Objective To identify a novel pathogenicity mutation of acid alpha‐glucosidase(GAA) gene in a Chinese family with two siblings affected with juvenile onset form glycogen storage disease Ⅱ(GSD Ⅱ) .Methods The clinical and family data of two siblings presenting recurrent respiratory tract infections ,respiratory failure associated with systemic muscle weakness ,were an‐alyzed and diagnosed with GSD Ⅱ by detecting alpha‐1 ,4‐glucosidase activity .DNA was extracted from peripheral blood of the proband ,younger brother and his parents .All 20 exons and the intron‐exon splice sites of GAA gene were amplified by polymerase chain reaction (PCR) .Mutations were detected by direct sequencing the PCR products .Results The younger brother was found to be compound heterozygous for two mutations in the GAA gene :c .1216G>A (p .Asp406Asn) missense mutation in the exon 8 from his father and c .1935C>A (p .Asp645Glu) missense mutation in the exon 14 from his mother .Conclusion The compound hetero‐zygous c .1216G>A and c .1935C>A mutations caused the juvenile onset form GSD Ⅱ characterized by dyspnea and cardiac hyper‐trophy .The novel c .1216G>A mutation may be related to the juvenile onset form GSD Ⅱ .

Objective To investigate the clinical characteristics, diagnosis, treatment and prognosis of hepatic angiomyolipoma (HAML). Methods The clinical data of 14 patients with hepatic angiomyolipoma admitted in our hospital from 1989 to 2007 were analyzed retrospectively. Result There were 4 male patients and 10 female patients. Median age was 41 years old. The lesions located in right lobe in 8 patients, and in left lobe in 6 patients. B-US was taken in 12 patients before operation, and other examinations included CT in 8 patients, MRI in 7 patients and angiography in 2 patients. Five patients were diagnosed with HAML by imagine features. Fine needle biopsy was taken in 1 patient with no definite diagnosis. All patients underwent resection and got the histopathologic diagnosis with HAML. All specimens were HMB-45 positive. S-100 and SMA were tested in 7 and 6 patients respectively, and were positive in all those patients. All cases were followed up for 6 months to 18 years (median time was 3 years). 13 patients were still alive without recurrence and 1 patient died of postoperative DIC and heart failure. Conclusion There was marked female predominance in HAML. Imaging features are helpful for preoperative diagnosis of HAML, but correct diagnosis was achieved in only a fraction of patients. HMB-45 positive was definitive proof for histopathologic diagnosis of HAML. Hepatectomy was an effective treatment for HAML.

Objective:To explore the efficacy and safety of Rasburicase therapy in critically ill children su-ffering from advanced Burkitt′s lymphoma.Methods:A retrospective analysis of children with advanced Burkitt′s lymphoma was admitted to Pediatric Intensive Care Unit, the First Affiliated Hospital of Sun Yat-Sen University, from January 2015 to May 2020 and accepted treatment.According to the uric acid-lowering therapies, patients were divided into 2 groups, namely Rasburicase group (Group R) and traditional treatment group (Group T), to compare the effects of hypouricemic treatment and the prognosis between the 2 groups.Results:Twenty-nine children with advanced Burkitt′s lymphoma were included in this study, with 13 cases (44.83%) of stage Ⅲ and 16 cases (55.17%) of stage Ⅳ.Abdominal mass/ abdominal distension (13 cases, 44.83%) and abdominal pain (7 cases, 24.14%) were the main reasons of initial medical visit attendance.The most common primary tumor site was abdominal/ pelvic cavity (21 cases, 72.41%), followed by head or neck (6 cases, 20.69%). There were 15 cases in Group R and 14 cases in group T. No significant differences in serum creatinine, lactate dehydrogenase and uric acid were detected between the 2 groups (all P>0.05). The proportion of serum uric acid recovery rate of 24 hours and 72 hours after initial treatment in Group R were significantly higher than those in T group (85.71% vs.25.00%, 100.00% vs.25.00%, all P<0.01). Although there were no obvious differences in the incidence of tumor lysis syndrome between the 2 groups (33.33% vs.64.29%, P=0.096), the incidence of acute renal injury, renal replacement therapy requirement, serious complications and the 28 day mortality in Group R were remarkably lower than those in Group T (33.33% vs.85.71%, 13.33% vs.64.29%, 20.00% vs.78.57%, 0 vs.35.71%, all P< 0.05). Conclusions:Rasburicase can effectively reduce the serum uric acid level and decrease the incidence of acute kidney injury and other severe complications, thus improving the prognosis of children experiencing advanced Burkitt′s lymphoma.

Objective To investigate the suitable treatment of post operative anastomotic recurrence after anterior resection of rectal cancer and analyze the relationship between different kinds of therapy with prognosis. Methods The clinical data of 41 cases of local recurrent rectal cancer after anterior resection admitted in our hospital from 1999 to 2009 were analyzed retrospectively. The median survival time and survival rate were calculated by Life Tables method. The influence of different kinds of treatment to prognosis was evaluated by Kaplan-Meier method and the variability was analyzed by Log-rank method. P <0.01 means statistical significance. Results Thirty-three (80.5 %) of 41 patients were recurrent in the first 3 years and the median survival time was 23 months. Seventeen (41.5 %) of 41 patients underwent radical R0 resection. The median survival time of radical resection patients and non-radical resection ones were 49 months and 18 months, respectively, and the difference was significant (χ2=12.245, P=0.000). Thirty-one patients with radiotherapy and/or chemotherapy showed a statistically longer median survival time than the other 10 patients without these adjuvant treatment (39 months and 9 months, respectively) (χ2=17.533, P =0.000). Conclusion Most post operative anastomotic recurrent of rectal cancer cases occurs in the first 3 years after primary surgery. Radical resection, radiotherapy and chemotherapy can improve the prognosis.

Objective To investigate the clinical characteristics and analyze prognostic risk factors of combined hepatocellular-cholangiocarcinoma. Methods The clinical data of 19 cases of combined hepatocellular-cholangiocarcinoma admitted in our hospital from January 1999 to December 2009 were analyzed retrospectively. The survival function was analyzed by Kaplan-Meier. The possible prognostic risk factors were tested by χ2-test. Results Hepatocellular-cholangiocarcinoma was diagnosed by pathology in the 19 patients, among which hepatic tunic was infiltrated in 13 cases, peritoneum involved in 1 case, intravascular cancer embolus in 1 case. At that time lymphocyte nodes metastasis in 2 cases were found by regional lymphadenectomy in 7cases. The 1-year and 3-year survival rates were 61% and 42%,respectively. Prognosis of patients with tumor size ＞ 5 cm ( χ2 = 4. 392, P = 0. 036 ), history of heavy drinking ( χ2 = 11.010, P = 0.001 ) or intraoperative blood transfusion ( χ2 = 4. 645,P = 0. 031 ) were worse than others. Conclusion It was difficult to get correct preoperative diagnosis of combined hepatocellularcholangiocarcinoma. Tumor size, history of heavy drinking and blood transfusion were all prognostic related risk factors.

According to the 2015 American Heart Association guideline and 2016 European Pediat-rics Pulmonary Vascular Disease Network expert consensus statement for pulmonary hypertension,the impor-tance of early identification and standard treatment in pulmonary hypertension had been emphasized. The guidelines also introduced the drugs and precautions in pulmonary hypertension treatment. These may play an important role in the management of pulmonary hypertension.

Objective To assess the performance of pediatric clinical illness score (PCIS), pediatric risk of mortality scoreⅢ(PRISMⅢ), pediatric logistic organ dysfunction score 2 (PELOD-2), and pediatric multiple organ dysfunction score (P-MODS) in predicting mortality in critically ill pediatric patients. Methods The data of critically ill pediatric patients admitted to Pediatric Intensive Care Unit (PICU) of First Affiliated Hospital of Sun Yat-Sen University from August 2012 to May 2017 were retrospectively analyzed. The gender, age, basic diseases, the length of PICU stay were collected. The children were divided into survival group and non-survival group according to the clinical outcome during hospitalization. The variables of PCIS, PRISMⅢ, PELOD-2, and P-MODS were collected and scored. Receiver operating characteristic (ROC) curve was plotted, the efficiency of PCIS, PRISMⅢ, PELOD-2, and P-MODS for predicting death were evaluated by the area under ROC curve (AUC). Hosmer-Lemeshow goodness of fit test was used to evaluate the fitting degree of each scoring system to predict the mortality and the actual mortality. Results Of 461 critically ill children, 35 children were excluded because of serious data loss, hospital stay not exceeding 24 hours, and death within 8 hours after admission. Finally, a total of 426 pediatric patients were enrolled in this study. 355 pediatric patients were survived, while 71 were not survived during hospitalization, with the mortality of 16.7%. There was no significant difference in gender, age, underlying diseases or length of PICU stay between the two groups. PCIS score in non-survival group was significantly lower than that of survival group [80 (76, 88) vs. 86 (80, 92)], and PRISMⅢ, PELOD-2 and P-MODS scores were significantly increased [PRISMⅢ: 16 (13, 22) vs. 12 (10, 15), PELOD-2: 6 (5, 9) vs. 4 (2, 5), P-MODS: 6 (4, 9) vs. 3 (2, 6), all P < 0.01]. ROC curve analysis showed that the AUCs of PCIS, PRISMⅢ, PELOD-2, and P-MODS for predicting death of critical ill children were 0.649, 0.731, 0.773, and 0.747, respectively. Hosmer-Lemeshow test showed that PCIS predicted the mortality and the actual mortality in the best fitting effect (χ2= 7.573, P = 0.476), followed by PELOD-2 and P-MODS (χ12 = 9.551, P1= 0.145; χ22 = 10.343, P2= 0.111), while PRISMⅢ had poor fitting effect (χ2= 43.549, P < 0.001). Conclusions PRISMⅢ, PELOD-2 and P-MODS can discriminate between survivors and moribund patients well, and assessing the condition of critically ill pediatric patients with relatively accuracy. PCIS was the best fitting effect in predicting mortality and actual mortality, followed by PELOD-2 and P-MODS, while PRISMⅢ had poor fitting effect.

Objective:To analyze the application effect of information health education combined with teach-back method in patients with posterior fossa tumor during perioperative period and provide experience and reference for clinical practice.Methods:From March 2022 to October 2022, a total of 80 patients diagnosed as posterior fossa tumors in the neurosurgery department were divided into a control group and an experimental group, with 40 patients in each group to conduct an experimental research, based on the length of hospitalization. The control group was given the conventional health education combined with the teach-back method, and the experimental group was given the information health education combined with the teach-back method. The scores of standard swallowing assessment, quality of life, awareness score of health education and incidence of respiratory aspiration were compared between the two groups.Results:On the 7th day after surgery and 1 day before discharge, the standard swallowing score of the experimental group were 25.29 ± 2.21 and 22.97 ± 3.36, which was significantly lower than that of the control group 26.45 ± 2.01 and 24.92 ± 3.56, ( t=2.44, 2.52, both P<0.05). The total score of quality of life on the day before discharge was 64.55 ± 4.27, significantly higher than 61.80 ± 4.82 in the control group, with a statistically significant difference ( t=-2.09, P<0.05). The patients in the experimental group were familiar with preoperative guidance, various dietary requirements, various drug effects and precautions, the prevention of various complications, various rehabilitation training methods, and the purpose and precautions of the head drainage tube, with the score of 4.70 ± 0.56, 4.52 ± 0.71, 4.65 ± 0.57, 4.67 ± 0.52, 4.72 ± 0.50, 4.77 ± 0.47, were higher than the control group 3.40 ± 1.05, 3.62 ± 0.97, 3.77 ± 0.94, 3.80 ± 0.88, 3.75 ± 0.89, 3.92 ± 0.88. The difference was statistically significant ( t values were -6.86 to -4.69, all P<0.05). The incidence of respiratory aspiration in experimental group was 0, significantly lower than that in control group 12.5%(5/40) ( χ2=5.33, P<0.05). Conclusions:The application of information health education combined with back teaching can improve the quality of life, health education awareness rate and reduce the incidence of aspiration in patients with posterior fossa tumor.

Objective:To compare the consistency in diagnosing and staging acute kidney injury (AKI) in children with chronic kidney disease (CKD) according to three criterias.Methods:Children with CKD hospitalized in the First Affiliated Hospital of Sun Yat sen University from January 2013 to December 2019 were analyzed retrospectively. These patients underwent serum creatinine examination more than twice during hospitalization. The AKI diagnosis and staging were performed for each patient according to the 2007 pRIFLE, 2012 KDIGO and 2018 pROCK criteria respectively. All the children were followed up for 1 year after discharge through outpatient visit, re-hospitalization or online consultation. The clinical characteristics and prognosis of CKD children with or without AKI that were diagnosed by 3 criteria were compared. Analysis of variance and chi-squared tests were used for the comparison among groups. Concordance between the different diagnostic criteria was evaluated using Cohen′s kappa coefficient.Result:A total of 2 551 children with CKD were included in this study, with an age of (8±4) years. There were 1 628 boys and 923 girls. Nephrotic syndrome was the most prevalent primary disease (55.4%), followed by lupus nephritis (11.2%) and purpura nephritis (8.2%). Among all stages of CKD, CKD category G1 was the most common type (2 146 cases, 84.1%), followed by CKD category G2 (221 cases, 8.7%). AKI occurence rates according to pRIFLE, KDIGO and pROCK criteria were 33.9% (866/2 551), 26.2%(669/2 551) and 19.5% (498/2 551) respectively (χ2=136.3, P<0.01). The diagnostic consistency within three criteria for AKI was high in children with CKD ( κ=0.702), but AKI staging consistency was low ( κ=0.329). Both the diagnosis and staging consistency of three AKI criteria were poor in children with CKD category G5 (all κ<0.400). The length of hospital stay (LOS), hospitalization costs, the occurence of intensive care unit (ICU) admission and in-hospital mortality were significantly higher in children with AKI diagnosed by different criteria ( P<0.05). After 1-year follow-up, the repeated admission rate and CKD staging progress significantly increased in children with AKI ( P<0.05). In children with baseline serum creatinine≥200 μmol/L, compared with children who did not experience AKI during hospitalization, the LOS and the hospitalization costs in children who were diagnosed AKI according to pRIFLE or pROCK criteria was significantly higher ( P<0.05). However, there was no significant difference in the LOS and hospitalization costs between children with or without AKI who were diagnosed according to KDIGO criteria (all P>0.05). Conclusions:AKI diagnosed by all of the three criteria (pRIFLE, KDIGO and pROCK criteria) was associated with the poor prognosis in children with CKD. However, in those whose baseline serum creatinine≥ 200 μmol/L, AKI diagnosed by pRIFLE and pROCK criteria could better reflect the poor outcomes than by KDIGO criteria.

Objective To develop a rapid and accurate Monte Carlo program(simplified code for dosimetry of carbon ions,SPEEDO)for carbon ion therapy.Methods For electromagnetic process,type Ⅱ condensed history simulation scheme and continuous slowing down approximation were used to simulate energy straggling,range straggling,multiple scattering,and ionization processes.For nuclear interaction,5 types of target nuclei were considered,including hydrogen,carbon,nitrogen,oxygen,and calcium.The produced secondary charged particles followed the same condensed history framework.The study simulated the transport of carbon ions in 4 materials(water,soft tissues,lung,and bone),and the calculated doses were validated against TOPAS(a Monte Carlo simulation software for radiotherapy physics),followed by a comparison with dose measurements in a water phantom from the HIMM-WW(a medical heavy-ion accelerator facility in Wuwei).Results SPEEDO's simulation results showed good consistency with TOPAS.For each material,in the voxel region where the physical dose was greater than 10％of the maximum dose point,the relative maximum dose error of both was less than 2％.At treatment energy of 400 MeV/u,SPEEDO's computation time was significantly less than that of TOPAS(13.8 min vs 105.0 min).SPEEDO's calculation results also showed good agreement with HIMM-WW measurements in terms of lateral dose distribution and integrated dose depth curve.Conclusion SPEEDO program can accurately and rapidly perform Monte Carlo dose calculations for carbon-ion therapy.