Cornelia de Lange syndrome is a rare congenital malformation disease,and its typical features include growth restriction,mental retardation,craniofacial abnormality and hirsutism.This study reported 2 cases of CdLS patients,summarized their clinical manifestations and gene mutation characteristics,and the relevant literatures were reviewed.Patient 1,a 5-year-old girl,was admitted to the hospital due to growth retardation.Physical examination revealed hirsutism,monobrow,small and sparse teeth,hemangiomas(approximately 2 cm×2 cm)on the chest and back,delayed language development,and intellectual disability.The height was 98 cm[≤-2 standard deviation(SD)],the weight was 15 kg(-2SD--1SD),the head circumference was 46 cm(-3SD--2SD).Brain magnetic resonance imaging(MRI)plain scan showed slightly enlarged left lateral ventricle and bilateral lateral ventricle triangles,slightly thickened bilateral maxillary sinus and ethmoid sinus mucosa.Echocardiography revealed mild regurgitation of the mitral and tricuspid valves.Patient 2,a 1-month-old girl,was admitted to the hospital due to postpartum shortness of breath.The physical examination highlighted hirsutism,short nose,soft cleft palate,dysphagia,positive three-concave sign,audible throat sound,small hands,palm penetration in the left hand,short fifth finger of the right hand,limited right hip abduction,foot varus,and a white spot at the bottom of the right eye.Ultrasonography at 1 month showed mild regurgitation of the tricuspid valve and an open foramen ovale.Brain MRI at 2 d showed a few patchy low-signal shadows in the longitudinal fissure cistern and tentorium,a small amount of subarachnoid hemorrhage,and a small amount of fluid in the bilateral maxillary sinus,ethmoid sinus,and middle ear mastoid.No obvious structural or numerical abnormalities were observed in the chromosome karyotypes.Whole-exome sequencing detected a heterozygous variation of c.6653_6655del in the NIPBL gene in patient 1 and a heterozygous variation of c.337C＞T in the NIPBL gene in patient 2.These variations were not found in their parents.The study revealed that NIPBL gene variation could be the genetic cause of the two patients with CdLS.The identification of the variation c.337C＞T may expand the variation spectrum of the NIPBL gene,providing valuable insights into the pathogenic genetic basis of CdLS.

Post-stroke cognitive impairment (PSCI), one of the important complications of stroke, seriously affects the quality of life of these patients. PSCI is an important cause of disease burden of stroke. In recent years, more and more evidences show that blood biomarkers are of great significance in PSCI diagnosis, and the detection of blood biomarkers is relatively simple and more suitable for clinical application. Therefore, this paper sorts out the values of 5 blood biomarkers, nerve injury marker, metabolic biomarker, inflammatory biomarker, oxidative stress marker and other biomarker, in diagnosing PSCI, to provide references for early diagnosis and intervention of PSCI.

L-theanine has been shown to have a therapeutic effect on depression.However,whether L-theanine has an excellent preventive effect on depression in children and adolescents and what its mechanism is have not been well explained.Given the complexity of the pathogenesis of depression,this study investigated the preventive effect and mechanism of L-theanine on depression in juvenile rats by combining serum and hippocampal metabolomic strategies.Behavioral tests,hippocampal tissue sections,and serum and hippocampal biochemical indexes were studied,and the results confirmed the preventive effect of L-theanine.Untargeted reversed-phase liquid chromatography-quadrupole-time-of-flight mass spec-trometry and targeted hydrophilic interaction liquid chromatography-triple quadrupole mass spec-trometry were developed to analyze the metabolism changes in the serum and hippocampus to screen for potential biomarkers related to L-theanine treatment.The results suggested that 28 abnormal me-tabolites in the serum and hippocampus that were considered as potential biomarkers returned to near-normal levels after L-theanine administration.These biomarkers were involved in various metabolic pathways,mainly including amino acid metabolism and lipid metabolism.The levels of amino acids and neurotransmitters in the phenylalanine,tryptophan,and glutamic acid pathways were significantly reduced after L-theanine administration compared with chronic unpredictable mild stress-induced rats.In summary,L-theanine had a significant preventive effect on depression and achieved its preventive results on depression by regulating various aspects of the body,such as amino acids,lipids,and inflammation.This research systematically analyzed the mechanism of L-theanine in preventing depression and laid the foundation for applying L-theanine to prevent depression in children and adolescents.

Objective:To analyze the epidemiological characteristics of reinfection of 2019-nCoV and influencing factors, and provide evidence for effective prevention and control of COVID-19 epidemic.Methods:The incidence data of COVID-19 in Ningbo from January 1, 2020 to November 30, 2022 were collected from the infectious disease surveillance system of Chinese information system for disease control and prevention. The incidence of reinfection of 2019-nCoV was investigated by using questionnaire. logistic regression analysis was used to analyze the influences of gender, age, time interval from the first infection, history of underlying disease, 2019-nCoV vaccination dose and disease severity on the reinfection.Results:A total of 897 previous 2019-nCoV infection cases were investigated, of which 115 experienced the reinfection of 2019-nCoV, the reinfection rate was 12.82%. The interval between the two infections M( Q1, Q3) was 1 052 (504, 1 056) days. Univariate analysis showed that age, 2019-nCoV vaccination dose, history of underlying disease, type of 2019-nCoV variant causing the first infection, time interval from the first infection and severity of the first infection were associated with the reinfection rate (all P<0.05). Multivariate logistic regression analysis showed that the risk for reinfection in age group 30- years was higher than that in age group ≥60 years ( OR=2.10, 95% CI: 1.11-3.97). No reinfection occurred in those with time interval from the first infection of <6 months, and the risk for reinfection was higher in those with the time interval of ≥12 months than in those with the time interval of 6- months ( OR=6.68, 95% CI: 3.46-12.90). The risk for reinfection was higher in the common or mild cases than in the asymptomatic cases ( OR=2.64, 95% CI: 1.18-5.88; OR=2.79, 95% CI: 1.27-6.11). Conclusion:The time interval from the first infection was an important influencing factor for the reinfection of 2019-nCoV, and the probability of the reinfection within 6 months was low.

Alzheimer's disease (AD) is the most common form of dementia in the elderly, and there is no specific treatment to stop or reverse its progression. Mild cognitive impairment (MCI) is an important entry point for early diagnosis and prevention of AD. More and more studies have explored the risk factors and biomarkers for conversion from MCI to AD, and a series of risk prediction models have been established. This article analyzes and summarizes the different predictors and risk prediction models so as to provide basis for early identifying the high-risk group of AD, managing the controllable risk factors, and providing references for the selection and improvement of these models.

Objective:To study the clinical value of color Doppler ultrasonography in the diagnosis of persistent sciatic vein(PSV).Methods:A retrospective study was performed on 17 patients who were diagnosed with PSV by color Doppler ultrasound in the Second Hospital of Shandong University and the Shandong Provincial Hospital Affiliated to Shandong First Medical University from May 2010 to December 2021. Their sonographic features were analyzed, summarized and classified.Results:In all the 17 cases, the sciatic vein showed a vein adjacent to the sciatic nerve in the pelvis or back of the thigh. According to anatomy, persistent sciatic vein could be divided into three types: complete PSV, upper PSV and lower PSV. There were 7 cases of complete PSV, 2 cases of upper PSV and 8 cases of lower PSV. Femoral vein dysplasia was found in 11 of 17 patients with PSV. In addition to 1 case of bilateral PSV, the diameter of the femoral vein on the affected side was (0.36±0.19)cm in 16 cases, and the diameter of femoral vein at the corresponding position on the healthy side was (0.61±0.11)cm, there was significant difference between the two groups ( P<0.001). Conclusions:Color Doppler ultrasonography is the effective imaging method for diagnosis of the PSV.

Objective:The purpose of this study was to analyze the expression profile of miRNAs in children with autism spectrum disorders (ASD), and to discuss the clinical significance of differentially expressed miRNAs.Methods:MiRNA microarray was used to analyze the expression of miRNA in peripheral blood of 3 pairs of ASD patients-healthy controls; 17 pairs of ASD patients-healthy controls were used to verify the differentially expressed miRNA; Receiver operating characteristic (ROC) curve was used to analyze the differential expression the value of miRNA in the diagnosis of ASD.Results:A total of 32 differentially expressed genes were screened by 3 pairs of miRNA microarray including 12 up-regulated miRNAs and 20 down-regulated miRNAs. miRNA verification of 20 differentially expressed miRNAs showed miR-15a-5p, miR-27a-3p , miR-142-3p and miR-142-5p were significantly down-regulated in children with ASD, with statistically significant difference (all P<0.05). ROC curve analysis showed that the area under the curve (AUC) of the above four miRNAs diagnosing ASD were all greater than 0.70, with sensitivities 94.12%, 100%, 100%, and 82.35%, respectively. Conclusions:The expression of miR-142-3p, miR-27a-3p/miR-15a-5p, and miR-142-5p is down-regulated in the peripheral blood of ASD patients, and has the potential as biomarkers for early screening of ASD.

Objective:To analyze the influencing factors of catheter-related bloodstream infection (CRBSI) in chronic renal failure (CRF) hemodialysis patients and to construct a risk prediction model.Methods:Using the convenient sampling method, a total of 90 CRF patients who underwent hemodialysis in International Medical Department of Peking Union Medical College Hospital, Chinese Academy of Medical Sciences from May 2018 to May 2021 were selected as the research objects. The gender, age, catheter placement site, catheter type, catheter retention time, catheter care times, tube sealing method, strict hand hygiene, combination with diabetes, hemoglobin, serum albumin, dialysis time, immunosuppressant and other data of the patients were analyzed. Univariate analysis and multivariate Logistic regression were used to analyze the influencing factors of CRBSI in CRF patients and a prediction model was established. Hosmer-Lemeshow (H-L) test and area under the receiver operating characteristic curve ( AUC) were used to verify the fitting effect and discrimination of the model. Results:Among the 90 CRF hemodialysis patients, 16 patients developed CRBSI, with an incidence rate of 17.78% (16/90) . The results of univariate analysis showed that age, catheter placement site, catheter type, catheter retention time, catheter nursing times, strict implementation of hand hygiene, combination with diabetes mellitus, hemoglobin, and serum albumin were the influencing factors of CRBSI in CRF patients ( P<0.05) . Multivariate Logistic regression analysis showed that femoral vein, temporary catheter, catheter retention time greater than 2 weeks, not strictly implementing hand hygiene, complicated with diabetes and serum albumin less than 30 g/L were independent risk factors for CRBSI in CRF hemodialysis patients ( P<0.05) . The H-L test results showed that the model had good goodness of fit (χ 2=7.978, P=0.436) . The receiver operating characteristic curve analysis showed that the AUC of the model was 0.889, the best cut-off value was 0.732, the sensitivity was 81.30% and the specificity was 91.90%. Conclusions:There are many risk factors for CRBSI in RF hemodialysis patients. The establishment of the early warning model is conducive to the early risk assessment of CRBSI occurrence and the formulation of countermeasures to reduce the actual incidence of CRBSI.

Objective:This study aimed to explore variables associated with remission rate and survival in patients with acute myeloid leukemia (AML) after induction failure and relapse.Methods:Data of 373 consecutive patients with AML were analyzed after induction failure and relapse. Binary logistics and the Cox model regression were used to identify variables associated with remission rate and outcomes.Results:In patients with AML after induction failure and relapse, the total CR+CRi rates were 50.6% and 40.3%, respectively; among those who achieved CR/CRi, the 3-year RFS rates were 34.4% and 30.4%, respectively, and the 3-year overall survival rates were 40.1% and 31.6%, respectively. In the multivariate analyses, using CLAG or FLAG regimen as a re-induction chemotherapy regimen, age <39 years and SWOG low-risk were significantly associated with higher remission rates in patients with induction failure. Male, secondary AML, SWOG high-risk, the interval from the first remission to relapse within 12 months, and bone marrow blasts ≥20% at the time of relapse were significantly associated with lower remission rates in relapsed patients. Transplantation was significantly associated with prolonged relapse-free survival and overall survival in patients achieving hematologic remission; the SWOG low-risk group was significantly associated with longer overall survival in those with induction failure; and achieving CR (not CRi) or having female gender was associated with longer RFS or overall survival in relapsed patients.Conclusion:Reinduction chemotherapy regimen, age, gender, SWOG risk, secondary AML, the interval from the first remission to relapse, and bone marrow blast percentage at the time of relapse were significantly associated with remission rates in the patients with AML after induction failure and relapse. Transplantation, SWOG low-risk, achieving CR, or female gender were associated with longer survivals in those achieving remission.

Objective:Donor cytomegalovirus (CMV) serological negative status may have an adverse effect on the outcome of allogeneic hematopoietic stem cell transplantation (allo-HSCT), while there is inadequate data for Chinese people. This study is to explore the impact of donor CMV serological status on the outcome of CMV seropositive patients receiving allo-HSCT.Methods:Our study retrospectively analyzed 16 CMV seropositive patients with hematological malignancies receiving allogeneic grafts from CMV seronegative donors (antibody IgG negative) at Peking University People′s Hospital from March 2013 to March 2020, which was defined as D -/R + group. The other 64 CMV seropositive patients receiving grafts from CMV seropositive donors at the same period of time were selected as matched controls through a propensity score with 1∶4 depending on age, disease state and donor-recipient relationship (D +/R + group). Results:Patients in D -/R + group developed CMV DNAemia later than patients in the D +/R + group (+37 days vs. +31 days after allo-HSCT, P=0.011), but the duration of CMV DNAemia in D -/R + group was longer than that of D +/R + group (99 days vs. 34 days, P=0.012). The rate of CMV reactivation 4 times or more in D -/R + group was 4/16, significantly higher than that of D +/R + group (4.7%, 3/64, P=0.01). The incidences of refractory CMV DNAemia (14/16 vs. 56.3%, P=0.021) and CMV disease (4/16 vs. 4.7%, P=0.01) in D -/R + group were both higher than those in D +/R + group. In addition, the application of CMV-CTL as the second-line antiviral treatment in D -/R + group was more than that in D +/R + group. Univariate analysis and multivariate analysis suggested that CMV serological negativity is an independent risk factor for refractory CMV DNAemia and the duration of CMV infection. The cumulative incidence of aGVHDⅡ-Ⅳ, cGVHD, 3-year probability of NRM, overall survival, and the cumulative incidence of relapse were all comparable in two groups. Conclusions:Although there is no significant effect on OS and NRM, the incidence of refractory CMV DNAemia, the frequency of virus reactivation, and the development of CMV disease in D -/R + group are higher than those in controls. Therefore, CMV seropositive donors are preferred for CMV seropositive patients.