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【Objective】 To explore the effect of online and offline collaborative and integrated mode (Internet + blood donation souvenirs), and develop diversified scientific ways of caring for voluntary blood donors in combination with the potential expectation of the target population, ao as to recruit and retain more blood donors. 【Methods】 A total of 4 000 blood donors from Yichang Central Blood Station from January 1 to June 30, 2022 were selected, and they could collect souvenirs from online and offline. The intelligent platform V9.5 of modern blood station management information system of Qiao Technology was used to classify the data of online and offline souvenir distribution, and digital intelligent comparison and analysis on age, occupation, education, type (first-time blood donors or repeat blood donors), region (main urban districts of Yichang and other counties and suburban districts) and gender were carried out. 【Results】 A total of 1 400 blood donors chose online souvenirs, who were mainly under 25 years old, students, female, college education or above, urban areas and regular donors; 2 600 chose offline souvenirs, who were mainly over 25 years old, male, junior college degree or below, occupations other than students (medical workers, educators, etc.), counties and suburban districts, and first-time blood donors. The collaborative and integrated mode of the two distribution methods were complementary and had a good incentive effect on blood donor recruitment. 【Conclusion】 The online and offline collaborative and integrated mode demonstrates a good effect and meets the needs of different population. Digital intelligence system is helpful to develop diversified and scientific ways of caring for voluntary blood donors, recruit and retain more blood donors, achieve high-quality development of blood collection and supply, therefore guarantee the increasing demand for clinical blood use.
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Objective:To evaluate the effect of management mode based on WeChat platform on patients with mild to moderate chronic obstructive pulmonary disease (COPD).Methods:A total of 100 patients with mild to moderate COPD treated in the outpatient or ward of the Respiratory Department of Shangqiu First People′s Hospital from January 2019 to January 2020 were included. According to the randomization criteria singular number (observation group, control group), there were 50 cases in each group. The control group received routine outpatient treatment and health education follow-up, the observation group was enrolled into the WeChat management group of COPD based on the same treatment as the control group. Smoking cessation, eight-item Morisky Medication Adherence Scale (MMAS-8) score for inhaled drug compliance, chronic obstructive pulmonary disease assessment test (CAT) questionnaire score, 6 min walking distance (6MWD) and lung function [forced expiratory volume in the first second (FEV 1) and FEV 1%pred] were compared between 2 groups before and after six months intervention. Results:After intervention, the intervention follow-up was completed in 46 patients in the observation group and 35 patients in the control group, the rate of loss to follow-up in the observation group was lower than that in the control group (8% vs. 30%) ( P<0.05); The success rate of smoking cessation, the score of MMAS-8, the score of CAT, the FEV 1 and FEV 1%pred in the observation group were higher than those in the control group [82.4% vs 53.6%, (5.17±1.06) vs (4.55±0.94) points, (6.72±4.29) vs (9.37±4.54) points, (1.87±0.44) vs (1.64±0.41) L, (69.48±10.97) vs (64.46±8.25)%] (all P<0.05). There was no significant difference in 6MWD between the observation group and the control group [(401.5±92.3) vs (382.9±79.7) m] ( P>0.05). Conclusion:Management intervention based on WeChat platform can improve the smoking cessation rate and medication compliance of patients with mild to moderate COPD, so as to reduce the symptoms of dyspnea and delay the decline of pulmonary function.
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Objective:To investigate the clinical application of the new classification criteria in children with Miller Fisher syndrome (MFS), and to analyze clinical characteristics of different types of MFS.Methods:Clinical data of MFS patients hospitalized in the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from January 2015 to December 2019 were collected and analyzed retrospectively, including demographic characteristics, clinical symptoms, neurological examination findings, laboratory examination data, diagnosis and treatment, and prognosis.The counting data was described by percentage, and the measurement data was described by median.Results:A total of 23 patients were included in the research, including 14 males and 9 females, with a median age of 4 years and 8 months.There were 3 cases of pure MFS; 5 cases of incomplete MFS, including 1 case of acute ptosis and 4 cases of acute ataxia neuropathy; 15 cases of overlapping syndrome, including 13 cases of MFS/Guillain Barre syndrome (GBS), 1 case of MFS/pharyngocervical brachial variant GBS(PCB GBS)and 1 case of MFS/GBS/Bickertaff brainstem encephalitis (BBE). In addition to Ⅲ, Ⅳ and Ⅵ cranial nerve palsy, 11 cases had the involvement of other cra-nial nerves, including 2 cases in pure MFS, 8 cases in MFS/GBS and 1 case in MFS/GBS/BBE.Autonomic nervous dysfunction occurred in 6 cases.Respiratory muscle paralysis occurred in 6 cases, including 5 cases in MFS/GBS and 1 case in MFS/GBS/BBE.Graded by the Hughes scoring system (HG score), 3 cases with pure MFS were graded 4 points; 1 case with acute ptosis was graded 0; 3 cases with acute ataxia neuropathy were graded 2 points, and the other one was graded 3 points; 1 case with MFS/PCB GBS was graded 3 points; 10 cases with MFS/GBS were graded 4 points, 1 case was graded 3 points, and the other 2 cases were graded 2 points; 1 case with MFS/GBS/BBE was graded 4 points.Twenty-two patients were treated with intravenous immunoglobulin.The HG of all patients at discharge decreased at varying degree, which was graded 0 at 6 months of follow-up.Conclusions:The clinical application of the new diagnostic classification method is helpful to the accurate diagnosis of different types of MFS.More than half of MFS cases will develop into the overlapping syndrome.The overlapping of MFS and GBS or BBE is prone to the involvement of cranial nerves except for the external ophthalmic muscles, autonomic nerve dysfunction and respiratory muscle paralysis.The disease course of MFS varies, and its diagnosis should be comprehensively made.All cases of MFS in this study have a satisfactory prognosis.
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OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.@*METHODS@#The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.@*RESULTS@#The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.@*CONCLUSION@#The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
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Female , Humans , Guanine Nucleotide Exchange Factors/genetics , Heterozygote , Intellectual Disability/genetics , Mental Retardation, X-Linked/genetics , Mutation , PhenotypeABSTRACT
Objective:To investigate the clinical phenotype and genotype of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene.Methods:The clinical data and magnetic resonance imaging (MRI) features of a male case of subcortical band heterotopia diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in August 2020 were analyzed retrospectively. At the same time, the whole exon sequencing of the families was performed by next generation sequencing method, the suspicious mutation was verified by polymerase chain reaction Sanger sequencing, and their genetic mutation characteristics were analyzed.Results:The proband, one male, aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that limb muscle tension was slightly high, intellectual and motor development was backward, and head circumference was 48 cm. MRI of his head showed diffuse thick subcortical band heterotopia. The detection of whole exon sequencing in his family showed that there was hemizygous mosaic mutation in DCX gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of oral mucosa and urinalysis were 38.2% and 44.8% respectively. His parents were wild-type, The mutation found in this patient has not been reported at home and abroad.Conclusions:The mosaic variation of DCX gene can cause subcortical band heterotopia in males. The variation of DCX gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of subcortical band heterotopia.
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Objective:To report a case of tocilizumab successfully used in a child with febrile infection-associated epilepsy syndrome (FIRES), and to provide a new idea for the treatment of FIRES in children.Methods:The diagnosis and treatment of 1 case of FIRES admitted in Children′s Hospital Affiliated to Zhengzhou University on February 15, 2021 were described, and the prognosis and follow-up of the child were evaluated. At the same time, the literatures on tocilizumab in the treatment of children′s FIRES were reviewed.Results:A 5-year-old case of FIRES was reported. The child was extremely refractory to immunotherapy and anti-seizure medicines, anesthetics and ketogenic diet. So he was treated with tocilizumab (each time 4 mg/kg) at the 36th day and 43rd day, and epileptic seizures were controlled 10 days after the 2nd doses of tocilizumab. During a follow-up of 10 months, his epileptic seizures were controlled and the cognitive behavior and speech function were well recovered. At present, only 3 cases of FIRES in children have been reported all over the world. All the seizures were well controlled and no obvious adverse reactions were observed.Conclusions:FIRES is a rare refractory epilepsy syndrome, resistant to many kinds of anti-seizure medicines or even anesthetic agents, which is difficult to treat and has poor prognosis. Preliminary trials have shown that tocilizumab is effective and well tolerated in children with FIRES. It may be a potential therapeutic modality for children with FIRES.
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Objective:To summarize the clinical characteristics of children with dystonia 28 (DYT28) caused by KMT2B gene variations so as to improve clinicians′ understanding of the disease. Methods:The clinical manifestations, treatment and gene variation data of 11 children with DYT28 caused by KMT2B gene variations were retrospectively collected and analyzed.The subjects were recruited from the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from March 2018 to January 2021.The patients were followed up. Results:There were 8 males and 3 females.The age at onset was ranging from 1 month to 6 years without inducement.Eight cases were gene-ralized dystonia and 3 cases were multifocal dystonia.The initial symptoms of 7 cases were unilateral or bilateral lower limbs tiptoeing.Four cases presented dysarthria, retching or swallowing difficulties at onset.As the disease progressed, all the cases had laryngeal dystonia, 10 cases had lower limbs dystonia, and 8 cases had upper limbs dystonia.Six cases were complicated with other dyskinesia symptoms.Ten cases had varying degrees of short stature, microcephalus, micrognathia, musculoskeletal abnormalities, intellectual disability, endocrinopathies and sleep difficulties.The brain magnetic resonance imaging showed abnormal in only 1 case.Eleven KMT2B gene pathogenic variants were found, including 8 frameshift variants, 1 in-frame variant and 2 missense variants.Four variants were novel.Eleven cases were followed up at the age of 1 year and 7 months to 17 years and 9 months.One case wasn′t given therapy.The dystonia in 3 cases was mildly improved after medication.Dysfunction of urination and defecation was disappeared in 1 case after medication.The symptom of 6 cases had no improvement after drug therapy.Among the above 6 cases, 5 drug refractory cases had deep brain stimulation, and their dystonia symptoms are all obviously improved; 2 cases had normal control of urination and defecation after deep brain stimulation.The motor scores in the Burke-Fahn-Marsden dystonia rating scale were improved by 55.8%-90.7%, and the disability scores were improved by 14.8%-69.6%. Conclusions:DYT28 caused by KMT2B gene variations is one of the most common and early-onset genetic dystonia in children.The dystonia symptom progresses from local parts to the whole body, prominently involving laryngeal muscles and lower limbs.Control of urination and defecation requires attention.Patients with mild dystonia symptoms can be effectively treated by drugs.However, patients with severe dystonia symptoms were drug refractory, and their dystonia symptoms can be effectively improved by deep brain stimulation.
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Objective:To analyze the clinical and imaging features of influenza associated encephalopathy(IAE) in children, thus contributing to enhance the efficacy of early identification, timely treatment and prognosis.Methods:Clinical data, laboratory examination, imaging data, treatment and outcomes of 40 children with IAE diagnosed and treated in the Beijing Children′s Hospital, Capital Medical University from December 2016 to January 2020 were retrospectively analyzed.Clinical features were summarized and they were further classified according to clinical imaging features.The prognosis was compared and analyzed.Results:A total of 20 boys and 20 girls were recruited, with the age of attending hospital at (4.0±2.3) years (median, 3.2 years). There were 28 children with influenza A and 12 with influenza B. All children initially had fever, and the interval between fever and symptoms of neurological onset was 24 hours (0-120 hours). The most-common symptom of neurological onset was seizures(32 cases), among which 17 patients showed continuous seizures.All children presented encephalopathy at varying degrees, including 33 cases in coma and 7 in drowsiness or cognitive decline.Thirty cases developed central respiratory failure and received mechanical ventilation.Examination results showed 30 cases had elevated aspartate transaminase (AST), 18 cases had elevated alanine transaminase (ALT), 14 cases had elevated creatinine, 31 cases had elevated lactate dehydrogenase, 16 cases had elevated blood glucose and 1 case had significantly lowered blood glucose.Blood ammonia testing was performed in 38 children and 9 cases had elevated level.The whole exon sequencing in 6 cases showed de novo heterozygous mutation of the SCN1A gene in 1 case, and heterozygous mutation of the ATP1A2 gene inherited from the mother in another case.Lumbar puncture was performed in 35 cases, and all of them had a normal range of cerebrospinal fluid leukocyte counts, while 12 cases had elevated cerebrospinal fluid proteins.Abnormal image findings were examined in 33 cases and the acute necrotizing encephalopathy was the most common one (14 cases). All children received Peramivir or Oseltamivir after admission.A total of 28 cases were treated with glucocorticoids, and 29 cases were treated with immunoglobulin.Seventeen cases died, 9 cases had disability at varying degrees, and 14 cases recovered to the baseline.Patients were divided into good prognosis group and poor prognosis group.(1) Patients in good prognosis group presented significantly shorter interval between fever and first neurological symptoms[(22.7±12.2) h vs.(38.6± 30.9) h], higher Glasgow score on admission[(7.6±2.5) points vs.(4.5 ± 1.6) points], lower ALT [15.6 (9.0-1 631.5) U/L vs.140.2 (12.3-3 232.4) U/L] and lower AST [47.6 (25.4-1 721.3) U/L vs.251.8 (21.7-4 991.6) U/L] than those in poor prognosis group (all P<0.05). (2) Glucocorticoids were applied to 17 and 11 cases in good prognosis group and poor prognosis group, while immunoglobulins were applied to 17 and 12 cases, respectively ( P>0.05). (3) Patients were further classified into cytokine storm group, excitotoxicity group and unclassifiable group according to clinical imaging findings.The Glasgow score [ (4.6±1.7) points vs.(7.6±2.2) point vs.(7.3±2.8) points] and median modified Rankin Scale score (6.0 points vs.1.5 points vs.0) were significantly different among 3 groups (all P<0.01). Conclusions:Influenza associated encephalopathy is common in infants and young children.Fever, convulsions and rapidly progressing disturbance of consciousness are the most common clinical manifestations.Acute necrotizing encephalopathy is the most common subtype of clinical imaging syndrome.Acute onset and rapid progression predict the poor prognosis of influenza associated encephalopathy.
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Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.
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【Objective】 To analyze the difference of the internal control (IC) Ct value of two sets of blood nucleic acid detection(NAT) systems for individual donation and explore the feasibility of the IC Ct value used as stability evaluation index of NAT system. 【Methods】 A total of 4342 blood samples were randomly selected from our center from June to November 2020, and the IC Ct values of NAT system were classified into three categories: 1) classified by detection items: HBV, HCV and HIV; 2) classified by sample type: negative control (NC), positive control (PC), internal quality control (QC), blood donor sample (S); 3) classified by different instruments: system A and system B, and the differences of IC Ct value were analyzed and compared. 【Results】 A total of 14 196 IC Ct values of NAT were collected, showing a non-normal distribution. 1) classified by detection items: there were differences in the median of overall IC Ct values of HBV, HCV and HIV (H=859.6, P0.05), except for HBV QC (Z=1 635)and S (Z=1 848 560), HCV S (Z=1 957 844), HIV S (Z= 2 217 855) (P<0.01). No difference in IC values (P<0.01) was noted for any detection items (NC, PC, QC and S) in the same set of detection system. 【Conclusion】 Although IC values trended to be different due to types of sample, the NC, PC, and QC samples that come with the original reagents were identical in the two detection systems. The change of IC Ct value may be used as an evaluation index for the stability of the detection system.
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OBJECTIVE@#To assess the performance of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies and its value for the prevention of birth defects.@*METHODS@#In total 28 033 pregnant women underwent NIPT test. The results were compared with that of amniotic fluid and cord blood chromosomal karyotyping analysis. A few cases were verified by array comparative genome hybridization (aCGH). All pregnant women and their fetuses were followed up until after birth.@*RESULTS@#NIPT has indicated a high risk for fetal chromosomal aneuploidies in 186 cases (0.66%), among which 101 (67.33%) were confirmed as 21, 18 and 13 trisomies by invasive prenatal diagnosis, which yielded a diagnostic rate of 86.52%, 50.00% and 19.05%, respectively. The diagnostic rates were 81.28%, 67.85%, 62.79% and 76.00% respectively for those ≥40, ≥35, 25 to 34, and <25. And the diagnostic rates were 65.91%, 60.78%, 71.79% and 80.00% for those over 35, with high risk by prenatal screening, critical risk by prenatal screening and ultrasound abnormality, respectively.@*CONCLUSION@#The NIPT is effective for screening common chromosomal aneuploidies and preventing births of neonates with trisomy 21, trisomy 18 and trisomy 13.
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Objective:To compare the effects of paliperidone palmitate and olanzapine in the treatment of schizophrenia and its influence on the metabolism of patients.Methods:From February 2017 to February 2019, 86 patients with schizophrenia admitted to the Second People's Hospital of Taizhou were divided into observation group(43 cases) and control group(43 cases) according to random number table method.The observation group was injected paliperidone palmitate into deltoid muscle, while the control group was given olanzapine orally.Both two groups were treated for 12 weeks.The changes of PANSS and CGI scores, body mass, glucose metabolism, lipid metabolism and serum prolactin were compared between the two groups before and after treatment.Results:Before treatment, there were no statistically significant differences in the PANSS score, CGI score, body mass, glucose metabolism, lipid metabolism and serum prolactin between the two groups(all P>0.05). After treatment, the PANSS score and CGI score in the control group were (37.25±3.78)points and (2.51±0.36)points, respectively, which in the observation group were (37.28±4.35)points and (2.63±0.43)points, respectively, which were lower than before treatment(control group: t=29.010 and 11.817, observation group: t=36.257 and 13.503, all P<0.05), there were no statistically significant differences between the two groups(all P>0.05). After treatment, the body weight of the observation group was (62.18±3.56)kg, which was lower than that of the control group[(68.27±4.35)kg] ( t=7.105, P<0.05). After treatment, the fasting blood glucose(FBG) and HbA1c of the control group were (5.91±0.27)mmol/L, (8.94±0.78)%, respectively, which were higher than those of the observation group [(5.39±0.34)mmol/L and (7.65±0.63)%] ( t=7.854, 8.437, all P<0.05). The levels of TC, LDL-C and TG in the control group were (4.27±0.42)mmol/L, (3.27±0.43)mmol/L, (1.87±0.28)mmol/L, respectively, which in the observation group were (3.54±0.48)mmol/L, (2.56±0.54)mmol/L, (1.35±0.36)mmol/L, respectively, the differences were statistically significant between the two groups ( t=7.505, 6.745, 7.477, all P<0.05). After treatment, the serum level of prolactin of the control group was (84.35±12.41)μg/L, which was higher than that of the observation group [(59.87±9.53)μg/L]( t=10.259, P<0.05). Conclusion:Paliperidone palmitate is as effective as olanzapine in the treatment of schizophrenia, but it has little effect on body weight, glucose metabolism, lipid metabolism and prolactin level.
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Objective:To investigate the correlation between the expression of microRNA-16, mircoRNA-124 and mircoRNA-195 in peripheral blood of schizophrenic patients and their cognitive and social functions.Methods:From January 2016 to December 2018, 112 schizophrenic patients admitted to the Second People's Hospital of Taizhou were selected as observation group, and 93 healthy examinees from the Second People's Hospital of Taizhou were selected as control group.The expression of mircoRNA-16, mircoRNA 124 and mircoRNA 195 in peripheral blood was detected by real-time quantitative fluorescent PCR.The cognitive function of patients was evaluated by Chinese version of Montreal Cognitive Assessment Scale (MoCA), and the social function of inpatients with mental illness was evaluated by SSPI.Results:The expression of mircoRNA-16 (0.03±0.01) and mircoRNA 195(0.08±0.03) in peripheral blood of the observation group was lower than that of the control group[(0.12±0.02) and (0.27±0.06)], while the expression of mircoRNA 124 (14.63±3.24) of the observation group was higher than that of the control group (7.45±1.39), the differences were statistically significant( t=41.763, 19.898, 29.389, all P<0.05). The score of MoCA scale in the observation group[(22.17±3.45)points]was lower than that in the control group[(28.39±1.28)points]( t=16.465, P<0.05). The SSPI score of the observation group[(26.58±5.16)points]was lower than that of the control group[(45.37±3.27)points]( t=30.405, P<0.05). MicroRNA-16 and microRNA-195 were positively correlated with MoCA scale score and SSPI scale score ( r=0.641, 0.724, SSPI scale score: r=0.801, 0.657, all P<0.05), while microRNA-124 was negatively correlated with MoCA scale score and SSPI scale score ( r=-0.738, -0.769, all P<0.05). Conclusion:The expression of mircoRNA-16 and mircoRNA-195 in peripheral blood of schizophrenic patients decreased, while the expression of mircoRNA-124 increased.The expressions of mircoRNA-16 and mircoRNA-195 were positively correlated with cognitive and social functions, while mircoRNA-124 was negatively correlated with cognitive and social functions.
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Objective:To explore the effect of different intensity electrical stimulation combined with biofeedback pelvic floor muscle training on postpartum pelvic floor dysfunction (PFD) in vaginal delivery patients.Methods:Seven hundred and twenty patients with PFD after vaginal delivery from January 2017 to April 2019 in Jinshan Branch of Shanghai Sixth People′s Hospital were selected. The patients were divided into control group (358 cases) and observation group (362 cases) by random digits table method. The control group was treated with conventional electric stimulation combined with biofeedback pelvic floor muscle training, and the observation group was treated with enhanced electric stimulation combined with biofeedback pelvic floor muscle training. The electrophysiological indexes of pelvic floor, incidence of stress urinary incontinence (SUI), pelvic organ prolapse/urinary incontinence function questionnaire (PISQ-12) score and the 6 measurement points of quantitative stage of pelvic organ prolapse (POP-Q) staging method after treatment were compared between 2 groups. The 6 measuring points were 3 cm from central line of anterior wall of vagina to edge of the hymen (Aa point), furthest point in the upper part of anterior wall of vagina between top of vagina or anterior vault to Aa point (Ba point), 3 cm point from central line of vaginal posterior wall to hymen (Ap point), farthest point of posterior vaginal vault or upper part of posterior vaginal wall from top of vagina to Ap point (Bp point), farthest point of the top of vagina after cervix or hysterectomy (C point) and position of posterior fornix in presence of cervix (D point).Results:The fatigue degree of class Ⅰ muscle fibers, fatigue degree of class Ⅱ muscle fibers, average electromyography value of pre rest, average electromyography value of slow muscle, average electromyography value of post rest, maximum electromyography value of fast muscle and dynamic vaginal pressure in observation group were significantly better than those in control group: (- 2.51 ± 0.22)% vs. (- 3.29 ± 0.37)%, (- 2.89 ± 0.27)% vs. (- 3.18 ± 0.32)%, (3.41 ± 0.39) μV vs. (2.91 ± 0.28) μV, (30.12 ± 0.22) μV vs. (28.29 ± 0.37) μV, (3.14 ± 0.55) μV vs. (2.51 ± 0.30) μV, (39.89 ± 0.27) μV vs. (38.18 ± 0.32) μV and (76.92 ± 28.18) cmH 2O(1 cmH 2O=0.098 kPa) vs. (69.10 ± 30.66) cmH 2O, and there were statistical differences ( P<0.01). The incidence of SUI and PISQ-12 score in observation group were significantly lower than those in control group: 14.36% (52/362) vs. 27.09% (97/358) and (28.49 ± 3.61) scores vs. (37.62 ± 3.83) scores, and there were statistical differences ( P<0.01). The Aa, Ba, Ap and C points in observation group were significantly improved than those in control group: (- 2.69 ± 0.21) cm vs. (- 2.38 ± 0.13) cm, (- 2.30 ± 0.52) cm vs. (- 2.21 ± 0.33) cm, (- 2.91 ± 0.35) cm vs. (- 2.85 ± 0.24) cm and (- 5.33 ± 065) cm vs. (- 5.20 ± 056) cm, and there were statistical differences ( t=2.365, 2.469, 2.691 and 2.889; P<0.05); there were no statistical differences in Bp and D points between 2 groups ( P>0.05). Conclusions:After vaginal delivery, the patients with PFD who use strong electric stimulation combined with biofeedback pelvic floor muscle training can significantly improve the pelvic floor electrophysiological index and POP-Q staging, reduce the incidence of SUI, and improve the quality of sexual life.
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Objective:To summarize the clinical data of patients with acute pandysautonomia (APD) and discuss the treatment and prognosis of them.Methods:A total of 13 patients with APD in the Department of Neurology, Beijing Children′s Hospital, Capital Medical University, from January 2010 to December 2019, were investigated retrospectively.The general data, clinical symptoms, autonomic nerve examination and function test, laboratory examination, treatment and follow-up were collected and analyzed.Results:There were 4 males and 9 females in 13 patients with APD, with an average age was 8 years and 5 months (3 years and 8 months to 12 years and 5 months ). The average course of disease was 94.5 d (14-410 d). The common initial symptoms were gastrointestinal motility disorder (11 cases), dysuria (3 cases), and upright syncope/vertigo (3 cases). During the course of the disease, all the patients manifested with gastrointestinal motility disfunction and dyshidrosis, glands involvement and orthostatic hypotension in 12 cases, abnormal pupil in 9 case and urinary retention in 7 case.Other symptoms included fatigue in 9 cases, emotional disorder in 4 cases, limb weakness in 2 cases, and sensory disturbance in 2 cases.All the patients were treated with intravenous immunoglobulin (IVIG), and 3 cases combined with glucocorticoid.Six patients with severe gastrointestinal symptoms were treated with intravenous nutrition; 4 patients were fed with jejunum, 3 cases of whom returned to normal diet within 1-12 months, and 1 patient was followed up for 5 years and 2 months.Hyponatremia was found in 7 cases, which recovered in 2-30 d. Nine cases were followed up for 1 month to 9 years.Seven cases were normal in daily work and study, with satisfactory nutritional status, stable mood and no relapse.Conclusions:The clinical manifestations of APD are varied.The initial symptoms are gastrointestinal motility disorders, orthostatic hypotension, urinary retention and hyponatremia.Individualized multi-disciplinary comprehensive management for symptoms, especially the comprehensive treatment of gastrointestinal motility disorders, management of postural hypotension, and the urinary system diagnosis and individualized treatment of can shorten the length of hospital stay and improve the prognosis effectively.
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Objective:To detect the expression of β-1, 3-N-acetylglucosamine aminotransferase 3 (B3GNT3) in pancreatic cancer tissues and analyze its clinical significance.Methods:Bioinformatics methods were used to analyze the mRNA levels of B3GNT3 in pancreatic cancer tissues and normal tissues, and to analyze the relationship between its expression and the survival rate of pancreatic cancer patients. The clinicopathological data of 78 patients with pancreatic cancer undergoing surgical treatment were retrospectively analyzed. Immunohistochemical method was used to detect the expression level of B3GNT3 protein in pancreatic cancer tissue and normal tissues, and to analyze its relationship with clinicopathological characteristics of patients with renal clear cell carcinoma.Results:The results of bioinformatics analysis showed that B3GNT3 mRNA was significantly highly expressed in pancreatic cancer tissues, and was significantly related to the overall survival rate and disease-free survival rate of the patients. The results of immunohistochemistry showed that the expression of B3GNT3 in pancreatic cancer tissues was significantly higher than that in normal tissues. The high expression of B3GNT3 in pancreatic cancer tissue was related to tumor stage, tumor size and lymph node metastasis (all P<0.05), but not related to age, gender, and tumor grade (all P>0.05). Conclusions:B3GNT3 plays an important role in the progression and evolution of pancreatic cancer, and is expected to become an important therapeutic target and a potential biomarker for pancreatic cancer.
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The clinical applications of tyrosine kinase inhibitors (TKI) greatly prolong the survival of patients with chronic myelogenous leukemia (CML). However, many problems such as drug side effects, drug resistance or intolerance and economic stress caused by long-term drug treatment have prevented a considerable number of patients from adhering to treatment. At present, a number of clinical trials have suggested that CML patients with stable deep molecular response can achieve treatment-free remission. This article reviews the current research status of discontinuation of TKI in patients with CML.
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Objective:To investigate the clinical effect of "standardized 4 steps" in rheumatic mitral valve repair.Methods:We retrospectively analyze the clinical data of 136 rheumatic mitral valve disease patients undergoing mitral valve repair with "standardized 4 steps" from June 2016 to July 2019 and investigate its clinical outcome. The clinical outcome was compared with those of patients undergoing rheumatic mitral valve replacement.Results:The perioperative mortality was 2.94% in patients with mitral valve repair. Compared with preoperative period, left atrial diameter was significantly reduced and the early diastolic blood flow velocity across mitral valve(E peak) was significantly decreased at 1-week postoperative and follow-up period. The elimination rate of atrial fibrillation was 80.7% during follow-up period. The early clinical outcome and related complications had no difference between mitral repair group and mitral valve replacement group. The main echocardiographic indexes in two groups also had no statistical significance.Conclusion:The early clinical outcome of rheumatic mitral valve repair with "standardized 4 steps" is satisfactory. Rheumatic mitral valve repair with "standardized 4 steps" is feasible, safe and effective.
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OBJECTIVE@#To explore the genetic basis for a family with non-syndromic autosomal recessive deafness.@*METHODS@#The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents.@*RESULTS@#The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c.462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father.@*CONCLUSION@#The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.
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Female , Humans , Male , Hearing Loss, Sensorineural , Genetics , High-Throughput Nucleotide Sequencing , Mutation , Myosins , Genetics , PedigreeABSTRACT
Objective To establish a test of autoantibody-panel for the diagnosis of autoimmune cerebellitis (AC) and determine the prevalence of AC in patients with cerebellar ataxia of unknown etiology.Methods Autoantibody screening tests with indirect immunofluorescence were performed in serum and cerebrospinal fluid (CSF) samples of 400 previously'idiopathic'Chinese patients with cerebral ataxia (inpatients and outpatients in Peking Union Medical College Hospital or referred from hospitals of Beijing Encephalitis Group from 2016 to 2018).Immunotherapy was given to autoantibody positive patients and the effectiveness of immunotherapy was assessed.Detailed AC autoantibodies panel included anti-glutamate decarboxylase 65 (GAD65) antibody,anti-Tr (delta notch-like epidermal growth factor-related receptor (DNER)) antibody,anti-zinc finger protein 4 (ZIC4) antibody,anti-inositol 1,4,5-trisphosphate receptor 1 (ITPR1) antibody,anti-homer protein homolog 3 (Homer 3) antibody,anti-neurochondrin (NCDN) antibody,anti-carbonic anhydrase-related protein (CARP) antibody and anti-Purkinje cell antibody 2 (PCA2) antibody.Results Eight out of 400 (2％) ataxia patients were positive for this AC panel tests,of whom two were positive for anti-GAD65 antibody,two for anti-Tr antibody,one for anti-PCA2 antibody,one for anti-Homer 3 antibody and two were positive for serum anti-NCDN antibody.Autoantibodies against ZIC4,ITPR1 and CARP were not detected in this cohort.Two of the eight ataxia patients also presented with limbic encephalitis,and only one anti-GAD antibody patient was screened with underlying small cell lung carcinoma (SCLC).All the eight patients received immunotherapy and four experienced partial response.Conclusions Autoimmune cerebellitis is the cause of acquired cerebellar ataxia.Tests of autoantibodies associated with AC have diagnostic value for paraneoplastic and non-paraneoplastic cerebellar ataxia.Immunotherapy may yield partial response in patients with AC.