Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Intravascular large B-cell lymphoma (IVLBCL) is a rare large B-cell lymphoma subtype. We report a patient who presented with "recurrent fever and pancytopenia." A 64-year-old female patient had previously been diagnosed with Waldenstrom’s macroglobulinemia and had received zanubrutinib treatment. In February 2023, the patient revisited due to "recurrent fever and pancytopenia." A positron emission tomography/computed tomography scan demonstrated significant enlargement of the bilateral adrenal glands. After an adrenal biopsy, she was diagnosed with diffuse large B-cell lymphoma, not otherwise specified. The patient received chemotherapy with the R-CHOP regimen (rituximab + cyclophosphamide + doxorubicin + vincristine + prednisone). After three treatment courses, a cranial magnetic resonance imaging examination indicated central nervous system infiltration of the lymphoma. After reviewing the pathology of the adrenal biopsy, the final diagnosis was revised as IVLBCL. Despite aggressive treatment, the disease continued to progress, and the patient died two months later. According to a multidisciplinary level, this article discusses the case from the perspective of a multidisciplinary team collaboration, involving imaging, pathology, dermatology, and lymphoma, to provide reference opinions for the clinical diagnosis and treatment of IVLBCL.

Intravascular large B-cell lymphoma (IVLBCL) is a rare large B-cell lymphoma subtype. We report a patient who presented with "recurrent fever and pancytopenia." A 64-year-old female patient had previously been diagnosed with Waldenstrom’s macroglobulinemia and had received zanubrutinib treatment. In February 2023, the patient revisited due to "recurrent fever and pancytopenia." A positron emission tomography/computed tomography scan demonstrated significant enlargement of the bilateral adrenal glands. After an adrenal biopsy, she was diagnosed with diffuse large B-cell lymphoma, not otherwise specified. The patient received chemotherapy with the R-CHOP regimen (rituximab + cyclophosphamide + doxorubicin + vincristine + prednisone). After three treatment courses, a cranial magnetic resonance imaging examination indicated central nervous system infiltration of the lymphoma. After reviewing the pathology of the adrenal biopsy, the final diagnosis was revised as IVLBCL. Despite aggressive treatment, the disease continued to progress, and the patient died two months later. According to a multidisciplinary level, this article discusses the case from the perspective of a multidisciplinary team collaboration, involving imaging, pathology, dermatology, and lymphoma, to provide reference opinions for the clinical diagnosis and treatment of IVLBCL.

Klebsiella pneumoniae(K.pneumoniae)is important zoonotic pathogen causing multiple local and systemic infections.At present,the drug resistance of K.pneumoniae is serious,and mul-tiple drug-resistant strains continue to emerge.Even the incidence of drug-resistant K.pneumoniae infection is increasing year by year.In this study,K.pneumoniae clinical isolate 71Y was used as the starting strain,and a phage with strong lytic activity was successfully obtained from sewage samples.The phage was named vB_KpnP_71Y(abbreviated as P71Y),the general biological char-acteristics and genome of P71Y were further studied and analyzed.P71Y can form clear plaque with a diameter of 2-5 mm and a translucent halo ring on the host bacterium 71Y lawn.Electron micros-copy observation shows that P71Y is a member of the order Autographiviridae and family Caudovi-rales.The incubation period for P71Y infected with K.pneumoniae is about 3 minutes,and one in-fection cycle lasts for about 50 minutes.Each infection of a bacterium can produce approximately 58 progeny phage virus particles.Cleavage spectra showed that the phage could lysate K20 and K57 serotypes of K.pneumoniae.The phage had good stability at 4-50 ℃ and pH values of 3-12.Genom-ic analysis revealed that P71Y contained a double-stranded DNA with a total length of 39 700 bp and a G+C content of 53％.There are a total of 53 coding genes,P71Y does not carry virulence factors and drug resistance genes,which has shown genetic safety.This study isolated a novel lytic phage that can cleave multiple serotypes of K.pneumoniae,which provided experimental materials for the study of the interaction between bacteriophages,different serotypes of K.pneumoniae,and the application of phage for the prevention and controlling of infections caused by multi-drug-re-sistant K.pneumoniae.

The difference in the crystal form of the drug leads to different solubility and stability,affecting drug's the clinical efficacy and bioavailability.Therefore,in recent years,drug crystal forms have received more and more attention from researchers.By reviewing and sorting out relevant literature,this paper summarizes the research progress of drug crystallization theory in recent years from the aspects of influencing factors of drug crystal form,identification and control of drug crystal form,drug crystal form evaluation methods,and applications,aiming to provide a reference for drug crystal form control and process screening.

Traditional Chinese medicine monomer has certain curative effects in tumor treatment,but its low targeting and difficulty in gathering at the tumor site limit its application.As a new type of drug delivery method,environmentally responsive nano drug delivery system has the advantages of targeted drug delivery,reducing drug side effects,and environmentally responsive release,and has been widely used in tumor treatment.In this paper,by consulting and sorting out the relevant literature,the general situation of traditional Chinese medicine monomers in the treatment of tumors,the classification of environment-responsive traditional Chinese medicine monomer nano drug delivery system,and its application in tumor treatment are summarized in three aspects,to provide ideas for solving the limitations of traditional Chinese medicine monomer in the treatment of tumor.

With the further increase of the global cancer burden, various cancers are increasingly challenging human health status and quality of life. Thus, early screening of cancer is crucial. Urinary volatile organic compounds (VOCs) detection techniques have the advantages of easy access to samples, high acceptance of patients, non-invasive, and so on, which have been favored and concerned by researchers. In this paper, existing techniques and methods for cancer diagnosis based on urine VOCs were described, relevant studies on the use of urine VOCs for cancer diagnosis were reviewed, and the barriers and future perspectives of the technique were discussed. This paper can be a reference for researchers working in the direction of urinary VOCs detection, a multidisciplinary field that spans medicine and materials science.

OBJECTIVE: To investigate the expression of calponin-1 (CNN1) in systemic sclerosis (SSc) and its pathogenic role in fibrosis. METHODS: Skin biopsy samples were collected from 19 patients with SSc and 21 healthy subjects. Real-time PCR was used to detect the expression of and mRNAs in the samples, and the protein expression of CNN1 was detected using immunohistochemistry. In cultured primary human dermal fibroblasts, expression was knocked down RNA interference, and the mRNA expression levels of and the fibrosis-related genes , , , , and were detected using real-time PCR; the proliferation of the cells was assessed using a real-time cell proliferation detection system. RESULTS: Compared with that in samples from normal subjects, the expression of mRNA was significantly increased in the skin tissue of patients with SSc ( < 0.05) with a positive correlation with α-SMA (=0.7219, < 0.0001); the protein expression of CNN1 was also significantly increased in the skin tissue of patients with SSc. In cultured primary skin fibroblasts, the expression of CNN1 mRNA was positively correlated with and mRNA expressions (=0.6547, < 0.05; =0.6438, < 0.05). knockdown in the fibroblasts significantly inhibited the cell proliferation, obviously lowered the expressions of fibrosis-related genes, and reduced the protein expression of collagen. CONCLUSIONS The expression of is increased in the skin tissues of patients with SSc, and knockdown can reduce the activity of dermal fibroblasts, suggesting the close correlation of CNN1 with fibrosis in SSc.
Calcium-Binding Proteins ; Cells, Cultured ; Fibroblasts ; Fibrosis ; Humans ; Microfilament Proteins ; Scleroderma, Systemic ; Skin

Objective: To compare the differences of dietary behavior between autistic children and normal children, and to explore the dietary behavior problems and their influencing factors in autistic children, so as to provide theoretical basis for improving dietary behavior problems and guiding scientific feeding of autistic children. Methods: 113 autistic children aged 2-7 from a hospital and an autism rehabilitation training institution in Urumqi were selected as the case group and 223 children aged 2-7 from a hospital in Urumqi as the control group. Results: The results showed that there were significant differences between the two groups in the main type of care, caregiver education, caregiver occupation and monthly per capita economic income(P<0.05). The scores of picking food, food response, unhealthy eating habits, overeating response and emotional eating were significantly higher in the case group than in the control group, while the scores of extrinsic eating and active eating ability were significantly lower in the case group than in the control group(P<0.05). Conclusion The main dietary problems of autistic children include severe picky eating, food response to different degrees, over fullness response, bad eating behavior, emotional eating and so on.