RESUMEN
PURPOSE: If a positive family history of seizures plays a significant role that contributes to the risk for developing psychogenic nonepileptic seizures (PNES) by means of model learning, one would expect that patients with PNES with a family history of seizures show a different semiology than those without such a history. We investigated whether the above hypothesis is valid. METHODS: In this retrospective study, all patients with PNES, who were diagnosed at Shiraz Comprehensive Epilepsy Center at Shiraz University of Medical Sciences, Iran, from 2008 until 2019, were investigated. Demographic and clinical characteristics were compared between patients with a positive family history of seizures and those without such a history RESULTS: During the study period, 274 patients with PNES-only had the inclusion criteria. Seventy-seven (28%) patients had a positive family history of seizures and 197 (72%) patients did not have such a history. There were no significant demographic or clinical differences between the two groups. CONCLUSION: It seems that a positive family history of seizures and model learning does not play a significant role in the development of PNES. Investigators should explore other potentially significant contributors and risk factors for developing PNES in future studies.
Asunto(s)
Anamnesis , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/genética , Convulsiones/diagnóstico , Convulsiones/genética , Adolescente , Adulto , Anciano , Niño , Estudios de Cohortes , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/epidemiología , Epilepsia/genética , Femenino , Humanos , Irán/epidemiología , Masculino , Anamnesis/métodos , Persona de Mediana Edad , Trastornos Psicofisiológicos/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Convulsiones/epidemiología , Adulto JovenRESUMEN
This study aimed to evaluate the attention and inhibitory control functions in patients with genetic generalized epilepsy (GGE) and psychogenic nonepileptic seizure (PNES) and compare the results with the healthy control subjects. A total of 30 patients with GGE, 30 patients with PNES, and 32 healthy control subjects were included in the study. The severity of attention and inhibitory control deficit, general intelligence status, and psychopathology screening in all subjects were respectively investigated with the Integrated Visual and Auditory Continuous Performance Test (IVA-CPT), the Wechsler Adult Intelligence Scale (WAIS), and the Symptoms Checklist 90-revised (SCL-90-R). Patients with PNES had severe impairments in all performed tasks compared with the control group and the group with GGE (pâ¯<â¯0.01), whereas patients with GGE had significantly lower attention quotient versus healthy subjects (pâ¯<â¯0.01). The full-scale attention quotient (FSAQ) and full-scale response control quotient (FSRCQ) in patients with PNES were significantly lower in comparison with GGE (47.83⯱â¯32.68, 60.18⯱â¯35.35, pâ¯<â¯0.01), respectively. Multiple regression analysis did not demonstrate any significant effect of seizure frequency or epilepsy duration on attention and inhibitory control deficits, but patient's intelligence quotient (IQ) showed a significant effect on FSAQ and FSRCQ (ß: 0.997, pâ¯<â¯0.001; ß: 0.933, pâ¯<â¯0.001, respectively). Attention and inhibitory control are significantly impaired in patients with GGE and PNES. The cognitive deficits in patients with GGE and PNES have potentially important clinical implications in planning their neuropsychological rehabilitation.
Asunto(s)
Atención/fisiología , Epilepsia Generalizada/psicología , Inhibición Psicológica , Trastornos Psicofisiológicos/psicología , Convulsiones/psicología , Adulto , Estudios Transversales , Electroencefalografía/métodos , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/fisiopatología , Convulsiones/genética , Convulsiones/fisiopatología , Adulto JovenRESUMEN
INTRODUCTION: Because the level of stress is rather high among medical students, it would be important to prepare them for preventing it. AIM: The aim of the authors was to investigate the perceived stress level of medical students, their psychosomatic symptoms, coping strategies and satisfaction with life. METHOD: Preclinical medical students from the University of Szeged, Hungary (N = 155) participated in the study. Data collection was performed by groups, in self-administered, anonymous and voluntary form. RESULTS: Levels of stress load and satisfaction with life among medical students were similar to previous international and national data. There were no gender differences in the levels of life satisfaction, however, levels of perceived stress and psychosomatic symptoms were higher among girls. Satisfaction with life was primarily related to perceived stress level and the coping methods. CONCLUSIONS: The results suggest that there are significant interrelationships among in the levels of perceived stress, psychosomatic symptoms and coping styles among in preclinical students. During medical education there is also a need for improving skills, such as coping and stress management.
Asunto(s)
Adaptación Psicológica , Educación de Pregrado en Medicina , Satisfacción Personal , Trastornos Psicofisiológicos/epidemiología , Calidad de Vida , Estrés Psicológico/epidemiología , Estudiantes de Medicina/psicología , Estudiantes de Medicina/estadística & datos numéricos , Adulto , Análisis Factorial , Femenino , Humanos , Hungría/epidemiología , Masculino , Solución de Problemas , Trastornos Psicofisiológicos/genética , Asunción de Riesgos , Autoinforme , Apoyo Social , Estrés Psicológico/complicaciones , Estrés Psicológico/etiología , Estrés Psicológico/psicología , Encuestas y Cuestionarios , Adulto JovenRESUMEN
General practitioners are regularly called to evaluate the psychological work capacity of patients. The implicit motivation behind the explicit reason for requesting a sick leave is linked to the subject's history and the way he transfers it in his professional life. An incapacity to work harbours a variety of challenges for the patient, the physician and their relationship. In order to get a better understanding of all the issues at stake, the doctor should understand the significances that represents the work to the patient and the consequences of a sick leave and its associated transference and countertransference issues.
Asunto(s)
Determinación de la Elegibilidad , Médicos Generales , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , Ausencia por Enfermedad , Adulto , Agotamiento Profesional/complicaciones , Contratransferencia , Empleo , Femenino , Predisposición Genética a la Enfermedad , Humanos , Relaciones Médico-Paciente , Trastornos Psicofisiológicos/genética , Factores de Riesgo , Transferencia PsicológicaRESUMEN
This review gives an overview on recent psychodynamic concepts of depression and contrasts them with recent bio-psycho-social and genetic approaches on the aetiopathogenesis of depression. The implication of current findings from these disciplines is discussed in the context of interventional strategies and clinical praxis.
Asunto(s)
Trastorno Depresivo/diagnóstico , Trastorno Depresivo/psicología , Emociones , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , Niño , Niño Abandonado/psicología , Preescolar , Trastorno Depresivo/genética , Trastorno Depresivo/terapia , Interacción Gen-Ambiente , Humanos , Lactante , Relaciones Madre-Hijo , Apego a Objetos , Teoría Psicoanalítica , Terapia Psicoanalítica , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/terapia , Factores de RiesgoRESUMEN
Psychosomatic disorders are composed of an array of psychological, biologic, and environmental features. The existing evidence points to a role for genetic factors in explaining individual differences in the development and maintenance of a variety of disorders, but studies to date have not shown consistent and replicable effects. As such, the attempt to uncover individual differences in the expression of psychosomatic disorders as a function of genetic architecture requires careful attention to their phenotypic architecture or the various intermediate phenotypes that make up a heterogeneous disorder. Ambulatory monitoring offers a novel approach to measuring time-variant and situation-dependent intermediate phenotypes. Recent examples of the use of ambulatory monitoring in genetic studies of stress reactivity, chronic pain, alcohol use disorders, and psychosocial resilience are reviewed in an effort to highlight the benefits of ambulatory monitoring for genetic study designs.
Asunto(s)
Monitoreo Ambulatorio , Trastornos Psicofisiológicos/genética , Medicina Psicosomática , Proyectos de Investigación , Autoinforme , Alcoholismo/genética , Alcoholismo/fisiopatología , Estudios de Asociación Genética/métodos , Humanos , Individualidad , Percepción del Dolor/fisiología , Fenotipo , Resiliencia Psicológica , Estrés Psicológico/genética , Estrés Psicológico/fisiopatologíaRESUMEN
BACKGROUND: Palatal tremor is characterized by rhythmic movements of the soft palate and can be essential or symptomatic. Some patients can have palatal movements as a special skill or due to palatal tics. Psychogenic palatal tremor is recognized but rarely reported in the literature. METHODS: We retrospectively evaluated all patients with palatal tremor seen in our center over a period of 10 years. RESULTS: Of 17 patients with palatal tremor, we identified 10 patients with isolated palatal tremor. In 70% of those the diagnosis of psychogenic palatal tremor could be made. Of the remainder, 2 had palatal tics and 1 essential palatal tremor. CONCLUSIONS: We suggest that psychogenic palatal tremor may be underrecognized and propose that targeted clinical examination of positive signs for psychogenic movement disorders in these patients is essential. The correct identification of such patients has important clinical and scientific implications.
Asunto(s)
Músculos Palatinos/fisiopatología , Trastornos Psicofisiológicos/fisiopatología , Temblor/fisiopatología , Adulto , Edad de Inicio , Antidiscinéticos/uso terapéutico , Toxinas Botulínicas Tipo A/uso terapéutico , Terapia Cognitivo-Conductual , Electromiografía , Femenino , Proteína Ácida Fibrilar de la Glía/genética , Humanos , Masculino , Trastornos Mentales/complicaciones , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/genética , Tics/etiología , Temblor/diagnóstico , Temblor/genéticaRESUMEN
The author gives a short account on the principles of Selye's stress theory, and discusses similarities and dissimilarities of acute and chronic stress. Both the external, and the internal environment, as well as the psycho-mental status are involved in the notion of the environment. Basic principles of epigenetics are reviewed: interaction between environment and genes, neuroendocrine and enzymatic mechanisms involved in silencing and activation of genes, notions of phenotypic plasticity, and epigenetic reprogramming are discussed. Epigenetic mechanisms of interrelation between pathological clinical states (diseases) and the characteristic phenotypes, causative role of psycho-mental status in evoking pathological somatic alterations, and the potential therapeutic consequences are briefly discussed. The etiological role of chronic, civilization stress in producing the worldwide increment of cardiovascular morbidity is cited, argumentation and criticism of the current therapeutical practice is discussed. The author concludes that recent advances in epigenetic knowledge seem to solve the controversy between the academic and theological sciences.
Asunto(s)
Enfermedades Cardiovasculares , Epigénesis Genética , Trastornos Psicofisiológicos , Estrés Psicológico/complicaciones , Estrés Psicológico/genética , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/psicología , Enfermedad Crónica , Epigenómica , Silenciador del Gen , Humanos , Morbilidad , Fenotipo , Trastornos Psicofisiológicos/epidemiología , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/psicología , Teología , Activación TranscripcionalRESUMEN
Eating disorders and, in particular, anorexia nervosa (AN) have morbidity and mortality rates that are among the highest of any mental disorders and are associated with significant functional impairment. More than 25 years ago, several researchers hypothesised that the prerequisite for the development of AN was a family process characterised by an overprotective and conflict-avoiding parent-child interaction. Family studies, however, suggest that AN is a complex genetic disorder that is likely expressed primarily by temperament and specific traits during childhood, including inhibition, perfectionism and harm avoidance. Recent studies have described an impaired flexibility and deficits in social cognition that are independent of body weight and the current state of the eating disorder, providing further evidence for a genetic component of AN. The physiological and psychological alterations and the increasing societal demands that occur during puberty may trigger onset. The starvation process itself is associated with severe alterations of central and peripheral metabolism, especially neuroendocrine and neurotransmitter changes, which are thought to affect the adolescent brain during the vulnerable period of neural restructuring. Long-standing malnutrition during adolescence and young adulthood associated with hormonal and neuropeptide dysfunctions may produce "biological scars" that maintain and accelerate the disorder and likely result in chronic mental disorders in adulthood as well as poor social functioning.
Asunto(s)
Anorexia Nerviosa/psicología , Encéfalo/fisiopatología , Desarrollo Infantil , Familia/psicología , Personalidad , Trastornos Psicofisiológicos/psicología , Adolescente , Adulto , Anorexia Nerviosa/genética , Anorexia Nerviosa/fisiopatología , Niño , Humanos , Trastornos Psicofisiológicos/genética , Adulto JovenRESUMEN
This review focuses first on conceptual chaos and different connotations in psychosomatic medicine, then on new perspectives on comorbidity and multimorbidity, especially from epigenetics perspective. Comorbidity is one of the greatest research and clinical challenges to contemporary psychiatry and psychosomatic medicine. Recently altered gene expression due to epigenetic regulation has been implicated in the development of multifarious mental disorders and somatic diseases. The potential relevance of epigenetics for better understanding and more successful treatment of comorbidity and multimorbidity is described.
Asunto(s)
Epigénesis Genética/genética , Trastornos Mentales/epidemiología , Trastornos Mentales/genética , Trastornos Psicofisiológicos/epidemiología , Trastornos Psicofisiológicos/genética , Carácter , Comorbilidad , Daño del ADN/genética , Daño del ADN/fisiología , Regulación de la Expresión Génica/genética , Predisposición Genética a la Enfermedad/genética , Homocisteína/sangre , Humanos , Trastornos Mentales/fisiopatología , Relaciones Metafisicas Mente-Cuerpo/fisiología , Red Nerviosa/fisiopatología , Fenotipo , Trastornos Psicofisiológicos/fisiopatología , Factores de RiesgoAsunto(s)
Trastornos Psicofisiológicos , Trastornos Somatomorfos , Humanos , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/fisiopatología , Trastornos Psicofisiológicos/psicología , Trastornos Somatomorfos/genética , Trastornos Somatomorfos/fisiopatología , Trastornos Somatomorfos/psicologíaRESUMEN
OBJECTIVE: Functional somatic syndromes commonly occur together, share a genetic component and are associated with numerous somatic symptoms. This study aimed to determine if genetic variation in two neuroendocrine systems, the serotoninergic system and the hypothalamic-pituitary-adrenal (HPA) axis, was associated with the number of reported somatic symptoms. METHODS: This population-based cohort study (Epidemiology of Functional Disorders) recruited participants from three primary care registers in the northwest of England. Somatic symptoms, anxiety, depression, and pain were assessed using the Somatic Symptoms Checklist, Hospital Anxiety and Depression scales, and body manikins, respectively, via a postal questionnaire. Tag Single Nucleotide Polymorphisms (SNPs) (r(2)>0.8) were selected for serotoninergic system genes (TPH2, SLC6A4 and HTR2A) and HPA axis genes (CRH, CRHR1, CRHBP, MC2R, POMC, NR3C1, and SERPINA6) and genotyped using Sequenom technology. Negative binomial regression was used to test for association between SNPs and the number of somatic symptoms. Stepwise-regression was used to identify independent effects and adjustments were made for anxiety, depression, and pain. RESULTS: A total of 967 subjects were successfully genotyped for 143 (87%) SNPs. Multiple SNP associations with the number of somatic symptoms were observed in HTR2A and SERPINA6 as well as two SNPs in TPH2. Stepwise regression identified two effects in HTR2A and a single effect in TPH2 which were independent of anxiety, depression, and pain. A single effect was also identified in SERPINA6 but was no longer significant when adjusted for pain. CONCLUSION: This study finds association of SNPs in HTR2A, SERPINA6, and TPH2 with somatic symptoms implicating them as potentially important in the shared genetic component to functional somatic syndromes, although replication is required.
Asunto(s)
Variación Genética/genética , Trastornos Psicofisiológicos/genética , Trastornos Somatomorfos/genética , Adulto , Anciano , Ansiedad/diagnóstico , Ansiedad/genética , Ansiedad/fisiopatología , Estudios de Cohortes , Depresión/diagnóstico , Depresión/genética , Depresión/fisiopatología , Inglaterra , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Sistema Hipotálamo-Hipofisario/metabolismo , Sistema Hipotálamo-Hipofisario/fisiopatología , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Sistema Hipófiso-Suprarrenal/metabolismo , Sistema Hipófiso-Suprarrenal/fisiopatología , Polimorfismo de Nucleótido Simple/genética , Escalas de Valoración Psiquiátrica , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/fisiopatología , Análisis de Regresión , Serotonina/metabolismo , Trastornos Somatomorfos/diagnóstico , Trastornos Somatomorfos/fisiopatología , Encuestas y CuestionariosRESUMEN
BACKGROUND: Comorbidity studies have shown that depression and somatization (multiple somatoform symptoms) often overlap. Therefore it has been suggested to classify at least some patients with somatization syndromes under the category of depressive disorders. We wanted to investigate whether psychobiological investigations confirm the lumping of somatization and depression, or whether psychobiological pathways favor distinguishing these disorders. METHOD: An overview is presented summarizing psychobiological studies including patients with depression and/or somatization-associated syndromes. We focus on the following topics: heritability, polymorphisms in special candidate genes, immune activation, hypothalamic-pituitary-adrenal (HPA) axis reactivity, serotonergic pathways, monoamino acids, and fatty acid concentrations. RESULTS: Immunological activation seems to be associated with specific features of somatoform disorders, namely, sickness behavior and pain thresholds. Genetic factors can also contribute to somatic complaints, e.g., via serotonergic pathways, HPA-axis response, immune activation, and other biological systems that contribute to the self-description of not being healthy. Some results indicate that psychobiological aspects of depression and somatization overlap in part (e.g., the relevance of serotonergic pathways), but there is clearly more evidence for discrepancies of psychobiological pathways in depression and somatization (e.g., the relevance of proinflammatory immune processes; HPA-axis activity; monoamino acid availability; omega-3-concentration; the role of triallelic subtypes of 5-HTTLPR). CONCLUSION: Many psychobiological pathways act differently in depression and somatization. These differences in psychobiology favor the distinction of these syndromes in classification approaches.
Asunto(s)
Trastorno Depresivo/psicología , Trastornos Psicofisiológicos/psicología , Trastornos Somatomorfos/psicología , Trastorno Depresivo/genética , Trastorno Depresivo/inmunología , Humanos , Sistema Hipotálamo-Hipofisario/inmunología , Conducta de Enfermedad , Sistema Hipófiso-Suprarrenal/inmunología , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/inmunología , Serotonina/inmunología , Trastornos Somatomorfos/genética , Trastornos Somatomorfos/inmunologíaRESUMEN
Late-onset hypogonadism describes the co-occurrence of a range of physical, psychological and sexual symptoms in aging men, with the implication that these symptoms are caused by androgen deficiency. Previous investigations examined mostly population samples and did not take into account the testosterone modulating effects of the genetically determined CAG repeat polymorphism (CAGn) of the androgen receptor (AR) gene. This is the first study which investigates aging male symptoms (AMS) in relation to the genetically determined androgen receptor CAG polymorphism, estradiol and testosterone levels in men > or =50 years of age in a healthy population sample (n=100), outpatients of an andrological department (n=76) who presented with sexual and "aging male" symptoms and a psychosomatic/psychiatric sample (n=120) who presented with various psychological and medically unexplained somatic complaints. Although the population sample was significantly older than the two patient groups, they reported significantly fewer AMS and had higher testosterone levels and shorter CAG repeats of the AR. Regression analysis revealed influences of CAGn on the AMS global score and the psychological and somatic subscale only in the two patient samples, while testosterone had some impact on the sexual subscale. Our results suggest that the so-called aging male symptoms show a certain association to androgenicity, but that they are rather unspecific and of multifactorial origin. Other factors contributing to AMS need further clarification.
Asunto(s)
Envejecimiento/fisiología , Síndrome de Resistencia Androgénica/genética , Hormonas Esteroides Gonadales/sangre , Hipogonadismo/genética , Receptores Androgénicos/genética , Expansión de Repetición de Trinucleótido , Edad de Inicio , Anciano , Anciano de 80 o más Años , Envejecimiento/sangre , Envejecimiento/genética , Síndrome de Resistencia Androgénica/sangre , Síndrome de Resistencia Androgénica/fisiopatología , Estudios de Casos y Controles , Humanos , Hipogonadismo/sangre , Hipogonadismo/epidemiología , Masculino , Persona de Mediana Edad , Polimorfismo Genético/fisiología , Trastornos Psicofisiológicos/sangre , Trastornos Psicofisiológicos/epidemiología , Trastornos Psicofisiológicos/genética , Proyectos de Investigación , Muestreo , Disfunciones Sexuales Fisiológicas/sangre , Disfunciones Sexuales Fisiológicas/epidemiología , Disfunciones Sexuales Fisiológicas/genética , Disfunciones Sexuales Psicológicas/sangre , Disfunciones Sexuales Psicológicas/epidemiología , Disfunciones Sexuales Psicológicas/genética , Expansión de Repetición de Trinucleótido/fisiologíaRESUMEN
PURPOSE: Fluvoxamine (FVX) is metabolized by cytochrome P450 (CYP) 2D6 and CYP1A2 and inhibits CYP3A4. The aim of this study was to investigate the factors responsible for interindividual variability in the extent of interaction between FVX and alprazolam (ALP). METHODS: Blood samples were taken from 49 depressive patients to determine plasma concentration of FVX, ALP or both. Twenty-four samples were taken during the FVX-alone period, 21 samples during the ALP-alone period and 30 samples during the FVX-ALP period. Subjects were also genotyped for CYP2D6. RESULTS: The concentration-to-dose (C/D) ratio of ALP during the FVX-treatment period was significantly higher than that during the ALP-alone period. The CYP2D6 genotype affected neither the C/D ratios of FVX nor the extent of interaction. The mean C/D ratio of FVX in smokers was reduced by more than 30% in comparison with that in non-smokers. The mean C/D ratio of ALP in non-smokers was increased by FVX, while that in smokers was unchanged. CONCLUSIONS: The extent of interaction between FVX and ALP may be affected by smoking, which alters the C/D ratio of FVX. Therefore, when FVX and ALP are concomitantly administered, it should be noted that non-smokers may exhibit greater drug interaction than smokers.
Asunto(s)
Alprazolam/uso terapéutico , Citocromo P-450 CYP2D6/genética , Fluvoxamina/uso terapéutico , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Fumar/metabolismo , Alelos , Alprazolam/sangre , Relación Dosis-Respuesta a Droga , Interacciones Farmacológicas/genética , Fluvoxamina/sangre , Genotipo , Humanos , Polimorfismo Genético/efectos de los fármacos , Trastornos Psicofisiológicos/tratamiento farmacológico , Trastornos Psicofisiológicos/genética , Inhibidores Selectivos de la Recaptación de Serotonina/sangreAsunto(s)
Adaptación Psicológica , Trastornos de Ansiedad/prevención & control , Maltrato a los Niños/terapia , Trastorno Depresivo Mayor/prevención & control , Cuidados en el Hogar de Adopción/métodos , Trastornos Psicofisiológicos/prevención & control , Medio Social , Trastornos Relacionados con Sustancias/prevención & control , Adolescente , Adulto , Trastornos de Ansiedad/genética , Trastornos de Ansiedad/psicología , Niño , Maltrato a los Niños/psicología , Trastorno Depresivo Mayor/genética , Trastorno Depresivo Mayor/psicología , Cuidados en el Hogar de Adopción/psicología , Predisposición Genética a la Enfermedad/genética , Predisposición Genética a la Enfermedad/psicología , Genotipo , Humanos , Evaluación de Procesos y Resultados en Atención de Salud , Trastornos Psicofisiológicos/genética , Trastornos Psicofisiológicos/psicología , Factores de Riesgo , Trastornos Relacionados con Sustancias/genética , Trastornos Relacionados con Sustancias/psicologíaRESUMEN
BACKGROUND: Several studies have identified increased medical problems among individuals with panic disorder (PD). We previously found that specific conditions--interstitial cystitis (IC), mitral valve prolapse (MVP), migraines, and thyroid disorders--aggregated non-randomly among panic families (we called this the "PD syndrome") and that families with and without the syndrome were genetically distinguishable on chromosome 13. We present data from a new case-control study that replicates and extends the syndrome phenotype clinically. METHODS: Probands with a definite diagnosis and family history of PD (n=219), social anxiety disorder (SAD; n=199), or both (n=173) and 102 control subjects with no personal/family history of anxiety were interviewed with the SADS-LA diagnostic instrument. Medical history was obtained via medical checklist and the family history screen; IC symptoms were assessed with criteria developed by the National Institute for Diabetes and Digestive and Kidney Diseases. Subjects and interviewers were unaware of the syndrome hypothesis; final best-estimate diagnoses were blind to syndrome data. RESULTS: Probands with PD or SAD, as compared with control subjects, were five or more times as likely to report IC symptoms and twice as likely to report MVP and migraines (other genitourinary and cardiovascular problems were not elevated). First-degree relatives of probands with PD or SAD were also at increased risk for IC, MVP, thyroid problems, and headaches, regardless of whether the proband reported the same condition. CONCLUSIONS: These findings are consistent with previous data supporting a PD syndrome and further suggest that this syndrome might include other anxiety disorders well.
Asunto(s)
Cromosomas Humanos Par 13/genética , Trastorno de Pánico/genética , Trastornos Fóbicos/genética , Trastornos Psicofisiológicos/genética , Adulto , Trastornos de Ansiedad/genética , Trastornos de Ansiedad/psicología , Comorbilidad , Femenino , Predisposición Genética a la Enfermedad/genética , Predisposición Genética a la Enfermedad/psicología , Humanos , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/genética , Trastornos Mentales/psicología , Persona de Mediana Edad , Trastorno de Pánico/diagnóstico , Trastorno de Pánico/psicología , Fenotipo , Trastornos Fóbicos/diagnóstico , Trastornos Fóbicos/psicología , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , SíndromeRESUMEN
It has become increasingly clear that genetic factors influence many of the behaviors and disease endpoints of interest to psychosomatic medicine researchers. There has been increasing interest in incorporating genetic variation markers into psychosomatic research. In this Statistical Corner article, we build on the valuable experiences gained during two workshops for "starters in the field" at the American Psychosomatic Society and the Society for Psychophysiological Research to review two common genetically informative research designs for human studies: twin and genetic association studies. We outline statistical techniques for each and, for genetic association studies, address special topics, including the treatment of race and ethnicity, gene x gene and gene x environment interaction, haplotype analysis, and power and sample size. Finally, we discuss the issue of nonreplication and interpretation of results derived from genetic association studies. We hope this overview of twin and genetic association designs will support and stimulate thoughtful applications of genetic approaches within psychosomatic medicine.
Asunto(s)
Trastornos Psicofisiológicos/genética , Medicina Psicosomática/tendencias , Proyectos de Investigación , Estudios de Casos y Controles , Estudios de Cohortes , Interpretación Estadística de Datos , Predisposición Genética a la Enfermedad , Humanos , Estudios en Gemelos como AsuntoRESUMEN
Autosomal dominant spinocerebellar ataxias (SCAs) are slowly progressive and have a variable clinical presentation. Overlapping clinical features among the SCAs make the clinical diagnosis of these ataxias difficult. Even when genetic testing identifies an SCA mutation, clinicians should be vigilant for other causes of neurological dysfunction in these patients. We report two patients who developed other causes of ataxia in the setting of SCA-3 and SCA-8 mutations, respectively.
Asunto(s)
Ataxia/etiología , Esclerosis Múltiple/complicaciones , Mutación/genética , Proteínas del Tejido Nervioso/genética , Proteínas Nucleares/genética , Trastornos Psicofisiológicos/complicaciones , Proteínas Represoras/genética , Adulto , Ataxina-3 , Femenino , Humanos , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/genética , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/genética , ARN Largo no Codificante , ARN no TraducidoRESUMEN
Exogenous risk factors of cardiovascular diseases and genetic burden of psychosomatic pathologies have been studied in practically healthy students with various physiological and psychological adaptation abilities for differential analysis of the risk for development of cardiological diseases. The complex of genetic burden of psychosomatic pathologies and exogenous risk factors was significantly more frequent in practically healthy students with strong profile of adaptation mechanisms, increased circadian profile, zero type and weak persistence of fixated set.