A Case Report of Blau Syndrome / 罕见病研究

Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.

Andrographolide Inhibits Proliferation and Promotes Apoptosis in Bladder Cancer Cells by Interfering with NF- κ B and PI3K/AKT Signaling In Vitro and In Vivo / 中国结合医学杂志

OBJECTIVE@#To explore the influences of andrographolide (Andro) on bladder cancer cell lines and a tumor xenograft mouse model bearing 5637 cells.@*METHODS@#For in vitro experiments, T24 cells were stimulated with Andro (0-40 µmol/L) and 5637 cells were stimulated with Andro (0 to 80 µmol/L). Cell growth, migration, and infiltration were assessed using cell counting kit-8, colony formation, wound healing, and transwell assays. Apoptosis rate was examined using flow cytometry. In in vivo study, the antitumor effect of Andro (10 mg/kg) was evaluated by 5637 tumor-bearing mice, and levels of nuclear factor κ B (NF- κ B) and phosphoinositide 3-kinase/AKT related-proteins were determined by immunoblotting.@*RESULTS@#Andro suppressed growth, migration, and infiltraion of bladder cancer cells (P⩽0.05 or P⩽0.01). Additionally, Andro induced intrinsic mitochondria-dependent apoptosis in bladder cancer cell lines. Furthermore, Andro inhibited bladder cancer growth in mice (P⩽0.01). The expression of p65, p-AKT were suppressed by Andro treatment in vitro and in vivo (P⩽0.05 or P⩽0.01).@*CONCLUSIONS@#Andrographolide inhibits proliferation and promotes apoptosis in bladder cancer cells by interfering with NF- κ B and PI3K/AKT signaling in vitro and in vivo.

An Adolescent with Recurrent Intracranial Hemorrhage, and Skin Lesion / 罕见病研究

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.

Advance in Isokinetic Concept for Rehabilitation Medicine (review) / 中国康复理论与实践

The isokinetic muscle strength test and isokinetic training are considered to be one of the most important practical techniques for muscle assessment and training. This paper reviewed the specific applications of isokinetic concept in rehabilitation assessment and rehabilitation treatment in recent years, introduced the effects of isokinetic concept on neurological diseases, orthopaedic diseases and other diseases, briefly analyzed the related mechanism and summarized its advantages.

Clinical Profile and Significance of Mucocutaneous Lesions of Primary Sjögren's Syndrome: A Large Cross-sectional Study with 874 Patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Mucocutaneous lesions are common features of primary Sjögren's syndrome (pSS), but only a few studies have focused on them. To demonstrate the profile of mucocutaneous lesions of pSS and further explore their potential clinical significance, we performed a cross-sectional study on 874 patients.</p><p><b>METHODS</b>Demographic data, clinical manifestations, and laboratory results of 874 pSS patients were collected. Patients were divided into two groups according to the presence of mucocutaneous lesions. Differences in primary symptoms and systemic impairments between the two groups were analyzed. Results of laboratory tests were also compared after excluding those who had taken corticosteroid from both groups. One-year follow-up was done, and occurrences of various new complications were compared.</p><p><b>RESULTS</b>Among the 874 pSS patients, 181 patients had mucocutaneous lesions, accounting for 20.7%. Multiple mucocutaneous manifestations were displayed, and the top four most common types of lesions were purpuric eruptions (39.8%), urticaria (23.8%), Raynaud's phenomenon (14.9%), and angular stomatitis (9.9%). Incidences of pulmonary interstitial fibrosis, pulmonary bullae, leukopenia, and anemia were significantly higher among patients with mucocutaneous lesions (P < 0.05). Increase in IgG and decrease in C4 among patients with mucocutaneous lesions displayed statistical significance after excluding patients from both groups who had taken corticosteroid (P < 0.05). After one-year follow-up, patients with mucocutaneous lesions presented a slightly higher incidence of new complications compared to those without.</p><p><b>CONCLUSIONS</b>Mucocutaneous manifestations of pSS patients were common and diverse. Patients with mucocutaneous manifestations had more systemic damages, higher level of IgG, and lower level of serum C4, suggesting a higher activity of the primary disease.</p>

Clinical Characteristics of 65 Male Patients with Sj(o)gren's Syndrome / 医学研究杂志

Objective To analyze the different clinical features and system lesions of female and male primary Sj(o)gren's syndrome (pSS) patients and to attract more attention to male pSS patients' pathogenic features.Methods Clinical information of pSS patients was gathered and physicochemical tests were conducted.The clinical features of female and male patients were summarized and analyzed.Results 935 pSS cases were collected,among which 65 cases were male.The male-female ratio was 0.7∶ 10.The man's median duration of diagnosis was 10 months,with a median duration of 36 months,compared with women's time (P ＜ 0.05).There were significant statistical differences between both the dry mouth and dry eyes occurrence rate of female and male patients (P ＜ 0.05).In ophthalmic Schirmer tests,440 female patients and 8 male presented abnormal results (P ＜ 0.05).For labial gland biopsy,the positive rate of male patients was much higher than that of the female (P ＜ 0.05).The incidence of lymphadenectasis of male patients was 16.9％,which was higher than that of female patients (5.2％),presenting statistical significance (P ＜ 0.05).As regards pSS system lesions,54.48％ of the female presenting presented system lesions,while this rate for male patients was only 36.92％;the rate of multiple system lesions for female and male patients was 10.8％ and 3％ (P ＜ 0.05).The incidence of lymphadenectasis of male patients was higher than that of female patients (P ＜ 0.05).As regards pSS system lesions,the incidence of multiple system involvement was low(P ＜ 0.05).Conclusion The incidence of male pSS is significantly lower than that of female.Dry mouth dryness is lower than that of female,and there is no difference in digestive,respiratory,urinary and nervous system involvement.