RESUMEN
Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as"fetus AS";chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.
RESUMEN
Objective:To explore the effects of Jianpi Bushen Jiedu Prescription on the proliferation and migration of hepatocellular carcinoma cells; To discuss its possible mechanism.Methods:Using human highly metastatic liver cancer cell line (HCCLM3) as the research object, they were randomly divided into control group and TCM group (100, 200, 400, 800, 1 600, 3 200 μg/ml Jianpi Bushen Jiedu Prescription) and Western medicine group (2.5, 5, 10, 20, 40 μmol/L sorafenib) using a random number table method. Cell viability was detected using cell counting reagent (CCK-8) method; HCCLM3 cells were divided into control group and TCM (Jianpi Bushen Jiedu Prescription 800 μg/ml) group and combined group (Jianpi Bushen Jiedu Prescription 800 μg/ml +sorafenib 20 μmol/L). Western blot method was used to detect the protein expressions of kinase/signaling transducer and transcriptional activator (JAK2/STAT3) pathway related proteins (p-JAK2, JAK2, p-STAT3, STAT3) in each group.Results:Compared with the control group, viability and mobility of HCCLM cell in TCM group and Western medicine group decreased ( P<0.01 or P<0.05); compared with the control group, the protein expressions of P-JAK2, JAK2, P-STAT3 and STAT3 in the TCM group and the combined group decreased ( P<0.05), and the JAK2 protein expression in the combined group was lower than that in the TCM group ( P<0.05). Conclusion:Jianpi Bushen Jiedu Prescription can inhibit the proliferation and migration of HCC cells by regulating JAK2/STAT3 pathway.
RESUMEN
BACKGROUND:Spheroid culture of mesenchymal stem cells in bioreactors is an in vitro culture method to maintain their stemness properties and allow for large-scale expansion.Clarifying its effects on the immunoregulation effect of stem cells is beneficial for their clinical application. OBJECTIVE:To investigate the effects of spheroid culture in a rotating bioreactor on the secretion of inflammatory factors by human placenta-derived mesenchymal stem cells. METHODS:Placenta-derived mesenchymal stem cells isolated from human placenta tissue were cultured in two-dimensional culture or a rotating bioreactor culture.Cell morphology and proliferation ability were observed using inverted phase contrast microscopy,immunohistochemical staining,and CCK-8 assay.The gene expression and protein secretion of several inflammatory factors were detected by RT-qPCR and flow immunofluorescence assay. RESULTS AND CONCLUSION:(1)Mesenchymal stem cells cultured in a rotating bioreactor aggregated into multicellular spheroids,which gradually increased in number and volume.(2)The hematoxylin-eosin staining results showed that the mesenchymal stem cells cultured in the rotating bioreactor for 4 days were evenly distributed and had normal morphology in the spheroids.(3)Immunohistochemical staining results revealed many mesenchymal stem cells with Ki-67 positive in the spheroids.(4)The CCK-8 assay results exhibited that the viability of mesenchymal stem cells derived from spheroid culture was significantly higher than that of cells cultured in two-dimensional culture.(5)The results of RT-qPCR and flow immunofluorescence assay demonstrated that the gene expression and protein secretion(interleukin 1β,interleukin-4,interleukin-6,interleukin-8,interleukin-10,interleukin-17,tumor necrosis factor α and interferon α)of inflammatory factors derived from mesenchymal stem cells cultured in the rotating bioreactor were significantly higher than those in two-dimensional culture.(6)Our results indicate that spheroid culture in a rotating bioreactor can significantly elevate the secretion ability of various inflammatory factors by human placenta-derived mesenchymal stem cells,and enhance the immunoregulatory effect of human placenta-derived mesenchymal stem cells.
RESUMEN
Objective:To study the current status of longitudinal extrauterine growth restriction (EUGR) in extremely preterm infants (EPIs) and to develop a prediction model based on clinical data from multiple NICUs.Methods:From January 2017 to December 2018, EPIs admitted to 32 NICUs in North China were retrospectively studied. Their general conditions, nutritional support, complications during hospitalization and weight changes were reviewed. Weight loss between birth and discharge > 1SD was defined as longitudinal EUGR. The EPIs were assigned into longitudinal EUGR group and non-EUGR group and their nutritional support and weight changes were compared. The EPIs were randomly assigned into the training dataset and the validation dataset with a ratio of 7∶3. Univariate Cox regression analysis and multiple regression analysis were used in the training dataset to select the independent predictive factors. The best-fitting Nomogram model predicting longitudinal EUGR was established based on Akaike Information Criterion. The model was evaluated for discrimination efficacy, calibration and clinical decision curve analysis.Results:A total of 436 EPIs were included in this study, with a mean gestational age of (26.9±0.9) weeks and a birth weight of (989±171) g. The incidence of longitudinal EUGR was 82.3%(359/436). Seven variables (birth weight Z-score, weight loss, weight growth velocity, the proportion of breast milk ≥75% within 3 d before discharge, invasive mechanical ventilation ≥7 d, maternal antenatal corticosteroids use and bronchopulmonary dysplasia) were selected to establish the prediction model. The area under the receiver operating characteristic curve of the training dataset and the validation dataset were 0.870 (95% CI 0.820-0.920) and 0.879 (95% CI 0.815-0.942), suggesting good discrimination efficacy. The calibration curve indicated a good fit of the model ( P>0.05). The decision curve analysis showed positive net benefits at all thresholds. Conclusions:Currently, EPIs have a high incidence of longitudinal EUGR. The prediction model is helpful for early identification and intervention for EPIs with higher risks of longitudinal EUGR. It is necessary to expand the sample size and conduct prospective studies to optimize and validate the prediction model in the future.
RESUMEN
Objective To investigate the correlation between serum vitamin D level and central precocious puberty(CPP)in girls.Methods A total of 103 girls(case group)with central precocious puberty from Ningbo Woman and Children's Hospital and 53 healthy girls(control group)from health check-ups in Ningbo Women and Children's Hospital were collected as subjects.The serum levels of 25-hydroxyvitamin D3[25(OH)D3]in the two groups were detected by chemiluminescence method.The weight and height of girls in the case group were measured.The serum levels of follicle-stimulating hormone(FSH)and its peak value,luteinizing hormone(LH)and its peak value,estradiol(E2),prolactin(PRL),human chorionic gonadotropin(HCG)and thyroid function were measured by radioimmunoassay.The peak value of LH/FSH was calculated.B ultrasound examination of uterine adnexa was completed to calculate uterine volume and bilateral ovarian volume.According to the results of serum 25-(OH)D3,girls in the case group were divided into normal vitamin D group and vitamin D deficiency group,and the differences of hormone levels,uterine and ovarian development between the two groups were compared.Results The serum level of 25-(OH)D3 in case group was lower than that in control group,and the vitamin D deficiency rate in case group was higher than that in control group,with statistical significance(P<0.05).The age of breast nodules in vitamin D deficiency group was lower than that in vitamin D normal group(P<0.05).There were no significant differences in body weight,height,body mass index(BMI),uterine volume and left ovarian volume between vitamin D normal group and vitamin D deficiency group(P>0.05),and the right ovarian volume in vitamin D deficiency group was significantly higher than that in vitamin D normal group(P<0.05).There were no significant differences in serum levels of FSH,LH,PRL,HCG,peak value of FSH and thyroid function between normal and deficient groups(P>0.05).The levels of E2,LH and LH/FSH in vitamin D deficiency group were significantly higher than those in vitamin D normal group(P<0.05);25-(OH)D3 was negatively correlated with LH/FSH peak(r=-0.197,P<0.05),but was not significantly correlated with thyroid function,FSH,LH,PRL,E2,HCG,FSH and LH peak(P>0.05).Conclusion Vitamin D deficiency is associated with central precocious puberty in girls.Vitamin D deficiency may lead to early onset of precocious puberty.Vitamin D deficiency may affect the hypothalamic-pituitary-gonadal axis function,resulting in changes in reproductive hormone indexes and consequent increase in ovarian volume in girls.
RESUMEN
OBJECTIVE@#To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.@*METHODS@#The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members.@*RESULTS@#The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29.@*CONCLUSION@#The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.
Asunto(s)
Niño , Humanos , Familia , Receptores de Inositol 1,4,5-Trifosfato/genética , Mutación , Ataxias Espinocerebelosas/genética , Degeneraciones EspinocerebelosasRESUMEN
OBJECTIVE@#To analyze the genetic etiology of a Chinese pedigree affected with short stature.@*METHODS@#A child with familial short stature (FSS) who had presented at the Ningbo Women and Children's Hospital in July 2020 and his parents and paternal and maternal grandparents were selected as the study subject. Clinical data of the pedigree was collected, and the proband was subjected to routine growth and development assessment. Peripheral blood samples were collected. The proband was subjected to whole exome sequencing (WES), and the proband, his parents and grandparents were subjected to chromosomal microarray analysis (CMA).@*RESULTS@#The height of the proband and his father was 87.7cm (-3 s) and 152 cm (-3.39 s) respectively. Both of them were found to harbor a 15q25.3-q26.1 microdeletion, which has encompassed the whole of the ACAN gene which is closely associated with short stature. The CMA results of his mother and grandparents were all negative, and above deletion has not been included in population database and related literature, and was rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). After 14 months of rhGH treatment, the height of the proband has increased to 98.5 cm (-2.07 s).@*CONCLUSION@#The 15q25.3-q26.1 microdeletion probably underlay the FSS, in this pedigree. Short-term rhGH treatment can effectively improve the height of the affected individuals.
Asunto(s)
Niño , Femenino , Humanos , Masculino , Agrecanos/genética , Enanismo/genética , Pueblos del Este de Asia , Mutación , LinajeRESUMEN
The patient is a female infant who was born at a gestational age of 30+4 weeks in the breech position and was delivered by assisted vaginal delivery. She was admitted to the neonatal department of Tianjin First Central Hospital for 44 days, during which she had stable respiration, oxygen saturation, and regular weight gain. The patient was discharged home by her family. The infant was readmitted to the hospital due to poor appetite for 15 hours and irregular breathing with weak response for 4 hours at the corrected gestational age of 37+2 weeks at 47 days after birth. The day before admission, the patient's mother experienced throat discomfort, and on the day of admission, the mother had a fever, with the highest temperature of 37.9 centigrade (she later tested positive for SARS-CoV-2 antigen). About 15 hours before admission, the family noticed that the patient had poor milk intake and weakened suction. About 4 hours before admission, the patient developed irregular breathing and weakened responses. After admission, the patient presented frequent apnea, and it was not relieved by adjusting the respiratory mode and parameters of non-invasive assisted ventilation, as well as caffeine citrate to stimulate the respiratory center. The patient was eventually given mechanical ventilation and other symptomatic support treatments. The pharyngeal swab was positive for COVID nucleic acid testing with a Ct value of 20.1 for the N gene. And the chest X-ray showed multiple patchy shadows in both lungs. The patient was diagnosed with critical coronavirus disease (COVID) caused by the Omicron variant in premature infants. After treatment, the child was clinically cured and discharged 8 days after hospitalization. Symptoms of COVID in premature infants may be atypical, and the condition can deteriorate rapidly. During the Omicron variant epidemic, we should pay more attention to premature infants so as to detect severe and critical cases as early as possible, and treat them actively to improve the prognosis.
Asunto(s)
Humanos , Femenino , Niño , Lactante , Recién Nacido , SARS-CoV-2 , COVID-19 , Recien Nacido Prematuro , Edad GestacionalRESUMEN
Objective:To investigate the clinical and genetic features of patients with ACTL6B gene variations, and to report novel pathogenic variations of the ACTL6B gene, summarize the clinical phenotypes and genotypes of the gene. Methods:The clinical phenotypes and genotypes of a infant with developmental epileptic encephalopathy carrying the ACTL6B gene variations, who visited the Department of Neurology, Capital Institute of Pediatrics-Peking University Teaching Hospital on March 12, 2021 were analyzed. The phenotypes and genotypes of patients carrying the ACTL6B gene variations reported in the literature were also summarized and analyzed. Results:The proband was a 2-month-old male presented with convulsive seizures, development delay, dystonia, and cherry erythema in the fundus. The whole exome sequencing of his family showed that he carried compound heterozygous variation c.937-2A>G(p.?), c.11delG(p.G4Afs *86) which derived from his parents respectively. These 2 genotypes had not been reported. A total of 42 cases with ACTL6B gene variation were reported in the literature and in this study. There were 11 de novo heterozygous variations and 31 bi-allelic variations inherited from the parents (24 homozygous and 7 compound heterozygous). Individuals with variations tended to have epilepsy, development delay, ambulation disability, speech disability and dystonia. Minor facial dysmorphisms and autism spectrum disorder also can be seen. Conclusion:This paper summarizes the clinical and genetic features of patients with ACTL6B gene variations, reports 2 novel variations and a novel combination of this gene with cherry erythema in the fundus.
RESUMEN
Objective:To explore the clinical characteristics and genetics of a Chinese patient with Gitelman syndrome (GS) and improve the awareness and diagnosis of GS among clinicians.Methods:Retrospectively analyzed the GS patient's clinical feature, laboratory examination, diagnosis, treatment and literature review admitted to Hebei General Hospital in September 2022.Results:A twelve-year-old boy was admitted to our department due to weakness of lower limbs. Laboratory tests after admission showed hypokalemia, hypomagnesemia, hypocalcemia and metabolic alkalosis. Genetic testing showed tow compound heterozygous mutations in the SLC12A3 gene (c.1456G>A and c.634G>A), which ultimately diagnosed as GS. The patient is on the mend and allowed to leave the hospital after treated by potassium supplement.Conclusion:The rate of leak diagnosis is high. Genetic testing should be undergo earlier if the patients suspected GS.
RESUMEN
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.
RESUMEN
Objective:To seek any correlation between and prognosis and hospitalization costs of stroke survivors with dysphagia.Methods:The records of 1370 stroke survivors admitted to the rehabilitation departments of 3 public hospitals in Weifang were studied. Of them, 499 (36.4%) were diagnosed with dysphagia and 871 were not. Binary logistic regression and multiple linear regression were employed to analyze the correlation between dysphagia and the occurrence of pneumonia, modified Rankin Scale (mRS) scores, modified Barthel index (MBI) scores, length of stay and total hospitalization cost.Results:After adjusting for confounding factors, the risk of pneumonia in the dysphagia group was 2.4 times higher. At discharge, the risk of an mRS≥3 was 3.3 times greater and that of an MBI score <60 was 1.7 times greater with dysphagia. Multiple stepwise linear regression showed that dysphagia was significantly associated with higher mRS scores at discharge, lower MBI scores, and longer hospital stays. The standardized regression coefficients predict that after the length of stay, dysphagia is the strongest predictor of the cost of hospitalisation, followed by ADL ability, pneumonia, supratentorial, haemorrhagic stroke and CCI.Conclusions:Dysphagia is a significant predictor of the hospitalization costs of stroke patients. It is recommended to identify and treat dysphagia as early as possible to improve the prognosis of such patients and reduce the economic burden.
RESUMEN
Objective To analyze the clinical and electroencephalogram(EEG)characteristics of nonepileptic seizures in low aged children younger than 6 years.Methods The case data of low-aged children younger than 6 years who were admitted to the Affiliated Children's Hospital of Capital Institute of Pediatrics from July 2019 to July 2021 with episodic symptoms as the main complaint and under-went video EEG monitoring were retrospectively analyzed.According to the patient's clinical symptoms and signs,combined with the video EEG monitoring results,the diagnosis was made by two neurologists.To summarize the clinical characteristics of nonepileptic seizures,and analyze the characteristics of video EEG.Results A total of 433 cases of nonepileptic seizures were recorded by video EEG,inclu-ding 398 cases(91.9％)of physiological nonepileptic seizures and 35 cases(8.1％)of psychogenic nonepileptic seizures.Interparoxys-mal epileptic discharges were detected in 24 cases(5.5％,24/433),and 15 cases(3.5％)in Rolandic region were the most common.The motor seizures were most common(392 cases,90.5％).There were 41 cases(9.5％)of non-motor seizures.Nonepileptic my-oclonic seizures were the most common in nonepileptic seizures.The number of men with physiological nonepileptic seizures was more than that of women,and the number of women with psychogenic nonepileptic seizures was more than that of men.There was significant differ-ence in gender composition between the groups(x2=12.513,P＜0.001).The proportion of psychogenic nonepileptic seizures in the 1-3 years group was significantly higher than that in the 0-1 year group(x2=8.713,P=0.003),but there was no statistical difference compared with the 3-6 years group(x2=5.253,P=0.022).Conclusion The EEG of nonepileptic seizures in low-aged children younger than 6 years is mostly normal,the epileptic discharge rate is low in the interictal period,and there is no characteristic EEG change in the interseizure period,the interictal background EEG can be used as a diagnostic reference.The clinical characteristics of non-epileptic seizures in low-aged children younger than 6 years are complex and diverse,mainly physiological nonepileptic seizures,and nonepileptic myoclonic seizures are the most common.Psychogenic nonepileptic seizures are relatively common in children aged 1-3 years.
RESUMEN
Ketogenic diet can supplement blood ketone,provide energy for skeletal muscle,and affect the athletic performance and recovery of animals and humans after fatigue.In this paper,it was found that ketogenic diet transformed muscle fibers from Ⅱb to Ⅱa through axonal germination and nerve reinnervation,improved the quality and function of mitochondria of fast muscle and increased histone acetyltransferase to enhance skeletal muscle strength.Using ketone body to provide energy,it can reduce glycolysis and improve the ability of fatty acid oxidation in slow muscle to improve exercise endurance;It can reduce endoplasmic reticulum stress,oxidative stress and inflammatory reaction of skeletal muscle,protect the body from injury,reduce the consumption of muscle glycogen and the accumulation of lactic acid,reduce fatigue after exercise and promote recovery.It is considered that ketogenic diet has low negative effects on the body,can improve sports performance and accelerate fatigue recovery,and can be used as a diet scheme in competitive sports and rehabilitation training.
RESUMEN
Objective:To study the effects of Jianpi Bushen Jiedu Decoction on the epithelial-mesenchymal transformation of nude mice with HCCLM3 subcutaneous transplanted tumor by regulating JAK2/STAT3 pathway.Methods:HCCLM3 subcutaneous transplanted tumor model was established in mice. After the successful modeling, 24 nude mice were divided into blank group, TCM group and combined group according to random number table method, with 8 mice in each group. Mice in the TCM group were given 0.68 mg/ml alcohol extract of Jianpi Bushen Jiedu Decoction for gavage, and the combined group were given sorafenib suspension plus alcohol extract of Jianpi Bushen Jiedu Decoction 3.5 mg/ml for gavage, once a day, for consecutive 4 weeks. The effects of Jianpi Bushen Jiedu Decoction on tumor volume, tumor weight of HCCLM3 subcutaneous transplanted tumor and mice body weight were observed; Western blot was used to detect the expressions of E-cadherin, N-cadherin, Vimentin and JAK2/STAT3 pathway-related proteins in subcutaneous transplanted tumor tissues of hepatocellular carcinoma of mice in each group.Results:Compared with the control group, the average tumor weight of subcutaneous transplanted tumor decreased significantly in the TCM group and the combined group ( P<0.05), and the expressions of JAK2, STAT3, p-JAK2, p-STAT3, N-cadherin, and Vimentin decreased significantly in subcutaneous transplanted tumor tissue ( P<0.05), while E-cadherin increased ( P<0.05). Conclusion:Jianpi Bushen Jiedu Decoction can inhibit the growth of subcutaneous transplanted tumor of hepatocellular carcinoma in mice. The mechanism may be related to inhibiting the activation of JAK2/STAT3 pathway, thereby inhibiting the epithelial-mesenchymal transformation of hepatocellular carcinoma.
RESUMEN
@#Objective To investigate the occurrence and characteristics of dysphagia and aspiration in the elderly in nursing home in Weifang, Shandong, China.Methods From January to June, 2021, 837 elderly people from 10 nursing homes in Weifang were randomly selected and investigated with general situation questionnaire, Fried Frailty Phenotype, Ohkuma questionnaire and Volume-Viscosity Swallowing Test.Results The prevalence of dysphagia and aspiration was 44.2% and 12.3% respectively. There were significant differences in the prevalence of dysphagia among ages and health condition (χ2 > 8.437, P<0.05). The prevalence of dysphagia and aspiration was higher in men than in women (χ2 > 4.060, P < 0.05). The incidence of oral dysphagia was higher in men than in women, and the incidence of esophageal dysphagia was lower (χ2 > 20.830, P<0.001). Oral dysphagia was predominant in the elderly with stroke, Alzheimer's disease, and Parkinson's disease (χ2=27.579, P<0.001), and esophageal dysphagia and airway protection dysfunction were predominant in the elderly with chronic respiratory disease (χ2 > 20.241, P<0.01).Conclusion The dysphagia and aspiration are prevalent in the elderly in nursing homes, and varies with different genders and basic diseases.
RESUMEN
Objective To explore the polymorphism of microbial community after laparoscopic abdominal exploration by using bacterial 16s ribosomal DNA (16S rDNA) sequencing technology. Methods New Zealand rabbits were divided into model group and control group. The rabbits in the model group were operated by portable laparoscopy, and the rabbits in the control group were not treated. One week later, the peritoneal effusions of the model group and the control group were taken for 16S rDNA sequencing to analyze the microbial community polymorphism. To explore the changes of microbial community in peritoneal effusion in the model group compared with the control group. Results After 16S rDNA sequencing, bioinformatics was used to determine the microbial communities. Inter group difference analysis showed a good similarity of microbial communities between the two groups. OTU taxonomic analysis and species composition analysis (Rank-Abundance curve and Venn diagram) found that the microbial community level of the model group was significantly higher than that of the control group. Alpha diversity analysis (Sobs, Ace, Shannon, Simpson) showed that the richness and diversity of microbial community in the model group were higher than those in the control group. Microbial composition analysis showed that the number of miscellaneous bacteria in the model group increased by about 30% compared with the control group. The species differences between the two groups were tested for significance. It was found that Pasteurellales, Neisseria and Tsukamurella increased significantly. Conclusion The diversity of microbial communities in peritoneal effusion increases after laparoscopic abdominal exploration in New Zealand rabbits, and the most significant increases are Pasteurella, Neisseria and Tsukamura.
RESUMEN
Objective:To investigate the predictive value of acute gastrointestinal injury (AGI) score for the severity of acute pancreatitis (AP), infectious pancreatic necrosis and patients′ death.Methods:Clinical data of 719 patients with AP were collected from the AP database of the National Clinical Research Center for Digestive System Diseases from January 2016 to June 2018. According to the severity of the disease, they were divided into MAP group (506 cases), MSAP group (112 cases) and SAP group (101 cases). AGI, APACHEⅡ, MCTSI and BISAP scores were calcululated in the three groups. Receiver operating characteristic curve (ROC) was drawn and the area under the curve (AUC) was calculated. The predictive value of the above four scoring systems for the hospitalization days, disease severity, infectious pancreatic necrosis and death was analyzed, respectively.Results:There were no cases of infectious pancreatic necrosis or death in the MAP group, but there were 9 cases of infectious pancreatic necrosis and 2 deaths in the MSAP group and 19 cases of infectious pancreatic necrosis and 8 deaths in the SAP group. There was a strong correlation between AGI score and AP patients′ hospitalization days ( r=0.619). AUC of AGI, APACHEⅡ, MCTSI and BISAP score in predicting the AP patients′ severity (MSAP+ SAP) was 0.967 (95% CI 0.951-0.982), 0.769(95% CI 0.720-0.899), 0.842(95% CI 0.809-0.875), 0.862 (95% CI0.832-0.893). AUC for forecasting infectious pancreatic necrosis was 0.803, 0.677, 0.692, 0.724, and the 95% CI was 0.724-0.882, 0.573-0.781, 0.582-0.636, 0.801-0.812. AUC for predicting death in patients with AP were 0.915, 0.597, 0.659, 0.812, and the 95% CI were 0.843-0.986, 0.444-0.751, 0.498-0.698 and 0.882-0.926. AGI score had the highest predictive value, followed by BISAP score, and the correlation between these two scores was the closest. The predictive value of AGI combined with BISAP score for infectious pancreatic necrosis and patient death (AUC were 0.837, 0.942, 95% CI were 0.770-0.903, 0.897-0.987) was better than that of AGI and BISAP score alone. Conclusions:AGI score combined with BISAP score is more effective in predicting the severity of AP, the occurrence of infectious pancreatic necrosis or patient death.
RESUMEN
Objective:To report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation.Methods:Among 979 patients with epilepsy and developmental delay who were admitted to the Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2015 to October 2019, a total of 13 patients were selected from 12 families with KCNQ2 gene mutation by whole exome sequencing technology. Suspected mutations were verified by Sanger sequencing on the probands and their parents to identify the source. The clinical phenotype and genotype were analyzed according to these results.Results:Among the 13 patients with epilepsy, the onset age of four cases were older than six months [two cases in infancy (epilepsy encephalopathy), one case in early childhood (epilepsy encephalopathy) and one case in adolescence (benign epilepsy)]. Eight cases were treated with oxcarbazepine, of whom five cases were seizure free, and two cases showed partial response (>50%). Two cases treated with topiramate were seizure free. Five novel mutations were found in this research, including c.379T>G(p.Y127D), c.1A>C(initial codon mutation), c.708G>C(p.W236C), c.1027G>T(p.A343S) and c.1649T>G(p.V550G).Conclusions:Although it was rare in clinical work, the variation of KCNQ2 gene existed in patients with childhood-onset epilepsy and adolescent-onset epilepsy. Meanwhile, five novel mutations of KCNQ2 gene were reported, which further expanded its gene spectrum. This research supported that oxcarbazepine was the efficient medicine for the KCNQ2-associated epilepsy. Genetic testing showed great help to the treatment of epilepsy.
RESUMEN
OBJECTIVE@#To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD).@*METHODS@#Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%).@*RESULTS@#NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism.@*CONCLUSION@#ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.