Objective:To analyze the genetic variant characteristics of primary immunodeficiency diseases (PID) in families from Henan Province.Methods:This study conducted a retrospective analysis of 19 PID pedigrees referred to the Prenatal Diagnosis Center at Henan Provincial People's Hospital between January 2016 and March 2024. Among the 19 families, 13 underwent prenatal diagnosis at our hospital, while the remaining six received genetic counseling based on third-party genetic testing reports (confirmed by our institution's laboratory). The clinical data from these families were analyzed, and descriptive statistical analysis was applied to the data.Results:Among the 19 PID families, there were seven cases of combined immunodeficiency, three immunodeficiency syndromes, three phagocyte deficiencies, three antibody-dominant immunodeficiencies, and three immunodysregulatory disorders, involving a total of 12 genes ( IL2RG, ADA, RAG2, STAT3, SMARCAL1, ATM, POLA1, CYBB, BTK, RAB27A, LRBA, IL10R). A total of 25 genetic variants were identified, including 11 novel variants not previously documented in the ClinVar and HGMD professional databases. The novel variants comprised: IL2RG gene mutations (Exon5_8del and c.903_904delinsCT leading to p.E302*), ADA gene mutation (c.884A>G resulting in p.D295G), RAG2 gene mutation (c.513dupA causing p.W172Mfs3), POLA1 gene mutation (c.25+5G>C), CYBB gene mutations (c.824G>A/p.G275D and c.472A>T/p.K158), BTK gene mutations (c.522_523insC/p.A175fs and c.142-2A>C), and RAB27A gene mutations (c.121delA/p.T41fs and c.272delA/p.D91fs). Among the 13 families undergoing prenatal diagnosis, genetic testing revealed that 11 fetuses carried wild-type genes, and these families elected to continue their pregnancies. One fetus exhibited identical genetic variants to the proband and received a clinical diagnosis consistent with the genetic disorder, while another fetus demonstrated chromosomal copy number variations. In both of these latter cases, the families opted for pregnancy termination. Conclusion:This study identified 11 unreported variants across seven genes, highlighting the need for further expansion of PID genetic variant databases.

To address the insufficiency of domestic small-dose Chinese herbal granule dispensing equipment,this study introduces the"black box method"design concept and,on this basis,designs a lightweight,compact and highly accurate dispensing device.This device uses a two-phase four-wire brushless motor to drive the slider for displacement,thereby controlling the volume of the medicine falling into the weighing device to complete the weighing of the medicine.Finally,a two-phase hybrid stepping motor is used to drive the weighing device to transfer the medicine.This paper first elaborates in detail on the mechanical structure and weighing dispensing principle of this device.Secondly,the ANSYS finite element software is used to conduct a force analysis test on the weighing device,and it is concluded that the deformation of the weighing device during the working process is 9.98×10-5 mm,and the maximum deformation of the discharge port is 6.65×10-5 mm.Finally,the ADAMS software is used to simulate and analyze the motion process of the mechanism.The results show that,under the premise of ensuring the accuracy of weighing,there are no virtual points or interference in the motion process.On this basis,a prototype test is conducted,and the error accuracy of the dispensing machine is about 0.066 g,which is higher than the traditional dispensing accuracy.This equipment has strong adaptability and high dispensing accuracy,providing a new solution for small-dose precise quantitative equipment.

To address the insufficiency of domestic small-dose Chinese herbal granule dispensing equipment,this study introduces the"black box method"design concept and,on this basis,designs a lightweight,compact and highly accurate dispensing device.This device uses a two-phase four-wire brushless motor to drive the slider for displacement,thereby controlling the volume of the medicine falling into the weighing device to complete the weighing of the medicine.Finally,a two-phase hybrid stepping motor is used to drive the weighing device to transfer the medicine.This paper first elaborates in detail on the mechanical structure and weighing dispensing principle of this device.Secondly,the ANSYS finite element software is used to conduct a force analysis test on the weighing device,and it is concluded that the deformation of the weighing device during the working process is 9.98×10-5 mm,and the maximum deformation of the discharge port is 6.65×10-5 mm.Finally,the ADAMS software is used to simulate and analyze the motion process of the mechanism.The results show that,under the premise of ensuring the accuracy of weighing,there are no virtual points or interference in the motion process.On this basis,a prototype test is conducted,and the error accuracy of the dispensing machine is about 0.066 g,which is higher than the traditional dispensing accuracy.This equipment has strong adaptability and high dispensing accuracy,providing a new solution for small-dose precise quantitative equipment.

Objective:To analyze the genetic variant characteristics of primary immunodeficiency diseases (PID) in families from Henan Province.Methods:This study conducted a retrospective analysis of 19 PID pedigrees referred to the Prenatal Diagnosis Center at Henan Provincial People's Hospital between January 2016 and March 2024. Among the 19 families, 13 underwent prenatal diagnosis at our hospital, while the remaining six received genetic counseling based on third-party genetic testing reports (confirmed by our institution's laboratory). The clinical data from these families were analyzed, and descriptive statistical analysis was applied to the data.Results:Among the 19 PID families, there were seven cases of combined immunodeficiency, three immunodeficiency syndromes, three phagocyte deficiencies, three antibody-dominant immunodeficiencies, and three immunodysregulatory disorders, involving a total of 12 genes ( IL2RG, ADA, RAG2, STAT3, SMARCAL1, ATM, POLA1, CYBB, BTK, RAB27A, LRBA, IL10R). A total of 25 genetic variants were identified, including 11 novel variants not previously documented in the ClinVar and HGMD professional databases. The novel variants comprised: IL2RG gene mutations (Exon5_8del and c.903_904delinsCT leading to p.E302*), ADA gene mutation (c.884A>G resulting in p.D295G), RAG2 gene mutation (c.513dupA causing p.W172Mfs3), POLA1 gene mutation (c.25+5G>C), CYBB gene mutations (c.824G>A/p.G275D and c.472A>T/p.K158), BTK gene mutations (c.522_523insC/p.A175fs and c.142-2A>C), and RAB27A gene mutations (c.121delA/p.T41fs and c.272delA/p.D91fs). Among the 13 families undergoing prenatal diagnosis, genetic testing revealed that 11 fetuses carried wild-type genes, and these families elected to continue their pregnancies. One fetus exhibited identical genetic variants to the proband and received a clinical diagnosis consistent with the genetic disorder, while another fetus demonstrated chromosomal copy number variations. In both of these latter cases, the families opted for pregnancy termination. Conclusion:This study identified 11 unreported variants across seven genes, highlighting the need for further expansion of PID genetic variant databases.

A blood pressure measurement system based on internet of things and deep learning is proposed for continuous data acquisition and blood pressure prediction.The system adopts a hybrid neural network structure for processing the collected data and accurately predicting blood pressure,and the model consists of ResNet18,GRU and 3 fully connected layers.The data of 82 individuals are collected for training and testing.The mean absolute errors and standard deviations are 2.16 mmHg and 3.09 mmHg for diastolic blood pressure,3.15 mmHg and 5.14 mmHg for systolic blood pressure,according with AAMI standard and BHS standard.

Objective:To prepare mesalazineβ-cyclodextrin inclusion compound and observe its properties. Methods:The struc-ture was characterized by UV, IR and DSC. The inclusion process of mesalazine andβ-cyclodextrin was simulated using molecular doc-king technique. The solubility and dissolution of inclusion compound were determined. Results:UV, IR and DSC were used to deter-mine the formation of inclusion complex. The inclusion ratio was 1: 1 and the phase solubility diagram was AL type. The solubility of inclusion compound in deionized water (25 ℃, pH 7. 0) was 7. 8 mg·ml-1 . The preparation of mesalazine β-cyclodextrin inclusion compound could significantly increase the dissolution rate and solubility of mesalazine. Conclusion:The prepared mesalazineβ-cyclo-dextrin inclusion compound can obviously improve the poor water solubility and dissolution of mesalazine.

Sixty patients who had hemodialysis over half year were randomly divided into 3 groups with 20 cases in each group:group A received conventional hemodialysis,group B received hemodialysis with oral administration of compound danshen (salvia miltiorrhiza bunge) tablets and vitamin E,group C had the same treatment as group B but the dialyzer was pretreated with solution containing 5 g vitamin C ; 20 healthy adults served as normal controls. Serum levels of advanced oxidation protein products (AOPP) and superoxide dismutase (SOD) were measured in all groups.The levels of AOPP in groups A,B,C were higher and SOD levels were lower than those of normal controls ( all P ＜ 0.01 ).The levels of AOPP in groups B,C were lower and SOD were higher than those in group A at the same time points (P ＜0.01 ).The levels of AOPP in group C were lower and SOD were higher than those in group B at the same time points (P ＜0.0l ).The results suggest that pretreatment of the dialyzer with high dose vitamin C plus vitamin E and compound danshen tablets can alleviate oxidative stress in patients with maintaining hemodialysis.