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1.
Seizure ; 116: 65-73, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37394306

ABSTRACT

PURPOSE: The SCAF4 gene encodes serine/arginine-related carboxyl-terminal domain-associated factor 4, which is highly expressed in the brain and potentially affects neurodevelopment. However, the functional significance of SCAF4 variants in human diseases remains unknown. METHODS: Trio-based whole-exome sequencing was performed in three individuals with focal epilepsy. Bioinformatics tools were used to assess the pathogenicity of SCAF4 variants. Knockout scaf4a/b zebrafish were created using CRISPR-Cas9 used to validate the phenotype. RESULTS: SCAF4 variants were identified in three individuals from three unrelated families with focal epilepsy. All patients had focal seizures and focal discharges on EEG recordings, with intellectual disability or motor retardation, skeletal abnormalities, and one had cryptorchidism. However, no recurrence was observed after short-term ASMs treatment. The identified SCAF4 variants included two nonsense variants and one compound heterozygous variant, consisting of a missense and an in-frame variant. A low frequency of SCAF4 variants was observed in gnomAD in this study. Computational modelling has suggested that missense variants lead to functional impairments. In zebrafish, abnormal epileptiform signals, skeletal development, and neurodevelopment have been found in scaf4a/b knockout compared to wild-type zebrafish. CONCLUSION: These results indicate that SCAF4 is associated with focal epilepsy accompanied by multisystem disorders. Otherwise, the management of patients with SCAF4 variants requires more attention to multisystem involvement.


Subject(s)
Epilepsies, Partial , Intellectual Disability , Male , Animals , Humans , Zebrafish , Epilepsies, Partial/complications , Epilepsies, Partial/genetics , Seizures/complications , Brain , Intellectual Disability/genetics , Serine-Arginine Splicing Factors/genetics
3.
Int J Ophthalmol ; 16(10): 1601-1607, 2023.
Article in English | MEDLINE | ID: mdl-37854370

ABSTRACT

AIM: To access the agreement of intraocular pressure (IOP) values obtained from biomechanically corrected tonometer [Corvis ST (CST)], non-contact tonometer (NCT), and Goldmann applanation tonometer (GAT) in children with NCT measured-IOP (NCT-IOP) values of 22 mm Hg or more, and related factors. METHODS: A total of 51 eyes with NCT-IOP≥22 mm Hg in children aged 7 to 14y were examined and IOP was measured by CST, NCT, and GAT. Based on GAT measured IOP (GAT-IOP), ocular hypertension (OHT) group (≥22 mm Hg, 24 eyes) and the non-OHT group (<22 mm Hg, 27 eyes) were defined. We compared the agreement of the three measurements, i.e., CST measured IOP (CST-IOP), GAT-IOP, and NCT-IOP, and further analyzed the correlation between the differences in tonometry readings, central corneal thickness (CCT), axial length (AL), optic disc rim volume, and age. RESULTS: Compared with the OHT group, thicker CCT, larger rim volume, and higher differences between NCT-IOP and GAT-IOP, were found in the non-OHT group. The differences between CST-IOP and GAT-IOP were lower than the differences between NCT-IOP and GAT-IOP in both groups. The mean differences in CST-IOP and GAT-IOP were 1.26 mm Hg (95% limit of agreement ranged from 0.1 to 2.41 mm Hg, OHT group) and 1.20 mm Hg (95% limit of agreement ranged from -0.5 to 3.00 mm Hg, non-OHT group), and the mean differences in NCT and GAT were 3.90 mm Hg (95% limit of agreement ranged from -0.19 to 9.70 mm Hg, OHT group) and 6.00 mm Hg (95% limit of agreement ranged from 1.50 to 10.50 mm Hg, non-OHT group). The differences between CST-IOP and GAT-IOP were not related to CCT, age, and AL in both groups; while the differences between NCT-IOP and GAT-IOP were related to CCT in the OHT group (r=0.93, P<0.001) and to CCT and AL in the non-OHT group (r=0.66, P<0.001, r=-0.81, P<0.001). CONCLUSION: The accuracy of NCT in the diagnosis of pediatric OHT is low. The agreement of CST-IOP and GAT-IOP was significantly higher in children with and without OHT than in those with NCT-IOP and GAT-IOP. Therefore, CST can be used as a good alternative for IOP measurement in children. The impacts of CCT and AL on NCT measurement need to be fully considered when managing childhood IOP.

4.
Nanomicro Lett ; 15(1): 223, 2023 Oct 09.
Article in English | MEDLINE | ID: mdl-37812339

ABSTRACT

Room temperature low threshold lasing of green GaN-based vertical cavity surface emitting laser (VCSEL) was demonstrated under continuous wave (CW) operation. By using self-formed InGaN quantum dots (QDs) as the active region, the VCSEL emitting at 524.0 nm has a threshold current density of 51.97 A cm-2, the lowest ever reported. The QD epitaxial wafer featured with a high IQE of 69.94% and the δ-function-like density of states plays an important role in achieving low threshold current. Besides, a short cavity of the device (~ 4.0 λ) is vital to enhance the spontaneous emission coupling factor to 0.094, increase the gain coefficient factor, and decrease the optical loss. To improve heat dissipation, AlN layer was used as the current confinement layer and electroplated copper plate was used to replace metal bonding. The results provide important guidance to achieving high performance GaN-based VCSELs.

5.
Epilepsia ; 64(10): 2667-2678, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37522416

ABSTRACT

OBJECTIVE: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism. METHODS: Patients with SeLECTS were divided into an untreated group and a monotherapy group, and the third group was a healthy control group. We determined the levels of various biochemical markers of bone metabolism, including procollagen type I nitrogenous propeptide (PINP), alkaline phosphatase (ALP), osteocalcin (OC), collagen type I cross-linked C-telopeptide (CTX), calcium, magnesium, phosphorus, parathyroid hormone (PTH), and vitamin D3 (VD3 ). RESULTS: A total of 1487 patients (from 19 centers) were diagnosed with SeLECTS; 1032 were analyzed, including 117 patients who did not receive any ASMs (untreated group), 643 patients who received only one ASM (monotherapy group), and 272 children in the healthy control group. Except for VD3 , other bone metabolism of the three groups were different (p < .001). Bone metabolism was significantly lower in the untreated group than the healthy control group (p < .05). There were significant differences between the monotherapy and healthy control group in the level of many markers. However, when comparing the monotherapy and untreated groups, the results were different; oxcarbazepine, levetiracetam, and topiramate had no significant effect on bone metabolism. Phosphorus and magnesium were significantly lower in the valproic acid group than the untreated group (adjusted p < .05, Cliff's delta .282-.768). CTX was significantly higher in the lamotrigine group than in the untreated group (adjusted p = .012, Cliff's delta = .316). SIGNIFICANCE: Epilepsy can affect many aspects of bone metabolism. After controlling epilepsy and other confounders that affect bone metabolism, we found that the effects of ASMs on bone metabolism differed. Oxcarbazepine, levetiracetam, and topiramate did not affect bone metabolism, and lamotrigine corrected some of the abnormal markers of bone metabolism in patients with epilepsy.

6.
J Colloid Interface Sci ; 650(Pt B): 1235-1243, 2023 Nov 15.
Article in English | MEDLINE | ID: mdl-37478740

ABSTRACT

The demand for flexible strain sensors with high sensitivity and durability has increased significantly. However, traditional sensors are limited in terms of their detection ranges and fabrications. In this work, a space stacking method was proposed to fabricate natural rubber (NR)/ Ti3C2Tx (MXene)/silica (SiO2) films that possessed exceptional electrical conductivity, sensitivity and reliability. The introduction of SiO2 into the NR/MXene composite enabled the construction of an "island-chain structure", which promoted the formation of conductive pathways and significantly improved the conductivity of the composite. Specifically, the electrical conductivity of the NR/MXene/10 wt%SiO2 composite was enhanced by about 200 times compared to that of the NR/MXene composite alone (from 0.07 to 13.4 S/m). Additionally, the "island-chain structure" further enhanced the sensing properties of the NR/MXene/10 wt%SiO2 composite, as evidenced by its excellent sensitivity (GF = 189.2), rapid response time (102 ms), and good repeatability over 10,000 cycles. The fabricated device demonstrates an outstanding mechanical sensing performance and can accurately detect human physiological signals. Specifically, the device serves as a strain detector, recognizing different strain signals by monitoring the movement of fingers, arms, and thighs. This study provides critical insights into composite manufacturing with exceptional conductivity, flexibility and stability, which are essential properties for creating high-performance flexible sensors.


Subject(s)
Rubber , Silicon Dioxide , Humans , Reproducibility of Results , Electric Conductivity
7.
Sci Rep ; 13(1): 4193, 2023 03 14.
Article in English | MEDLINE | ID: mdl-36918699

ABSTRACT

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged < 18 years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the mitochondrial disease criteria (MDC) and molecular diagnostic yield of dual genomic sequencing. Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Forty-six patients (9.1%) had mitochondria-related variants, including 25 patients with nuclear DNA (nDNA) variants, 15 with mitochondrial DNA (mtDNA) variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3). Based on the MDC, 15.2% of the patients with mitochondria-related variants were classified as "unlikely to have mitochondrial disorder". Moreover, 4.5% of the patients with non-mitochondria-related variants and 1.43% with negative genetic tests, were classified as "probably having mitochondrial disorder". Dual genomic sequencing in suspected MDs provided a more comprehensive and accurate diagnosis for pediatric patients, especially for patients with dual genomic variants.


Subject(s)
Aspartate-tRNA Ligase , Mitochondrial Diseases , Humans , Child , Retrospective Studies , Mutation , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , DNA, Mitochondrial/genetics , Genomics
8.
Vet Res Forum ; 14(1): 7-12, 2023.
Article in English | MEDLINE | ID: mdl-36816861

ABSTRACT

Gosling plague caused by goose parvovirus (GPV), a highly infectious septic disease with high mortality, has caused substantial loss in the waterfowl industry. A method for the rapid detection of GPV is needed. In this study, we isolated the virus strain of GPV in May 2020 and applied it to the loop-mediated isothermal amplification (LAMP) assay. We designed five sets of primers for the goose parvovirus VP3 gene by LAMP. The GV-1 primer set was selected to detect GPV sensitively and rapidly. LAMP was more sensitive compared to PCR. In addition, the LAMP method could complete detection within 60 min which was faster than the PCR assay. The LAMP provided a convenient and effective experimental method for detection of GPV for inspection and quarantine departments and health care units in China, and it is expected to become a simple and routine detection method, especially suitable for goose farms.

9.
Opt Express ; 30(15): 27472-27481, 2022 Jul 18.
Article in English | MEDLINE | ID: mdl-36236918

ABSTRACT

Dual-wavelength switchable emission has been demonstrated in InGaN quantum dot (QD) micro-cavity light-emitting diodes (MCLEDs). By simply modulating the injected current levels, the output of the device can be dynamically tuned between the two distinct cavity modes at 498.5 and 541.7 nm, exhibiting deterministic mode switching in the green spectral range. Owing to the microcavity effect, high spectral purity with a narrow linewidth of 0.21 nm was obtained. According to the experimental and theoretical results, it can be concluded that the dual-wavelength switching for the investigated MCLEDs is ascribed to the broad and tunable gain of a thin InGaN QD active region, together with the mode selection and enhancement effect of the cavity. To provide additional guidelines for controllable dual-wavelength switchable operation in nitride-based light-emitting devices, detailed design and fabrication strategies are discussed. This work presents an effective method to achieve mode switching for practical applications such as multi-wavelength optical recording, frequency mixing, flip-flop and optical switches.

10.
BMJ Open ; 12(7): e058770, 2022 07 04.
Article in English | MEDLINE | ID: mdl-35788068

ABSTRACT

OBJECTIVE: To explore the impact of the COVID-19 on the distribution, type and patterns of diseases in hospitalised children under local antiepidemic measures. DESIGN: Retrospective chart review. SETTING: Electronic medical records of patients hospitalised in the paediatric department of a tertiary hospital in South China from 21 January 2019 to 20 January 2021. PARTICIPANTS: Records of 2139 patients. OUTCOME MEASURES: Data were analysed before and during the COVID-19 pandemic. Disease characteristics were analysed based on the 10th revision of the International Statistical Classification of Diseases and Related Health Problems. Features of the length of hospital stay were investigated. Categorical variables involving more than three groups were analysed using an overall χ2 test, followed by pairwise comparisons. RESULTS: During the COVID-19 outbreak period, paediatric hospitalisation was reduced by 29.6%, from 1255 to 884. The proportions of infection-related diseases (36.3% (455 cases) vs 20.8% (184 cases)), respiratory system-related diseases (22.5% (283 cases) vs 9.4% (83 cases)); and endocrine, nutritional and metabolic diseases (17.1% (214 cases) vs 9.2% (81 cases)) decreased significantly, whereas that of musculoskeletal and connective tissue diseases increased from 11.0% (138 cases) to 20.1% (178 cases), thereby becoming the most common reason for hospitalisation. The proportions of diseases of the nervous system (12.4% (156 cases) to 18.8% (166 cases)) and mental and behavioural disorders (0.2% (3 cases) to 2.1% (19 cases)) increased significantly. The average length of hospital stay increased after the outbreak (7.57±6.53 vs 8.36±6.87). CONCLUSION: The number of hospitalisation cases decreased during the COVID-19 period. The prominent decreases in hospitalisation associated with infections and respiratory system diseases were likely attributed to the improved epidemic prevention work, enhancement of people's health awareness and fear of possible exposure to COVID-19. Describing the impact of COVID-19 on disease patterns may provide a reference for resource planning during the pandemic.


Subject(s)
COVID-19 , Communicable Diseases , Respiration Disorders , COVID-19/epidemiology , Child , Hospitalization , Humans , Pandemics , Retrospective Studies , Tertiary Care Centers
11.
Int J Ophthalmol ; 15(5): 807-812, 2022.
Article in English | MEDLINE | ID: mdl-35601163

ABSTRACT

AIM: To evaluate the prevalence of refractive errors and ocular biometry in 3573 freshman students at Tianjin Medical University for 4 consecutive years. METHODS: In this university-based, cross-sectional study, comprising 3573 students, visual acuity (VA), slit-lamp examination, non-cycloplegic auto-refraction, and ocular biometry were recorded. RESULTS: The prevalence of myopia increased annually, from 2017 to 2020 were 93.5%, 94.5%, 95.9%, and 96.2%, respectively (P=0.03), and the prevalence of high myopia was 25.7%, 26.9%, 28.6%, and 28.6%, respectively. Males tended to have a higher percentage of total astigmatism than females, with astigmatism ≥0.75 and ≥1.0 D criteria. The percentage of with-the-rule astigmatism, against-the-rule astigmatism, and oblique astigmatism was 90.3%, 5.8%, and 3.9%, respectively, with astigmatism ≥1.00 D criteria. The mean spherical equivalent, axial length (AL), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), corneal radius (CR), and lens position (LP) were 4.37±2.52 D, 25.28±1.24 mm, 539.49±34.98 µm, 3.31±0.34 mm, 3.47±0.21 mm, 7.8±0.28 mm, and 5.04±0.32 mm, respectively. With diopter increase in myopia, the AL became longer, CR became steeper, ACD became deeper, LT became thinner, and LP became more posterior (all P<0.01). Females had a shorter AL, thinner CCT, smaller CR, shallower ACD, thicker lens, and more anterior LP than males (P<0.01). The 64% of high myopia had AL≥26 mm, meanwhile, 5.8% mild myopia and 21.1% moderate myopia had AL≥26 mm. With AL≥26 mm, mild and moderate myopia compared to high myopia, AL was shorter (26.51±0.46 vs 26.87±0.70 mm), CR was larger (8.10±0.3 vs 7.85±0.23 mm) and LT was thinner (3.39±0.19 vs 3.45±0.19 mm, P<0.001). CONCLUSION: The prevalence of myopia and high myopia is significantly high in freshman students. The majority of astigmatism is with-the-rule. Inconformity of refractive errors and ocular biometry existed in some students. Attention should be paid to the ocular biometry of myopia.

12.
Transl Lung Cancer Res ; 11(4): 523-542, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35529784

ABSTRACT

Background: Macrophages are critical players in regulating innate and adaptive immunity in the tumor microenvironment (TME). The prognostic value of macrophages and their heterogeneous phenotypes in non-small cell lung cancer (NSCLC) is still uncertain. Methods: Surgically-resected samples of 681 NSCLC cases were stained by multiplex immunofluorescence to examine macrophage phenotypes as well as the expression levels of program death-ligand 1 (PD-L1) on them in both tumor nest and tumor stroma, including pan-macrophage (CD68+), M1 (CD68+CD163-), and M2 macrophages (CD68+CD163+). Various other immune cell markers, including CD4, CD8, CD20, CD38, CD66B, FOXP3, and CD133, were also evaluated. Machine learning algorithm by Random Forest (RF) model was utilized to screen the robust prognostic markers and construct the CD68-based immune-related risk score (IRRS) for predicting disease-free survival (DFS). Results: The expression levels of CD68 were moderately correlated with the levels of PD-L1 (P<0.001), CD133 (P<0.001), and CD8 (P<0.001). Higher levels of CD68 (OR 1.03, 95% CI: 1.01-1.05, P<0.001) as well as M1 macrophage (OR 1.04, 95% CI: 1.01-1.06, P<0.001) indicated shorter DFS. Despite without statiscial significance, intratumoral M2 macrophage (OR 1.05, 95% CI: 0.99-1.10, P=0.081) was also associated with worse DFS. IRRS incorporating three intratumoral CD68-related markers and four intrastromal markers was constructed and validated to predict recurrence (high-risk group vs. low-risk group: OR 2.52, 95% CI: 1.89-3.38, P<0.001). The IRRS model showed good accuracy [area under the curve (AUC) =0.670, 0.709, 0.695, 0.718 for 1-, 3-, 5-year, and overall DFS survival, respectively] and the predictive performance was better than the single-marker model (area under the curve 0.718 vs. 0.500-0.654). A nomogram based on clinical characteristics and IRRS for relapse prediction was then established and exhibited better performance than the tumor-node-metastasis (TNM) classification and IRRS system (C-index 0.76 vs. 0.69 vs. 0.60, 0.74 vs. 0.67 vs. 0.60, 0.81 vs. 0.74 vs. 0.60 of the entire, training, testing cohort, respectively). Conclusions: Our study suggested close interactions between CD68 and other immune markers in TME, demonstrating the prognostic value of CD68 in relapse prediction in resectable NSCLC.

13.
World J Clin Cases ; 10(1): 338-344, 2022 Jan 07.
Article in English | MEDLINE | ID: mdl-35071537

ABSTRACT

BACKGROUND: Ullrich congenital muscular dystrophy (UCMD) is one of the collagen-VI-related myopathies caused by mutations of COL6A1, COL6A2, and COL6A3 genes. Affected individuals are characterized by muscle weakness, proximal joint contracture, distal joint hyperlaxity, and progressive respiratory failure. There is currently no cure for UCMD. Here, we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD. CASE SUMMARY: A 3-year-old boy, his 4-year-old brother, their parents, and a 20-wk-old fetus in the mother's womb were included in the study. The brothers had the typical manifestations of the early-severe subtype: A delayed motor milestone (never walking independently), torticollis, scoliosis, proximal joint contracture, distal joint hyperextension, right hip joint dislocation, and calcaneal protuberance. Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene (c.1353_c.1354insC, p.Arg453ProfsTer42/c.2105G>A, p.Trp702Ter). The absence of collagen VI staining in the younger brother's muscle was identified accurately. Genetic counseling and prenatal diagnosis were crucial for the family, as the autosomal recessive genetic disease affected a quarter of the patient's siblings. The fetus of the mother's third child underwent prenatal diagnosis and carried the same two mutations of COL6A2, confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats. After a painful psychological struggle, the parents finally decided to terminate the pregnancy. CONCLUSION: We report a Chinese family suffering from UCMD. By clarifying the COL6A2 mutations in the probands, the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.

14.
Phys Chem Chem Phys ; 23(19): 11528-11537, 2021 May 21.
Article in English | MEDLINE | ID: mdl-33960343

ABSTRACT

Ni-rich layered oxides, like LiNi0.8Co0.1Mn0.1O2 (NCM811), have been widely investigated as cathodes due to their high energy density. However, gradual structural transformation during cycling can lead to capacity degradation and potential decay of cathode materials. Herein, we doped high-valence transition metal (TM) ions (V5+, Nb5+, and Zr4+) at the Ni site of NCM811 by first principles simulations and explored the mechanism of doping TMs in NCMs for enhancing the electrochemical performance. Analysis of the calculations shows that doping V, Nb and Zr has an efficient influence on alleviating the Ni oxidation, reducing the loss of oxygen, and facilitating Li+ migration. Moreover, V doping can further suppress the lattice distortion due to the radius of V5+ being close to the radius of Mn4+. In particular, compared with the barrier of the pristine NCM in Li divacancy, the barrier of V-doped NCM reaches the lowest. In conclusion, V is the most favorable dopant for NCM811 to improve the electrochemical properties and achieve both high capacity and cycling stability.

15.
Int J Ophthalmol ; 14(4): 600-605, 2021.
Article in English | MEDLINE | ID: mdl-33875954

ABSTRACT

The incidences of open angle glaucoma (OAG) and high myopia are increasing concomitantly. Considering the aging population and concurrent rapid increase in the number of individuals with myopia, the risk of visual defects caused by highly myopic OAG is likely to increase dramatically over the next few decades. However, precise screening and diagnosis of OAG is challenging because of the tilt and rotation of the optic disc, as well as extensive ß-zone parapapillary atrophy in highly myopic eyes. Recent advances in optical coherence tomography (OCT) and OCT angiography (OCTA) technologies imply that both modalities are promising tools for the detection of highly myopic OAG. Notably, the diagnosis of OAG remains to be determined with the longitudinal changes of functional damages (e.g. visual field defect, visual electrophysiological changes). We herein describe some aspects of microvascular and microstructural pathology in patients with highly myopic OAG and proposes a framework for the development of novel diagnostic and therapeutic strategies.

16.
Brain ; 144(10): 3050-3060, 2021 11 29.
Article in English | MEDLINE | ID: mdl-33876820

ABSTRACT

The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain-predominantly in the cerebral cortex-and plays an essential role in synaptic vesicle priming and fusion, potentially affecting neuronal excitability. However, the functional significance of the UNC13B mutation in human disease is not known. In this study, we screened for novel genetic variants in a cohort of 446 unrelated cases (families) with partial epilepsy without acquired causes by trio-based whole-exome sequencing. UNC13B variants were identified in 12 individuals affected by partial epilepsy and/or febrile seizures from eight unrelated families. The eight probands all had focal seizures and focal discharges in EEG recordings, including two patients who experienced frequent daily seizures and one who showed abnormalities in the hippocampus by brain MRI; however, all of the patients showed a favourable outcome without intellectual or developmental abnormalities. The identified UNC13B variants included one nonsense variant, two variants at or around a splice site, one compound heterozygous missense variant and four missense variants that cosegregated in the families. The frequency of UNC13B variants identified in the present study was significantly higher than that in a control cohort of Han Chinese and controls of the East Asian and all populations in the Genome Aggregation Database (gnomAD). Computational modelling, including hydrogen bond and docking analyses, suggested that the variants lead to functional impairment. In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila. Electrophysiological recordings showed that excitatory neurons in Unc13b-deficient flies exhibited increased excitability. These results indicate that UNC13B is potentially associated with epilepsy. The frequent daily seizures and hippocampal abnormalities but ultimately favourable outcome under anti-epileptic therapy in our patients indicate that partial epilepsy caused by UNC13B variant is a clinically manageable condition.


Subject(s)
Epilepsies, Partial/diagnostic imaging , Epilepsies, Partial/genetics , Genetic Variation/genetics , Nerve Tissue Proteins/genetics , Adolescent , Adult , Amino Acid Sequence , Animals , Animals, Genetically Modified , Child , Child, Preschool , Drosophila , Epilepsies, Partial/physiopathology , Female , Humans , Male , Treatment Outcome
17.
Front Med (Lausanne) ; 7: 571069, 2020.
Article in English | MEDLINE | ID: mdl-33251228

ABSTRACT

Objectives: The 2019 novel coronavirus disease (COVID-19) pandemic is the biggest public health crises in the 21st century. While most patients infected with the COVID-19 virus have no to moderate symptoms, there is currently limited clinical information about these patients. Methods: In this study, we retrospectively investigated 41 patients infected with the COVID-19 virus in Nanchang, Jiangxi province, China, from February 4 to March 2, 2020. Nanchang is about 260 km southeast of Wuhan, the initial epicenter of the COVID-19 pandemic. We retrieved information on patient demographics, physical examination results, epidemiology, clinical manifestations, underlying conditions, laboratory analyses, radiological images, and treatment outcomes. Results: Most patients (70.7%) had a history of close contact with patients with confirmed COVID-19, and 16 patients (39.0%) showed a high degree of family clustering. All 41 patients had no to moderate symptoms. The median age was 39.9 years and common symptoms of illness were fever (69.2%), cough (65.4%), and fatigue (19.2%). The dominant patient group was middle-aged women, with hypertension (14.6%) and chronic liver disease (12.2%) as the most frequent underlying conditions. All patients recovered, with the mean time of viral nucleic acid clearance at 10.6 days. Chest CT scans presented ground-glass opacities in 53.7% of patients while 26.8% had normal CT images. Laboratory results showed that lymphocyte counts, lymphocyte percentages, ESR, CRP, IgG, Fib, and cytokines were correlated to patients' conditions. Approximately 60-90% of patients had abnormally high levels of cytokines IL-4, IL-6, IL-10, and/or TNF-α. Conclusions: Our results showed variable clinical and laboratory presentations among this group of patients infected with the COVID-19 virus. Though all 41 patients recovered, our results suggest that cytokine levels and other biochemical indicators should be monitored for patients infected with the COVID-19 virus showing no to moderate symptoms to ensure quick access for critical medical attention, if needed.

18.
J Nanosci Nanotechnol ; 20(12): 7743-7747, 2020 Dec 01.
Article in English | MEDLINE | ID: mdl-32711652

ABSTRACT

A thin, clean pristine Au film created in a transmission electron microscope chamber was tailored by an electron beam. Various kinds of nanopatterns, including hexagonal holes and dumbbell-like patterns, were fabricated by different doses of the electron beam. A high-quality series of in situ images were recorded to explore the irradiation mechanism. The electron-matter collision enabled the electron beam to act as a tweezer to arrange atoms into a specified pattern.

19.
Braz J Microbiol ; 51(3): 1061-1069, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32363569

ABSTRACT

Due to the increasing use of immunosuppressant therapy, Pneumocystis jirovecii pneumonia (PJP) has become an emerging concern in human immunodeficiency virus (HIV)-negative patients. In this study, we conducted a retrospective study of 96 hospitalized patients with PJP from January 2015 to June 2019 at three tertiary comprehensive hospitals in Southern China. Information was collected regarding patient demographics, clinical manifestations, risk factors, laboratory analyses, radiological images, and treatment outcomes. PJP infection was most commonly found in middle-aged men. Kidney diseases (35.5%) and connective tissue diseases (38.7%) were the predominant risk factors for PJP. About half of the patients (48.4%) received glucocorticoid, immunosuppressant, and/or chemotherapy in a low dose or in a short-term (< 3 months). None of the patients had previously received trimethoprim-sulfamethoxazole (TMP-SMX) for PJP prophylaxis. All patients had two or more clinical manifestations (cough, dyspnea, fever, and chest pain). Biochemical investigations of CRP, ESR, PaO2, LDH, and KL-6 showed that over 90% of the patients exceeded the reference range of indicators. Our analyses revealed the dominant risk factors (HIV, kidney diseases, and connective tissue diseases) and the most consistent biochemical indicators (LDH, BG, and KL-6) for PJP. Moreover, early prophylaxis, diagnosis, and treatment should contribute to improve the survival of these PJP patients.


Subject(s)
Pneumocystis carinii/isolation & purification , Pneumonia, Pneumocystis/microbiology , Adult , Aged , Antifungal Agents/administration & dosage , China/epidemiology , Female , Humans , Male , Middle Aged , Pneumocystis carinii/drug effects , Pneumocystis carinii/physiology , Pneumonia, Pneumocystis/diagnostic imaging , Pneumonia, Pneumocystis/drug therapy , Pneumonia, Pneumocystis/epidemiology , Retrospective Studies , Tertiary Care Centers/statistics & numerical data , Trimethoprim, Sulfamethoxazole Drug Combination
20.
Chemosphere ; 249: 126166, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32062560

ABSTRACT

Rice grains are a methylmercury (MeHg) intake route for humans, especially in certain mercury (Hg)-contaminated areas. For rice plant growth, animal manure is commonly used as an organic fertilizer; however, its role in the formation of MeHg in paddy soils remains poorly understood. The aims of this study were thus to explore 1) the effect of chicken manure (CH) and cow manure (CO) addition on the production of soil MeHg and the accumulation of MeHg in rice plants and 2) the mechanism by which CH and CO addition affect the bioaccumulation of MeHg in grains. A pot experiment with different levels of CH and CO was carried out with newly deposited Hg-contaminated paddy soil. Two microcosm experiments were performed to explore the associated mechanisms. The results of the pot experiment showed that 0.1-1% CH and CO addition promoted the biomass of rice plants by 10-23% and increased the soil MeHg concentration by 34-143%, which exhibited a significant positive correlation with brown rice MeHg content. Organic fertilizer addition significantly increased MeHg bioaccumulation in rice plants and the ratio of MeHg to total Hg (THg) in brown rice. Organic fertilizer also increased the abundance of microbial methylators. The results of the microcosm experiments showed that organic fertilizer addition enhanced dissolved THg concentrations in soil and consequently increased the soil MeHg concentration. These results suggested that applying organic fertilizer to newly deposited Hg-contaminated soil may increase MeHg accumulation in grains due to enhanced Hg release and microbial methylator activity, leading to environmental health concerns.


Subject(s)
Fertilizers , Methylmercury Compounds/metabolism , Oryza/metabolism , Soil Pollutants/metabolism , Animals , Cattle , Environmental Monitoring , Environmental Pollution , Humans , Mercury/analysis , Oryza/drug effects , Soil , Soil Pollutants/analysis
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