Search

Objective: To investigate the clinical efficacy of letrozole combined with gonadotropin-releasing hormone antagonists (GnRH-ant) in patients at high risk of ovarian hyperstimulation syndrome (OHSS) who underwent total embryo freezing after oocyte retrieval. Methods: A retrospective analysis was conducted on 348 female patients who underwent in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) at the Reproductive and Genetic Hospital of the First Affiliated Hospital of Zhengzhou University between January and July 2023. Due to their high risk of OHSS, these patients canceled fresh embryo transfer and opted for total embryo freezing. Based on patients' preferences, those who received GnRH-ant and letrozole after oocyte retrieval were categorized as the intervention group (164 cases), while those who did not receive these medications were categorized as the control group (184 cases). The first luteal phase after oocyte retrieval, OHSS grading, ovarian volume, and estradiol (E 2 ) levels were evaluated in both groups. A multivariate logistic regression model was used to analyze factors related to moderate-to-severe OHSS among patients at high risk of OHSS who underwent total embryo freezing after oocyte retrieval. Results: The age of the intervention and control groups was (29.3±3.8) and (29.4±4.1) years, respectively ( P =0.821). The duration of the first luteal phase post-oocyte retrieval was shorter in the intervention group [(7.16±1.39) days] compared to that in the control group [(13.88±2.11) days] ( P <0.001). The incidences of mild, moderate, and severe OHSS in the intervention group were 75.0% (123 cases), 23.8% (39 cases), and 1.2% (2 cases), respectively, whereas in the control group they were 12.5% (23 cases), 60.9% (112 cases), and 26.6% (49 cases) ( P <0.001). E 2 levels on the 2nd and 6th days after oocyte retrieval [ M ( Q 1 , Q 3 )] in the intervention group were 1 520.0 (1 213.8, 1 884.8) and 108.5 (45.6, 218.0) ng/L, respectively, which were statistically significantly lower than those in the control group [1 666.0 (508.8, 1 702.0) ng/L] and [1 761.0 (826.0, 2 546.5) ng/L] ( P <0.001). The abdominal cavity effusion in the intervention group [ M ( Q 1 , Q 3 )] were 19.5 (0, 30) and 0 mm, statistically significantly less than those in the control group [46.0 (0, 61.0) mm] and [54.5 (0, 69.5) mm] ( P <0.001). On the 6th day after oocyte retrieval, the bilateral ovarian volumes in the intervention group were smaller than those in the control group ( P <0.001). Multivariate logistic regression analysis indicated that no combined treatment with letrozole and GnRH-ant was a risk factor of moderate to severe OHSS. The risk of developing moderate to severe OHSS in the control group was 35.312 times higher than that in the intervention group ( OR =35.312, 95% CI : 17.488-71.300). Conclusions: The administration of letrozole combined with GnRH-ant post-oocyte retrieval in patients at high risk of OHSS can prevent the occurrence of moderate-to-severe OHSS, shorten the first luteal phase, accelerate the reduction of serum E 2 levels, and promote the recovery of ovarian volume and absorption of abdominal fluid.

Objective: To analyze the efficacy and safety of the sodium channel blockers (SCB) antiseizure medication in the treatment of focal epilepsy in infants under 6 months of age. Methods: This was a case series study. Infants with focal epilepsy with onset within 6 months of age and treated with SCB attending the Department of Neurology of Beijing Children's Hospital from June 2016 to April 2022 were collected. The clinical data, auxiliary examinations, SCB application, efficacy, adverse reactions, and prognosis were analyzed retrospectively. Patients were grouped according to type of seizure and epileptic syndrome, age of onset and etiology. Chi square test and Fisher exact test were used to analyze the differences between groups statistically. Results: A total of 118 infants were enrolled, 65 males and 53 females, with an age of epilepsy onset of 56 (4, 114) days. Developmental and epileptic encephalopathy was diagnosed in 60 infants, 39 had self-limited neonatal and (or) infantile epilepsy, and 19 had non-syndromic focal epilepsy. Application of SCB: 106 used oxcarbazepine, 2 used lacosamide, 9 switched from oxcarbazepine to lacosamide or a combination of 2 SCB, and 1 used oxcarbazepine, lacosamide, and lamotrigine successively; oxcarbazepine was the first choice in 46 cases. The age at which SCB was applied was 103 (53, 144) days. The children were followed up for 6 months to 6 years. SCB was effective in 89 cases (75.4%), including 70 cases (59.3%) who achieved seizure freedom. The seizure-free rate was higher in the focal epilepsy only group than in the group with other seizure types (64.4% (65/101) vs. 4/17, χ ²=9.99, P <0.05). The responder and seizure-free rates were all higher in the group with the onset age of >3-6 months than the group >1-3 months (84.4% (38/45) vs. 62.5% (20/32), 73.3% (33/45) vs. 46.9% (15/32), χ ²=4.85 and 5.58, both P <0.05). With the exception of variants in the PRRT2 gene, those with variants in sodium or potassium channels had higher responder and seizure-free rates than those with variants in other genes(86.2% (25/29) vs. 45.5% (10/22), 62.1% (18/29) vs. 22.7% (5/22), χ ²=9.65 and 7.82,both P <0.05). The most common adverse event was transient hyponatremia, which happened in 66 cases (55.9%). There were 9 cases of rash, which subsided in 6 cases after discontinuing oxcarbazepine and switching to lacosamide, and 7 cases of electrocardiogram abnormalities, which improved after withdrawing oxcarbazepine and changing to lacosamide in 1 case. Conclusion: SCB are effective and tolerable in the treatment of focal epilepsy in infants under 6 months of age, with better efficacy in patients with genetic variants of the sodium or potassium channel, focal seizures only, and seizure onset >3-6 months of age.

Objective: To investigate the clinical features and short-term prognosis of patients with SARS-CoV-2 infection associated acute encephalopathy (AE). Methods: Retrospective cohort study. The clinical data, radiological features and short-term follow-up of 22 cases diagnosed with SARS-CoV-2 infection associated AE in the Department of Neurology, Beijing Children's Hospital from December 2022 to January 2023 were retrospectively analyzed. The patients were divided into cytokine storm group, excitotoxic brain damage group and unclassified encephalopathy group according to the the clinicopathological features and the imaging features. The clinical characteristics of each group were analyzed descriptively. Patients were divided into good prognosis group (≤2 scores) and poor prognosis group (>2 scores) based on the modified Rankin scale (mRS) score of the last follow-up. Fisher exact test or Mann-Whitney U test was used to compare the two groups. Results: A total of 22 cases (12 females, 10 males) were included. The age of onset was 3.3 (1.7, 8.6) years. There were 11 cases (50%) with abnormal medical history, and 4 cases with abnormal family history. All the enrolled patients had fever as the initial clinical symptom, and 21 cases (95%) developed neurological symptoms within 24 hours after fever. The onset of neurological symptoms included convulsions (17 cases) and disturbance of consciousness (5 cases). There were 22 cases of encephalopathy, 20 cases of convulsions, 14 cases of speech disorders, 8 cases of involuntary movements and 3 cases of ataxia during the course of the disease. Clinical classification included 3 cases in the cytokine storm group, all with acute necrotizing encephalopathy (ANE); 9 cases in the excitotoxicity group, 8 cases with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and 1 case with hemiconvulsion-hemiplegia syndrome; and 10 cases of unclassified encephalopathy. Laboratory studies revealed elevated glutathione transaminase in 9 cases, elevated glutamic alanine transaminase in 4 cases, elevated blood glucose in 3 cases, and elevated D-dimer in 3 cases. Serum ferritin was elevated in 3 of 5 cases, serum and cerebrospinal fluid (CSF) neurofilament light chain protein was elevated in 5 of 9 cases, serum cytokines were elevated in 7 of 18 cases, and CSF cytokines were elevated in 7 of 8 cases. Cranial imaging abnormalities were noted in 18 cases, including bilateral symmetric lesions in 3 ANE cases and "bright tree appearance" in 8 AESD cases. All 22 cases received symptomatic treatment and immunotherapy (intravenous immunoglobulin or glucocorticosteroids), and 1 ANE patient received tocilizumab. The follow-up time was 50 (43, 53) d, and 10 patients had a good prognosis and 12 patients had a poor prognosis. No statistically significant differences were found between the two groups in terms of epidemiology, clinical manifestations, biochemical indices, and duration of illness to initiate immunotherapy (all P >0.05). Conclusions: SARS-CoV-2 infection is also a major cause of AE. AESD and ANE are the common AE syndromes. Therefore, it is crucial to identify AE patients with fever, convulsions, and impaired consciousness, and apply aggressive therapy as early as possible.

Objective: To analyze the clinical features of children with uridine responsive developmental epileptic encephalopathy 50 (DEE50) caused by CAD gene variants. Methods: A retrospective study was conducted on 6 patients diagnosed with uridine-responsive DEE50 caused by CAD gene variants at Beijing Children's Hospital and Peking University First Hospital from 2018 to 2022. The epileptic seizures, anemia, peripheral blood smear, cranial magnetic resonance imaging (MRI), visual evoked potential (VEP), genotype features and the therapeutic effect of uridine were descriptively analyzed. Results: A total of 6 patients, including 3 boys and 3 girls, aged 3.5(3.2,5.8) years, were enrolled in this study. All patients presented with refractory epilepsy, anemia with anisopoikilocytosis and global developmental delay with regression. The age of epilepsy onset was 8.5 (7.5, 11.0) months, and focal seizures were the most common seizure type (6 cases). Anemia ranged from mild to severe. Four patients had peripheral blood smears prior to uridine administration, showing erythrocytes of variable size and abnormal morphology, and normalized at 6 (2, 8) months after uridine supplementation. Two patients suffered from strabismus, 3 patients had VEP examinations, indicating of suspicious optic nerve involvement, and normal fundus examinations. VEP was re-examined at 1 and 3 months after uridine supplementation, suggesting significant improvement or normalization. Cranial MRI were performed at 5 patients, demonstrating cerebral and cerebellar atrophy. They had cranial MRI re-examined after uridine treatment with a duration of 1.1 (1.0, 1.8) years, indicating significant improvement in brain atrophy. All patients received uridine orally at a dose of 100 mg/(kg·d), the age at initiation of uridine treatment was 1.0 (0.8, 2.5) years, and the duration of treatment was 2.4 (2.2, 3.0) years. Immediate cession of seizures was observed within days to a week after uridine supplementation. Four patients received uridine monotherapy and were seizure free for 7 months, 2.4 years, 2.4 years and 3.0 years respectively. One patient achieved seizure free for 3.0 years after uridine supplementation and had discontinued uridine for 1.5 years. Two patients were supplemented with uridine combined with 1 to 2 anti-seizure medications and had a reduced seizure frequency of 1 to 3 times per year, and they had achieved seizure free for 8 months and 1.4 years respectively. Conclusions: The clinical manifestations of DEE50 caused by CAD gene variants present a triad of refractory epilepsy, anemia with anisopoikilocytosis, and psychomotor retardation with regression, accompanied by suspected optic nerve involvement, all of which respond to uridine treatment. Prompt diagnosis and immediate uridine supplementation could lead to significant clinical improvement.

Objective: To assess the feasibility of endovascular thrombectomy (EVT) for the treatment of acute ischemic stroke (AIS) in children. Methods: Clinical data and follow-up information of 4 AIS children who received EVT in the Department of Intervention & Hemangioma at the Children's Hospital of the Capital Institute of Pediatrics from December 2020 to June 2021 were collected retrospectively. The vascular recanalization after EVT was assessed by the modified thrombolysis in cerebral infarction (mTICI) score. Efficacy outcomes were assessed with initial and postprocedural Pediatric National Institutes of Health Stroke Scale (PedNIHSS) score, and the modified Rankin scale (mRS) score at 3 and 6 months after treatment. Safety assessments included perioperative complications and intracranial hemorrhage post-treatment. Results: A total of 5 EVT treatment were performed on 4 children with AIS, of whom 3 were male. The age of onset was 4.6, 13.8, 7.8, 8.0, 8.9 years, respectively. The time from symptom onset to initiation of EVT was 19.0, 25.0, 22.0, 4.0, 16.5 hours, respectively and all patients achieved successful recanalization of the vessel after EVT (mTICI≥2b). The PedNIHSS score was 39, 14, 25, 39, 24 before treatment and decreased to 8, 1, 12, 39, 5 at discharge. All the procedures were performed with no perioperative complications. Only 1 patient with congenital heart disease had a recurrent AIS with malignant brain oedema and brain hernia. Although the occluded vessels were successfully recanalized,the symptoms were not improved and this patient died after treatment abandonment. The other 3 patients achieved good recovery at 6 months postoperatively. The mRS score of 3 patients was 3, 1, 2 at 3 months after EVT and decreased to 2, 1, 1 at 6 months. Conclusion: EVT treatment may be feasible and safe for pediatric AIS due to large vessel occlusion even when the treatment was initiated 6 hours post stroke, but children with heart disease may have a dismal prognosis.

Objective: To investigate the clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion. Methods: The patients ( n =10) with 16p11.2 microdeletion found in children with epilepsy treated in Beijing Children's Hospital Affiliated to Capital Medical University from January 2018 to January 2021 were collected. The clinical manifestations, gene variations and prognosis were analyzed retrospectively. Results: A total of 10 children's data were collected, including 5 male and 5 female. The onset age of epilepsy was 4.5 (4.1,5.0) months. Regarding the seizure types, 7 cases had focal seizures with secondary generalization, 2 cases had generalized seizures, and 1 case had tonic seizures and spasms. Nine cases had cluster seizure attacks and 3 cases had status epilepticus. Seven cases had focal or multifocal epileptiform discharges in interictal electroencephalogram (EEG), 3 cases had borderline or normal EEG. Brain magnetic resonance imaging showed polymicrogyria in 1 case, paraventricular leukomalacia in 1 case, delayed myelination of white matter in 3 cases, and no obvious abnormalities in the other 5 cases. The patients were followed up for 0.5-3.5 years, with 1-3 kinds of antiepileptic drugs taken orally. The case with polymicrogyria still had seizures, however the other 9 cases had seizures controlled. The age of the last seizure attack was 8 (6, 12) months. There were 6 cases with mental and motor developmental delay before epilepsy onset. During the follow-up, 7 cases were retarded to varying degrees, while 3 cases had normal development. Regarding the genetic detection methods, 7 cases underwent whole exome sequencing, 2 cases underwent whole genome copy number variation detection, and 1 case underwent whole genome sequencing. The length of the 16p11.2 deletion in 10 cases ranged from 525 to 951 kb, and all contained the PRRT2 gene intact. Six cases were de novo variants, 1 case was inherited from the mother who had a history of convulsions in early childhood, and the source of variant was not verified in 3 cases, none of whose parents had relevant phenotype. Conclusions: The epilepsy associated with 16p11.2 microdeletion is mainly induced by the heterozygous deletion of PRRT2 gene in this region, however the phenotype is usually severe, and often combined with developmental and epileptic encephalopathy. Detection of copy number variation should be emphasized in children whose etiology is considered genetic but second-generation sequencing result is negative.

Objective: To investigate the clinical characteristics, treatment and prognosis of congenital pulmonary airway malformation (CPAM) complicated with chronic pulmonary aspergillosis (CPA) in children. Methods: The clinical manifestation, laboratory test, radiological feature, treatment and prognosis of 4 pediatric patients diagnosis of CPAM with CPA ascertained between March 2016 and April 2020 at the Department of No.2 Respiratory Medicine and Thoracic Surgery of Beijing Children's Hospital were retrospectively analyzed. Results: The 4 children included 2 males and 2 females, their age ranged from 9.9 to 13.6 years. Cough presented in 3 cases, hemoptysis in 2 cases, whereas in 1 case, pneumothorax was the first manifestation of the condition. Past history revealed multiple hospital admissions for pneumonia in 2 children and 1 with more than 2 episodes of wheezing. Aspergillus IgG was positive in 3 patients. Significantly elevated total IgE and fumigatus-specific IgE levels were noted in 2 children. CT demonstrated multiple cystic lesions, and fungal balls were seen in 2 children. They all underwent lobectomy and the lung tissue from the 4 children all demonstrated CPAM with Aspergillus infection. Aspergillus fumigatus was isolated from the abscess collected during operation in 1 patient. Postoperative, voriconazole was given in 3 children for 8 weeks, recurrence was observed in 2 children with characteristics of allergic bronchopulmonary aspergillosis. Voriconazole was given in one patient for 12 weeks with no recurrence. Conclusions: CPAM might be complicated with CPA,if there are hemoptysis, and fungal ball in chest CT, cautious preoperative examinations for microorganism are necessary. The necessity and duration of postoperative antifungal therapy need to be determined on individual basis.

Objective: To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding. Methods: The medical history, electroencephalogram, brain imaging, genetic examination and other clinical data of 340 patients who were diagnosed with epilepsy with onset under 6 months of age and were hospitalized in the Department of Neurology, Beijing Children's Hospital, Capital Medical University between January 2017 and December 2018 were retrospectively analyzed. Rank sum test was used to compare the ages of onset of different etiologic groups. Results: Of the 340 patients, 196 were males and 144 were females. The age of onset was 90.5 (48.0, 135.5) days. In the 250 (73.5%) underwent genetic test, 103 (41.2%) had pathogenic or likely pathogenic variants, involving 43 single gene variants and 2 chromosomal abnormalities. Seventy-nine patients (23.2%) had genetic etiology, 66 (19.4%) had structural etiology, 19 (5.6%) had metabolic etiology, 13 (3.8%) had multiple etiologies, and 163 (47.9%) had unknown etiology. In the 79 cases with genetic etiology, 30 single gene variants were detected, including 19 cases of PRRT2, 10 cases of KCNQ2, 7 cases of SCN1A, 6 cases of SCN2A, 6 cases of STXBP1, 5 cases of CDKL5, 2 cases of ARX, and 1 case of each of 23 gene variants. Two cases had chromosomal abnormalities which were 21-trisomy and 16p11.2 microdeletion syndrome respectively. Among the 66 cases with structural etiologies, 37 cases had acquired factors such as perinatal brain injury, 28 cases had congenital factors such as cortical malformation and 1 case was perinatal brain injury combined megalencephaly. The onset age of genetic etiology was 95 (26, 128) days, that of structural etiology was 90 (58, 30) days, and that of metabolic etiology was 57 (30, 90) days. The onset age of metabolic etiology was earlier than that of structural etiology ( U =436.500, P =0.044). Conclusions: Genetic etiology is the most common defined etiology of infants with early-onset epilepsy aged 0-6 months, and there are certain differences in the age of onset between different etiologies. Proper application of genetic test is helpful to identify the etiology and guide treatment.

Objective: To investigate the clinical features and prognosis of pediatric autoimmune encephalitis associated with anti-glutamic acid decarboxylase 65 (GAD65) antibody. Methods: Clinical data of 2 patients diagnosed as autoimmune encephalitis associated with anti-GAD65 antibody at Department of Neurology, Beijing Children's Hospital in 2019 were analyzed retrospectively. A literature search with "anti-GAD65 antibody""encephalitis""epilepsy" or "cerebellar ataxia" as key words was conducted at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to January 2020). The clinical features and prognosis of pediatric cases with complete clinical data were retrieved and summarized. Results: Two patients with positive anti-GAD65 antibody of serum and cerebrospinal fluid were both females. The onset age of case 1 was 57 months and her main clinical manifestations were fever and unconsciousness. The cranial magnetic resonance imaging (MRI) showed diffuse T2 weighted imaging (T2WI) abnormal signals, and the electroencephalogram (EEG) showed slow waves. The onset age of case 2 was 80 months and her main clinical manifestations of were recurrent focal seizures, memory loss, and headache. The MRI showed high T2WI signal in bilateral hippocampus, and the EEG showed abnormal discharge involving the temporal area. Both cases were treated with methylprednisolone and intravenous immunoglobulin, the short-term symptoms of them were both improved. They were followed up for 6 months and 1 year respectively, the case 1 recovered completely, and the case 2 still had focal seizures. Six English reports which included 6 cases were retrieved. Together with these 2 cases, a total of 8 cases were analyzed. The clinical symptoms included seizures (6 cases), memory loss (4 cases), loss of consciousness (3 cases), behavioral abnormalities (3 cases), cognitive impairment (2 cases), headache (2 cases), autonomic symptoms (1 case), ataxia (1 case), dysphagia (1 case), and aphasia (1 case). There were 5 cases with cranial MRI abnormalities in the acute phase or sub-acute phase, of whom 3 cases had the limbic system involvement, and 2 cases were mainly had extra limbic area involvement. Three cases had hippocampal atrophy or sclerosis during follow-up. All 8 patients were treated with immunotherapy. After immunotherapy, all patients had short-term improvement. Follow-up for 6 months to 6 years showed that 3 cases with extra limbic encephalitis improved to baseline levels, and 5 limbic encephalitis cases had poor outcomes, including 1 death and 4 cases still had focal epilepsy. Conclusions: Pediatric anti-GAD65 antibody associated autoimmune encephalitis is a rare but treatable disease, including limbic encephalitis and extra limbic encephalitis. The most common clinical manifestations are seizures and memory impairment. Early diagnosis and immunotherapy can improve the symptoms in a short time. But patients with limbic encephalitis often had refractory epilepsy in the chronic phase, and have a poor long-term outcome.

Objective: To summarize the clinical characteristics of high-risk neuroblastoma (HR-NB) in a single center, analyze the prognostic factors of HR-NB. Methods: The clinical data of children with HR-NB who were treated and followed up at the hematology-oncology center of Beijing Children's Hospital from February 1, 2007 to June 30, 2018 were analyzed retrospectively. The clinical features were summarized. Kaplan-Meier method was used for survival analysis and Cox regression was used to analyze the prognostic factors. The last follow-up time was June 30, 2019. Results: A total of 458 children with HR-NB were enrolled in this study, including 265 males (57.9%) and 193 females (42.1%), the age at diagnosis was 40.0 months (4.5-148.0 months), the follow-up time was 22.0 months (0.2-138.0 months) and the time of tumor progression or recurrence was 15 months (1-72 months). The 5-year event-free survival (EFS) rate was (31.2±2.6)% and the 5-year overall survival (OS) rate was (43.9±3.2)%. The 5-year EFS rate and 5-year OS rate in 142 hematopoietic stem cell transplantation (HSCT) patients with bone marrow metastases were better than that in 196 non-transplantation cases with bone marrow metastases ((26.5±4.5)% vs . (25.1±3.6)%, χ²=13.773, P= 0.001; (38.1±5.5)% vs . (35.7±4.7)%, χ²=9.235, P= 0.002); 128 transplantation patients with bone metastases had higher 5-year EFS rate and 5-year OS rate than 188 non-transplantation cases with bone metastases ((28.5±5.0)% vs . (26.7±3.8)%, χ²=10.222, P= 0.001; (37.1±6.0)% vs . (36.2±4.8)%, χ²=7.843, P= 0.005). The 5-year EFS rate was higher in 37 HSCT patients with MYCN amplification than in 49 non-transplantation cases with MYCN amplification ((26.8±8.0) % vs . (20.5±6.4) %, χ²=5.732, P= 0.017). No significant difference was found in 5-years OS rate between transplantation group with MYCN amplification and non-transplantation group with MYCN amplification ((31.4±8.6) % vs . (26.2±7.4) %, χ²=3.230, P= 0.072). Univariate survival analysis showed that lactate dehydrogenase (LDH)≥1 500 U/L was associated with poor prognosis of patients with MYCN amplification (χ²=6.960, P= 0.008). Multivariate Cox analysis showed bone marrow metastasis and LDH≥1 500 U/L were independent risk factors for poor prognosis of patients with non-MYCN amplification ( HR =2.427, 1.618;95 %CI ：1.427-4.126, 1.275-2.054, P< 0.05) for both comparisons. Conclusions: LDH≥1 500 U/L was the poor prognostic factor for patients with MYCN amplification. The bone marrow metastasis and LDH≥1 500 U/L were the poor prognostic factors for HR-NB patients with non-MYCN amplification. HSCT can improve the prognosis of patients with bone or bone marrow metastasis. It can also retard the time of progression or recurrence for patients with MYCN amplification.

Objective: To analyze the clinical characteristics of 801 inpatients with chronic wounds. Methods: The medical records of patients with chronic wounds who were admitted to the General Hospital of Southern Theater Command of PLA (hereinafter referred to as the author's unit) from January 2013 to December 2017, including gender, occupation, wound type, age, department distribution, recovery status, recovery time, hospitalization time, hospitalization cost, treatment method, clinical outcome, and medical expenses were retrospectively analyzed. Data were statistically analyzed with chi-square test, Fisher's exact probability test, and Kruskal-Wallis H test. Results: Of 245 037 inpatients admitted to the author's unit within 5 years, 801 (3.3‰) patients with chronic wounds met the inclusion criteria. The composition ratio of chronic wound patients during the 5 years was 2.4‰ (106/44 230)-3.9‰ (191/49 342). Among chronic wound patients, there were 527 males and 274 females, with manual labor, retired, and unemployed patients accounted for a large proportion. The main type of chronic wound was unhealed wound after surgery, accounting for 28.2% (226/801), followed by diabetic wound, accounting for 22.7% (182/801) and traumatic wound, accounting for 16.5% (132/801). There was statistically significant difference in gender distribution of patients with different types of chronic wounds ( χ (2)=28.236, P <0.05). The main types of wound in male patients were unhealed wound after surgery, diabetic wound, and traumatic wound, while the main types of wound in female patients were diabetic wound and unhealed wound after surgery. There was statistically significant difference in the age group distribution of patients with different types of chronic wounds ( P <0.01). Patients aged 41-60 years had a high incidence of unhealed wound after surgery and traumatic wound, and patients aged 61-80 years had a high incidence of diabetic wound. Patients with chronic wounds in department of orthopedics had the highest recovery rate, followed by comprehensive department. There were statistically significant differences in hospitalization time and hospitalization cost of patients with chronic wounds admitted to different departments ( χ (2)=47.390, 107.390, P <0.05). There were no statistically significant differences in cure status and cure time of patients with chronic wounds admitted to different departments ( χ (2)=7.163, 15.510, P >0.05). Patients treated with surgery in combination with drug had higher recovery rates than patients given other treatment methods. There was no statistically significant difference in the cure rate of patients with different treatment methods ( χ (2)=7.600, P >0.05). There were statistically significant differences in cure time, hospitalization cost, and hospitalization time of patients given different treatment methods ( χ (2)=38.067, 130.520, 130.890, P <0.05). There were no statistically significant differences in hospitalization cost and hospitalization time of patients with different clinical outcomes ( χ (2)=2.070, 5.790, P >0.05). The total medical cost of 801 patients with chronic wounds was about 47 million yuan, of which the total hospitalization cost per capita was 50, 725 yuan, with a minimum of 1 164 yuan and a maximum of about 1.16 million yuan per capita, and with drug and materials costs accounted for high proportions of the total cost. Conclusions: Patients with chronic wounds in the author's unit are mainly physical labor and middle-aged and elderly people, with more male patients than female patients. The main type of wound is unhealed wound after surgery, which brings serious economic burden to the patients and the society. Therefore, it is necessary to strengthen the public knowledge about chronic wounds and improve the awareness of prevention and treatment.

Objective: To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. Methods: The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. The clinical features and gene test results were analyzed retrospectively. Results: Data of 9 patients (4 boys and 5 girls) diagnosed as myoclonus dystonia syndrome caused by SGCE variants were collected. The onset age ranged from 1 year to 3 years and 2 months. The first symptom was myoclonus in 4 cases, while dystonia in the remaining 5 cases. In the course of the disease, 9 cases had myoclonus and 8 had dystonia. Myoclonic jerks were characterized by involuntary jerks in both upper limbs in 8 patients. Six patients had involuntary jerks of lower limbs, resulting in gait instability or even falling. The myoclonus was exacerbated during the fine motor activities, emotional stress or fatigue. Dystonia was characterized by abnormal gait, including 5 cases with right leg dystonia, and 3 cases with the left leg dystonia. Three probands had a positive family history. Intellectual development was normal in all cases. There was no obvious abnormality in video-electroencephalogram (EEG) during both ictal and interictal periods. Electromyography (EMG) and brain magnetic resonance imaging (MRI) of 9 patients were normal. Nine patients carried SGCE gene variants, including 3 frame shift variants, 2 nonsense variants, 2 missense variants, 1 fragment deletion variant and 1 splice site variant. Seven variants were inherited paternally, and 2 variants were de novo. Madopar was used in 8 patients, and nitrazepam in 4 patients, leading to the decrease in the myoclonus jerks and improvement of gait in 6 and 2 patients, respectively. Conclusions: SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom. Non-epileptic myoclonus is the prominent symptom, with upper limb mainly involved. Most of the patients have the accompanying symptoms of dystonia, and some of them may have spontaneous symptom relief. SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group ( t= 1.662, 0.860; P= 0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P= 0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children's Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions: GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.

Objective: To characterize fever-induced paroxysmal weakness and encephalopathy (FIPWE) caused by ATP1A3 gene pathogenic variant. Methods: Phenotypic and genotypic characteristics of 4 FIPWE patients (3 boys and 1 girl), who were ascertained from October 2016 to March 2018 in Beijing Children's Hospital due to ATP1A3 heterozygous variants, were retrospectively analyzed. The whole exsome sequencing was used for genetic testing. Results: The onset ages of 4 patients were 2 years and 9 months, 2 years and 4 months, 8 months, 2 years and 5 months respectively. The episode ranged from 1 to 3 times, and at 3 months to 2 years and 10 months intervals. All 4 patients had symptoms of limb weakness and encephalopathy, accompanied with mild to severe ataxia or athetosis. The tendon reflex was absent in all patients, and the Babinski's sign was positive. Three patients had dysphagia and 3 patients had slurred speech. Three patients had abnormal eye movements, including strabismus and opsoclonus. None of the 4 patients exhibited visual impairment, auditory impairment or talipes cavus. The duration of acute phase ranged from 1 week to 3 months. In 3 relapsing patients, symptoms became progressively worse, with relapses occurring frequently and recovery being more difficult, and various sequelae were found after the last relapse. All patients carried heterozygous variant in ATP1A3 gene. The missense variants result in the substitution of an arginine residue at position 756. Three variants were identified, including C. 2267G > T (p. R756L) (1 case), C. 2266C > T (p. R756C) (2 cases), and C. 2267G > A (p. R756H) (1 case). Three were de novo and one inherited from his father, but the grandparents did not carry the variant. All variants were reported as pathogenic. Conclusions: FIPWE is one of new clinical phenotypes of ATP1A3 spectrum disease and most cases are sporadic. The missense variants result in the substitution of an arginine residue at position 756. This report provided insights into the phenotype-genotype association in patients with FIPWE caused by pathogenic variants of ATP1A3.

Objective: To summarize the detailed clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation, in order to improve the understanding of the disease. Methods: The clinical data and genetic results of 40 benign infantile epilepsy patients with PRRT2 mutation who were diagnosed and treated in the neurology department of National Center for Children's Health (Beijing) , Beijing Children's Hospital affiliated to Capital Medical University from January 2002 to October 2017 and their affected family members were analyzed. Results: Forty benign infantile epilepsy patients were recruited for this study, with 18 males and 22 females. The age at onset ranged from 3 to 15 months (median: 4.6 months). All patients presented focal seizures with or without secondary generalization. Decreased responsiveness, eyes stare and cyanosis were commonly observed. A cluster of seizures was observed in 20 patients at the beginning of the disease, but interictal clinical conditions were normal. Interictal electroencephalograms were normal in 32 cases but 8 cases showed small amount scattered spike and spike wave. Two patients developed paroxysmal kinesigenic dyskinesia in 30 months and 12 years respectively after the cessation of the seizure. Thirty-four affected pedigree members had a history of paroxysmal episodes in 24 families, including 19 individuals of infantile afebrile convulsion, 6 individuals of paroxysmal kinesigenic dyskinesia during childhood or adulthood, 8 individuals of infantile convulsion and paroxysmal kinesigenic dyskinesia during adulthood, one individual of infantile febrile convulsion. The follow-up time ranged from 6 months to 15 years. Thirty-six patients were treated with antiepileptic drugs and their seizures were easy to control. Four patients stayed seizure free without medication (all <2 years). Seizure stopped in 24 patients within 1 year of age, in 10 patients stopped during 12-24 months and in 2 patients stopped during 24-36 months. All cases had PRRT2 mutations, 7 cases of a complete PRRT2 deletion, 33 cases of PRRT2 heterozygous mutations consisted of 28 frameshift mutations and 5 missense mutations. Of these heterozygous mutations, 30 cases were hereditary mutations while 3 were de novo mutations. Nine family members harbored the same PRRT2 mutations without any symptom. Conclusions: Benign infantile epilepsy with PRRT2 mutation is characterized by early onset of seizure mostly before 6 months, focal seizures with or without secondary generalization, a high incidence of a cluster of seizures, rapid resolution of seizure by antiepileptic drugs and cessation of seizure mostly before 2 years of age. Partial patients may develop paroxysmal kinesigenic dyskinesia increasing with age. Most PRRT2 gene mutations are heterozygous mutations, and a few are the overall deletion of PRRT2 gene.

Objective: To investigate the thickness of cranial bone in different parts of children skull during stereotactic electroencephalogram (SEEG) and its effect on electrode fixation. Methods: From October 2016 to March 2017, 13 children with SEEG by robot of surgery assistant (ROSA) were selected. The basic case information and electrode design scheme were collected. The skull thickness of each electrode channel was measured on post-operation CT, and the loosening of the fixed screws were recorded. The thickness of skull in frontal bone, temporal bone, parietal bone and occipital bone was statistically processed by SPSS statistical software. Results: There were total 113 electrodes in 13 children with epilepsy. There were 45 electrodes at frontal bone, of which the thickness was (5.7±2.8)mm. There were 34 electrodes at temporal bone, of which the thickness was (3.5±1.3)mm.There were 16 electrodes at parietal bone, of which the thickness was (6.0±2.5)mm.There were 18 electrodes at occipital bone, of which the thickness was (6.9±0.5)mm. Statistics showed that there was significant difference between differnt bone ( F =15.340, P <0.01). There were 4 electrodes loosening, 1 at frontal bone and 3 at temporal bone, when the screws were removed. There was no adverse event related to the implantation of electrodes. Conclusions: The children's skull thickness is thinner than adults. The screw loosening is exist in some cases, but it has no effect on SEEG recording. No SEEG related adverse events are found in this group. Therefore, ROSA guided SEEG is safe and reliable in children with epilepsy.

Objective: To evaluate the clinical outcome of fetus diagnosed as mild and moderate isolated ventriculomegaly (IVM) and its correlation with imaging follow-up. Methods: Totally, 161 cases of single pregnancy whose fetus was diagnosed as mild or moderate IVM by ultrasound were administrated. Data of prenatal ultrasound examination, pregnancy outcomes, and the postnatal MRI results were collected. New borns' growth and development, language expression, movement coordination, auditory and visual function were followed up to evaluate the neurodevelopment. Results: (1) Before birth: 80.1% (129/161) of IVM disappeared before the delivery, 16.1% (26/161) remained stable, and 3.7% (6/161) continued to deteriorate. (2) Postnatal MRI: 8 cases (9.6%, 8/83) were diagnosed IVM, of which 3 cases were found additional abnormalities (1 case was the corpus callosum dysplasia and 2 cases were leukodystrophy) . The additional abnormal detection rate was 3/8. (3) Postnatal assessments: There were 7 cases (8.9%, 7/79) neunatal behavioral neurological assessment (NBNA) , 6 cases (7.6%, 6/79) Bayley scales of infant development (BSID) -psychomotor developmental index (PDI) and 3 cases (3.8%, 3/79) BSID-mental development index (MDI) whose scores were low. There was no significant difference of the NBNA and BSID scores between mild and moderate IVM (NBNA: χ(2)=2.042, P= 0.210; BSID-PDI: χ(2)=-1.359, P= 0.174; BSID-MDI: χ(2)=-1.205, P= 0.228) . Follow-up of 9 cases (11.4%, 9/79) with low BSID score, 6 of them were found to be stable in the medial ventricle of the uterus, and the size of the lateral ventricle was normal after birth by ultrasound and MRI. Conclusions: The majority of IVM fetuses have good prognosis, but there is also a risk of neurodevelopmental dysplasia. The postnatal follow-up should be paid attention to, and MRI should be performed as the postnatal imaging evaluation.

Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. Results: The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively. The two patients were admitted to the PICU due to dyspnea, cyanotic episodes that required intubation. The patients had repeated apnea and became ventilator dependent. Case 1 died due to refusal of any treatment. Case 2 had a tracheotomy, and gradually weaned from ventilator after using pyridostigmine. The hospitalization of case 2 lasted 162 days. Case 2 was followed up to the age of 3 years and 4 months, and was extubated and was maintained on oral neostigmine but still had fluctuating ptosis and minor physical and mental retardation. Both cases were negative for anti-AChR, anti-acetylcholinesterase, anti-MuSK antibodies. Neostigmine test was negative in case 1 and suspiciously positive in case 2. Low-frequency repetitive nerve stimulation testing of case 2 was negative. Cranial MRI scans of both cases showed brain atrophy-like change. Genetic testing showed compound heterozygous deletions (exon 4, 5, 6) and pathogenic variant c.914T>C (p.I305T) in CHAT in case 1, compound heterozygous variants c.1007T>C (p.I336T) and c.64C>T (p.Q22X) in CHAT in case 2. To our knowledge, compound heterozygous deletions (exon 4, 5, 6) and p.Q22X were novel, previously unreported variants. Conclusion: CMS-EA usually presents at birth or in the neonatal period with hypotonia, ptosis, dysphagia due to severe bulbar weakness, and respiratory insufficiency with cyanosis and apnea. Early treatment with pyridostigmine is helpful to the improvement of clinical symptoms and prognosis.

Objective: The aim of this study is to explore the effects of autophagy on the metastasis of the Squamous Cell Carcinoma of Head and Neck (SCCHN) via epithelial to mesenchymal transition (EMT) induced by TGF-β1. Method: Establish the EMT model induced by TGF-β1 in the SCCHN in time/concentration, and the expression of autophagy related protein microtubule associated protein 1 light chain3 (LC3) detected by western blot; Autophagy inhibitor chloroquine (CQ), depressing autophagy, the expression of E-cadherin, cytokeratin, Vimentin and LC3 were examined by Western blot. Wound healing and Transwell invasion assay indicate the effects to metastasis for SCCHN. Result: Autophagy was activated within TGF-β1 induced EMT model in the SCCHN in time/concentration dependently. After autophagy was suppressed, the expression of E-cadherin and cytokeratin increased while vimentin and the capacity of metastasis was reduced compared with control group. Conclusion: TGF-β1 induce EMT and Autophagy in the SCCHN. Autophagy could enhances metastasis in the SCCHN via EMT induced by TGF-β1., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized. Result: There were three females and one male, two of which were compatriots. The age of onset ranged from 6 months to 15 months. All four children's first symptoms were motor development regression, and the developmental milestones were almost normal before the onset. Of the 4 patients, 3 had cognitive impairment, 1 had seizures, 4 had dystonia and pyramidal impairment, 2 had emaciation, and 1 had nystagmus. The lactate concentrations of 4 patients were normal in blood. One patient had lactaciduria in the urinary organic acid analysis. Cranial magnetic resonance imaging (MRI) of all patients showed leukoencephalopathy, involved in the corpus callosum, and three patients accompanied by cystic lesions. Follow up for 2-13 years showed that the physical and language development were improved. Genetic analysis revealed that mutations in NDUFS1 were found in three patients and NDUFV1 mutation was found in one patient. All six mutations (p.Arg377Cys and p. Arg377His in NDUFV1; p. Arg482Glyfs(*)5, p.Thr368Pro, p.Tyr454X and p. Asp565Gly in NDUFS1) are novel. Five English case reports including 10 PCL patients were collected. Together with this group of 4 cases, a total of 14 cases were involved. All 14 children patients had motor development regression, 11 cases had cognitive impairment and dystonia, 6 cases had pyramidal impairment, 5 cases had irritability, 4 cases had epilepsy and nystagmus, 3 cases had strabismus and swallowing difficulty. Cranial MRI showed patchy leukoencephalopathy with cavities, involved in the corpus callosum. Follow up for 19 months-15 years that the neurology development were improved slowly in all patients. Conclusion: NDUFS1 and NDUFV1 gene mutation screening should be performed firstly in patients with PCL clinical and imaging feature.

Objective: To explore the effects of varicocele on the expressions of inhibin B in rat testes and the relationship between expression of inhibin B and spermatogenesis dysfunction. Methods: Twenty specific-pathogen-free Sprague-Dawley (SD) male rats were randomly divided into two groups with random number table: 4-week control group (C4) and 4-week experimental group(V4). Experimental varicocele was created by partial ligation of left renal vein in the V4 group; vein isolation without ligation was performed in the C4 group.Spermatogenetic function in the two groups were assessed. The expression of inhibin B in the rat testis was analyzed by immunohistochemistry, the expressions of inhibin B, Fas and Fas ligand(FasL)mRNA measured by reverse transcription-polymerase chain reaction(RT-PCR), and the inhibin B protein expression by Western blot. Results: In comparison of spermatogenetic function in left rat testes, the Johnsen scores in the V4 group were significantly lower than those in the C4 group (9.79±0.05 vs 9.97±0.02, P =0.023), the seminiferous epithelium in the V4 group was significantly thinner than that in the C4 group [(48.35±0.99)μm vs (57.58±1.98)μm, P =0.000], and the number of sperms in the left epididymis was significantly lower than in the right one in the V4 group [(933±161)×10 6 /(ml·g) vs(1 552±184)×10 6 /(ml·g), P =0.017]. Both Western blot and immunohistochemical assay showed that the expression of inhibin B in the rat testes was significantly lower in the V4 group than in the C4 group(0.407±0.053 vs 0.608±0.076, P =0.038; 0.161±0.004 vs 0.183±0.005, P =0.008). RT-PCR also detected reduced expression of inhibin B mRNA in the V4 group compared with the C4 group(0.522±0.050 vs 1.106±0.210, P =0.003. Compared to the C4 group, the expression of Fas mRNA in the V4 group was significantly lower, while the expression of FasL mRNA in the V4 group was significantly higher( P =0.019, 0.015). Conclusions: Varicocele can lead to decreased expressions of inhibin B in rat testes and cause spermatogenesis dysfunction. There may be a close correlation between down-regulation ofinhibin B expression and spermatogenesis dysfunction.Inhibin B may play a significant rolein the mechanisms underlying male infertility due to varicocele.

Objective: To study the clinical and electroencephalographic (EEG) characteristics of anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDAR encephalitis) in children., Method: Retrospective analysis was performed on the clinical and EEG data of 105 patients with anti-NMDAR encephalitis treated in Beijing Children's Hospital (August 2011-March 2015). Of the 105 patients, 38 were male and 67 were female.The age of onset was from 6 months and 26 days to 15 years and 8 months (average (8±4)years). The time for confirmed diagnosis was from 4 days to 850 days (median 24.5 days). According to the modified Rankin scales, the patient's clinical conditions were assessed and underwent continuous EEG (cEEG) monitoring.The data were reviewed and analyzed., Result: Based on the severity of the disease, the 105 patients were divided into three groups: mild group (12 cases), moderate group (65 cases), and severe group (28 cases). There were 91 cases(86.7%)with abnormal EEG patterns, including 28 cases (26.7%) with slow background activity in EEG, 25 cases (23.8%) with generalized or diffuse slow waves, 33 cases (31.4%) had focal slow waves, 41 cases (39.0%) had epileptic waves; 10 cases (9.5%) showed unilateral or diffuse alpha-theta band rhythms in nonrapid eye movement (NREM) sleep, 7 cases (6.7%) showed extreme delta brush waves (EDB). Accordingly, the number of patients with abnormal EEG in mild, moderate and severe groups was 5, 58 (89.2%) and 28(100.0%). Seven patients with EDB phenomenon were all in the severe group, and 10 patients with abnormal alpha-theta band rhythms were in the moderate group., Conclusion: In children with anti-NMDAR encephalitis, the EEG patterns are in line with the changes of EEG in general encephalitis.The extent of EEG abnormalities correlates with the clinical severity of the disease. Extreme delta brush and alpha-theta band rhythms may be suggestive of diagnosis and clinical assessment of the disease.

Objective: To explore liposome-mediated transfection of human adipose-derived stem cells (hASCs) with vascular endothelial growth factor(VEGF) gene and to investigate the expression of VEGF after transfection. Method: Lipoaspirate was digested using collagenase.Cell pellet was harvested and subcultured to passage 4.Phenotype was detected with flow cytometry and multilineage differentiation was induced for the identification of hASCs.hASCs was transfected with pIRES2-EGFP-VEGF plasmid using DOTAP liposome.The intracellular expression of VEGF was detected by immunofluorescent staining and the VEGF concentration in supernatant was analyzed by ELISA. Result: 1 ml lipoaspirate yielded(4.38±0.21)×10⁵ cells.hASCs on passage 4 showed high expression of CD90(81.49%) and low expression of CD19(6.37%),CD31(14.91%),CD34(17.56%) and CD45(15.39%).GFP and VEGF were observed in transfected hASCs.The transfection efficiency was(43.69±18.53)%.Untransfected hASCs did not express GFP but low level of VEGF.The optical density of VEGF intransfected hASCs is 2.13 fold of untransfected hASCs.The VEGF concentration in supernatant of transfected hASCs significantly increased over time and exhibit statistic differences compared with untransfected hASCs( P <0.05). Conclusion: hASCs were successfully transfected with pIRES2-EGFP-VEGF plasmid using DOTAP liposome.The post-transfection expression and secretion of VEGF remarkably increased., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objective: To illustrate the microscopic characters of cells in mesocap of some of medicinal plants in Citrus of Rutaceae., Method: Microscopic observation and photograph were carried out., Result: It has been found that many of pavenchymatous cells are branches. It is spongy tissue that has huge room between cells. The thickening of cell wall is not obvious. The uneven thickness of walls of cells in mesocarp which is reported in the old documents are not found.

Aim: To investigate the influence of melatonin (MT) on growth of HeLa cells in vitro., Methods: The antiproliferation activities of MT were evaluated on HeLa cells by means of trypan blue dye exclusion and MTT vital staining. The morphological changes of MT on HeLa cells were observed under transmission electron microscope. Cell division cycle influenced by MT was assessed by a flow cytometer., Results: MT produced a certain inhibition on HeLa cells at the concentration of 2 mmol.L-1 and prolonged the time of double amount (TD). The fraction of cells inhibited was 61.0%. The IC50 of HeLa cells exposed to MT for 96 h was 2.039 mmol.L-1. The flow cytometric analyses showed that exposure to MT for 72 h reduced the number of HeLa cells in phase S. Under electronic microscope, the HeLa cells exposed to MT for 72 h displayed morphological changes of necrosis, apoptosis, more heterochromosome and less somatic chromosome., Conclusion: MT showed certain influence on HeLa cells. Its mechanism may probably be attributable to reduction of the number of cells in phase S.

Objective: Using HPLC-ED or RIA, we determined simultaneously 15 indexes in 27 patients with the liver-blood deficiency syndrome (LDBD). By means of multivarivate hierarchical cluster analysis and selections of typical variate, the results showed that 15 indexes were classified into 5 groups, and the typical variates of each groups were NE, T3, TXB2, ALD and cGMP. It suggests that LBDS has some pathopysiological characteristics such as decreased functions of sympathetic nerve activation, lower T3 syndrome, imbalance of the active substance regulating cardiovascular function and metabolism of salt and water, and abnormalities second signal substance in cellular membrane.

The purposes of this study were to examine the relationships of fathers' attitudes regarding breast feeding, father-infant attachment, marital adjustment, and partner's feeding method, and explore the predictors of fathers' attitudes regarding breast-feeding and partner's feeding method. A descriptive correlational method of investigation was implemented. A total of 210 fathers were recruited to participate in this study from the Kaohsiung City area. The results of this study were: (1) Fathers' attitudes regarding breast feeding were positive. (2) Fathers of breast-fed infants showed significantly more positive attitudes to breast feeding and significantly better marital adjustment. (3) Father's attitudes regarding breast-feeding, father-infant attachment, were positively or related with marital adjustment. (4) The best subsets to predict fathers' attitudes regarding breast-feeding included partner's feeding method, socioeconomic status, marital adjustment, and whether they had participated in deciding the feeding method; together, these subsets accounted for 20% of the total variance. (5) The best subsets to predict partner's feeding method were parity and father's attitudes regarding breast-feeding. This study reveals the importance of evaluating fathers' attitudes regarding breast-feeding and marital adjustment in terms of enhancing family-centered nursing and breast-feeding compliance.

The purpose of this study was to explore the dimension of maternal concerns during postpartum, and the effects of parity, time and social support on maternal concerns. Ninety-four women were recruited at one to five days after giving birth, and followed up at one month postpartum. Three instruments were used for data collection: the demographic questionnaire, the Maternal Concerns Questionnaire and the Interpersonal Support Evaluation List. There were four dimensions of postpartum maternal concerns: "concerns of life and social contact", "concerns of maternal role", "physiological concerns" and "psychological concerns". The results shown that the most intensive concerns of postpartum women were about maternal role. Primiparas had more concerns about maternal role than multiparas. Physiological concerns at one-month postpartum were decreased markedly compared with the early postpartum period. Psychological concerns were increased from the early postpartum period to one-month postpartum, and in primiparas they were increased more significantly. There were no significant correlations between social support and maternal concerns. It is suggested that postpartum health education should provide more information and technical practice focusing on maternal role. Obstetric nurses and community health nurses should enhance postnatal follow-up.

Fifteen-month-old Sprague-Dawley rats were given with some kinds of hot property of herb to produce model of Deficiency of yin brings about the interior heat-syndrome. The weight, water drinking volume, and body temperature of model rats were observed at the process of producing model and the treatment of di-zhen granules. Hypothalamic NE, DA and plasma NE, E concentration were determined by high-performance liquid chromatography, and serum E2, FSH, LH levels were determined by radioimmunoassay. The results were that after having been given the hot property of herbs for 2 weeks, the model rats increased water drinking volume and body temperature, which is similar to the appearance of patients with Deficiency of yin brings about the interior heat syndrome, and after having been treated with di-zhen granules, the water drinking volume and temperature of model rats decreased significantly (P < 0.01). The hypothalamic NE, DA, plasma NE, E, and the serum FSH, LH of the group treated with di-zhen granules were significantly lower than that of the model group and the normal group(P < 0.01). The results show that our model mentioned above possesses some characteristic features of the human climacteric syndrome which exhibits Deficiency of yin brings about the interior heat-syndrome. Di-zhen granules may regulate the function of GnRH neurons and other neurotic nucleus in hypothalamus, and then rectify the endocrine disorders of climacteric.

Aim: In order to explore the mechanism of action of melatonin to induce analgesia, the present study was undertaken to observe the effects of melatonin on the release of beta-endorphin (beta-Ep), norepinephrine (NE) and 5-hydroxytryptamine in rat brain., Methods: With the measurement of pain threshold, push-pull perfusion technique and radioimmunoassay were used to determine the immunoreactive beta-Ep content in the perfusate from the third ventricle of rat brain. The contents of 3-methoxy-4-hydroxyphenyl glycol (MHPG) and 5-hydroxyindole acetic acid in the microdialysate from rat brain were measured by techniques of in vivo microdialysis and high performance liquid chromatography with electrochemical detection., Results: The immunoreactive beta-Ep content in the perfusate from the third ventricle of rat brain was increased significantly (P < 0.05) following an intraperitoneal administration of 110 mg.kg-1 of melatonin, with the increase of pain threshold. The MHPG and 5-HIAA contents in the microdialysate from the periaqueductal gray (PAG) or the hypothalamus were not changed after the administration of melatonin., Conclusion: Melatonin may promote the release of beta-Ep in brain, which may be one of the mechanisms of the analgesic action of melatonin. The analgesic action of melatonin may not be related to the release of NE and 5-HT in the PAG or the hypothalamus.

The present study was undertaken to explore central mechanisms underlying the analgesic effect of melatonin. Push-pull perfusion technique and radioimmunoassay were used to observe the changes in the contents of beta-endorphin (beta-Ep) and leucine-enkephalin (L-EK) in the perfusate from the rat periaqueductal gray (PAG) after administration of melatonin. 30 50 min after an intraperitoneal injection of melatonin (110 mg/kg), the beta-Ep content in the perfusate was increased significantly, while the L-EK content was not changed. Pain threshold was measured using the warm water tail-flick test during the push-pull perfusion of the PAG. It was found that the rat pain threshold was increased significantly 40 min after the intraperitoneal injection of melatonin (110 mg/kg). The results suggest that melatonin may promote the release of beta-Ep in the PAG, which may be one of the mechanisms of the analgesic effect of melatonin.

Vancomycin-resistant enterococci (VRE) is a world-wide emerging pathogen. The first confirmed VRE isolate in Taiwan was detected in 1995. After that, more and more isolates of VRE were found in western part of Taiwan. However, before this report, there was no any isolate of VRE found in eastern part of Taiwan. In December 1997 and January 1998, two cases of VRE urinary tract infection were found in two regional hospitals in north-eastern Taiwan. They had received prolonged treatment with multiple antibiotics for other infections before they got VRE infection. The isolates showed susceptibility to other antimicrobial agents by routine disk diffusion susceptibility test and these two patients were successfully treated. The VRE did not spread in those two hospitals. After further study, the 3 isolates from these two patients all had minimum inhibitory concentration of vancomycin >256 microg/mL. They all carried van A gene and the pulsed-field gel electrophoresis demonstrated they belonged to different DNA types. It was concluded that VRE appeared in north-eastern Taiwan but the strains were not from a common source.

We have detected the serum marker of HBV of 32 mothers whose HBsAg present positive and their children whom were given Hepatitis B vaccine immunization throughout duration of their mothers' pregnancy, altogether making up 66 cases. In 3 of these 32 families, Hepatitis B vaccine failed to block transmission between mother and infant. Direct nucleotide sequence analysis of HBV were carried out in 7 HBsAg positive infected persons. To confirm the possibility of HBV transmission between mother and infant on molecular level, we used PCR technique and DNA sequencing method. The reasons of which HBV vaccine failed in blocking transmission were discussed at the point of views of virus variation. Besides, we make and emphasized discussion on how to tighten up the measurement of controlling the course of infection and protecting susceptible population.