Objective To explore the characteristics and diagnostic significance of ultrasound signs in the diagnosis of acute appendicitis in children.Methods This study focused on 81 children with acute appendicitis and divided them into two groups based on pathological examination results:34 children with severe progressive appendicitis(41.98%)and 47 children with simple appendicitis(58.02%).By analyzing the indirect and direct signs of ultrasound detection,as well as pathological examination data,and using ROC curve analysis to analyze the area under the curve(area under curve,AUC)of ultrasound signs combined,a comprehensive analysis is conducted to score the ultrasound examination results of children.Results The detection rates of wall continuity interruption/low-level clarity,intraluminal fluid accumulation,periappendiceal or abdominal fluid accumulation,periappendiceal hyperechogenicity,cecal and ileal wall thickening in the advanced group were higher than those in the simple group(P<0.05);The scores of indirect,direct,and combined ultrasound signs in the progressive group were higher than those in the simple group(P<0.05);Under the ROC curve,the sensitivity,specificity,positive predictive value,and negative predictive value of combined signs were 98.77%,97.53%,98.77%,and 96.30%,respectively,higher than those of indirect signs and direct signs.The AUC was 0.835,higher than those of indirect signs and direct signs(P<0.05).Conclusion The combined diagnosis of ultrasound examination signs can provide objective evidence for the early diagnosis of acute appendicitis in children,and can also achieve dynamic monitoring of the disease,which is conducive to the formulation of clinical treatment plans.

Objective To develop an expert consensus on subcutaneous injection nursing for allergic asthma in children,standardize nursing practice to reduce the occurrence of related adverse reactions.Methods The clinical guideline,expert consensus,systematic review,evidence summary and original research on subcutaneous injection of monoclonal antibody drug for children with allergic asthma were comprehensively searched in domestic and foreign databases.The time limit for retrieval was from the establishment of databases until August 2023.Combined with clinical practice experience,the first draft of the consensus was formed.From December 2023 to February 2024,27 experts were invited to conduct 2 rounds of expert letter consultation,revise and improve the contents of the first draft,and expert demonstration was conducted,and finally a consensus final draft was formed.Results The effective recovery rate of the 2 rounds of letter consultation questionnaires was 100％;the authority coefficient of experts was 0.88;the judging basis coefficient was 0.93;the familiarity coefficient was 0.83.In the 2 rounds of correspondence,the Kendall concordant coefficients of expert opinions were 0.241 and 0.252,respectively(P＜0.001 for both).The consensus includes 6 parts,including personnel management,environmental layout,indications and contraindications,subcutaneous injection operation norms,identification and treatment of adverse reactions,and health education.Conclusion The consensus is strongly scientific and practical,and can provide guidance for nursing practice of subcutaneous injection of monoclonal antibodies in children with allergic asthma.

Objective To explore the expression levels of cholinesterase (CHE) and haptoglobin (HPT) in serum of children with recurrent respiratory tract infections (RRTI) and their value in evaluation of prognosis. Methods A total of 112 children with RRTI were selected and included in the RRTI group, and 95 normal children who underwent physical examination during the same period were randomly selected and included in control group. According to the severity of the disease, patients in the RRTI group were divided into mild group of 38 cases, moderate group of 40 cases, and severe group of 34 cases. The levels of serum CHE, HPT, interleukin-1 (IL-1), interleukin-6 (IL-6), immunoglobulin A (IgA), immunoglobulin M (IgM), as well as CD3⁺ and CD3⁺CD4⁺ were detected. The correlation between CHE and HPT in RRTI children was analyzed. The predictive value of serum CHE and HPT expression levels on the prognosis of RRTI children was analyzed. Results The CHE expression level in the RRTI group was significantly lower than that in the control group, while the HPT level was significantly higher (P < 0.05). The CHE level in severe RRTI patients was significantly lower than that in the moderate and mild groups, and the moderate group was significantly lower than the mild group; the HPT level in severe RRTI children was significantly higher than that in the moderate and mild groups, and the moderate group was significantly higher than the mild group (P < 0.05). The CHE expression level in RRTI children was negatively correlated with the HPT expression level (r=-0.637, P < 0.001). The levels of IL-1, IgA, IgM, CD3⁺ and CD3⁺CD4⁺, in the RRTI group were significantly lower than those in the control group, while the IL-6 level was significantly higher (P < 0.05). The CHE expression level in RRTI children was positively correlated with IL-1, IgA, IgM, CD3⁺and CD3⁺CD4⁺, and negatively correlated with IL-6; the HPT expression level was negatively correlated with IL-1, IgA, IgM, CD3⁺ and CD3⁺CD4⁺, and positively correlated with IL-6 (P < 0.05). The serum CHE expression level in RRTI children with good prognosis was significantly higher than that in RRTI children with poor prognosis, while the HPT level was significantly lower (P < 0.05). The area under the curve (AUC) of the combined prediction of CHE and HPT for the prognosis of RRTI children was higher than that of their individual predictions, and the difference was statistically significant (P < 0.05). Conclusion In the serum of RRTI children, CHE is lowly expressed, while HPT is highly expressed. The combined evaluation of CHE and HPT has high prognostic value for RRTI patients.

【Objective】 To analyze the commonality and characteristics between voluntary blood donors and hematopoietic stem cell donors in this region, and explore the potential for integration and development between China Marrow Donors Program (CMDP) and voluntary blood donors, especially platelet donor databases, so as to improve recruitment success rate and inventory rate. 【Methods】 The database modeling and comparison methods were used to screen and stratify the matching and integration degree between the voluntary blood donors in recent 10 years and the marrow donors in the Shaanxi Branch of CMDP. The frequencies of HLA-A,-B alleles, HPA alleles and haplotypes were calculated with Arlequin 3. 5. 2. 2 software, and the matching probability of different platelet donor reserve pools was conducted according to the phenotypic frequencies. 【Results】 Among the voluntary donors with known HLA genotypes in this region, according to their blood donation behavior,the active blood donors excavated were divided into the first, second, third and fourth echelons of platelet donor reserve pools, with 696, 2 752, 9 092 and 12 028 donors, respectively. The first echelon had the highest proportion of 10-50 times of platelet donations and 10-20 times of whole blood donations, with 13.65% and 26.01%, respectively. The second echelon had 10-20 times of whole blood donations and 10-50 times of platelet donations, accounted for 15.04% and 1.38%, respectively, which were significantly different from other echelons' blood donation characteristics (P<0.05). With a database size of the existing platelet donor bank adding the first and second echelons (n=4 955), there was a 69.02% probability of matching at least one donor with matching HLA-A-B phenotype. When considering the matching ABO and HPA phenotypes, the probability of finding at least one donor with fully matching HLA, HPA and ABO isotype (type B as an example) was 48. 73%. 【Conclusion】 The three groups of whole blood donation, apheresis platelet donation and marrow donation in Xi'an area have a large cross-distribution. Compared with expanding the storage capacity from scratch, the active blood donors in CMDP database are the largest back-up force of platelet donors. While expanding the effective storage capacity, it can minimize the cost of building platelet donor bank and the demand for resources.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software. RESULTS: The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously. CONCLUSION The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Humans ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Exons ; Computational Biology ; Genetic Counseling ; Genitalia ; Transcription Factors ; Homeodomain Proteins

Pulmonary blast injury has become the main type of trauma in modern warfare, characterized by externally mild injuries but internally severe injuries, rapid disease progression, and a high rate of early death. The injury is complicated in clinical practice, often with multiple and compound injuries. Currently, there is a lack of effective protective materials, accurate injury detection instrument and portable monitoring and transportation equipment, standardized clinical treatment guidelines in various medical centers, and evidence-based guidelines at home and abroad, resulting in a high mortality in clinlcal practice. Therefore, the Trauma Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Trauma organized military and civilian experts in related fields such as thoracic surgery and traumatic surgery to jointly develop the Clinical treatment guideline for pulmonary blast injury ( version 2023) by combining evidence for effectiveness and clinical first-line treatment experience. This guideline provided 16 recommended opinions surrounding definition, characteristics, pre-hospital diagnosis and treatment, and in-hospital treatment of pulmonary blast injury, hoping to provide a basis for the clinical treatment in hospitals at different levels.

Humans ; Amyotrophic Lateral Sclerosis/drug therapy* ; Benzofurans/therapeutic use* ; Double-Blind Method ; Treatment Outcome

Objective To investigate the establishment of a six-gene-edited pig-to-non-human primate kidney xenotransplantation model. Methods The kidney of humanized genetically-edited pig (GTKO/β4GalNT2KO/CMAHKO/hCD55/hCD46/hTBM) was transplanted into a cynomolgus monkey. The survival of the recipient and kidney condition after blood perfusion were observed. The parenchymal echo, blood flow changes, and size of the kidney were monitored on a regular basis. Routine blood test, kidney function test and electrolyte assessment were carried out. Dynamic changes of urine, feces and body mass were monitored. At the end of life, the transplant kidney, heart, liver, spleen, lung, and cecum were collected for pathological examination. Results The recipient died at postoperative 7 d. After blood flow was restored, the kidney was properly perfused, the organ was soft and the color was normal. At the end of the recipient's life, a slight amount of purulent secretion was attached to the ventral side of the kidney, with evident congestion and swelling, showing the appearance of "red kidney". Postoperatively, the echo of renal parenchyma was increased, blood flow was decreased, the cortex was gradually thickened, and a slight amount of effusion surrounded the kidney and abdominal cavity over time. In the recipient, the amount of peripheral red blood cells, hemoglobin, albumin, and platelets was progressively decreased, and serum creatinine level was increased to 308 μmol/L at postoperative 7 d, whereas the K⁺ concentration did not significantly change. Light yellow urine was discharged immediately after surgery, diet and drinking water were resumed within postoperative 3 h, and light yellow and normal-shape stool was discharged. The reddish urine was gradually restored to normal color within postoperative 1 d, which were consistent with the results of the routine urine test. A large amount of brown bloody stool was discharged twice in the morning of 2 d after surgery. Omeprazole was given for acid suppression, and the stool returned to normal at postoperative 4 d. The β₂-microglobulin level was increased to 0.75 mg/L at postoperative 7 d. The body mass was increased by 1.7 kg. Autopsy pathological examination showed interstitial edema and bleeding of the transplant kidney, a large amount of infiltration of lymphocytes and macrophages, infiltration of lymphocytes in the arteriole wall and arterial cavity, accompanied by arteritis changes, lymphocyte infiltration in the cecal stroma and congestion in the spleen tissues. No significant abnormal changes were observed in other organs. Conclusions The humanized genetically-edited pig-to-non-human primate kidney xenotransplantation model is successfully established, and postoperative survival of the recipient is 1 week.

Objective:To study the glypican 3 (GPC3) fluorescent probe imagings in hepatocellular carcinoma (HCC) tissues and to determine its prognostic value in HCC patients.Methods:The data of 87 patients who were treated at the Affiliated Hospital of Southwest Medical University from January 2019 to August 2020 were retrospectively analyzed. There were 75 males and 12 females, with the age of (56.1±11.9) years. The expressions of GPC3 were measured by immunohistochemistry and by the fluorescent probe. The results obtained by these two tests were compared. Patients were followed up for recurrence after hepatectomy. Univariate and multivariate Cox regression analyses were used to analyze factors influencing recurrence-free survival.Results:Detection of the GPC3 expression by GPC3 fluorescence probe was consistent with the results obtained by immunohistochemical studies ( Kappa=0.84, P<0.001). The positive rates of GPC3 fluorescent probe was 79.3%(69/87), compared with 80.4%(70/87) by immunohistochemistry studies, with no significant difference between the two groups ( P>0.05). The patients were then divided into the low differentiation group ( n=30) and the middle high differentiation group ( n=57) by the degrees of tumor differentiation. The fluorescence intensity in the low differentiation group was 134.4(128.0, 144.7) a. u. which was significantly different from the middle high differentiation group of 84.8(0, 108.5)a.u. ( Z=-7.52, P<0.001). The median fluorescence intensity of 87 patients with HCC was 108.6 a. u.. Multivariate Cox regression analysis showed that patients with a GPC3 fluorescence intensity ≥108.6 a. u. ( HR=2.07, 95% CI: 1.21-3.53, P=0.008) had a significant increased risk of recurrence after hepatectomy. Conclusion:The expressions of GPC3 in HCC were consistent between the studies by using either a GPC3 specific fluorescent probe or immunohistochemistry studies. A GPC3 fluorescence intensity ≥108.6 a. u. was a risk factor of recurrence after hepatectomy in patients with HCC.

Objective:To summarize the clinical manifestations of a case of combined oxidative phosphorylation deficiency 28 (COXPD-28) caused by the mutations of the SLC25A26 gene, thus providing references for the diagnosis and genetic counseling of the disease. Methods:Clinical data of a case of COXPD-28 treated in the Third Affiliated Hospital of Zhengzhou University in October 2020 were retrospectively analyzed.In addition, The retrieval words " Combined oxidative phosphorylation deficiency 28, SLC25A26 gene" were used to search domestic and foreign databases.The clinical characteristics of combined phosphorylation deficiency 28 and the variation characteristics of SLC25A26 gene were summarized. Results:(1) A female patient full-term delivered after 30 min presented with groaning breath was admitted.Her main manifestations included pale complexion, groaning breathing, metabolic acidosis, and high lactate and pyruvate levels.Symptomatic support treatment like anti-infection and assisted ventilation were given, but her condition gradually worsened and died of respiratory and circulatory failure on the day of admission.The child was compound heterozygous mutation of SLC25A26 gene, the terminating mutation of exon 5 c. 403G>T caused the protein change to p. E135, and the non-synonymous mutation of exon 4 c. 212A>G caused the protein change to p. Y71C.(2) A total of 3 cases of COXPD-28 were searched in online databases, and no cases were reported in China.Through literature review, clinical features of COXPD-28 mainly included respiratory and circulatory fai-lure, elevations of lactate and pyruvate, and reductions of complexes Ⅰ, Ⅲ and Ⅳ in muscle biopsy.Two types of mutations in the SLC25A26 gene were detected, including 3 cases of missense mutations and 1 case of splicing mutation. Conclusions:COXPD-28 is an autosomal recessive genetic disease involving multiple systems and mitochondrial dysfunction.Mutations in the SLC25A26 gene is the pathological cause of COXPD-28.