Objective:To investigate the clinical manifestations, pathological features, and genetic variant characteristics of children with glycogen storage disease type Ⅸa (GSD Ⅸa).Methods:A retrospective case series analysis was conducted to collected and analyzed the medical history, biochemical markers, liver ultrasound results, liver histopathological findings, genotypes, treatment regimens, and follow-up data of 4 pediatric patients diagnosed with GSD IXa in the Department of Infectious Diseases at Xiamen Children′s Hospital from January 2018 to May 2024. All patients were confirmed by genetic testing.Results:All 4 pediatric patients diagnosed with GSD Ⅸa were male. The ages of onset were 8 months, 2 years, 3 years and 3 months, 1 year and 5 months, respectively, with initial presentations including chronic diarrhea (Case 1), incidentally detected transaminase elevation during routine examinations (Cases 2 and 3), and delayed motor development (Case 4). Diagnosis was confirmed at ages 10 months, 3 years, 3 years 4 months and 1 year 6 months, respectively.At diagnosis, anthropometric parameters and biochemical profiles revealed:Height: 68 cm (< P3), 96 cm ( P25-50), 94 cm ( P3-10), and 94 cm ( P3-10).Weight: 7 kg (< P3), 17 kg ( P90-97), 14.4 kg ( P25-50), and 10.5 kg ( P25-50).Alanine aminotransferase: 299, 500, 271, and 313 U/L (reference range 0-40 U/L).Aspartate aminotransferase: 285, 543, 337 and 357 U/L (reference range 0-40 U/L).Fasting glucose: 2.80, 3.67, 2.98, and 3.66 mmol/L (reference range 3.90-6.10 mmol/L).Lactate: 4.3, 2.1, 1.3, and 2.6 mmol/L (reference range 0.5-2.2 mmol/L).Triglycerides: 5.22, 1.38, 1.32, and 1.88 mmol/L (reference range 0.56-1.70 mmol/L).Case 1 exhibited poor adherence to uncooked cornstarch therapy during initial treatment, with no significant improvement in biochemical parameters. Follow-up imaging at age 4 revealed hepatic adenoma. Subsequent improvement in therapeutic compliance led to biochemical normalization, reduced hepatic adenoma size, and growth parameters of 113 cm ( P10-25) and 26 kg ( P90-97) at 6 years 2 months. Cases 2-4 demonstrated biochemical improvement with regular uncooked cornstarch therapy and no evidence of hepatic adenoma.Liver histopathology in Cases 1-3 confirmed glycogen accumulation consistent with GSD, without cirrhotic changes. Genetic analysis identified PHKA2 variations in all cases: 2 missense variants, 1 frameshift variant and 1 nonsense variant. The c.2839dup and c.3267G>A variants represent novel pathogenic mutations. Conclusions:GSD Ⅸa in pediatric patients is predominantly characterized by hepatomegaly, hepatic dysfunction, and hypoglycemia. While uncooked cornstarch therapy typically yields favorable prognoses, a subset of patients may develop hepatic adenomas. Notably, children with hepatic adenoma exhibited younger age of onset, significant growth retardation, and more severe metabolic disturbances, suggesting that hepatic adenoma development may be closely linked to the severity of metabolic dysregulation.

Objective:To investigate the clinical manifestations, pathological features, and genetic variant characteristics of children with glycogen storage disease type Ⅸa (GSD Ⅸa).Methods:A retrospective case series analysis was conducted to collected and analyzed the medical history, biochemical markers, liver ultrasound results, liver histopathological findings, genotypes, treatment regimens, and follow-up data of 4 pediatric patients diagnosed with GSD IXa in the Department of Infectious Diseases at Xiamen Children′s Hospital from January 2018 to May 2024. All patients were confirmed by genetic testing.Results:All 4 pediatric patients diagnosed with GSD Ⅸa were male. The ages of onset were 8 months, 2 years, 3 years and 3 months, 1 year and 5 months, respectively, with initial presentations including chronic diarrhea (Case 1), incidentally detected transaminase elevation during routine examinations (Cases 2 and 3), and delayed motor development (Case 4). Diagnosis was confirmed at ages 10 months, 3 years, 3 years 4 months and 1 year 6 months, respectively.At diagnosis, anthropometric parameters and biochemical profiles revealed:Height: 68 cm (< P3), 96 cm ( P25-50), 94 cm ( P3-10), and 94 cm ( P3-10).Weight: 7 kg (< P3), 17 kg ( P90-97), 14.4 kg ( P25-50), and 10.5 kg ( P25-50).Alanine aminotransferase: 299, 500, 271, and 313 U/L (reference range 0-40 U/L).Aspartate aminotransferase: 285, 543, 337 and 357 U/L (reference range 0-40 U/L).Fasting glucose: 2.80, 3.67, 2.98, and 3.66 mmol/L (reference range 3.90-6.10 mmol/L).Lactate: 4.3, 2.1, 1.3, and 2.6 mmol/L (reference range 0.5-2.2 mmol/L).Triglycerides: 5.22, 1.38, 1.32, and 1.88 mmol/L (reference range 0.56-1.70 mmol/L).Case 1 exhibited poor adherence to uncooked cornstarch therapy during initial treatment, with no significant improvement in biochemical parameters. Follow-up imaging at age 4 revealed hepatic adenoma. Subsequent improvement in therapeutic compliance led to biochemical normalization, reduced hepatic adenoma size, and growth parameters of 113 cm ( P10-25) and 26 kg ( P90-97) at 6 years 2 months. Cases 2-4 demonstrated biochemical improvement with regular uncooked cornstarch therapy and no evidence of hepatic adenoma.Liver histopathology in Cases 1-3 confirmed glycogen accumulation consistent with GSD, without cirrhotic changes. Genetic analysis identified PHKA2 variations in all cases: 2 missense variants, 1 frameshift variant and 1 nonsense variant. The c.2839dup and c.3267G>A variants represent novel pathogenic mutations. Conclusions:GSD Ⅸa in pediatric patients is predominantly characterized by hepatomegaly, hepatic dysfunction, and hypoglycemia. While uncooked cornstarch therapy typically yields favorable prognoses, a subset of patients may develop hepatic adenomas. Notably, children with hepatic adenoma exhibited younger age of onset, significant growth retardation, and more severe metabolic disturbances, suggesting that hepatic adenoma development may be closely linked to the severity of metabolic dysregulation.

Objective:To investigate the predictive value of the quantitative parameters of dual-layer detector spectral CT in arterial and venous phases for the differentiation degree and the E-cadherin protein expression of gastric cancer.Methods:This was a cross-sectional study. The preoperative data from the dual-layer detector spectral CT images among 183 patients with gastric adenocarcinoma confirmed by operation and pathology was retrospectively analyzed from October 2021 to October 2022 in the First Affiliated Hospital of Fujian Medical University. According to the differentiation degree and E-cadherin protein expression of gastric cancer, all patients were divided into the moderately well differentiated group ( n=82) and the poorly differentiated group ( n=101), as well as the E-cadherin-negative group ( n=80) and the E-cadherin-positive group ( n=103). The CT images in arterial and venous phases were used to reconstruct the virtual monoenergetic images (VMI) at 40, 50, 60, 70, 80, 90, and 100 keV, effective atomic number (Z eff) images and iodine concentration (IC) images. The CT values (CT keV) from VMI, Z eff and IC were measured, and the normalized Z eff (NZ eff) and the normalized IC (NIC) were calculated. Independent-sample t test or Mann-Whitney U test were used to compare the differences in quantitative parameters between groups. The logistic regression analysis was used to screen for the independent predictors, after which a combined prediction model was constructed. The receiver operating characteristic curves were used to evaluate the predictive efficiency of the parameters for the differentiation degree and the E-cadherin protein expression of gastric cancer. Results:There were statistically significant differences in CT 40 keV to CT 70 keV, NZ eff and NIC in dual-phase, as well as Z eff and IC in the venous phase between the moderately well differentiated group and the poorly differentiated group ( P<0.05). The combined prediction model was constructed by CT 40 keV ( OR=1.03, 95% CI 1.02-1.05, P<0.001) in arterial phase and CT 40 keV ( OR=1.05, 95% CI 1.03-1.07, P<0.001) and Z eff ( OR=1.32, 95% CI 1.06-1.65, P=0.015) in venous phase, of which the area under the curve (AUC) for the prediction of the moderately-well group and the poor group was 0.932 (95% CI 0.897-0.967), with a sensitivity of 90.1% and a specificity of 85.4%. Between the E-cadherin-negative group and the E-cadherin-positive group, CT 40 keV and NZ eff in arterial phase, as well as CT 40 keV to CT 70 keV, Z eff, NZ eff, IC and NIC in venous phase, had statistically significant differences ( P<0.05). The AUC for the combined prediction model established by CT 40 keV ( OR=1.02, 95% CI 1.01-1.04, P<0.001) and Z eff ( OR=1.33, 95% CI 1.09-1.63, P=0.006) in venous phase was 0.800 (95% CI 0.736-0.864), with a sensitivity of 95.0% and a specificity of 60.2%. Conclusion:The combined prediction model from the quantitative parameters of dual-layer spectral detector CT can be used to predict the differentiation degree and the E-cadherin protein expression of gastric cancer preoperatively.

Objective:To study the change of bifrontal metabolite concentration in patients with mild cognitive impairment (MCI) and its relationship with substantia alba demyelination using magnetic resonance spectroscopy (MRS) combined with linear combination of model (LCModel) quantitative technique.Methods:From May 2016 to December 2018, 25 patients with MCI (group A; 12 males, 13 females, age (60.5±5.2) years) and 15 healthy control subjects (group B; 6 males, 9 females, age (59.5±3.5) years) in the Second Affiliated Hospital of Shantou University Medical College were prospectively enrolled. The MCI patients were classified into 2 subgroups according to MRI results: group A1 with substantia alba demyelination (7 males, 4 females, age (62.1±3.9) years) and group A2 without substantia alba demyelination (5 males, 9 females, age (59.2±5.8) years). Software LCModel was used to quantitatively analyze the MRS original data and measure the absolute concentration of N-acetylaspartate compound (NAA), creatine compound (Cr), choline-containing compound (Cho), myoinositol (mI) and ratios of NAA/Cr, Cho/Cr, mI/Cr, NAA/mI in bilateral frontal lobe. Independent-sample t test was used to analyze the inter-group differences of the above parameters, while Pearson correlation analysis was performed to analyze correlations between the above parameters and cognitive function scores. Results:Compared with group B, group A had higher mI of both left and right frontal lobes (left: (5.19±1.28) vs (4.32±0.83), right: (4.87±1.11) vs (3.85±0.98); t values: 2.34, 2.93, both P<0.05); the mI/Cr of right frontal lobe in group A was also higher (1.19±0.31 vs 0.98±0.25; t=2.21, P<0.05), while the NAA/mI of right frontal lobe was lower (1.37±0.34 vs 1.78±0.47; t=-3.16, P<0.01). Differences of other parameters between group A and group B, and those between group A1 and group A2 were not significantly different ( t values: -1.70 to 1.35, all P>0.05). The mI of right frontal lobe was negatively correlated with Montreal Cognitive Assessment (MoCA) score and Mini-Mental State Examination (MMSE) score( r values: -0.35, -0.38, both P<0.05), on the contrary, NAA/mI of right frontal lobe was positively correlated with the cognitive function scores ( r values: 0.43, 0.40, both P<0.05). Conclusion:MCI may be related to the loss or dysfunction of neurons in the right frontal lobe, and MRS can provide theoretical basis for early recognition of MCI to some extent.

Objective To explore the value of the cavum vergae vanishing sign for prenatal ultrasound diagnosis of fetal agenesis of the corpus callosum ( ACC ) . Methods Fifty-one cases of ACC of 20 - 32 gestational weeks were confirmed by MRI or induced fetal autopsy . A random selection of 80 normal fetuses of 20 - 32 gestational weeks were chosed as control group . The displays of the cavum septum pellucidum ( CSP) and the cavum vergae( CV ) in the two groups were observed . Results There were 36 cases of complete agenesis of the corpus callosum ( CACC) and 15 cases of partial agenesis of the corpus callusom ( PACC) in ACC group . In 51 ACC cases ,43 cases were confirmed by prenatal MRI ,while 8 cases were confirmed by postnatal MRI . The comparison of display of CSP and CV between the ACC group and the health group was as follows : ① CSP vanishing rate in ACC group was 70 .6％ ( 36/51 ) ,meanwhile the disappearance rate of CSP in the health group was 0 ( 0/80 ) ,the difference between the two groups was statistically significant( χ2 = 77 .870 , P = 0 .000) . ② CV vanishing rate in ACC group was 96 .1％ (49/51) , meanwhile the disappearance rate of CV in the health group was 1 .2％ ( 1/80) ,the difference between the two groups was statistically significant ( χ2 = 118 .673 , P = 0 .000) . The correlation coefficient between the CV vanishing sign and the occurrence of ACC was 0 .952 ( P = 0 .000) ,while the correlation coefficient between the CSP vanishing sign and the occurrence of ACC was 0 .771 ( P = 0 .000) . There were significant differences in CSP disappearance rate and CV disappearance rate between ACC group and control group at different gestational weeks ( 20 - 24 weeks ,25 - 28 weeks and 29 - 32 weeks) ( all P < 0 .001) . Conclusions The cavum vergae vanishing sign ,as an important indirect sign of fetal agenesis of the corpus callosum ,can be obtained quickly from horizontal transverse section of the cavum septum pellucidum . During the middle pregnancy ,it could be an important prenatal ultrasound screening clue for fetal agenesis of the corpus callosum .

Objective To observe the correlation between CD4+ CD29+ T cells and metastasis and radiotherapy for patients with pulmonary adenocarcinoma. Method Seventy-one patients with lung adenocarcinoma, 93 patients with lung adenocarcinoma ,76 cases of chronic obstructive pulmonary disease (COPD),63 cases of healthy volunteers were enrolled. Frequencies of blood CD4+ CD29+ T cells and their intracellular necrosis factor alpha(TNF-α)and interleukin 1(IL-1)were compared. Compare TNF-α,IL-1,integrin beta 1 and vascular endothelial growth factor(VEGF)levels in the patients with transferred pulmonary adenocarcinoma or with non-transferred pulmonary adenocarcinoma and their changes with the treatment of radiotherapy. Results the patients with lung adenocarcinoma and non lung adenocarcinoma were significantly higher than that of COPD and health group,and patients with lung adenocarcinoma is significantly higher than patients with non lung adenocarcinoma (P<0.05);Integrin beta 1,VEGF and CD4+CD29+T cells,TNF-αand IL-1 level in patients with lung adeno-carcinoma metastasis were significantly higher than non-transferred group(P < 0.05);After radiotherapy,CD4+CD29+T cells,TNF-αand IL-1 in patients with lung adenocarcinoma were significantly lower than before(P<0.05);CD4+ CD29+ T cells,TNF alpha and IL-1 with integrin beta 1 and VEGF had significantly positive correlations. Conclusion CD4+CD29+T cells and cytokines increase significantly in the blood of patients with lung adenocarci-noma,and are related to the prognosis of metastasis and radiation therapy,which has important clinical significance.

Objective To explore the direct economic loss caused by healthcare-associated infection(HAI)in general hospitals in China.Methods 68 hospitals were selected,a retrospective 1:1 matched survey was conducted to compare the direct medical cost in patients with and without HAI between January 1,2015 and December 31,2015. Results A total of 2 123 pairs of patients with and without HAI were included in the survey.The average cost of hospitalization in HAI and non-HAI groups were ￥25 845.30 and ￥12 006.14 respectively,￥13 839.16 on average was increased due to HAI.The average economic loss in provincial and ministerial levels of hospitals were￥21 409.83.The average economic loss in different regional hospitals were ￥9 725.42-￥18 909.59,and north China ranked the first.Economic loss caused by bloodstream infection and lower respiratory tract infection were more than other sites,which were ￥23 190.09 and ￥18 194.50 respectively.Conclusion HAI resulted in considerable direct economic loss.Prevention and control of HAI,especially bloodstream infection and lower respiratory tract infection should be paid more attention.

Objective To evaluate the efficacy and toxicity of induction chemotherapy with nedaplatin and docetaxel plus concurrent intensity?modulated radiotherapy ( IMRT) with nedaplatin or cisplatin in the treatment of locally advanced nasopharyngeal carcinoma (NPC). Methods A total of 223 patients with pathologically diagnosed locally advanced NPC in five treatment centers from 2011 to 2012 were randomly divided into two groups. In the test group, one hundred and thirteen patients received two cycles of induction chemotherapy with docetaxel (65 mg/ m2 on day 1) and nedaplatin (80 mg/ m2 on day 1) plus concurrent IMRT with nedaplatin (40 mg/ m2 on day 1). In the control group, 110 patients received two cycles of induction chemotherapy with the same regimens plus concurrent IMRT with cisplatin (40 mg/ m2 on day 1). The survival rates were calculated with the Kaplan?Meier method and the differences in the survival rates between the two groups were analyzed using the log?rank test. Comparison of the incidence rates of adverse reactions between the two groups was made by the chi?square test. Results The follow?up rate was 99?? 1%.The response rates at 3 months after treatment in the two groups were both 100%. The 2?year local recurrence?free, regional recurrence?free, distant metastasis?free, and overall survival rates were 94?? 0%, 94?? 2%, 88?? 2%, and 90?? 3%, respectively, in the test group, versus 93?? 4%, 94?? 1%, 86?? 7%, and 87?? 3% in the control group ( P= 0?? 757、 0?? 478、 0?? 509、 0?? 413). The incidence rates and severity of leucopenia, neutropenia, and thrombocytopenia were significantly higher in the test group than in the control group ( P= 0?? 027 , 0?? 028 , 0?? 035 ) . The incidence rates and severity of hemoglobin reduction and nausea /vomiting were significantly lower in the test group than in the control group (P= 0?? 000,0?? 023). There were no significant differences in the incidence rates of mucositis and xerostomia between the two groups ( P=0?? 483,0?? 781). Conclusions The short?term efficacy of induction chemotherapy with nedaplatin and docetaxel plus concurrent IMRT with nedaplatin is similar to that with cisplatin in the treatment of locally advanced NPC. The mild gastrointestinal reactions can be tolerated by patients. However, the severe myelosuppression should be closely monitored during the treatment.

Objective:To investigate the content and mode of pharmaceutical care for the patients with severe burn and promote the rational use of drugs. Methods:Taking the treatment for one patient with severe burn as example,pharmacists provided pharmaceu-tical care in respects of anti-infection therapy,organ preservation,nutritional support, drug interactions, drug precautions, drug incom-patibility, adverse drug reactions and the effect evaluation . Results:The program of rational drug use was provided for clinics through the implementation of pharmaceutical care. The vital signs of the patient were stable, and then the patient left on pass and continued to be treated with rehabilitation therapy. Conclusion:It is necessary for clinical pharmacists to perform pharmaceutical care for the pa-tients with severe burn,reduce the abuse of drugs and improve the medication safety and effectiveness. Meanwhile, the collaborative service of doctors,pharmacists,nurses and inspectors to patients reflects the value of clinical pharmacists.

Background and objectiveLung cancer is the leading cause of cancer-related deaths worldwide, and metastasis is the major cause of death in lung cancer patients. MiR-373 is closely associated with invasion and metastasis in other tumor cells. hTis study explored the expression of miR-373-3p in non-small cell lung cancer (NSCLC) and its effect on the invasive and metastatic capabilities of lung adenocarcinoma cells, as well as their mechanisms of action.MethodshTe expression of miR-373-3p in NSCLC tissues and lung adenocarcinoma cell lines was detected by quantitative reverse transcrip-tion polymerase chain reaction. hTe roles of miR-373-3p in regulating lung adenocarcinoma cell invasion and metastatic prop-erties were analyzed with miR-373-3p mimic/inhibitor-transfected cells via Transwell chamber assay. Matrix metalloproteinase MMP-9 and MMP-14 protein levels were detected by Western blot in lung cancer cells atfer transfection.Results MiR-373-3p was upregulated in 51 NSCLC tissues and 5 NSCLC cell lines. Gain-of-function and loss-of-function studies showed that overexpression of miR-373-3p promoted H1299 cell migration and invasion, which resulted in upregulation of MMP-9 and MMP-14. By contrast, miR-373-3p knockdown inhibited these processes in A549 cells and downregulated the expression of MMP-9 and MMP-14.ConclusionOur results demonstrated that miR-373-3p participated in the invasion and metastasis of lung adenocarcinoma cells, partly by upregulation of MMP-9 and MMP-14.