RESUMEN
BACKGROUND: A urachal mass is a relatively rare presentation to the urologists' practice, often requiring radical surgical excision for a definitive diagnosis. Xanthogranulomatous inflammation of the urachus is an extremely rare entity with few cases reported worldwide, and to the best of our knowledge, no cases reported in the western world. CASE PRESENTATION: In this case, a 55-year-old male patient presented with bothersome lower urinary tract symptoms and computed tomography findings demonstrating a urachal mass that was worrisome for urachal carcinoma. Following surgical intervention, histopathology revealed urachal xanthogranuloma. Post-operatively, the patient recovered well, and eventually, he had symptomatic and radiologic improvement. CONCLUSION: This case brings awareness to a rare presentation of a urachal mass-urachal xanthogranuloma. While operative intervention was both diagnostic and therapeutic, we highlight the challenge in differentiating between benign and malignant processes for urachal masses. Herein, we show the importance of including urachal xanthogranuloma in the differential diagnosis of a urachal mass to prevent further morbidity associated with the treatment of this disease.
Asunto(s)
Uraco , Neoplasias de la Vejiga Urinaria , Xantomatosis , Masculino , Humanos , Persona de Mediana Edad , Uraco/diagnóstico por imagen , Uraco/patología , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/cirugía , Xantomatosis/diagnóstico , Xantomatosis/cirugía , Xantomatosis/patología , Diagnóstico Diferencial , Tomografía Computarizada por Rayos XRESUMEN
Background Multiparametric MRI has led to increased detection of clinically significant prostate cancer (csPCa). Micro-US is being investigated for csPCa detection. Purpose To compare multiparametric MRI and micro-US in detecting csPCa (grade group ≥2) and to determine the proportion of MRI nodules visible at micro-US for real-time targeted biopsy. Materials and methods This prospective, single-center trial enrolled biopsy-naive men with suspected prostate cancer (PCa) between May 2019 and September 2020. All patients underwent multiparametric MRI followed by micro-US; findings at both were interpreted in a blinded fashion, followed by targeted biopsy and nontargeted systematic biopsy using micro-US. Proportions were compared using the exact McNemar test. The differences in proportions were calculated. Results Ninety-four men (median age, 61 years; IQR, 57-68 years) were included. MRI- and micro-US-targeted biopsy depicted csPCa in 37 (39%) and 33 (35%) of the 94 men, respectively (P = .22); clinically insignificant PCa in 14 (15%) and 15 (16%) (P > .99); and cribriform and/or intraductal PCa in 14 (15%) and 13 (14%) (P > .99). The MRI- plus micro-US-targeted biopsy pathway depicted csPCa in 38 of the 94 (40%) men. The addition of nontargeted systematic biopsy to MRI- plus micro-US-targeted biopsy did not enable identification of any additional men with csPCa but did help identify nine additional men with clinically insignificant PCa (P = .04). Biopsy was avoided in 32 of the 94 men (34%) with MRI and nine of the 94 men (10%) with micro-US (P < .001). Among 93 MRI targets, 62 (67%) were prospectively visible at micro-US. Conclusion MRI and micro-US showed similar rates of prostate cancer detection, but more biopsies were avoided with the MRI pathway than with micro-US, with no benefit of adding nontargeted systematic biopsy to the MRI- plus micro-US-targeted biopsy pathway. Most MRI lesions were prospectively visible at micro-US, allowing real-time targeted biopsy. ClinicalTrials.gov registration no.: NCT03938376 © RSNA, 2022 Online supplemental material is available for this article.
Asunto(s)
Imágenes de Resonancia Magnética Multiparamétrica , Neoplasias de la Próstata , Humanos , Masculino , Persona de Mediana Edad , Biopsia Guiada por Imagen/métodos , Imagen por Resonancia Magnética/métodos , Estudios Prospectivos , Próstata/diagnóstico por imagen , Próstata/patología , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/patología , AncianoRESUMEN
BACKGROUND: To investigate the impact of exogenous covert attention on chromatic (blue and red) and achromatic visual perception in adults with and without Attention Deficit Hyperactivity Disorder (ADHD). Exogenous covert attention, which is a transient, automatic, stimulus-driven form of attention, is a key mechanism for selecting relevant information in visual arrays. METHODS: 30 adults diagnosed with ADHD and 30 healthy adults, matched on age and gender, performed a psychophysical task designed to measure the effects of exogenous covert attention on perceived color saturation (blue, red) and contrast sensitivity. RESULTS: The effects of exogenous covert attention on perceived blue and red saturation levels and contrast sensitivity were similar in both groups, with no differences between males and females. Specifically, exogenous covert attention enhanced the perception of blue saturation and contrast sensitivity, but it had no effect on the perception of red saturation. CONCLUSION: The findings suggest that exogenous covert attention is intact in adults with ADHD and does not account for the observed impairments in the perception of chromatic (blue and red) saturation.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/psicología , Atención , Percepción de Color , Visión de Colores , Adolescente , Adulto , Color , Sensibilidad de Contraste , Señales (Psicología) , Femenino , Humanos , Masculino , Estimulación Luminosa , Caracteres Sexuales , Adulto JovenRESUMEN
OBJECTIVES: To test the retinal dopaminergic hypothesis, which posits deficient blue color perception in ADHD, resulting from hypofunctioning CNS and retinal dopamine, to which blue cones are exquisitely sensitive. Also, purported sex differences in red color perception were explored. METHODS: 30 young adults diagnosed with ADHD and 30 healthy young adults, matched on age and gender, performed a psychophysical task to measure blue and red color saturation and contrast discrimination ability. Visual function measures, such as the Visual Activities Questionnaire (VAQ) and Farnsworth-Munsell 100 hue test (FMT), were also administered. RESULTS: Females with ADHD were less accurate in discriminating blue and red color saturation relative to controls but did not differ in contrast sensitivity. Female control participants were better at discriminating red saturation than males, but no sex difference was present within the ADHD group. CONCLUSION: Poorer discrimination of red as well as blue color saturation in the female ADHD group may be partly attributable to a hypo-dopaminergic state in the retina, given that color perception (blue-yellow and red-green) is based on input from S-cones (short wavelength cone system) early in the visual pathway. The origin of female superiority in red perception may be rooted in sex-specific functional specialization in hunter-gather societies. The absence of this sexual dimorphism for red colour perception in ADHD females warrants further investigation.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Trastorno por Déficit de Atención con Hiperactividad/psicología , Percepción de Color , Visión de Colores , Dopamina/metabolismo , Retina/metabolismo , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Color , Discriminación en Psicología , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Desempeño Psicomotor/fisiología , Retina/fisiopatología , Células Fotorreceptoras Retinianas Conos/fisiología , Caracteres Sexuales , Adulto JovenRESUMEN
INTRODUCTION: Partial nephrectomy remains the gold standard in the management of small renal masses. However, minimally invasive partial nephrectomy (MIPN) is associated with a steep learning curve, and optimal, standardized techniques for time-efficient hemostasis are poorly described. Given the relative lack of evidence, the goal was to describe a set of actionable guiding principles, through an expert working panel, for urologists to approach hemostasis without compromising warm ischemia or oncological outcomes. METHODS: A three-step modified Delphi method was used to achieve expert agreement on the best practices for hemostasis in MIPN. Panelists were recruited from the Canadian Update on Surgical Procedures (CUSP) Urology Group, which represent all provinces, academic and community practices, and fellowship-and non-fellowship-trained surgeons. Thirty-two (round 1) and 46 (round 2) panellists participated in survey questionnaires, and 22 attended the in-person consensus meeting. RESULTS: An initial literature search of 945 articles (230 abstracts) underwent screening and yielded 24 preliminary techniques. Through sequential survey assessment and in-person discussion, a total of 11 strategies were approved. These are temporally distributed prior to tumor resection (five principles), during tumor resection (two principles), and during renorrhaphy (four principles). CONCLUSIONS: Given the variability in tumor size, depth, location, and vascularity, coupled with limitations of laparoscopic equipment, achieving consistent hemostasis in MIPN may be challenging. Despite over two decades of MIPN experience, limited evidence exists to guide clinicians. Through a three-step Delphi method and rigorous iterative review with a panel of experts, we ascertained a guiding checklist of principles for newly beginning and practicing urologists to reference.
RESUMEN
This article examines the prevalence of moderate and severe problem gambling in a sample of 254 incarcerated Canadian male federal offenders (completion rate of 39.0%). The prevalence of disordered gambling was measured using the PGSI, DSM-IV-TR, and SOGS that yielded estimates of 9.4%, 6.3%, and 13.0%, respectively. Severe problem gamblers were significantly more likely to have committed income producing offences, but were neither more nor less likely than other offenders to have committed violent offences. The majority of severe problem gamblers (65.2%) and a fifth of the moderate problem gamblers (20.0%) reported that their criminal activity was a result of their gambling (e.g., to pay off debts). Based on these findings there appears to be a need to offer problem gambling treatment services to offenders in order to help them break the cycle of gambling, debt and crime.
Asunto(s)
Conducta Adictiva/diagnóstico , Conducta Adictiva/epidemiología , Crimen/estadística & datos numéricos , Juego de Azar/psicología , Prisioneros/estadística & datos numéricos , Adulto , Anciano , Canadá/epidemiología , Crimen/psicología , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Prisiones , Medición de Riesgo/métodos , Estadística como Asunto , Encuestas y CuestionariosRESUMEN
Several lines of evidence from neuroimaging, pharmacology and genetics support the involvement of the dopaminergic system in the etiology of Attention Deficit Hyperactivity Disorder (ADHD). Previous candidate gene studies have investigated the association between a dinucleotide (CA)(n) repeat polymorphism, located 18.5 kb from the start codon of the DRD5 gene, and ADHD. Association between the 148 bp allele and ADHD has been reported in some studies, however replication of the finding has not been consistent. We tested for an association between the (CA)(n) repeat and adult ADHD in a sample comprised of 119 families with adult ADHD probands and 88 unrelated adult ADHD cases with a corresponding number of controls matched for age, ethnicity and sex. In the family sample we found a non-significant trend for association between the 148 bp allele and ADHD (Z=1.91, p=0.055). An excess of non-transmissions was detected for the 150 and 152bp alleles (Z=-2.26, p=0.023; Z=-2.20, p=0.028). Quantitative analysis performed using the Brown Attention Deficit Disorder Scale (BADDS) showed association between the 150 bp allele and lower total score (p=0.011), and lower effort (p=0.008), activation (p=0.008) and attention (p=0.01) cluster scores. We did not replicate association findings in the case-control group, likely due to the lack of statistical power of this sample. Our findings add to the literature suggesting DRD5 (CA)(n) repeat has a modest effect in modulating susceptibility to adult ADHD but further studies are required.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Receptores de Dopamina D5/genética , Adulto , Alelos , Estudios de Casos y Controles , Salud de la Familia , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido SimpleRESUMEN
Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder with a large genetic component that has been shown to persist into adulthood in 30-60% of childhood ADHD cases. Adult ADHD confers an increased risk of ADHD in relatives when compared to childhood ADHD, possibly due to a greater genetic liability than the childhood form. Brain-derived neurotrophic factor (BDNF) is a neurotrophin expressed in the brain throughout life and is involved in survival, differentiation, and synaptic plasticity of several neuronal systems including dopaminergic pathways. Mammalian LIN-7 homolog is selectively expressed in specific neuronal populations and is involved in the postsynaptic density of neuronal synapses. LIN-7 is also a positional candidate, as it lies immediately downstream of BDNF. We tested for association between five BDNF polymorphisms, two LIN-7 polymorphisms and adult ADHD. The sample consisted of 80 trios comprised of an adult ADHD proband and their biological parents and an independent sample of 121 adult ADHD cases and a corresponding number of sex, age, and ethnically matched controls (total 201 probands). Allelic and haplotype association was found between both BDNF and adult ADHD, and LIN-7 and adult ADHD. HapMap indicates BDNF and LIN-7 occur in different haplotype blocks, though some linkage disequilibrium exists between the SNPs in these adjacent genes. Further investigations into the pathologic mechanisms of BDNF and LIN-7 in adult ADHD are required.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Factor Neurotrófico Derivado del Encéfalo/genética , Proteínas de la Membrana/genética , Proteínas Adaptadoras Transductoras de Señales , Adulto , Estudios de Casos y Controles , Familia , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Proteínas de Transporte VesicularRESUMEN
Childhood attention deficit hyperactivity disorder (ADHD) symptomatology persists in a substantial proportion of cases into adult life. ADHD is highly heritable but the etiology of ADHD is complex and heterogeneous, involving both genetic and non-genetic factors. In the present article we analyzed the influence of both genetics and adverse life events on severity of ADHD symptoms in 110 adult ADHD patients. Subjects were genotyped for the norepinephrine transporter (NET), the catechol-O-methyltransferase (COMT), the serotonin transporter promoter polymorphism (SERTPR) and the more rare A/G variant within SERTPR. Three main outcomes were obtained: (1) adverse events showed a small but positive correlation with current ADHD severity; (2) NET, COMT and the A/G variant within SERTPR were not associated with ADHD severity; (3) taking into account stressors, the long (L) SERTPR variant showed a mild effect on ADHD, being associated with an increased severity, particularly as regard affective dysregulations; on the other hand, in subjects exposed to early stressors, it showed a protective effect, as compared to the short (S) variant. In conclusion, our data support the role of environmental factors in adult ADHD symptomatology. SERTPR may be involved in some features of the illness and act as a moderator of environmental influences in ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Acontecimientos que Cambian la Vida , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Adolescente , Adulto , Catecol O-Metiltransferasa/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Transporte de Noradrenalina a través de la Membrana Plasmática/genética , Polimorfismo Genético , Regiones Promotoras Genéticas , Análisis de Regresión , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
BACKGROUND: Dopaminergic neurotransmission is implicated in externalizing behavior problems, such as aggression and hyperactivity. Externalizing behavior is known to be negatively associated with cognitive ability. Activation of dopamine D4 receptors appears to inhibit the functioning of the prefrontal cortex, a brain region implicated in cognitive ability. The 7-repeat allele of the dopamine D4 receptor gene produces less efficient receptors, relative to other alleles, and this may alter the effects of dopamine on cognitive function. OBJECTIVE: To examine the influence of a polymorphism in the third exon of the dopamine D4 receptor gene on the association between externalizing behavior and IQ. DESIGN: In 1 community sample and 2 clinical samples, the presence or absence of the 7-repeat allele was examined as a moderator of the association between externalizing behavior and IQ; the strength of this effect across samples was estimated meta-analytically. PATIENTS: Eighty-seven boys from a longitudinal community study, 48 boys referred clinically for aggression, and 42 adult males diagnosed with attention-deficit/hyperactivity disorder. MAIN OUTCOME MEASURES: IQ scores and observer ratings of externalizing behavior were taken from existing data sets. RESULTS: Among individuals lacking the 7-repeat allele, externalizing behavior was negatively correlated with IQ (mean r = -0.43; P<.001). Among individuals having at least 1 copy of the 7-repeat allele, externalizing behavior and IQ were uncorrelated (mean r = 0.02; P = .45). The difference between these correlations was significant (z = -2.99; P<.01). CONCLUSIONS: Allelic variation of the dopamine D4 receptor gene appears to be a genetic factor moderating the association between externalizing behavior and cognitive ability. This finding may help to elucidate the adaptive value of the 7-repeat allele.
Asunto(s)
Agresión/psicología , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastornos de la Conducta Infantil/genética , Inteligencia/genética , Polimorfismo Genético , Corteza Prefrontal/fisiología , Receptores de Dopamina D4/genética , Adolescente , Adulto , Alelos , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/psicología , Preescolar , Genotipo , Humanos , Inteligencia/clasificación , Masculino , Persona de Mediana Edad , Inventario de Personalidad/estadística & datos numéricos , Receptores de Dopamina D4/fisiología , Secuencias Repetidas en Tándem/genética , Escalas de Wechsler/estadística & datos numéricosRESUMEN
OBJECTIVE: The purpose of this study was to evaluate the comparative efficacy and safety of a novel long-duration multilayer-release (MLR) methylphenidate (MPH) formulation and immediate-release (IR) MPH in attention-deficit/hyperactivity disorder (ADHD) children. PATIENTS AND METHODS: This study was a randomized, double-blind, crossover comparison of once-daily MLR and twice-daily IR-MPH in home and school settings in children with a Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) diagnosis of ADHD. Patients completed a 1-week baseline followed by two active medication titration phases. Each phase of treatment was 1-4 weeks of titration with an additional stable dose week. The final dose was based on efficacy and adverse events for each patient. Efficacy measures included Clinical Global Impressions (CGI) and Conners' Parent and Teacher Rating Scales (CPRS and CTRS). The Clinical Assessment of Side Effects (CASE) scale assessed frequency of adverse events. RESULTS: Of the 90 enrolled patients, aged 6.4-17.5 years, 79 (88%) completed the study. Stable daily doses were 32.0 and 32.5 mg for MLR and IR-MPH, respectively. All efficacy parameters were significantly improved from baseline. A total of 73.2% and 81.0% of patients on MLR and IR-MPH were rated as "much" or "very much improved" on the CGI. A total of 77.4% and 81.1% of patients were normalized on the CPRS-R and 78.9 and 90.4% of patients were normalized on the CTRS-R for MLR and IR-MPH, respectively. The mean CASE score was not different from baseline for either treatment.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Estimulantes del Sistema Nervioso Central/administración & dosificación , Estimulantes del Sistema Nervioso Central/uso terapéutico , Metilfenidato/administración & dosificación , Metilfenidato/uso terapéutico , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/psicología , Estimulantes del Sistema Nervioso Central/efectos adversos , Niño , Estudios Cruzados , Interpretación Estadística de Datos , Preparaciones de Acción Retardada , Método Doble Ciego , Femenino , Humanos , Masculino , Metilfenidato/efectos adversos , Escalas de Valoración Psiquiátrica , Resultado del TratamientoRESUMEN
BACKGROUND: The objective of the current study was to examine performance and correlates of performance on a decision-making card task involving risky choices (Iowa Gambling Task) in adolescents with ADHD and comparison controls. Forty-four participants with ADHD and 34 controls were administered measures of estimated intellectual ability, working memory, and the card task. Also, behavioural ratings were obtained from parents and teachers. RESULTS: Adolescents with ADHD scored lower on the measures of intellectual ability, working memory, and made less advantageous selections on the card task compared to controls. Performance on measures of intellectual ability and working memory were unrelated to card task performance in both the ADHD and control samples. Parent ratings of hyperactivity/impulsivity were significantly associated with card task performance in the adolescents with ADHD, but not in controls. CONCLUSION: These findings demonstrate impaired decision-making in adolescents with ADHD, and the separability of motivational and executive function processes, supporting current dual pathway models of ADHD.
RESUMEN
Attention deficit hyperactivity disorder (ADHD) is a prevalent psychiatric condition in children and follow up studies have indicated that 22-33% of patients continue to suffer from ADHD during late adolescence and adulthood. The action of psychostimulant drugs may be determined by additional mechanisms beyond the dopamine transporter and receptors. We are exploring new methodology for discovering these mechanisms. For example, in Drosophila, such an additional determinant of psychostimulant action could be protein kinase G (PKG) that affects food-search behavior. Here we initiated studies with the human homologue of PKG, the PRKG1 gene. The aim of this study was to investigate for the presence of linkage disequilibrium between the protein kinase G gene (PRKG1) and adult ADHD in a sample of nuclear families. Genotyping data for the C2276T polymorphism were analyzed using the Transmission Disequilibrium Test (TDT). Sixty three nuclear families were informative for the TDT on C2276T polymorphism, which showed no preferential transmission of either allele (chi-square = 0.778, df = 1, p = 0.316). These findings exclude a direct involvement of this genetic marker of the Protein kinase G gene in the pathogenesis of ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Proteínas Quinasas Dependientes de GMP Cíclico/genética , Drosophila melanogaster/genética , Desequilibrio de Ligamiento/genética , Animales , Proteínas Quinasas Dependientes de GMP Cíclico/metabolismo , Análisis Mutacional de ADN , Modelos Animales de Enfermedad , Drosophila melanogaster/enzimología , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Pruebas Genéticas , Genotipo , Humanos , Polimorfismo Genético/genéticaRESUMEN
Numerous lines of evidence have shown that attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder, whether it is considered as a category or a dimension. We tested for an association between the dopamine transporter gene (DAT1) and ADHD considering the disorder as categorical as well as a continuous trait. Genotypes for the DAT1 variable number of tandem repeat (VNTR) alleles, along with Brown Attention Deficit Disorder Scale (BADDS) and Wender Utah Rating Scale (WURS) scores were available for 152 adult ADHD patients. In 72 of these patients DNAs from at least one parent were accessible to perform a family-based analysis (FBAT). The mean quantitative trait values of the whole sample of singleton patients were compared among the specific genotype groups using ANOVA. The family-based analysis did not reveal any association between DAT1 alleles and ADHD either when it was considered as a dichotomous trait (Z = 0.16, p =.86) or as a continuous trait (Wender Scale Z = -1.67, p =.09; Brown ADD Scale Z = 0.28, p =.77). No significant differences were detected in the mean symptom scores among the specific genotype groups. The results from our study do not support a major role for the DAT1 VNTR alleles in our sample of adult ADHD. In view of several positive reports in child ADHD, more work is required to elucidate the potential role of the DAT1 VNTR as a risk factor in ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Encéfalo/metabolismo , Dopamina/metabolismo , Predisposición Genética a la Enfermedad/genética , Glicoproteínas de Membrana , Proteínas de Transporte de Membrana/genética , Proteínas del Tejido Nervioso , Sitios de Carácter Cuantitativo/genética , Adulto , Anciano , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Encéfalo/fisiopatología , Mapeo Cromosómico , Análisis Mutacional de ADN , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Humanos , Desequilibrio de Ligamiento/genética , Masculino , Persona de Mediana Edad , Mutación/genética , Fenotipo , Factores Sexuales , Secuencias Repetidas en Tándem/genéticaRESUMEN
Numerous family, twin and adoption studies have reported a strong genetic component for attention deficit hyperactivity disorder (ADHD). In addition, an extensive amount of literature has implicated abnormalities of the dopaminergic system. In view of this evidence, genes that influence dopaminergic transmission have become prime candidates for molecular genetic investigations of ADHD. There are currently three studies (Daly et al., 1999; Roman et al., 2002; Wigg et al., 2002) that have found an association between the dopamine beta-hydroxylase gene (DBH) TaqI 2 allele and childhood ADHD. As such, we tested for association of the DBH TaqI 2 allele in two independent samples of patients with the persistent variant of ADHD. These consisted of 97 nuclear families, and 112 adult cases with controls carefully matched according to gender, age and ethnicity. Transmission Disequilibrium Test analysis revealed weak over-transmission of the 2 allele (35 transmissions versus 27 non-transmissions; chi2 = 1.03, 1 degree of freedom, P=0.31). The case-control sample did not support previous findings since the 2 allele was more frequent in our control sample (137 versus 116; chi2 = 3.63, 1 degree of freedom, P=0.057). Taken together, these results do not provide support for a role of the DBH TaqI marker in our persistent ADHD samples.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Dopamina beta-Hidroxilasa/genética , Desequilibrio de Ligamiento , Etnicidad , Femenino , Humanos , Masculino , Valores de ReferenciaRESUMEN
Convincing data support the hypothesis that genetic factors are involved in the etiology of attention-deficit hyperactivity disorder (ADHD). Various lines of evidence have shown that the dopamine system plays a crucial role in the pathophysiology of ADHD. The dopamine D3 receptor gene (DRD3) represents a promising candidate to examine in ADHD. Animal studies have shown that DRD3 mRNA is highly expressed in the ventral striatum suggesting an involvement of this receptor in the control of motor behaviour. Manipulation of DRD3 in rodents has led to a mouse model with nonfunctional D3 receptors that displays hyperactive behaviour in various environmental conditions. Furthermore, administration of 7-OH-DPAT, a dopaminergic agonist that binds preferentially to D3 receptors exerts an inhibitory effect on locomotor activity while D3 antagonists induce hyperactivity. Among various polymorphisms described for DRD3, the BalI polymorphism is most interesting because it codes for an aminoacid substitution in the N-terminus of the receptor. The receptor products of the two alleles (Ser/Gly) exhibit differential affinity for dopamine. To determine if DRD3 Ser9/Gly is involved in the susceptibility to ADHD we genotyped 39 adults with ADHD and their respective parents (trios). Adult ADHD represents a promising phenotype for studying the genetic component of the disorder. In fact, a recent family study has shown that relatives of adult ADHD patients have a higher rate of ADHD compared to relatives of children with ADHD suggesting a stronger genetic component for the adult version. The results of genotyping in the 39 trios analyzed with the transmission disequilibrium test showed no excess of transmission for DRD3 MscI/BalI alleles (chi(2) = 0.360; df = 1; P = 0.54). This result, although from a relatively small sample, indicates that it is unlikely that DRD3 is playing a major role in the etiology of ADHD in our sample.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Receptores de Dopamina D2/genética , Adulto , Alelos , ADN/genética , Genotipo , Humanos , Mutación/genética , Mutación/fisiología , Polimorfismo Genético/genética , Receptores de Dopamina D3RESUMEN
PURPOSE: The purpose of this study is to examine the relationships among self-reported screening measures of attention deficit hyperactivity disorder (ADHD), other psychiatric problems, and driving-related outcomes in a provincially representative sample of adults 18 years and older living in the province of Ontario, Canada. METHODS: The study examined the results of the Centre for Addictions and Mental Health (CAMH) Ontario Monitor, an ongoing repeated cross-sectional telephone survey of Ontario adults over a 2-year period. Measures included ADHD measures (Adult ADHD Self-Report Scale-V1.1 [ASRS-V1.1], previous ADHD diagnosis, ADHD medication use); psychiatric distress measures (General Health Questionnaire [GHQ12], use of pain, anxiety, and depression medication); antisocial behavior measure (The Antisocial Personality Disorder Scale from the Mini-International Neuropsychiatric Interview [APD]); substance use and abuse measures (alcohol, cannabis, and cocaine), Alcohol Use Disorders Identification Test (AUDIT), Alcohol, Smoking and Substance Involvement Screening Test (ASSIST), driving-related outcomes (driving after drinking, driving after cannabis use, street racing, collisions in past year), and sociodemographics (gender, age, vehicle-kilometers traveled). RESULTS: A total of 4,014 Ontario residents were sampled, of which 3,485 reported having a valid driver's license. Overall, 3.22% screened positive for ADHD symptoms on the ASRS-V1.1 screening tool. A greater percentage of those who screened positive were younger, reported previous ADHD diagnosis and medication use, distress, antisocial behavior, anti-anxiety and antidepressant medication use, substance use, and social problems compared to those who screened negative. However, there were no statistically significant differences between those who screened positive or negative for ADHD symptoms on self-reported driving after having 2 or more drinks in the previous hour; within an hour of using cannabis, marijuana, or hash; or in a street race or collision involvement as a driver in the past year. When a sequential regression was conducted to predict self-reported collisions, younger age and higher weekly kilometers driven showed higher odds of collision involvement, and the odds ratio for cannabis use ever approached statistical significance. DISCUSSION: This study is the first population-based study of a representative sample of adults 18 years and older living in Ontario, Canada. These results showed no relationship between the ADHD screen and collision when age, sex, and kilometers driven are controlled for. However, these analyses are based on self-report screeners and not psychiatric diagnoses and a limited sample of ADHD respondents. Thus, these results should be interpreted with caution.
Asunto(s)
Accidentes de Tránsito/estadística & datos numéricos , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Conducción de Automóvil/psicología , Trastornos Mentales/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Adolescente , Adulto , Anciano , Consumo de Bebidas Alcohólicas/epidemiología , Trastorno de Personalidad Antisocial/epidemiología , Conducción de Automóvil/estadística & datos numéricos , Comorbilidad , Estudios Transversales , Femenino , Humanos , Masculino , Abuso de Marihuana/epidemiología , Persona de Mediana Edad , Ontario/epidemiología , Autoinforme , Adulto JovenRESUMEN
BACKGROUND: An open-label pilot study of individualized homeopathy for attention deficit hyperactivity disorder (ADHD) was conducted to assess the potential for future studies with a focus on the feasibility of the recruitment plan and outcome measure schedules; identification of any group characteristics of participants who respond significantly to the therapy; and establishing the length of time required for an improvement in ADHD symptoms. PATIENTS AND METHODS: Participants (aged 6-16) were recruited through community advertisement and outreach. Participants completed 1 screening and 9 individualized homeopathic follow-up consultations. ADHD symptoms were assessed using the Conners 3 - Parent Questionnaire administered at each consultation. The pre- and post-study difference in Conners Global Index - Parent (CGI-P) T-score was evaluated for each participant. Baseline data of those who showed a statistically significant improvement (responders) were compared to those who did not (non-responders). RESULTS: 35 participants were enrolled over 11 months. 80% completed all 10 consultations in a median of 12.1 months. 63% had a statistically significant improvement in the primary outcome, first occurring after a mean of 4.5 visits. Overall scores for participants completing at least 2 data points decreased from a baseline median of 85.5 to 74.0 (p < 0.001, CI 95%). There were no significant baseline differences between responders and non-responders. No serious adverse events related to the therapy were reported. CONCLUSION: The change in the median CGI-P T-score from baseline to the end of this open-label pilot study was statistically significant. The research methods are feasible. Future studies are warranted. TRIAL REGISTRATION: NCT01141634.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/terapia , Materia Medica/uso terapéutico , Adolescente , Niño , Femenino , Humanos , Masculino , Materia Medica/administración & dosificación , Materia Medica/efectos adversos , Proyectos Piloto , Resultado del TratamientoRESUMEN
OBJECTIVES: Although sleep disorders have been reported to affect more than half of adults with attention-deficit/hyperactivity disorder (ADHD), the association between sleep and ADHD is poorly understood. The aims of our study were to investigate sleep-related variables in adults with ADHD and to assess if any differences exist between ADHD of the predominantly inattentive (ADHD-I) and combined (ADHD-C) subtypes. METHODS: We used the Epworth sleepiness scale (ESS), the Pittsburgh Sleep Quality Index (PSQI), and the fatigue severity scale (FSS) to collect data on daytime sleepiness, sleep quality, and fatigue in 126 subjects (45 ADHD-I and 81 ADHD-C subjects). RESULTS: Approximately 85% of subjects reported excessive daytime sleepiness or poor sleep quality. The most common sleep concerns were initial insomnia, interrupted sleep, and feeling too hot. When examining ADHD subtype differences, ADHD-I subtypes reported poorer sleep quality and more fatigue than ADHD-C subtypes. Partial correlation analyses revealed that interrelationships between sleep quality, daytime sleepiness, and fatigue differ between ADHD subtypes; in ADHD-I subtypes fatigue was associated with sleep quality, while in the ADHD-C subtypes fatigue was associated with both sleep quality and daytime sleepiness. There also appears to be a subtype×gender interaction that affects the perception of fatigue, as subjective fatigue was markedly higher in ADHD-I women than in ADHD-C women. CONCLUSION: Altogether our data indicate that the interplay of variables associated with daytime function and sleep varies between ADHD subtypes. This finding may have considerable relevance in the management and pathophysiologic understanding of ADHD, and thus lead to tailored treatments for ADHD subtypes.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/clasificación , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastornos de Somnolencia Excesiva/complicaciones , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Sueño/fisiología , Adulto , Nivel de Alerta/fisiología , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Trastornos de Somnolencia Excesiva/fisiopatología , Fatiga/complicaciones , Fatiga/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Trastornos del Inicio y del Mantenimiento del Sueño/fisiopatología , Adulto JovenRESUMEN
The understanding that sleep can give rise to, or exacerbate symptoms of attention-deficit/hyperactivity disorder (ADHD), and that good sleep hygiene improves attention and concentration tasks has sparked interest in the investigation of possible etiological relationships between sleep disorders and ADHD. Studies indicate that 30% of children and 60-80% of adults with ADHD have symptoms of sleep disorders such as daytime sleepiness, insomnia, delayed sleep phase syndrome, fractured sleep, restless legs syndrome, and sleep disordered breathing. The range and diversity of findings by different researchers have posed challenges in establishing whether sleep disturbances are intrinsic to ADHD or whether disturbances occur due to co-morbid sleep disorders. As a result, understanding of the nature of the relationship between sleep disturbances/disorders and ADHD remains unclear. In this review, we present a comprehensive and critical account of the research that has been carried out to investigate the association between sleep and ADHD, as well as discuss mechanisms that have been proposed to account for the elusive relationship between sleep disturbances, sleep disorders, and ADHD.