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1.
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.

2.
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.

3.
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)
Autism Spectrum Disorder , Germ Cells , Humans , Male , Mosaicism , Mutation , /genetics , Siblings
4.
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.

5.
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.

6.
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.

7.
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.

8.
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.

9.
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 , Histone Demethylases/genetics , Humans , Male , Mental Retardation, X-Linked/pathology , Mutation, Missense/genetics , Pedigree , Phenotype , Whole Exome Sequencing
10.
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.

11.
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.

12.
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.

13.
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.

14.
Article in Chinese | WPRIM | ID: wpr-805692

ABSTRACT

A farm worker in Baodi District of Tianjin was diagnosed with Tsutsugamushi disease due to fever and intermittent cough for more than 3 months.The patient's diagnosis and treatment process was complicated, and the diagnosis was delayed in the early stage of the disease because the clinician neglected the occupational history and lacked knowledge about the prevention and control of tsutsugamushi disease. As an important part of the epidemiological history, occupational history is crucial for the diagnosis of occupational related diseases. Clinical thinking runs through the whole process of clinical diagnosis and disease treatment, and correct clinical thinking can effectively reduce the occurrence of misdiagnosis.Clinicians should ask and record career history in detail to improve the quality of health care.

15.
Article in Chinese | WPRIM | ID: wpr-799919

ABSTRACT

The incidence of human brucellosis is on the rise worldwide. The disease can affect various systems. The clinical manifestations are complex and non-specific, and the diagnosis is difficult. Especially the clinicians in the non-epidemic areas have sporadic cases on the pest free areas. Lack of experience in diagnosis and treatment leads to misdiagnosis and mistreatment, which affects prognosis. This article reports on the epidemiology, clinical manifestations, laboratory tests and treatment of a patient with unexplained fever and brucellosis in our department in June 2019. Raise the attention of clinicians in non-epidemic areas to the disease and enhance people's awareness of protection in non-epidemic areas.

16.
Article in Chinese | WPRIM | ID: wpr-344118

ABSTRACT

OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother. The patient was diagnosed with autosomal recessive cutis laxa type 2A (ARCL2A). CONCLUSION A case with ARCL2A was diagnosed. The novel mutation has expanded the spectrum of ATP6V0A2 mutations. Exome sequencing is a useful tool for the diagnosis of complex genetic diseases.

18.
Article in Chinese | WPRIM | ID: wpr-512864

ABSTRACT

Objective To explore the diagnostic and treatment value of serum B-type natriuretic peptide (BNP) levels for the chronic heart failure and its correlation with cardiac function classification.Methods 155 patients with heart failure were selected as treatment group.According to cardiac function,grade Ⅱ in 48 cases,grade Ⅲ in 56 cases,grade Ⅳ in 51 cases.122 healthy people during the same period were selected as the control group.Retrospectively detected serum BNP levels of the subjects,and the BNP levels of the treatment group were detected before and after treatment,and its correlation with heart function was analyzed.Results The serum BNP level of the treatmentgroup was (738.67 ± 61.32) pg/mL,which was higher than (22.36 ± 21.89) pg/mL of the control group,the difference was statistically significant (t =19.38,P < 0.05).The serum BNP level of the treatment group after treatment was (329.58 ± 90.74) pg/mL,which was lower than (738.67 ± 161.32) pg/mL of the control group,the difference was statistically significant(t =19.38,P < 0.05).The serum BNP levels of grade Ⅱ,grade Ⅲ and grade Ⅳ patients after treatment compared with pre-treatment,the differences were statistically significant (t =13.65,15.18,17.39,all P < 0.05),from pre-treatment to pro-treatment,the serum BNP levels were gradually increased with increased grade,the differences were statistically significant (t =10.61,21.33,11.06,16.40,all P < 0.05).Conclusion The serun BNP level of chronic heart failure patients significantly increases,and it increases with the increase of cardiac function classification,and shows correlation.As the objective indicators of chronic heart failure,it has better clinical diagnosis value and treatment and prognostic significance.

19.
Article in Chinese | WPRIM | ID: wpr-512850

ABSTRACT

Objective To observe the clinical effect of recombinant human growth hormone(rhGH) in the treatment of Turner syndrome(TS).Methods The clinical data of 40 children with TS who were treated with rhGH were retrospectively analyzed.Results After treatment for 6 months,the GV,IGF-1 levels [(9.4 ± 2.7) cm/a,(433.9 ± 164.9)μg/L] were significantly higher than those before treatment [(2.5 ± 0.4)cm/a,(186.7 ± 7.33) μg/L],the differences were statistically significant(t =45.562 5,5.061 0,all P < 0.05).The treatment dose of rhGH,initial treatment age had no significant relationship with GV,the GH peak before treatment had no significant correlation with GV.There was no obvious adverse reactions in the treatment process.Conclusion For children with TS,rhGH can improve the height,improve the therapeutic effect,reduce the burden of family and society.Low dose of rhGH in the treatment of TS can achieve better curative effect,the initial treatment age and growth rate in children had no obvious relationship,the insulin growth factor is an important index during the treatment,and the changes of insulin growth should be closely monitored,and adjusting the dosage of the drug in order to achieve the best therapeutic effect.

20.
Military Medical Sciences ; (12): 48-52, 2017.
Article in Chinese | WPRIM | ID: wpr-510255

ABSTRACT

Objective To investigate the effects of cyclopamine (CYP) on endometrial carcinoma (HEC-1A) cell survival and on induction of cell apoptosis .Methods HEC-1A cells were treated with various doses of CYP (0, 5,10, 20 and 40 μmol/L) for 24 h respectively .Then,the inverted microscope was used to observe cell morphology .Cell proliferation and apoptosis were tested by CCK-8 assay and AO/EB bi-labelling assay.The apoptosis rate of HEC-1A was analyzed using flow cytometric analysis , and the key gene expression of Bax and Bcl-2 was detected by quantitative PCR .Results The HEC-1A cells exhibited dramatic morphological changes after treatment with CYP and in a dose-dependent manner .CYP significantly inhibited HEC-1A cell proliferation using CCK8 assays(P<0.05), and induced cell death by AO/EB bi-labelling assay.Moreover,flow cytometry analysis showed that CYP treatment resulted in HEC-1A cell apoptosis, and that a higher concentration of CYP induced severer cell apoptosis (P<0.05).Meanwhile, CYP treated HEC-1A cells exhibited up-regulated expression of Bax and down-regulated expression of Bcl-2 according to Q-PCR.Conclusion Our findings indicatee that CYP can inhibit HEC-1A cell proliferation and induce cell apoptosis .

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