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.

Fire-needle Acupuncture Intervention Relieves Ankle-joint Inflammatory Reactions Possibly by Down-regulating Serum TNF-α and Anti-cyclic Citrullinated Peptide Antibody Levels in Collagen-induced Arthritis Rats / 针刺研究

OBJECTIVE: To observe the effect of fire-needle acupuncture of "Zusanli" (ST 36) and "Kunlun" (BL 60) on ankle-joint swelling and serum tumor necrosis factor-α (TNF-α) and anti-cyclic citrullinated peptide antibody (ACPA) contents in collagen-induced arthritis (CIA) rats, so as to study its mechanism underlying improvement of rheumatoid arthritis (RA)．. METHODS: Thirty-two male Wistar rats were randomized into control, model, medication (Methotrexate) and fire-needling groups (n＝8 in each). The RA model was established by injecting type Ⅱ chicken collagen (0.1 mol/L) plus Freund's complete adjuvant (primary immunization) and Freund's incomplete adjuvant (immunization once more) into the subcutaneous tissues of the right foot bottom, back and tail root of rats. Fire-needling was applied to the left and right "Zusanli" (ST 36) and "Kunlun" (BL 60) alternatively for 3 times in each acupoint, once daily for 10 days. For rats of the medication group, Methotrexate sodium chloride solution (0.1 mg/100 g) was administrated by gavage, once every 5 days, twice together. The rats' right hind ankle diameter was measured before and after the treatment. The X-ray film of the right ankle was taken, and the contents of serum TNF-α and ACPA were assayed by ELISA. RESULTS: The ankle diameter and serum concentrations of TNF-α and ACPA were significantly increased in the model group compared to the control group (P0.05). CONCLUSION: Fire-needling stimulation of ST 36 and BL 60, similar to Methotrexate, can relieve the inflammatory reactions of hind-ankle joint in CIA rats, which may be related to its effect in down-regulating ACPA and TNF-α levels.

Histiocytic necrotizing lymphadenitis characterized by fever and joint pain:a case report / 中国感染控制杂志

A 27-year-old woman was admitted to a hospital due to intermittent fever for 20+ days and swelling pain in knee joint for 7 days.Patients was with persistent fever,the highest temperature to 40.1°C,the double knee joint swelling pain,a large number of scattered red needle-like rash were visible on bilateral hands and legs,lymph-adenectasis,splenectasis,bilateral hands interphalangeal joint and knee joint swelling pain,lymph nodes were con-fined to the bilateral axillary with soft texture,local tenderness,and good activity.Pathological results of left axil-lary lymph node showed the following finding:fragmental lymph node tissue with incomplete structure,lymphoid follicles existed,there were diffuse histocytes,immunoblasts,and a few small lymphocytes proliferation in the re-duced or disappeared area of follicular,caryokinesis could be easily seen,there were patches of necrosis foci with varied size,nucleus disintegrated,fibrinoid necrosis blood vessel with bleeding could be seen.Immunohistochemical detection showed the following results:CD3 (diffuse +);CD20 (follicular +);CD79α(follicular +);CD68 (+);EMA (-);ALK (-);CD15 (a small amount of cells +);CD30 (+),CD4 (-),CD5 (+);CD10 (-);bcl-2 (+);CD21 (+);telomerase B (-);TIA-1 (-);EBV(-)Ki-67 (+).Through a combination of clinical and immunohistochemical detection results,the diagnosis of histiocytic necrotizing lymphadenitis was made.Patient discontinued antimicrobial drugs,after she was treated with 5% glucose 100 mL + hydrocortisone sodium succinate 200 mg intravenous drip for 3 days,patients had no fever,axillary lymph node gradually dwindled.Then patients was treated with methylprednisolone 8 mg/d,twice a day,reduced 1 tablet every two weeks,and stopped eventual-ly.Patients was followed up for two years,repeated examination of blood routine,liver and kidney function were in the normal range,bilateral knee didn’t swell,could walk freely,there appeared no enlargement of lymph node.

Approach to a child with monoarthritis.

Abstract Arthritis in childhood is common. The pattern, presentation and duration of arthritis help differentiate between the various possible diagnoses. When only one joint is involved, i.e., monoarthritis, it may be difficult to make a diagnosis as there are many possibilities both acute and chronic in nature. A detailed history and clinical examination is important to reach a correct diagnosis and the single most important investigation when a child presents acutely is a joint aspiration to rule out septic arthritis that may destroy the joint in hours. Inflammatory markers, antinuclear antibody testing, test for tuberculosis and imaging (in specific cases) play an important role in the diagnosis of a child that presents with a chronic monoarthritis. In this article we provide a clinical approach to the diagnosis of monoarthritis in a child.

Study on establishing type Ⅱ collagen induced arthritis model in rats / 中国免疫学杂志

Objective:Research on establishing a better experimental arthritis rat model of cold-dampness arthraligia on rheumatoid arthritis(RA) research.Methods:In order to induce arthritis,the rat's feet were injected with different concentrations of type Ⅱ collagen mixed with Freund's adjuvant;measure the feet swelling degrees of rats,then calculated swelling rate;detect the level of serum sialic acid(SA);observ the synovial histopathology and ultrastructural of rats.Results:The rat joints swell of the group with low concentration of type Ⅱ collagen and completed Freund's adjuvant was rapid and severe,while that of the group with high concentration of type Ⅱ collagen and incompleted Freund's adjuvant was moderate and lasting.The level of serum SA of model groups was higher than the normal group.The histopathology changes of rat's synovium conform to RA.Conclusion:The group injected with high concentration of type Ⅱ collagen and incompleted Freund's adjuvant is the ideal RA model.It is belonged to the symptom of cold-dampness arthralgia,compared with this model,the AA approaches the symptom of heat-dampness arthralgia.