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1.
Artigo em Inglês | MEDLINE | ID: mdl-33193809

RESUMO

Background: Despite the importance of restricted and repetitive behaviors (RRBs) in diagnosing autism spectrum disorder (ASD), specific RRBs that distinguish children with ASD who are receiving services from those who have ASD but are unidentified and untreated until school age remain unclear. This study examined the differences in the severity and variability of RRBs among three groups (ASD with service experiences [ASDws], ASD without service experiences [ASDwos], and No ASD) and investigated specific RRBs predicting group membership. Method: A total of 296 children who screened positive for ASD completed confirmative diagnostic assessments. The severity and variability scores of RRBs were obtained using 16 items of the Autism Diagnostic Interview-Revised. Results: Both ASD groups had higher proportions of children with severe RRBs for the majority of RRBs and exhibited a greater number of RRBs than the No ASD group. However, discrepancies between the ASDwos and the No ASD groups were not as apparent as those between the ASDws and the No ASD groups. RRBs characterized by a repetitive motor/physical component and unusual sensory responses differentiated the ASDws group from the ASDwos group. Conversely, RRBs characterized by rigid adherence to routine, and ritualistic behavior increased the odds of membership in the ASDwos group over the No ASD group. Conclusions: Our results may improve the ability of clinicians and parents to detect ASD in the community by observing specific RRBs, especially in cognitively intact school-aged children who show significant compulsive/ritualistic behaviors and rigidity to routines/sameness RRBs, even in the absence of multiple RRBs or severe repetitive sensorimotor behaviors.

2.
Yonsei Med J ; 61(11): 909-922, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33107234

RESUMO

Through this meta-analysis, we sought to examine the prevalence of, risks for, and factors associated with bullying involvement (victimization, perpetration, perpetration-victimization) among students with autism spectrum disorder (ASD). Additionally, we attempted to examine sources of variance in the prevalence and effect sizes of bullying in students with ASD across studies. Systematic database and literature review identified 34 relevant studies (31 for Western countries, three for Eastern countries). Pooled prevalence estimates for victimization, perpetration, and perpetration-victimization in general were 67%, 29%, and 14%, respectively. The risk of victimization in students with ASD was significantly higher than that in typically developing students and students with other disabilities. Further, deficits in social interaction and communication, externalizing symptoms, internalizing symptoms, and integrated inclusive school settings were related to higher victimization, and externalizing symptoms were related to higher perpetration. Finally, moderation analyses revealed significant variations in the pooled prevalences thereof depending on culture, age, school settings, and methodological quality and in the pooled effect sizes according to publication year and methodological quality. Our results highlight needs for bullying intervention for students with ASD, especially those who are younger, are in an inclusive school setting, and have higher social difficulties and externalizing/internalizing symptoms; for intensive research of bullying experiences among students with ASD in Eastern countries; and for efforts to improve the methodological quality of such research.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Bullying/estatística & dados numéricos , Vítimas de Crime/estatística & dados numéricos , Comparação Transcultural , Estudantes/psicologia , Adolescente , Transtorno do Espectro Autista/etnologia , Transtorno do Espectro Autista/psicologia , Bullying/psicologia , Criança , Pré-Escolar , Vítimas de Crime/psicologia , Feminino , Humanos , Relações Interpessoais , Masculino , Prevalência , Estudantes/estatística & dados numéricos , Adulto Jovem
4.
JMIR Med Inform ; 8(7): e14500, 2020 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-32673253

RESUMO

BACKGROUND: Suicide is one of the leading causes of death among young and middle-aged people. However, little is understood about the behaviors leading up to actual suicide attempts and whether these behaviors are specific to the nature of suicide attempts. OBJECTIVE: The goal of this study was to examine the clusters of behaviors antecedent to suicide attempts to determine if they could be used to assess the potential lethality of the attempt. To accomplish this goal, we developed a deep learning model using the relationships among behaviors antecedent to suicide attempts and the attempts themselves. METHODS: This study used data from the Korea National Suicide Survey. We identified 1112 individuals who attempted suicide and completed a psychiatric evaluation in the emergency room. The 15-item Beck Suicide Intent Scale (SIS) was used for assessing antecedent behaviors, and the medical outcomes of the suicide attempts were measured by assessing lethality with the Columbia Suicide Severity Rating Scale (C-SSRS; lethal suicide attempt >3 and nonlethal attempt ≤3). RESULTS: Using scores from the SIS, individuals who had lethal and nonlethal attempts comprised two different network nodes with the edges representing the relationships among nodes. Among the antecedent behaviors, the conception of a method's lethality predicted suicidal behaviors with severe medical outcomes. The vectorized relationship values among the elements of antecedent behaviors in our deep learning model (E-GONet) increased performances, such as F1 and area under the precision-recall gain curve (AUPRG), for identifying lethal attempts (up to 3% for F1 and 32% for AUPRG), as compared with other models (mean F1: 0.81 for E-GONet, 0.78 for linear regression, and 0.80 for random forest; mean AUPRG: 0.73 for E-GONet, 0.41 for linear regression, and 0.69 for random forest). CONCLUSIONS: The relationships among behaviors antecedent to suicide attempts can be used to understand the suicidal intent of individuals and help identify the lethality of potential suicide attempts. Such a model may be useful in prioritizing cases for preventive intervention.

5.
Mol Autism ; 11(1): 35, 2020 05 14.
Artigo em Inglês | MEDLINE | ID: mdl-32410700

RESUMO

BACKGROUNDS: Whether there is a true increase in autism spectrum disorder (ASD) frequency or not remains unclear. Additionally, the rates of co-existing neurodevelopmental disorders (NDD) in a total population sample has not been fully examined before. Therefore, using a total population sample in Japan, we aimed to estimate the prevalence and cumulative incidence of autism spectrum disorder (ASD) annually, to determine whether there is a true increase in ASD prevalence by estimating the cumulative incidence of ASD annually, and to examine the rates of co-existing neurodevelopmental disorders (NDD). METHOD: In this cross-sectional sequential design study, all 5-year-old children in the catchment area underwent the screening annually from the year 2013-2016. Screen-positive children were invited to participate in a comprehensive assessment, including child and parent interview, behavioral observation, and cognitive and motor function testing. All cases were reviewed by a multidisciplinary research team. RESULTS: Caregivers of 3954 children returned the screening, among which 559 children underwent the assessment with 87 children receiving an ASD diagnosis. Adjusted ASD prevalence was 3.22% (95% confidence interval (CI) 2.66-3.76%). The male to female ratio of the crude prevalence was 2.2:1. The cumulative incidence of ASD up to 5 years of age for the total study years was 1.31% (95% CI 1.00-1.62%). A generalized linear model revealed no significant linear trends in 5-year cumulative incidence over the study years. Only 11.5% of children had ASD alone; the remaining 88.5% were found to have at least one co-existing NDD. LIMITATIONS: Modest sample size for a total population study. CONCLUSIONS: Our findings demonstrate the stability of the 5-year cumulative incidence of ASD, implying no true rise in ASD incident cases over the 4-year study period in the study catchment area. High rates of co-existing NDDs reflect the importance of investigating broad developmental challenges in children with ASD.

6.
Artigo em Inglês | MEDLINE | ID: mdl-32314393

RESUMO

BACKGROUND: Concerns have been raised that scores on standard measures of autism spectrum disorder (ASD) symptoms may differ as a function of sex. However, these findings are hindered by small female samples studied thus far. The current study evaluated if, after accounting for age, IQ, and language level, sex affects ASD severity estimates from diagnostic measures among children with ASD. METHODS: Data were obtained from eight sources comprising 27 sites. Linear mixed-effects models, including a random effect for site, were fit for 10 outcomes (Autism Diagnostic Observation Schedule [ADOS] domain-level calibrated severity scores, Autism Diagnostic Interview-Revised [ADI-R] raw scores by age-based algorithm, and raw scores from the two indices on the Social Responsiveness Scale [SRS]). Sex was added to the models after controlling for age, NVIQ, and an indicator for language level. RESULTS: Sex significantly improved model fit for half of the outcomes, but least square mean differences were generally negligible (effect sizes [ES] < 0.20), increasing to small to moderate in adolescence (ES < 0.40). Boys received more severe RRB scores than girls on both the ADOS and ADI-R (age 4 + algorithm), and girls received more severe scores than boys on both SRS indices, which emerged in adolescence. CONCLUSIONS: This study combined several available databases to create the largest sample of girls with ASD diagnoses. We found minimal differences due to sex beyond other known influences on ASD severity indicators. This may suggest that, among children who ultimately receive a clinical ASD diagnosis, severity estimates do not systematically differ to such an extent that sex-specific scoring procedures would be necessary. However, given the limitations inherent in clinically ascertained samples, future research must address questions about systematic sex differences among children or adults who do not receive clinical diagnoses of ASD. Moreover, while the current study helps resolve questions about widely used diagnostic instruments, we could not address sex differences in phenotypic aspects outside of these scores.

7.
Anim Biotechnol ; : 1-7, 2020 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-32049597

RESUMO

A synthetic progestin altrenogest (ALT) is used to synchronize the estrus cycle of swine for fixed-time artificial insemination (AI) and has been shown to improve follicular development and reproductive performances in post-weaning sows. However, the effects of ALT treatment on reproductive tracts, including the ovaries, oviducts and uterus have not been yet clarified. In this study, we examined the expression of genes involved in endometrial responses in ALT-treated sows. ALT did not significantly alter luteinizing hormone (LH), follicle-stimulating hormone (FSH) and estradiol profiles in blood compared to untreated control. Quantitative RT-polymerase chain reaction (qRT-PCR) analysis showed that the expression of genes encoding galectin-3 (LGALS3) and fibroblast growth factor 9 (FGF9) was upregulated in the reproductive tracts of ALT-treated sows, including the ovaries, oviducts and uteri. Moreover, ALT treatment induced the expression of FGF9 and galectin-3 proteins, and promoted their localization to the luminal epithelium of the oviducts and uterus. Our findings suggest that the enhancement of reproductive performance shown by ALT-treated sows is associated with the upregulation of galectin-3 and FGF9, which are essential for endometrial receptivity, successful implantation, and pregnancy.

8.
Materials (Basel) ; 12(18)2019 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-31546895

RESUMO

Among the composite manufacturing methods, injection molding has higher time efficiency and improved processability. The production of composites via injection molding requires a pre-process to mix and pelletize the matrix polymer and reinforcement material. Herein, we studied the effect of extrusion process conditions for making pellets on the mechanical and thermal properties provided by injection molding. Polyamide 6 (PA6) was used as the base, and composites were produced by blending carbon fibers and Al2O3 as the filler. To determine the optimum blending ratio, the mechanical properties, thermal conductivity, and melt flow index (MI) were measured at various blending ratios. With this optimum blending ratio, pellets were produced by changing the temperature and RPM conditions, which are major process variables during compounding. Samples were fabricated by applying the same injection conditions, and the mechanical strength, MI values, and thermal properties were measured. The mechanical strength increased slightly as the temperature and RPM increased, and the MI and thermal conductivity also increased. The results of this study can be used as a basis for specifying the conditions of the mixing and compounding process such that the desired mechanical and thermal properties are obtained.

9.
Science ; 362(6420)2018 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-30545852

RESUMO

Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Casting noncoding variation in the context of a de novo risk score across multiple annotation categories, however, did demonstrate association with mutations localized to promoter regions. We found that the strongest driver of this promoter signal emanates from evolutionarily conserved transcription factor binding sites distal to the transcription start site. These data suggest that de novo mutations in promoter regions, characterized by evolutionary and functional signatures, contribute to ASD.


Assuntos
Transtorno do Espectro Autista/genética , Mutação , Regiões Promotoras Genéticas/genética , Sítios de Ligação/genética , Sequência Conservada , Análise Mutacional de DNA , Loci Gênicos , Variação Genética , Humanos , Linhagem , Risco , Fatores de Transcrição/metabolismo
10.
Food Sci Biotechnol ; 27(3): 829-835, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30263808

RESUMO

The objective of this study was to examine the effects of glutamine on heat-shock protein beta 1 (HSPB1) expression in bovine embryonic fibroblast cells during myogenesis. First, to elucidate the role of glutamine on HSPB1 expression during myogenesis, we treated with glutamine in myogenic lineage determinant (MyoD) over-expressed bovine embryonic fibroblast cells (BEFS-MyoD cells). Second, knockdown of HSPB1 using small interference RNA was performed to evaluate whether muscle development by glutamine is dependent on HSPB1 in BEFS-MyoD cells. As a result, glutamine promoted the mRNA level of HSPB1, Myogenin, Desmin, and mTOR as well as myotube formation, and protein synthesis (p < 0.05). The inhibition of HSPB1 expression during myogenesis has shown to repress the expression of myogenic marker genes (MyoD, Myogenin, Desmin) (p < 0.01), formation of myotubes and protein synthesis (p < 0.05). According to the results, it is concluded that glutamine regulates HSPB1 expression during myogenesis.

11.
Res Dev Disabil ; 80: 1-12, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29879612

RESUMO

BACKGROUND: Existing reviews of screening tools for Autism Spectrum Disorder (ASD) focus on young children, and not all screening tools have been examined against validated diagnostic procedures. AIMS: To examine the validity of screening tools for ASD in non-young children and adults to provide clinical recommendations about the use of these tools in a variety of clinical settings. METHODS AND PROCEDURES: Electronic databases, including MEDLINE, EMBASE, PsychINFO, Cochrane Library and CINAHL, were searched through March 2017. Studies examining the validity of ASD screening tools against the Autism Diagnostic Observation Schedule and/or the Autism Diagnostic Interview - Revised in non-young children (age 4 or above) and adults were included. Three authors independently reviewed each article for data extraction and quality assessment. OUTCOMES AND RESULTS: 14 studies met the inclusion criteria, of which 11 studies were with children (4-18 years of age) and 3 studies included adults only (19 years of age and above). Included studies were conducted in a general population/low-risk sample (N = 3) and a clinically referred/high-risk sample (N = 11). In total 11 tools were included. CONCLUSIONS AND IMPLICATIONS: Only three screening tools (the Autism-Spectrum Quotient, the Social Communication Questionnaire, and the Social Responsiveness Scale) were examined in more than 2 studies. These tools may assist in differentiating ASD from other neurodevelopmental and psychiatric disorders or typically developed children. In young adult populations, the paucity of the existing research in this group limits definitive conclusion and recommendations.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Programas de Rastreamento , Reprodutibilidade dos Testes , Adulto Jovem
12.
Mech Ageing Dev ; 173: 50-60, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29625135

RESUMO

Chromatin change is one of the crucial causes of aging. Specifically, maintenance of heterochromatin stability is critical for cellular integrity, and its loss induces genomic instability and cellular aging. However, the causes and effects of heterochromatin instability in multicellular tissue aging still remain unclear. Here, in the adult Drosophila midgut, we report age-related loss of heterochromatin stability in enterocytes (ECs) due to the loss and dispersion of tri-methylated histone H3 Lys9 (H3K9me3) and heterochromatin protein 1 (HP1). Our study further shows that EC-specific knockdown of Su(var)3-9, histone lysine methyltransferase for H3K9me3 formation, or HP1a leads to intestinal stem cell (ISC) aging through genomic stress, JNK signaling, and apoptotic death in ECs. Our findings revealed the plausible causes of age-related loss of heterochromatin stability in ECs, including oxidative stress and nutrient-sensing AKT/TOR signaling. Taken together, the loss of heterochromatin stability may be the crucial niche aging mechanism for ISC aging which is the prime determinant of intestinal tissue aging. Furthermore, our study provides new clues on the link between heterochromatin and aging.


Assuntos
Envelhecimento/metabolismo , Heterocromatina/metabolismo , Mucosa Intestinal/metabolismo , Transdução de Sinais , Células-Tronco/metabolismo , Envelhecimento/genética , Envelhecimento/patologia , Animais , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster , Técnicas de Silenciamento de Genes , Heterocromatina/genética , Heterocromatina/patologia , Histona-Lisina N-Metiltransferase/genética , Histona-Lisina N-Metiltransferase/metabolismo , Intestinos/patologia , Células-Tronco/patologia
13.
Aging (Albany NY) ; 10(3): 322-338, 2018 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-29514136

RESUMO

Stem cell dysfunction is closely linked to tissue and organismal aging and age-related diseases, and heavily influenced by the niche cells' environment. The DNA damage response (DDR) is a key pathway for tissue degeneration and organismal aging; however, the precise protective role of DDR in stem cell/niche aging is unclear. The Drosophila midgut is an excellent model to study the biology of stem cell/niche aging because of its easy genetic manipulation and its short lifespan. Here, we showed that deficiency of DDR in Drosophila enterocytes (ECs) accelerates intestinal stem cell (ISC) aging. We generated flies with knockdown of Mre11, Rad50, Nbs1, ATM, ATR, Chk1, and Chk2, which decrease the DDR system in ECs. EC-specific DDR depletion induced EC death, accelerated the aging of ISCs, as evidenced by ISC hyperproliferation, DNA damage accumulation, and increased centrosome amplification, and affected the adult fly's survival. Our data indicated a distinct effect of DDR depletion in stem or niche cells on tissue-resident stem cell proliferation. Our findings provide evidence of the essential role of DDR in protecting EC against ISC aging, thus providing a better understanding of the molecular mechanisms of stem cell/niche aging.


Assuntos
Senescência Celular/fisiologia , Dano ao DNA , Drosophila/citologia , Enterócitos/fisiologia , Intestinos/citologia , Células-Tronco/fisiologia , Animais , Animais Geneticamente Modificados , Proliferação de Células , Reparo do DNA , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Regulação da Expressão Gênica , Técnicas de Silenciamento de Genes , Nicho de Células-Tronco
14.
J Affect Disord ; 227: 861-868, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29310206

RESUMO

OBJECTIVES: We provide an opportunity for implementing preventive interventions to decrease suicide mortality among prior suicide attempters. We aim to identify sex-specific high risk periods and factors for later suicide death among suicide attempters. METHODS: 8537 suicide attempters of Korea National Suicide Survey were collected from January 1, 2007 to December 31, 2011 and data on suicide death was obtained as of December 31, 2012. The risk period and risk factors for later suicide death was computed by Kaplan-Meier survival estimates and by plotting the hazard function using the Epanechnikov Kernal smoothing method and cox proportional hazard regression modeling. RESULTS: The hazard for later suicide death was significant up to 10 months for females and 20 months for males. Age 50-69 years (HR, 3.29; [CI: 1.80-6.02] and not being intoxicated with alcohol (HR, 1.94 [1.27-2.97])) in male attempters were significant risk factors for later suicide death. CONCLUSION: Risk for later suicide death was significantly increased during the first full year following index attempts for all with an addition 8 months of risk for males, especially those of advanced age who were sober at the time of attempt.


Assuntos
Comportamentos Relacionados com a Saúde , Assunção de Riscos , Autoimagem , Suicídio/estatística & dados numéricos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , República da Coreia , Fatores de Risco , Caracteres Sexuais , Ideação Suicida , Tentativa de Suicídio/estatística & dados numéricos , Inquéritos e Questionários
15.
Mol Pharm ; 15(4): 1467-1475, 2018 04 02.
Artigo em Inglês | MEDLINE | ID: mdl-29320631

RESUMO

Thermoresponsive and biodegradable linear-dendritic nanoparticles containing poly( N-isopropylacrylamide), poly(l-lactic acid), and poly(l-lysine) dendrons were investigated for sustained release of nerve growth factor (NGF) in response to temperature change. The nanoparticles and their degradants were not cytotoxic to neuron-like PC12 cells for at least one month. The nanoparticles were preferentially taken up by PC12 cells 6-13-times more at temperatures above (37 °C) than below (25 °C) the lower critical solution temperature of the nanoparticles. NGF could be loaded into the nanoparticles in aqueous solution and slowly released from the nanoparticles for 12 and 33 days at 25 and 37 °C, respectively. The released NGF was biologically active by promoting neurite outgrowth of PC12 cells. This work demonstrates a new concept of using thermoresponsive and biodegradable linear-dendritic nanoparticles for thermally targeted and sustained release of NGF and other protein drugs for the treatment of Alzheimer's disease and other neurological disorders.


Assuntos
Preparações de Ação Retardada/química , Nanopartículas/química , Fator de Crescimento Neural/química , Crescimento Neuronal/efeitos dos fármacos , Animais , Linhagem Celular Tumoral , Neurônios/efeitos dos fármacos , Células PC12 , Poliésteres/química , Polilisina/química , Ratos
16.
Graefes Arch Clin Exp Ophthalmol ; 256(2): 341-353, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29322247

RESUMO

PURPOSE: This study investigated microglia and inflammatory cell responses after selective retina therapy (SRT) with microsecond-pulsed laser in comparison to continuous-wave laser photocoagulation (cwPC). METHODS: Healthy C57BL/6 J mice were treated with either a train of short pulses (SRT; 527-nm, Q-switched, 1.7-µs pulse) or a conventional thermal continuous-wave (532-nm, 100-ms pulse duration) laser. The mice were sacrificed and their eyes were enucleated 1, 3, 7, and 14 days after both laser treatments. Pattern of cell death on retinal section was evaluated by TUNEL assay, and the distribution of activated inflammatory cells and glial cells were observed under immunohistochemistry. Consecutive changes for the expression of cytokines such as IL-1ß, TNF-α, and TGF-ß were also examined using immunohistochemistry, and compared among each period after quantification by Western blotting. RESULTS: The numbers of TUNEL-positive cells in the retinal pigment epithelium (RPE) layer did not differ in SRT and cwPC lesions, but TUNEL-positive cells in neural retinas were significantly less on SRT. Vague glial cell activation was observed in SRT-treated lesions. The population of inflammatory cells was also significantly decreased after SRT, and the cells were located in the RPE layer and subretinal space. Proinflammatory cytokines, including IL-1ß and TNF-α, showed significantly lower levels after SRT; conversely, the level of TGF-ß was similar to the cwPC-treated lesion. CONCLUSIONS: SRT resulted in selective RPE damage without collateral thermal injury to the neural retina, and apparently produced negligible glial activation. In addition, SRT showed a markedly less inflammatory response than cwPC, which may have important therapeutic implications for several macular diseases.


Assuntos
Citocinas/biossíntese , Fotocoagulação a Laser/métodos , Lasers de Estado Sólido/uso terapêutico , Neuroglia/patologia , Doenças Retinianas/cirurgia , Epitélio Pigmentado da Retina/patologia , Animais , Apoptose , Western Blotting , Contagem de Células , Modelos Animais de Doenças , Angiofluoresceinografia/métodos , Fundo de Olho , Imuno-Histoquímica , Marcação In Situ das Extremidades Cortadas , Camundongos , Camundongos Endogâmicos C57BL , Neuroglia/metabolismo , Doenças Retinianas/diagnóstico , Doenças Retinianas/metabolismo , Epitélio Pigmentado da Retina/metabolismo , Tomografia de Coerência Óptica/métodos
17.
Eye Contact Lens ; 44 Suppl 1: S326-S329, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27607149

RESUMO

OBJECTIVES: To describe the first case of Descemet membrane endothelial keratoplasty (DMEK) combined with argon laser photocoagulation and intracameral 5-fluorouracil (5-FU) injection in a patient with epithelial downgrowth after cataract surgery. METHODS: Case report and review of the literature. RESULTS: A 77-year-old female underwent uneventful cataract surgery using a clear corneal incision in her left eye. Six months after surgery, an epithelial cell sheet began to cover the posterior cornea and then spread to the anterior chamber structures, leading to anterior synechia and corectopia at 2 years. Argon laser photocoagulation was used to remove epithelial downgrowth on the iris surface. However, retrocorneal epithelial downgrowth gradually progressed, resulting in bullous keratopathy. DMEK with intracameral 5-FU injection was performed to remove epithelial tissue and replace the diseased endothelium with healthy endothelium. One year after surgery, her vision improved to 20/50 and the endothelial cell count was 1,643 cells/mm in her left eye. There were no further complications or recurrence of epithelial downgrowth. CONCLUSIONS: DMEK with preoperative argon laser and intraoperative 5-FU is a useful option for the treatment of diffuse epithelial downgrowths.


Assuntos
Extração de Catarata/efeitos adversos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Epitélio Posterior/patologia , Distrofia Endotelial de Fuchs/cirurgia , Complicações Pós-Operatórias , Idoso , Feminino , Seguimentos , Distrofia Endotelial de Fuchs/diagnóstico , Distrofia Endotelial de Fuchs/etiologia , Humanos , Tomografia de Coerência Óptica , Acuidade Visual
18.
J Autism Dev Disord ; 48(1): 225-238, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28936640

RESUMO

While a growing number of studies indicate associations between experiences of bullying and autism spectrum disorder (ASD), it is not clear what roles comorbid behavioral problems may play. We investigated the experiences of children with ASD as victims and/or perpetrators of bullying. Children with ASD epidemiologically ascertained participated in a cross-sectional study. Although children with ASD showed significantly increased risk for bullying involvement compared to community children, after controlling for comorbid psychopathology and other demographic factors, increased risks for being perpetrators or victim-perpetrators disappeared while risk for being bullied/teased continued to be significantly elevated. This finding will help guide medical, educational and community personnel to effectively identify children with ASD at risk for school bullying and develop interventions.


Assuntos
Transtorno do Espectro Autista/psicologia , Bullying/psicologia , Vítimas de Crime/psicologia , Instituições Acadêmicas , Estudantes/psicologia , Transtorno do Espectro Autista/diagnóstico , Criança , Comorbidade , Estudos Transversais , Feminino , Humanos , Estudos Longitudinais , Masculino , Instituições Acadêmicas/tendências
19.
Int Ophthalmol ; 38(3): 1333-1337, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28523526

RESUMO

PURPOSE: To report a case of iris-fixated phakic intraocular lens (pIOL) implantation in a patient with an extremely steep cornea, shallow anterior chamber, and small corneal diameter caused by retinopathy of prematurity (ROP) and scleral encircling. METHODS: Case report. RESULTS: Iris-fixated pIOLs were implanted in a 19-year-old patient with refraction of -18.5 -0.75 × 180 in the right eye and -15.5 -1.25 × 180 in the left eye. The keratometric values were 53.50 and 51.25 diopters (D) in the right eye and 54.75 and 51.75 D in the left eye. The white-to-white diameter and anterior chamber depth were 10.6 and 3.37 mm, respectively, in the right eye and 10.5 and 3.33 mm, respectively, in the left eye. CONCLUSION: A small pIOL was used to guarantee a safety distance and resulted in a one-line gain in uncorrected distant visual acuity and stable endothelial cell density 1 year after surgery. An iris-fixated pIOL Vis therefore an effective option for myopic patients with ROP.


Assuntos
Cirurgia da Córnea a Laser/métodos , Iris/cirurgia , Miopia/cirurgia , Lentes Intraoculares Fácicas , Retinopatia da Prematuridade/complicações , Acuidade Visual , Córnea/patologia , Córnea/cirurgia , Topografia da Córnea , Feminino , Seguimentos , Humanos , Miopia/complicações , Miopia/fisiopatologia , Retinopatia da Prematuridade/diagnóstico , Fatores de Tempo , Adulto Jovem
20.
Eur Arch Psychiatry Clin Neurosci ; 268(3): 301-316, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28555406

RESUMO

Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.


Assuntos
Saúde da Família , Polimorfismo de Nucleotídeo Único/genética , Transtornos de Tique/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Triptofano Hidroxilase/genética , Adulto Jovem
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