Objective:To investigate the prevalence of norovirus and the correlation between norovirus infection and stool traits and clinical symptoms in children with acute gastroenteritis during 2021-2022.Method:A total of 2 195 anal swab samples were collected from cases of acute gastroenteritis in Beijing Children 's Hospital Affiliated to Capital Medical University from January 2021 to December 2022. PCR fluorescent probe assay was performed to detect norovirus，the clinical information and test results were performed by statistical analysis. Results:The detection rate of norovirus was 19.09%（419/2 195）in 2 195 children. The detection rates of male and female were 17.80%（244/1 371）and 21.24%（175/824），respectively，with statistically significant differences between genders（ χ2=3.945, P<0.05）. The positivity rate of noroviruses was higher in aged 1 month to 3 years［29.09%（64/220）~40.69%（94/231）］，especially in 1 year［40.69%（94/231）］. The norovirus detection rate ranged from 2.44%（2/82）to 35.84%（62/173）in different months，with a high detection rate between January and March，higher in the winter and spring［28.36%（150/529），21.07%（146/693）］，showing a clear seasonal distribution.Clinical symptoms of both vomiting and diarrhea were significantly more common among norovirus positive than negative children，the difference was statistically significant（ χ2=57.29, P<0.05）. Conclusion:In the high incidence season of winter and spring，for infants and young children aged 1 month to 3 years with diarrhea accompanied by vomiting symptoms，especially those aged 1 year，it is recommended to undergo norovirus related testing in time. Early treatment and isolation measures should be taken for diagnosed children to reduce cross infection and prevent outbreaks.

Objective To evaluate the feasibility and effectiveness of enhanced recovery after surgery(ERAS)in minimally invasive surgery for adrenal tumors.Methods A total of 139 patients underwent retroperitoneal laparoscopic adrenalectomy were selected in this study.The maximum tumor diameter was≤6.0 cm.According to the perioperative plan,patients were divided into the ERAS group(n=65)and the conventional group(n=74).The general information(age,gender,tumor location and tumor diameter),surgical indicators(surgical time and surgical blood loss),postoperative rehabilitation indicators(first off-bed ambulation time,first exhaust time,postoperative catheterization time,postoperative drainage tube retention time and postoperative hospitalization time)and incidence of complications were compared between two groups of patients.Results There were no significant differences in gender,age,tumor location,tumor diameter,surgical time and surgical blood loss between the two groups of patients(P＞0.05).In the ERAS group,first off-bed ambulation time,first exhaust time,the indwelling duration of catheters and drainage tubes were shorter than those in the conventional group,and the overall incidence of postoperative complications was lower in the ERAS group than that in the conventional group(P＜0.05).Conclusion The ERAS protocol is safe and feasible for minimally invasive surgery in patients with adrenal tumors with a maximum tumor diameter of≤6.0 cm.

Humans ; COVID-19/genetics* ; SARS-CoV-2/genetics* ; Clustered Regularly Interspaced Short Palindromic Repeats/genetics* ; CRISPR-Cas Systems/genetics* ; RNA, Viral/genetics*

Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.

Objective:To investigate the effect of peripheral plus ring size and its potential associations with pupil diameter (PD) on axial length (AL) elongation in myopic patients after wearing orthokeratology lenses.Methods:A case-control study was conducted.One hundred eyes from 100 myopic patients who underwent orthokeratolokgy lenses fitting were enrolled at Beijing Ming Vision and Ophthalmology from January to June 2020.AL and central corneal thickness (CCT) measurements were obtained using Lenstar LS900 ocular biometry, and steep keratometry (Ks), flat keratometry (Kf) were assessed using the TMS-4 corneal topographer.The patients were divided into larger peripheral plus ring diameter (LPPRD) group consisting of 55 eyes with PD0.05). There was no significant difference in PD at different time points before and after wearing orthokeratology lenses between the two groups ( Fgroup=1.133, P=0.293; Ftime=231.427, P=0.112). Conclusions:The size of peripheral plus ring and its relationship with PD are key factors influencing the AL elongation rate in myopic patients after wearing orthokeratology lenses.With smaller PPRD, patients have slower AL elongation and better myopia control.

In order to optimize the undergraduate teaching methods and improve students' comprehensive competitiveness, this study explored the scientific research training methods of medical laboratory undergraduates during medical internship. On the premise of ensuring that students carry out clinical practice according to the internship plan, the research group leads students to carry out scientific research training in their spare time. The scientific research training was divided into two stages. In the first stage, on the basis of informed consent and independent choice, the students in the control group were trained by self-regulated learning and teachers' question answering, while the students in the experimental group were trained by the way of centralized scientific research lectures and scientific research practice. In the second stage, all the students were in independent research and exploration under the guidance of teachers within 5 months. The results showed that in the process of independent research, the time of topic selection in the experimental group [(3.5±1.1) days] was significantly shorter than that in the control group [( 5.4 ± 1.9) days], and the time of topic design in the experimental group [(12.2±2.5) days] was significantly shorter than that in the control group [(14.6±3.1) days]. It shows that carrying out scientific research training in the medical internship stage of undergraduates is helpful to increase the efficiency of students' later independent research and accelerate the process of independent research.

Objective:To evaluate the dose calculation accuracy of cone-beam CT (CBCT) image by actual measurement method.Methods:CBCT images of 60 patients in the Second Affiliated Hospital of Soochow University from September, 2021 to May, 2022 were retrospectively analyzed. CBCT images of full-fan and half-fan scanning of the head, half-fan scanning of the chest and pelvis were obtained by the Varian OBI system. Hounsfield unit - electron density (HU-ED) curves corresponding to the scanning conditions were established with CIRS electron density phantom. The radiotherapy plans were designed on the CBCT images, and the dose calculation results of the detection point were compared with the ionization chamber measurement results to analyze the dose error. Then, three-dimensional dose verification system was adopted to detect the accuracy of the CBCT image radiotherapy plans implementation process in 60 patients, and the accuracy of dose calculation was verified according to the D 99%, D mean, D 1% of target volume, D mean and D 1% of organs at risk (OAR), and the γ pass rate. Results:In point dose detection in phantom, the dose calculation errors of CBCT images in the above four scanning patterns were -1.06%±0.87%、-1.67%±0.86%, 0.91%±0.73%, -1.54%±0.90%, respectively. In dosimetric verification based on patients' CBCT image treatment plan, the mean difference of D mean, D 99%, and D 1% of planning target volume (PTV) in all scanning modes were not higher than 2%, and the D mean and D 1% differences of other OAR were not higher than 3%, except for the lens of patients in the head. The average γ values of target volume and OAR were less than 0.5 under the criteria of 3%/2 mm. Conclusions:Under the condition of correctly establishing HU-ED curves, intensity-modulated radiation therapy (IMRT) / volumetric-modulated arc therapy (VMAT) planning based on CBCT images can be employed to estimate and monitor the actual dose to target volume and OAR in adaptive radiotherapy. Full-fan scanning patterns can further improve the accuracy of dose calculation for the head of patients.

Objective:To study the incidences of complications in twins with birth weight discordance (BWD) during hospitalization.Methods:From January 2011 to December 2020, twins born in the Department of Obstetrics and hospitalized in NICU of our hospital were retrospectively studied. Twins with BWD>15% were assigned into BWDT group and BWD≤15% into twins with birth weight concordant (BWCT) group. Complications during hospitalization were compared between the two groups.Results:A total of 1 546 pairs of twins were enrolled, including 486 (31.4%) in BWDT group and 1 060 (68.6%) in BWCT group. Compared with BWCT group, BWDT group had significantly higher incidences of pulmonary surfactant (PS) utilization (47.7% vs. 42.2%), continuous positive airway pressure ≥ 24 h (40.5% vs. 35.0%), high-flow nasal cannula ≥ 24 h (22.8% vs. 16.3%), neonatal respiratory distress syndrome (52.9% vs. 47.1%), bronchopulmonary dysplasia (BPD) (15.6% vs. 11.1%), persistent pulmonary hypertension of the newborn (3.1% vs. 1.4%) and anemia (79.6% vs. 70.1%) (all P<0.05). After adjusting for confounding factors, the risks of pulmonary hemorrhage ( OR=2.036, 95% CI 1.119-3.703, P=0.020) and BPD ( OR=2.960, 95% CI 1.656-5.219, P=0.010) in BWDT group were higher than BWCT group. Conclusions:BWD twins has higher incidences of complications during hospitalization than BWC twins.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

OBJECTIVE: To explore the genetic basis for three children with Menkes disease. METHODS: The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals. RESULTS: Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2). CONCLUSION Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.
Case-Control Studies ; Child ; Copper-Transporting ATPases/genetics* ; Exons ; Family Health ; High-Throughput Nucleotide Sequencing ; Humans ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Pedigree