To summarize the applications of data-intelligence technology in diagnosing lysosomal storage disease(LSD), analyze their opportunities and challenges in clinical practice as well as their development trends, and provide insights and recommendations for advancing digitally driven auxiliary diagnostic technologies.

BACKGROUND:The phosphatidylinositol 3-kinase/protein kinase(PI3K/AKT)signaling pathway plays a pivotal role in regulating osteoclast activation,which is essential for maintaining bone homeostasis.Bone destruction in osteoarticular tuberculosis is caused by aberrant osteoclastogenesis induced by Mycobacterium tuberculosis infection.However,the role of the PI3K signaling pathway in Mycobacterium tuberculosis-induced aberrant osteoclastogenesis remains unclear. OBJECTIVE:To investigate the effects and mechanisms of the PI3K/AKT signaling pathway inhibitor BYL-719 on aberrant osteoclastogenesis induced by Mycobacterium tuberculosis. METHODS:RAW264.7 cells were infected with bovine Mycobacterium tuberculosis bacillus calmette-cuerin vaccine,and Ag85B was used for cellular immunofluorescence staining.The cell counting kit-8 assay was employed to determine the safe concentration of BYL-719.There were four groups in the experiment:blank control group,BYL-719 group,BCG group,and BCG+BYL-719 group.Under the induction of receptor activator of nuclear factor kappa-B ligand,the effects of BYL-719 on post-infection osteoclast differentiation and fusion were explored through tartrate-resistant acid phosphatase staining and phalloidin staining.RT-PCR and western blot were used to detect the expression of osteoclast-related genes and proteins,and further investigate the mechanism of action. RESULTS AND CONCLUSION:Immunofluorescence staining showed that RAW264.7 cells phagocytosed Mycobacterium tuberculosis.Cell counting kit-8 data indicated that 40 nmol/L BYL-719 was non-toxic to cells.Tartrate-resistant acid phosphatase staining and phalloidin staining showed that BYL-719 inhibited the generation and fusion ability of osteoclasts following infection.RT-PCR and western blot results also indicated that BYL-719 suppressed the upregulation of osteoclast-specific genes(including c-Fos,NFATc1,matrix metalloproteinase 9,and CtsK)induced by Mycobacterium tuberculosis infection(P<0.05).Western blot and immunofluorescence staining revealed that BYL-719 inhibited excessive osteoclast differentiation induced by Mycobacterium tuberculosis by downregulating the expression of IκBα-p65.To conclude,BYL-719 inhibits aberrant osteoclastogenesis induced by Mycobacterium tuberculosis through the downregulation of IκBα/p65.Therefore,the IκBα/p65 signaling pathway is a potential therapeutic target for osteoarticular tuberculosis,and BYL-719 holds potential value for the preventing and amelioration of bone destruction in osteoarticular tuberculosis.BYL-719 has the potential to prevent and ameliorate bone destruction in osteoarticular tuberculosis.

The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis （GS/CACM 337-2023） was released by the China Association of Chinese Medicine on December 13^th， 2023. This expert consensus was developed by experts in methodology， pharmacy， and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine （CACM） and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine （pulmonary diseases） and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung， acute bronchitis， and acute attack of chronic bronchitis from the aspects of applicable populations， efficacy evaluation， usage， dosage， drug combination， and safety. It is expected to guide the rational drug use in medical and health institutions， give full play to the unique value of Qinbaohong Zhike oral liquid， and vigorously promote the inheritance and innovation of Chinese patent medicines.

[Objective] To investigate and summarize the clinicopathological features, diagnosis, treatment and prognosis of adrenocortical carcinoma with rhabdoid features. [Methods] The clinical diagnosis and treatment of a case of adrenocortical carcinoma with rhabdoid features admitled to Department of Urology, Weifang People's Hospital were reported.The clinical manifestations, pathological features, diagnosis and prognosis of the disease were analyzed in combination with relevant literature. [Results] A 34-year-old male patient was admitted due to scrotal distension and pain that had persisted for 6 months.Imaging examination showed a huge soft tissue tumor in the left adrenal region of the retroperitoneum with compression displacement of the left kidney, leading to obstruction of venous return in the left spermatic vein, which in turn caused varicose veins.The levels of serum renin, angiotensin, aldosterone, cortisol, and catecholamine were within normal ranges.Surgical resection of the tumor was performed, and postoperative pathological examination revealed that the tumor tissue was predominantly composed of rhabdoid cells, exhibiting positive immunohistochemical staining for INI 1, Syn, Calretinin and Vimentin.Genetic testing did not identify any deletion of SMARCB1 and SMARCA4 mutations.Therefore, the diagnosis was adrenocortical carcinoma with rhabdoid features.At the current 20-month follow-up, no recurrence or metastasis was observed.A review of the literature found that only 7 cases of this disease had been reported. [Conclusion] Adrenocortical carcinoma with rhabdoid features is a rare disease, and a definitive diagnosis is dependent upon pathological examination.Surgical resection remains the primary treatment.Long-term follow-up is essential, and further research is needed to evaluate the impact of adjuvant therapy.

Objective:To investigate the clinical benefit and application value of the Da Vinci robotic surgical system through bilateral axillary areolar approach in cervical lymph node dissection in obese thyroid carcinoma patients.Methods:The clinical data of 117 patients with thyroid cancer admitted to the thyroid and breast surgery Department of the 960th Hospital of the Chinese PLA Joint Logistic Support Force from January 2018 to June 2023 were retrospectively analyzed. There were 55 males and 62 females, aged from 17 to 64 years, with an average age of (36.05±8.77) years. According to body mass index (BMI), patients were divided into normal group (18.5 kg/m 2≤BMI< 24 kg/m 2, n=60) and obese group (BMI≥28 kg/m 2, n=57). Gender, age, BMI, operation time, postoperative drainage fluid volume, tumor diameter, central lymph node dissection and number of metastasis, cervical lymph node dissection and number of metastasis, postoperative hospital stay, postoperative aesthetic satisfaction score and surgical complications of the two groups were analyzed. SPSS 26.0 statistical software was used to analyze the data. Results:All of patients completed the operation successfully, and neither group was transferred to open surgery. The BMI of obese group was higher than that of normal group [(31.35±3.08) kg/m 2vs (22.53±0.82) kg/m 2, t=20.97, P<0.05]. The maximum tumor diameter in the obese group was greater than that in the normal group [(13.81±10.70) mm vs (10.42±5.53) mm, t=2.17, P<0.05]. There were no significant differences in operation time, number of central lymph node dissection and metastasis, number of cervical lymph node dissection and metastasis and postoperative complications between the two groups ( P>0.05). Conclusions:Utilization of the Da Vinci robotic surgical system via the BABA approach demonstrates both safety and feasibility in obese patients with thyroid carcinoma undergoing lateral cervical lymph node dissection. Importantly, this technique does not increase the risk of surgical complications, thus providing a novel alternative for lateral cervical lymph node dissection in obese thyroid carcinoma patients.

Aim To investigate the regulatory mecha-nism of arrhythmia of sodium channel ubiquitination af-ter MI and to study the electrophysiological remodeling mechanism of lncRNA-CCRR after MI for the preven-tion and treatment of arrhythmia after MI.Methods LncRNA-CCRR transgenic mice and C57BL/6 mice injected with lncRNA-CCRR overexpressed adeno-asso-ciated virus were used.Four weeks after infection,the left anterior descending branch of the coronary artery was ligated for 12 h to establish a mouse acute myocar-dial infarction model,and the incidence of arrhythmia was detected by programmed electrical stimulation.Ln-cRNA-CCRR overexpression/knockdown adeno-associ-ated virus and negative control were transfected into neonatal mouse cardiomyocytes(NMCMs),and the model was prepared by hypoxia for 12 h.LncRNA-CCRR expression was detected by FISH,Nav1.5 and UBA6 protein and Nav.1.5 mRNA expression were de-tected by Western blot and real-time quantitative poly-merase chain reaction(qRT-PCR),Nav1.5 and UBA6 expressions were detected by immunofluores-cence,and the relationship between lncRNA-CCRR and UBA6 was detected by RIP.INa current density af-ter CCRR overexpression and knockdown was detected by Whole-cell clamp patch.Results In MI mice,the expression of lncRNA-CCRR decreased,the incidence of arrhythmia increased,the expression of CCRR and Nav1.5 mRNA was down-regulated,the protein ex-pression of Nav1.5 was down-regulated,and the pro-tein expression of UBA6 was up-regulated compared with sham group.Overexpression of CCRR could re-verse the above changes.AAV-CCRR could reverse the down-regulated CCRR and Nav1.5 mRNA levels af-ter hypoxia,and improve the expression of Nav1.5 and UBA6 protein.The direct relationship between ln-cRNA-CCRR and UBA6 was identified by RIP analy-sis.The INa density increased after transfection with AAV-CCRR.The INa density decreased after transfec-tion with AAV-si-CCRR.Conclusions The expres-sion of lncRNA-CCRR decreases after MI,and ln-cRNA-CCRR can improve arrhythmia induced by MI by inhibiting UBA6 to increase the protein expression level of Nav1.5 and the density of INa.

Objective To analyze the correlation between hip joint musculoskeletal ultrasound score and ankylosing spondylitis(AS)disease activity,as well as to investigate the value of high frequency ultrasound in the assessment of hip joint involvement in AS.Methods The clinical data of 244 patients with AS who were treated in the rheumatology department of from March 2019 to March 2022 were retrospectively analyzed.Among them,there 174 males and 70 females,aged from 19 to 58 years old with an average of(34.22±9.49)years old;the disease duration of AS patients ranged from 8 months to 26 years,with an average of(13.68±4.04)years.The 244 patients were divided into disease group(83 cases)and control group(161 cases)based in the presence of hip joint involuement.According to the the disease activity,patients in the disease group were further categorezed into active phase(45 cases)and stable phase(38 cases).The ultrasound scores of patients in the active and stable phases of the disease group and the control group were compared.Relevant factors of hip joint involvement in AS patients were analyzed,and analyze the correlation between ultrasound score and Bath ankylosing spondylitis disease activity score index(BASD AI),Bath ankylosing spondylitis functional index(BASFI),visual analogue score of pain(VAS),C-reactive protein(CRP),erythrocyte sedimentation rate(ESR),and the correlation between hip joint capsule score and tendon attach-ment end score and BASDAI,BASFI,VAS,CRP and ESR.Results The hip joint capsule score(3.06±1.12),femoral head score(1.45±0.43),tendon attachment end score(3.28±1.30)and total ultrasound score(6.65±2.31)of the disease group were higher than those of the control group(1.51±0.48)、(0.66±0.27)、(1.61±0.53)、(3.81±1.44)scores(P＜0.05).Multifactor Logstic re-gression analysis showed that the course of disease,hip joint capsule score and total ultrasound score were independent risk factors for hip involvement in AS patients.The hip capsule score(3.65±1.22)and total ultrasound score(8.28±2.33)in the ac-tive phase of the disease group were higher than those in the stable phase(2.48±1.04)、(6.82±1.96)scores(P＜0.05).The hip joint capsule score and total ultrasonic score of AS patients were positively correlated with BASDAI,BASFI,VAS,CRP,and ESR(P＜0.05,P＜0.01).The score of tendon attachment end was positively correlated with CRP(P＜0.05).The score of joint capsule effusion in AS patients was positively correlated with BASDAI,BASFI and VAS(P＜0.05,P＜0.01).The synovial blood flow score was positively correlated with BASDAI,VAS,CRP and ESR(P＜0.05,P＜0.01).The synovial thickening score was positively correlated with BASDAI,BASFI,VAS,CRP and ESR(P＜0.05,P＜0.01).There was no correlation between the score of tendon attachment end and BASDAI,BASFI,VAS,CRP and ESR.Conclusion There is a correlation between hip joint ul-trasonic score of hip joint and clinical indexes in AS patients.Hip joint capsule score and total ultrasonic score were indepen-dent risk factors for hip involvement in AS patients.High frequency ultrasound exhibits clinical value in the diagnosis of hip joint involvement in AS patients.

Objective To investigate the clinical efficacy of arthroscopic measurement of intra-articular graft length in the application of total internal reconstruction of the anterior cruciate ligament(ACL).Methods The 60 patients with ACL injury treated between January 2020 and January 2022 were retrospectively analyzed.There were 37 males and 23 females,aged from 22 to 44 years.According to the different surgical methods,they were divided into two groups:conventional surgery group(conventional group)and pull-line measurement group(measurement group),with 30 cases in each group.In the conventional group,there were 20 males and 10 females,with an average age of(30.00±3.95)years old;the body mass index(BMI)was(22.58±1.41)kg·m-2;there were 9 cases on the left side and 21 cases on the right side;the time from injury to operation was(3.00±1.35)days.In the measurement group,there were 17 males and 13 females,with an average of(32.00±4.29)years;BMI was(23.29±1.39)kg·m-2;there were 12 cases on the left side and 18 cases on the right side;the time from injury to oper-ation was(3.00±1.27)days.The clinical data of the patients before surgery,6 months after surgery and 12 months after surgery were collected and recorded.The clinical efficacy of the two methods was compared in terms of postoperative VAS,KOOS,Lysholm score,IKDC score,knee stability(Lachman test,anterior drawer test and axial shift test),the degree of widening of bone tunnel diameter measured by CT at different stages of the postoperative period and MRI scoring system.Results At 12 months after surgery,the VAS of the measurement group was lower than that of the conventional group(P＜0.001).At 12 months after surgery,KOOS scores in the measurement group were higher than those in the conventional group,and there were statistical-ly significant differences in all scores except symptom scores(P＜0.05).Six months after operation,Lysholm total score and IKDC total score in the measurement group were higher than those in the conventional group,and the difference was statistically signifi-cant(P＜0.05).At 12 months after surgery,knee stability tests were performed,and the differences between the Lachman test,anterior drawer test and axial shift test measurement group and the conventional group were not statistically significant(P＞0.05).However,overall knee instability analysis showed that the knee stability of the measurement group was better than that of the con-trol group,and the difference between the groups was statistically significant(P=0.038).The imaging assessment of patients in both groups at 6 months after surgery showed that the widening of tendon tunnel diameter in both femur and tibia was reduced in the measurement group compared with the conventional group after surgery,and the difference was statistically significant(P＜0.05);MRI scores were higher in all patients in the measurement group those in the conventional group,at 6 months and 12 months agter surgery(P＜0.05).Conclusion Arthroscopic measurement of intra-articular cavity graft length in total internal technique for ACL reconstruction,high tendon utilization,good stability,the knee joint function has recovered satisfactorily within one year,and the therapeutic effect is affirmed.

For the past 30 years,percutaneous balloon mitral valve dilatation has been performed under the guidance of X-rays and bedside ultrasound.However,there are still some cases of mitral valve stenosis in the large atrium where balloon dilation failed.Intraperitoneal ultrasound-guided percutaneous balloon mitral valve plasty is accurate and feasible,which can reduce the occurrence of complications and improve the success rate of such elderly complex cases.Two patients with severe mitral stenosis underwent percutaneous balloon mitral valve plasty guided by intracardiac ultrasound.The operations were successful without any complications,which can provide reference for clinical treatment of mitral stenosis.

Objective To explore the effectiveness and safety of percutaneous coronary artery shock wave balloon angioplasty(IVL)under the guidance of intravascular ultrasound(IVUS)for the treatment of severe calcification lesions in the left main artery(LM).Methods A total of 26 patients with severe LM(mouth,body,bifurcation)calcification admitted to Jiangnan University Affiliated Hospital from October 2022 to April 2024 were included,with an average age of 72.0(61.8,75.4)years.Under the guidance of IVUS,IVL was used for pre-treatment of calcified lesions,followed by percutaneous coronary intervention(PCI)with stent/drug balloon implantation.All patients were evaluated using IVUS before and after the use of IVL and after PCI.And compare the IVUS intracavity related data before and after treatment[plaque burden(PB)、minimum lumen area(MLA)、minimum lumen diameter(MLD)]and calcification fracture number,minimum stent area(MSA),stent expansion coefficient(expansion,EXP),etc.Results There were 26 patients(2 with opening lesions,7 with body lesions,and 17 with bifurcation lesions at the end of the main trunk),including 7 with stable angina pectoris(SAP),10 with unstable angina(UA),4 with acute ST-segment elevation myocardial infarction(STEMI),and 5 with non ST-segment elevation myocardial infarction(NSTEMI).The PB at the most severe site of calcification decreased by 79.50(76.00,83.75)％compared to 80.00(76.00,83.75)％after IVL(P=0.001),MLA increased by 3.39(3.14,3.68)mm2 compared to 3.38(3.14,3.67)mm2 after IVL(P=0.039),MLD increased by 3.21(3.07,3.30)mm compared to 3.20(3.07,3.30)mm after IVL(P=0.024),and there was 100％calcification rupture(1/2 cases,2/9 cases,≥3/15 cases).The stent/drug ball was successfully implanted 100％,with EXP of(89.15±4.42)％and an MSA of 7.20(6.46,7.45)mm2.No adverse events such as death,angina or recurrent myocardial infarction occurred during the 3 months follow-up after surgery.Conclusions After evaluation by IVUS and pre-treatment with IVL,PCI was successfully completed for severe calcification lesions in LM,and IVL can be used as an option for the treatment of severe calcification in LM.