ABSTRACT
Objective:To analyze the clinical manifestations, gene mutation characteristics and treatment effects of patients with GATOR1 complex-related epilepsy, and to explore the diagnosis and treatment of this disease.Methods:The medical history, electroencephalogram, brain imaging, genetic test results, treatment and follow-up data of patients with GATOR1 complex-related epilepsy who attended the Children′s Hospital Affiliated to Capital Institute of Pediatrics, Beijing Tsinghua Changgung Hospital, and Shanghai Deji Hospital from May 2017 to July 2022 were retrospectively analyzed.Results:A total of 16 patients with GATOR1 complex-related epilepsy were collected, including 7 males and 9 females. The age of onset of epilepsy was from 2 months to 14 years. Ten cases had focal seizures only, 2 cases had generalized seizures only, and 4 cases had coexistence of focal seizures and generalized seizures, of which generalized seizures included generalized tonic-clonic seizure, spastic seizure, and myoclonic seizure. Among the 16 patients, 2 had infantile spasms, 3 had familial focal epilepsy with variable focus, and 1 had sleep related hyperkinetic epilepsy. Electroencephalogram intervals suggested multiple brain areas discharge or diffuse discharge. A total of 13 DEPDC5 gene mutation sites, 1 NPRL2 gene mutation site, and 2 NPRL3 gene mutation sites were found; 4 sites of DEPDC5 gene were reported sites, the rest were unreported; all mutations had pathogenic significance; 8 cases had nonsense mutation, 1 case had large fragment deletion, 4 cases had frameshift mutation, 1 case had integer mutation, 2 cases had splicing mutation; 13 cases′ mutation was inherited from parents, 2 cases had new mutation, and 1 case had unverified mutation. Magnetic resonance imaging (MRI) showed 5 of the 16 patients were normal, and 11 had abnormal cerebral cortex structure, manifested as bottom-of-sulcus focal cortical dysplasia (FCD), abnormal formation of sulci and (or) gyri with or without ill-defined gray-white matter and malformation of cortical dysplasia of the bilateral brain. Seven patients underwent stereotactic electroencephalogram (SEEG) monitoring, and the SEEG showed low-amplitude fast rhythm at the beginning in 6 patients, of whom 5 cases started from the frontal lobe, and 1 case started from the parietal lobe. Eight patients were only treated with drugs, 1 with single-drug therapy and the rest with multi-drug combination therapy. Eight patients underwent surgery. Among them, 5 patients with DEPDC5 gene mutation underwent epileptogenic cortex excising after SEEG monitoring, and postoperative pathological examinations showed FCDⅡ, FCDⅢ or non-specific changes; 1 patient was waiting for surgery. One patient with NPRL3 gene mutation underwent epileptogenic foci resection and postoperative pathological examinations showed FCDⅡa; the other patient with NPRL3 gene mutation underwent radiofrequency thermocoagulation after SEEG monitoring. Follow-up showed that 3 patients were seizure-free with drug treatment, and 4 patients had fewer seizures after drug treatment. Six cases underwent epileptic foci resection. Five of them were assisted by SEEG to locate the epileptic foci before surgery and were seizure-free after the operation, but the range of surgical resection was wider than the abnormal range shown by MRI; whereas 1 case who was not assisted by SEEG showed no improvement. There was still 1 case who underwent SEEG-guided radiofrequency thermocoagulation and had no improvement after operation. Conclusions:GATOR1 complex-related epilepsy mostly manifests as focal seizures. SEEG shows that seizures originate from the frontal lobe more often, and cortical developmental abnormalities are often found. DEPDC5 gene mutations are the most common ones, mostly inherited from parents, with high incomplete penetrance rate. Therefore, genetic testing is recommended for non-acquired brain structural abnormalities. For those who are refractory to drugs, a radical cure can be obtained by resection of the epileptogenic foci after preoperative evaluation.
ABSTRACT
Nonalcoholic fatty liver disease (NAFLD) refers to a chronic, obesity-related liver disease, which has become one of the most common liver diseases in children.NAFLD is also regarded as the liver symptom of metabolic syndrome in children, which is closely related with obesity, insulin resistance, abnormal lipid metabolism and even cardiovascular-related disease in children.Therefore, it is noteworthy to provide more concerns and efficiency strategies regarding prevention and treatment of NAFLD in children.Previous studies have shown that abnormal fructose metabolism could play an essential role in the physiopathological process of NAFLD.Here in, this study aims to perform the comparation of the similarities and differences regarding fructose metabolism in liver under physiological and pathological conditions, in addition, to clarify the problems and challenges that need to be overcome in clinical studies and bench work related to NAFLD.
ABSTRACT
Objective@#To evaluate the lipid and calorie content in breast milk samples from neonatal intensive care unit of the Fifth Medical Center of Chinese People's Liberation Army General Hospital, and to explore the correlation between the lipid and calorie content of breast milk and perinatal factors, so as to provide ideas and methods for individualized feeding of neonates.@*Methods@#A total of 305 breast milk samples from 183 neonatal mothers in Fifth Me-dical Center of Chinese People′s Liberation Army were tested for fat and calorie by adopting Creamatocrit dynamic breast milk analyzer. All breast milk samples were sent to the breast milk bank of neonatal intensive care unit within 24 hours after collection and refrigeration. Breast milk samples were rewarmed at 37 ℃ for 30 minutes and then determined by the same nurses in the same environment from 1000 to 1100 Am daily. SPSS 17.0 was used for statistical analysis and P<0.05 was used for statistical analysis.@*Results@#The fat content of 305 breast milk samples from 183 infants was (45.65±26.76) g/L and the caloric content was(762.61±206.64) kcal/L(1 kcal=4.184 kJ). There was no significant difference between colostrum, transitional milk and mature milk in terms of fat (F=2.053, P=0.130) and calorie(F=0.830, P=0.437)content.There was no significant difference in colostrum (fat: F=1.119, P=0.331, calorie: F=2.928, P=0.058), transitional milk (fat: F=0.530, P=0.590, calorie: F=1.377, P=0.257), and mature milk (fat: F=0.612, P=0.545, calorie: F=1.101, P=0.337) in terms of fat content and calorie content among different gestational weeks newborns.Multiple linear regression analysis showed that mothers with pregnancy complications were important factors affecting breast milk lipid and calorie content.Mothers with hypertension during pregnancy are important factors affecting the lipid content of mature milk.@*Conclusions@#Breast milk calorie content may be higher than the industry-standard 670 kcal/L, and Creamatocrit dynamic breast milk analyzer can be used to determine the content of breast milk calories and fat, which can be more accurate assessment of neonatal calories and fat intake.Whether the mother is complicated with complications or not during pregnancy is an important factor affecting the colostrum fat and caloric content.
ABSTRACT
Objective To investigate the change of the nutritional status of elderly patients in Chinese major hospitals dynamically with nutritional risk screening 2002 (NRS 2002) and subjective global assessment (SGA) during hospitalization.Methods A prospective,multi-center survey was conducted on over 65 years old patients who were admitted in departments of gastroenterology,respiratory medicine,general surgery,geriatrics,thoracic surgery,neurology,orthopedics and medical oncology of 9 large hospitals in China for 7-30 days between June 2014 and September 2014.On admission and within 24 hours after discharge,the clinical data were recorded,physical indices were measured,and laboratory examination were conducted.NRS 2002 and SGA were used to make an evaluation.The nutritional supports and clinical outcomes were also recorded and then the correlation between nutritional status and clinical outcomes were analyzed.Results A total of 2558 patients above 65 years old were included into the study.Compared with their status on admission,their grip strength,upper arm circumference and crural circumference were reduced significantly at discharge (P＜0.05).The total protein,albumin and hemoglobin levels were significantly lower than those on admission (P＜0.05).The incidence of nutritional risk (NRS 2002 score ≥ 3) and malnutrition (SGA B + C) on admission were lower than those at discharge (51.1％ vs 53.0％,32.6％ vs 35.6％).The hospitalization time and medical expenses were higher in patients with malnutrition on admission than in those with normal nutrition intakes.The nutritional status at discharge was negatively correlated with hospitalization time and medical expenses.61.3％ patients having nutritional risk did not take nutritional support during the hospital stay,while utilization rate of parenteral nutrition was higher than that of enteral nutrition in patients receiving nutritional support (19.6％ vs 11.9％).Conclusion Elderly patients have higher possibilities of facing nutritional risk or malnutrition on admission,these are associated with poor clinical outcomes and their nutritional status will not improve significantly at discharge.Therefore,the screening and evaluation of nutritional status in elderly patients during hospitalization should be conducted and their nutritional intervention should be standardized so as to improve the clinical outcomes.
ABSTRACT
Objective@#To observe the cellular damage of low-dose combined exposure to Hg, Pb and Cd on hippocampal neurons in rat.@*Methods@#SH-SY5Y cells were randomly divided into 8 groups by 2×2×2 factorial design: control group, Pb exposure group, Hg exposure group, Pb+Hg exposure group, Pb+Cd exposure group, Hg+Cd exposure group and Pb+Cd+Hg exposure group. And the cell viabilities were measured. On this basis, an animal model was established. Twenty eight-week-old SD pregnant rats were randomly divided into four groups by random number table, and five in each group: the control group(distilled water), 1-fold metal mixture exposure group (1×MM, poisoning solution containing mercury chloride 0.15 mg/L, lead acetate trihydrate 25 mg/L, cadmium chloride 7.5 mg/L), 5-fold metal mixture exposure group (5×MM, poisoning solution containing mercury chloride 0.75 mg/L, lead acetate trihydrate 125.00 mg/L, cadmium chloride 37.50 mg/L), 10-fold metal mixture exposure group (10×MM, poisoning solution containing mercury chloride 1.50 mg/L, lead acetate trihydrate 250.00 mg/L, cadmium chloride 75.00 mg/L). Pregnant rats drank water until delivery. Twenty male pups were selected and exposed to these metals through breast milk until weaned. The heavy metals dose of poisoning water was adjusted, and then the weaned rats were exposed to heavy metals via drinking poisoning water until adulthood (postnatal day 83). The blood samples and brain hippocampus samples were collected to observe the ultrastructural changes of hippocampus, and to determine the levels of Hg, Pb and Cd in blood. In addition, apoptosis rate and fluorescence intensity of reactive oxygen species and intracellular free calcium concentration ([Ca2+]i) in hippocampal neurons were measured.@*Results@#Cellular factorial design analysis showed that Hg+Pb+Cd (at no observed adverse effect level, 1.0, 0.5 and 0.1 μmol/L, respectively)had a interaction on cell viability after 48 or 72 hours of combined exposure (P<0.05). The results of ultrastructure showed that mitochondria decreased, ridges and matrixes gradually dissolved in rat hippocampal neurons of 5×MM group; nuclear chromatin aggregated, more ridges and matrixes dissolved and the mitochondria also decreased in rat hippocampal neurons of 10×MM group. The concentration of Hg, Pb and Cd in the blood of 1×MM group, 5×MM group and 10×MM group were higher than those in the control group, and the differences were statistically significant (P<0.001). There was no significant difference in apoptosis rate between the 1×MM group and the control group. The apoptosis rate of 5×MM group and 10×MM group was higher than that in the control group, and the differences were statistically significant (P<0.001). There was no statistically significant difference in the fluorescence intensity of reactive oxygen species in hippocampal neurons of the 1×MM group and the control group. The fluorescence intensity of reactive oxygen species in the 5×MM group and the 10×MM group was higher than that in the control group, the difference was statistically significant (P<0.05). There was no significant difference in the fluorescence intensity of [Ca2+]i between the 1×MM group and the control group. The fluorescence intensity values of [Ca2+]i in the 5×MM group and the 10×MM group were higher than the control group, the differences were statistically significant (P<0.001).@*Conclusion@#Low-level combined exposure to Hg, Pb, and Cd caused synergistic neurotoxic damage, and the process may be related to the changes of neuronal apoptosis, reactive oxide species, and [Ca2+]i levels.
ABSTRACT
ObjectiveTo investigate the status and explore methods to improve the quality of diabetic education for young and middle-aged patients.MethodsOutpatients took part in diabetic education program and young and middle-aged diabetic patients that visited the eastern district of affiliated hospital of Qingdao university medical college from May 1st,2010 to Oct.30th,2010 were investigated with questionnaire for their diabetic education status and demands.ResultsA total of 381 patients were enrolled in this study.59.1％ clinical diabetic education program participants were aged 60 or older and only 40.9％ were aged 20 to 59 years,of whom 66.7％ had been diagnosed with diabetes more than 5 years and only 33.3％ had been diagnosed with diabetes less than 5 years.According to the survey of 101 young and middle-aged diabetic patients,only 16.8％ patients younger than 60 took part in different kinds of diabetic education programs but about 95％ young and middle aged patients wished to participate in diabetic education programs.ConclusionYoung and middle-aged diabetic patients have received much less diabetic education than elderly patients.Diabetic education for young and middle-aged patients needs to be strengthened urgently.
ABSTRACT
Objective To investigate the pregnancy opportunity and outcome of patients with sysmetic lupus erythematosus (SLE).Methods We carried out a retrospective analysis of the clinical information of patients who suffered from SLE complicated with pregnancy and were hospitalized to People's Hospital of Peking University from December of 1992 to February of 2012.Chi-square test were used for statistical analysis.Results Forty-nine cases of patients with SLE complicated with pregnancy had 52 pregnancies in total.In 27 cases of planned pregnancies,24 cases(89％ )resulted in live births and 5 cases( 18％ ) had flares during pregnancy.Of the 24 live births,3 cases( 12％)were premature deliveries and 4 cases(17％) had low birth weight infants.In 25 cases of unplanned pregnancies,12 cases (48％) resulted in live births and 20 cases (80％) had flares during pregnancy.Of the 12 live births,6 cases(50％ ) were premature deliveries and 6 cases (50％) were low birth weight infants.The patients in the planned pregnancy group tended to have flares during pregnancy more frequently than those in the unplanned group (P＜0.01),the former were more likely to have live births than the latter (P＜0.01) and were less likely to have premature delivery (P＜0.05).Conclusion Patients with SLE should have planned pregnancy and need collaborative supervision of both rheumatology and immunology department and obstetric department to improve live birth rate,decrease premature delivery and the activity of SLE during pregnancy.
ABSTRACT
Objective To analyze the feasibility of the recombinant cholera toxin B subunit (rCTB) as a carrier protein candidate for the preparing of polysaccharide-protein conjugate, and to discuss the immune effects of tetanus toxoid (TT) as the carrier protein in mucosal delivery vaccine. Methods The refolded pentrumer protein, rCTB was obtained by genetic engineering methods. Then conjugated the refold-ed protein with group A meningococcal polysaccharide (GAMP) using the chemical method(ADH) ,the pol-ysaccharide-protein conjugates(GAMP-rCTB) were prepared. BALB/c mice were immunized either intraper-itoneally ( i. p. ) or intranasally ( i. n. ) with GAMP-rCTB. Moreover, GAMP-TT vaccine that TT as carrier proteins was i.n. immunized to the mice. The evaluation of immunology is performed. Results The conju-gates of polysaccharide-potein with the rCTB and TT as protein carrier both are able to elicit high level of GAMP specific IgG antibody in serum after i.n. immunization, and the conjugates can also elicit specific IgA antibody in lung lavage and intestinal mucosa. Conclusion rCTB and TT can both as the protein carri-er for polysaccharide-protein conjugate as mucosal vaccine. The route of intranasal may be more ways for im-mune function than i.p. immunization when rCTB is used as the carrier of the polysaccharide-protein conju-gates.