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 summarize and analyze the diagnostic and therapeutic characteristics of asymptomatic primary hyperparathyroidism (aPHPT).Methods:A retrospective analysis was conducted on the clinical data of 103 patients with aPHPT admitted to the Chinese PLA General Hospital from January 2012 to September 2023. The clinical characteristics, treatment modes, and prognoses of the patients were analyzed. GraphPad Prism 8.0 software was used for statistical analysis.Results:Among the 103 cases, there were 37 males and 66 females, aged from 25 to 78 years, with an average age of (53.81±11.34) years. Ninety-eight cases (95.15%) visited due to abnormal findings during physical examination and 5 cases (4.85%) due to hypertension, diabetes or other diseases. All patients underwent minimally invasive parathyroidectomy with small incision, with 96 cases (93.20%) pathologically diagnosed as adenomas and 7 cases as hyperplasia (6.80%). Postoperative mean serum calcium, parathyroid hormone (PTH) and alkaline phosphatase (ALP) levels were respectively significantly lower than preoperative levels, while postoperative serum phosphorus level was significantly higher than preoperative level ( P<0.05). The mean lesion volume was (3.32±6.72)cm 3 (range 0.05-49.50 cm 3). Patients with different lesion volumes had significant differences in preoperative serum calcium, PTH and ALP levels. Lesion volume was positively correlated to preoperative serum calcium(ρ=0.36, P<0.01), PTH(ρ=0.50, P<0.01) and ALP(ρ=0.39, P<0.01). Among 103 patients, 94 cases were followed up (91.26%), 9 cases were lost (8.74%), and the mean follow-up period was (60.15±29.23) months. The followed-up patients were alive and had no recurrence of lesions or complications, and their blood calcium levels were normal. Conclusion:aPHPT can be preliminarily diagnosed through blood biochemistry and imaging examination, and minimally invasive surgery can offer good prognosis without serious complications.

Objective:To establish a method for determintation of chlorogenic acid and linarin in Yejuhua granules by HPLC.Methods:We applied HPLC methods. The Kromasil 100-5 C18 column (250 mm×4.6 mm,5 μm) was used, the mobile phase was acetonitrile-0.4%H 3PO 4 solution (gradient elution), the flow rate was 1.0 ml/min, the dection wavelenghth was 334 nm and the column temperture was 32 ℃. Results:Chlorogenic acid and buddleoside had good linearity in the ranges of 0.30-1.50 μg ( r2=0.999 1) and 0.12-0.62 μg ( r2=0.999 8), respectively. The average recoveries were 99.70% and 96.67%, with RSD<2%, respectively. Conclusion:The method is simple, rapid, reliable, efficient, and can be used for determination of chlorogenic acid and buddleoside in Yejuhua Granules.

Objective:To investigate the current situation of developmental coordination disorder in preschool children in Taiyuan, providing evidence for developing health strategies for preschool children in this city.Methods:We selected 11 126 preschool children aged 3-5 years from 24 kindergartens in Taiyuan using the cluster random sampling method during November-December 2018. Each preschool child was tested with the developmental coordination disorder questionnaire for young children.Results:The incidence of developmental coordination disorder was 3.4%, and the incidence of suspected developmental coordination disorder was 5.4%, and the incidences of which were higher in boys than in girls ( χ2 = 9.46, P < 0.01). The incidence of developmental coordination disorder decreased with aging ( r = -0.06, P < 0.01). The incidence of developmental coordination disorder was negatively correlated with parents' education level and maternal passive smoking during pregnancy ( r = -0.11, P < 0.01; r = -0.12, P < 0.01; r = -0.03, P < 0.01). Lower parents' education level and maternal passive smoking during pregnancy led to a higher incidence of developmental coordination disorder in children. Conclusion:Preschool children from Taiyuan had a lower incidence of developmental coordination disorder than those from economically developed south areas. The higher the gross domestic product in the areas where the kindergartens locate, the lower the incidence of developmental coordination disorder ( r = 0.03, P < 0.01). Environmental factors have a certain impact on developmental coordination disorders in preschool children. Parents, kindergarten teachers, and child health workers should take active intervention measures against the adverse factors in the early development environment of children.

Osteoarthritis is the most common degenerative cartilage disease. A large number of studies have shown the close association between epigenetics and osteoarthritis. Histone methylation is a type of epigenetic modification, and the link between histone methylation and osteoarthritis has also been revealed. In this article, we summarize the correlation between methylation levels of different histones and osteoarthritis in an attempt to explore the changes and regulation mechanisms of histone methylation in osteoarthritis. It has been shown that there are possible relations between the methylation levels of different amino acids on histone H3 and the pathological development of osteoarthritis; specifically, the rise of methylation level at the lysine 4 would aggravate the pathological development of osteoarthritis, while the the pattern of lysine 9 and 27 would be the opposite. These results indicate the possible existence of a complex network of histone methylation modifications. And the specific regulation of histone methylation levels in different positions may delay or prevent the occurrence and development of osteoarthritis.

Objective To evaluate the safety and efficacy of therapeutic ERCP for patients above 90 years of age.Methods The data of 37 patients of above 90 years who underwent 42 ERCP procedures from January 2001 to December 2009 were studied retrospectively and compared with those of 152 matched patients ( 168 procedures) below 65 years old at a 1∶4 ratio for success rate and complications.Results The rate of complete success,partial success,and failure in observation group was 73.81％ (31/42),19.05％(8/42) and 2.38％ (1/42),respectively,which were similar (P ＞0.05) with those in control group,with complete success rate at 85.12％ ( 143/168),partial success rate at 12.50％ (21/168) and failure rate at 2.38％ (4/168).The rate of terminated operation in observation group (4.76％,2/42) was significantly higher than that of the control group (0.00％,0,P =0.039).The overall rate of complication in observation group was 7.14％ ( 3/42 ),slightly higher than that of the control group ( 6.55％,11/168,P ＞0.05 ).There was no significant difference between the two groups regarding the rates and severity of such complications as pancreatitis,hemorrhage and infection ( P ＞ 0.05 ).No perforation or death was observed.Conclusion Therapeutic ERCP for patients of 90 years or older is safe and effective.Adverse events related to chronic concomitant diseases need early detection and proper management.

Objective To observe the inhibitory effect of caspase\|3 mRNA antisense oligodeoxynucleotides (ASODN) on the apoptosis of HL\|60 cells, and to screen the effective ASOND. Methods By means of the lipofectimine\|mediating transfection, caspase\|3 mRNA ASODNs of four different sequences were introduced into HL\|60 cells followed by ? irradiation.The gel electrophoresis was performed for the DNA ladder, Hoechst 33258\|propidium iodide fluorecent staining for the percentage of apoptotic cells, and FCM for quantitative analysis of apoptosis. Results When HL\|60 cells were transfected with caspase\|3 mRNA ASODNs targeting 5'noncoding region (sites -62 to -46) and initiative coding region (sites -1 to 16) at the final concentration of ≥3?? mol/L, the DNA ladder was not detected with the gel electrophoresis, nor was the apoptotic peak found with FCM. Fluorescent staining analysis showed that the percentage of apoptotic cells was significantly lower than that in the control groups including non\|transfection group and mismatched oligodeoxynuleotide group ( P