Objective:To explore the correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy (DEE). Methods:Clinical data of 46 children with DEE and SCN1A variants identified at the Guangzhou Women and Children′s Medical Center between January 2018 and June 2022 were collected. The children were grouped based on their age of onset, clinical manifestations, neurodevelopmental status, and results of genetic testing. The correlation between SCN1A genotypes and clinical phenotypes was analyzed. Results:Among the 46 patients, 2 children (4.35%) had developed the symptoms before 3 months of age, 42 (91.30%) were between 3 to 9 months, and 2 cases (4.35%) were after 10 months. Two cases (4.35%) presented with epilepsy of infancy with migrating focal seizures (EIMFS), while 44 (95.7%) had presented with Dravet syndrome (DS), including 28 cases (63.6%) with focal onset (DS-F), 13 cases (29.5%) with myoclonic type (DS-M), 1 case (2.27%) with generalized type (DS-G), and 2 cases (4.55%) with status epilepticus type (DS-SE). Both of the two EIMFS children had severe developmental delay, and among the DS patients, 7 cases had normal development, while the remaining had developmental delay. A total of 44 variants were identified through genetic sequencing, which included 16 missense variants and 28 truncating variants. All EIMFS children had carried the c. 677C>T (p.Thr226Met) missense variant. In the DS group, there was a significant difference in the age of onset between the missense variants group and the truncating variants group ( P < 0.05). Missense variants were more common in D1 (7/15, 46.7%) and pore regions (8/15, 53.3%), while truncating variants were more common in D1 (12/28, 42.9%). Children with variants outside the pore region were more likely to develop myoclonic seizures. Conclusion:The clinical phenotypes of DEE are diverse. There is a difference in the age of onset between individuals with truncating and missense variants in the SCN1A gene. Missense variants outside the pore region are associated with a higher incidence of myoclonic seizures.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

This article reported a survived case of amniotic band syndrome (ABS) following fetal reduction by radiofrequency ablation. The woman conceived monochorionic diamniotic twin pregnancy spontaneously. Prenatal ultrasound at 24 weeks of gestation indicated twin-twin transfusion syndrome (stage Ⅲ), and radiofrequency ablation for fetal reduction was successfully performed after formal consent. At 28 +6 weeks, ultrasound reexamination revealed significant edema in the left foot of the fetus, with banding around the ankle, as well as the strangulation mark and narrowing rings. Fetal ABS (ⅡB stage) was diagnosed after multidisciplinary consultation. An immediate emergency cesarean section was performed and a live male baby was born. A thin amniotic band could be seen wrapping around the left ankle of the newborn for several rounds, with obvious strangulation marks about 1 cm deep into the skin, and significant edema on the dorsum and sole of the foot, and the submalleolus area. The amniotic band was released at once, and the edema faded gradually after surgery. After a follow-up of 28 days, the lower limbs of the newborn became normal.

Objective:Based on the AAPM TG-263, a Content-Based Standardizing Nomenclatures (CBSN) was proposed to explore the feasibility of its standardization verification for organs at risk (OAR) of nasopharyngeal carcinoma (NPC).Methods:The radiotherapy structure files of 855 patients with nasopharyngeal carcinoma (NPC) receiving intensity-modulated radiotherapy (IMRT) from 2017 to 2019(15 of whom showed clinical anomalous structures) were retrospectively collected and processed. The Matlab self-developed software was used to obtain the image position, geometric features, first-order gray histogram, and the Gray-level Co-occurrence Matrix′s texture features of the OAR contour outlined by the doctor to establish the CBSN Location Verification model and CBSN Knowledge Library. Fisher discriminant analysis was employed to establish a CBSN OAR classification model, which was evaluated using self-validation, cross-validation, and external validation, respectively.Results:99%(69/70) of the simulated anomalous structures were outside the 90% reference range of the CBSN Knowledge Library and the characteristic parameters significantly differed among different OARs (all P<0.001). The accuracy rates of self-validation, cross-validation and external verification of the CBSN OAR classification model were 92.1%, 92.0% and 91.8%, respectively. Fourteen cases of clinical abnormal structures were successfully detected by CBSN with an accuracy rate of 93%(14/15). In the simulation test, the accuracy of the left and right location verification reached 100%, such as detecting the right eye lens named Len_L. Conclusion:CBSN can be used for OAR verification of NPC, providing reference for multi-center cooperation and standardized radiotherapy of NPC patients.

Objective:To explore the effects of nursing intervention with pregnant body mass management combined with role -based health education on stage of labor, pelvic floor function recovery, psychological status changes, maternal and neonatal outcomes in primiparas. Methods:From March 2019 on, pregnant body mass management combined with role -based health education nursing was implemented in the hospital. On basis of the theory, nursing regimens of pregnant body mass management combined with role-based health education we formulated. During the period from August 2018 to February 2019, 120 primiparas who underwent delivery in the hospital were randomly enrolled as control group. During the period from August 2019 to February 2020, 120 primiparas were randomly enrolled as observation group. The duration of labor stages, postpartum pelvic muscle strength, scores of Hamilton Depression Scale (HAMD) and Hamilton Anxiety Scale (HAMA), and delivery outcomes were compared between the two groups. Results:After nursing, the cesarean section rate was 20.83% (25/120) in observation group and 32.50% (39/120) in control group, there was significant difference between the two groups ( χ 2 value was 4.176, P<0.05). The spending time of ending the first, second and third stage of labor was (517.27±8.95), (48.33±5.62), (10.26±1.63) min in observation group and (537.31±7.92), (57.29±5.58), (18.28±1.61) min in control group, there was significant difference between the two groups ( t values were 18.369, 12.393, 38.347, P<0.001). After nursing, normal rate of pelvic floor muscle strength was 68.33% (82/120) in observation group and 54.17% (65/120) in control group, there was significant difference between the two groups ( χ 2 value was 5.074, P<0.05). After nursing, scores of HAMD and HAMA were (4.43±1.02), (5.56±0.87) points in observation group and (6.09±1.15), (6.88±0.93) points in control group, there was significant difference between the two groups ( t values were 11.830, 11.354, P<0.05). After nursing, adverse outcome rates of primiparas and neonates were 3.33% (4/120) and 5.83% (7/120) in observation group, and 10.00% (12/120), 15.83% (19/120) in control group, there was significant difference between the two groups ( χ 2 values were 4.286, 6.211, P<0.05). Conclusions:Pregnant body mass management combined with role-based health education nursing is conducive to shortening labor stages of primiparas, improving postpartum pelvic floor muscle strength and adverse emotions, and thus reducing the occurrence of maternal and neonatal adverse outcomes.

Objective To probe into the status and correlation between elder abuse tendency and psychological resilience of family caregivers of the elderly with chronic diseases. Methods Totally 402 family caregivers of the elderly with chronic diseases were investigated by the Chinese version of Caregiver Abuse Screening and Conner-Davidson Resilience Scale. Then the results underwent statistical analysis. Results Nearly 63.68%(256/402) family caregivers had the risk of elder abuse tendency. The median of family caregivers′resilience score was 53, lower than normal population(Z=-10.106, P=0.000), and was significantly negatively correlated with elder abuse tendency(r=-0.480, P=0.000).And caregivers′ high level of resilience was a protective factors for elder abuse tendency. Conclusions Nurses should motivate the family caregivers of the elderly with chronic diseases to adapt successfully when faced stress which could be associated with resilience. Thus the psychological resilience would play a role of protective effect against elder abuse tendency, with the purpose of reducing the risk for abusing the elderly who suffered from chronic diseases.

Objective To probe into the status quo of maltreatment tendency among family caregivers of elderly patients with chronic diseases and its influence factors.Methods Totally 402 family caregivers of the elderly patients with chronic diseases were selected and surveyed by using the Chinese version of caregiver elder abuse assessment scale and the results underwent statistical analysis.Results 63.70％ of family caregivers in elderly patients with chronic diseases had the elder abuse risk tendency and its influence factors were involved with both aspects of family caregivers and the care recipients,including the gender,cultural level and self-care ability of daily living in the elderly patients with chronic diseases and the age,cultural level,care period and living together with elderly in caregivers.Conclusion The elder abuse problem in the patients with chronic diseases should be paid more attention to,which needs the collaboration of multidisciplinary team,various effective ways should be adopted to relieve the family caregivers' pressure for reducing the occurrenc of elder abuse risk.

Objective To study the status of helicobacter pylori (Hp) infection and its correlation with gastroesophageal reflux disease(GERD) .Methods The Physical examination and digestive internal medicine outpatients was chosen for the detailed ques-tionnaire and 14C breath test detection of Hp infection ,investigation of GERD prevalence ,analyzed the relations between Hp infec-tion and GERD sick .Results In 220 cases of healthy check-up person ,Hp positive in 108 cases .There were 238 cases of Hp posi-tive in all GERD patients ,the positive rates of Hp infection for 0 - ≤3 months ,3 - ≤6 months and >6 months GERD patients were 47 .8% 、44 .1% and 27 .5% ,respectively .The positive rates of Hp infection for >6 months were significant lower than other groups (P<0 .01) .Health people who check -up with Hp positive were given Hp eradication therapy ,and emphasized the optimi-zation of self -management behavior ,4 weeks after the review ,eradication rate was 100% ,no obvious adverse reaction in the process of taking the medicine .GERD Hp was given conventional acid and increase the stomach power for 2 weeks ,symptoms after joining Hp eradication therapy ,also emphasized the self - management behavior optimization ,without symptoms worsen . Conclusion Hp infection in patients with different degrees at different stages of GERD .Severe symptoms ,repeated visits patients with low Hp infection rate .There is no GERD related cases after Hp eradication in positive health check-up person .

Objective To research expression changes of COX-2 gene in Barrett′s esophageal mucosa before and after argon plasma coagulation (APC)operation and to explore it′s clinical curative effect and possible mechanism .Methods 66 barrett′s e-sophageal diagnosed with gastroscope and pathology were randomly divided into normal esophageal group (the negative control group ,group A) ,the APC with acid suppression therapy group(group B) ,Acid antimicrobial drug treatment group(group C) .Ob-serve symptom relief condition ,barrett esophagus epithelium ablation under gastroscope before and after treatment ,esophageal mu-cosa tissue samples was detected by real-time fluorescent quantitative PCR technique .Expression of COX-2 gene in barrett′s esoph-ageal mucosa were compared among groups .Results Compared with group A ,both Group B and group C could effectively relieve symptoms (P<0 .05) .Symptom remission rate had no no statistically significant difference in Group B and group C .Barrett esopha-gus epithelium was not significantly narrowed under gastroscope follow-up Group A and group C ,while Barrett esophageal mucosal occurred ablation with pink mucous covered in Group B .The expression of Cox-2 mRNA in group B decreased ,which was similar to group A .The expression of Cox-2 mRNA in group C also decrease ,but there was no significant differences before and after treat-ment .Conclusion APC with acid suppression therapy could effectively relieve symptoms ,melting Barrett esophagus epithelium ,and is of a safe and effective treatment on Barrett′s esophagus .

Objective To investigate the relationship between apolipoprotein E(Apo E) gene poly-morphism and mild cognitive impairment (MCI) in patients with type 2 diabetes mellitus (T2DM), and e-valuate the correlative risk factors. Method 40 cases of type 2 diabetes with MCI and 80 cases of type 2 diabetes without MCI were enrolled in this study. The polymorphism of the Apo E gene was detected by PCR-restriction fragment length polymorphism(PCR-RFLP). According to the clinical data such as course of disease, plasma glucose, plasma fat and body mass index (BMI), the independent risk factors of T2DM and MCI were analyzed by non-conditional logistic regression. Results The frequency of Apo E ε_4 allele in the group of type 2 diabetes with MCI was higher than that without MCI ( 25.0% vs 10. 0% ), and the difference had statistical significance( P < 0. 01 ). The indexes of the statistical significant difference be-twcen the two groups were age, course of disease, postprandial blood glucose ( P2BG), HBA1C, BMI,family history of T2DM, hypertension, diabetic retinopathy, diabetic peripheral neuropathy, Apo E gene. The independent risk factors included diabetic retinopathy ( OR = 3. 452, P < 0. 05 ), diabetic peripheral neuropathy( OR = 3. 252, P <0. 05), Ape E gene( OR = 2. 441, P < 0.01 ), HBA1C ( OR = 1. 372, P <0.05), P2BG(OR = 1. 194, P <0.05), age(OR = 1. 194, P <0.01) and course of disease(OR =1. 142, P <0. 05). Conclusion Apo E ε_4 allele has significant relationship with T2DM and MCI. The age, course of disease, control of plasma glucose, and microvascular complication of diabetes have relation-ship with the cognitive function.