ABSTRACT
Up to 25% of individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exhibit postacute cognitive sequelae. Although millions of cases of coronavirus disease 2019 (COVID-19)-mediated memory dysfunction are accumulating worldwide, the underlying mechanisms and how vaccination lowers risk are unknown. Interleukin-1 (IL-1), a key component of innate immune defense against SARS-CoV-2 infection, is elevated in the hippocampi of individuals with COVID-19. Here we show that intranasal infection of C57BL/6J mice with SARS-CoV-2 Beta variant leads to central nervous system infiltration of Ly6Chi monocytes and microglial activation. Accordingly, SARS-CoV-2, but not H1N1 influenza virus, increases levels of brain IL-1ß and induces persistent IL-1R1-mediated loss of hippocampal neurogenesis, which promotes postacute cognitive deficits. Vaccination with a low dose of adenoviral-vectored spike protein prevents hippocampal production of IL-1ß during breakthrough SARS-CoV-2 infection, loss of neurogenesis and subsequent memory deficits. Our study identifies IL-1ß as one potential mechanism driving SARS-CoV-2-induced cognitive impairment in a new mouse model that is prevented by vaccination.
Subject(s)
COVID-19 , Hippocampus , Interleukin-1beta , Memory Disorders , Mice, Inbred C57BL , Neurogenesis , SARS-CoV-2 , Animals , Interleukin-1beta/metabolism , Interleukin-1beta/immunology , Mice , COVID-19/immunology , COVID-19/prevention & control , SARS-CoV-2/immunology , Hippocampus/immunology , Hippocampus/metabolism , Memory Disorders/immunology , Neurogenesis/immunology , Vaccination , Spike Glycoprotein, Coronavirus/immunology , COVID-19 Vaccines/immunology , Male , Humans , Microglia/immunology , Microglia/metabolism , Disease Models, Animal , Receptors, Interleukin-1 Type I/metabolism , Receptors, Interleukin-1 Type I/genetics , Monocytes/immunology , Monocytes/metabolism , FemaleABSTRACT
Memory impairment following West Nile virus neuroinvasive disease (WNND) is associated with loss of hippocampal synapses with lack of recovery. Adult neurogenesis and synaptogenesis are fundamental features of hippocampal repair, which suggests that viruses affect these processes. Here, in an established model of WNND-induced cognitive dysfunction, transcriptional profiling revealed alterations in the expression of genes encoding molecules that limit adult neurogenesis, including interleukin 1 (IL-1). Mice that had recovered from WNND exhibited fewer neuroblasts and increased astrogenesis without recovery of hippocampal neurogenesis at 30 d. Analysis of cytokine production in microglia and astrocytes isolated ex vivo revealed that the latter were the predominant source of IL-1. Mice deficient in the IL-1 receptor IL-1R1 and that had recovered from WNND exhibited normal neurogenesis, recovery of presynaptic termini and resistance to spatial learning defects, the last of which likewise occurred after treatment with an IL-1R1 antagonist. Thus, 'preferential' generation of proinflammatory astrocytes impaired the homeostasis of neuronal progenitor cells via expression of IL-1; this might underlie the long-term cognitive consequences of WNND but also provides a therapeutic target.
Subject(s)
Astrocytes/metabolism , Interleukin-1/biosynthesis , Neurogenesis/physiology , West Nile Fever/complications , Adult Stem Cells/metabolism , Animals , Astrocytes/immunology , Cell Differentiation/physiology , Cognitive Dysfunction/etiology , Memory Disorders/etiology , Mice , Neural Stem Cells/metabolismABSTRACT
BACKGROUND: Venezuelan Equine Encephalitis virus (VEEV) may enter the central nervous system (CNS) within olfactory sensory neurons (OSN) that originate in the nasal cavity after intranasal exposure. While it is known that VEEV has evolved several mechanisms to inhibit type I interferon (IFN) signaling within infected cells, whether this inhibits virologic control during neuroinvasion along OSN has not been studied. METHODS: We utilized an established murine model of intranasal infection with VEEV and a repository of scRNAseq data from IFN-treated OSN to assess the cellular targets and IFN signaling responses after VEEV exposure. RESULTS: We found that immature OSN, which express higher levels of the VEEV receptor LDLRAD3 than mature OSN, are the first cells infected by VEEV. Despite rapid VEEV neuroinvasion after intranasal exposure, olfactory neuroepithelium (ONE) and olfactory bulb (OB) IFN responses, as assessed by evaluation of expression of interferon signaling genes (ISG), are delayed for up to 48 h during VEEV neuroinvasion, representing a potential therapeutic window. Indeed, a single intranasal dose of recombinant IFNα triggers early ISG expression in both the nasal cavity and OB. When administered at the time of or early after infection, IFNα treatment delayed onset of sequelae associated with encephalitis and extended survival by several days. VEEV replication after IFN treatment was also transiently suppressed in the ONE, which inhibited subsequent invasion into the CNS. CONCLUSIONS: Our results demonstrate a critical and promising first evaluation of intranasal IFNα for the treatment of human encephalitic alphavirus exposures.
Subject(s)
Encephalitis Virus, Venezuelan Equine , Olfactory Receptor Neurons , Humans , Mice , Animals , Encephalitis Virus, Venezuelan Equine/genetics , Central Nervous System , Virus ReplicationABSTRACT
Since Cu2+ ions play a pivotal role in both ecosystems and human health, the development of a rapid and sensitive method for Cu2+ detection holds significant importance. Fluorescent mesoporous silica materials (FMSMs) have garnered considerable attention in the realm of chemical sensing, biosensing, and bioimaging due to their distinctive structure and easily functionalized surfaces. As a result, numerous Cu2+ sensors based on FMSMs have been devised and extensively applied in environmental and biological Cu2+ detection over the past few decades. This review centers on the recent advancements in the methodologies for preparing FMSMs, the mechanisms underlying sensing, and the applications of FMSMs-based sensors for Cu2+ detection. Lastly, we present and elucidate pertinent perspectives concerning FMSMs-based Cu2+ sensors.
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Objectives: This study aimed to explore the experiences and caregiving perspectives of mothers from low-income families who have children with asthma,and to establish a foundation for the development of tailored nursing strategies specifically designed for families facing similar circumstances. Method: A descriptive qualitative research method was employed. Fifteen mothers of asthmatic children from low-income families receiving treatment at the Respiratory Centre of Chongqing Children's Hospital were purposefully sampled from June to December 2021. Semi-structured interviews were conducted to gather data on their caregiving experiences, and thematic analysis was utilized to analyze the interview data. Results: The interviewees were 27-42 years old (SD=32.3 years), 33.3% were full-time mothers(A woman who quit work, in order to focus on taking care of the child and the family ), 53.3% had one child, 46.6% had a college degree or higher, and 100% had health insurance. Through in-depth interviews, four main themes and eight sub-themes were identified, including (a) insufficient knowledge about the disease, (b) anxiety and uncertainty, (c) insufficient social support system, and (d) insufficient resources for medical services. The first theme describes a weak willingness to learn and medication discontinuation at will. The second theme describes financial burden and psychological stress, the third theme describes lack of family support and low social participation, and the fourth theme describes insufficient health insurance support and unequal distribution of healthcare resources. Conclusion: Mothers from low-income families with asthmatic children face substantial psychological burdens and familial pressures. It is crucial for healthcare professionals to actively engage with and deepen their understanding of these mothers' caregiving experiences and psychological well-being. By doing so, positive coping strategies can be developed, promoting the physical and mental health of these mothers and improving asthma control in their children.
ABSTRACT
Infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is associated with acute and postacute cognitive and neuropsychiatric symptoms including impaired memory, concentration, attention, sleep and affect. Mechanisms underlying these brain symptoms remain understudied. Here we report that SARS-CoV-2-infected hamsters exhibit a lack of viral neuroinvasion despite aberrant blood-brain barrier permeability. Hamsters and patients deceased from coronavirus disease 2019 (COVID-19) also exhibit microglial activation and expression of interleukin (IL)-1ß and IL-6, especially within the hippocampus and the medulla oblongata, when compared with non-COVID control hamsters and humans who died from other infections, cardiovascular disease, uraemia or trauma. In the hippocampal dentate gyrus of both COVID-19 hamsters and humans, we observed fewer neuroblasts and immature neurons. Protracted inflammation, blood-brain barrier disruption and microglia activation may result in altered neurotransmission, neurogenesis and neuronal damage, explaining neuropsychiatric presentations of COVID-19. The involvement of the hippocampus may explain learning, memory and executive dysfunctions in COVID-19 patients.
Subject(s)
COVID-19 , Humans , Cytokines , SARS-CoV-2 , Hippocampus , Neurogenesis/physiologyABSTRACT
BACKGROUND: Anxiety, depression, and stress are the most common mental health problems in childhood. Exercise interventions in childhood help to promote mental health. OBJECTIVE: To investigate the relationship between exercise interventions and improvement of negative emotions such as anxiety, depression, and stress in children (5-12 years). METHODS: Articles were searched in five electronic databases from their inception to January 2023. The meta-analysis was performed using Stata 16.0. RESULTS: Twenty-three intervention studies included 6830 children. 1) The exercise intervention group was significantly better than the control group in improving negative emotions (Standard Mean Difference SMD=-0.25, 95% Confidence Intervals CI: -0.34 to -0.15, P < 0.01). Exercise intervention improved different kinds of negative emotions: anxiety (SMD=-0.19, 95% CI: -0.33 to -0.06, P < 0.01), depression (SMD=-0.22, 95% CI: -0.43 to -0.01, P < 0.01), and stress (SMD=-0.33, 95% CI: -0.53 to -0.14, P < 0.01); it was most effective at relieving problematic stress. Exercise interventions lasting 20-45 min were most effective in improving children's negative emotions (SMD=-0.38, 95% CI: -0.56 to -0.20, P < 0.01). An exercise intervention period of 10 weeks was more effective in improving children's negative mood (SMD=-0.26, 95% CI: -0.34 to -0.17, P = 0.274). CONCLUSION: Exercise interventions may improve negative emotions such as anxiety, depression, and stress in children. These findings may have clinical implications for children with negative affect. However, these studies showed a large heterogeneity, and the results should be interpreted with caution. Future studies should report the variability of exercise interventions by gender, age group, and type, intensity, and place of exercise.
Subject(s)
Anxiety , Exercise , Child , Humans , Anxiety/prevention & control , Databases, Factual , Exercise Therapy , Mental Health , Child, PreschoolABSTRACT
Soil profile moisture is a crucial parameter of agricultural irrigation. To meet the demand of soil profile moisture, simple fast-sensing, and low-cost in situ detection, a portable pull-out soil profile moisture sensor was designed based on the principle of high-frequency capacitance. The sensor consists of a moisture-sensing probe and a data processing unit. The probe converts soil moisture into a frequency signal using an electromagnetic field. The data processing unit was designed for signal detection and transmitting moisture content data to a smartphone app. The data processing unit and the probe are connected by a tie rod with adjustable length, which can be moved up and down to measure the moisture content of different soil layers. According to indoor tests, the maximum detection height for the sensor was 130 mm, the maximum detection radius was 96 mm, and the degree of fitting (R2) of the constructed moisture measurement model was 0.972. In the verification tests, the root mean square error (RMSE) of the measured value of the sensor was 0.02 m3/m3, the mean bias error (MBE) was ±0.009 m3/m3, and the maximum error was ±0.039 m3/m3. According to the results, the sensor, which features a wide detection range and good accuracy, is well suited for the portable measurement of soil profile moisture.
ABSTRACT
BACKGROUND: Acute kidney injury (AKI) is common and it is associated with poor clinical outcomes in premature and low birth weight neonates. This systematic review and meta-analysis was performed to summarize the literature and evaluate the prevalence, risk factors, and mortality of premature and low birth weight neonates with AKI. METHODS: A systematic search in PubMed, Embase, and the Cochrane Library was performed. Studies on the prevalence, risk factors, diagnosis, and outcomes of acute kidney injury in preterm neonates and neonates with low birth weight were included and analyzed. RESULTS: Fifty articles of 10,744 patients were included in this study. The overall rate of AKI from the pooled results of all patients was 25% (95% CI 20-30%) with heterogeneity among studies (I2 = 97%; P < 0.01). Patients with AKI had significantly higher rate of mortality than patients without AKI (odds ratio (OR) = 7.13; 95% CI 5.91-8.60; P < 0.01). CONCLUSIONS: AKI was prevalent and was associated with high mortality rate among preterm and low birth weight neonates.
Subject(s)
Acute Kidney Injury , Acute Kidney Injury/etiology , Female , Humans , Infant, Low Birth Weight , Infant, Newborn , Male , Prevalence , Risk FactorsABSTRACT
Over 50% of patients who survive neuroinvasive infection with West Nile virus (WNV) exhibit chronic cognitive sequelae. Although thousands of cases of WNV-mediated memory dysfunction accrue annually, the mechanisms responsible for these impairments are unknown. The classical complement cascade, a key component of innate immune pathogen defence, mediates synaptic pruning by microglia during early postnatal development. Here we show that viral infection of adult hippocampal neurons induces complement-mediated elimination of presynaptic terminals in a murine WNV neuroinvasive disease model. Inoculation of WNV-NS5-E218A, a WNV with a mutant NS5(E218A) protein leads to survival rates and cognitive dysfunction that mirror human WNV neuroinvasive disease. WNV-NS5-E218A-recovered mice (recovery defined as survival after acute infection) display impaired spatial learning and persistence of phagocytic microglia without loss of hippocampal neurons or volume. Hippocampi from WNV-NS5-E218A-recovered mice with poor spatial learning show increased expression of genes that drive synaptic remodelling by microglia via complement. C1QA was upregulated and localized to microglia, infected neurons and presynaptic terminals during WNV neuroinvasive disease. Murine and human WNV neuroinvasive disease post-mortem samples exhibit loss of hippocampal CA3 presynaptic terminals, and murine studies revealed microglial engulfment of presynaptic terminals during acute infection and after recovery. Mice with fewer microglia (Il34(-/-) mice with a deficiency in IL-34 production) or deficiency in complement C3 or C3a receptor were protected from WNV-induced synaptic terminal loss. Our study provides a new murine model of WNV-induced spatial memory impairment, and identifies a potential mechanism underlying neurocognitive impairment in patients recovering from WNV neuroinvasive disease.
Subject(s)
Complement System Proteins/immunology , Memory Disorders/pathology , Memory Disorders/virology , Microglia/immunology , Neuronal Plasticity , Presynaptic Terminals/pathology , West Nile virus/pathogenicity , Animals , CA3 Region, Hippocampal/immunology , CA3 Region, Hippocampal/pathology , CA3 Region, Hippocampal/virology , Complement Activation , Complement Pathway, Classical/immunology , Disease Models, Animal , Female , Humans , Male , Memory Disorders/immunology , Memory Disorders/physiopathology , Mice , Neurons/immunology , Neurons/pathology , Neurons/virology , Presynaptic Terminals/immunology , Spatial Memory , West Nile Fever/pathology , West Nile Fever/physiopathology , West Nile Fever/virology , West Nile virus/immunologyABSTRACT
BACKGROUND: Physical restraints are defined as a manual approach to reduce a patient's physical movement and has been regarded as a protective nursing measure in the intensive care unit (ICU) to avoid unplanned extubation, falls, and other unexpected events. However, the limitations and changes associated with physical restraints have been verified by several studies. Restraint minimization has been advocated by studies worldwide; however, the most effective interventions are still being explored. AIM: To identify and map nurse education strategies that reduce the use of physical restraints in the ICU. DESIGN AND METHODS: A systematic literature search that followed the steps of a scoping review was performed in the Cochrane, PubMed, Embase, CINAHL, CNKI, Wan Fang Data, and VIP databases. We included studies that focused on nurse education aiming to reduce the use of physical restraints and/or use physical restraints reasonably. RESULTS: The included studies (n = 12) described a variety of education strategies. Two delivery modes, eight common course durations, 14 main topics, two types of teaching methods with various materials, and two kinds of outcome measurements were identified and compared. CONCLUSION: There are a variety of nurse education activities that could effectively improve ICU nurses' knowledge, attitudes, and behaviours towards physical restraints. However, the strategies of nurse education, such as delivery mode, teaching methods, and outcome measurements, require further study. RELEVANCE TO CLINICAL PRACTICE: Nurse education on physical restraints should be carried out in ICUs. Online courses, practical sessions, and simulated scenarios should be a part of future nurse education. In addition to nurses' knowledge and attitude changes, frequency of physical restraints and other patient-related outcomes should also be considered for outcome evaluation.
Subject(s)
Nurses , Restraint, Physical , Humans , Attitude of Health Personnel , Clinical Competence , Surveys and Questionnaires , Intensive Care Units , Education, Nursing, ContinuingABSTRACT
Flexible optical sensors are widely studied and applied in many fields. However, developing highly stable and washable wearable sensors in optics is still facing significant challenges. Here, we demonstrate an AIEgen-organosilica framework (TPEPMO) hybrid nanostructure-based flexible optical sensor, which is prepared by a two-step co-condensation and electrospinning superassembly process. Organosilica precursors with aggregation-induced emission (AIE) features are covalently linked into periodic mesoporous organosilica (PMO) frameworks with high fluorescent efficiency due to the restriction of intramolecular motion. The three-dimensional space of ordered porous materials provides abundant reaction sites, allowing rapid and sensitive monitoring of analytes. TPEPMOs exhibit good properties as acidic pH fluorescent sensors with a pKa of 4.3. A flexible film is obtained by dispersing TPEPMO nanospheres in a poly(lactic-co-glycolic acid) (PLGA) and polyacrylonitrile (PAN) hybrid fibrous matrix (TPEPMO-CFs) using the electrospinning superassembly technique and is successfully served as an efficient fluorescent probe for the naked eye detection of ammonia gas and HCl vapor by emission changes. The fluorescence of TPEPMO-CFs can be reversed in the presence of volatile acidic/alkaline gas for more than five cycles, exhibiting excellent recyclability. In addition, TPEPMO-CF sensors show excellent washability and long-term photostability (fluorescence was maintained above 94% after washing 10 times). These stimuli-responsive AIEgen-organosilica frameworks featuring diversified forms and superstability for wearable and washable solid-state fluorescence exhibit great potential for smart gas sensors, wearable devices, and solid-state lighting applications.
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This study aims to clarify the role and molecular mechanism of dynamin-related protein 1 (Drp1)-mediated mitochondrial homeostasis in high glucose (HG)-induced endometrial cancer (EC). Normal endometrium and tumor tissues of EC patients with normal and HG levels were collected, and Drp1 and p-Drp1 expression levels were detected by immunohistochemistry. Human EC cells were cultured with different glucose concentrations, and Drp1 and p-Drp1 expression levels were evaluated by Western blotting. Cell models of control and siDrp1 groups under normal and HG conditions were established, and subsequent functional experiments were conducted. Histology and in vitro experiments showed that the HG environment increased Drp1 activation, which could lead to mitochondrial dysfunction. Moreover, the imbalance of mitochondrial homeostasis mediated by Drp1 resulted in cell dysfunction, including altered glucose metabolism and increased epithelial-mesenchymal transition (EMT), migration and invasion. All these changes caused by HG could be partially alleviated by Drp1 knockdown. This study revealed that Drp1 was involved in the progression of EC associated with HG, and Drp1 might be a new potential therapeutic target for EC patients with diabetes.
Subject(s)
Carcinoma, Endometrioid , Dynamins/physiology , Endometrial Neoplasms , Epithelial-Mesenchymal Transition , Glucose/pharmacology , Mitochondrial Dynamics , Aged , Blood Glucose/physiology , Carcinoma, Endometrioid/blood , Carcinoma, Endometrioid/genetics , Carcinoma, Endometrioid/pathology , Cohort Studies , Dose-Response Relationship, Drug , Endometrial Neoplasms/blood , Endometrial Neoplasms/genetics , Endometrial Neoplasms/pathology , Epithelial-Mesenchymal Transition/drug effects , Epithelial-Mesenchymal Transition/genetics , Female , Humans , Middle Aged , Mitochondria/drug effects , Mitochondria/metabolism , Mitochondria/pathology , Mitochondrial Dynamics/drug effects , Mitochondrial Dynamics/genetics , Mitochondrial Dynamics/physiology , Tumor Cells, CulturedABSTRACT
OBJECTIVES: Laparoscopic Kasai portoenterostomy (LKPE) has been shown to be a safe and feasible procedure in patients with biliary atresia (BA). The purpose of this study was to investigate the efficacy of modified LKPE (MLKPE) in the treatment of BA. METHODS: Data of 58 BA patients undertaken MLPKE from July 2014 to December 2015 were retrospectively analyzed (group B), and compared with that of 43 BA patients received open Kasai portoenterostomy (OKPE) during the same period (group C). In addition, 195 BA patients who had undergone LKPE during May 2009 to June 2014 were also included (group A). RESULTS: All 296 patients enrolled in this study were non-syndromic type III BA. Compared with group A, group B had shorter operative time (ORT) (P < 0.01) and fewer intraoperative blood transfusion (IOBT) (P < 0.05). The conversion rate and cholangitis rate were also significantly lower in group B than that in group A (P < 0.05). The postoperative oral intake resumed (POOR), any postoperative complications (APOC), clearance of jaundice (CJ), 1-year and 3-year survival rate with native liver (SNL) were not significantly different between group A and group B (P > 0.05). The ORT, IOBT, POOR, APOC, CJ, 1-year and 3-year SNL in group B were much better than that of group C (P < 0.05). CONCLUSION: The MLKPE was associated with good perioperative with ORT, IOBT, POOR, and APOC. The short-term outcomes in MLKPE were no worse than that of OKPE and LKPE. MLKPE can be regarded as a treatment option for BA.
Subject(s)
Biliary Atresia/surgery , Laparoscopy , Portoenterostomy, Hepatic , Algorithms , Anastomosis, Surgical , Female , Humans , Infant , Kaplan-Meier Estimate , Liver/surgery , Male , Postoperative Complications/etiology , Postoperative Period , Retrospective Studies , Treatment OutcomeABSTRACT
BACKGROUND: Limited by difficulties in choosing the appropriate sound, sound therapies could only effectively restrain the development of tinnitus in some patients. Thus, individualised sound therapies are of urgent needs. OBJECTIVE: The purpose of this study was to determine the therapeutic effect of different individualised sound therapies in tinnitus patients complicated with hearing loss of various extents. RESEARCH DESIGN: Participants were assigned to two different personalised sound therapies as counterbalanced by age and gender in this observational study. STUDY SAMPLE: Ninety-two tinnitus patients with hearing loss admitted to our hospital from January 2018 to January 2020 were enrolled and evenly grouped as the observation group and the control group in accordance with the random number table. DATA COLLECTION AND ANALYSES: Tinnitus characteristics of both the groups were determined before treatment. Patients from the observation group received pure tone sound therapy composed of 7 octaves (0.125, 0.25, 0.5, 1, 2, 4 and 8 kHz) based on frequencies determined from their tinnitus characteristics. The control group received pure tone sound therapy composed of 9 one-third octaves based on their tinnitus characteristics. RESULTS: The observation group had better therapeutic effects than that in the control group (91.30% vs 73.91%, P < .05). After 1 week, and 1- to 3-month treatment, patients in the observation group all presented with decreased tinnitus handicap, decreased tinnitus volume and improved sleep quality compared with the control group (P < .05). CONCLUSION: This study found that both personalised sound therapies were effective in tinnitus treatment while 7-octave pure tone adjusted from tinnitus frequencies were more promising in decreasing tinnitus handicap and tinnitus volume.
Subject(s)
Hearing Loss , Tinnitus , Hearing Loss/therapy , Humans , Sleep Quality , Sound , Tinnitus/therapyABSTRACT
A novel copper ion sensing periodic mesoporous organosilica (SCN-PMO) was obtained by incorporating a Schiff base-based fluorescent receptor into the pore walls of mesoporous silica, which exhibited a well ordered mesoporous structure and excellent optical properties demonstrated by various characterization results. SCN-PMO possessed high selectivity and sensitivity towards Cu2+ based on its specific fluorescence response. The detection limit of SCN-PMO could be as low as 6.7 × 10-7 M. Due to protection of the silica network, SCN chromophores in PMOs exhibited higher photostability and the resulting material possessed great repeatability. Additionally, the fluorescence changes of SCN-PMO towards copper ions in vivo (zebrafish) showed that SCN-PMO has potential application as a nanoprobe in biological fields.
Subject(s)
Organosilicon Compounds , Animals , Fluorescence , Porosity , Schiff Bases , ZebrafishABSTRACT
OBJECTIVE: To explore the genetic basis for a girl with febrile convulsion as the main manifestation. METHODS: The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family. RESULTS: The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR. CONCLUSION: 16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.
Subject(s)
Epilepsy , Seizures, Febrile , Child , DNA Copy Number Variations , Female , Humans , Seizures/genetics , Seizures, Febrile/genetics , Exome SequencingABSTRACT
OBJECTIVE: To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS). METHODS: For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes. RESULTS: The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls. CONCLUSION: The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
Subject(s)
Gitelman Syndrome , Biomarkers , Bone and Bones , Child , Collagen Type I/genetics , Genotype , Humans , Osteocalcin/genetics , Peptide Fragments , Solute Carrier Family 12, Member 3ABSTRACT
Miniaturization and integration of electronic components lead to increasing challenges of thermal management. Ultrathin materials with excellent thermal and flexibility are urgently required for portable electronic devices. In this study, the 1-pyrenemethanol (PyM) modified graphene oxide (GO) (GO-PyM) films were prepared in ethanol solution by an evaporation-induced assembly method. The PyM interacts with the GO sheets by hydrogen bonds and π-π interactions. The GO-PyM films were further graphitized at 3000 °C and roll compressed to fabricate the graphene films (GFs), by which, the PyM was transformed into nanosized graphite crystals (PNGCs). The PNGCs filled the voids between the graphene sheets of GFs and linked the graphene sheets, which enhanced the interaction between the graphene sheets, restricted the slippage of the graphene sheets under tension, increased the number of paths for electrons and phonons, and reduced the interface thermal resistance resulted from the existed voids. The resulting GFs showed excellent flexibility of a large elongation up to 14% and an elastic zone up to 3%, a tensile strength of 30.4 MPa, a thermal conductivity of 1316.32 W m-1 K-1, and an electrical conductivity of 6.48 × 105 S m-1. These integrated excellent properties of GFs will promote their applications in thermal management.
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BACKGROUND: Acute kidney injury (AKI) is common and associated with poor outcomes in critically ill neonates. The objective of this study was to study the incidence, risk factors, and clinical outcomes of AKI in neonates receiving non-cardiac surgery. METHODS: We performed a single-center retrospective study between January 2017 and December 2018 of neonates who had received abdominal and thoracic surgical procedures. AKI was defined by the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Patient information, clinical data, and outcomes were collected and analyzed. Logistic regression was used to analyze risk factors of AKI and association between AKI and mortality. RESULTS: Fifty-four (33.8%) of 160 patients developed AKI after surgical procedures. Compared with neonates without AKI, neonates with AKI had higher mortality rate (18.5% VS 5.7%, p = 0.022), lower gestational age (30.5 weeks, interquartile range [IQR] 28-33.5, VS 34.5 weeks, IQR 33-37.5, p = 0.035), higher rates of very low birth weight (33.3% VS 17.0%, p = 0.019), longer duration of mechanical ventilation (0.5 days, IQR 0-1.5, VS 0 days, IQR 0-1, p = 0.043) and higher rates of sepsis (35.2% VS 19.8%, p = 0.034). Risk factors of AKI included gestational age under 32 weeks (OR 4.8, 95% CI 1.8-12.6; p = 0.001), sepsis (OR 4.3, 95% CI 1.7-11.3; p = 0.003), operation time longer than 120 min (OR 2.7, 95% CI 1.1-6.6; p = 0.024), and diagnosis of necrotizing enterocolitis (OR 3.5, 95% CI 1.3-9.1; p = 0.011). AKI after surgery was significantly associated with mortality (OR 4.3, 95% CI 1.1-16.9; p = 0.036). CONCLUSIONS: AKI is common and associated with poor outcomes in surgical neonates. Early recognition and intervention of AKI in these patients are important.