This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective To analyze the clinical features of neurobrucellosis manifested as cerebrovascular diseases and explore the possible pathogenesis.Methods Cases of neurobrucellosis presenting as cerebrovascular diseases in Peking Union Medical College Hospital from January 2007 to February 2018 were analyzed retrospectively.The demographic information,epidemiological history,routine and etiology tests of blood and cerebrospinal fluid,imaging (magnetic resonance imaging + diffusion weighted imaging,magnetic resonance angiography/head and neck computed tomography angiography),echocardiography,treatment and prognosis of the above patients were collected.The possible mechanism of neurobrucellosis with cerebrovascular diseases was analyzed according to clinical manifestations and imaging characteristics.Results Totally,31 cases of neurobrucellosis were diagnosed,of which seven cases were mainly presented as cerebrovascular diseases (three cases as the first symptoms),accounting for 23％ of neurobrucellosis.There were three cases of cerebral infarction,one case of cerebral infarction accompanied with cerebral hemorrhage,one case of transient ischemic attacks (TIA),two cases of imaging abnormalities related to cerebral small vessel disease.Three patients were discharged voluntarily and four patients were treated with minocycline/doxycycline,rifampicin and ceftriaxone.The prognosis of the treatedcases was good.Conclusions Neurobrucellosis may be presented as TIA,cerebral infarction,cerebral hemorrhage or cerebral small vessel disease related imaging features.For cerebrovascular diseases with systemic nonspecific symptoms such as hearing loss and fatigue,it is necessary to differentiate Brucella infection.Vasospasm,vasculitis and infection-induced arteriosclerotic infarction may be the possible mechanism of stroke in these patients.

Objective To analyze the adverse reactions of hysterosalpingography and prevention measures. Methods Totally 6 352 patients who underwent hysterosalpingography in our hospital between January 2006 and December 2013 were analyzed. Results Totally 836 cases had adverse reactions of different degrees including 312 cases of drug reactions and 626 cases of non?drug reactions. The adverse drug reactions were mainly hy?pogastralgia,laryngopharyngeal malaise,irritating cough,nausea,vomiting,shortness of breath,flush of the face,and pruritus. The non?drug reac?tions were mainly hypogastralgia,nausea,vomiting,pallor,speeding up of heart?beat,decreased blood pressure,dizziness,and blur version. Con?clusion Among patients who were negative for iodine anaphylactic test,there were still some who had adverse reactions of different degrees during HSG. Targeting at different conditions of reactions,corresponding prevention measures should be adopted to ensure the smooth progress of hysterosal?pingography.