Objectives To investigate the relationship between self-reported occupational noise exposure and levels of plasma inflammatory cytokines in asthmatic patients. Methods A total of 910 adult asthmatic patients were selected as the study subjects, and their occupational noise exposure history and other related information were collected. The peripheral blood samples were collected from the patients, and the expression levels of plasma soluble CD14 (sCD14), complement factor D (CFD), Eotaxin-11 (CCL11), and IL-9 were determined. The relationship between self-reported occupational noise exposure and the expression levels of the four inflammatory cytokines in patients’ plasma were analyzed using multiple linear regression models. The interactions between confounding factors and self-reported occupational noise exposure were further analyzed by interaction analysis. Results The plasma CCL11, sCD14 and CFD expressions in asthmatic patients with self-reported occupational noise exposure were significantly higher than those in patients without the exposure (P<0.05). After adjusting for confounding factors, compared with patients reporting no occupational noise exposure, the plasma CFD expression was increased by 0.17 (95% CI: 0.02, 0.31) natural logarithm units in patients with self-reported occupational noise exposure. During remission, the levels of plasma CCL11 and sCD14 in asthmatic patients with self-reported occupational noise exposure were increased by 0.27 (95% CI: 0.05, 0.49) and 0.22 (95% CI: 0.02, 0.41) natural logarithm units, respectively, when compared with patients without the exposure. Interaction analysis showed that self-reported occupational noise exposure had significant multiplicative interaction with smoking or pet ownership on plasma CCL11 or CFD expressions in asthmatic patients (all P<0.05). Conclusion Self-reported occupational noise exposure is significantly associated with increased expression levels of plasma CFD, CCL11, and sCD14 in adult asthmatic patients.

Objective:To explore the clinical characteristics of interleukin-6 (IL-6) and interleukin-8 (IL-8) in cerebrospinal fluid (CSF) of children with bacterial meningitis (BM) and provide reference for clinical diagnosis and treatment of BM.Methods:The clinical data of BM children hospitalized in Women and Children′s Medical Center Affiliated to Guangzhou Medical University from December 2019 to March 2022 were collected and retrospectively analyzed in this case series study.Cytokines in CSF of these children were detected at least twice during the treatment. t test, Mann-Whitney test or analysis of variance were carried out for statistical analysis. Results:There were 40 patients included in this study.The age of onset was 2(1, 8) months, ranging from 2 days to 8 years, and the length of time from onset to hospitalization was (15±17) days, ranging from 1 day to 69 days.The main symptoms at the onset were fever (40 cases, 100%), poor mental state (16 cases, 35.0%), convulsion (9 cases, 22.5%), and vomiting (9 cases, 22.5%).According to pathogens, the patients were divided into the Streptococcus agalactia group (GBS group, 9 cases), Streptococcus pneumoniae group (SP group, 9 cases), other bacteria group (9 cases), and unknown bacteria group (13 cases).The levels of cytokines in the CSF of BM children were increased, along with significantly elevated levels of IL-6 and IL-8 within 1 st week of BM, followed by the peak at 2 nd-3 rd weeks, and then levels of IL-6 and IL-8 presented an overall decreasing trend with the progression of BM.The level of IL-6 in CSF of 10 cases significantly decreased in the 4 th week of BM [within 2 weeks: 773.5(164.1, 1 781.2) ng/L vs. 4 th week: 10.8(2.2, 21.1) ng/L, P=0.005].Such statistical differences didn′t occur to the level of IL-8 [within 2 weeks 182.9(33.6, 657.7) ng/L vs. 4 th week: 92.9(22.6, 226.6) ng/L, P=0.303].After effective antibiotic therapy, 6 patients had elevated white blood cell count in CSF during the 4 th-20 th weeks, with or without repeating intermittent fever.Among them, 4 cases of GBS and 1 case of SP were negative for pathogens in CSF during the retest after treatment, and the levels of IL-6 and IL-8 [(149.1-4 218.6) ng/L and (124.2-1 890.3) ng/L, respectively] in CSF were elevated.Low-dose glucocorticoid was administered for anti-inflammatory treatment, with additional gamma globulin for 1 case and Ibuprofen instead for 1 case.Subsequently, the fever completely subsided.The white blood cell count in CSF decreased significantly ( P=0.024). Conclusions:The levels of IL-6 and IL-8 in CSF increase significantly in the acute phase of BM and generally decrease with the progression of BM.If they are still significantly elevated in the later course of BM, it should be noted that an intracranial hyperinflammatory response may occur, especially when the pathogenic bacteria are GBS or SP.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

OBJECTIVE: To explore the genetic basis for a child with optic atrophy and global developmental delay. METHODS: A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4). CONCLUSION The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
Female ; Humans ; Infant ; Computational Biology ; COUP Transcription Factor I/genetics* ; Genetic Testing ; Genomics ; Genotype ; Optic Atrophy/genetics*

Nonalcoholic fatty liver disease (NAFLD) is one of the common causes for chronic liver diseases, which progress gradually from nonalcoholic type simple fatty liver disease to hepatitis, cirrhosis and even liver failure and hepatocellular carcinoma. Sarcopenia is a progressive disease characterized by reduced skeletal muscle mass and function in association to metabolic dysfunctions. Recent studies have shown that the occurrence and development of NAFLD and sarcopenia are related, and there is a common base for the pathogenesis between the two, which may promote each other for mutual risk factors. This article reviews the current research progress of this field in order to clinically further understand the pathogenesis and intrinsic links between the two to look for appropriate interventions.

Objective: To investigate the clinical characteristics, treatment and prognosis of relapsed demyeli-nating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China. Methods: Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children′s Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively. Results: Ten children were included with the age of (6.4±3.6) years old, and male to female ratio was 4∶6.(1)Clinical phenotype: all children had 24 episodes during follow-up, with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes, ADEM (9/14 times) was the most common, followed by optic neuritis(ON)(3/14 times)and brainstem encephalitis (2/14 times). By the final follow-up, the final diagnosis was multiphasic disseminated encephalomyelitis(MDEM)(6/10 cases), NMOSD(3/10 cases), ADEM-ON(1/10 case), respectively.(2)Laboratory examination: all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1∶640)(6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group(1∶320)(4 cases). (3)Imaging changes: 25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage, MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis: intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases), mycophenolate mofetil (4/10 cases), IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD, 3 cases of MDEM and 1 case of ADEM-ON, including motor dysfunction, learning disability and inattention, symptomatic epilepsy and visual impairment. Conclusions ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients, residual neurological sequelae were related to the type of repeated demyelination.

Objective: To explore the impact of knocking out wildtype p53 phosphatase 1 gene on heart function with the changes of cardiac tissue mRNA and protein expressions in experimental mice. Methods: Our research included in 2 groups: Wildtype (WT) mice group and Wip1 knockout (Wip1-KO) mice group. n=10 in each group. The heart function, ratio of heart weight to body weight (HW/BW) were examined and compared between 2 groups; cardiac tissue morphology was observed by HE staining; mRNA expressions of ANP, BNP, MCP-1 andα-SMA were determined by RT-PCR and protein expressions of Bcl-2, Bax and c-caspase3 were measured by Western blot analysis. Results: Compared with WT mice group, Wip1-KO mice group showed decreased Wip1 mRNA expression,P<0.05, decreased LVEF, LV fraction shortening and increased left ventricular end systolic diameter (LVESD), allP<0.05; Wip1-KO mice group had reduced BW and elevated ratio of HW/BW, bothP<0.05 even the heart weight was similar between 2 groups. There was no difference in cardiac tissue morphology between 2 groups; mRNA expressions of ANP, BNP, MCP-1 and α-SMA were similar between 2 groups,P>0.05; apoptosis related protein expressions of Bax/Bcl-2 and c-caspase3 were similar between 2 groups,P>0.05. Conclusion: Wip1 gene knockout may impair the heart function in experimental mice, while the relevant mechanism should be further investigated.

Objective: To explore the changes of peripheral leukocyte’s telomere length (LTL) in patients of premature coronary artery disease (PCAD) with inlfuencing factors. Methods: Our research was conducted in 2 sets of groups, by coronary artery condition: PCAD group,n=128 including 88 patients with ACS, 40 with SCAD and Non-CAD group,n=128 subjects; by age status: the age≤30 years, 31-40 years, 41-50 years, 51-60 years had 2, 14, 65, 47 patients in each group respectively. Peripheral LTL was detected by lfuorescent quantitative analysis, the relationship between LTL and PCAD with inlfuencing factors were studied by Spearman correlation analysis. Results: In PCAD group, compared with SCAD patients, ACS patients had more male gender, higher Gensini score, lower T/S ratio and shorter LTL, allP<0.05. Compared with Non-CAD group, PCAD group had decreased T/S ratio (0.88 ± 0.86) vs (1.10 ± 0.57),P<0.05. T/S ratio was negatively related to age in both PCAD group (r=-0.275,P=0.002) and Non-CAD group (r=-0.316,P=0.000). Spearman correlation study presented that in PCAD group, LTL was negatively related to hyperlipidemia (r=-0.415,P=0.049) and diabetes (r=-0.472,P=0.036); multi linear regression analysis indicated that in PCAD group, LTL was negatively related to age (B=-0.023,P=0.038) and in Non-CAD group, LTL was negatively related to age (B=-0.027,P=0.000), smoking (B=-0.278,P=0.012), HDL-C (B=-0.297,P=0.046). Conclusion: PCAD had more male ACS patients with shorter LTL and severer coronary lesions; LTL was negatively related to hyperlipidemia and diabetes, age was an important inlfuencing factor for LTL shortening.

Objective To explore the effect of tert?butylhydroquinone(tBHQ)on ultraviolet B(UVB)?induced oxidative damages in human im?mortalized keratinocytes(HaCaT),and discuss its mechanism. Methods The cultured HaCaT cells were randomly divided into 4 groups:control group(G1),ultraviolet irradiation group(G2),25μmol/L tBHQ pretreatment before ultraviolet irradiation group(G3),and 50μmol/L tBHQ pre?treatment before ultraviolet irradiation group(G4). The content of reactive oxygen species was detected by DCFH?DA method,and the cell prolifera?tion was evaluated by MTT. Western blot was used to measure the protein expression of nuclear factor E2?related factor 2(Nrf2)in both nuclear fac?tions and whole?cell of HaCaT. The mRNA expressions of CAT and SRX were determined by real?time RT?PCR. Results The content of reactive oxygen species in HaCaT cells was increased,and the cell proliferation rate was decreased significantly after ultraviolet irradiation. The pretreatment of 25 and 50μmol/L tBHQ can inhibit the UVB?induced oxidative damage in a dose?dependent manner in HaCaT cells. Compared with G2 group, tBHQ pretreatment could dose?dependently increase the level of Nrf2 protein in nuclear factions and whole?cell of HaCaT,and also the mRNA ex?pressions of CAT and SRX. Conclusion UVB irradiation can induce oxidative stress damages of HaCaT cells. tBHQ may inhibit the UVB?induced oxidative damages through enhancing Nrf2 expressions and nuclear translocation,then activating the transcription of the downstream antioxidant en?zymes CAT and SRX.

Objective: To investigate the relationship between plasma level of asymmetric dimethylarginine (ADMA) and coronary artery ectasia in relevant patients. Methods: A total of 72 patients received coronary angiography (CAG) in our hospital were studied and the patients were divided into 3 groups: Coronary ectasia group, Coronary stenosis group and Normal coronary group.n=24 in each group. Plasma levels of ADMA, symmetric dimethylarginine (SDMA) and L-arginine (Arg) were measured by HPLC-MS/MS methods. The relationship between ADMA and CAD was examined by Logistic regression analysis. Results: Plasma level of ADMA in Coronary ectasia group (0.437 ± 0.098) μmol/L and Coronary stenosis group (0.456 ± 0.088) μmol/L were higher than that in Normal coronary group (0.381 ± 0.057) μmol/L,P<0.05. The ratio of Arg/ADMA in Coronary ectasia group (208.54 ± 61.52) and Coronary stenosis group (220.00 ± 104.82) were lower than that in Normal coronary group (254.26 ± 76.22),P<0.05. Logistic regression analysis presented that with adjusted age, gender, smoking, family history of CAD and LDL-C level, and plasma ADMA was still related with CAD (Partial regression coefifcient 9.469, P=0.011). Conclusion: Plasma levels of ADMA were higher in patients with coronary artery ectasia/stenosis than those with normal coronary artery; while ADMA levels were similar between the patients with coronary ectasia and stenosis. Plasma ADMA level was the independent risk factor of CAD.