This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

Objective:To explore the clinical characteristics and healthcare burden in patients with McCune-Albright syndrome (MAS).Methods:A cross-sectional study was conducted at the Children′s Hospital, Zhejiang University School of Medicine. Clinical and healthcare burden data were systematically collected through structured questionnaires in 164 children with MAS from February 2022 to May 2023. According to the clinical characteristics, patients were categorized into 3 groups: monosymptomatic, bisymptomatic and trisymptomatic groups. Patients were also divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Comparative analyses of clinical characteristics and healthcare burden were conducted across age, sex, and symptom categories.Results:The cohort comprised 59 males (36.0%) and 105 females (64.0%) with an age of 4.6 (2.0, 7.4) years. Age stratification revealed 117 cases (71.3%) aged 0-<7 years, 29 cases (17.7%) aged 7-<10 years, and 18 cases (11.0%) aged 10-<18 years. Among monosymptomatic (67 cases, 40.9%), the cohort comprised 32 females (47.8%) and 35 males (52.2%), predominantly presenting with fibrous dysplasia (57 cases, 85.1%). This subgroup showed peak prevalence in the 0-<7 years age range (29 cases (50.9%)). The bisymptomatic cohort (56 cases, 34.1%) consisted of 39 females (69.6%) and 17 males (30.4%), predominantly manifesting fibrous dysplasia with skin hyperpigmentation (25 cases, 44.6%). Peak prevalence occurred in the 0-<7 years subgroup(16 cases (64.0%)). The trisymptomatic cohort (41 cases, 25.0%) consisted of 34 females (82.9%) and 7 males (17.1%), with peak prevalence occurring in the 0-<7 years subgroup (36 cases (87.8%)). The diagnostic journey analysis revealed 94 cases (57.3%) required 1-3 referrals, and 34 cases (20.7%) necessitated >3 referrals from symptom onset to definitive diagnosis. Healthcare expenditure analysis revealed 69 families (42.1%) incurred direct medical costs of 10 000-100 000 CNY, with 11 families (6.7%) exceeding >100 000 CNY. Direct non-medical costs reached of 10 000-100 000 CNY for 62 families (37.8%) and >100 000 CNY for 4 families (2.4%). Productivity loss affected 58 families (35.4%) at 10 000-100 000 CNY and 8 families (4.9%) above 100 000 CNY during the study period.Conclusion:MAS requires increased attention to skeletal manifestations, especially in children aged 0-<7 years. Moreover, the significant financial burden on families necessitates a society-wide support system.

Objective To explore the challenges faced by online appointment nurses during nasogastric intubation and to provide a reference for improvement of the quality and safety of the services provided by online appointment nursing.Methods A purposive sampling was employed to select 13 online appointment nurses from our hospital who had previously provided home nasogastric intubation services for patients.Semi-structured interviews were conducted with the online appointment nurses.The results acquired from the interviews were analysed using Colaizzi's method.Results Two themes were identified.Theme 1 covered the increased risks of nasogastric intubation due to the patients themselves and home environment,which included 4 sub-themes of difficulties in identification and response due to complex conditions of patient,high risk of a sudden asphyxia with poor resuscitation facility,psychological stress from unfamiliar home environment,and more challenges in risk identification due to limited conditions for performing home-based intubation procedures;Theme 2 covered the coping strategies of online-scheduled nurses,which included the improvement of knowledge and skills in emergency nursing to improve comfidence and judge ability of intubation,the strengthening of nurse-patient communication to build a trust and cooperation,the conduct of thorough assessment to ensure procedural safety,and the use of alternative tools and collaboration with family members.Conclusion Online appointment nurses face challenges and risks from both of the procedures and patients themselves during home based nasogastric intubation.Hospitals and relevant management should actively implement corresponding strategies,provide training and guidance for online appointment nurses,develop relevant regulations,and improve the management mechanisms of the internet platform to ensure the safety of home based nasogastric intubation for online appointment nurses and improve the quality of the"Internet Plus Nursing Services."

Objective To explore the challenges faced by online appointment nurses during nasogastric intubation and to provide a reference for improvement of the quality and safety of the services provided by online appointment nursing.Methods A purposive sampling was employed to select 13 online appointment nurses from our hospital who had previously provided home nasogastric intubation services for patients.Semi-structured interviews were conducted with the online appointment nurses.The results acquired from the interviews were analysed using Colaizzi's method.Results Two themes were identified.Theme 1 covered the increased risks of nasogastric intubation due to the patients themselves and home environment,which included 4 sub-themes of difficulties in identification and response due to complex conditions of patient,high risk of a sudden asphyxia with poor resuscitation facility,psychological stress from unfamiliar home environment,and more challenges in risk identification due to limited conditions for performing home-based intubation procedures;Theme 2 covered the coping strategies of online-scheduled nurses,which included the improvement of knowledge and skills in emergency nursing to improve comfidence and judge ability of intubation,the strengthening of nurse-patient communication to build a trust and cooperation,the conduct of thorough assessment to ensure procedural safety,and the use of alternative tools and collaboration with family members.Conclusion Online appointment nurses face challenges and risks from both of the procedures and patients themselves during home based nasogastric intubation.Hospitals and relevant management should actively implement corresponding strategies,provide training and guidance for online appointment nurses,develop relevant regulations,and improve the management mechanisms of the internet platform to ensure the safety of home based nasogastric intubation for online appointment nurses and improve the quality of the"Internet Plus Nursing Services."

OBJECTIVE To analyze the situation of urinary tract infections(UTIs)in children of different age groups in a health care hospital of Guangxi,and to analyze the detected pathogens and drug resistance rate.METHOD Data on urinary tract infections in children between 2017 and 2023 in Guangxi provincial maternal and child healthcare hospitals were retrospectively analyzed,and children were classified according to age:neonates(≤28 days),infants(＞28 days and ≤1 year),preschoolers(＞1 year and＜6 year)and 6-14 years old.The urina-ry tract infections,pathogen identification and drug resistance rates of major pathogens in children of different age groups were analyzed.RESULTS The pathogens of pediatric UTIs in each group were dominated by gram-negative bacilli(44.16％-67.36％),with the highest percentage of Escherichia coli(21.81％—38.60％),gram-posi-tive infections were dominated by Enterococcus faecium(5.96％—21.40％)and Enterococcus faecalis(4.66％—13.68％),and fungi were dominated by Candida albicans(8.03％-12.75％).Admission to intensive care unit was higher in the neonates group(37.38％,P＜0.001).Urine culture positivity rate was elevated in the 6-14 years age group(31.93％,P＜0.001),with girls being more common(59.47％,P＜0.001).The rate of E.coli resistance to cephalosporins was relative high in urine culture isolates from the infant group(28％—54％).In ad-dition,the resistance rate of Enterococcus faecium from urine to ampicillin was higher in the infant group than that in the preschool children and 6-14 years old groups(P=0.002).CONCLUSIONS The gram-negative bacteri-a were dominant among the pathogens isolated from the children with urinary tract infections and showed certain drug resistance to the commonly used antibiotics.Urinary tract infections are more difficult to diagnose and treat in younger children,and pediatricians should pay more attention to them.

OBJECTIVE To analyze the situation of urinary tract infections(UTIs)in children of different age groups in a health care hospital of Guangxi,and to analyze the detected pathogens and drug resistance rate.METHOD Data on urinary tract infections in children between 2017 and 2023 in Guangxi provincial maternal and child healthcare hospitals were retrospectively analyzed,and children were classified according to age:neonates(≤28 days),infants(＞28 days and ≤1 year),preschoolers(＞1 year and＜6 year)and 6-14 years old.The urina-ry tract infections,pathogen identification and drug resistance rates of major pathogens in children of different age groups were analyzed.RESULTS The pathogens of pediatric UTIs in each group were dominated by gram-negative bacilli(44.16％-67.36％),with the highest percentage of Escherichia coli(21.81％—38.60％),gram-posi-tive infections were dominated by Enterococcus faecium(5.96％—21.40％)and Enterococcus faecalis(4.66％—13.68％),and fungi were dominated by Candida albicans(8.03％-12.75％).Admission to intensive care unit was higher in the neonates group(37.38％,P＜0.001).Urine culture positivity rate was elevated in the 6-14 years age group(31.93％,P＜0.001),with girls being more common(59.47％,P＜0.001).The rate of E.coli resistance to cephalosporins was relative high in urine culture isolates from the infant group(28％—54％).In ad-dition,the resistance rate of Enterococcus faecium from urine to ampicillin was higher in the infant group than that in the preschool children and 6-14 years old groups(P=0.002).CONCLUSIONS The gram-negative bacteri-a were dominant among the pathogens isolated from the children with urinary tract infections and showed certain drug resistance to the commonly used antibiotics.Urinary tract infections are more difficult to diagnose and treat in younger children,and pediatricians should pay more attention to them.

Objective:To explore the clinical characteristics and healthcare burden in patients with McCune-Albright syndrome (MAS).Methods:A cross-sectional study was conducted at the Children′s Hospital, Zhejiang University School of Medicine. Clinical and healthcare burden data were systematically collected through structured questionnaires in 164 children with MAS from February 2022 to May 2023. According to the clinical characteristics, patients were categorized into 3 groups: monosymptomatic, bisymptomatic and trisymptomatic groups. Patients were also divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Comparative analyses of clinical characteristics and healthcare burden were conducted across age, sex, and symptom categories.Results:The cohort comprised 59 males (36.0%) and 105 females (64.0%) with an age of 4.6 (2.0, 7.4) years. Age stratification revealed 117 cases (71.3%) aged 0-<7 years, 29 cases (17.7%) aged 7-<10 years, and 18 cases (11.0%) aged 10-<18 years. Among monosymptomatic (67 cases, 40.9%), the cohort comprised 32 females (47.8%) and 35 males (52.2%), predominantly presenting with fibrous dysplasia (57 cases, 85.1%). This subgroup showed peak prevalence in the 0-<7 years age range (29 cases (50.9%)). The bisymptomatic cohort (56 cases, 34.1%) consisted of 39 females (69.6%) and 17 males (30.4%), predominantly manifesting fibrous dysplasia with skin hyperpigmentation (25 cases, 44.6%). Peak prevalence occurred in the 0-<7 years subgroup(16 cases (64.0%)). The trisymptomatic cohort (41 cases, 25.0%) consisted of 34 females (82.9%) and 7 males (17.1%), with peak prevalence occurring in the 0-<7 years subgroup (36 cases (87.8%)). The diagnostic journey analysis revealed 94 cases (57.3%) required 1-3 referrals, and 34 cases (20.7%) necessitated >3 referrals from symptom onset to definitive diagnosis. Healthcare expenditure analysis revealed 69 families (42.1%) incurred direct medical costs of 10 000-100 000 CNY, with 11 families (6.7%) exceeding >100 000 CNY. Direct non-medical costs reached of 10 000-100 000 CNY for 62 families (37.8%) and >100 000 CNY for 4 families (2.4%). Productivity loss affected 58 families (35.4%) at 10 000-100 000 CNY and 8 families (4.9%) above 100 000 CNY during the study period.Conclusion:MAS requires increased attention to skeletal manifestations, especially in children aged 0-<7 years. Moreover, the significant financial burden on families necessitates a society-wide support system.

Objective To overcome the limitations of existing human respiratory syncytial virus(hRSV)animal models,such as semi-permissiveness and short duration of infection,this study established an IL2rg gene knockout(IL2rg-/-)rat model using TALEN gene editing technology.Methods The animal model was infected with hRSV intranasally.Clinical characteristics,body weight,and temperature changes were observed over the infection period(0～35 days).The total viral loads in respiratory organs,such as the nasal tissue,trachea,and lungs,were measured at various time points(4,11,20,and 35 days post-infection).Pathological analysis was conducted on target organs at the endpoint of observation(35 days post-infection).Changes in peripheral blood T,B,NK,and NKT cells and various cytokines were assessed at various time points(4,20,and 35 days post-infection).Results(1)IL2rg/-knockout rats sustained high viral loads in the nasal cavity upon intranasal inoculation with hRSV.The average peak titer rapidly reached 1 × 1010 copies/g in nasal tissue and 1 × 107 copies/g up to 5 weeks post-infection.(2)However,no significant pathological changes were noted in nasal,tracheal,or lung tissues.(3)An increase was observed in the content of peripheral blood B cells in hRSV-infected IL2rg--rats.(4)IL-6 and MCP-1 were increased in the early stage of infection and then decreased at the end of the observation period.Conclusions This study established a new IL2rg-/-rat model using TALEN technology and found that this model effectively supported high-level replication and long-term infection of hRSV,providing a good basis for antiviral drug screening and in vivo efficacy evaluation of anti-hRSV antibodies.

This study was designed to study the effect and mechanism of dehydroepiandrosterone(DHEA)on diabetic wound healing in mice.High-fat feed combined with streptozotocin was utilized to induce diabetes and full-thickness incisional wounds were made on the back.The mice were randomly divided into normal wound group(NW),diabetic wound group(DW)and DHEA intervention group(DHEA).The wounds were photographed and the wound healing rates were calculated;RT-PCR was used to detect the expression of inflammatory factors in wound tissues and wound macrophages,and the expression of Dicer1 and pentose phosphate pathway(PPP)related factors in wound macrophages.Furthermore,wound macrophages phagocytosis of apoptotic Jurkat cells were measured by flow cytometry.Data showed that the wound healing rate,the expression of inflammatory factors and the phagocytosis rate were similar between the DHEA group and the NW group(P＞0.05);compared with the DW group,the wound healing rate in the DHEA group was accelerated,the expression of TNF-α,IL-6 and IL-1β were decreased,the expression of IL-10 and TGF-β were increased,and the phagocytosis rate was increased(P＜0.01);the expression of Dicer1 in wound macrophages of the DW group was lower than that in the NW group,and the expression of PPP-related factors G6pdx,Taldo1,Pfkl,H6pd,Pgd,Aldoc1 and Tkt were increased(P＜0.01);the expression of Dicer1 between DW group and DHEA group was similar(P＞0.05),and the expression of PPP-related factors G6pdx,Taldo1,Pfkl,H6pd,Pgd,Aldoc1 and Tkt were lower in the DHEA group(P＜0.01).In conclusion,DHEA promotes diabetic wound healing by inhibiting macrophage pentose phosphate pathway activity.

Polycystic ovary syndrome(PCOS)is one of the most common gynecological endocrine disorders.Most pathophysiological changes of PCOS begin in the peripubertal phase,and these pathophysiological changes will continuously affect women's health in the later stages of their lives.The pathogenic mechanisms of PCOS remain unclear,involving key aspects such as the regulation of hypothalamic-pituitary function,ovarian cellular functions,androgen levels,and insulin resistance.Herein,we summarized the latest findings on the pathogenesis of PCOS from the perspectives of the genetic background,intrauterine development,neuroendocrine function,inflammatory factors,gut microbiome,and environmental factors.This review will help provide new ideas for a deeper understanding of the disease,as well as its clinical diagnosis and treatment.