels in group 1 patients were positively correlated with chitotriosidase activity, with spearman of 0.863, P<0.001. In group 2, 6 patients with Gaucher disease that had been treated for a long period of time, showed normal peripheral blood routine tests, normal liver and spleen volume. However, the plasma glucosphingosine levels in group 2 patients decreased significantly during 2017-2020 (P<0.05). Compare to the initial values, the median value of the last glucosphingosine levels in group 2 patients had been reduced by 23.4 µg/L. Conclusion: The detection of plasma glucosylsphingosine levels in patients with Gaucher disease could be used for short-term and long-term follow-up of treatment.

[Clinical evaluation of gallbladder and common bile duct stones treated though cholecystostomy tube].

Objective: To investigate the efficacy, feasibility and safety of treatment of gallbladder and common bile duct stones treated through cholecystostomy tube. Methods: The clinical data of 17 patients with gallbladder and common bile duct stones treated through cholecystostomy tube from January 2012 to December 2016 was analyzed retrospectively. Results: Seventeen patients were successfully treated with percutaneous transhepatic gallbladder (PTGD), and 88.2% (15/17) patients had clinical symptom relief. There was no complication happened after PTGD and fistula expansion. All the stones were removed and there was 11.7% (2/17) of gallbladder bleeding, 5.9% (1/17) of pancreatitis, and 5.9% (1/17) of hyperamylasemia after stones extraction. The patients had gone through an average treatment period of 87.8±16.0 days, hospitalization of 5.5±0.6 times and 43.3±4.5 days, cost of 60.0±8.0 thousand, 6.9±0.9 operations, 1.4±0.6 stone extraction operations with the average time of 58.4±21.2 min. The duodenal papillary balloon dilatation rate was 82.4% (14/17). Conclusion: The treatment through cholecystostomy tube is an effective, safe and feasible technique for gallbladder and common bile duct stones. However, there are many shortcomings such as long treatment cycle, large number of hospitalization and operations, difficult operation and high cost.

[Preoperative evaluation of sentinel lymph node biopsy using contrast-enhanced ultrasonography in early breast cancer patients and the involved disturbing factors].

Objective: To explore the preoperative evaluation of sentinel lymph node (SLN) biopsy using contrast-enhanced ultrasonography (CEUS) in early breast cancer patients and the involved disturbing factors. Methods: Eighty-three female early breast cancer patients who underwent concurrent surgery in the Affiliated Cancer Hospital of Zhengzhou University between January 2017 and May 2018 were enrolled. CEUS was used to seek SLN and determine lymph node metastasis after signature of preoperative informed consent. Rapid pathological examination was used to determine whether metastasis existed in SLN. The sensitivity, specificity, accuracy, the differences between CEUS and pathological results, and the involved disturbing factors were evaluated. Results: A total of 212 SLNs were detected by CEUS and SLN biopsy with an average of 2.6 SLNs detected per patient, including 39 SLNs with cancer metastasis (18.4%) and 173 SLNs without cancer metastasis (81.6%). Among the 83 patients, 29 patients were predicted SLN-positive preoperatively utilizing CEUS (including 21 cases with SLN pathological metastasis and 8 cases with non-metastasis), 54 patients were predicted SLN-negative (including 5 cases with SLN pathological metastasis and 49 cases with non-metastasis). The preoperative evaluation of SLN utilizing CEUS were performed with a sensitivity of 80.8% (21/26), specificity of 86.0% (49/57), positive predictive value of 72.4% (21/29), and negative predictive value of 90.7% (49/54), positive likelihood ratio of 5.75, negative likelihood ratio of 0.22, and the accuracy of 84.3% (70/83), respectively. The area under the ROC curve (AUC) was 0.834 (95% CI: 0.736-0.906). The primary tumor mean size of SLN-negative group predicted preoperatively utilizing CEUS was (1.78±0.14) cm, and that of the SLN positive group was (2.64±0.19) cm. The difference between the two groups was (0.86±0.24) cm with statistical significance (P=0.000 6). The SLN mean size of SLN-negative group (141 SLNs) was (1.41±0.05) cm and that of SLN-positive group (71 SLNs) was (1.69±0.07) cm. The difference between the two groups was (0.28±0.09) cm with statistical significance (P=0.002 8). Conclusions: Preoperative CEUS possesses the predictive value for SLN metastasis in early breast cancer. The predicted results may be influenced by the primary tumor size and the SLN size.

[Analysis of recurrence and its influencing factors in patients with cervical HSIL within 24 months after LEEP].

Objective: To analyze clinical outcome of high grade squamous intraepithelial lesion (HSIL) within 24 months after loop electrosurgical excision procedure (LEEP), and to explore risk factors of recurrent cervical HSIL, the risk of progress into cervical cancer and methods of follow-up. Methods: This retrospective study was carried out on 1 005 patients who underwent LEEP, diagnosing with HSIL after LEEP from January 2011 to December 2013 at Obstetrics and Gynecology Hospital Affiliated to Fudan University to confer the difference between non-recurrent group and recurrent group 24 months after the LEEP conization. Patients were followed with ThinPrep cytologic test (TCT), high risk HPV (HR-HPV) test, colposcopy guided biopsy. Results: A total of 1 005 cases were enrolled in this study with HSIL in the LEEP specimen, no residual HSIL in the 6-month follow up, and have follow up records in 24 months after LEEP. HSIL recurred in 5 cases, microinvasive carcinoma in 1 case, low grade squamous intraepithelial lesion (LSIL) in 17 cases at 12 months follow-up. HSIL recurred in 8 cases, LSIL in 11 cases, adenocarcinoma in situ in 1 case, and invasive cervical carcinoma in 1 case in Ⅰb1 stage at 24 months after LEEP. The recurrence rate was 1.3% (13/1 005) , and the progression rate was 0.3% (3/1 005) . There was no significant difference in age, length, circumference and width of LEEP between recurrent and non-recurrent patients (P>0.05) . The recurrence rate was highest in the endocervical positive margin group with 3/16, which was higher than ectocervical positive margin and negative margin (P<0.01, P=0.040, respectively). The recurrence rate of endocervical positive margin group and fibrous interstitial positive margin group showed no significant difference (P=0.320) . There was no significant difference between ectocervical positive margin and negative margin [2.8% (2/72) vs 0.7% (6/882), P=0.117]. Postoperative cytological examination combined with HR-HPV detection has a high sensitive and high negative predictor value of HSIL recurrence with both 100.0%. Multivariate logistic regression analysis showed that positive endocervical positive margin, abnormal follow-up cytological examination and positive HR-HPV after LEEP were independent factors affecting recurrence of HSIL patients after LEEP (P<0.05). Conclusions: Age, length, circumference and width of LEEP have no effect on recurrence within 24 months after HSIL. The high risk factors for HSIL recurrence within 24 months after LEEP in HSIL patients include: positive HPV, abnormal cytology, and positive endocervical positive margin. Colposcopy biopsy and endocervical curettage have important role in diagnosing HSIL recurrence and progression.

Elevated lipoprotein (a) levels are associated with the presence and severity of coronary artery disease in patients with type 2 diabetes mellitus.

BACKGROUND AND AIMS: The role of lipoprotein (a) [Lp(a)] in coronary artery diseases (CAD) with special clinical background such as type 2 diabetes mellitus (T2DM) has not been fully determined. The aim of the present study was to investigate the relation of Lp(a) to type 2 diabetic patients with or without CAD. METHODS AND RESULTS: A total of 2040 consecutive patients with T2DM who received selective coronary angiography (CAG) due to angina-like chest pain were enrolled. The patients were subsequently divided into CAD and non-CAD groups according to the results of CAG. The severity of CAD was evaluated by the Gensini Score (GS), number of stenotic vessels, and history of myocardial infarction (MI). Data showed that Lp(a) levels were higher in the CAD group than in the non-CAD group (median: 15.00 mg/dL vs. 11.88 mg/dL, P = 0.025). The results from CAD subgroup analysis indicated that the patients with MI, multiple-vessel disease and high GS had higher Lp(a) levels compared with those in their matched subgroups (P < 0.05, respectively). After adjustment for confounders, Lp(a) levels were independently related to the presence and severity of CAD (CAD:OR = 1.564; MI:OR = 1.523; high GS:OR = 1.388; multiple-vessel disease:OR = 1.455; P < 0.05, respectively). CONCLUSION: Elevated Lp(a) levels were independently associated with the presence and severity of CAD in patients with T2DM. More studies are necessary to confirm our findings.

Selection of Differential Isolates of Magnaporthe oryzae for Postulation of Blast Resistance Genes.

A set of differential isolates of Magnaporthe oryzae is needed for the postulation of blast resistance genes in numerous rice varieties and breeding materials. In this study, the pathotypes of 1,377 M. oryzae isolates from different regions of China were determined by inoculating detached rice leaves of 24 monogenic lines. Among them, 25 isolates were selected as differential isolates based on the following characteristics: they had distinct responses on the monogenic lines, contained the minimum number of avirulence genes, were stable in pathogenicity and conidiation during consecutive culture, were consistent colony growth rate, and, together, could differentiate combinations of the 24 major blast resistance genes. Seedlings of rice cultivars were inoculated with this differential set of isolates to postulate whether they contain 1 or more than 1 of the 24 blast resistance genes. The results were consistent with those from polymerase chain reaction analysis of target resistance genes. Establishment of a standard set of differential isolates will facilitate breeding for blast resistance and improved management of rice blast disease.