A 51-year-old male presented with nasal obstruction, followed by progressive hearing loss and blurred vision. Imaging identified space-occupying lesions in the paranasal sinuses, orbits, and paraspinal regions, while laboratory tests confirmed positive anti-proteinase 3 anti-neutrophil cytoplasmic antibody(PR3- ANCA) immunoglobulin G (IgG)and markedly elevated serum IgG4. Despite treatment with corticosteroids, immunosuppressants, and radiotherapy, the patient exhibited steroid dependency with relentless disease progression. Following multidisciplinary consultation, a diagnosis of inflammatory myofibroblastic tumor (IMT) coexisting with ANCA- associated vasculitis (AAV) was favored, though IgG4-related disease remained a critical differential. Ultimately, profound immunosuppression precipitated a severe herpesvirus infection, leading to disseminated intravascular coagulation and multiple organ dysfunction syndrome. This case underscores the rarity and diagnostic complexity of concurrent IMT and AAV, highlights the therapeutic dilemma of balancing primary disease control against fatal opportunistic infections, and emphasizes the critical role of multidisciplinary collaboration in the diagnosis and treatment of complex diseases.

OBJECTIVE: To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture. METHODS: Ethnic Miao people suspected for thalassemia trait at the People's Hospital of Qianxinan Prefecture, Guizhou Province between November 2020 to September 2024 were selected as the study subjects. Gap-PCR technology combined with high-throughput sequencing was used to screen a total of 666 individuals. ArcMap v10.8.2 was used to create a spatial distribution map of thalassemia based on the screening results. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2016-01). RESULTS: In total 254 positive cases were detected, with an overall positive rate of 38.14%. Among these, 173 cases were α-thalassemia (25.98%), 77 cases were β-thalassemia (11.56%), and 4 cases were αβ compound thalassemia (0.60%). The most common genotypes for α-thalassemia were αα/--^SEA (positive rate = 10.06%, accounting for 38.73%), αα/-α^3.7 (positive rate = 8.86%, accounting for 34.10%), and α^CSα/αα (positive rate = 4.95%, accounting for 19.08%). The most common genotypes for β-thalassemia were β^41/42(-TTCT)/β^A (positive rate = 5.11%, accounting for 44.16%) and β^{17 (A>T)}/β^A(positive rate = 4.20%, accounting for 36.36%), with these two genotypes accounting for as much as 80.52%. The spatial distribution map indicated that the highest overall detection rate of thalassemia and α-thalassemia in the Miao population of Qianxinan Prefecture was in Xingyi City. The highest detection rate of β-thalassemia was in Zhenfeng County, and the highest detection rate of αβ compound thalassemia was in Wangmo County. CONCLUSION The detection rate of thalassemia among the ethnic Miaos from Qianxinan Prefecture is relatively high, which primarily consisted of α-thalassemia. Regular monitoring and educational outreach should be conducted.
Humans ; China/ethnology* ; Female ; Male ; Genetic Testing ; Adult ; alpha-Thalassemia/genetics* ; Thalassemia/ethnology* ; Ethnicity/genetics* ; Genotype ; beta-Thalassemia/ethnology* ; Adolescent ; Mutation ; Middle Aged ; Child ; Asian People/genetics* ; Young Adult

Iron is indispensable for the viablility of nearly all living organisms, and it is imperative for cells, tissues, and organisms to acquire this essential metal sufficiently and maintain its metabolic stability for survival. Disruption of iron homeostasis can lead to the development of various diseases. There is a robust connection between iron metabolism and infection, immunity, inflammation, and aging, suggesting that disorders in iron metabolism may contribute to the pathogenesis of arthritis. Numerous studies have focused on the significant role of iron metabolism in the development of arthritis and its potential for targeted drug therapy. Targeting iron metabolism offers a promising approach for individualized treatment of arthritis. Therefore, this review aimed to investigate the mechanisms by which the body maintains iron metabolism and the impacts of iron and iron metabolism disorders on arthritis. Furthermore, this review aimed to identify potential therapeutic targets and active substances related to iron metabolism, which could provide promising research directions in this field.

AIM:To investigate the role of phosphoenolpyruvate carboxykinase 1(PCK1)in the proliferation and migration of mouse vascular smooth muscle cells(VSMCs)and the underlying mechanism.METHODS:The prolif-eration and migration of mouse VSMCs were induced by platelet-derived growth factor(PDGF)-BB.The cells were divided into a vehicle group and a PDGF-BB group.The expression of PCK1 was detected by Western blot and immunofluores-cence staining.The mouse Pck1 siRNA(si Pck1)were transfected into mouse VSMCs to silence PCK1.The cells were di-vided into the vehicle,si Pck1+vehicle,PDGF-BB and si Pck1+PDGF-BB groups.The protein level of PCK1 was detected by Western blot.The proliferation was explored by Ki-67 immunofluorescence staining and the viability was detected by CCK-8 assay.The migration was determined by a scratch test.Mitochondrial dynamics were observed via transmission electron microscopy.A lentivirus carrying dynamin-related protein 1(Drp1)gene(lenti-Drp1)was transfected into VSMCs to induce them to overexpress DRP1.The cells were divided into the PDGF-BB,si Pck1+PDGF-BB,lenti-Drp1+PDGF-BB and lenti-Drp1+si Pck1+PDGF-BB groups.Proliferation,migration and mitochondrial dynamics were measured as described above.RESULTS:PDGF-BB increased the protein expression of PCK1 and DRP1,cell viability,the per-centage of Ki-67-positive cells,the wound healing rate and mitochondrial division in VSMCs.These effects were sup-pressed when PCK1 protein expression was silenced.After DRP1 was overexpressed,the inhibitory effects of PCK1 silenc-ing on cell viability,the percentage of Ki-67-positive cells,the wound healing rate and mitochondrial division were signifi-cantly reversed.CONCLUSION:PCK1 promotes the mitochondrial division,proliferation and migration of VSMCs in mice by upregulating the expression of DRP1.

Objective To explore the surgical techniques and experiences in the treatment of Peyronie's disease using electric rotary grinding of tunica albuginea plaques followed by graft repair with tunica vaginalis or bovine pericardium under a microscope.Methods A retrospective cohort study was performed on 21 patients with severe penile curvature due to Peyronie's disease admitted in our department from January 2021 and May 2023.All of them underwent microscopic electric rotary grinding of tunica albuginea plaques followed by graft repair surgery.Short-term and mid-term outcomes were observed.Results For the 21 enrolled patients,12(57.1％)underwent repair using unilateral tunica vaginalis,3(14.3％)underwent repair using bilateral tunica vaginalis,and 6(28.6％)underwent repair using bovine pericardium.The operation time was 170～385(average 272±69)min,and the average postoperative follow-up duration was3～24(average 12.1±7.2)months.Seventeen patients(81.0％)had their penis fully extended,while 4 patients(19.0％)had slight dorsal curvature,which was less than 10°.All patients were satisfied with the shape of their penis during erection.The change in penile length was+(1.1±0.5)cm,and 9 patients(42.9％)reported early postoperative penile head numbness,which spontaneously resolved after an average duration of 3.2±1.9 months.All patients were able to successfully engage in sexual activity,with an average penile erection hardness score of 3.8.The overall satisfaction rate was 90.5％post operatively.Conclusion Meticulous dissection of Buck's fascia under a microscope is advantageous in reliably preserving dorsal neurovascular structures.Application of an electric grinding drill for plaque ablation allows for more precise release of the tunica.Graft repair of tunica albuginea defects with testicular tunica vaginalis or bovine pericardium for Peyronie's disease yields overall favorable clinical outcomes and obtains high satisfaction.It is worthy of promotion in clinical practice.

Objective:To analyze the thalassemia screening and genotyping in Southwest Guizhou Autonomous Prefecture (referred it as Qianxinan Prefecture), this essay provides the theoretical reference for clinical diagnosis of thalassemia and suspicious cases.Methods:The pregnant women, spouses and neonates who were screened for thalassemia gene in Qian Xi Nan People's Hospital from January 2016 to December 2020 were selected as the research subjects, and peripheral blood or umbilical cord blood samples were collected to extract DNA. The gap-polymerase chain reaction (Gap-PCR) and next-generation sequencing (NGS) technology were used to screen thalassemia, and ArcMap 10.8 software was adopted to map the local spatial distribution of thalassemia based on the screening data.Results:A total of 67 185 cases of people from various regions in Qianxinan Prefecture were screened, and 8 202 cases of thalassemia gene carriers were detected, with a total detection rate of 12.21%. Among them, 5 660 cases of α-thalassemia, with a detection rate of 8.42%; 2 132 cases of β-thalassemia, with a detection rate of 3.17%; 410 cases of αβ complex thalassemia, with a detection rate of 0.61%. In the detection of thalassemia genes, 27 genotypes of α-thalassemia were detected, mainly αα/-α 3.7, accounting for 41.13% (2 328/5 660); 33 genotypes of β-thalassemia were detected, mainly β CD17(A>T)/β A, accounting for 44.09% (940/2 132); 55 genotypes of αβ complex thalassemia were detected, and αα/-α 3.7 complexed β CD17(A>T)/β A dominated, accounting for 21.22% (87/410). There were high incidence areas in the spatial distribution of thalassemia, which were Wangmo County and Ceheng County, and the detection rate was 26.76% (1 438/5 374), 24.39% (1 314/5 387), respectively. Conclusions:The detection rate of thalassemia gene in Qianxinan Prefecture is relatively high, mainly αα/-α 3.7 genotype of α-thalassemia. Wangmo County and Ceheng County are high-incidence areas of thalassemia, and screening efforts should be continued.

We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.

Objective: Isolated cortical venous thrombosis (ICoVT) has a low incidence and is easily to be misdiagnosed. The clinical characteristics, diagnosis and treatment of three cases of ICoVT were analyzed in order to improve the level of diagnosis and treatment. Methods: The clinical manifestations, examination, imaging and pathological features of three patients with ICoVT admitted to our hospital were retrospectively analyzed. Results: All the three patients had acute onset. The main symptoms were headache, seizures, numbness of one limb and mental disorders. Intracranial pressure was normal. Brain magnetic resonance imaging (MRI) showed abnormal signals located in cortical sulcus and subcortex. Point and linear hypointensity could be seen on T_2* or susceptibility weighted imaging (SWI) -weighted image. Digital subtraction angiography was performed in one case, showing occlusion of cortical veins. Protein S decreased in two patients, two patients with hyperhomocysteinemia and one patient with antiphospholipid antibody syndrome. The clinical and imaging manifestations of three patients were spontaneously alleviated. Brain biopsy was performed in two patients, and meningeal biopsy was performed in one patient due to significant meningeal thickening. Conclusions The clinical manifestations and routine MRI of ICoVT lack specificity and are easy to be misdiagnosed. However, ICoVT patients are often associated with risk factors for thrombophilia. T_2* or SWI sequences are sensitive to the diagnosis of ICoVT. Brain biopsy has implications for the diagnosis and it is helpful for differential diagnosis, but the indications should be strictly controlled.

Objective To investigate the significance of superb microvascular imaging (SMI) for the detection of neovascularization in carotid atherosclerotic plaques.Methods SMI detected 28 carotid atherosclerotic plaques in 28 patients who underwent carotid endarterectomy.The SMI grade of carotid plaque neovascularization was assigned based on the following grading system:Grade 0,no neovascularization;grade 1,some neovascularization;grade 2,neovascularization observed in the shoulder of the plaque;and grade 3,widely distributed new blood vessels.SMI was used to evaluate the degree of blood flow,maximum flow velocity,and resistance index of the new vessels in the plaque.Microvascular density was measured with CD31 staining.Results Clear correlations were observed between neovascularization density on histopathological staining of the plaque and the degree of blood flow detected with SMI (rs=0.788,P ＜ 0.001).The classification of neovascular blood flow in the plaque was positively correlated with plaque thickness (rs=0.686,P=0.002).Of the 28 cases,neovascularization was detected in 23;of these 23 cases,the direction of blood flow was from the adventitia to the intima in 17 (75％) cases,while 6 (25％) cases showed an irregular direction of blood flow.The mean neovascular flow velocity was (5.620±0.131) cm/s,and the mean neovascular resistance index was 0.660 ± 0.090.Conclusion SMI is useful for the evaluation of carotid atherosclerotic plaque neovascularization.