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OBJECTIVE@#To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).@*METHODS@#A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Subject(s)
Child , Female , Humans , Pregnancy , Autistic Disorder/genetics , Brain , Computational Biology , Genetic Counseling , Mutation , Nerve Tissue Proteins/genetics , Neuro-Oncological Ventral Antigen , Neurodevelopmental Disorders , RNA-Binding ProteinsABSTRACT
ObjectiveTo investigate the association between spontaneous portosystemic shunt (SPSS) and hepatorenal syndrome (HRS) in patients with liver cirrhosis. MethodsA retrospective analysis was performed for 93 patients with SPSS from Dezhou Hospital, Qilu Hospital of Shandong University, from January 2015 to January 2022, and the patients were followed up for 12 months with the onset of HRS as the observation endpoint. According to the presence or absence of HRS, the 93 patients with SPSS were divided into HRS group with 38 patients (40.86%) and non-HRS group with 55 patients (59.14%), and the two groups were compared in terms of clinical data, laboratory data, complication, and shunt diameter. Based on the maximum shunt vein diameter of 1.5 cm, the 93 patients with SPSS were divided into high shunt group with 52 patients (55.91%) and low shunt group with 41 patients (44.09%), and with the onset of HRS as the observation endpoint, the two groups were compared in terms of the incidence rate of HRS and survival time curve. The independent-samples t test was used for comparison of normally distributed continuous data with homogeneity of variance between two groups, and the chi-square test was used for comparison of categorical data between two groups. The receiver operating characteristic (ROC) curve was used to predict cut-off values, the Kaplan-Meier curve was used for comparison of survival time, and the Log-rank test was used to compare the differences in survival curves. The multivariate Cox regression analysis was used to investigate risk factors. ResultsCompared with the non-HRS group, the HRS group had significant increases in Child-Pugh score, Child-Pugh class, MELD score, serum creatinine, blood urea nitrogen, alanine aminotransferase, aspartate aminotransferase, maximum shunt vein diameter, the incidence rates of hepatic encephalopathy and spontaneous bacterial peritonitis, and the degree of ascites, as well as significant reductions in main portal vein diameter, serum sodium and albumin (all P<0.05). Compared with the low shunt group, the high shunt group had a significant increase in the incidence rate of HRS (51.92% vs 26.83%, χ²=5.974, P=0.015) and a significant reduction in the time to the onset of HRS (Log-rank P=0.033). A maximum shunt vein diameter of >1.5 cm (hazard ratio [HR]=1.123, 95% confidence interval [CI]: 1.041 — 1.211, P=0.003), an increase in MELD score (HR=1.205, 95%CI: 1.076 — 1.437, P=0.039), a reduction in serum albumin (HR=0.890, 95%CI: 0.814 — 0.974, P=0.011), an increase in the degree of ascites (HR=2.099, 95%CI: 1.066 — 4.130, P=0.032), and spontaneous bacterial peritonitis (HR=2.259, 95%CI: 1.020 — 5.003, P=0.045) were independent risk factors for the onset of HRS in SPSS patients. ConclusionThere is an association between SPSS and HRS, and shunt diameter >1.5 cm was an independent risk factor for HRS in SPSS patients, which should be taken seriously and require early intervention in clinical practice.
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Objective:To investigate the characteristics of resting energy expenditure (REE) in children with cerebral palsy (CP) graded with different levels of Gross Motor Function Classification System (GMFCS), and to evaluate the accuracy and association of commonly used REE prediction formulas in children with CP.Methods:It was a retrospective study involving 36 children with CP aged 24-144 months who visited the Third Affiliated Hospital of Zhengzhou University between September 2021 and August 2022.REE was measured by the indirect calorimetry.Based on the GMFCS, children with CP were divided into grade Ⅰ-Ⅱ group (20 cases), grade Ⅲ group (6 cases) and grade Ⅳ-Ⅴ group(10 cases). During the same period, 11 age-matched healthy children were included in control group.The measured REE (MREE) between children with CP and healthy controls was compared.Predicted REE (PREE) calculated by the Harris-Benedict, WHO, Schofield-W, Schofield-WH and Oxford prediction formulas were compared with MREE in children for their consistency and correlation.Independent samples were analyzed using t-test or Mann- Whitney U test, and categorical data were analyzed using Chi- square test.Using paired t-test and Pearson linear correlation analysis to analyze the correlation between MREE and PREE.The accuracy of PREE values calculated by different formulas was assessed using the root mean square error. Results:The MREE in control group and children with CP were (952.18±270.56) kcal/d and (801.81±201.89) kcal/d, respectively.There was no significant difference in the MREE between grade Ⅰ-Ⅱ group versus control group[(868.30±194.81) kcal/d vs.(952.18±270.56) kcal/d, P>0.05], and grade Ⅲ group versus control group [(813.17±192.48) kcal/d vs.(952.18±270.56) kcal/d, P>0.05]. The MREE was significantly lower in grade Ⅳ-Ⅴ group than that of control group [666.00(513.50, 775.50) kcal/d vs.(952.18±270.56) kcal/d, P=0.011]. There were no significant difference between MREE and PREEs calculated by Harris-Benedict, WHO, Schofield-W, Schofield-WH, and Oxford (all P>0.05). The correct classification fraction calculated by the 5 formulas were 33.3%, 47.2%, 41.7%, 47.2%, and 41.7%, respectively.The r values of the consistency of PREE calculated by the 5 formulas were 0.585, 0.700, 0.703, 0.712, and 0.701, respectively.The Blande-Altman Limits of Agreement were (-297.77, 359.22), (-245.60, 326.94), (-250.62, 316.05), (-242.22, 177.36) and (-241.28, 325.81), respectively.The clinically acceptable range was -80.18 to 80.18 kcal/d.The root mean square error were 168.09 kcal/d, 149.64 kcal/d, 146.24 kcal/d, 144.23 kcal/d and 148.77 kcal/d, respectively. Conclusions:The MREE values decreased significantly in children with CP classified as CMFCS grade Ⅳ and Ⅴ.When REE cannot be regularly monitored by indirect calorimetry to develop nutritional support programs, children with CP may be prioritized to estimate REE using the prediction formula of Schofield-WH.
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OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).@*METHODS@#A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites.@*RESULTS@#The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3).@*CONCLUSION@#The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.
Subject(s)
Female , Humans , Infant , Cytochrome P450 Family 2/genetics , Mutation , Pedigree , Phenotype , Spastic Paraplegia, Hereditary/geneticsABSTRACT
OBJECTIVE@#To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.@*METHODS@#A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).@*CONCLUSION@#The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Subject(s)
Humans , Child , Female , Intellectual Disability/genetics , Hearing Loss, Sensorineural/genetics , Ataxia , Genetic Diseases, X-Linked , MutationABSTRACT
Objective:To observe the clinical efficacy and side effects of injecting different doses of botulinum toxin type A (BTX-A) into children with spastic cerebral palsy (CP) and tiptoe deformity.Methods:A total of 107 children with tiptoe deformity resulting from CP were divided into group A ( n=35), group B ( n=36) and group C ( n=36) using a random number table. Group A received 3u/kg injections of BTX-A, group B received 4u/kg injections and group C received 5u/kg. The injections were guided by color Doppler ultrasound and followed by 4 courses of rehabilitation therapy. Before and 1, 3 and 6 months after the treatment, the modified Tardieu scale (MTS) was used to assess gastrocnemius spasms, while sections D and E of gross motor function scale 88 (GMFM-88) and the pediatric balance scale (PBS) were used to evaluate motor functioning and balance. Any side effects were also observed. Results:After the treatment, improvement was observed in all of the measurements, though there were no significant differences in the degree of improvement nor in the incidence of side effects among the three groups.Conclusions:There is no significant difference in clinical efficacy or side effects involved in using different doses of BTX-A to treat tiptoe deformity in children with spastic cerebral palsy. The recommended dosage is therefore 3u/kg.
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Objective:To observe the clinical efficacy and any side effects of using ultrasound-guided injection of botulinum toxin A in treating juvenile sialorrhoea.Methods:Forty children with sialorrhoea were randomly divided into group A and group B, each of 20. Under the guidance of color Doppler ultrasound, botulinum toxin type A (BoNT-A) was injected into the children′s 2 parotid glands and their submandibular glands. Each parotid gland was injected with 20u of BoNT-A, while 10u was injected into the submandibular gland in group A and 20u was injected in group B. Before and 2, 8 and 12 weeks after the injections, the children′s sialorrhoea was evaluated using teacher drooling sizing (TDS), the drooling quotient and the Saxon test (ST). Any side-effects were also observed.Results:There was no significant difference in the average TDS score, drooling quotient or ST score between the two groups before the intervention. After the intervention all of those measurements had decreased significantly, but there were still no significant differences between the two groups in any measurement at any time point.Conclusions:Botulinum toxin type A injection under the guidance of ultrasound is accurate and safe. The injection of 10u is sufficient to relieve children′s sialorrhoea without serious side effects.
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OBJECTIVE:To evaluate the effectiveness and safety of repaglinide combined with metformin versus glimepiride combined with metformin in the treatment of type 2 diabetes mellitus (T2DM),and to provide evidence-based reference for the clinic. METHODS:Retrieved from CJFD, VIP, Wanfang database, PubMed, Embase, Medline and Cochrane Library, randomized controlled trials (RCTs) about therapeutic efficacy (HbA1c, FPG, 2 hPG) and safety (the incidence of ADR,hypoglycemia and gastrointestinal reaction)of repaglinide combined with metformin(trial group)versus glimepiride combined with metformin(control group)in the treatment of T2DM were collected. Meta-analysis was performed by using Rev Man 5.2 statistical software after data extraction and quality evaluation with Cochrane systematic evaluation manual. RESULTS:A total of 12 RCTs were included,involving 957 patients. Results of Meta-analysis showed that the decrease of 2 hPG in trial group was significantly better than control group,with statistical significance [MD=-0.70,95%CI(-1.02,-0.38),P<0.001]. There was no statistical significance in the decrease of HbA1c [MD=0.00,95%CI(-0.24,0.25),P=0.98] or FPG [MD=0.10,95%CI(-0.17,0.36),P=0.47],the incidence of ADR [OR=0.54,95%CI(0.28,1.06),P=0.07],hypoglycemia [OR=0.52,95%CI(0.13,2.06),P=0.35] or gastrointestinal reactions [OR=0.60,95%CI(0.15,2.41),P=0.47] between 2 groups. CONCLUSIONS:Repaglinide combined with metformin is better than glimepiride combined with metformin in reducing 2 hPG,but both of them have similar safety.
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Objective To explore the clinical value of the combination of procalcitonin (PCT) and hypersensitive C-reactive protein (hs-CRP) detection for the assessment of bacterial pneumonia.Methods Fifty bacterial pneumonia patients were randomly selected and included into the observation group,another fifty healthy subjects were selected as the control group in the same period.The levels of hs-CRP and PCT in the two groups were detected,and the detection results were comparatively analyzed.Results The PCT level [(3.13 ± 0.43) μg/L] and hs-CRP level[(55.37 ± 9.64)mg/L] in the observation group before treatment were significantly higher than those in the control group [PCT level (0.04 ± 0.01)μg/L,hs-CRP level (6.46 ± 0.89)mg/L],and the differences were statistically significant (t =50.7993,36.3980,all P <0.05).There were no significant differences in the PCT and hs -CRP levels between the two groups after treatment (t =0.5000,0.9444,all P > 0.05).The PCT level (3.11 ±0.85) μg/L and hs-CRP level (20.31 ± 3.96) mg/L in the patients with CURB-65 score of 4-5 were significantly higher than those in patients with CURB-65 score of 0-1 and 2-3 [PCT level (1.19 ± 0.42) μg/L and hs-CRP level (1.86 ± 0.53) mg/L in patients with CURB-65 score of 0-1,PCT level (1.82 ± 0.54) μg/L and hs-CRP level (9.85 ± 1.21)mg/L in patients with CURB-65 score of 2-3],and the differences were statistically significant (t =8.3565,5.0788,20.8283,10.9947,all P < 0.05).Conclusion The levels of serum PCT and hs-CRP are significantly increased in the patients with bacterial pneumonia,but the levels are decreased significantly after treatment.The combination of hs-CRP and PCT detection has significant value for the assessment of bacterial pneumonia,which is helpful to evaluate the condition of the disease,and has great clinical significance.
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Objective To study the expression of hypoxia-inducible factor-1a(HIF-1α) at mRNA and protein levels in the early stage of hypoxic-ischemic brain damage (HIBD) in neonatal rats and its role.Methods (1) Experiment 1:thirty-six postnatal 7-day SD rats were divided into Sham group (n =6) and model group (HIBD,n =30) according to the random table method,then the rats in the model group were divided into 5 subgroups according to the time of sacrifice after HIBD(6 h,12 h,24 h,48 h,72 h,n =6).The expression levels of HIF-1cα mRNA and protein were detected by quantitative Real-time PCR(qPCR) and Western blot,respectively.(2) Experiment 2:forty-five postnatal 7-day SD rats were randomized into 3 groups:Sham group (n =15),HIBD group (n =15) and 2-methoxyestradiol(2ME2) group(n =15).According to the experiment 1,at the time point of the highest expression levels of HIF-1 α mRNA and protein,rats were killed and the brains were collected.The location and expression of HIF-1 α protein were detected by immunofluorescence,histopathological changes of brain were observed by HE staining,brain water content was measured by dry-wet method,cell apoptosis was detected by nick end labeling(TUNEL) method.Results At the early stage of HIBD,the expression levels of HIF-1 α mRNA and protein increased at first and then decreased,and the mRNA expression level (3.38 ± 0.21) and protein expression level (2.81 ± 0.36) were the highest at 24 h after HIBD.In Sham group,HIF-1 α protein was mainly expressed in the cytoplasm,while in HIBD group it was mainly expressed in the nucleus.The number of HIF-1α staining positive cells,brain water content and apoptosis rate were significantly different among Sham group,HIBD group and 2ME2 group (all P < 0.05),and which were significantly lower in 2ME2 group than those in HIBD group (all P < 0.05),and the pathological changes were also less serious than those in HIBD group.Conclusions The mRNA and protein levels of HIF-1 α are the highest at 24 h after HIBD.Inhibiting the expression of HIF-1 α can ameliorate the brain damage of neonatal rats induced by hypoxia-ischemia.Therefore,it is hypothesized that HIF-1α may cause injury in the early stage of HIBD in neonatal rats.
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Objective To study the expression of hypoxia-inducible factor-1a(HIF-1α) at mRNA and protein levels in the early stage of hypoxic-ischemic brain damage (HIBD) in neonatal rats and its role.Methods (1) Experiment 1:thirty-six postnatal 7-day SD rats were divided into Sham group (n =6) and model group (HIBD,n =30) according to the random table method,then the rats in the model group were divided into 5 subgroups according to the time of sacrifice after HIBD(6 h,12 h,24 h,48 h,72 h,n =6).The expression levels of HIF-1cα mRNA and protein were detected by quantitative Real-time PCR(qPCR) and Western blot,respectively.(2) Experiment 2:forty-five postnatal 7-day SD rats were randomized into 3 groups:Sham group (n =15),HIBD group (n =15) and 2-methoxyestradiol(2ME2) group(n =15).According to the experiment 1,at the time point of the highest expression levels of HIF-1 α mRNA and protein,rats were killed and the brains were collected.The location and expression of HIF-1 α protein were detected by immunofluorescence,histopathological changes of brain were observed by HE staining,brain water content was measured by dry-wet method,cell apoptosis was detected by nick end labeling(TUNEL) method.Results At the early stage of HIBD,the expression levels of HIF-1 α mRNA and protein increased at first and then decreased,and the mRNA expression level (3.38 ± 0.21) and protein expression level (2.81 ± 0.36) were the highest at 24 h after HIBD.In Sham group,HIF-1 α protein was mainly expressed in the cytoplasm,while in HIBD group it was mainly expressed in the nucleus.The number of HIF-1α staining positive cells,brain water content and apoptosis rate were significantly different among Sham group,HIBD group and 2ME2 group (all P < 0.05),and which were significantly lower in 2ME2 group than those in HIBD group (all P < 0.05),and the pathological changes were also less serious than those in HIBD group.Conclusions The mRNA and protein levels of HIF-1 α are the highest at 24 h after HIBD.Inhibiting the expression of HIF-1 α can ameliorate the brain damage of neonatal rats induced by hypoxia-ischemia.Therefore,it is hypothesized that HIF-1α may cause injury in the early stage of HIBD in neonatal rats.
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Refractory childhood epilepsy refers to those cases with dififcult control of epileptic attacks after at least two formal anticonvulsants treatment. Recently, ketogenic diet (KD), a high-fat, low-carbohydrate and adequate-protein diet, becomes an important method for the treatment of refractory epilepsy in children. Before employing KD, children should be checked to exclude known metabolic diseases. Although the mechanism of KD treatment is not entirely clear, it has a certain clinical curative effect. Many factors inlfuence the curative effect of KD. Most of the adverse effects of KD treatment are transient and can be recovered through active prevention and handling, which gives a generally good prognosis.
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OBJECTIVE To understand the situation of application of antibacterials in perioperative period in Department of Orthopedics,in order to find evidence for strengthening the rational use and standard management of antibacterial.METHODS A total of 308 cases with orthopedic clean-operations were randomly selected for the analysis of rationality of application of antibiotic prophylaxis in perioperative period.RESULTS All of the 308 patients were given antibiotics in perioperative period.And 18 kinds of drugs from 7 categories were used,the average kinds used were(2.07?0.75).The patients started antibiotic administration within 0.5-2 hours before operation accounted for 84.74%.The average time of antibiotic using was(6.07?2.64) days.72.40% patients in medication period used more than one kind drugs.CONCLUSIONS There are some problems in application of antibacterials in orthopedic clean-operations during perioperative period,such as too long-term use of antibiotics,frequent changes and so on.It is necessary to strengthen the management and improve the rationality of application of antibacterials.