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 diagnostic value of routine magnetic resonance imaging (MRI) findings for early detection of dural arteriovenous fistulas (DAVF).Methods:A retrospective collection of 53 patients with DAVF confirmed by digital subtraction angiography (DSA) at the Affiliated Hospital of Qingdao University from September 2018 to June 2023 was conducted. All patients underwent routine non-enhanced and enhanced MRI scans before treatment, with 30 patients also receiving magnetic resonance angiography (MRA) examination. Medical records were reviewed, and basic patient information, clinical symptoms, and imaging markers [pial venous engorgement (PVE), cerebral hemorrhage, subarachnoid hemorrhage, vasogenic edema, venous infarction, medullary veins engorgement (MVE), parenchymal enhancement, encephalopathy mimics] were recorded. The Cognard grading was carried out in accordance with the manifestations shown by DSA.Results:Seventy-seven percent (41/53) of patients exhibited PVE on the brain surface, with 95% (39/41) of these cases showing localized PVE on one hemisphere or even within a single brain lobe. Approximately 64% (34/53) of these PVEs were detectable on conventional T 2-weighted imaging. Among the 30 patients who underwent MRA, only 50% (15/30) showed evidence of PVE on both T 2WI and MRA, while an additional 23% (7/30) had PVE only on MRA. About 38% (20/53) of patients presented with isolated vasogenic edema, with 70% (14/20) of these cases demonstrating PVE on T 2WI. Twenty-six percent (14/53) of patients had intracranial hemorrhage, and 11 of these patients demonstrated positive signs of PVE. Parenchymal enhancement was primarily observed in subarachnoid structures in 11% (6/53) of patients, with 5/6 showing PVE on the brain surface or spinal cord surface. Venous infarction (4%, 2/53) and MVE (4%, 2/53) were more commonly seen in high Cognard grade DAVF, whereas encephalopathy mimics (4%, 2/53) were frequently encountered in low Cognard grade DAVF. Conclusions:PVE on the brain surface is a direct sign for the diagnosis of DAVF on routine MRI, yet it is often subtle. Familiarity with common indirect signs is of great importance for the early diagnosis of DAVF.

Objective To evaluate the association between cervical insufficiency(CI)and spontaneous preterm birth(SPB),and to investigate the predictive value of shear wave elastography(SWE),cervical length(CL),and anterior cervical angle(ACA)in identifying SPB resulting from CI.Methods This study recruited 786 pregnant women who attended prenatal outpatient clinics or were hospitalized for treatment at the Affiliated Hospital of Nantong University and the Maternity Hospital affiliated with Jiangnan University from June 2023 to January 2024.Among these participants,723 were full-term pregnancies and 63 were preterm pregnancies.Cervical SWEI,CL,and cervical ACA were measured using a Mindray Resona R9 Pro/Eagus R9s ultrasound device equipped with shear wave elasticity imaging software.Additionally,the participants were categorized into four gestational age groups:19-23+6 weeks,24-27+6 weeks,28-33+6 weeks,and 34-36+6 weeks,to evaluate the relationship between gestational age and ultrasound parameters.Results The mean CL in the preterm group was 25.4 mm,significantly shorter than the 29.7 mm observed in the full-term group(P<0.001).The ACA in the preterm group was 121°,which was significantly higher than the 99° in the full-term group(P<0.001).Additionally,SWE values were significantly lower in the preterm group compared to the full-term group at all measured cervical sites:anterior external os(AE)6.47 kPa versus 9.91 kPa(P<0.001),anterior internal os(AI)10.98 kPa versus 18.62 kPa(P<0.001),posterior internal os(PI)11.32 kPa versus 21.09 kPa(P<0.001),and posterior external os(PE)8.16 kPa versus 13.24 kPa(P<0.001).A significant negative correlation was found between CL and gestational age(r=-0.278,P=0.001).The combined predictive indicators demonstrated high accuracy and specificity for predicting preterm birth,with an area under the curve(AUC)of 0.952,sensitivity of 95%,and specificity of 86%.Conclusions The integration of cervical SWE,CL measurement,and assessment of the angle of ACA can substantially enhance the predictive accuracy for SPB due to CI.This multimodal approach offers clinicians a more robust and precise tool for identifying high-risk pregnancies,enabling timely interventions that can reduce the incidence of preterm birth and improve maternal and neonatal outcomes.

Objective To compare the clinical pregnancy outcomes of tamoxifen(TAM),TAM combined with intrauterine perfusion of platelet-rich plasma(PRP),and hormone replacement therapy(HRT)combined with intrauterine perfusion of PRP for frozen-thawed embryo transfer(FET)in patients with thin endometrium.Methods A retrospective analysis was performed on clinical data of 321 patients with thin endometrium(endome-trial thickness≤7 mm in previous cycles)who underwent FET at the Reproductive Medicine Center of Guangdong Provincial Reproductive Hospital from January 2023 to April 2025.According to the treatment protocols,the patients were divided into three groups:TAM group(Group A,n=98),TAM+PRP group(Group B,n=91),and HRT+PRP group(Group C,n=132).General information,endometrial thickness on the conversion day before and after treatment,clinical pregnancy outcomes,andcosts of endometrial preparation treatment were com-pared among the three groups.Results There were no significant differences in age,duration of infertility,type of infertility,anti-Müllerian hormone(AMH)level,basal follicle-stimulating hormone(FSH)among the three groups(P>0.05).After treatment,there were no significant differences in endometrial thickness on the conversion day or the extent of increase among the three groups(P>0.05).The clinical pregnancy rates in Group A,Group B,and Group C were 56.1%,51.6%,and 43.2%respectively,with a significant difference(P=0.011);the embryo implantation rates were 43.6%,45.5%,and 34.6%respectively,showing a significant difference(P=0.019).The early abortion rate in Group A(3.64%)was significantly lower than that in Group C(15.79%)(P<0.01).In terms of treatment cost of endometrial preparation treatment,the cost in Group A(676.5±494.5 Yuan)was significantly lower than that in Group B(2 401.2±764.2 Yuan)and Group C(3 093.8±758.3 Yuan)(P<0.01).Conclusion In FET cycles for patients with thin endometrium,the clinical outcomes of TAM,TAM+PRP and HRT+PRP are comparable,and TAM demonstrates advantages in terms of a lower early miscarrage rate and better cost-effectiveness,thus serving as an option for endometrial preparation in patients with thin endometrium.

Objective To evaluate the association between cervical insufficiency(CI)and spontaneous preterm birth(SPB),and to investigate the predictive value of shear wave elastography(SWE),cervical length(CL),and anterior cervical angle(ACA)in identifying SPB resulting from CI.Methods This study recruited 786 pregnant women who attended prenatal outpatient clinics or were hospitalized for treatment at the Affiliated Hospital of Nantong University and the Maternity Hospital affiliated with Jiangnan University from June 2023 to January 2024.Among these participants,723 were full-term pregnancies and 63 were preterm pregnancies.Cervical SWEI,CL,and cervical ACA were measured using a Mindray Resona R9 Pro/Eagus R9s ultrasound device equipped with shear wave elasticity imaging software.Additionally,the participants were categorized into four gestational age groups:19-23+6 weeks,24-27+6 weeks,28-33+6 weeks,and 34-36+6 weeks,to evaluate the relationship between gestational age and ultrasound parameters.Results The mean CL in the preterm group was 25.4 mm,significantly shorter than the 29.7 mm observed in the full-term group(P<0.001).The ACA in the preterm group was 121°,which was significantly higher than the 99° in the full-term group(P<0.001).Additionally,SWE values were significantly lower in the preterm group compared to the full-term group at all measured cervical sites:anterior external os(AE)6.47 kPa versus 9.91 kPa(P<0.001),anterior internal os(AI)10.98 kPa versus 18.62 kPa(P<0.001),posterior internal os(PI)11.32 kPa versus 21.09 kPa(P<0.001),and posterior external os(PE)8.16 kPa versus 13.24 kPa(P<0.001).A significant negative correlation was found between CL and gestational age(r=-0.278,P=0.001).The combined predictive indicators demonstrated high accuracy and specificity for predicting preterm birth,with an area under the curve(AUC)of 0.952,sensitivity of 95%,and specificity of 86%.Conclusions The integration of cervical SWE,CL measurement,and assessment of the angle of ACA can substantially enhance the predictive accuracy for SPB due to CI.This multimodal approach offers clinicians a more robust and precise tool for identifying high-risk pregnancies,enabling timely interventions that can reduce the incidence of preterm birth and improve maternal and neonatal outcomes.

Objective To compare the clinical pregnancy outcomes of tamoxifen(TAM),TAM combined with intrauterine perfusion of platelet-rich plasma(PRP),and hormone replacement therapy(HRT)combined with intrauterine perfusion of PRP for frozen-thawed embryo transfer(FET)in patients with thin endometrium.Methods A retrospective analysis was performed on clinical data of 321 patients with thin endometrium(endome-trial thickness≤7 mm in previous cycles)who underwent FET at the Reproductive Medicine Center of Guangdong Provincial Reproductive Hospital from January 2023 to April 2025.According to the treatment protocols,the patients were divided into three groups:TAM group(Group A,n=98),TAM+PRP group(Group B,n=91),and HRT+PRP group(Group C,n=132).General information,endometrial thickness on the conversion day before and after treatment,clinical pregnancy outcomes,andcosts of endometrial preparation treatment were com-pared among the three groups.Results There were no significant differences in age,duration of infertility,type of infertility,anti-Müllerian hormone(AMH)level,basal follicle-stimulating hormone(FSH)among the three groups(P>0.05).After treatment,there were no significant differences in endometrial thickness on the conversion day or the extent of increase among the three groups(P>0.05).The clinical pregnancy rates in Group A,Group B,and Group C were 56.1%,51.6%,and 43.2%respectively,with a significant difference(P=0.011);the embryo implantation rates were 43.6%,45.5%,and 34.6%respectively,showing a significant difference(P=0.019).The early abortion rate in Group A(3.64%)was significantly lower than that in Group C(15.79%)(P<0.01).In terms of treatment cost of endometrial preparation treatment,the cost in Group A(676.5±494.5 Yuan)was significantly lower than that in Group B(2 401.2±764.2 Yuan)and Group C(3 093.8±758.3 Yuan)(P<0.01).Conclusion In FET cycles for patients with thin endometrium,the clinical outcomes of TAM,TAM+PRP and HRT+PRP are comparable,and TAM demonstrates advantages in terms of a lower early miscarrage rate and better cost-effectiveness,thus serving as an option for endometrial preparation in patients with thin endometrium.

Objective:To explore the diagnostic value of routine magnetic resonance imaging (MRI) findings for early detection of dural arteriovenous fistulas (DAVF).Methods:A retrospective collection of 53 patients with DAVF confirmed by digital subtraction angiography (DSA) at the Affiliated Hospital of Qingdao University from September 2018 to June 2023 was conducted. All patients underwent routine non-enhanced and enhanced MRI scans before treatment, with 30 patients also receiving magnetic resonance angiography (MRA) examination. Medical records were reviewed, and basic patient information, clinical symptoms, and imaging markers [pial venous engorgement (PVE), cerebral hemorrhage, subarachnoid hemorrhage, vasogenic edema, venous infarction, medullary veins engorgement (MVE), parenchymal enhancement, encephalopathy mimics] were recorded. The Cognard grading was carried out in accordance with the manifestations shown by DSA.Results:Seventy-seven percent (41/53) of patients exhibited PVE on the brain surface, with 95% (39/41) of these cases showing localized PVE on one hemisphere or even within a single brain lobe. Approximately 64% (34/53) of these PVEs were detectable on conventional T 2-weighted imaging. Among the 30 patients who underwent MRA, only 50% (15/30) showed evidence of PVE on both T 2WI and MRA, while an additional 23% (7/30) had PVE only on MRA. About 38% (20/53) of patients presented with isolated vasogenic edema, with 70% (14/20) of these cases demonstrating PVE on T 2WI. Twenty-six percent (14/53) of patients had intracranial hemorrhage, and 11 of these patients demonstrated positive signs of PVE. Parenchymal enhancement was primarily observed in subarachnoid structures in 11% (6/53) of patients, with 5/6 showing PVE on the brain surface or spinal cord surface. Venous infarction (4%, 2/53) and MVE (4%, 2/53) were more commonly seen in high Cognard grade DAVF, whereas encephalopathy mimics (4%, 2/53) were frequently encountered in low Cognard grade DAVF. Conclusions:PVE on the brain surface is a direct sign for the diagnosis of DAVF on routine MRI, yet it is often subtle. Familiarity with common indirect signs is of great importance for the early diagnosis of DAVF.

Objective:To investigate the clinical characteristics of psoriasis and status quo of medical care for patients in county areas of China.Methods:This study was a cross-sectional investigation. Based on the “Qianxian Wuyin” Project (a national project for upgrating ability for psoriasis care at county level), an online questionnaire survey was conducted in the dermatology departments of 459 county hospitals in 404 pilot administrative counties across China from February to June 2023. The questionnaire included demographic information of patients (gender, ethnicity, age, place of residence, education, marital status), and clinical characteristics of psoriasis (disease course, type, comorbidities, body surface area (BSA) and previous treatment. The Dermatology Life Quality Index (DLQI) and Psoriasis Area and Severity Index (PASI) were applied for assessing the quality of life and disease severity, and completed by patients or guardian and doctors, respectively.Results:A total of 16 935 patients completed the questionnaire. The age of patients was 1-102(44.17±11.58)years, and 71.0% (12 036/16 935) were 30-59 years old. The ratio of male to female was 2.21∶1; 24.3%(4 117/16 935) of patients had high school education; there were 9 940 patients(58.7%) with previous or current smoking and/or alcohol use; 42.8%(7 218/16 855) of patients had a disease course of 1-5 years. There were 15 630 patients(92.3%) with DLQI≥10, 8 346 patients(49.7%) with PASI≥10, 15 017 patients(89.2%) with BSA≥10%. The plaque type was the most common disease type ( n=14 965, 88.7%), and spotting type ranked the second ( n=1 141, 6.8%). The most common initial site was the trunk ( n=12 309, 72.9%). Among the comorbidities, hypertension was the most common one ( n=1 681, 10.0%). There were 7 650 reports of treatment response to conventional topical drug therapy and 3 112 reports of treatment response to systemic drug therapy, with 6 269 (81.9%) and 2 493 (80.1%) reporting poor or no response, respectively. Conclusions:The survey shows that in the county areas of China, the majority of psoriasis patients are severe patients with short course of disease, plaque type is the most common type, and hypertension is the most common comorbidity; and the conventional treatment is less effective for most patients.

Background::Pathological scars are a disorder that can lead to various cosmetic, psychological, and functional problems, and no effective assessment methods are currently available. Assessment and treatment of pathological scars are based on cutaneous manifestations. A two-photon microscope (TPM) with the potential for real-time non-invasive assessment may help determine the under-surface pathophysiological conditions in vivo. This study used a portable handheld TPM to image epidermal cells and dermal collagen structures in pathological scars and normal skin in vivo to evaluate the effectiveness of treatment in scar patients. Methods::Fifteen patients with pathological scars and three healthy controls were recruited. Imaging was performed using a portable handheld TPM. Five indexes were extracted from two dimensional (2D) and three dimensional (3D) perspectives, including collagen depth, dermo-epidermal junction (DEJ) contour ratio, thickness, orientation, and occupation (proportion of collagen fibers in the field of view) of collagen. Two depth-dependent indexes were computed through the 3D second harmonic generation image and three morphology-related indexes from the 2D images. We assessed index differences between scar and normal skin and changes before and after treatment.Results::Pathological scars and normal skin differed markedly regarding the epidermal morphological structure and the spectral characteristics of collagen fibers. Five indexes were employed to distinguish between normal skin and scar tissue. Statistically significant differences were found in average depth ( t = 9.917, P <0.001), thickness ( t = 4.037, P <0.001), occupation ( t= 2.169, P <0.050), orientation of collagen ( t = 3.669, P <0.001), and the DEJ contour ratio ( t = 5.105, P <0.001). Conclusions::Use of portable handheld TPM can distinguish collagen from skin tissues; thus, it is more suitable for scar imaging than reflectance confocal microscopy. Thus, a TPM may be an auxiliary tool for scar treatment selection and assessing treatment efficacy.