To investigate the malignant progression and molecular mechanism of KHSRP regulating esophageal squamous cell carcinoma(ESCC) through the JAK1/STAT3 signaling axis.

A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

Objective To study the medication law of Professor Wang Zhongyi in the treatment of tic disorder(TD)based on data mining technology.Methods From January 1,2022 to December 31,2023,the cases treated for TD in Professor Wang Zhongyi's outpatient clinic,which participated in the real-world study were collected.A comprehensive database has been established,screening information related to effective case diagnosis and treatment.Utilizing Excel 2021,R 4.4.2,Origin 2024 and Cytoscape 3.9.1,this study conducted medication frequency analysis,property-flavor-meridian tropism analysis,efficacy analysis,association rule analysis,clustering analysis and co-occurrence network analysis to summarize medication law.Results Totally 640 effective prescriptions were included,involving 208 kinds of Chinese materia medica.The properties were mainly warm,cold,and neutral.The flavors were mainly pungent,bitter and sweet.The meridians were mainly liver meridians.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Correlation analysis obtained 17 strongly correlated rules.Clustering analysis obtained 5 types of medicinal combinations.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Conclusion According to the comprehensive statistical analysis,Uncariae Ramulus cum Uncis,Gastrodiae Rhizoma,Haliotidos Concha,Paeoniae Radix alba,Bupleuri Radix,Puerariae Lobatue Radix and Scorpio are the core drugs used by Professor Wang Zhongyi to treat TD.Professor Wang Zhongyi believes that the core pathogenesis of TD is the internal movement of liver wind,and the treatment mainly focuses on calming the liver,calming the wind and stopping spasms,while also nourishing the heart,calming the mind,harmonizing blood and relieving qi.Based on different clinical symptoms of TD,modifications and adjustments are made to the core prescription to treat children with TD.

A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

Objective To study the medication law of Professor Wang Zhongyi in the treatment of tic disorder(TD)based on data mining technology.Methods From January 1,2022 to December 31,2023,the cases treated for TD in Professor Wang Zhongyi's outpatient clinic,which participated in the real-world study were collected.A comprehensive database has been established,screening information related to effective case diagnosis and treatment.Utilizing Excel 2021,R 4.4.2,Origin 2024 and Cytoscape 3.9.1,this study conducted medication frequency analysis,property-flavor-meridian tropism analysis,efficacy analysis,association rule analysis,clustering analysis and co-occurrence network analysis to summarize medication law.Results Totally 640 effective prescriptions were included,involving 208 kinds of Chinese materia medica.The properties were mainly warm,cold,and neutral.The flavors were mainly pungent,bitter and sweet.The meridians were mainly liver meridians.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Correlation analysis obtained 17 strongly correlated rules.Clustering analysis obtained 5 types of medicinal combinations.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Conclusion According to the comprehensive statistical analysis,Uncariae Ramulus cum Uncis,Gastrodiae Rhizoma,Haliotidos Concha,Paeoniae Radix alba,Bupleuri Radix,Puerariae Lobatue Radix and Scorpio are the core drugs used by Professor Wang Zhongyi to treat TD.Professor Wang Zhongyi believes that the core pathogenesis of TD is the internal movement of liver wind,and the treatment mainly focuses on calming the liver,calming the wind and stopping spasms,while also nourishing the heart,calming the mind,harmonizing blood and relieving qi.Based on different clinical symptoms of TD,modifications and adjustments are made to the core prescription to treat children with TD.

Objective To analyze the clinical characteristics of pulmonary nocardiosis misdiagnosed as pulmonary tuberculosis and the causes of misdiagnosis, aiming to improve the diagnosis and treatment of the disease. Methods　Clinical data were collected from 18 cases of pulmonary nocardiosis misdiagnosed as pulmonary tuberculosis admitted to Beijing Chest Hospital (1 case), Hebei Chest Hospital (15 cases), the 5th Hospital of Shijiazhuang (1 case), and the 1st Hospital of Xinji (1 case) from October 2018 to June 2024, and the clinical manifestations, laboratory tests, imaging, treatment process, disease outcomes, and the causes of misdiagnosis were retrospectively analyzed. Results Among the 18 patients, there were 10 males and 8 females, with a median age of (59±14) years. All of the cases had the common clinical manifestations of cough and sputum. Seventeen cases had underlying disease, including 1 case with AIDS, 1 case with diabetes, 2 cases with obsolete pulmonary tuberculosis, 2 cases with chronic obstructive pulmonary disease, and 14 cases with bronchiectasis. Sputum or bronchoalveolar lavage fluid samples from 18 patients were cultured positive on Columbia blood plates, Roche medium, or MGIT 960, identifying 11 cases of Nocardia farcinica, 1 case of Nocardia otitidiscaviarum, and 6 cases of Nocardia cyriacigeorgica. All of the 18 patients received treatment with trimethoprim-sulfamethoxazole, 14 in 18 receiving combination therapy, resulting in 8 cures, 8 improvements, and 2 deaths. The reasons for misdiagnosis included: When an infectious disease in patients with long-term expectoration could not be controlled initially, the diagnosis of pulmonary tuberculosis would often be made clinically, and the patients would be given anti-tuberculosis therapy; insufficient understanding of the knowledge of Nocardia by laboratory physicians and doctors; the laboratory physicians neglected the importance of the judgment of Nocardia morphology by Gram staining; the bacterial culture period was usually 48 hours, while Nocardia grew slowly, resulting in missed detections; MGIT 960 culture and Roche culture had long cultivation period, which could increase the positive rate of Nocardia, but fewer units were carrying out such cultivation; insufficient understanding of the morphology differences between cultured Nocardia and Nocardia in the original specimen resulted in misjudgment. Conclusions Pulmonary nocardiosis is easily misdiagnosed as pulmonary tuberculosis. For patients, who have long-term expectoration, with hypoimmunity, or diseases that damage the lung structure such as bronchiectasis, if the response of conventional treatment is poor, Nocardia infection should be considered; Medical staff should enhance their understanding of Nocardia and pay more attention to the microscopic examination of Gram staining, weak acid-fast staining, and culture of sputum; Timely treatment following the diagnosis of nocardiosis can significantly improve the prognosis.

Objective:To analyze the status quo of intelligent health management services in health examination institutions in Shanxi Province.Methods:This study is a cross-sectional study. In October 2023, 292 health examination institutions in 11 cities of Shanxi Province were surveyed by convenient sampling with the help of “Questionnaire star” to investigate the health examination (management) institutions to carry out smart health management services from January to December 2022. It was mainly divided into three aspects: pre-inspection, in-inspection and post-inspection, including 6 dimensions, with a total of 21 items. A total of 300 questionnaires were distributed in this survey, and 292 were effectively collected, with an effective recovery rate of 97.33%. The 292 questionnaires were divided and compared according to four regions: the north of Shanxi Province, the middle of Shanxi Province, the south of Shanxi Province and the southeast of Shanxi Province.Results:The health examination (management) institutions were distributed in 11 prefectures and cities in Shanxi Province, and there were 56 (19.2%) tertiary health examination (management) institutions. There were 178 government organizations (61.0%) and 114 social organizations (39.0%). There were 256 (87.7%) that carried out smart health management services; among them, 229 (78.4%) had smart management service systems, and 58 (19.9%) had physical examination centers with smart health management clinics. A total of 108 institutions (36.99%) carried out follow-up visits after intelligent screening. The prevalence of intelligent referrals were 63.3%, 59.6%, 78.0% and 85.2% in the north of Shanxi Province, the middle of Shanxi Province, the south of Shanxi Province and the southeast of Shanxi Province, respectively ( χ2=14.02, P<0.05). The prevalence of self-service in the north of Shanxi Province, the middle of Shanxi Province, the south of Shanxi Province and the southeast of Shanxi Province were 39.2%, 52.3%, 62.0% and 37.0%, respectively ( χ2=9.75, P<0.05). Conclusions:The development of intelligent health management in health examination (management) institutions in Shanxi Province is good, and the service scale continues to grow, but the problem of uneven development among regions is severe. In addition, the proportion of institutions providing services through information technology is not high, and the rate of intelligent management outpatient service, intelligent post-examination follow-up and intelligent physical examination service satisfaction is low.

Objective:To report a case of Kufor-Rakeb syndrome caused by novel ATP13A2 mutation, collect the cases related to ATP13A2 gene mutation published in recent years, summarize the clinical manifestations of the disease, and broaden the clinical diagnostic thinking. Methods:The clinical manifestations of a newly diagnosed patient with Kufor-Rakeb syndrome caused by ATP13A2 gene mutation admitted to Zhongda Hospital, Southeast University on November 26, 2021, were summarized. The related cases of ATP13A2 mutation published from January 2000 to December 2021 were searched through the PubMed and CNKI databases using the keywords "ATP13A2" and "Parkinson′s disease". The onset age, clinical symptoms, family history, genetic testing, and levodopa responsiveness results of the patients were collected. Results:The patient is a 52-year-old female with the main clinical symptoms of static tremor and bradykinesia. Physical examination showed a gear like increase in muscle tension in the right upper limb, involuntary shaking of the right hand and slow movement. She had good responsiveness to levodopa, and the magnetic resonance imaging and susceptibility weighted imaging of the head showed a lack of clear observation of bilateral black matter swallowtail sign. Whole exome sequencing showed that mutations c.3010A>G (p.S1004G) and c.1195+5G>A (splice) were found in the ATP13A2 gene, both of which were not reported. The c.3010A>G (p.S1004G) mutation originated from the mother, and the c.1195+5G>A (splice) mutation originated from the father. In the retrospective literature review, a total of 10 cases were collected, with onset ages ranging from 18 months to 24 years. Among them, 4/10 patients′ parents married close relatives, and the clinical manifestations were mainly motor symptoms of Parkinson′s disease. In addition, 5/10 patients had cognitive dysfunction, and 3/10 patients had mental symptoms. And demonstrations of most patients′ magnetic resonance imaging were normal in the early stage of the disease, and as the disease progressed, some patients′ imaging results showed specific changes, such as whole brain atrophy and changes in the corpus callosum. Meanwhile, 8/10 patients showed good responsiveness to levodopa. Conclusions:Kufor-Rakeb syndrome is a special type of adolescent levodopa responsive Parkinson′s disease caused by ATP13A2 mutation, which is an autosomal recessive disorder. In addition to motor symptoms such as static tremor and bradykinesia, its clinical manifestations may also be accompanied by non motor symptoms such as cognitive and psychiatric disorders. The disease responds well to treatment with levodopa.

Minimal residual disease (MRD), a crucial biomarker for assessing efficacy and predicting recurrence, refers to residual tumor cells remaining in the body of patients with hematological malignancies who achieved complete remission after treatment. This study aimed to conduct a retrospective analysis of the clinical diagnosis, treatment, and MRD monitoring of a pediatric patient with multiple acute B-lymphocytic leukemia relapses, alongside a review of relevant literature. In this case, Ig rearrangement based on next-generation sequencing (NGS) was more accurate in assessing the MRD level, compared with the traditional method of MRD detection, indicating the risk of earlier relapse and guided interventions in time. Additionally, NGS-MRD detected clonal evolution, providing new ideas to further investigate the intrinsic factors of disease development.