Objective:Four cases with NLRP3-related autoinflammatory diseases were reported to summarize the clinical characteristics, genotype, and treatment responses of the disease, and to improve clinical pediatricians' understanding of the disease.Methods:A retrospective analysis was performed on 4 cases with NLRP3-related autoinflammatory diseases diagnosed in Children's Hospital of Anhui Province in 2016—2021, and the clinical features and treatment progress of NLRP3-related autoinflammatory diseases were retrospectively analyzed based on the clinical features, gene reports, and literature review.Results:① All 4 cases were male. Cases 1, 2, and 3 had the disease onset after birth, and case 4 had the disease onset 6 months after birth. All showed periodic fever, repeated urticaria-like rash, protruding forehead, and saddle nose. White blood cells count, erythrocyte sedimentation rate, and C-reactive protein were increased during the attack period, and those in the interval period were normal, and antibiotic treatment was ineffective. ② The genetic test of all these 4 children showed NLRP3 mutation. Children 1, 2, and 3 were heterozygous mutations, and their parents were wild-type. The mutation was located at chromosome Chr1: 247587658, exon c913 (exon3). G>A, the 305th aspartic acid (Asp) of the protein was changed to asparagine (Asn) in child 1. The mutation was located at the chromosomal Chr1: 247588072, the nucleic acid was changed to c1327(exon3)T>C, and the amino acid was changed to p.Y443H in cases 2 and 3. Somatic heterozygous mutation was found in case 4, and the child's parents were wild-type. In this case, the mutation was located at chromosomal Chr1: 247587658, exon3 G>A, and the 305th Asp of the protein was changed to Asn. ③Children in cases 1, 2, and 3 were treated with glucocorticoids and non-steroidal anti-inflammatory drugs at the initial stage, but the effects were limited. After receiving IL-1 antagonist treatment fever, skin rash, joint swelling and pain disappeared, and the inflammatory indexes were returned to normal. The child 4 received non-steroidal anti-inflammatory drugs and methotrexate, but he failed to respond to the treatment. Treatment with tocilizumab was not effective, however, fever, skin rash, or joint pain disappeared after treated with Khanna.Conclusion:①NLRP3-related autoinflammatory diseases can cause periodic fever, urticaria, joint involvement, and severe involvement of the central nervous system and organ amyloidosis. Which are early misdiagnosis is prone to systemic juvenile idiopathic arthritis. ②The disease was an inflammatory disease mediated by interleukin-1. At present, non-steroidal anti-inflammatory drug, glucocorticoid and chronic anti-rheumatic drugs have limited effects. IL-1 antagonists are effective and safe in the treatment of the disease.

Objective To investigate the risk factors for intraoperative hypotension (IOH) in patients undergoing double plasma molecular adsorption system (DPMAS) artificial liver support therapy. Methods Clinical data were collected from 181 patients (670 cases in total) who underwent DPMAS artificial liver support therapy in Liver Disease Center of The First Affiliated Hospital of University of Science and Technology of China from October 1, 2017 to December 31, 2020, and according to the presence or absence of IOH during DPMAS therapy, they were divided into IOH group with 70 patients and non-IOH group with 111 patients.Clinical indicators were compared between the two groups and their association with IOH was analyzed; prognosis was analyzed at 12 and 24 weeks.The independent samples t -test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups; the chi-square test was used for comparison of categorical data between groups.Univariate and multivariate Logistic regression analyses were used to investigate the risk factors for IOH.The Kaplan-Meier method was used to plot receiver operating characteristic (ROC) curves, and the Z test was used for comparison of the area under the ROC curve (AUC) of independent risk factors. Results The univariate Logistic regression analysis showed that female individuals, individuals aged ≥50 years, and individuals with normal or low body mass index (BMI) tended to have a higher risk of IOH (all P < 0.05), and the multivariate analysis showed that normal or low BMI (odds ratio [ OR ]=3.290, 95% confidence interval [ CI ]: 1.523-7.108, P =0.002) and female sex ( OR =5.146, 95% CI : 2.316-11.432, P < 0.001) were independent risk factor for IOH in patients undergoing DPMAS artificial liver support therapy.The ROC curve analysis of female sex+BMI ≤24 kg/m 2 showed that it had an AUC of 0.639 in predicting IOH ( P =0.002).The patients experiencing IOH had a 12-week survival rate of 55.77%(29/52) and a 24-week survival rate of 50%(26/52), and there were significant differences between the two groups in 12-and 24-week survival rates (12-week: 76.53% vs 55.77%, χ 2 =6.887, P =0.009;24-week: 74.49% vs 50.00%, χ 2 =9.080, P =0.003). Conclusion The risk of hypotension was higher in female patients and that with normal or low BMI during DPMAS artificial liver therapy.Patients with IOH had poor survival prognosis at 24 weeks after DPMAS therapy.

OBJECTIVE: To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD). METHODS: The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype. RESULTS: Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively. CONCLUSION The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing ; Humans ; Nucleotidyltransferases

Objective To observe the 24-week survival status of patients with hepatitis B virus-related acute-on-chronic liver failure (HBV-ACLF) treated with plasma exchange (PE) and double plasma molecular adsorption system (DPMAS) alone or in combination, and to establish a predictive model for 24-week prognosis. Methods Related clinical data were collected from 133 patients with HBV-ACLF who received PE and DPMAS alone or in combination in The Affiliated Provincial Hospital of Anhui Medical University from January 2015 to December 2019, and according to the survival status at the 24-week follow-up after treatment, they were divided into survival group with 71 patients and death group with 62 patients. A total of 55 patients with HBV-ACLF who received PE and DPMAS alone or in combination in The Second Affiliated Hospital of Anhui Medical University from January 2018 to January 2020 were enrolled as validation group to validate the performance of the model. Related clinical data included mode of artificial liver support therapy, age, sex, total bilirubin (TBil), international normalized ratio (INR), creatinine (Cr), serum sodium, platelet count (PLT), albumin (Alb), and presence or absence of ascites, hepatorenal syndrome, hepatic encephalopathy, and gastrointestinal bleeding. The t -test was used for comparison of normally distributed continuous data between two groups, and the Wilcoxon rank-sum test was used for comparison of continuous data with skewed distribution between two groups; the chi-square test and the Fisher's exact test were used for comparison of categorical data between groups. The Cox regression model was used to analyze the influencing factors for the prognosis of HBV-ACLF patients after PE and DPMAS alone or in combination and establish a predictive model; the receiver operator characteristic (ROC) curve was plotted and the DeLong method was used to compare the area under the ROC curve (AUC) between the new predictive model and Model for End-Stage Liver Disease (MELD)/MELD combined with serum sodium concentration (MELD-Na) scores. Results At 24 weeks after treatment, 71 patients survived and 62 patients died in the modeling group. The Cox regression analysis showed age (hazard ratio [ HR ]=1.030, P =0.013), TBil ( HR =1.018, P < 0.001), INR ( HR =1.517, P < 0.001), and PLT ( HR =0.993, P =0.04) were independent influencing factors for 24-week survival. According to the results of the Cox regression analysis, a prognostic model for HBV-ACLF patients treated with PE and DPMAS alone or in combination was established as ATIP=0.029×age (years)+0.018×TBil (mg/dL)+0.417×INR-0.007×PLT (10 9 /L). Both the modeling group and the validation group showed that the ATIP model had a better predictive performance than MELD and MELD-NA scores(all P < 0.05). Conclusion Age, TBil, INR, and PLT are independent influencing factors for the 24-week survival of HBV-ACLF patients treated with PE and DPMAS alone or in combination, and the ATIP model has a good performance in predicting the 24-week prognosis of HBV-ACLF patients treated with PE and DPMAS alone or in combination.

Objective:To investigate the diagnostic value of frame stereotactic biopsy in patients with small solid tumors in the suprasellar region.Methods:From April 2018 to December 2020, 42 patients with solid tumors in the suprasellar region were selected in our hospital. All patients underwent frame stereotactic biopsy under multimodal image guidance. The imaging characteristics, histological and pathological diagnosis rate, and incidence of biopsy complications of these patients were analyzedResults:(1) CT examination showed that the suprasellar cistern lesions were lumpy and well defined; 41 had high/slightly high density and 1 had calcification. MRI examination showed that the lesions were also lumpy and the signal was relatively uniform; enhanced images showed that 3 patients had "salt and pepper sign"; Magnetic Resonance Spectrum showed that 2 had typical huge Lip composite peak. (2) All 42 patients underwent frame stereotactic biopsy successfully, and 35 patients (83.3%) were pathologically diagnosed, including 24 with germinoma (GE), one with embryonal carcinoma, 6 with Langerhans histiocytosis (LCH), 2 with hair-cell astrocytoma, and 2 with diffuse large B-cell lymphoma. Postoperative head CT showed that two were with micro-hemorrhage in the operation area, and the rest showed no signs of hemorrhage. No significant changes were observed in the clinical manifestations before and after surgery.Conclusion:Frame-based stereotactic biopsy is safe and reliable, with few surgical complications and high diagnosis rate in small solid tumors in the suprasellar region.

Objective:To test the effectiveness of electrical stimulation of the median nerve (MNES) for relieving post-stroke cognitive impairment (PSCI) and explore the possible mechanism.Methods:Thirty patients with PSCI were randomly divided into a routine treatment group (the control group) and an MNES group, each of 15. Both groups were given routine rehabilitation treatment, including cognitive rehabilitation training, medications and acupuncture. The MNES group additionally received 30 minutes of MNES on their right hands every day, five times a week for six weeks. One electrode was positioned over the median nerve 2cm up from the rasceta of the right wrist. The other was on the muscles of the thenar eminence. Forty seconds of stimulation were applied with intervals of 20 seconds, for 30 min daily. Before and after 3 and 6 weeks of treatment, both groups were evaluated using the mini-mental state examination (MMSE), the Montreal cognitive assessment (MoCA), the modified Barthel index (MBI) and the Fugl-Meyer assessment (FMA). In another 15 patients oxyhemoglobin levels in the brain before and during the MNES were observed using near-infrared spectroscopy.Results:After 3 weeks of treatment, a significant improvement was observed in the average MMSE, FMA and MBI scores of both groups, and the average MoCA score of the observation group. Three weeks later, the average MMSE, FMA, MBI and MoCA scores of both groups had improved significantly compared with before the treatment, with the average MMSE and MoCA improvements in the MNES group significantly greater than the control group′s averages. After 6 weeks of treatment the significant improvements persisted in both groups. Both group′s average FMA scores had also improved significantly, as had the average MBI score of the control group. After 6 weeks of treatment, the observation group′s average time orientation, location orientation, language instant memory, attention, calculation and short-term memory in MMSE had all improved significantly along with visual space capacity, executive capacity, attention, language, orientation and memory in MoCA. The spectroscopic results showed significantly improved oxyhemoglobin concentration in the bilateral frontal lobes after the MNES.Conclusions:Electrical stimulation of the median nerve can help to improve cognition after a stroke. It increases oxyhemoglobin concentration in the bilateral frontal lobes.

Objective:To explore the effect and safety of the improved treatment of severe neonate hyperbilirubinemia by the automatic and synchronous exchange transfusion of peripheral artery and vein.Methods:From January 2016 to December 2019, 25 newborns with severe hyperbilirubinemia treated by automatic and synchronous exchange transfusion of peripheral artery and vein were selected in the research.During the operation of exchange transfusion, there were two pathways, the bloodletting one through the arteries and the transfusion one through the veins [the latter was connected to the blood-conveying leather pipeline special for Graseby 3000 syringe pump by the indwelling needle.The filter of the leather pipeline is Y-shaped and had two parallel blood transfusion plugs, one inserted into the red blood cell(RBC) bag, and the other into plasma bag.After infusion of 100 mL of RBC, clamped the RBC bag, and infused 500 mL of plasma.Then clamped the plasma bag and infused 100 mL of RBC.They were alternately operated]. The artery and the vein form a blood circuit, which was controlled by three infusion pumps (the first pump was for bloodletting, the second for transfusion, and the third for heparin sodium infusion). Hence the exchange transfusion became full-automatic.The changes of blood routine, total blood bilirubin(TBIL), blood gas analysis, blood glucose, electrolytes, blood culture and vital signs before and after transfusion were observed.Results:A total of 25 patients were studied, and the exchange transfusion time was controlled between 90-120 minutes.After transfusion, there were no statistically significant changes in breathing, heart rate, blood pressure, electrolytes and blood gas analysis(all P>0.05), while the serum TBIL and platelets(PLT) levels were significantly decreased[the amount of TBIL before and after blood transfusion: (485.8±126.5)μmol/L vs.(207.9±68.4)μmol/L; the amount of PLT before and after blood transfusion: (301.6±118.3)×10 9/L vs.(125.3±60.2)×10 9/L] ( t=-6.924, P<0.01; t=-7.986, P<0.01), and white the blood cells(WBC) was decreased [before blood transfusion: (12.57±6.11)×10 9/L, after blood transfusion: (8.98±3.24)×10 9/L, t=-2.922, P<0.05]. The trace blood glucose(TBG) was higher than normal after blood transfusion, with a significant change[before blood transfusion: (4.9±0.7)mmol/L, after blood transfusion: (7.1±1.5)mmol/L, t=3.866, P<0.01]. TBG restored within 24 h after exchange transfusion, PLT and WBC backed to normal within 72 h. Blood bacterial culture was negative in all cases after the exchange transfusion.No serious complications occurred and all patients were cured. Conclusion:It is simple, safe and reliable to treat severe neonate hyperbilirubinemia by the peripheral automatic exchange transfusion controlled by infusion pumps.The treatment is worthwhile to be recommended for clinical use in primary hospitals.

To evaluate the reliability and accuracy of MRI-guided stereotactic biopsy for supratentorial brain lesions. Method: A total of 103 cases of MRI-guided biopsy were performed between November 2009 and December 2013. Patients' pathological results and postoperative rehabilitation courses were analyzed. Results: A total of 102 patients (99.0%) had pathological results, of which 97 cases were brain tumors (86.0%), including 36 cases of astrocytoma, 9 cases of anaplastic astrocytoma, 10 cases of oligoastrocytoma, 4 cases of anaplastic oligoastrocytoma, 4 cases of anaplastic ligodendroglioma, 3 cases of glioblastoma multiforme, 27 cases of lymphoma, 3 cases of germcell tumors, and 1 case of rhabdomyosarcoma. Inflammatory lesions were found in 3 cases (2.9%). Displacement of brain gray matter was reported in 2 cases (2.0%), and 1 case (1.0%) of cerebral infarction existed. A total of 3 patients suffered intracranial hematoma after biopsy, and 1 patient underwent craniotomy to remove the hematoma. No death or intracranial inflammation occurred after biopsy.Conclusion: MRI-guided stereotactic biopsy is a safe and reliable method in qualitative diagnosis. It is a very important tool for diagnosis and treatment selection for intracranial lesions.

Objective To explore which operation and the accuracy of the detection method is better by exploring the correlation among three bilirubin detection methods.Methods 50 hospitalized neonates within 7 days after birth with visual jaundice were randomly selected.The total serum bilirubin level was measured by the routine laboratory method.At the same time,the serum bilirubin level was measured by bilirubin analyzer for capillary blood and transcutaneous bilirubin(TcB) measurement,then calculated the linear correlation coefficient of TcB level and TSB level,capillary blood bilirubin level and TSB level respectively to analyze their statistical significance,and get the linear regression model at last.Results Close correlation is existed between the capillary blood bilirubin measurement and the routine laboratory method,also the transcutaneous bilirubin measurement and the routine laboratory method.Moreover,the former is better than the later.Conclusion Capillary blood bilirubin is reliable in measuring serum bilirubin level of newborns.

Objective To set up the clinical examination method for 1p loss of heterozygosity (LOH).Methods Genomic DNA was isolated from tumor tissue and peripheral blood in oligodendroglioma patients. Denaturing high performance liquid chromatography (DHPLC) was used to examine the polymerase chain reaction (PCR) Results . 1p LOH was determined by the microsatellite sites.Results 1p LOH was identified by DHPLC Results .Conclusion DHPLC can clearly identify the 1p LOH with short time in oligodendroglioma patients.