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1.
Clinical Medicine of China ; (12): 287-291, 2023.
Article in Chinese | WPRIM | ID: wpr-992506

ABSTRACT

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.

2.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 695-701, 2023.
Article in Chinese | WPRIM | ID: wpr-995235

ABSTRACT

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.

3.
Chinese Journal of Neurology ; (12): 133-142, 2023.
Article in Chinese | WPRIM | ID: wpr-994810

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.

4.
International Journal of Traditional Chinese Medicine ; (6): 581-585, 2023.
Article in Chinese | WPRIM | ID: wpr-989678

ABSTRACT

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.

5.
Chinese Journal of Medical Genetics ; (6): 76-80, 2023.
Article in Chinese | WPRIM | ID: wpr-970882

ABSTRACT

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.


Subject(s)
Child , Humans , Family , Inositol 1,4,5-Trisphosphate Receptors/genetics , Mutation , Spinocerebellar Ataxias/genetics , Spinocerebellar Degenerations
6.
Chinese Critical Care Medicine ; (12): 545-547, 2023.
Article in Chinese | WPRIM | ID: wpr-982630

ABSTRACT

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.


Subject(s)
Humans , Female , Child , Infant , Infant, Newborn , SARS-CoV-2 , COVID-19 , Infant, Premature , Gestational Age
7.
Chinese Journal of Medical Genetics ; (6): 478-482, 2023.
Article in Chinese | WPRIM | ID: wpr-981774

ABSTRACT

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.


Subject(s)
Child , Female , Humans , Male , Aggrecans/genetics , Dwarfism/genetics , East Asian People , Mutation , Pedigree
8.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 467-472, 2022.
Article in Chinese | WPRIM | ID: wpr-923563

ABSTRACT

@#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.

9.
Chinese Journal of Neurology ; (12): 553-559, 2021.
Article in Chinese | WPRIM | ID: wpr-885461

ABSTRACT

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.

10.
Chinese Journal of Pancreatology ; (6): 89-93, 2021.
Article in Chinese | WPRIM | ID: wpr-883524

ABSTRACT

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.

11.
Chinese Journal of Medical Genetics ; (6): 1097-1100, 2021.
Article in Chinese | WPRIM | ID: wpr-922005

ABSTRACT

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.


Subject(s)
Humans , Male , Autism Spectrum Disorder , Germ Cells , Mosaicism , Mutation , /genetics , Siblings
12.
J Genet ; 2020 Jun; 99: 1-6
Article | IMSEAR | ID: sea-215511

ABSTRACT

Smith–Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may present polyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.

13.
Chinese Journal of Medical Genetics ; (6): 1352-1355, 2020.
Article in Chinese | WPRIM | ID: wpr-879497

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a hemizygous c.1565C>T missense variant in exon 11 of the KDM5C gene. The transition has resulted in replacement of serine by phenylalanine at position 522 (p.Ser522Phe). Sanger sequencing showed that the patient's two elder brothers and mother carried the same variant, which was predicted to be probably damaging by SIFT, PolyPhen2 and Mutation_Taster. The three affected brothers presented with similar clinical phenotypes characterized by mental retardation, speech delay, behavioral problem, self-limited epilepsy responsible to medication, short stature and microcephaly. The mother only had mild cognitive impairment and learning disability. The same variant was not found in their father and was unreported previously.@*CONCLUSION@#The c.1565C>T (p.Ser522Phe) of the KDM5C gene probably underlay the X-linked recessive mental retardation Claes-Jensen type in this pedigree.


Subject(s)
Aged , Female , Humans , Male , Histone Demethylases/genetics , Mental Retardation, X-Linked/pathology , Mutation, Missense/genetics , Pedigree , Phenotype , Exome Sequencing
14.
Journal of China Pharmaceutical University ; (6): 24-28, 2020.
Article in Chinese | WPRIM | ID: wpr-821019

ABSTRACT

@#Taking plastic packaging materials as an example, this paper mainly summarizes the general principles of pharmacopoeias and guiding principles of relevant government departments related to the compatibility studies of drugs and packaging materials at home and abroad, with much reference to relevant monographs and literature. The purpose and specific methods of extraction and interaction studies are summarized and discussed. The existing problems and solutions in compatibility research are also proposed in this review to provide some refe-rence for researchers in relevant fields.

15.
China Pharmacy ; (12): 957-962, 2020.
Article in Chinese | WPRIM | ID: wpr-820844

ABSTRACT

OBJECTIVE:To investigate the inhibitory effects of total alkaloids of Gelsemium elegans (TAG) on the proliferation and angiogenesis of human colon cancer cells. METHODS :Human colon cancer cell line HT- 29 and HUVEC were cultured in vitro . After the intervention of low- ,medium-,high-dose TAG (40,80,120 μg/mL),the morphology of the two cells was observed by fluorescence inversion microscope. The survival rate of HT- 29 cells and HUVEC was detected by CCK- 8 assay. Flow cytometry was used to detect HT- 29 cell cycle. The migration rate ,invasion rate and tube number of HUVEC were observed by scratching test ,Transwell invasion experiment and tube formation experiment. RESULTS :Compared with blank group ,HT-29 cells and HUVEC were decreased to different extents in TAG groups ;dead cells were observed ,and the survival rate of both decreased significantly (P<0.05 or P<0.01). The proportion of HT- 29 cells at G 2/M phase in TAG groups as well as those at G 0/G1 phase in medium-dose group were increased significantly ;the proportion of HT- 29 cells at S phase in TAG groups as well as those at G 0/G1 phase in high-dose group were decreased significantly (P<0.05 or P<0.01). Survival rate ,migration rate and invasion rate of HUVEC were decreased significantly in TAG groups ,and tube number was also decreased significantly at each time point during 4-24 h(P<0.01). CONCLUSIONS :TAG have inhibitory effect on the proliferation of human colon cancer HT- 29 cells and HUVEC,can change HT- 29 cell cycle ,inhibit the migration ,invasion and tube formation of HUVEC.

16.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 834-839, 2020.
Article in Chinese | WPRIM | ID: wpr-867152

ABSTRACT

Objective:To explore the abnormal sensory manifestations of children with autism spectrum disorder (ASD).Methods:A total of 269 ASD children with sensory symptoms (ASD toddler group: under 3 years old( n=110), and ASD preschool children: 3-6 years old( n=159)) were investigated by self-made children's sensory abnormality questionnaire, and 175 typically developing(TD) children were compared.SPSS 26.0 software was used for statistical analysis, including descriptive statistics, t test and χ 2 test. Results:The incidence of sensory abnormalities in ASD group was 95.17%, which was higher than that in TD group (78.86%; χ 2=28.224, P<0.001), and the incidence of multiple sensory domain symptoms in ASD group was 84.77%, which was higher than that in TD group (63.77%; χ 2= 22.608, P<0.001). The incidence of sensory symptoms in ASD toddler group was 98.18%, which was not statistically different from that in TD toddler group (92.59%)(χ 2=3.210, P=0.073). The incidence of multiple sensory domain symptoms in ASD toddler group was higher (85.19%), which was statistically different from that in TD toddler group (66.00%)(χ 2=7.613, P=0.006). In the four items of sensory symptoms (auditory hyperresponsiveness, auditory sensory seeking, tactile hyperresponsiveness and tactile sensory seeking), the proportion of moderate to severe of the first three items in ASD group were 66.67%, 72.08% and 61.54%, which were higher than those in TD group (46.81%, 56.36% and 38.46%)(χ 2= 9.652, P=0.002, χ 2= 7.822, P=0.005, χ 2= 4.631, P=0.031), but the proportion of moderate to severe of four items in ASD toddler group were not statistically different from that in TD toddler group at all ( P>0.05). The incidence of functional impairment caused by four items of sensory symptoms in ASD group (68.55%, 65.99%, 63.25% and 48.87%) was higher than those in TD group (45.74%, 28.18%, 26.92% and 27.12%) (χ 2= 12.814, P<0.001; χ 2= 40.456, P<0.001; χ 2= 11.429, P=0.001; χ 2= 7.930, P=0.005). The incidence of functional impairment caused by auditory sensory seeking and tactile hyperresponsiveness in ASD toddler group (57.65% and 55.56%) was higher than that in TD toddler group (31.58% and 0) and the incidence of the other two symptoms in these two groups were not statistically different.There was no statistical difference in the incidence of sensory symptoms between ASD toddler group and ASD preschool group, neither the incidence of multiple sensory domain symptoms ( P>0.05). Conclusion:Sensory abnormalities are common in autistic children, and most of them involve two or more sensory domains. Attention should be paid to the occurrence, quantity, degree and functional impairment of their symptoms.

17.
Chinese Journal of Digestive Endoscopy ; (12): 654-658, 2019.
Article in Chinese | WPRIM | ID: wpr-797792

ABSTRACT

Objective@#To evaluate the efficacy and safety of a novel lumen-apposing metal stent(LAMS) in endoscopic ultrasonography(EUS)-guided transgastric drainage of pancreatic fluid collections(PFC).@*Methods@#A retrospective study of 46 patients was performed who underwent EUS-guided transgastric drainage of PFC with placement of LAMS from September 2015 to April 2017. Clinical data were reviewed and follow-up data were obtained by telephone and outpatient contact.@*Results@#A total of 49 LAMS were placed in 46 patients (2 LAMS were placed in 3 patient respectively for multiport access). The operation success rate was 95.9%(47/49), complications occurred in 14 patients(31.8%), including 2 severe complications (delayed hemorrhage and peritonitis). Additional intervention was performed in 10 patients(22.7%). The mean hospital stay was 6 days (1-40 days) and patients were followed for a mean time of 18.4 months (9-28 months). Treatment success was achieved in 40 patients(90.9%). Stent removal was performed after a mean time of 59.4 days (20-142 days), and recurrence rate was 10%(4/40) during the follow-up period.@*Conclusion@#Drainage of PFC using LAMS with special design is effective and relatively safe.

18.
Chinese Journal of Digestive Endoscopy ; (12): 654-658, 2019.
Article in Chinese | WPRIM | ID: wpr-792055

ABSTRACT

Objective To evaluate the efficacy and safety of a novel lumen-apposing metal stent (LAMS) in endoscopic ultrasonography(EUS)-guided transgastric drainage of pancreatic fluid collections (PFC). Methods A retrospective study of 46 patients was performed who underwent EUS-guided transgastric drainage of PFC with placement of LAMS from September 2015 to April 2017. Clinical data were reviewed and follow-up data were obtained by telephone and outpatient contact. Results A total of 49 LAMS were placed in 46 patients ( 2 LAMS were placed in 3 patient respectively for multiport access ) . The operation success rate was 95. 9%( 47/49 ) , complications occurred in 14 patients ( 31. 8%) , including 2 severe complications ( delayed hemorrhage and peritonitis ) . Additional intervention was performed in 10 patients(22. 7%). The mean hospital stay was 6 days (1-40 days) and patients were followed for a mean time of 18. 4 months ( 9-28 months) . Treatment success was achieved in 40 patients( 90. 9%) . Stent removal was performed after a mean time of 59. 4 days ( 20-142 days) , and recurrence rate was 10%( 4/40) during the follow-up period. Conclusion Drainage of PFC using LAMS with special design is effective and relatively safe.

19.
Chinese Journal of Pancreatology ; (6): 123-126, 2019.
Article in Chinese | WPRIM | ID: wpr-744133

ABSTRACT

Objective To compare the diagnostic value of two different types of puncture needles guided by endoscopic ultrasonography for pancreatic solid masses.Methods The clinical data of 176 pancreatic solid tumor patients who received endoscopic fine needle aspiration (EUS-FNA) in Shanghai Changhai Hospital from January 2018 to December 2018 was retrospectively analyzed.The acquired specimens were analyzed by cytology and histology.The patients were divided into 25G acupuncture needle group (25G group,63 cases) and 22G acupuncture needle group (22G group,113 cases) according to the type of acupuncture needle.The satisfaction score of specimen,the positive rate of puncture and diagnostic accuracy of malignant masses were compared between the two groups.Results The satisfaction of specimen in 25G group (44.6 ± 18.8) was higher than 22G group (20.5 ± 18.1),and the differences were statistically significant (P =0.047).The positive rates of puncture were 79.3% and 85.8%,respectively,and the differences were not statistically significant (P =0.267).Thirty nine of 176 patients underwent surgical resection.Thirty three cases of malignant were diagnosed pathologically.The accuracy of 25G and 22G group was 81.3% and 86.9%,respectively,and the differences were not statistically significant.Conclusions The accuracy and positive rate of 25G and 22G needle in the diagnosis of pancreatic solid masses are comparable,but compared with 25G needle,22G needle can obtain more tissue specimen.

20.
Journal of China Pharmaceutical University ; (6): 540-543, 2019.
Article in Chinese | WPRIM | ID: wpr-807895

ABSTRACT

@#In this study, triazazole moiety was introduced to piroxicam, a nonsteroidal anti-inflammatory drug, via bioisosterism to produce eight target analogs, which were structurally characterized by 1H NMR and MS. These target compounds were tested for inhibitory activities on pancreatic cancer cell(Capan-1)and leukemia cell(L1210). The results showed that compound 6b had good antiproliferative activity against Capan-1 cells(IC50=3. 6±0. 5 μmol/L); while compound 6a had good antiproliferative activity against L1210 cells(IC50=1. 8±0. 2 μmol/L), indicating that the introduction of the imidazolo[1, 2-b][1, 3, 4]triazazole moiety could be helpful to improve the antitumor activity of these compounds.

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