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.

Child ; Humans ; Granulomatous Disease, Chronic/complications* ; Pneumonia

Objective: To explore the feasibility of remotely obtaining complex information on traditional Chinese medicine (TCM) pulse conditions through voice signals. Methods: We used multi-label pulse conditions as the entry point and modeled and analyzed TCM pulse diagnosis by combining voice analysis and machine learning. Audio features were extracted from voice recordings in the TCM pulse condition dataset. The obtained features were combined with information from tongue and facial diagnoses. A multi-label pulse condition voice classification DNN model was built using 10-fold cross-validation, and the modeling methods were validated using publicly available datasets. Results: The analysis showed that the proposed method achieved an accuracy of 92.59% on the public dataset. The accuracies of the three single-label pulse manifestation models in the test set were 94.27%, 96.35%, and 95.39%. The absolute accuracy of the multi-label model was 92.74%. Conclusion Voice data analysis may serve as a remote adjunct to the TCM diagnostic method for pulse condition assessment.

Objective To investigate the recurrence of immune thrombocytopenia(ITP)in children and to establish a predictive model.Methods A total of 288 children with ITP admitted to Children's Hospital of Wujiang District and Children's Hospital Affiliated to Suzhou University from January 2018 to April 2022 were collected.The factors potentially related to the recurrence of ITP in children were screened.The children in the model group were divided into 2 groups according to the presence or absence of recurrence and the indicators of the 2 groups were compared.After screening the potential influencing factors by LASSO regression and the independent influencing factors of relapse in children with ITP patients by Logstic regression analysis,we constructed a column-line graph model by using R language and validated it.Results A total of 37(18.47%)of 201 patients in the model group experienced relapse.The age,blood type,duration of disease before treatment,antecedent infections,bleeding,initial treatment regimen,antinuclear antibody titer,initial count and mean platelet volume,initial platelet distri-bution width,initial peripheral blood lymphocyte count and time length to effective platelet count after treatment were found in the recurrence group versus the non-recurrence group The difference was statistically significant(P＜0.05).The results of multifactorial logistic regression analysis performed on the basis of LASSO regression showed that blood type,duration of illness before treatment,antecedent infection,initial treatment regimen,ini-tial peripheral blood lymphocyte count,and time to effective platelet count after treatment were independent influ-ences on the conversion of cough variant asthma to classic asthma in children.Based on the results of the multifac-torial analysis,a column chart model for predicting ITP recurrence in children was developed in R.The results of the receiver operating characteristic(ROC)analysis showed that the area under curve(AUC)of the column chart model for predicting ITP recurrence in children in the modeling group was 0.867[95%CI(0.796,0.938)]with a sensitivity of 84.2%and a specificity of 73.1%,and that in the validation group,the AUC was 0.838[95%CI(0.765),0.911]with a sensitivity of 82.3%and a specificity of 78.4%,0.911)]sensitivity was 82.3%and specificity was 78.4%.The Bootstrap method was used to repeat the sampling 1000 times,and the validation group was used for validation.The results of the calibration curve showed that the prediction curves of the model group and the validation group were basically fitted with the standard curve,suggesting that the model prediction accuracy was high.The results of the decision curve analysis of the model group showed that the net benefit rate of patients was greater than zero when the probability threshold of the column line graph model of pre-dicting ITP recurrence in children was 0.15-0.75.Conclusions ITP recurrence in children is mainly affected by the patient's age,blood type,and pre-treatment course of the disease,and the column-line diagram model based on these factors has a high accuracy and differentiation for ITP recurrence in parenting children.

Objective To discuss the feasibility and safety of simultaneous bilateral adrenal vein sampling(AVS)using two 4F-MPA1 catheters via right elbow vein access.Methods A total of 51 consecutive patients with primary aldosteronism,who received simultaneous bilateral AVS using two 4F-MPA1 catheters(one of the two catheters was shaped into pig tail figure)via right elbow vein access at Xiangyang Municipal Central Hospital between October 2021 and October 2022,were enrolled in this study.The used catheter,the success rate of simultaneous bilateral AVS,and the incidence of complications rate were calculated.Results The 4F-MPA1 catheter was used for all of the right AVS,while a specially shaped 4F-MPA1 catheter was used for the main trunk vein AVS of the left adrenal gland and the central vein AVS of the left adrenal gland.The success rate of simultaneous bilateral AVS was 92.2%(47/51).Adrenal hematoma occurred in one patient(1.96%).Conclusion The technique of simultaneous bilateral AVS using two 4F-MPA1 catheters via right elbow vein access is simple to operate,less traumatic,and clinically safe and feasible.However,due to the small sample used in this study,the clinical value of this technique still needs further investigation and verification.

Objective To investigate the imaging features of intestinal schwannoma(IS)in order to improve the diagnostic ability of the disease.Methods The clinical and imaging data of 14 patients with surgically and pathologically confirmed IS were retrospectively analyzed,including the location,size,morphology,nature,growth pattern,CT density,MRI signal,PET/CT metabolism and other characteristics of the tumors.Results Of the 14 IS cases,the lesions of 3 cases were located in the duodenum,2 cases in the cecum,8 cases in the colon and 1 case in the rectum.The lesions were all round or oval,with an average maximum diameter of(2.4±1.1)cm.The lesions were solid in 13 cases,extraluminal growth in 10 cases,cystic degeneration in 1 case and myxoid degeneration in 1 case.Chronic inflammatory lymph nodes were seen around the diseased intestines in 9 cases,and the short diameter of lymph nodes was greater than 5 mm in 6 cases.All 14 cases of IS showed low attenuation on plain CT scan,and progressive enhancement after contrast injection,including 1 case of mild enhancement,2 cases of moderate enhancement,and 11 cases of obvious enhancement.Two cases of IS showed low signal intensity on T1WI,slightly high signal intensity on T2WI,significantly high signal intensity on DWI,and obvious progressive enhancement after contrast injection on MRI.Two cases of IS showed high metabolism on 18F-FDG-PET/CT,and the SUVmax was 9.4 and 8.8,respectively.Conclusion The imaging findings of IS were characteristic to a certain extent.They mainly manifested as solid nodules or masses derived from the intestinal submucosa,with uniform attenuation or signal intensity,obvious progressive enhancement after contrast injection,obvious hypermetabolism on 18F-FDG-PET/CT,and slightly larger homogeneous lymph nodes were common around the lesions.

A novel technology is proposed for non-contact and real-time detection of atrial fibrillation using millimeter-wave radar.A 60 GHz PCR millimeter wave radar is used to continuously detect the chest echo signal of the subject.After signal acquisition,I-Q signal is generated through I-Q demodulation,and the signal phase information is extracted using effective points phase trend evaluation for obtaining the signals from oscillations in the chest wall,from which the respiratory signals and cardiac signals are extracted through digital filtering for the analysis of cardiac movement.Whether the atrial fibrillation occurs or not is determined by the characteristics of atrial fibrillation wave in the time domain.The effective points phase trend evaluation for extracting more accurate signal phase information and the time-domain method for real-time atrial fibrillation detection are the innovations of the study.The experimental results show that the proposed method achieves a detection accuracy of 99.2%in clinic.

Objective:To investigate the diagnostic value of pelvic floor ultrasound combined with electromyography physiological parameters for postpartum stress urinary incontinence(SUI)of different degrees and pelvic floor function of primipara.Methods:A total of 160 SUI patients who admitted to Yan'an hospital of Kunming City from January 2019 to January 2022 were selected,and they were divided into abnormal group(110 cases)and normal group(50 cases)according to pelvic floor function(the muscle voltage values of different muscle fibers).The SUI was graded according to the Chinese Guidelines for Diagnosis of Urological Diseases and the International Incontinence Advisory Committee's Incontinence Questionnaire(ICI-Q-SF).The posterior horn(α)of bladder and urethra at rest,the displacements of the bladder neck on y-axis(△y)and x-axis(△x)after the rest to the fatigue action,the proximal urethral rotation angle after the rest to the fatigue action(γ),the posterior horn of bladder and urethra(β)after the fatigue action were observed.The electromyography was used to draw and record the pelvic floor myoelectric activity signals of the patients of two groups at five stages(pre baseline rest period,class II muscle fiber systole period,class II and I muscle fiber systole period,class I muscle fiber systole period and post baseline rest period).And then,the muscle voltage values of different muscle fibers on the surface of pelvic floor were quantified.Results:There was no statistically significant difference in Δ x between patients with postpartum SUI of different degrees.There were significant differences in △y,α,β and γ between patients with postpartum SUI of different degrees(F=7.162,7.655,14.998,2.758,P<0.05).The differences of the means of muscle voltages of pre and post baseline rest period,and class I muscle fiber systole period among patients with postpartum SUI of different degrees were not significant.The differences of the means of muscle voltages of class II,and the class II and I muscle fiber systole period among patients with postpartum SUI of different degrees were significant(F=12.062,24.501,P<0.05),respectively.There was no statistically significant difference in △x between the two groups.The △y,α,β and γ of abnormal group were significantly higher than those of normal group(t=8.991,8.691,9.389,27.552,P<0.05),respectively.There were no statistically significant differences in the means of muscle voltage values of the pre and post baseline rest period,and class I muscle fibers systole period between the two groups.The means of muscle voltage values of class II,and class II and I muscle fibers systole period in the abnormal group was significantly higher than them in the normal group(t=9.613,14.452,P<0.05),respectively.The sensitivities of △y,α,β,γ,the means of class II muscle fibers systole period,and the means of class II and I muscle fibers systole period of pelvic floor ultrasound and electromyography physiological parameters were respectively 71.60%,79.40%,81.40%,91.20%,83.30%and 82.40%,and the specificities of them were respectively 41.40%,37.90%,37.90%,60.30%,41.40%,and 44.80%in diagnosing postpartum SUI of different degrees of primipara.The sensitivity and specificity of the combined diagnosis of them were respectively 92.20%and 82.80%in diagnosing postpartum SUI of different degrees of primipara.The sensitivities of △y,α,β,γ,the means of class II muscle fibers systole period,and the means of class II and I muscle fibers systole period of pelvic floor ultrasound and electromyography physiological parameters were respectively 79.10%,77.30%,88.20%,89.10%,77.30%,87.30%,and the specificities of them were respectively 64.00%,64.00%,52.00%,46.00%,70.00%and 66.00%in diagnosing pelvic floor function of primipara.The sensitivity and specificity of the combined diagnosis were respectively 98.20%and 80.00%in diagnosing pelvic floor function of primipara.Conclusion:Pelvic floor electromyography physiological parameters and pelvic floor ultrasonic parameters have a certain value in diagnosing postpartum SUI of different degrees and pelvic floor function,and the value of the combined diagnosis of them is higher.

Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.

Objective:To assess the value of cerebral small vessel disease (CSVD) burden in predicting prognosis in acute ischemic stroke (AIS) patients with anterior circulation large vessel occlusion (LVO) after endovascular therapy (EVT).Methods:The study was a cross-sectional study. A total of 242 patients with AIS due to anterior circulation LVO received EVT in the First Affiliated Hospital of Nanjing Medical University from February 2018 to September 2022. The clinical and imaging data of all patients were analyzed retrospectively. On follow-up MRI within 7 days after EVT, CSVD features [white matter hyperintensity (WMH), lacune, perivascular space, cerebral microbleed, cerebral atrophy] and CSVD burden score (0-5) was evaluated. Modified Rankin scale (mRS) score at 90 days after EVT was assessed. Patients were categorized into a mild burden group (0-1 points) and a moderate-severe burden group (2-5 points) based on CSVD burden score. Meanwhile, patients were categorized into a good prognosis group (0-2 points) and a bad prognosis group (3-6 points) based on mRS score at 90 days after EVT. Mann-Whitney U test and χ2 test were used to compare the difference of clinical and imaging indexes between the 2 groups, and variables with P<0.1 in the univariate analysis were included in the multifactorial logistic regression to screen for independent factors to predict the prognosis. Results:There were 169 patients in the good prognosis group and 73 patients in the bad prognosis group out of 242 patients. Compared with the good prognosis group, age, incidence of hyperlipidemia, baseline National Institutes of Health Stroke Scale (NIHSS) scores, incidence of hemorrhagic conversion, CSVD burden scores, incidence of periventricular WMH scores of 3 and/or deep WMH scores≥2, and incidence of moderate-severe cerebral atrophy of patients in the bad prognosis group were higher, and the incidence of complete recanalization was lower (all P<0.05). Multivariate analysis showed hyperlipemia ( OR=8.438, 95% CI 1.691-42.119, P=0.009), baseline NIHSS score ( OR=1.103, 95% CI 1.047-1.162, P<0.001), complete recanalization ( OR=0.131, 95% CI 0.038-0.454, P=0.001) and hemorrhage transformation ( OR=1.952, 95% CI 1.031-3.697, P=0.040) were independent factors for the prognosis of EVT in patients with LVO AIS. There were 157 cases in the mild burden group and 85 cases in the moderate-severe burden group. The 90-day mRS score was higher in the moderate-severe burden group compared with the mild burden group ( Z=-2.24, P=0.025). Conclusion:CSVD burden has some clinical implications in predicting the prognosis of EVT in patients with anterior circulation LVO AIS.