9 research outputs found

    Supplementary Material for: Blood eosinophil count and its determinants in a Chinese population-based cohort

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    Introduction: Blood eosinophil count has been shown markedly variable across different populations. However, its distribution in Chinese general population remains unclear. We aimed to investigate blood eosinophil count and its determinants in a Chinese general population. Methods: In this population-based study, general citizens of Sichuan province in China were extracted from the China Pulmonary Health study. Data on demographics, personal and family history, living condition, lifestyle, spirometry and complete blood count test were obtained and analyzed. A stepwise multivariate binary logistic regression analysis was performed to identify determinants of high blood eosinophils (>75th percentile). Results: A total of 3310 participants were included, with a mean age (SD) of 47.0 (15.6) years. In total population, the median blood eosinophil count was 110.0 (IQR 67.2-192.9) cells/μL, lower than that in smokers (133.4 cells/μL, IQR 79.3-228.4) and patients with asthma (140.7 cells/μL, IQR 79.6-218.2) or post-bronchodilator airflow limitation (141.5 cells/μL, IQR 82.6-230.1), with a right-skewed distribution. Multivariate analyses revealed that oldness (aged ≥60 years) (OR 1.66, 95% CI 1.11-2.48), smoking ≥ 20 pack-years (OR 1.90, 95% CI 1.20-3.00), raising dog/cat (OR 1.72, 95% CI 1.17-2.52) and occupational exposure to dust, allergen and harmful gas (OR 1.58, 95% CI 1.15-2.15) were significantly associated with high blood eosinophils. Conclusion: This study identifies a median blood eosinophil count of 110.0 cells/μL and determinants of high blood eosinophils in a Chinese general population, including oldness (aged ≥60 years), smoking ≥ 20 pack-years, raising dog/cat and occupational exposure to dust, allergen and harmful gas

    Supplementary Material for: Prolonged Button Battery Exposure Leading to Severe Ocular Injury Without Heavy Metal Poisoning

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    Introduction Prolonged exposure to a complete button battery can cause severe tissue necrosis in the eye and permanent impairment of visual function. The main mechanism of injury is the current generated by the hydrolysis of tissue fluid at the negative electrode and the production of hydroxide ions. Case Presentation A 3-year-old girl,went to the local hospital because of swelling and pain in her right eye of 12 hours’ duration. The local doctor performed an orbital CT(Computer Tomography)scan and found a foreign body between the right eyelid and the eyeball. The foreign body was removed immediately under general anesthesia. And it was found that the foreign body was a button battery, but it prolonged 39 hours from the onset of the child’s symptoms. The child underwent a second operation in our hospital and receiving amniotic membrane transplantation combined with conjunctival flap coverage. Topical corticosteroid and antibiotic eye ointment was continue for 3 months after surgery. Local Pigmentation was seen, no symblepharon, but the cornea was still opaque and the visual acuity was only FC(Finger Count). In this particular case, heavy metal testing conducted on the child's blood fortunately revealed that the levels were within the normal range. Conclusion Early detection and urgent removal of button battery is crucial in order to minimise exposure time. We should also be concerned about heavy metals in the blood.Children should be kept away from button batteries as much as possible to avoid such injury

    Supplementary Material for: Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

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    <p>Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.</p

    Supplementary Material for: Identifying genetic factors of polycystic ovary syndrome in women with epilepsy: a whole-genome sequencing study

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    Introduction: Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods: WWE registered at West China Hospital between January 2021 and October 2021 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded and blood samples were collected for hormones, glucose metabolism testing and whole-genome sequencing. Results: After sample sequencing, quality control and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS ‘burden score’ of each individual were calculated to count the deleterious variants. A total of 95 WWE was included in this study and 19 patients were diagnosed with PCOS. WWE with PCOS showed a significantly different hormone profiles and a tendency of impaired glucose metabolism. The mostly associated genes were ZFYVE28, COL19A1, SIK3, ANKK1, PPIG, and REPIN1. The top 3 canonical pathways are adipogenesis pathway, Epoxysqualene Biosynthesis Signaling, and Glutamate Degradation Signaling. The most significant common variant was rs11914038 located in gene CELSR1 and rs651748 located in gene ZBTB16. In HGC prioritizations, ITGA9, PNPLA2, and DAB2 are the top 3 genes having the shortest distance to known PCOS genes. Conclusion: Genetic factors involved in the abnormal regulation of glucose and insulin metabolism are likely to be associated with the comorbidity of PCOS in WWE. Interventions targeting these processes should be given more priority in clinical practice

    Erratum: Endoplasmic Reticulum Stress Predicts Clinical Response to Cyclosporine Treatment in Primary Membranous Nephropathy

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    <b><i>Background:</i></b> Little is known about the endoplasmic reticulum stress (ERS) marker glucose regulated protein 78 (GRP78) and calcineurin in the kidney in primary membranous nephropathy (PMN) and if they could predict post-cyclosporine treatment outcome. <b><i>Methods:</i></b> This is a retrospective study using a dataset of biopsy-confirmed PMN from Peking Union Medical College Hospital from 1996 to 2014. Seventy-six adult patients treated with cyclosporine as primary immunosuppression for at least 6 months were studied. Immunohistochemistry was used to detect GRP78 and calcineurin in the kidney. Serum calcineurin was assayed by ELISA. Patients were grouped into no-remission (NR, n = 17), partial remission (PR, n = 39), or complete remission (CR, n = 20) at the end of 6 months of treatment. <b><i>Results:</i></b> There was no difference of initial dose of cyclosporine among NR, PR, and CR groups. Kidney calcineurin expression in PMN was significantly increased compared to that in controls (p < 0.0083). The glomerular GRP78 in NR PMN was higher than that in control, CR and PR patients (p < 0.0083). Kidney calcineurin expression and GRP78 expression was positively correlated. However, there were no differences in either serum calcineurin levels or kidney calcineurin expressions among NR, PR or CR groups. There was a negative correlation between serum calcineurin activity and whole kidney calcineurin expression (p = 0.034) or glomerular calcineurin expression (p = 0.007). Neither kidney calcineurin nor GRP78 expression was correlated with proteinuria. <b><i>Conclusions:</i></b> ERS marker GRP78 in the glomeruli but not serum or kidney calcineurin expression could be a useful marker in PMN to negatively predict the response to cyclosporine treatment at the sixth month
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