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.

Humans ; Acute Disease ; Pancreatitis/diagnosis* ; Follow-Up Studies ; Patient Discharge ; Disease Progression

Atypical hemolytic uremic syndrome (aHUS), a rare disease caused by complement abnormalities, is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In this paper, we report a patient with severe renal insufficiency with rapidly progressive decline in binocular visual acuity, who developed eosinophilia during the course of the disease, and was diagnosed with aHUS after excluding other diseases. After glucocorticoid treatment, eosinophils decreased to normal, and after treatment with plasmapheresis combined with eculizumab, renal function tended to be stable, platelets returned to normal, but visual acuity did not improve significantly. This article reviews the diagnosis and treatment process of this patient and incorporates the review of literature, in the hope of providing reference for clinicians.

The clinical medicine postdoctoral training program embodies a pioneering initiative in China's pursuit of excellence in medical education in the contemporary era. The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital in 2023 signifies a momentous milestone, making it the nation's inaugural clinical department exclusively dedicated to diagnosis and treatment of patients with rare diseases. Aligned with the Consensus on Core Competency Framework for Residency Education Among China Consortium of Elite Teaching Hospitals for Residency Education, the clinical postdoctoral program in the Department of Rare Diseases underscores a holistic advancement of fundamental competencies within the framework of "three basics and three stricts". This approach is further complemented by the refinement of teaching evaluation and feedback systems. The program aspires to serve as an educational paradigm for cultivating elite talents in the field of rare disease medicine in China and nurture multifaceted talents equipped with exceptional clinical insight and comprehensive capabilities, thereby alleviating the acute shortage of adept professionals in the domain of rare diseases and propelling the field's progression in China.

Diabetic retinal neurodegeneration is a serious complication of diabetes mellitus, manifested by apoptosis and gliosis, and its pathogenesis is closely related to the oxidative stress induced by high glucose levels. The increase in blood glucose in the body leads to excessive production of reactive oxygen species and the downregulation of antioxidant defense signaling pathways, which leads to oxidative stress in the body, which in turn induces apoptosis, mitochondrial damage and autophagy, resulting in diabetic retinal neurodegeneration. Antioxidant stress therapy with gene therapy, flavonoids, recombinant Ad-β-catenin carriers, and autophagy inducers to exert neuroprotective effects. In the future, more clinical trials are needed to explore the effective dosage and side effects of drugs, and to develop new drugs and treatment strategies for oxidative stress to prevent and treat diabetic retinal neurodegeneration and protect retinal nerve function.

A 43-year-old female patient was admitted with recurrent thrombosis for more than 2 years and thrombocytopenia for more than 1 year. Both arterial and venous thromboses developed especially at rare sites even during anticoagulation therapy such as cerebral venous sinus thrombosis. Antinuclear antibody, anti-ENA antibody and antiphospholipid antibody were all negative. Platelet count elevated to normal after high dose glucocorticoid and intravenous immunoglobulin (IVIG). Immune thrombocytopenia was suspected. When 4 grade thrombocytopenia recurred, intravenous heparin, rituximab 600 mg, IVIG and eltrombopag were administrated. After 3 weeks, thrombocytopenia did not improve, and new thrombosis developed instead. Screening of thrombophilia related genes revealed PROS1 gene heterozygous mutation and MTHFR TT genotype. Low amount of serum IgG κ monoclonal protein was detected. Heparin-induced thrombocytopenia was differentiated and excluded. Finally, serum negative antiphospholipid syndrome was considered the most likely diagnosis. Dexamethasone 20 mg/day × 4 days combined with sirolimus 2 mg/day was prescribed. The patient was discharged with low molecular weight heparin. At one month, her headache was greatly relieved. The platelet count raised to 20-30×10 9/L, and no new thrombosis or bleeding was reported.

Objective:To evaluate the accuracy of CHANNEL process in predicting difficult airway of patients in emergency department.Methods:From July 2016 to December 2019, we selected patients who underwent airway management in the emergency department of Peking Union Medical College Hospital. They were evaluated by CHANNEL and improved Mallampati (modified Mallampati test, MMT) classification at the same time. After completion, the glottis was exposed under direct laryngoscope, and then Cormack Lehane classification was performed. Difficult airway was defined as Cormack-Lehane grade Ⅲ or Ⅳ. The receiver-operating characteristics curve was used to evaluate the accuracy of MMT and CHANNEL in predicting difficult airway.Results:122 of 312 patients who underwent emergency airway management were included in the study. The sensitivity of CHANNEL in predicting difficult airway was 100%, the specificity was 90.1%, the area under the curve(95% confidence interval) was 0.948(0.907~0.988).Compared with MMT, the area under the curve of CHANNEL in predicting difficult airway was significantly increased( P<0.05). Conclusion:CHANNEL can accurately predict difficult airway of patients in the emergency department.

Objective:To analyze the changes of mean arterial pressure (MAP) and end expiratory carbon dioxide (ETCO 2) in patients after emergency endotracheal intubation (ETI). To explore the values of MAP and ETCO 2 monitoring in early prediction of severe cardiovascular collapse (CVC) after emergency ETI. Methods:The clinical data of adult patients who underwent ETI from March 2015 to May 2020 were collected consecutively in the emergency departments of Peking Union Medical College Hospital. The values of MAP and ETCO 2 were observed and recorded at 5, 10, 30, 60 and 120 min after intubation. According to whether severe CVC occurred after ETI, the patients were divided into the severe CVC group and non-severe CVC group. The values of MAP and ETCO 2 were compared at the same time points between the two groups and the adjacent time points within the groups. The correlation between MAP and ETCO 2 after ETI was also analyzed. ROC curve was used to analyze the ability of MAP and ETCO 2 at 5 min and 10 min after ETI to predict severe CVC. Results:Totally 116 patients were enrolled in this study, among them 75 (64.7%) cases had severe CVC after ETI. The majority were male and elderly patients in the severe CVC group. The values of MAP and ETCO 2 in 5, 10, 30, 60 and 120 min after ETI in severe CVC group were significantly lower than those in the non-severe CVC group. The values of MAP and ETCO 2 in the two groups showed simultaneous decrease from 5 min to 30 min after ETI, reached the lowest value at 30 min after ETI, and appeared the synchronous recover from then to 120 min after ETI. After ETI, the changes of MAP was correlated with that of ETCO 2 ( rs = 0.653, P<0.01). At 5 min after ETI, MAP could predict severe CVC (AUC=0.86, P<0.01), MAP≤72 mmHg was the best cutoff value (sensitivity 78.7%, specificity 87.8%); ETCO 2 could also predict severe CVC (AUC=0.85, P<0.01), and ETCO 2≤35 mmHg was the best cutoff value (sensitivity 77.3%, specificity 85.4%). At 10 min after ETI, MAP could predict severe CVC (AUC = 0.90, P<0.01), MAP≤67 mmHg was the best cutoff value (sensitivity 89.3%, specificity 85.4%), ETCO 2 could also predict severe CVC (AUC=0.87, P<0.01), and ETCO 2≤33 mmHg was the best cutoff value (sensitivity 81.3%, specificity 78.0%). There was no significant difference in the ability of prediction between any two indexes of the MAP and ETCO 2 at 5 min and 10 min after ETI ( P>0.05). Conclusions:Patients with severe CVC after ETI have early signs of decreased MAP and ETCO 2, but the delayed recognition and insufficient intervention may be related to the occurrence and development of severe CVC. MAP and ETCO 2 at the early stage after ETI have high accuracy in predicting severe CVC. MAP≤72 mmHg, ETCO 2≤35 mmHg at 5 min after intubation, MAP≤67 mmHg and ETCO 2≤33 mmHg at 10 minutes after intubation all suggest the possibility of severe CVC.

Objective:To investigate the incidence and risk factors of acute kidney injury in patients admitted to the resuscitation room of the Emergency Department.Methods:Patients were enrolled from the resuscitation room of our hospital from September to December 2018 by a retrospective cohort study. Patients were divided into AKI group and non-AKI group according to whether AKI occurred within seven days after admission. Demographic characteristics, APACHEⅡ score, whether to use nephrotoxic drugs,24-hour fluid volume, and patients survival time were collected. Multivariate regression analysis was used to explore the risk factors for AKI. Cox regression was used to study the effect of the occurrence of AKI on survival and to analyze the influence of AKI severity on the death risk of patients in the resuscitation room.Results:Among 238 critical patients who were finally included, 108 patients developed AKI(45.4%), 83 patients were in AKI stage 1 (34.9%), and 25 patients were in AKI stage 2-3 ( 10.5%).APACHEⅡ score>13( OR=1.11, 95% CI (1.08-1.16), P <0.01), vasoactive drugs ( OR=2.20, c95% CI (1.08-4.49), P=0.03), diabetes mellitus ( OR=2.33, 95% CI (1.23-4.42), P=0.01), and fluid load> 3 L( OR=3.10, 95% CI (1.17-8.25). P=0.02) were independent risk factors for AKI. After adjustment for APACHEⅡ score and age by multivariate COX regression, AKI remained an independent risk factor for death in emergency patients, and the severity of AKI significantly increased the risk of death in these patients(AKI 1: HR=1.45, 95% CI (1.08-2.03), P =0.04; AKI 2~3: HR=3.15, 95% CI (1.49-4.81), P=0.03). Conclusions:AKI occurred commonly in the resuscitation room of the emergency department. APACHE Ⅱ score>13, vasoactive drugs, diabetes, and fluid load>3 L were independent risk factors for AKI. The risk of death increased with the aggravation of AKI severity.

Objective: To investigate the feasibility of echocardiography-guided closed-chest repeated intraventricular blood sampling in mice, and to clarify the maximum blood volume that can be collected by this method, and whether the method can be used for long-term repeated blood collection in mice. Methods: Twenty-four male C57BL/6J mice (10-14 weeks old) were divided into the terminal experiment group (n=4, for investigating the maximum blood amount that could be sampled at one time), the repeated 0.5 ml blood collection group (n=10, sampling 0.5 ml whole blood each time, once every two days for consecutive 4 weeks), and the repeated 0.75 ml blood collection group (n=10, sampling 0.75 ml whole blood each time, once every two days for consecutive 4 weeks). High-frequency echocardiography was used to display the largest section of the left ventricle, guiding the insulin syringe needle through the thorax into the left ventricle for blood collection. In the repeated 0.5 ml blood collection group, echocardiography was used to detect the cardiac structure and function before blood collection, three minutes after blood collection, and one week after the last (the 14th) blood collection. Results: We successfully performed echocardiography-guided closed-chest intraventricular blood sampling, with an average operating time (88±19)s per mouse, and a maximum blood volume (1.43±0.11)ml per mouse. In the repeated 0.5 ml blood collection group, heart rate, left ventricular ejection fraction, left ventricular fractional shortening, left ventricular end-diastolic dimension and left ventricular posterior wall end-diastolic thickness remained uncganged before the first blood collection and after 4 weeks of repeated blood collection (all P>0.05). No death in the repeated 0.5 ml blood collection group. However, in the 0.75 ml blood collection group, two mice died before the end point. Conclusions The echocardiography-guided closed-chest intraventricular blood sampling is a safe, minimally invasive, convenient and efficient method, and can be used repeatedly for long-term blood collection in mice.