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OBJECTIVE: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom control is the focus of SWS treatment, since no causal therapy exists yet. For pharmacologically intractable epilepsy, surgery is a treatment option. The aim of this systematic review and meta-analysis was to provide an overview of the literature regarding lesionectomy in SWS with a focus on seizure outcome, complications, and motor and cognitive development. METHODS: The PubMed and Embase databases were searched using a systematic search strategy to identify studies on SWS from their inception until 2021. Two independent researchers assessed the studies for inclusion and quality. Outcome measures were seizure outcome, postoperative complications, and motor and cognitive development. Thereafter, a systematic review was conducted, and a meta-analysis was performed for all included cohort studies. Risk of bias was assessed using the Newcastle-Ottawa Scale. Forest plots have been generated for all outcomes; risk ratio was used for pooled outcomes. A p value < 0.05 was considered as statistically significant. RESULTS: After removal of duplicates, the authors screened 439 articles, of which 9 articles with 150 patients were included. Our case and 5 case reports and 4 retrospective cohort studies were included for systematic review. The latter 4 studies qualified for the meta-analysis. In these 4 articles, 144 patients received surgical treatment: 81 (56%) underwent focal lesionectomy and 63 (44%) hemispherectomy. Pooled outcome analysis for postoperative favorable seizure outcome showed a nonsignificant difference between lesionectomy and hemispherectomy (69.2% vs 87.3%; RR 0.73, 95% CI 0.50-1.08; t = -2.56, p = 0.08). Lesionectomy showed a significantly lower rate for developmental delay and postoperative hemiparesis in comparison with hemispherectomy (29.8% vs 76.3%; RR 0.41, 95% CI 0.28-0.59; z = -4.77, p < 0.0001 and 18.1% vs 100%; RR 0.11, 95% CI 0.06-0.21; z = -6.58, p < 0.0001, respectively). CONCLUSIONS: Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.
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Epilepsia , Hemisferectomía , Síndrome de Sturge-Weber , Preescolar , Epilepsia/etiología , Epilepsia/cirugía , Humanos , Estudios Retrospectivos , Convulsiones/etiología , Convulsiones/cirugía , Síndrome de Sturge-Weber/complicaciones , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/cirugíaRESUMEN
BACKGROUND: Tuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70-80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC. METHODS: All patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC. RESULTS: Complete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p < 0.01). 37 (7%) of the 521 patients were within the age-range of 18-40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p < 0.05), and 2 (33.3%) of which with a single, unilateral AML (p < 0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p < 0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2-344.0; p = 0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01-0.88; p = 0.04)) to be a risk factor for TSC. CONCLUSIONS: The presence of bilateral AML in patients within the age-range of 18-40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.
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Angiomiolipoma/etiología , Neoplasias Renales/etiología , Esclerosis Tuberosa/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Angiomiolipoma/diagnóstico por imagen , Correlación de Datos , Femenino , Humanos , Neoplasias Renales/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía , Estudios Retrospectivos , Esclerosis Tuberosa/diagnóstico por imagen , Adulto JovenRESUMEN
OBJECTIVE: Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. We aim to improve awareness of the phenotype and available diagnostic and therapeutic strategies to reduce delayed diagnosis or misdiagnosis, optimize management, and improve understanding of pathophysiologic mechanisms. METHODS: Forty-three individuals with SRD were identified from 23 international medical centers. The phenotype and treatment response were assessed by chart review using a detailed standardized instrument and by literature review for cases for which records were unavailable. RESULTS: In most cases, motor and language delays, axial hypotonia, dystonia, weakness, oculogyric crises, and diurnal fluctuation of symptoms with sleep benefit become evident in infancy or childhood. Average age of onset is 7 months, with delay to diagnosis of 9.1 years. Misdiagnoses of cerebral palsy (CP) are common. Most patients benefit dramatically from levodopa/carbidopa, often with further improvement with the addition of 5-hydroxytryptophan. Cerebrospinal fluid findings are distinctive. Diagnosis is confirmed by mutation analysis and/or enzyme activity measurement in cultured fibroblasts. INTERPRETATION: Common, clinical findings of SRD, aside from oculogyric crises and diurnal fluctuation, are nonspecific and mimic CP with hypotonia or dystonia. Patients usually improve dramatically with treatment. Consequently, we recommend consideration of SRD not only in patients with levodopa-responsive motor disorders, but also in patients with developmental delays with axial hypotonia, and patients with unexplained or atypical presumed CP. Biochemical investigation of cerebrospinal fluid is the preferred method of initial investigation. Early diagnosis and treatment are recommended to prevent ongoing brain dysfunction.
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Oxidorreductasas de Alcohol/deficiencia , Oxidorreductasas de Alcohol/genética , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/genética , Edad de Inicio , Secuencia de Bases , Parálisis Cerebral/diagnóstico , Niño , Preescolar , Análisis Mutacional de ADN , Discapacidades del Desarrollo/tratamiento farmacológico , Diagnóstico Diferencial , Dopaminérgicos/uso terapéutico , Femenino , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Trastornos del Movimiento/tratamiento farmacológico , Mutación , Neurotransmisores/análisis , Neurotransmisores/uso terapéuticoRESUMEN
Therapeutic drug monitoring (TDM) of medications with a narrow therapeutic window is a common clinical practice to minimize toxic effects and maximize clinical outcomes. Routine analyses rely on the quantification of systemic blood concentrations of drugs. Alternative matrices such as exhaled breath are appealing because of their inherent non-invasive nature. This is especially the case for pediatric patients. We have recently showcased the possibility of predicting systemic concentrations of valproic acid (VPA), an anti-seizure medication by real-time breath analysis in two real clinical settings. This approach, however, comes with the limitation of the patients having to physically exhale into the mass spectrometer. This restricts the possibility of sampling from patients not capable or available to exhale into the mass spectrometer located on the hospital premises. In this work, we developed an alternative method to overcome this limitation by collecting the breath samples in customized bags and subsequently analyzing them by secondary electrospray ionization coupled to high-resolution mass spectrometry (SESI-HRMS). A total ofn= 40 patients (mean ± SD, 11.5 ± 3.5 y.o.) diagnosed with epilepsy and taking VPA were included in this study. The patients underwent three measurements: (i) serum concentrations of total and free VPA, (ii) real-time breath analysis and (iii) off-line analysis of exhaled breath collected in bags. The agreement between the real-time and the off-line breath analysis methods was evaluated using Lin's concordance correlation coefficient (CCC). CCC was computed for ten mass spectral predictors of VPA concentrations. Lin's CCC was >0.6 for all VPA-associated features, except for two low-signal intensity isotopic peaks. Finally, free and total serum VPA concentrations were predicted by cross validating the off-line data set. Support vector machine algorithms provided the most accurate predictions with a root mean square error of cross validation of 29.0 ± 7.4 mg l-1and 3.9 ± 1.4 mg l-1for total and free VPA (mean ± SD), respectively. As a secondary analysis, we explored whether exhaled metabolites previously associated with side-effects and response to medication could be rendered by the off-line analysis method. We found that five features associated with side effects showed a CCC > 0.6, whereas none of the drug response-associated peaks reached this cut-off. We conclude that the clinically relevant free fraction of VPA can be predicted by this combination of off-line breath collection with rapid SESI-HRMS analysis. This opens new possibilities for breath based TDM in clinical settings.
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Líquidos Corporales , Neoplasias de la Mama , Humanos , Adolescente , Niño , Femenino , Ácido Valproico/uso terapéutico , Pruebas Respiratorias , AlgoritmosRESUMEN
We report the case of an adolescent girl who suffered from symptomatic refractory focal epilepsy after an arteria cerebri media insult 15 years prior to this report. Five weeks after initiation of an add-on therapy with vigabatrin, she was seizure free. However, 2 weeks later, she suffered from psychosis. The phenomenon is well known as forced normalization. However, although the medication was stopped immediately, 3 years later, she shows not only persistent mild increased anxiousness, but also a marked reduction of seizure frequency as well as seizure intensity.
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Anticonvulsivantes/efectos adversos , Epilepsias Parciales/complicaciones , Epilepsias Parciales/tratamiento farmacológico , Psicosis Inducidas por Sustancias/etiología , Vigabatrin/efectos adversos , Adolescente , Síntomas Conductuales/tratamiento farmacológico , Ondas Encefálicas/efectos de los fármacos , Electroencefalografía , Femenino , HumanosRESUMEN
We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel homozygous nonsense mutations in the FOLR1 gene (p.R204X), and FGF3 gene (p.C50X). While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development. Our patient presented with congenital deafness, hypotonia, dysphygia and ataxia in early childhood. At the age of 6 years he developed intractable epilepsy, and deteriorated clinically with respiratory arrest and severe hypercapnea at the age of 8 years. In contrast to the previously published patients with a FOLR1 gene defect, our patient presented with an abnormal l-dopa metabolism in CSF and high 3-O-methyl-dopa. Upon oral treatment with folinic acid the boy regained consciousness while the epilepsy could be successfully managed only with additional pyridoxal 5'-phosphate (PLP). This report pinpoints the importance of CSF folate investigations in children with unexplained progressive neurological presentations, even if a malformative syndrome is obviously present, and suggests a trial with PLP in folinic acid-unresponsive seizures.
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Anomalías Congénitas/patología , Oído Interno/anomalías , Epilepsia/tratamiento farmacológico , Receptor 1 de Folato/genética , Deficiencia de Ácido Fólico/patología , Fosfato de Piridoxal/uso terapéutico , Anomalías Dentarias/patología , Secuencia de Bases , Niño , Codón sin Sentido/genética , Microtia Congénita , Cartilla de ADN/genética , Dihidroxifenilalanina/análogos & derivados , Dihidroxifenilalanina/metabolismo , Oído/anomalías , Oído/patología , Electroencefalografía , Epilepsia/etiología , Epilepsia/patología , Factor 3 de Crecimiento de Fibroblastos/genética , Humanos , Levodopa/líquido cefalorraquídeo , Levodopa/metabolismo , Masculino , Datos de Secuencia Molecular , Radiografía , Análisis de Secuencia de ADN , Cráneo/diagnóstico por imagen , Síndrome , Tirosina/análogos & derivadosRESUMEN
Relationships between depressed mood, abstinence confidence and temptation, and experienced emotions just before and during recent drinking driving sequences (drinking driving emotional states: DDES) were examined in a sample of DUI (Driving Under the Influence) offenders. Depressed mood offenders (41% of sample) reported lower abstinence confidence, higher temptation, and higher DDES, especially in association with negative affective states. Implications for interventions with depressed mood DUI offenders are discussed.
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Afecto , Intoxicación Alcohólica/epidemiología , Intoxicación Alcohólica/psicología , Conducción de Automóvil/estadística & datos numéricos , Depresión/epidemiología , Depresión/psicología , Autoeficacia , Adulto , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , TemplanzaRESUMEN
The relationship between depressed mood and interest in additional counseling was examined in three samples of adjudicated first DUI (drinking/driving) offenders who were participating in a court-mandated program. Based on prior research suggesting a relationship between depressed mood, higher motivation to change drinking and drinking/driving, and greater effectiveness of additional supportive brief intervention during the program, it was hypothesized that offenders expressing a depressed mood would be more receptive and less resistant to counseling than would offenders not expressing a depressed mood. In three sub-studies using several different measures of depressed mood, depressed mood was related to higher receptivity/lower resistance to counseling. Resistance rates were lowest for counseling that would occur within the program at no additional cost and highest when counseling required extra sessions or extra cost. Overall, Caucasian males were more resistant to counseling than were females or African-American males, although a differential relationship between depression and counseling resistance was not confirmed in comparisons of gender by ethnic groups.
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Consumo de Bebidas Alcohólicas/psicología , Conducción de Automóvil/psicología , Depresión/psicología , Motivación , Psicoterapia Breve , Adulto , Consumo de Bebidas Alcohólicas/etnología , Consumo de Bebidas Alcohólicas/prevención & control , Consejo , Crimen/psicología , Diagnóstico Dual (Psiquiatría) , Femenino , Humanos , Masculino , Persona de Mediana Edad , Aceptación de la Atención de Salud/etnología , Aceptación de la Atención de Salud/psicología , Escalas de Valoración Psiquiátrica , Factores SexualesRESUMEN
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patients with TSC susceptible to the growth of non-malignant tumours in multiple organs. Previously, surgery was the main therapeutic option for TSC. However, pharmacological therapy with mTOR inhibitors such as everolimus and sirolimus is now emerging as an alternate approach. Everolimus and sirolimus have already been shown to be effective in treating subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML), and everolimus is currently being evaluated in treating TSC-related epilepsy. In November 2013 a group of European experts convened to discuss the current options and practical considerations for treating various manifestations of TSC. This article provides evidence-based recommendations for the treatment of SEGA, TSC-related epilepsy and renal AML, with a focus on where mTOR inhibitor therapy may be considered alongside other treatment options. Safety considerations regarding mTOR inhibitor therapy are also reviewed. With evidence of beneficial effects in neurological and non-neurological TSC manifestations, mTOR inhibitors may represent a systemic treatment for TSC.
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Inhibidores de Proteínas Quinasas/uso terapéutico , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Esclerosis Tuberosa/tratamiento farmacológico , Angiomiolipoma/tratamiento farmacológico , Astrocitoma/tratamiento farmacológico , Epilepsia/tratamiento farmacológico , Humanos , Neoplasias Renales/tratamiento farmacológico , Transducción de Señal/efectos de los fármacosRESUMEN
Tuberous Sclerosis Complex (TSC) is a genetic disease causing uncontrolled growth of hamartomas involving different organ systems. In the last decade, dysregulation of the mTORC1 pathway was shown to be a main driver of tumor growth in TSC. Recently, a new crosstalk was detected between the mTORC1 and the Hippo-YAP pathway, another major cell signaling cascade controlling cell growth and organ size. Elucidating this connection is an important step in understanding the complexity of TSC, enabling new pharmacological targets and therapeutical options.
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Each year thousands of people are treated in emergency departments and trauma centers for alcohol-related injuries, including those sustained in drinking driving crashes. Emergency departments and trauma centers provide an opportunity to screen for alcohol use problems and intervene with injured or high-risk drivers to reduce future alcohol-related traffic and injury risk. Recently physicians have expressed interest in exploring screening and intervention for alcohol use problems in these venues as a means of improving clinical care. This article reviews the literature that has examined screening and brief interventions in acute care settings to reduce future alcohol consumption and alcohol-related injury. The methodological and practical issues inherent in conducting these studies as well as in actual practice are discussed. The chaotic environment of acute care, the large numbers of patients required to be screened to obtain an adequate study sample, and high attrition rates make study in these settings difficult at best and are methodological problems that should be addressed in future research. A basic question that has not been adequately answered by research to date is whether reduction in alcohol consumption will translate to reduced alcohol-related harm, such as driving while impaired, or injurious or fatal crashes. Long-term studies that assess records-based outcomes in addition to alcohol-consumption levels are needed.
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Accidentes de Tránsito , Consumo de Bebidas Alcohólicas , Servicio de Urgencia en Hospital , Consumo de Bebidas Alcohólicas/prevención & control , Alcoholismo/diagnóstico , Consejo , Humanos , Aplicación de la Ley , Asunción de Riesgos , Estados UnidosRESUMEN
BACKGROUND: Facial angiofibromas are present in most of the patients with the tuberous sclerosis complex and may cause severe disfiguration of the face. The tumor growth in tuberous sclerosis complex is promoted by the disinhibition of the mammalian target of rapamycin pathway. Thus, the systemic treatment with mammalian target of rapamycin inhibitors such as sirolimus and everolimus has recently been established to treat specific tuberous sclerosis complex-associated lesions. For patients who suffer from disfiguring facial angiofibromas only, there is a need for a topical use of mammalian target of rapamycin inhibitors. Sirolimus has been shown to be beneficial in treating facial angiofibromas. But the topical use of everolimus, which has the approval to treat tuberous sclerosis complex-associated tumors, namely giant cell astrocytomas and renal angiofibromas, has not been reported. PATIENTS AND RESULTS: We present a 10-year-old girl whose facial angiofibromas were successfully treated with an everolimus ointment without relevant side effects. In addition, we provide a short pharmacological overview of sirolimus and everolimus with focus on the topical use. CONCLUSIONS: Topical everolimus seems to be a favorable and safe option for patients with facial angiofibromas who do not require systemic treatment.
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Angiofibroma/etiología , Cara/patología , Inmunosupresores/uso terapéutico , Sirolimus/análogos & derivados , Esclerosis Tuberosa/complicaciones , Niño , Everolimus , Femenino , Humanos , Sirolimus/uso terapéuticoRESUMEN
Genetic studies have shown that the tuberous sclerosis complex (TSC) 1-TSC2-mammalian target of Rapamycin (mTOR) and the Hippo-Yes-associated protein 1 (YAP) pathways are master regulators of organ size, which are often involved in tumorigenesis. The crosstalk between these signal transduction pathways in coordinating environmental cues, such as nutritional status and mechanical constraints, is crucial for tissue growth. Whether and how mTOR regulates YAP remains elusive. Here we describe a novel mouse model of TSC which develops renal mesenchymal lesions recapitulating human perivascular epithelioid cell tumors (PEComas) from patients with TSC. We identify that YAP is up-regulated by mTOR in mouse and human PEComas. YAP inhibition blunts abnormal proliferation and induces apoptosis of TSC1-TSC2-deficient cells, both in culture and in mosaic Tsc1 mutant mice. We further delineate that YAP accumulation in TSC1/TSC2-deficient cells is due to impaired degradation of the protein by the autophagosome/lysosome system. Thus, the regulation of YAP by mTOR and autophagy is a novel mechanism of growth control, matching YAP activity with nutrient availability under growth-permissive conditions. YAP may serve as a potential therapeutic target for TSC and other diseases with dysregulated mTOR activity.
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Proteínas Adaptadoras Transductoras de Señales/metabolismo , Autofagia , Fosfoproteínas/metabolismo , Serina-Treonina Quinasas TOR/metabolismo , Esclerosis Tuberosa/metabolismo , Proteínas Adaptadoras Transductoras de Señales/genética , Angiomiolipoma/genética , Angiomiolipoma/metabolismo , Animales , Apoptosis/efectos de los fármacos , Apoptosis/genética , Autofagia/efectos de los fármacos , Autofagia/genética , Proteínas de Ciclo Celular , Proliferación Celular , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/genética , Modelos Animales de Enfermedad , Regulación de la Expresión Génica , Humanos , Inmunohistoquímica , Riñón/metabolismo , Riñón/patología , Ratones , Ratones Noqueados , Fosfoproteínas/genética , Porfirinas/farmacología , Transducción de Señal/efectos de los fármacos , Esclerosis Tuberosa/genética , Esclerosis Tuberosa/patología , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteínas Supresoras de Tumor/genética , Proteínas Supresoras de Tumor/metabolismo , Regulación hacia Arriba , Verteporfina , Proteínas Señalizadoras YAPRESUMEN
Reversible T2-hyperintensities in cranial MRI have been recently observed in infants with infantile spasms, who were treated with vigabatrin. In most cases, this phenomenon is solely been reported in neuroimaging practice without clinical relevance. We report two patients with infantile spasms, who not only developed transient T2-hyperintensities, but also presented acute encephalopathy, and extrapyramidal symptoms under vigabatrin therapy.
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Anticonvulsivantes/efectos adversos , Enfermedades de los Ganglios Basales/etiología , Distonía/etiología , Imagen por Resonancia Magnética/métodos , Espasmos Infantiles/tratamiento farmacológico , Vigabatrin/efectos adversos , Enfermedad Aguda , Síndrome de Down/diagnóstico , Humanos , Lactante , Cráneo/patología , Resultado del TratamientoRESUMEN
Array genomic hybridization (AGH) has recently been implemented as a diagnostic tool for the detection of submicroscopic copy number variants (CNVs) in patients with developmental disorders. However, there is no consensus regarding the choice of the platform, the minimal resolution needed and systematic interpretation of CNVs. We report our experience in the clinical diagnostic use of high resolution AGH up to 100 kb on 131 patients with chromosomal phenotypes but previously normal karyotype. We evaluated the usefulness in our clinics and laboratories by the detection rate of causal CNVs and CNVs of unknown clinical significance and to what extent their interpretation would challenge the systematic use of high-resolution arrays in clinical application. Prioritizing phenotype-genotype correlation in our interpretation strategy to criteria previously described, we identified 33 (25.2%) potentially pathogenic aberrations. 16 aberrations were confirmed pathogenic (16.4% syndromic, 8.5% non-syndromic patients); 9 were new and individual aberrations, 3 of them were pathogenic although inherited and one is as small as approx 200 kb. 13 of 16 further CNVs of unknown significance were classified likely benign, for 3 the significance remained unclear. High resolution array allows the detection of up to 12.2% of pathogenic aberrations in a diagnostic clinical setting. Although the majority of aberrations are larger, the detection of small causal aberrations may be relevant for family counseling. The number of remaining unclear CNVs is limited. Careful phenotype-genotype correlations of the individual CNVs and clinical features are challenging but remain a hallmark for CNV interpretation.
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Anomalías Múltiples/genética , Trastorno Autístico/genética , Aberraciones Cromosómicas , Cromosomas Humanos , Discapacidades del Desarrollo/genética , Hibridación de Ácido Nucleico/métodos , Estudios de Asociación Genética , Humanos , Análisis de Secuencia por Matrices de Oligonucleótidos , Receptores de Ácido Kaínico/genética , Receptor de Ácido Kaínico GluK2RESUMEN
Impaired driving is a leading cause of alcohol-related deaths and injuries. Rehabilitation or remedial programs, involving assessment and screening of convicted impaired drivers to determine problem severity and appropriate programs, are an important component of society's response to this problem. Ontario's remedial program, Back on Track (BOT), involves an assessment process that includes administration of the Research Institute on Addictions Self-Inventory (RIASI) to determine assignment to an education or treatment program. The purpose of this study is to identify factors within the RIASI and examine how factor scores are associated with alcohol use and problem indicators at assessment and six-month follow-up. The sample included 22,298 individuals who completed BOT from 2000 to 2005. Principal component factor analysis with varimax rotation was conducted on RIASI data and an eight factor solution was retained: (1) Negative Affect, (2) Sensation Seeking, (3) Alcohol-Quantity, (4) Social Conformity, (5) High Risk Lifestyle, (6) Alcohol Problems, (7) Interpersonal Competence, and (8) Family History. Regression analyses were conducted to examine associations between factors and alcohol and problem measures obtained at assessment and at follow-up. Most factors, except for Interpersonal Competence, were associated with more alcohol use and problems at assessment. A similar pattern was observed at 6-month follow-up, but interestingly some factors (Negative Affect, Sensation Seeking, Alcohol-Quantity and Family History) predicted fewer days of alcohol use. The Interpersonal Competence factor was associated with significantly lower levels of alcohol use and problems at both assessment and follow-up. This work suggests that the RIASI provides information on several domains that have important relationships with alcohol problem severity and outcomes.
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Academias e Institutos , Consumo de Bebidas Alcohólicas , Alcoholismo , Conducción de Automóvil , Desarrollo de Programa , Femenino , Indicadores de Salud , Humanos , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Ontario , Pruebas de Personalidad , Estudios Prospectivos , Psicometría , Análisis de Regresión , Factores de Riesgo , Asunción de RiesgosRESUMEN
This review summarizes evidence on negative affect among drinking drivers. Elevations in negative affect, including depressed mood, anxiety and hostility, have long been noted in convicted drinking drivers, and recent evidence suggests an association between negative affect and driving after drinking in the general population. Previous efforts to understand the significance of this negative affective state have ranged from suggestions that it may play a causal role in drinking driving to suggestions that it may interfere with response to treatment and remedial interventions. Recent studies have uncovered an important paradox involving negative affect among convicted drinking drivers (hereafter DUI offenders). DUI offenders with high levels of negative affect recidivated more frequently following a DUI program than did those reporting no or minimal negative affect. However, when a brief supportive motivational intervention was added to the program, offenders with high negative affect levels showed lower recidivism rates than did those with no or minimal negative affect. The review includes studies from the general literature on alcohol treatment in which the same negative affect paradox was reported. In an attempt to understand this paradox, we present a conceptual model involving well-established psychological processes, with a focus on salient discrepancy, the crucial component of cognitive dissonance. In this model, negative affect plays an important role in motivating both continued high-risk drinking as well as therapeutic change. This model suggests that links between motivational states and negative affective processes may be more complex than previously thought. Implications for intervention with DUI offenders are discussed.
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Afecto , Consumo de Bebidas Alcohólicas/psicología , Disonancia Cognitiva , Depresión/psicología , Motivación , Autoeficacia , Consumo de Bebidas Alcohólicas/epidemiología , Intoxicación Alcohólica/epidemiología , Intoxicación Alcohólica/psicología , Conducción de Automóvil/psicología , Depresión/epidemiología , Humanos , Modelos TeóricosRESUMEN
OBJECTIVE: Because both alcohol and depressed mood exert deleterious effects on psychomotor performance, the possibility that people with depressed mood may be more likely to drive after drinking may have important implications for traffic safety. In this work, we examine the association between depressed mood and self-reported driving after drinking in a large representative sample of adults in Ontario. METHOD: Data are based on the 2001-2004 Centre for Addiction and Mental Health Monitor, an ongoing cross-sectional telephone survey of Ontario adults ages 18 and older (N=3,979). Logistic regression analysis was performed to identify the risk of driving after drinking two or more drinks in the previous hour within the past 12 months associated with scores on a screening measure of depressed mood (depression-anxiety and social functioning subscales of the 12-item General Health Questionnaire), while controlling for alcohol-use measures (weekly volume and frequency of heavy drinking), driving exposure, and demographic factors. RESULTS: Logistic regression analysis revealed that the odds of reporting driving after drinking within the past year increase significantly as depressed mood (specifically, depression-anxiety scores) increases. CONCLUSIONS: Additional research on the nature of the link between depressed mood and impaired driving should be undertaken, including assessing whether there exists any synergistic effects of depressed mood and alcohol on collision risk and considering the implications of this relationship for prevention and remedial activities.
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Consumo de Bebidas Alcohólicas/psicología , Intoxicación Alcohólica/psicología , Conducción de Automóvil/psicología , Depresión/psicología , Adolescente , Adulto , Estudios Transversales , Recolección de Datos , Femenino , Humanos , Modelos Logísticos , Masculino , Ontario/epidemiología , Psicometría , Desempeño Psicomotor/efectos de los fármacosRESUMEN
Court-mandated treatment, which requires offenders convicted of alcohol or other drug-related crimes to participate in treatment for their substance abuse problems or face legal consequences, has long been a component of sanctioning for driving under the influence (DUI) and is a primary path of entry into alcoholism treatment for many people with problem drinking. Several issues are relevant to mandated treatment: screening, assessment and referral, effectiveness, DUI events as opportunities for intervention, brief interventions for offenders outside of mandated treatment, and cost-effectiveness of mandated treatment. Treatment effectiveness depends to some extent on offenders' motivation to participate, and offenders may resist treatment when their participation is coerced. Types of treatment such as motivational enhancement therapy may prove cost-effective with these involuntary participants. More research is needed into the changing DUI population, impaired driving and multidrug use, and new technologies for monitoring DUI offenders.