ABSTRACT
Acute lung injury (ALI) or acute respiratory distress syndrome (ARDS) is a critical respiratory syndrome with limited effective interventions. Lung macrophages play a critical role in the pathogenesis of abnormal inflammatory response in the syndrome. Recently, impaired fatty acid oxidation (FAO), one of the key lipid metabolic signalings, was found to participate in the onset and development of various lung diseases, including ALI/ARDS. Lipid/fatty acid contents within mouse lungs were quantified using the Oil Red O staining. The protective effect of FAO activator L-carnitine (Lca, 50, 500, or 5 mg/mL) was evaluated by cell counting kit 8 (CCK-8) assay, real-time quantitative PCR (qPCR), ELISA, immunoblotting, fluorescence imaging, and fluorescence plate reader detection in lipopolysaccharide (LPS) (100 ng/mL)-stimulated THP-1-derived macrophages. The in vivo efficacy of Lca (300 mg/kg) was determined in a 10 mg/kg LPS-induced ALI mouse model. We found for the first time that lipid accumulation in pulmonary macrophages was significantly increased in a classical ALI murine model, which indicated disrupted FAO induced by LPS. Lca showed potent anti-inflammatory and antioxidative effects on THP-1 derived macrophages upon LPS stimulation. Mechanistically, Lca was able to maintain FAO, mitochondrial activity, and ameliorate mitochondrial dynamics. In the LPS-induced ALI mouse model, we further discovered that Lca inhibited neutrophilic inflammation and decreased diffuse damage, which might be due to the preservation of mitochondrial homeostasis. These results broadened our understanding of ALI/ARDS pathogenesis and provided a promising drug candidate for this syndrome.
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Objective@#To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.@*Methods @# A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed.@*Results @#Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect.@*Conclusion@# Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.
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Objective@#To discuss the correlation between growth status and eating behaviors in children with attention deficit and hyperactivity disorder (ADHD), providing reference data for management and dietary behavior guidance among ADHD children.@*Methods@#A total of 703 children aged 4-13 years old were collected from the ADHD patients from Children s Health Department of Children s Hospital of Nanjing Medical University from June to September, 2019. The demographic characteristics and information regarding children’s eating behaviors were collected by self-designed questionnaire and Chinese version of the parent-completed Children’s Eating Behavior Questionnaire(CEBQ). The correlation physical growth with dietary behaviors among the ADHD children were analyzed.@*Results@#Food avoidant behaviors, including satiety responsiveness, slowness in eating and emotional undereating in ADHD children with thinness scored significantly higher than that of children with short stature, overweight and obesity(F=17.57, 29.32, 4.07, P<0.01), while food approach behaviors, including food responsiveness, enjoyment of food, desire to drink and emotional overeating scored higher in obese children, compared to other three groups(F=24.54, 47.44, 2.96,5.85, P<0.05). Multiple linear regression analysis showed that, after adjusting for the confounders, satiety responsiveness, slowness in eating were still negatively associated with BMI-Z score of the ADHD children(B=-0.05, -0.07, P<0.01). Food responsiveness, enjoyment of food and emotional overeating had a positive association with the BMI-Z score(B=0.04, 0.09, 0.05, P<0.05).@*Conclusion@#Emotional eating and high food responsiveness in ADHD children are associated with the overweight and obesity, while long eating time and high satiety responsiveness is associated with underweight among ADHD children. For clinical doctors and parents, problematic eating behaviors among ADHD children should be concerned regarding its negative effects on growth and development, besides core symptoms of ADHD.
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Diagnosis and treatment of velocardiofacial syndrome (VCFS) with variable genotypes and phenotypes are considered to be very complicated. Establishing an exact correlation between the phenotypes and genotypes of VCFS is still a challenging. In this paper, 88 Chinese VCFS patients were divided into five groups based on palatal anomalies and one or two of other four common phenotypes, and copy number variations (CNVs) were detected using multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) and quantitative polymerase chain reaction. The findings showed that palatal anomalies and characteristic malformation of face were important indicators for 22q11.2 microdeletion, and there was difference inthe phenotypic spectrum between the duplication and deletion of 22q11.2. MLPA was a highly cost-effective, sensitive and preferred method for patients with 22q11.2 deletion or duplication. Our results also firstly reported that all three patients who simultaneously exhibited palatal anomalies and cognitive disorder, without other phenotypes, have Top3b duplication, which strongly suggested thatTop3b may be a pathogenic gene for these patients. Further, the findings showed that patients with palatal anomalies and congenital heart disease or immune deficiency, with or without other uncommon phenotypes, exhibited heterogeneity in CNVs, including 4q34.1-qter, 6q25.3, 4q23, Xp11.4, 13q21.1, 17q23.2, 7p21.3, 2p11.2, 11q24.3 and 16q23.3, and some possible pathogenic genes, including BCOR, PRR20A, TBX2, SMYD1, KLKB1 and TULP4 have been suggested. For these patients, aCGH, whole genomic sequencing,combined with references and phenomics database to find pathogenic gene,may be choices of priority. Taking these findings together, we offered an alternative method for diagnosis of Chinese VCFS patients based on this phenotypic strategy.
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Objective@#To understand prevention and control of infectious disease among primary schools in Xi’an. @*Methods@#A total of 93 primary schools were selected through multi-stage stratified sampling method from 14 counties in Xi’an, then these schools are surveyed to meaure the classroom ventilation.@*Results@#About 28.0% (26/93) of these schools met the national standard for health staffs, with 7.4%(4/54) in urban primary schools and 56.4% in rural primary schools (22/39), the difference between urban and rural areas is statistically significant(P<0.01). Urban primary schools were better than rural primary schools in morning inspection, registration and tracking for illness, verification of vaccination certificates, surveillance and reporting of epidemic outbreaks, verification of school recovery(P<0.05). The average per capita area among the 92 primary schools was (1.22±0.34) m2, with (1.08±0.26) m2 in urban primary schools and (1.42±0.33) m2 in rural primary schools, the difference between urban and rural areas was statistically significant (P<0.01). The average per capita ventilation area of 92 primary schools was (0.15±0.07) m2 with (0.13±0.04) m2 in urban primary schools and (0.19±0.08) m2 in rural primary schools, the difference between urban and rural areas was statistically significant (P<0.01).@*Conclusion@#School-based infectious diseases prevention and control needs to be improved in Xi’an, especially in health personnel. Urban schools appear superior in the prevention and control of infectious diseases and sanitary conditions, while rural schools appear superior in student density and classroom ventilation.