Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.
Adult ; Humans ; Adolescent ; Imatinib Mesylate/adverse effects* ; Incidence ; Antineoplastic Agents/adverse effects* ; Retrospective Studies ; Pyrimidines/adverse effects* ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy* ; Treatment Outcome ; Benzamides/adverse effects* ; Leukemia, Myeloid, Chronic-Phase/drug therapy* ; Aminopyridines/therapeutic use* ; Protein Kinase Inhibitors/therapeutic use*

Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.
Angioedemas, Hereditary/genetics* ; Asian People ; Female ; Humans ; Male ; Mutation ; Pedigree ; Retrospective Studies

The chemical constituents from the branches and leaves of Artocarpus incisus were isolated and purified via silica gel, ODS, and Sephadex LH-20 column chromatography as well as preparative HPLC. The chemical structures of all isolated compounds were identified in the light of their physicochemical properties, spectroscopic analyses, and comparisons of their physicochemical and spectroscopic data with the reported data in literature. As a result, 20 compounds were isolated and characterized from the 90% ethanol extract of the branches and leaves of A. incisus, which were identified as tephrosin(1), 6-hydroxy-6 a, 12 a-dehydrodeguelin(2), sarcolobin(3), lupiwighteone(4), 12-deoxo-12α-methoxyelliptone(5), 6 aα,12 aα-12 a-hydroxyelliptone(6), homopterocarpin(7), 3-hydroxy-8,9-dimethoxypterocarpan(8), pterocarpin(9), maackiain(10), medicarpin(11), calycosin(12), genistein(13), formononetin(14), 5-hydroxy-4',7-dimethoxy isoflavone(15), liquiritigenin(16), 4(15)-eudesmene-1β,7α-diol(17), ent-4(15)-eudesmene-1β,6α-diol(18), 1α-hydroxyisodauc-4-en-15-al(19), and guaianediol(20). Except compounds 13 and 16, all other compounds were isolated from the Artocarpus plants for the first time. Additionally, using MTS assay, compounds 1-20 were eva-luated for their anti-rheumatoid arthritis activities by measuring their anti-proliferative effects on synoviocytes in vitro. As a consequence, compounds 1-16 showed notable anti-rheumatoid arthritis activities, which displayed inhibitory effects on the proliferation of MH7 A synovial fibroblast cells, with the IC_(50) values in range of(9.86±0.09)-(218.07±1.96) μmol·L~(-1).
Arthritis ; Artocarpus ; Cell Proliferation ; Ethanol ; Genistein ; Plant Extracts/pharmacology* ; Silica Gel ; Synoviocytes

Pathogenic bacterial infection is one of the main clinical symptoms. Antibiotics are widely used in clinical practice to inhibit or kill the bacteria， fungi and other pathogenic microorganisms. However， with the massive use of antibiotics， drug-resistant strains continue to appear that make the antibacterial situation is becoming increasingly severe. Due to the advantages of multiple targets， multiple pathways and multiple components， traditional Chinese medicine （TCM） have gradually attracted more attention and were used in antibacterial treatment. However， some antimicrobial TCM have problems such as low solubility， poor stability， and low bioavailability. Improving and enhancing the antibacterial activity of TCM through preparation technology is one of the effective solutions. Based on this， two aspects of unilateral antibacterial TCM preparation technology and combination antibacterial preparation technology are introduced， including inclusion technology， nanotechnology， electrospinning， 3D printing and others. Distinctive features and specific application effects of these preparation technologies are explained firstly， and then their advantages and disadvantages are compared and analyzed. The review can be a useful reference for improving the antibacterial activity of TCM.

Image registration is of great clinical importance in computer aided diagnosis and surgical planning of liver diseases. Deep learning-based registration methods endow liver computed tomography (CT) image registration with characteristics of real-time and high accuracy. However, existing methods in registering images with large displacement and deformation are faced with the challenge of the texture information variation of the registered image, resulting in subsequent erroneous image processing and clinical diagnosis. To this end, a novel unsupervised registration method based on the texture filtering is proposed in this paper to realize liver CT image registration. Firstly, the texture filtering algorithm based on L0 gradient minimization eliminates the texture information of liver surface in CT images, so that the registration process can only refer to the spatial structure information of two images for registration, thus solving the problem of texture variation. Then, we adopt the cascaded network to register images with large displacement and large deformation, and progressively align the fixed image with the moving one in the spatial structure. In addition, a new registration metric, the histogram correlation coefficient, is proposed to measure the degree of texture variation after registration. Experimental results show that our proposed method achieves high registration accuracy, effectively solves the problem of texture variation in the cascaded network, and improves the registration performance in terms of spatial structure correspondence and anti-folding capability. Therefore, our method helps to improve the performance of medical image registration, and make the registration safely and reliably applied in the computer-aided diagnosis and surgical planning of liver diseases.
Algorithms ; Humans ; Image Processing, Computer-Assisted ; Liver Diseases ; Tomography, X-Ray Computed

A new method for qualitative and quantitative analysis of Rhodobryum giganteum by using the nonlinear oscillating chemical was established for improving the quality control standard of R. giganteum. Its potential(E)/time(t) curve was recorded by electrochemical workstation in the oscillation reaction system of BrO~-_3-Ce(SO_4)_2-H_2SO_4-malonic acid/tartaric acid. The nonlinear oscillating chemical fingerprints were investigated for repeatability, and it was found that the RSD values of the four characteristic parameters of R. giganteum were less than 4.1%, indicating a good repeatability and high precision of this experiment. After optimizing the experimental parameters such as particle size, rotation speed and temperature, a new method based on nonlinear oscillating chemical was used for qualitative and quantitative analysis of R. giganteum. The results showed that there was a good linear relationship between the induction time/the period of oscillation and the dosage of herbs(0.1-1.1 g), with the relative coefficients of 0.978 and 0.975, respectively. Besides, the highest potential showed a nonlinear relationship with the dosage of herbs, with the relative coefficient of 0.999. This method was also used to discriminate the R. giganteum and R. roseum. They were similar in appearance, but their fingerprints were quite different. Independent sample t test results showed that there were significant differences in the oscillation time, the maximum amplitude and the induction time, providing a basis for the identification of the basic sources of Herba Rhodobryi Rasei.
Quality Control

OBJECTIVE: To select and define the clinical questions and outcomes of Guideline for the Emergency Treatment of Anaphylaxis. METHODS: A draft including clinical questions, which could be divided into foreground questions and background questions, and outcomes was drawn and revised by the secretary group for the guideline referring to the present guidelines with the guidance of a panel consisting of 7 experienced clinical medicine, pharmacy and nursing experts. Foreground questions and outcomes of the draft were voted into a final version after three rounds of counsels of 22 experienced medicine, pharmacy and nursing clinical experts using Delphi method including 3 rounds of inquiry. And the background questions were directly included in the guideline after the 22 experts' thorough revising. The research was carried out under the supervision of method ologists. Active coefficient, coefficient of variation and the frequencies of each score were calculated for quality control. RESULTS: The draft of 34 foreground questions, 6 background questions and 6 outcomes was finally drawn up after thorough selecting and consulting. The 6 background questions revised by the clinical experts were all included. After three rounds of Delphi method, 28 pivotal clinical questions covering the diagnosis, preparation for the treatment, treatment and administration after the treatment, and 6 outcomes were defined and included for the guideline. The rest of the foreground questions, 4 of which were recognized as essential and 2 as important, were excluded from the guideline and left for further revising or updating. As for the outcomes, 4 of them were recognized as critical and the rest as important. The experts contributing to the research were active as the active coefficient reached 100%, and the degree of consensus was fine as the frequencies of the feedback scoring equal to or greater than 4 for all the 28 foreground questions included were greater than 75% and the result was settled in the first round. And 2 outcomes, fatality rate and severity, reached a higher degree of consensus with coefficient of variation less than 15%. CONCLUSION After thorough and rigorous selecting, the clinical questions and outcomes to be included in the Guideline for the Emergency Treatment of Anaphylaxis were finally selected and defined via Delphi method, guiding the future development of the guidelines.
Anaphylaxis/therapy* ; Consensus ; Delphi Technique ; Emergency Treatment ; Humans ; Research Design

The artificial intelligence based on medical aid diagnosis has been in full swing in these years. How to better and more safely utilize this new technology to improve the diagnostic efficiency and quality of doctors poses new challenges for our hospital management. This paper aims to explore relevant management problems and corresponding solutions from seven aspects:data security, system integration, technical parameters, risks, workflows and diagnosis results by introducing a new intelligent image screening system. After these management problems have been better solved, we found that the intelligent image screening system can improve the diagnostic efficiency and quality of doctors.
Artificial Intelligence ; Hospital Administration

OBJECTIVE: To evaluate clinical effects of expanded curettage and bone cement filling combined with internal fixation in treating Campanacci III giant cell tumor of knee joint. METHODS: From January 2006 to December 2016, 21 patients with Campanacci III giant cell tumor of knee joint were treated by expanded curettage and bone cement filling combined with internal fixation, including 11 males and 10 females with an average age of(35.24±10.56) years old (ranged from 21 to 61 years old). The courses of disease ranged from 1.5 to 24.0 months with an average of(8.1±4.4) months. Among them, 8 patients were distal femur and 13 patients were proximal tibia. All patients were primary tumors. Musculoskeletal Tumor Society(MSTS) scores were used to evaluate lower limb function before and after operation. X-ray was used to observe healing of lesions and the occurrence of adverse reactions. RESULTS: All incisions were healed at grade A without complications such as infection and internal fixation failure. All patients were followed up from 8 to 56 months with an average of (29.62±9.48) months. MSTS score at the latest follow-up 26.71±2.35 was higher than that of before operation 15.24±1.14, and had statistical significance(=20.160, =0.000). The results of X-ray at final following-up showed internal fixation was well, and no loosening and fracture of subchondral bone. Three patients recurred giant cell tumor and replaced with tumor prosthesis. CONCLUSIONS Expanded curettage and bone cement filling with internal fixation for the treatment of Campanacci III giant cell tumor of knee joint could effectively retain limb function and reduce tumor recurrence rate.
Adult ; Bone Cements ; Bone Neoplasms ; surgery ; Curettage ; Female ; Giant Cell Tumor of Bone ; surgery ; Humans ; Knee Joint ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Retrospective Studies ; Young Adult