Objective To explore the clinical features,genetic causes and prognosis of intellectual disability with epilepsy(ID-E)in children.Methods The data of unknown causes of ID-E children(n=40)who were identified in Department of Pediatrics,Xiangya Hospital of Central South University from March 2015 to March 2016 were respectively analyzed,and follow-up studies were performed to investigate the epilepsy control and intellectual deve-lopment.Results Forty unexplained ID-E included 25(62.5％)male,and 34(85.0％)cases were severe intellectual disability patients.The onset age of epilepsy was 0.16 to 8.00 years old,median age was 1.5 years old.Twenty cases(50.0％)had slow electroencephalogram background,and 22 cases(55.0％)had focal spikes.Ten cases(25.0％)had abnormal cranial images,with brain dysplasia or atrophy.Follow-up lasted from 0.58 to 1.58 years,and 19 cases(47.5％)had seizure control.Twenty-five cases(62.5％)had used at least 2 anti-epilepsy drugs during follow-up,and 19 cases(47.5％)had drug refractory epilepsy.Improvement of mental or motor development in epilepsy controlled group and the uncontrolled group were 12 cases(63.2％)and 2 cases(9.5％).There were separately 8 cases(8/40 cases,20.0％)and 3 cases(3/16 cases,18.8％)diagnosed respectively by whole genome-wide analysis of copy number variants(CNVs)and gene-panel whose CNVs test findings were negative.Conclusions ID-E patients of unknown causes have the following clinical features:they were mostly found in male patients with severe intellectual disability,and drug refractory epilepsy patients have rather high percentage;well controlling of epilepsy is useful for improvement of mental and motor development.Genetic analysis is significant for control and prognosis of ID-E patients,and genome-wide CNVs have high positive rates which can be used as first-tier test to detect genetic etiology of ID-E of unknown cause.

Objective To study the characteristic findings on magnetic resonance imaging (MRI) in children with cerebral palsy (CP) induced by chronic kernicterus.Methods The MR imagings in 13 CP cases induced by chronic kernicterus were retrospectively studied, which were compared with 6 healthy and age-matched controls. 13 cases were finally diagnosed as dyskinetic cerebral palsy (athetoid subtype).Results In 13 cases, all showed symmetric high signals in the the globus pallidus on T2-weighted imaging. There were not apparent abnormality on T1-weighted imaging.Conclusion The bilateral high intensity signals in the globus pallidus on T2-weighted imaging are the characteristic findings on MRI in CP children induced by chronic kernicterus. Paying attention to the globus pallidus on MRI may be useful in determining the type of cerebral palsy.

Objective:To correlate creatine kinase (CK) and creatine kinase- isoenzyme MB (CK-MB) with different states of bipolar disorder in patients.Methods:A total of 206 patients with bipolar disorder who received treatment in The 7 th People's Hospital of Wenzhou, China between January 2018 and June 2019 were included in the patient group. A total of 369 healthy controls who concurrently received physical examination were included in the control group. CK and CK-MB levels were detected in all participants. The Brief Psychiatric Rating Scale (BPRS), Hamilton Depression Rating Scale (HAMD)-7 scale, the Bech-Rafaelsen Melancholy Scale (BRMS), and modified version of the Overt Aggression Scale (MOAS) were used to evaluate the mental symptoms, depression, mania and aggression of patients. The CK and CK-MB levels were compared between patients with different states of bipolar disorder. Results:In the control group, CK and CK-MB levels in males were 112.5 (94.5, 156.5) U/L and 17.0 (15.0, 20.0) U/L, respectively, which were significantly higher than those in females [73.0 (61.0, 86.3) U/L, 15.0 (13.0, 18.0) U/L, Z = -9.732, -3.535, both P < 0.001). In the patient group, CK and CK-MB levels in males were 129.0 (80.0, 233.5) U/L, 12.0 (10.0, 17.0) U/L, respectively, which were significantly higher than those in females [73.0 (55.0, 94.0) U/L, 13.5 (11.0, 17.0) U/L, Z = -9.510, -4.746, both P < 0.001]. There was no significant difference in CK level in males between the control and patient groups ( Z = -1.003, P = 0.316), but significant difference in CK-MB level in males was observed between the two groups ( Z = -6.570, P < 0.001). There were significant differences in CK and CK-MB levels in females between the control and patient groups ( Z = -2.535, -9.707, P = 0.011, P < 0.001). In the patient group, CK level in the manic, depressive, and symptom-alleviated states was 132.0 (78.0, 297.0) U/L, 85.0 (56.0, 145.0) U/L, 128.0 (110.0, 165.0) U/L respectively in males, and it was 73.0 (49.0, 122.3) U/L, 51.0 (45.0, 67.0) U/L and 84.5 (61.0, 193.0) U/L, respectively in females. There was significant difference in CK level in males and females between different states of bipolar disorder ( χ2 = 9.019, 16.720, P = 0.011, P < 0.001). In males, CK level was correlated with the BPRS total score, BRMS total score, and MOAS total score in the manic state, as well as the BPRS total score in the symptom-alleviated state ( r = 0.282, 0.286, 0.236, 0.574). In females, CK level was correlated with the MOAS total score in the manic state ( r = 0.260). In males, CK-MB level was correlated with the BRMS total score in the manic and depressive states ( r = 0.186 and 0.496). In females, CK-MB level was correlated with the MOAS total score and the BRMS total score in the manic state ( r = 0.155, 0.572). Conclusion:CK and CK-MB levels are correlated with bipolar disorder in different states and they are of certain clinical significance and provide innovative insights into the diagnosis of bipolar disorder.

Objective To explore the application value of stage rehabilitation intervention under the Health action process approach(HAPA)model(SRI-HAPAM)combined with tranexamic acid(TXA)in elderly patients with femoral neck fracture(FNF)undergoing total hip arthroplasty(THA).Methods Elderly FNF patients with unilateral THA in the First Affiliated Hospital of Wenzhou Medical University from December 2022 to June 2023 were enrolled.According to the random number table method,the patients were divided into routine nursing(RN)group and TXA+SRI-HAPAM group.The RN group received conventional treatment after surgery,and the TXA+SRI-HAPAM group received TXA combined with SRI-HAPAM after surgery.The bleeding indexes[hidden blood loss(HBL),explicit blood loss(EBL)and blood transfusion volume(BTV)],and the levels of hemoglobin(Hb),C-reactive protein(CRP)and D-dimer(DD)were compared between the two groups at 24 h after surgery.The hip function[joint deformity(JD),joint function(JF),joint pain(JP),joint motion(JM)and total hip function(THF)],anxiety and depression[self-rating anxiety scale and self-rating depression scale],satisfaction with care,and complications were compared between the two groups at 3 months after surgery.Results A total of 100 elderly patients with unilateral THA due to FNF were included in the study,including 54 in the TXA+SRI-HAPAM group and 46 in the RN group.Before operation,there was no significant difference in Hb,CRP,DD,JD,JF,JP,JM,THF and SAS between the two groups(P>0.05).At 24 hours after operation,Hb decreased in the two groups,while CRP and DD increased(P<0.05),and the decrease in Hb and the increase in CRP and DD,as well as HBL,EBL and BTV in the TXA+SRI-HAPAM group,were lower than those in the RN group(P<0.05).At 3 months after operation,JD,JF,JP,JM and THF in both groups increased compared with those before operation,while SAS and SDS decreased compared with those before operation(P<0.05),and the functional scores of JD,JF,JP,JM and THF in the TXA+SRI-HAPAM group were significantly higher than those in the RN group,and the scores of SAS and SDS were lower than those in the RN group(P<0.05).3 months after surgery,the nursing satisfaction of the TXA+SRI-HAPAM group was significantly higher than that of the RN group,and the total complication rate was lower than that of the RN group(P<0.05).Conclusion Compared the Routine nursing,TXA combined with SRI-HAPAM more effectively promotes postoperative recovery in patients with THA.

OBJECTIVETo assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele.

METHODSClinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group. The cut-off value and area under ROC curve (AUC) of MSAFP and free β-hCG for diagnosis of fetal gastroschisis and omphalocel were analyzed.

RESULTSMSAFP levels of women with fetal gastroschisis and omphalocele were 4.41 (0.88-11.69) MOM and 2.31 (0.72-23.20) MOM, which were significantly higher than that of control group[0.98 (0.41-2.26) MOM, all<0.01]. Free β-hCG level of women with fetal gastroschisis was 1.25 (0.35-19.94) MOM, which was significantly higher than that of control group[0.86 (0.17-6.11) MOM,<0.05). But there were no significant difference in free β-hCG between fetal omphalocele group[1.03(0.21-8.95)]and control group (>0.05). The AUCs of MSAFP for diagnosis of gastroschisis and omphalocele were 0.897 (95%:0.822-0.972) and 0.852(95%:0.762-0.942), respectively (all<0.01). Taking 1.655 MOM as the cut-off value of MSAFP for abdominal wall defects (gastroschisis and omphalocele), the sensitivity was 68.30%, specificity was 99.60% and Youden index was 0.649.

CONCLUSIONSMSAFP of second trimester is a better biomarker than free β-hCG in screening abdominal wall defects.