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1.
Dev Med Child Neurol ; 2024 Apr 26.
Article in English | MEDLINE | ID: mdl-38666483

ABSTRACT

AIM: To investigate parenting and mother-child interactions in unaffected siblings of autistic children. METHOD: This cross-sectional study enrolled 274 probands with a DSM-5 diagnosis of autism spectrum disorder (ASD) (87.4% male; mean [SD] age = 11 years 4 months [3 years 2 months]), their unaffected siblings (n = 274, 46.72% male; mean [SD] age = 11 years 3 months [3 years 4 months]), and 296 age-balanced and sex-balanced typically developing children (82.77% male; mean [SD] age = 11 years 3 months [2 years 8 months]). Maternal parenting styles and mother-child interactions were assessed using maternal reporting. RESULTS: Regardless of the child's age, maternal educational level, or presence of attention-deficit/hyperactivity disorder, autistic children received more overprotective and controlling parental behaviour than unaffected children. Correlates for parenting, mother-child interactions, and behavioural problems in the home setting in children with ASD and typically developing children were autistic traits, maternal anxiety and depressive symptoms, and maternal autistic characteristics; those in unaffected siblings were age, autistic traits, maternal educational level, and maternal autistic characteristics. INTERPRETATION: The diagnosis of ASD in a child can significantly influence maternal parenting behaviours, mother-child interactions, and the child's behavioural problems in the home setting. Furthermore, maternal anxiety or depressive symptoms, along with autistic characteristics in both mother and child, might shape parenting practices and exacerbate behavioural difficulties in autistic children.

2.
Pharmacol Biochem Behav ; 236: 173708, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38216065

ABSTRACT

Alcohol withdrawal syndrome (AWS) is a poorly studied phenotype of alcohol use disorder. Understanding the relationship between allelic interactions and AWS-related impulsivity and aggression could have significant implications. This study aimed to investigate the main and interacting effects of ZNF804A and mTOR on impulsivity and aggression during alcohol withdrawal. 446 Chinese Han adult males with alcohol dependence were included in the study. Impulsivity and aggression were assessed, and genomic DNA was genotyped. Single gene analysis showed that ZNF804A rs1344706 (A allele/CC homozygote) and mTOR rs1057079 (C allele/TT homozygote) were strongly associated with AWS-related impulsivity and aggression. In the allelic group, MANOVA revealed a significant gene x gene interaction, suggesting that risk varied systematically depending on both ZNF804A and mTOR alleles. Additionally, a significant interactive effect of ZNF804A rs1344706 and mTOR rs7525957 was found on motor impulsivity and physical aggression, and the ZNF804A rs1344706 gene variant had significant effects on motor impulsivity and physical aggression only in mTOR rs7525957 TT homozygous carriers. The study showed that specific allelic combinations of ZNF804A and mTOR may have protective or risk-enhancing effects on AWS-related impulsivity and aggression.


Subject(s)
Alcoholism , Schizophrenia , Substance Withdrawal Syndrome , Adult , Male , Humans , Alcoholism/genetics , Genetic Predisposition to Disease , Aggression , Schizophrenia/genetics , Polymorphism, Single Nucleotide , Substance Withdrawal Syndrome/genetics , Genotype , Impulsive Behavior , TOR Serine-Threonine Kinases/genetics , Kruppel-Like Transcription Factors/genetics
3.
Aging (Albany NY) ; 16(3): 2077-2089, 2023 Dec 19.
Article in English | MEDLINE | ID: mdl-38126998

ABSTRACT

The beneficial effects of probiotics have been studied in inflammatory bowel disease, nonalcoholic steatohepatitis, and alcoholic liver disease (ALD). Probiotic supplements are safer and more effective; however, their potential mechanisms are unclear. An objective of the current study was to examine the effects of extracellular products of Lactobacillus plantarum on acute alcoholic liver injury. Mice on a standard chow diet were supplemented with Lactobacillus plantarum ST-III culture supernatant (LP-cs) for two weeks and administered alcohol at 6 g/kg body weight by gavage. Alcohol-induced liver injury was assessed by measuring plasma alanine aminotransferase activity levels and triglyceride content determined liver steatosis. Intestinal damage and tight junctions were assessed using histochemical staining. LP-cs significantly inhibited alcohol-induced fat accumulation, inflammation, and apoptosis by inhibiting oxidative stress and endoplasmic reticulum stress. LP-cs significantly inhibited alcohol-induced intestinal injury and endotoxemia. These findings suggest that LP-cs alleviates acute alcohol-induced liver damage by inhibiting oxidative stress and endoplasmic reticulum stress via one mechanism and suppressing alcohol-induced increased intestinal permeability and endotoxemia via another mechanism. LP-cs supplements are a novel strategy for ALD prevention and treatment.


Subject(s)
Endotoxemia , Lactobacillus plantarum , Liver Diseases, Alcoholic , Mice , Animals , Liver , Ethanol/toxicity , Liver Diseases, Alcoholic/prevention & control
4.
J Glob Health ; 13: 04126, 2023 Nov 03.
Article in English | MEDLINE | ID: mdl-37921040

ABSTRACT

Background: Retinal disorders cause substantial visual burden globally. Accurate estimates of the vision loss due to retinal diseases are pivotal to inform optimal eye health care planning and allocation of medical resources. The purpose of this study is to describe the proportion of visual impairment and blindness caused by major retinal diseases in China. Methods: A nationwide register-based study of vitreoretinal disease covering all 31 provinces (51 treating centres) of mainland China. A total of 28 320 adults diagnosed with retinal diseases were included. Participants underwent standardised ocular examinations, which included best-corrected visual acuity (BCVA), dilated-fundus assessments, and optical coherence tomography. Visual impairment and blindness are defined using BCVA according to the World Health Organization (WHO) (visual impairment: <20/63-≥20/400; blindness: <20/400) and the United States (visual impairment: <20/40-≥20/200; blindness: <20/200) definitions. The risk factors of vision loss were explored by logistic regression analyses. Results: Based on the WHO definitions, the proportions for unilateral visual impairment and blindness were 46% and 18%, respectively, whereas those for bilateral visual impairment and blindness were 31% and 3.3%, respectively. Diabetic retinopathy (DR) accounts for the largest proportion of patients with visual impairment (unilateral visual impairment: 32%, bilateral visual impairment: 60%) and blindness (unilateral blindness: 35%; bilateral blindness: 64%). Other retinal diseases that contributed significantly to vision loss included age-related macular degeneration, myopic maculopathy, retinal vein occlusion, and rhegmatogenous retinal detachment and other macular diseases. Women (bilateral vision loss: P = 0.011), aged patients (unilateral vision loss: 45-64 years: P < 0.001, ≥65 years: P < 0.001; bilateral vision loss: 45-64 years: P = 0.003, ≥65 years: P < 0.001 (reference: 18-44 years)) and those from Midwest China (unilateral and bilateral vision loss: both P < 0.001) were more likely to suffer from vision loss. Conclusions: Retinal disorders cause substantial visual burden among patients with retinal diseases in China. DR, the predominant retinal disease, is accountable for the most prevalent visual disabilities. Better control of diabetes and scaled-up screenings are warranted to prevent DR. Specific attention should be paid to women, aged patients, and less developed regions.


Subject(s)
Diabetic Retinopathy , Macular Degeneration , Retinal Diseases , Vision, Low , Visually Impaired Persons , Adult , Humans , Female , Aged , Visual Acuity , Blindness/epidemiology , Blindness/etiology , Vision, Low/etiology , Vision, Low/complications , Vision Disorders/etiology , Vision Disorders/complications , Retinal Diseases/epidemiology , Retinal Diseases/complications , Macular Degeneration/complications , Macular Degeneration/epidemiology , Prevalence
5.
Front Psychiatry ; 14: 1111712, 2023.
Article in English | MEDLINE | ID: mdl-37547216

ABSTRACT

Objective: Alcohol use disorder (AUD) is the second most prevalent mental disorder and might be related to depression. Major vault protein (MVP) is a cytoplasmic protein related to vesicle transport. The present study aimed to investigate the interaction between a genetic variant (MVP rs4788186) and depression in adult male Han Chinese with AUD during withdrawal. Methods: All participants (N = 435) were diagnosed with AUD. Alcohol dependence level was measured using the Michigan Alcoholism Screening Test, and depression was measured using the self-rating depression scale. Genomic DNA was extracted from peripheral blood and genotyped. Results: Hierarchical regression analysis identified an interaction between MVP rs4788186 and alcohol dependence level for depression (ß = -0.17, p < 0.05). Then, a region of significance test was performed to interpret the interaction effect. Re-parameterized regression models revealed that the interaction between MVP rs4788186 and alcohol problem severity fit the strong differential susceptibility model (R2 = 0.08, p < 0.001), suggesting that the AA homozygotes would be more likely subjects with the G allele to experience major depression symptoms. Conclusion: Carriers of the AA homozygote of MVP rs4788186 may be more susceptible to severe alcohol problems and higher levels of depression during withdrawal.

6.
Altern Ther Health Med ; 29(6): 328-332, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37347690

ABSTRACT

Objective: This study investigated the impact of the flap vascular pressurization technique on repairing large-area soft tissue defects in the limbs. Methods: This study employed a randomized controlled trial design to enroll patients with large-area skin defects in the limbs, accompanied by exposed deep tissues such as nerves, blood vessels, bones, and tendons, for various reasons between July 2020 to July 2022. The patients were randomly assigned into two groups using a random number table method. The control group (n = 30) underwent traditional anterior lateral thigh flap repair, while the experimental group (n = 30) underwent flap repair using the vascular pressurization technique. Clinical indicators, flap survival, scar formation, and satisfaction were compared between the two groups. Results: There were no significant differences in operation time, intraoperative blood loss, and length of hospital stay between the two groups (P > .05). The flap survival rate in the experimental group (90.00%, 27/30) was significantly higher than that in the control group (66.67%, 20/30) (P < .05). The Manchester Scar Scale (MSS) scores in the experimental group were significantly higher than those in the control group (P < .05). The satisfaction rate in the experimental group (93.33%, 28/30) was significantly higher than that in the control group (73.33%, 22/30) (P < .05). Conclusion: The use of the flap vascular pressurization technique for the repair of soft tissue defects in the limbs can significantly increase flap survival rate, improve scar formation, and enhance patient satisfaction, thereby demonstrating good clinical value. The flap vascular pressurization technique can be promoted as a reliable method for repairing large-area skin defects in the limbs, thereby contributing to the advancement of specialized fields.


Subject(s)
Plastic Surgery Procedures , Soft Tissue Injuries , Humans , Cicatrix/surgery , Soft Tissue Injuries/surgery , Treatment Outcome , Skin Transplantation
7.
BMC Ophthalmol ; 23(1): 286, 2023 Jun 23.
Article in English | MEDLINE | ID: mdl-37353739

ABSTRACT

BACKGROUND: The pathological basis for many retinal diseases, retinal ischemia is also one of the most common causes of visual impairment. Numerous ocular diseases have been linked to Endoplasmic reticulum(ER)stress. However, there is still no clear understanding of the relationship between ER stress and Müller glial cells during retinal ischemia and hypoxia. This study examined the effects of ER stress on autophagy and apoptosis-related proteins, as well as the microtubule-related protein tau in rMC-1 cells. METHODS: rMC-1 cells were cultured in vitro. RT-PCR、immunofluorescence and Western blotting revealed the expression levels of associated mRNAs and proteins, and the CCK-8 and flow cytometry assays detected cell apoptosis. RESULTS: The results showed that under OGD(Oxygen-glucose deprivation) conditions, the number of rMC-1 cells was decreased, the PERK/eIF2a pathway was activated, and the expressions of p-tau, LC3、Beclin1 and Caspase-12 proteins were increased. After the PERK knockout, the expression of the above proteins was decreased, and the apoptosis was also decreased. CONCLUSION: According to the findings of this study, specific downregulation of PERK expression had an anti-apoptotic effect on OGD-conditioned rMC-1 cells. There is a possibility that this is one of the mechanisms of MG cell apoptosis during retinal ischemic injury.


Subject(s)
Ependymoglial Cells , Signal Transduction , Rats , Animals , Rats, Sprague-Dawley , Apoptosis , Endoplasmic Reticulum Stress
8.
Pak J Pharm Sci ; 36(1): 99-102, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36967502

ABSTRACT

Using Gallic acid as raw material, 1-(substituted aromatic acyl)-4-(3,4,5-trihydroxybenzoyl) thiosemicarbazone was prepared by a two-step reaction and a series of brand-new gallic acid amide derivatives that contained 1,3,4-thiadiazole were synthesized by cyclic reaction. The newly prepared compounds' Vibrio harveyi inhibition activities were evaluated. The results indicated that all compounds showed different degree of inhibitory activity on Vibrio harveyi. Among them, the best inhibition effect was shown by compound 5b and its minimum inhibitory concentration (MIC) was 0.0313mg/mL.


Subject(s)
Gallic Acid , Vibrio , Gallic Acid/pharmacology , Amides/pharmacology
9.
J Formos Med Assoc ; 122(7): 574-583, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36732136

ABSTRACT

BACKGROUND/PURPOSE: The diagnosis of autism spectrum disorder (ASD), involving multiple components of clinical assessments, is challenging. The Autism Diagnostic Observation Schedule-Generic (ADOS-G), one of the standardized and validated instruments for ASD diagnostic evaluation, has been widely used in many countries. With the preparation of the Mandarin version of the ADOS-G (Mandarin-ADOS-G), this study aims to examine its psychometric properties, including reliability and validity. METHODS: The sample included 554 individuals clinically diagnosed with ASD (477 males, 86.1%) and 50 typically developing (TD) individuals (29 males, 58.0%) who were assessed with different modules of the Mandarin-ADOS-G between 4.1 and 34.0 years old with a mean age of 13.0 years (Module 1, n = 40; Module 2, n = 46; Module 3, n = 275; Module 4, n = 243). We evaluated the inter-rater reliability, test-retest reliability, internal consistency, and concurrent validity with the Chinese Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) caregiver-report and self-report forms. The discriminative validity of Mandarin-ADOS-G was also examined. RESULTS: The Mandarin-ADOS-G demonstrated good inter-rater reliability (agreement of ADOS classification 0.91), good test-retest reliability (intraclass correlations 0.55-0.73), and low to high good internal consistency (Cronbach's alpha 0.27-0.86). The concurrent validity showed significant correlations with ADI-R (Pearson correlations 0.22-0.37) and the SRS caregiver-report form (Pearson correlations 0.15-0.23). Moreover, all Mandarin-ADOS-G domains successfully differentiated autistic individuals from TD individuals (all p-values <0.001). CONCLUSION: The Mandarin-ADOS-G is a reliable and valid instrument for assisting the diagnosis of ASD in the Mandarin-speaking population.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Male , Humans , Adolescent , Child, Preschool , Child , Young Adult , Adult , Autistic Disorder/diagnosis , Psychometrics , Autism Spectrum Disorder/diagnosis , Reproducibility of Results , Self Report
10.
J Formos Med Assoc ; 122(7): 621-628, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36344388

ABSTRACT

BACKGROUND: Although the neural mechanisms of the theory of mind (ToM) in children with autism spectrum disorder (ASD) through fMRI using the social animation task have been investigated, little is known in adults with ASD. Therefore, the present study aimed to explore the neural substrates of ToM in adults with ASD. Moreover, we aimed to elucidate the relationship between brain activation and behavior of social interaction in adults with ASD. METHODS: Twenty-four healthy controls and 24 adults with the clinical diagnosis of ASD were recruited. Participants were asked to complete the social animation task in functional magnetic resonance imaging. The imaging analyses of within (whole brain analysis) and between (5 regions of interest) group comparisons were conducted to explore the process of ToM. The correlation analyses were further conducted to explore the relationship between neural activations associated with ToM and social interaction abilities assessed by ADI-R. RESULTS: The ASD group showed greater activation in the left precuneus and right superior temporal gyrus (STG) than the control group. For correlation analyses, greater right STG activation was positively correlated with autistic symptoms assessed by the ADI-R in the ASD group. CONCLUSION: ASD adults might spend a lot of effort on identification processing, thereby influencing social communication skills. Also, the neural deficits of ToM in ASD adults might be associated with their social interaction difficulties.


Subject(s)
Autism Spectrum Disorder , Theory of Mind , Child , Humans , Adult , Autism Spectrum Disorder/diagnostic imaging , Magnetic Resonance Imaging , Brain/diagnostic imaging
11.
J Autism Dev Disord ; 53(7): 2555-2569, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35420295

ABSTRACT

This study followed up ADHD/autistic symptoms and attentional performance in children/adolescents with ASD and typically developing ones (TD) over 5-7 years. The participants were stratified by age at baseline into child (< 12 years) and adolescent (12-19 years) groups. ADHD symptoms, especially hyperactivity, and attentional functions significantly improved during follow-up, more in children than in adolescents, in both ASD and TD. Significantly more omission errors and perseverations were noted in ASD than TD through the follow-up. Children with ASD had more improvement in reaction time while adolescents with ASD had less improvement in commission errors and detectability than TD. No correlation of attentional functions and ADHD symptoms in ASD implied different neural mechanisms of ADHD symptoms between ASD and ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Autism Spectrum Disorder , Autistic Disorder , Child Development Disorders, Pervasive , Humans , Child , Adolescent , Autism Spectrum Disorder/diagnosis , Attention Deficit Disorder with Hyperactivity/diagnosis , Autistic Disorder/diagnosis , Attention , Child Development Disorders, Pervasive/diagnosis
13.
Front Biosci (Landmark Ed) ; 27(11): 309, 2022 11 17.
Article in English | MEDLINE | ID: mdl-36472110

ABSTRACT

BACKGROUND AND AIMS: Nicotine dependence (ND)-induced anxiety might be modulated by genetic polymorphisms. The gene-by-environment interaction can be fitted into the diathesis-stress and differential susceptibility models. Nevertheless, knowledge of the interaction between adiponectin (ADPN) polymorphisms and ND on the incident mental disorder is currently scarce. This study aims to understand the role of ADPN rs266729 on anxiety in patients with ND while elucidating the psychology model and the various reactions across genotypes. METHODS: We included 315 Chinese males with confirmed ND, measured using the Fagerstrom test for nicotine dependence (FTND). Anxiety was assessed using the Self-rating Anxiety Scale. Genomic DNA was extracted and genotyped from peripheral blood. Hierarchical regression models were used to test the interactions. RESULTS: There was a significant interaction between ADPN rs266729 and ND (ß = -0.19, p < 0.05). The CC homozygote was more likely to be affected by ND-induced anxiety (ß = 0.14, t = 4.43, p < 0.01). Re-parameterized regression models revealed that the interaction between ADPN rs266729 and ND could fit the strong differential susceptibility model (R2 = 0.05, p < 0.001). CONCLUSIONS: ADPN rs266729 was correlated with susceptibility to anxiety symptoms among male adults with ND and could fit the differential susceptibility model. The CC homozygote of rs266729 was a plasticity factor that increased anxiety symptoms in individuals with ND.


Subject(s)
Adiponectin , Tobacco Use Disorder , Adult , Humans , Male , Adiponectin/genetics , Tobacco Use Disorder/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Anxiety/genetics
14.
J Ophthalmol ; 2022: 6026464, 2022.
Article in English | MEDLINE | ID: mdl-36211598

ABSTRACT

Purpose: To investigate the effect of 3-methyladenine (3-MA) and starvation on the expression of matrix metalloproteinase (MMP-2) in patients with primary open-angle glaucoma. Methods: Primary TM cells were cultured and divided into three groups. The control group was treated with a normal medium, the 3-MA group was stimulated with 3-MA, and the starvation group received nutrient depletion by replacing the normal media with Earle's balanced salt solution. Cellular mRNA and protein were measured at different 3-MA concentrations and starvation time periods. The level of autophagy was accessed by monodansylcadaverine fluorescent staining and expression of specific autophagy-related genes, light chain 3 (LC3), and Beclin1. The effects of 3-MA and starvation on cell proliferation were determined with a 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide assay kit. The mRNA and protein expression of LC3-II, Beclin1, and MMP-2 were measured by reverse transcription-polymerase chain reaction and western blot, respectively. Results: Compared to the control group, starvation significantly upregulated LC3-II and Beclin1 in TM cells after 3 h of stimulation, which peaked at 6 h and 9 h, respectively. Increased MDC-labeled cells were also observed. Starvation downregulated the expression of MMP-2. On the contrary, 3-MA suppressed the activation of autophagy, as shown by the marked downregulation of LC3-II and Beclin1. The expressions of MMP-2 were higher in the 3-MA group compared to the control group, reaching a peak at a concentration of 5 mM. Conclusion: Autophagy may be involved in the pathogenesis of POAG via regulating the expression of MMP-2 and, subsequently, the deposition of the extracellular matrix.

15.
Front Neurosci ; 16: 976358, 2022.
Article in English | MEDLINE | ID: mdl-36188464

ABSTRACT

Background: Long-term alcohol exposure is associated with oxidative stress, endoplasmic reticulum (ER) stress, and neuroinflammation, which may impair cognitive function. Probiotics supplements can significantly improve cognitive function in neurodegenerative diseases such as Alzheimer's disease. Nevertheless, the effect of Lactobacillus plantarum ST-III culture supernatant (LP-cs) on alcohol-induced cognitive dysfunction remains unclear. Methods: A mouse model of cognitive dysfunction was established by intraperitoneal injection of alcohol (2 g/kg body weight) for 28 days. Mice were pre-treated with LP-cs, and cognitive function was evaluated using the Morris water maze test. Hippocampal tissues were collected for biochemical and molecular analysis. Results: LP-cs significantly ameliorated alcohol-induced decline in learning and memory function and hippocampal morphology changes, neuronal apoptosis, and synaptic dysfunction. A mechanistic study showed that alcohol activated protein kinase R-like endoplasmic reticulum kinase (PERK) signaling and suppressed brain derived neurotrophic factor (BDNF) levels via ER stress in the hippocampus, which LP-cs reversed. Alcohol activated oxidative stress and inflammation responses in the hippocampus, which LP-cs reversed. Conclusion: LP-cs significantly ameliorated alcohol-induced cognitive dysfunction and cellular stress. LP-cs might serve as an effective treatment for alcohol-induced cognitive dysfunction.

16.
CNS Neurosci Ther ; 28(12): 2141-2147, 2022 12.
Article in English | MEDLINE | ID: mdl-36168907

ABSTRACT

OBJECTIVE: The study aimed to investigate the relationship between cerebrospinal fluid (CSF) metal ions and anxiety, depression, and insomnia among cigarette smokers. METHODS: We measured CSF levels of various metal ions from 178 Chinese male subjects. Apart from sociodemographic and clinical characteristics data, the Fagerstrom Test for Nicotine Dependence (FTND), Beck Depression Inventory (BDI), Self-Rating Anxiety Scale (SAS), and Pittsburgh Sleep Quality Index (PSQI) were applied. RESULTS: BDI and PSQI scores (all p < 0.001) were significantly higher in active smokers than nonsmokers. Active smokers have significantly higher CSF levels of magnesium, zinc, iron, lead, lithium, and aluminum (all p ≤ 0.002). Some metal ions, including zinc, iron, lead, and aluminum, were found to have a significant correlation with BDI scores, whereas metal ions, including zinc and lead, were found to have a significant correlation with PSQI scores in the general group. More interesting, mediation analysis showed that aluminum mediated the relationship between smoking and depression. CONCLUSIONS: Cigarette smoking was indeed associated with depression and insomnia. Active smokers had significantly higher CSF levels of magnesium, zinc, iron, lead, lithium, and aluminum. Furthermore, CSF aluminum played a mediating role in the relationship between smoking and depression, which further confirmed its neurotoxicity.


Subject(s)
Sleep Initiation and Maintenance Disorders , Tobacco Products , Male , Humans , Smokers , Depression , Aluminum , Magnesium , Lithium , Anxiety , Ions , Zinc , Iron
17.
Eur J Med Res ; 27(1): 77, 2022 May 28.
Article in English | MEDLINE | ID: mdl-35643583

ABSTRACT

BACKGROUND: Extracorporeal membrane oxygenation (ECMO) to support cardiopulmonary resuscitation (CPR), also known as extracorporeal cardiopulmonary resuscitation (ECPR), has shown encouraging results in refractory cardiac arrest (RCA) resuscitation. However, its therapeutic benefits are linked to instant and uninterrupted chest compression (CC), besides early implementation. Mechanical CC can overcome the shortcomings of conventional manual CC, including fatigue and labor consumption, and ensure adequate blood perfusion. A strategy sequentially linking mechanical CPR with ECPR may earn extra favorable outcomes. CASE SERIES: We present a four-case series with ages ranging from 8 to 94 years who presented with prolonged absences of return of spontaneous circulation (ROSC) after CA associated with acute fulminant myocarditis (AFM) and myocardial infarction (MI). All the cases received VA-ECMO (ROTAFLOW, Maquet) assisted ECPR, with intra-aortic balloon pump (IABP) or continuous renal replacement treatment (CRRT) appended if persistently low mean blood pressure (MAP) or ischemic kidney injury occurred. All patients have successfully weaned off ECMO and the assistant life support devices with complete neurological recovery. Three patients were discharged, except the 94-year-old patient who died of irreversible sepsis 20 days after ECMO weaning-off. These encouraging results will hopefully lead to more consideration of this lifesaving therapy model that sequentially integrates mechanical CPR with ECPR to rescue RCA related to reversible cardiac causes. CONCLUSIONS: This successful case series should lead to more consideration of an integrated lifesaving strategy sequentially linking mechanical cardiopulmonary resuscitation with ECPR, as an extra favorable prognosis of refractory cardiac arrest related to this approach can be achieved.


Subject(s)
Cardiopulmonary Resuscitation , Extracorporeal Membrane Oxygenation , Heart Arrest , Myocardial Infarction , Adolescent , Adult , Aged , Aged, 80 and over , Cardiopulmonary Resuscitation/methods , Child , Extracorporeal Membrane Oxygenation/methods , Heart Arrest/etiology , Heart Arrest/therapy , Humans , Middle Aged , Prognosis , Young Adult
18.
Sci Rep ; 12(1): 9914, 2022 06 15.
Article in English | MEDLINE | ID: mdl-35705619

ABSTRACT

Mutations in the FERM domain containing 7 (FRMD7) gene have been proven to be responsible for infantile nystagmus (IN). The purpose of this study is to investigate FRMD7 gene mutations in patients with IN, and to evaluate the nystagmus intensity among patients with and without FRMD7 mutations. The affected males were subdivided into three groups according to whether or not having FRMD7 mutations and the types of mutations. Fifty-two mutations were detected in FRMD7 in 56 pedigrees and 34 sporadic patients with IN, including 28 novel and 24 previous reported mutations. The novel identified mutations further expand the spectrum of FRMD7 mutations. The parameters of nystagmus intensity and the patients' best corrected visual acuity were not statistically different among the patients with and without identified FRMD7 mutations, and also not different among patients with different mutant types. The FERM-C domain, whose amino acids are encoded by exons 7, 8 and 9, could be the harbor region for most mutations. Loss-of-function is suggested to be the common molecular mechanism for the X-linked infantile nystagmus.


Subject(s)
Cytoskeletal Proteins , Genetic Diseases, X-Linked , Membrane Proteins , Nystagmus, Congenital , Cytoskeletal Proteins/genetics , DNA Mutational Analysis , Genetic Diseases, X-Linked/genetics , Humans , Male , Membrane Proteins/genetics , Mutation , Nystagmus, Congenital/genetics , Pedigree
19.
Mol Autism ; 13(1): 21, 2022 05 18.
Article in English | MEDLINE | ID: mdl-35585645

ABSTRACT

BACKGROUND: Neuroimage literature of autism spectrum disorder (ASD) has a moderate-to-high risk of bias, partially because those combined with intellectual impairment (II) and/or minimally verbal (MV) status are generally ignored. We aimed to provide more comprehensive insights into white matter alterations of ASD, inclusive of individuals with II (ASD-II-Only) or MV expression (ASD-MV). METHODS: Sixty-five participants with ASD (ASD-Whole; 16.6 ± 5.9 years; comprising 34 intellectually able youth, ASD-IA, and 31 intellectually impaired youth, ASD-II, including 24 ASD-II-Only plus 7 ASD-MV) and 38 demographic-matched typically developing controls (TDC; 17.3 ± 5.6 years) were scanned in accelerated diffusion-weighted MRI. Fixel-based analysis was undertaken to investigate the categorical differences in fiber density (FD), fiber cross section (FC), and a combined index (FDC), and brain symptom/cognition associations. RESULTS: ASD-Whole had reduced FD in the anterior and posterior corpus callosum and left cerebellum Crus I, and smaller FDC in right cerebellum Crus II, compared to TDC. ASD-IA, relative to TDC, had no significant discrepancies, while ASD-II showed almost identical alterations to those from ASD-Whole vs. TDC. ASD-II-Only had greater FD/FDC in the isthmus splenium of callosum than ASD-MV. Autistic severity negatively correlated with FC in right Crus I. Nonverbal full-scale IQ positively correlated with FC/FDC in cerebellum VI. FD/FDC of the right dorsolateral prefrontal cortex showed a diagnosis-by-executive function interaction. LIMITATIONS: We could not preclude the potential effects of age and sex from the ASD cohort, although statistical tests suggested that these factors were not influential. Our results could be confounded by variable psychiatric comorbidities and psychotropic medication uses in our ASD participants recruited from outpatient clinics, which is nevertheless closer to a real-world presentation of ASD. The outcomes related to ASD-MV were considered preliminaries due to the small sample size within this subgroup. Finally, our study design did not include intellectual impairment-only participants without ASD to disentangle the mixture of autistic and intellectual symptoms. CONCLUSIONS: ASD-associated white matter alterations appear driven by individuals with II and potentially further by MV. Results suggest that changes in the corpus callosum and cerebellum are key for psychopathology and cognition associated with ASD. Our work highlights an essential to include understudied subpopulations on the spectrum in research.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , White Matter , Adolescent , Autism Spectrum Disorder/diagnostic imaging , Autism Spectrum Disorder/pathology , Autistic Disorder/diagnostic imaging , Autistic Disorder/pathology , Brain/diagnostic imaging , Brain/pathology , Corpus Callosum/diagnostic imaging , Diffusion Magnetic Resonance Imaging/methods , Humans , White Matter/diagnostic imaging , White Matter/pathology
20.
Int J Ophthalmol ; 15(4): 661-665, 2022.
Article in English | MEDLINE | ID: mdl-35450186

ABSTRACT

AIM: To evaluate the surgical outcome of medial rectus (MR) recession with Y-splitting procedure in treatment of esotropia with convergence excess. METHODS: Medical records were retrospectively reviewed for those patients who underwent surgical treatment for their convergence excess esotropia (CEET) between January 2018 and December 2020. Refractive error was examined by the equipment of the VS100 (Welch Allyn). The surgical approach was bilateral MR recession with Y-splitting. The amount of recession was calculated according to the deviation angle at distance. Ocular movement and ocular alignment at distance and near were evaluated pre- and post-operatively. Binocular sensory status was evaluated by the Bagolini striated glasses at near and distance, and by stereoacuity assessment at near using the Titmus test. RESULTS: Six patients with CEET were included in this study. Four of them were hyperopia and two of them were myopia. A mean of eso-deviation angle at distance had been changed from 27.3±13.02 prism diopters (PD) preoperatively to 1.83±1.60 PD postoperatively (P<0.05), while a mean of eso-deviation angle at near had been changed from 50.00±20.74 PD preoperatively to 6.83±0.98 PD postoperatively (P<0.05). Patients had obtained binocular vision postoperatively. CONCLUSION: The surgical approach of Y-splitting MR and recession is effective in treatment of CEET.

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