Cardiac function evaluation in children with spinal muscular atrophy: A case-control study.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons, resulting in progressive muscle weakness and atrophy. However, little is known regarding the cardiac function of children with SMA. METHODS: We recruited SMA patients younger than 18 years of age from January 1, 2022, to April 1, 2022, in the First Affiliated Hospital of Sun Yat-sen University. All patients underwent a comprehensive cardiac evaluation before treatment, including history taking, physical examination, blood tests of cardiac biomarkers, assessment of echocardiography and electrocardiogram. Age/gender-matched healthy volunteers were recruited as controls. RESULTS: A total of 36 SMA patients (26 with SMA type 2 and 10 with SMA type 3) and 40 controls were enrolled in the study. No patient was clinically diagnosed with heart failure. Blood tests showed elevated values of creatine kinase isoenzyme M and isoenzyme B (CK-MB) mass and high-sensitivity cardiac troponin T (hs-cTnT) in spinal muscular atrophy (SMA) patients. Regarding echocardiographic parameters, SMA children were detected with lower global left and right ventricular longitudinal strain, abnormal diastolic filling velocities of trans-mitral and trans-tricuspid flow. The results revealed no clinical heart dysfunction in SMA patients, but subclinical ventricular dysfunction was seen in SMA children including the diastolic function and myocardial performance. Some patients presented with elevated heart rate and abnormal echogenicity of aortic valve or wall. Among these SMA patients, seven patients (19.4%) had scoliosis. The Cobb's angles showed a significant negative correlation with LVEDd/BSA, but no correlation with other parameters, suggesting that mild scoliosis did not lead to significant cardiac dysfunction. CONCLUSIONS: Our findings warrant increased attention to the cardiac status and highlight the need to investigate cardiac interventions in SMA children.

Exploration of Protective Factors Affecting Postoperative Natural Pregnancy in Patients with Endometriosis.

Objective: This study aimed to analyze the factors affecting natural pregnancy in patients with endometriosis (EMs) and to identify corresponding nursing measures. Understanding these factors is crucial as it may offer insights into improving fertility outcomes and enhancing the overall well-being of individuals with EMs. By identifying effective nursing measures, we hope to contribute to the development of targeted interventions that can positively impact the reproductive health of these patients. Methods: The clinical data of 147 patients with EMs who were admitted to our hospital from April 2018 to April 2020 were retrospectively analyzed. The analysis included a comprehensive examination of various key factors and parameters, such as demographic information, disease severity, surgical outcomes, and postoperative complications. All patients underwent laparoscopic conservative surgery in our hospital, and the analysis was conducted over a follow-up period of 2 years after discharge. Results: The two groups exhibited significant differences in the following factors: (1) Factors with significant differences (P < .05): Age, dysmenorrhea, duration of menstrual cramps, history of uterine cavity operation, combined gynecological inflammation, r-AFS stage, postoperative GnRH-a treatment, and EFI score. (2) Factors with no significant differences (P > .05): Uterine fibroids, endometrial polyps, affected side of the lesion, and postoperative ovulation-inducing drugs. (3) Protective Factors for Postoperative Natural Pregnancy in EMs Patients (P < .05): No history of dysmenorrhea, postoperative GnRH-a treatment, and high EFI score. (4) Risk factors affecting natural pregnancy after EMs patients (P < .05): Age ≥ 35 years, duration of menstrual cramps < 3 days, history of uterine cavity operations ≥ 2 times, gynecological inflammation, and r-AFS stage III-IV. Conclusions: Regarding nursing measures based on patient information, clinical nursing intervention can be carried out by strengthening the education of related knowledge such as reproductive health, maintaining the patient's menstrual cycle, guiding patients to apply GnRH-a treatment, and designing individualized nursing care for patients with high-risk factors. Among there, continuous monitoring and follow-up care, particularly for patients with risk factors, can contribute to ongoing assessment and timely intervention. Regular check-ins with high-risk patients can facilitate early identification of potential challenges and enable the adjustment of care plans as needed. Furthermore, nurses should establish a schedule for regular check-ins with high-risk patients, facilitating ongoing communication and rapport-building. These interventions can help patients improve the probability of natural pregnancy after surgery.

Causal links between sedentary behavior, physical activity, and psychiatric disorders: a Mendelian randomization study.

BACKGROUND: Studies suggest a correlation between excessive sedentary behavior, insufficient physical activity, and an elevated likelihood of experiencing psychiatric disorder. Nonetheless, the precise influence of sedentary behavior and physical activity on psychiatric disorder remains uncertain. Hence, the objective of this research was to investigate the possible causal relationship between sedentary behavior, physical activity, and the susceptibility to psychiatric disorder (depression, schizophrenia and bipolar disorder), utilizing a two-sample Mendelian randomization (MR) approach. METHODS: Potential genetic instruments related to sedentary leisure behaviors were identified from the UK Biobank database, specifically a summary-level genome-wide association study (GWAS) involving 422,218 individuals of European descent. The UK Biobank database also provided the GWAS data for physical activity. Primary analysis was performed using inverse variance weighting (IVW) to assess the causal relationship between sedentary behavior, physical activity, and the risk of psychiatric disorder (depression, schizophrenia and bipolar disorder). Sensitivity analysis was conducted using Cochran's Q test, the MR-Egger intercept test, the MR-pleiotropy RESidual sum and outlier test, leave-one-out analysis, and funnel plot analysis. RESULTS: According to the IVW analysis, there was a significant association between genetically predicted leisure television watching and an increased risk of depression (odds ratio [OR] = 1.027, 95% confidence interval [CI]: 1.001-1.053; P = 0.04). The IVW analysis also indicated that there was a decreased risk of depression associated with fraction accelerations of > 425 milligravities, as measured by accelerometers (OR = 0.951, 95%CI: 0.914-0.989; P = 0.013). The other MR methods obtained consistent but non-significant results in the same direction. However, there was no evidence of a causal association between genetic liability for moderate-to-vigorous physical activity, accelerometer-assessed physical activity, computer use, or driving and the risk of depression. Furthermore, IVW analysis has also found that driving has a slight effect in reducing the risk of schizophrenia (OR = 0.092, 95%CI: 0.010-0.827; P = 0.033), while leisure television viewing has a significant protective effect against the onset of bipolar disorder (OR = 0.719, 95%CI: 0.567-0.912; P = 0.006). CONCLUSION: The study provides compelling evidence of a link between depression, bipolar disorder, and excessive TV watching. Furthermore, it suggests that higher accelerometer-assessed fraction accelerations of > 425 milligravities can serve as a genetic protective factor against depression. To mitigate the risk of developing depression, it is advisable to reduce sedentary activities, particularly television watching, and prioritize engaging in vigorous physical exercise.

The expression of Runx2 in the pathogenesis of periodontitis.

OBJECTIVE: Runt-related transcription factor 2 (Runx2) plays an important role in bone metabolism; however, the relationship between Runx2 and periodontitis remains unclear. We investigated Runx2 expression in the gingiva of patients to explore its role in periodontitis. METHODS: Gingival samples of patients were collected, including healthy samples (control group) and periodontitis samples (P group). Periodontitis samples were divided into three groups based on the periodontitis stage. Samples with stage I and grade B periodontitis were in the P1 group, stage II and grade B in the P2 group, and stage III or IV and grade B in the P3 group. Immunohistochemistry and western blotting were performed to detect Runx2 levels. The probing (PD) and clinical attachment loss (CAL) were recorded. RESULTS: Runx2 expression levels in the P and P3 groups were higher than those in the control group. In addition, Runx2 expression was positively correlated with CAL and PD (r1 = 0.435, r2 = 0.396). CONCLUSION: The high expression level of Runx2 in the gingiva of patients with periodontitis may be correlated with the pathogenesis of periodontitis.

Predictors for Intravenous Immunoglobulin Resistance in Patients with Kawasaki Disease.

Background: Between 10 and 20% of Kawasaki disease (KD) patients are resistant to treatment with initial intravenous immunoglobulin (IVIG) and have a high risk of developing coronary artery lesions. Some studies have been conducted to identify predictive factors. However, the results are controversial. This study aims to identify the risk factors for IVIG-resistant KD patients in a Chinese population. Methods: We performed a retrospective analysis of medical records of consecutive KD patients from two medical centers in South China from January 2015 to December 2017. A total of 1281 KD patients were eligible for inclusion in this study and maintained follow-up for over 12 months. The KD patients were divided into two groups based on IVIG response. Clinical characteristics and laboratory variables were compared between the two groups. Multivariate logistic regression analysis was performed to identify the risk factors of IVIG resistance in KD patients. Results: Of the 1281 KD patients, 141 (11.0%) cases who were IVIG resistant to adjunctive therapies for primary treatment were classified as group 1. The remaining patients were in group 2 (n = 1140), classified as the control group. There was a significant difference in male to female ratio and the length of hospital stay between the two groups (P < 0.05). Group 1 had a higher white blood cell count (P=0.01) and C-reactive protein level (P < 0.01) before IVIG treatment than in group 2. Group 1 had a significantly higher white blood cell count and percentage of neutrophils after the IVIG infusion than in group 2 (P < 0.001). In addition, the mean values of C-reactive protein level and neutrophil percentage before and after treatment difference comparison were significantly different. Multivariate analysis showed that patients presenting with coronary artery lesions in the acute phase and a C-reactive protein level >100 mg/L at diagnosis were associated with IVIG resistance in KD. During the 12-month follow-up period, group 1 had an obviously higher incidence of coronary artery lesions than group 2, and the difference between the groups was statistically significant (P < 0.001). Conclusions: Patients presenting with coronary artery lesions in the acute phase and elevated C-reactive protein levels before IVIG treatment might be a useful and important value for predicting IVIG resistance in KD. Risk assessment based on coronary artery lesions and C-reactive protein levels prior to the treatment may improve the outcome of IVIG resistance.

Copper Oxide-Based Photocatalysts and Photocathodes: Fundamentals and Recent Advances.

This work aims at reviewing the most impactful results obtained on the development of Cu-based photocathodes. The need of a sustainable exploitation of renewable energy sources and the parallel request of reducing pollutant emissions in airborne streams and in waters call for new technologies based on the use of efficient, abundant, low-toxicity and low-cost materials. Photoelectrochemical devices that adopts abundant element-based photoelectrodes might respond to these requests being an enabling technology for the direct use of sunlight to the production of energy fuels form water electrolysis (H2) and CO2 reduction (to alcohols, light hydrocarbons), as well as for the degradation of pollutants. This review analyses the physical chemical properties of Cu2O (and CuO) and the possible strategies to tune them (doping, lattice strain). Combining Cu with other elements in multinary oxides or in composite photoelectrodes is also discussed in detail. Finally, a short overview on the possible applications of these materials is presented.

Expression and methylation of Dickkopf-1 in the pathogenesis and malignant transformation of oral submucous fibrosis.

BACKGROUND: Dickkopf-1 is an inhibitor of the Wnt/ß-catenin pathway, but the role of Dickkopf-1 in oral submucous fibrosis remains unclear. We evaluated the protein expression and gene methylation levels of dickkopf-1 to determine the mechanism underlying abnormal Wnt/ß-catenin pathway activation. METHODS: Healthy mucosa, oral submucous fibrosis, oral squamous cell carcinoma, and cancer-adjacent tissues were collected. The expression and promoter methylation levels of dickkopf-1 were analyzed. RESULTS: The expression levels of dickkopf-1 in oral submucous fibrosis and oral squamous cell carcinoma tissues were lower than those in healthy and cancer-adjacent tissues. The methylation levels of the dickkopf-1 gene in oral submucous fibrosis and oral squamous cell carcinoma tissues were higher than those in healthy and cancer-adjacent tissues. Dickkopf-1 expression was negatively correlated with dickkopf-1 gene methylation. CONCLUSIONS: High dickkopf-1 methylation levels in oral submucous fibrosis and oral squamous cell carcinoma tissues may decrease dickkopf-1 expression, which may induce an abnormal activation of the Wnt/ß-catenin pathway and oral submucous fibrosis pathogenesis.

Effects of tracking linkage self-management mode on the compliance of prenatal examinations and delivery modes in primiparas.

To explore the effects of tracking linkage self-management mode on the compliance of prenatal examinations and delivery modes in primiparas. A total of 270 primiparas undergoing prenatal examinations in Shijiazhuang Obstetrics and Gynecology Hospital were enrolled for prospective study between January 2021 and January 2022. They were divided into control group and observation group, 135 cases in each group. The control group was given routine management mode, while observation group was given tracking linkage self-management mode. All were intervened till discharge. The compliance (time and frequency of prenatal examinations), cognition of prenatal examinations, score of exercise of self-care agency scale, self-rating anxiety scale and self-rating depression scale, delivery modes and the occurrence of neonatal adverse outcomes were compared between the 2 groups. After intervention, total compliance rate of prenatal examinations in observation group was higher than that in control group (84.44% vs 72.59%) (P < .05). The scores of pregnancy care, genetic diseases counseling, prevention of birth defects and reasonable nutrition during pregnancy in observation group were higher than those in control group (P < .05), scores of health cognition, self-care skills, self-care responsibility and self-concept were higher than those in control group (P < .05), scores of self-rating anxiety scale and self-rating depression scale were lower than those in control group (P < .05), natural delivery rate was higher than that in control group (85.93% vs 74.81%) (P < .05), and incidence of neonatal adverse outcomes was lower than that in control group (0.74% vs 5.93%) (Fisher exact probability = 0.036). The application of tracking linkage self-management mode can significantly improve cognition to prenatal examinations, improve compliance of prenatal examinations and self-care ability, relieve anxiety and depression, increase natural delivery rate and reduce the incidence of neonatal adverse outcomes in primiparas.

Effect of Targeted Care plus Exercise Intervention on Blood Glucose Levels and Maternal and Newborn Outcomes in Patients with Gestational Diabetes Mellitus.

Objective: To evaluate the effect of targeted care plus exercise intervention on blood glucose levels and maternal and newborn outcomes in patients with gestational diabetes mellitus (GDM). Methods: A total of 96 patients with GDM admitted to our hospital between March 2018 and January 2020 were recruited and assigned to receive either routine nursing (routine group) or targeted care plus exercise intervention (study group) via random method, with 48 patients in each group. Outcome measures included blood glucose, immune function, maternal and newborn outcome, and nursing satisfaction. Results: The patients in the study group had significantly lower amniotic fluid index (AFI), weight at delivery, body mass index (BMI), and weight gain during pregnancy than patients in the routine group (P < 0.05). There was no statistically significant difference in blood glucose between the two groups of patients before the intervention (P > 0.05). Targeted care plus exercise intervention resulted in significantly lower levels of fasting blood glucose (FBG), 2 h postprandial blood glucose (2hPBG), and blood glucose before bed versus routine care (P < 0.05). The patients with targeted care plus exercise intervention had higher immunoglobulin G (IgG) and IgM levels; higher CD3+, CD4+, and CD8+ levels; and lower lgA levels versus those with routine care (P < 0.05). Targeted care plus exercise intervention was associated with a lower incidence of negative pregnancy outcomes and a higher satisfaction versus routine care (P < 0.05). Conclusion: Targeted treatment plus exercise intervention efficiently controls blood glucose levels in GDM patients, improves immunological function, lowers the risk of pregnancy problems, improves pregnancy outcomes, and promotes patient satisfaction, indicating a high potential for therapeutic development. Targeted treatment combined with exercise intervention is encouraged following effective pharmacological interventions to facilitate recovery.

Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature.

Case Presentation: A 3-year-and-6-month-old child was reported to have recurrent high fever with generalized lymph node enlargement and significant elevation of inflammatory markers such as C-reactive protein and procalcitonin in tests. Later, whole exome sequencing determined that the child's disease was haploinsufficiency of A20 (HA20). Results: After immunosuppressive therapy, the child's symptoms improved significantly, and the inflammatory markers dropped to the normal range. Conclusion: Because of the characteristics of HA20, this disease is often underdiagnosed and misdiagnosed in clinical practice. By reporting this case of HA20 in a child, we hope to increase the awareness of this disease in the clinic.

Stent implantation in severe aortic coarctation in a pediatric patient with Turner syndrome: Case report and literature review.

Background: Turner syndrome is a rare systemic disease and a significant proportion of these patients experience aortic coarctation. Selection of optimal therapy for aortic coarctation in patients with Turner syndrome is difficult due to the pathologic change of the systemic vessel. Case presentation: We report one successful case of covered stent implantation for the treatment of severe native coarctation of the aorta in a 15-year-old patient with Turner syndrome weighing 36 kg. A covered stent was implanted in this patient. After the stent implantation, the peak systolic pressure gradient immediately decreased from 48 mmHg to 14 mmHg. The aortic diameter at the coarctation site increased from 3 mm to 10 mm after stenting. A femoral arterial complication occurred in this case, and we stabilized the situation finally. Results: During a follow-up of 3 years, no restenosis of aortic coarctation was observed and the patient no longer experienced hypertension. The dissection of the right femoral artery remained stable. Conclusion: A covered stent implantation for severe aortic coarctation in patients with Turner syndrome could be safe and effective. However, caution should be taken when using the technique to prevent complications.

Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review.

Background: Pompe disease is usually considered in children with elevated creatine kinase (CK) levels and decreased acidic α-glucosidase (GAA) enzyme activity. However, there are exceptions, such as GAA pseudo deficiency alleles, which result in lower GAA enzyme activity but do not cause Pompe disease. Here, we report two cases presenting with high CK levels and low GAA activity who were ultimately diagnosed with Duchenne muscular dystrophy (DMD). Case Presentation: Case 1 patient was a 2-month-old boy who presented with an extremely high serum CK level (5,480∼11,880 U/L) and low GAA activity (2.72 nmol/1 h/mg). The whole-exome sequencing did not find the pathogenic GAA gene mutation, however, there was a DMD gene hemizygous variation (c. 7657C > T, p. Arg2553Ter) inherited from his mother, which was verified by the first-generation sequencing. Further genetic analysis of GAA identified two homozygous pseudo deficiency alleles (c.1726G > A, p. Gly576Ser and c.2065G > A, p. Glu689Lys), which were believed to induce the patient's low GAA activity. Therefore, the boy was diagnosed with DMD, although he had extremely low GAA activity. Case 2 patient was also a 2-month-old boy presenting with a significant increase in CK level (12,408∼24,828 U/L). His blood GAA activity (colorimetric method) was 9.02 nmol/1 h/mg. Similarly, his whole-exome sequencing did not find the pathogenic mutation of the GAA gene, but a DMD gene hemizygous variation (c.5571del, p. Lys1857AsnfsTer8), hence he was diagnosed with DMD as well. Regarding GAA activity, the case 2 patient was not as low as the case 1 patient, mainly because his two GAA pseudo deficiency alleles were heterozygous. Conclusion: Pompe disease is usually screened in infants with high CK levels. We should be aware that pseudo deficiency alleles can cause low GAA activities but not Pompe disease. Genetic tests would be helpful to distinguish cases with GAA pseudo deficiency alleles from patients with some muscular disorder diseases such as DMD.

Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism.

Human NESG1 (CCDC19) gene was originally isolated in our laboratory from human nasopharynx tissue. However, the biological and clinical significances of this gene remain largely unknown. In this report, two errors in the originally submitted sequence of human NESG1 gene were found, and the open reading frame sequence of NESG1 (Accession number: NM_012337.1) was revised and updated in the NCBI database (Accession number: NM_012337.2). The antibody raised against the revised sequence of NESG1 detected a single band of 66 kD in human nasopharynx tissues. NESG1 transcripts were specifically expressed in the nasopharynx epithelium. Expression of NESG1 transcripts and protein was downregulated or absent in nasopharyngeal carcinoma (NPC) tissues and cell lines in comparison to that in the normal nasopharynx tissues. The levels of NESG1 protein were significantly greater in the low-grade NPC tissues than that in the high-grade NPC tissues. Induced expression of NESG1 in otherwise NESG1-negative 5-8F cells not only significantly decreased cell proliferation, G1-S phase transition, but also markedly inhibited the ability of cell migration and invasion as well as in vivo tumorigenesis. Furthermore, NESG1 also significantly regulated the expression of cell cycle regulator CCNA1 and p21. Our findings first provided evidence that NESG1 may act as a tumor suppressor by inhibiting cell proliferation, invasion and migration of NPC cells.

Synthesis and characterization of Ni-doped anatase TiO2 loaded on magnetic activated carbon for rapidly removing triphenylmethane dyes.

In this work, we employed the in situ synthesis method to implant Fe3O4 into activated carbon (AC), in which the synthesis of the magnetic AC (MAC) was realized. Thence, Ni-doped anatase TiO2 (NATiO2) were anchored on different addition amount of MAC to synthesize the series of Ni-TiO2/MAC photocatalysts. The chemical compositions and physical properties of these nanocomposites were analyzed by various characterization technologies. The photocatalytic capabilities of as-produced materials were then investigated via adsorption and photodegradation of triphenylmethane dyes (TPMs) as crystal violet (CV), basic fuchsine (BF), and malachite green (MG) solution. The results revealed that the removal of Ni-TiO2/AC, Ni-TiO2/2MAC, Ni-TiO2/4MAC, and Ni-TiO2/8MAC on TPMs is a very fast process and the removal efficiency can almost reach to about 90% in 10 min, and the catalyst has good cycle stability and is easy to be reused. This work provides a novel, low-cost, and effective way to rationally design and synthesize TiO2-based photocatalysts for effective removal of TPMs.

A Retrospective Cohort Study of Intravenous Immunoglobulin Therapy in the Acute Phase of Kawasaki Disease: The Earlier, the Better?

BACKGROUND: Although intravenous immunoglobulin (IVIG) is expected to prevent coronary artery abnormalities of Kawasaki disease (KD) in the acute phase, the timing and effectiveness of IVIG remain to be determined. The association of timing of IVIG administration in KD patients with coronary artery abnormalities is evaluated in this cohort study. METHODS: We systematically studied KD patients from two participating institutions between 2015 and 2017. To reveal the effectiveness of IVIG treatment, these patients were classified into four groups regarding the time of IVIG treatment. Primary outcome was coronary artery abnormalities by echo at diagnosis and 12 months follow-up; secondary outcomes included inflammatory markers. RESULTS: A total of 1281 patients were included in this study. The best time of IVIG treatment cut-off values in 12 months follow-up for predicting coronary artery abnormalities was days 7.5 of illness onset. According to the best time of IVIG treatment cut-off values, all patients were classified into 4 groups. Group 1 was defined as earlier IVIG treatment administration on days ≤4 of the illness (n = 77). Group 2 was defined with days 5-7 (n = 817), group 3 with days 8-10 (n = 249), group 4 with days >10 (n = 138). A greater proportion of IVIG-resistant KD patients were group 4 than the other three groups, and there were significant differences (p < 0.05). The incidence of coronary artery lesions (CALs) and coronary artery aneurysms (CAAs) in group 3 and group 4 was higher than that in group 1 (p < 0.05) and group 2 (p < 0.05) during a 12-month follow-up. Additionally, the incidence of CALs in group 1 was higher than that in group 2 but without statistical significance (p > 0.05). The OR was significantly higher for those who started IVIG administration more than 7 days from the onset was positively associated with the occurrence of CALs (OR, 5.3; 95% CI, 2.0-13.9) and CAAs (OR, 13.5; 95% CI, 2.9-14.1) 12 months after initial onset. Multivariate regression revealed that the timing of IVIG treatment and IVIG-resistance was independent risk factors of CALs. CONCLUSIONS: IVIG treatment less than 7 days after illness onset are found to be sufficient for preventing developing coronary artery abnormalities in KD patients. Earlier IVIG treatment administration within 4 days may not increase the higher incidence of coronary artery abnormalities and IVIG resistance (Chinese Clinical Trial Registry:ChiCTR1800015800).

Case Report: Talaromyces marneffei Infection in a Chinese Child With a Complex Heterozygous CARD9 Mutation.

Talaromyces marneffei (TM) infection is rarely seen in clinical practice, and its pathogenesis may be related to deficiency in antifungal immune function. Human caspase recruitment domain-containing protein 9 (CARD9) is a key molecule in fungal immune surveillance. There have been no previous case reports of TM infection in individuals with CARD9 gene mutations. Herein, we report the case of a 7-month-old Chinese boy who was admitted to our hospital with recurring cough and fever with a papular rash. A blood culture produced TM growth, which was confirmed by metagenomic next-generation sequencing. One of the patient's sisters had died of TM septicaemia at 9 months of age. Whole exome sequencing revealed that the patient had a complex heterozygous CARD9 gene mutation with a c.1118G>C p.R373P variation in exon 8 and a c.610C>T p.R204C variation in exon 4. Based on the culture results, voriconazole antifungal therapy was administered. On the third day of antifungal administration, his temperature dropped to within normal range, the rash gradually subsided, and the enlargement of his lymph nodes, liver, and spleen improved. Two months after discharge, he returned to the hospital for a follow-up examination. His general condition was good, and no specific abnormalities were detected. Oral voriconazole treatment was continued. Unexplained TM infection in HIV-negative individuals warrants investigation for immune deficiencies.

Sitosterolemia With Atherosclerosis in a Child: A Case Report.

Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively. When pediatric patients are diagnosed with sitosterolemia, vascular, and cardiac studies are important to evaluate for the presence of atherosclerosis. Few cases of severe atherosclerotic heart disease in children with sitosterolemia have been reported, making this case worthy of presentation. Case Presentation: Here, we report a case of sitosterolemia in an 8-year-old child. The patient presented with severe hypercholesterolemia and xanthoma. He was diagnosed two and a half years prior with familial hypercholesterolemia because his father had elevated cholesterol levels. After conventional treatment, the patient was dissatisfied with lipid level control and visited our hospital for further management. Genetic tests of the patient and parents found mutations in intron 7 (NM 022436.2, c.904+1G>A) and intron 9 (NM 022436.2, C. 1324+1de1G) of ABCG5. The 7 intron mutation was from his mother, and the 9 intron mutation was from his father. The patient was diagnosed with sitosterolemia. Results: The child was treated with ezetimibe, a low plant sterol diet, and clopidogrel anticoagulant therapy. After 3 months of treatment, the blood lipid level was significantly lower. Conclusion: Genetic testing should be completed as soon as possible to avoid misdiagnosis in children with abnormally elevated hypercholesterolemia who have a family history of elevated cholesterol. In addition, clinicians should rule out great arterial lesions and be vigilant in evaluating patients for systemic arterial disease and atherosclerosis.

Over-expression of eukaryotic translation initiation factor 4 gamma 1 correlates with tumor progression and poor prognosis in nasopharyngeal carcinoma.

BACKGROUND: The aim of the present study was to analyze the expression of eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) in nasopharyngeal carcinoma (NPC) and its correlation with clinicopathologic features, including patients' survival time. METHODS: Using real-time PCR, we detected the expression of EIF4G1 in normal nasopharyngeal tissues, immortalized nasopharyngeal epithelial cell lines NP69, NPC tissues and cell lines. EIF4G1 protein expression in NPC tissues was examined using immunohistochemistry. Survival analysis was performed using Kaplan-Meier method. The effect of EIF4G1 on cell invasion and tumorigenesis were investigated. RESULTS: The expression levels of EIF4G1 mRNA were significantly greater in NPC tissues and cell lines than those in the normal nasopharyngeal tissues and NP69 cells (P < 0.001). Immunohistochemical analysis revealed that the expression of EIF4G1 protein was higher in NPC tissues than that in the nasopharyngeal tissues (P < 0.001). In addition, the levels of EIF4G1 protein in tumors were positively correlated with tumor T classification (P = 0.039), lymph node involvement (N classification, P = 0.008), and the clinical stages (P = 0.003) of NPC patients. Patients with higher EIF4G1 expression had shorter overall survival time (P = 0.019). Multivariate analysis showed that EIF4G1 expression was an independent prognostic indicator for the overall survival of NPC patients. Using shRNA to knock down the expression of EIF4G1 not only markedly inhibited cell cycle progression, proliferation, migration, invasion, and colony formation, but also dramatically suppressed in vivo xenograft tumor growth. CONCLUSION: Our data suggest that EIF4G1 can serve as a biomarker for the prognosis of NPC patients.

Massive Hydrothorax and Ascites as the Primary Manifestation of Infection With Clostridium difficile: A Case Report and Literature Review.

Introduction: Clostridium difficile infection (cdi) often occurs with long-term and irregular use of antibiotics. Patients with tumors receiving both antibiotics and chemotherapy are at a high risk of cdi. The symptoms of cdi vary but can include diarrhea, hypovolemia, electrolyte imbalance, hypoproteinemia, toxic megacolon, gastrointestinal tract perforation, disseminated intravascular coagulation, sepsis, and other lethal complications. Here, we report a rare clinical manifestation associated with cdi in a child with lymphoma presenting with massive hydrothorax and ascites. Case Presentation: A 6-year-old girl who was on chemotherapy for lymphoma presented with fever and was treated with intravenous broad-spectrum antibiotics 3 days before admission to our hospital. On the day before admission, she developed abdominal distension and diarrhea. After admission, broad-spectrum antibiotic therapy was initiated, and her hydrothorax and ascites were drained. An initial extensive microbiological evaluation revealed no pathogens, and laboratory tests and imaging studies of the pleural and peritoneal effusions revealed no evidence of cancer. The initial culture results for C. difficile were negative. The patient was diagnosed with CDI only after a positive test result for C. difficile toxin B gene and a repeated stool culture test revealed CDI. Intravenous antibiotics were suspended and replaced with oral vancomycin and Saccharomyces boulardii, which resulted in successful treatment and a good post-discharge outcome. Conclusions: Massive hydrothorax and ascites are rare manifestations associated with CDI. CDI can occur in individuals with risk factors such as those undergoing broad-spectrum antibiotic therapy.

Surfactants-assisted preparation of BiVO4 with novel morphologies via microwave method and CdS decoration for enhanced photocatalytic properties.

The development of a highly efficient and rapid method for the accurate preparation of photocatalysts with novel morphologies is a hot research topic. The different morphologies of BiVO4 was prepared using surfactants-assisted microwave method, and demonstrated irregular (no surfactant), octahedral (sodium dodecyl benzene sulfonate), olive-like (polyvinylpyrrolidone) and hollow structures (ethylenediaminetetraacetic acid), respectively. The BiVO4-CdS were synthesized using the chemical-bath-deposition method with different morphologies of BiVO4 as the substrates. The hollow structure of BiVO4 displayed the highest photocatalytic performance. Moreover, the photodegradation rates of the hollow structure BiVO4-CdS on tetracycline hydrochloride and ciprofloxacin were about 1.8 and 1.5 times higher than the corresponding BiVO4, indicating that the Z-scheme heterojunction can improve the photogenerated electron pairs separation efficiency. Furthermore, the regulation mechanism of morphology and energy-band position, as produced using the surfactants, has also been thoroughly investigated in this work, which provides a novel insight into the efficient and rapid preparation of photocatalysts with special morphology and high performance.