Rare diseases pose significant diagnostic and therapeutic challenges,carrying a high disease burden,their management critically reflects a nation's public health resilience.Currently,China faces key challenges such as scarce treatments,fragmented services,and low drug accessibility in rare disease care,which urgently require systemic solutions.Digital-intelligent technology as a key breakthrough are expected to resolve the challenges in this field.Although its application in the field of rare diseases is gradually expanding,there is a lack of systematic compilation of studies to elucidate how to precisely enhance the precision,synergy and sustainability of diagnosis and treatment.The key challenges in rare disease care concentrate in four areas:inefficiency in prenatal screening,uneven distribution of medical resources,low efficiency in social organization collaboration,and ineffective information dissemination.The"4C"strategy,based on digital-intelligent technology,can address these issues:①coordination,boost prenatal screening awareness and capacity via digital-intelligent platforms to strengthen prevention;②cooperation,deepen collaboration within specialist networks,empowering institutions to enhance diagnostic capacity;③co-creation,empower support organizations to optimize resources,efficiency;④cognition,minimize information dissipation through efficient platforms,improving patient and family quality of life.This establishes an integrated digital-intelligent rare disease model encompassing"screening-diagnosis-treatment-care".

Objective To observe the change patterns of functional connectivity(FC)of basal forebrain subregions in Alzheimer disease(AD)patients.Methods Totally 42 AD patients(AD group)and 41 healthy controls(HC group)were retrospectively enrolled.Seed-based FC analysis was performed on basal forebrain subregions(Ch123 and Ch4)based on their resting-state functional MRI data and compared between groups.Results Compared with HC group,FC between left Ch4 and left hippocampus as well as left posterior cingulate gyrus significantly decreased,but between right Ch4 and right precentral gyrus,as well as right postcentral gyrus increased in AD group(GRF correction,voxel level P＜0.001,cluster level P＜0.05).Meanwhile,FC between left Ch123 and left superior temporal gyrus,left insula,between right Ch123 and left superior temporal gyrus,left temporal pole significantly increased,while between right Ch123 and right orbital superior frontal gyrus,right orbital inferior frontal gyrus significantly decreased in AD group(GRF correction,voxel level P＜0.001,cluster level P＜0.05).Conclusion FC changes of different basal forebrain subregions in AD patients were various.

Rare diseases pose significant diagnostic and therapeutic challenges,carrying a high disease burden,their management critically reflects a nation's public health resilience.Currently,China faces key challenges such as scarce treatments,fragmented services,and low drug accessibility in rare disease care,which urgently require systemic solutions.Digital-intelligent technology as a key breakthrough are expected to resolve the challenges in this field.Although its application in the field of rare diseases is gradually expanding,there is a lack of systematic compilation of studies to elucidate how to precisely enhance the precision,synergy and sustainability of diagnosis and treatment.The key challenges in rare disease care concentrate in four areas:inefficiency in prenatal screening,uneven distribution of medical resources,low efficiency in social organization collaboration,and ineffective information dissemination.The"4C"strategy,based on digital-intelligent technology,can address these issues:①coordination,boost prenatal screening awareness and capacity via digital-intelligent platforms to strengthen prevention;②cooperation,deepen collaboration within specialist networks,empowering institutions to enhance diagnostic capacity;③co-creation,empower support organizations to optimize resources,efficiency;④cognition,minimize information dissipation through efficient platforms,improving patient and family quality of life.This establishes an integrated digital-intelligent rare disease model encompassing"screening-diagnosis-treatment-care".

Objective To observe the change patterns of functional connectivity(FC)of basal forebrain subregions in Alzheimer disease(AD)patients.Methods Totally 42 AD patients(AD group)and 41 healthy controls(HC group)were retrospectively enrolled.Seed-based FC analysis was performed on basal forebrain subregions(Ch123 and Ch4)based on their resting-state functional MRI data and compared between groups.Results Compared with HC group,FC between left Ch4 and left hippocampus as well as left posterior cingulate gyrus significantly decreased,but between right Ch4 and right precentral gyrus,as well as right postcentral gyrus increased in AD group(GRF correction,voxel level P＜0.001,cluster level P＜0.05).Meanwhile,FC between left Ch123 and left superior temporal gyrus,left insula,between right Ch123 and left superior temporal gyrus,left temporal pole significantly increased,while between right Ch123 and right orbital superior frontal gyrus,right orbital inferior frontal gyrus significantly decreased in AD group(GRF correction,voxel level P＜0.001,cluster level P＜0.05).Conclusion FC changes of different basal forebrain subregions in AD patients were various.

Purpose: The present study investigated the association between Systematic COronary Risk Evaluation (SCORE)-estimated cardiovascular risk and carotid stiffening in a middle-aged population using ultrafast pulse wave velocity (ufPWV). Methods: This study enrolled 683 participants without known cardiovascular disease or diabetes mellitus who underwent ufPWV measurements. Clinical interviews, physical examinations, laboratory findings, carotid intima-media thickness (cIMT), pulse wave velocity (PWV) at the beginning of systole (PWV-BS), and PWV at the end of systole (PWV-ES) were assessed. Each participant underwent an assessment of SCORE risk based on major cardiovascular risk factors (CVRFs), including age, sex, smoking, systolic blood pressure (SBP), and total cholesterol (TC). Crude and adjusted odds ratios (ORs) with 95% confidence intervals and ordinal logistic regression were used. Overall CVRFs were adjusted to assess ORs. Results: cIMT and carotid stiffening in PWV-BS and PWV-ES were significantly different between sex subgroups (all P<0.05), but only PWV-ES increased gradually in age and SCORE-estimated risk subgroups (all P<0.05). Compared with cIMT (r=0.388, P<0.001) and PWV-BS (r=0.159, P<0.001), PWV-ES was more strongly correlated with SCORE categories (r=0.405, P<0.001). Higher PWV-ES values were associated with SCORE categories independently of sex, SBP, TC, and smoking in moderate-risk and high-risk subgroups (OR, 1.63; P<0.001 and OR, 2.12; P=0.024, respectively), but were not independent of age in all risk subgroups (all P>0.05). Conclusion Carotid stiffening quantified by ufPWV is linked to SCORE categories, and elevated PWV-ES may aid in cardiovascular risk stratification.

Objective:To study the relationship of pathogenic bacteria in midstream urine culture and stone composition of patients characteristics with infection stones.Methods:Between January 2016 and December 2020, 989 patients with infectious stones who attended Tsinghua Chang Gung Hospital, affiliated with Tsinghua University, for surgical treatment were enrolled in the study. There were 545 male and 444 female patients, with the mean age (48±14) years. The left and right side stones were 396 and 333, respectively. There were 260 bilateral stones, 264 single stones, 334 multiple stones, and 391 deer-stalker-shaped stones. The maximum diameter of stones was (33.4±26.5)mm, combined with diabetes in 109 cases and hypertension in 235 cases. Clean middle-urine was collected for bacterial culture, and intraoperative stone specimens were collected by percutaneous nephrolithotomy (PCNL). Personal characteristics of the patient such as gender, age, body mass index, clinical information such as stone size, location, comorbidities, results of urine culture and stone composition were recorded. The differences of infectious stone composition was analyzed between urease-producing, non-urease-producing bacteria.Results:Among the 989 patients with infectious stones, 259 were pure infectious stones, 131 were mixed infectious stones, and 599 were combined with infectious stone components. Urine cultures were positive in 627(63.4%) patients with infectious stones. The predominant urease-producing bacteria included Ureaplasma urealyticum(94 case), Proteus mirabilis(58 case), and Staphylococcus spp.(36 case). Pure infectious stones were common in Proteus mirabilis, while combined with infectious stone components were common in Ureaplasma urealyticum and Staphylococcus spp. The predominant non-urease-producing bacteria included Escherichia coli(175 case), Enterococcus spp.(76 case) and Streptococcus spp.(35 case). Escherichia coli commonly contained in infectious stone components and pure infectious stones, whereas Enterococcus spp. and Streptococcus spp. commonly contained in infectious stone components. Escherichia coli (61 case), Proteus mirabilis (44 case) and Enterococcus spp.(20 case) were the most common bacteria in 259 cases of pure infectious stones. Escherichia coli (36 case), Enterococcus spp. (14 case) and Ureaplasma urealyticum (10 case) were the most common bacteria in 131 cases of mixed infectious stones. The most common bacteria in 599 cases of combined infectious stones were Escherichia coli (78 case), Ureaplasma urealyticum (68 case) and Enterococcus spp. (42 case).Conclusions:Urease producing bacteria were not common in infectious stones. It was common for the Ureaplasma urealyticum in combined infectious stone components, while Escherichia coli was common in pure and combined infectious stone components.

133 male patients with type 2 diabetes mellitus were divided into non-atherogenic phenom( N group ) and atherogenic phenom( A group) according to the c utpoint of atherogenic index of plasma (AIP) at 0.06.The clinical chemistry data were compared between two groups.The results showed that body mass index ( BMI ),waist-tohip ratio (WHR),homeostasis model assessment insulin resistance index ( HOMA-IR ) and insulin secretion index (HOMA-IS),serum triglyceride (TG),very low density lipoprotein-cholesterol (VLDL-C),serum uric acid ( SUA ),urine uric acid ( UUA ),and urine micro-albumin ( UMA ) levels in A group were higher than those in N group ( all P＜0.05 ),while high density lipoprotein-cholesterol ( HDL-C ) level was lower ( P＜0.01 ),as well as higher coronary heart disease incidence in A group as compared with N group( P＜0.05 ).Correlation analysis revealed that AIP was positively related with age,BMI,WHR,HOMA-IR,HOMA-IS,systolic blood pressure,diastolic blood poressure,TG,total cholesterol,VLDL-C,SUA,UUA,and UMA( all P＜0.05 ),and negatively related with HDL-C (P＜0.01).Multivariant stepwise linear regression analysis revealed that TG,HDL-C,V LDL-C,and UUA were independent influential factors for AIP.

Alc in trial group were significant better than those in control group ( P < 0. 05 ). The results indicate that type 2 diabetic patients with Hp infection should receive moxifloxacin-based triple therapy as first-line treatment.