OBJECTIVE: To study the clinical features of electrical status epilepticus during sleep (ESES) in children, as well as the clinical effect of methylprednisolone pulse therapy in children with ESES. METHODS: A retrospective analysis was performed using the clinical data of 78 children with ESES. Among these children, 56 children who had had the failure of antiepileptic drugs were treated with methylprednisolone pulse therapy at a dose of 15-20 mg/(kg·d) for three courses. Each course of treatment was 3 days, followed by oral prednisone [1-2 mg/(kg·d)] for 3 days. The role of methylprednisolone pulse therapy in eliminating ESES, controlling clinical seizures, and improving intelligence and behaviors was analyzed. RESULTS: The mean age of onset of epilepsy in 78 children was 6.8±2.4 years, and the mean age for the first occurrence of ESES was 7.6±2.5 years. Compared with normal children, children with ESES had delayed intelligence development and higher scores of some behavior problems. Methylprednisolone pulse therapy had an overall response rate of 73% (41/56) on clinical seizures, and the overall response rate on electroencephalography (EEG)/spike-wave index was 70% (39/56) after treatment. There were significant improvements in verbal intelligence quotient, performance intelligence quotient and full intelligence quotient, and significant reductions in the scores of learning problems, impulse-hyperactivity and hyperactivity index after treatment (P<0.05). The overall recurrence rate after 1-year follow-up was 29% (11/38). CONCLUSIONS ESES often presents around school age and impairs children's intelligence and behaviors. Methylprednisolone pulse therapy has a marked efficiency in reducing clinical seizures and EEG discharges in children with ESES and can improve intelligence and behavior development, but the recurrence rate remains high.
Anticonvulsants ; Child ; Child, Preschool ; Electroencephalography ; Follow-Up Studies ; Humans ; Methylprednisolone ; therapeutic use ; Retrospective Studies ; Sleep ; Status Epilepticus ; drug therapy

Objective To investigate the incidence and distribution of fetal discrepancy during the first trimester in dichorionic twins.Methods This was a prospective analysis of dichorionic twin pregnancies that underwent 11+0～ 13+6 week scan at a tertiary hospital from Sep 2008 to Oct 2010.Differences in crown-rump length (CRL),nuchal translucency ( NT),heart rate ( HR).deepest vertical pockets of amniotic fluid (DVP) for every pair of twin fetuses were calculated and expressed as absolute value and percentage of discordance.Results A total of 66 dichorionic twin pregnancies were included.The average CRL was significantly different between the larger fetus and the smaller one,which were (65.28 ±8.54)mm and (62.34 ± 8.49) mm respectively ( P ＜ 0.001).The average NT was significantly different between two fetuses,which were ( 1.56 ± 0.35) mm and (1.28 ± 0.30) mm respectively. HR and DVP were also statistically different between two fetuses ( P ＜0.001).Conclusions The growth of two fetuses in normal dichorionic twins is not uniform during the first trimester.

ObjectiveTo evaluate the diagnostic capability of prenatal ultrasound in diagnosis of fetal akinesia deformation sequence (FADS).MethodsThe prenatal sonographic characteristics of 5 fetuses with FADS were analyzed retrospectively.ResultsBoth multiple joint contractures and central nervous system (CNS) anomalies,which include 5 small head circumferences,2 short cerebellar diameters,and 1 flat forehead,were found by prenatal ultrasound in all 5 FADS fetuses.Additional fetal abnormalities such as micrognathia,polyhydramnios,short umbilical cord and intrauterine growth retardation were also observed.The results of fetal chromosome analysis were available in 2 cases indicating normal karyotype.Conclusions Prenatal identification and diagnosis of FADS is possible based on the findings of sonographic examination.

Objective To investigate the clinical value and method of fetal tricuspid regurgitation in the first trimester.Methods Fetuses were performed ultrasonography at 11 to 14 gestational weeks,measuring crown rump length,nuchal translucency and acquiring tricuspid waveform.All the fetuses were followed up until 6 months after birth,including prenatal ultrasound examination,maternal serum biochemistry and karyotype test.Results A total of 262 fetuses were performed ultrasonography in the first trimester,the tricuspid waveform were acquired successfully in 249 (95%).Nine cases with tricuspid regurgitation were detected,including 3 cases of trisomy 21,3 cases with complex heart defects,one case with omphalocele,two resulted in intrauterine death and one case of normal chromosome and phenotype.Conclusions Tricuspid waveform is relatively easier to examine and assessment.Tricuspid regurgitation is a useful first-trimester ultrasound marker for the detection of chromosomal abnormalities,cardiac defects,and adverse pregnancy outcome.

Objective To determine the diagnostic value of two and three dimensional ultrasound in detecting fetal hand malformations. Methods In the retrospectively analysis,the severe fetal hand malformations detected by prenatal ultrasound during the recent three years in our hospital were classified according to the prenatal sonographic characteristics,family history,karyotype analysis and autopsy results,etc.Results Fourteen fetuses with hand-anomaly were detected during the 16-28th week of gestation,both hands were affected in 10 cases,with the same morphology bilaterally in 8 cases.Thirteen cases had other abnormal sonographic findings.They were detected and classified into three categories,Wrist deformity (9 cases),three fetuses were associated with total absence of radius and radial clubhand,and six fetuses had palmar deviated hands,with various etiologies including familial hereditary arthrogryposis multiplex congenita,distal type 1 (AMCD1),amniotic band syndrome,body stalk anomaly,trisomy18 and micromelia.Hand (figer) hypoplasia or aphasia (3 cases),one hand was absent in one fetus without associated anomaly,absence of five fingers with ipsilateral multicystic dysplastic kidney in the second fetus,and the third fetus had split hand/foot malformation (SHFM).Overlapping fingers (4 cases),three of them were trisomy18,and two fetuses had both wrist deformity and overlapping fingers.Conclusions Prenatal two and three dimensional ultrasound play an important role in detecting and diagnosing severe type of fetal hand malformations.

Objective To investigate the diagnostic value of prenatal ultrasonography in the fetal hemivertebra. Methods The ultrasonographic findings of three fetuses with hemivertebra diagnosed in our hospital were reviewed and compared with those of postnatal ultrasonography,other image modalities,and autopsy. Results In all fetuses,a distortion of the spine was observed where only one half of the vertebra could be identified. The parents opted for termination of the pregnancy in one case and the deformity was confirmed by autopsy. The other two fetuses were delivered and in one fetus the diagnosis was confirmed by radiological assessment. Conclusions Hemivertebra can be diagnosed accurately by second-trimester ultrasonography. The prognosis is mostly favorable when no other anomalies are associated. Meticulous examination may disclose the lesion and help decide the fate of pregnancy.

Objective To investigate the diagnositic value of ultrasonography in fetuses with cystic biliary malformation. Methods Three cases of cystic biliary malformation diagnosed in our hospital by prenatal ultrasound were followed up until surgery after birth. Results In all three cases.an anechoic cystic lesion was detected in the right upper abdomen at 16,26,34 weeks' gestation respectively, which were diagnosed as biliary cystic malformation by prenatal ultrasound. Two cases were confirmed as choledochal cyst by surgery, one case as biliary atresia. The maximum diameter during pregnancy of choledochal cyst were 3. 9 cm and 4.2 cm respectively, which increased steadily as gestational age advanced, with normal gallbladder in continuity with the choledochal cyst. But the largest diameter of the cyst in congenital biliary atresia was 1.7 cm and remained unchanged throughout the remaining pregnancy, the gallbladder could not be detected or an irregular small gallbladder was shown. Excision of the cyst and Roux-en-Y hepaticojejunostomy were successfully performed in all three cases. Postoperative course were uneventful. Conclusions Cyst diameter, change in size, gallbladder ultrasound pattern may allow to make a prenatal differential diagnosis of biliary tree cystic malformation. Small and stable cyst with an undetected gallbladder or small gallbladder is more suggestive of biliary atresia than choledochal cyst. Precise imaging may facilitate prenatal counseling and perinatal management. The outcomes had improved with earlier operations.

Objective To investigate the role of two-dimensional ultrasound (2DUS) and three-dimensional ultrasonography (3DUS) in the measurement of fetal frontomaxillay facial (FMF) angle. Methods FMF angle in fetuses at 11~(+0) to 13~(+6) weeks were measured with 2DUS and 3DUS respectively. The difference between measurements and reproducibility were compared, and the relationship between FMF angle measured with 3DUS and crown-rump length (CRL) was assessed.Results FMF angle was obtained in 37 fetuses. Assessable fetuses increased with increased CRL, while the values of FMF angle decreased. Qualified 3D volumes were obtained from 30/37 (81.08%) fetuses, while qualified 2D measurements were available in 18/37 (48.65%) fetuses. For the same fetus, the difference between two measurements with 3DUS was significantly less than that with 2DUS (1.68°±1.01° vs 2.78°±1.95°, P<0.01). For the 11 fetuses assessed with both methods, the values of FMF angle obtained with two methods were not significant different. There was significant negative correlation between FMF angle and fetal CRL (r＝-0.540,P<0.01).Conclusion FMF angle in fetuses at 11~(+0) to 13~(+6) weeks can be achieved rapidly and accurately with 3DUS.

OBJECTIVETo investigate the role of Rictor/mTORC2 in the formation of blood testis barrier (BTB), testicular development, and spermatogenesis.

METHODSAmh Cre positive mice homozygous for rictor loxP with Sertoli cell specific deletion of rictor were obtained by cross breeding Amh Cre mice with rictor loxP mice. The histology of the reproductive organs, seminiferous tubules and epididymis of the transgenic mice was observed with HE staining. The cell subgroups of the germ cells in the seminiferous tubule were detected by flow cytometry with propidium iodide labeling. The expression levels of Ki 67 and separase were detected with immunofluorescence assay, and the expression levels of BTB associated proteins were detected with immunofluorescence and Western blotting.

RESULTSCompared with the control (Amh Cre, rictoror rictor) mice, the mice with Sertoli cell specific rictor deletion showed significantly decreased testicular weight and epididymis weight (P<0.05), significantly increased diploid cells (P<0.01), and decreased haploid cells (P<0.01) but comparable tetraploid cells and similar expression levels of Ki 67 and separase. The mice with rictor knockout also showed aberrant localization of BTB associated proteins, which were scattered over the whole seminiferous epithelium, but the expression levels of the protein remained stable.

CONCLUSIONRictor in testicular Sertoli cells is essential for maintaining BTB integrity and function and ensuring normal spermatogenesis in mice.

Adult ; Hepatitis B ; prevention & control ; Humans ; Immunity, Active ; Liver Transplantation ; immunology ; methods ; Male ; Postoperative Complications ; prevention & control