Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 17 de 17
Filtrar
Más filtros

Banco de datos
País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Acta Oncol ; 59(2): 134-140, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31591921

RESUMEN

Background: Neuroblastoma is the commonest extracranial solid tumor of childhood, yet rare, and with poor survival before 1990, especially for high-risk disease; thus, information on late effects is sparse. With great advances in cancer treatment, survival has reached 80% in the Nordic countries. The aim of the study was to investigate the risk of developing neurologic disorders after neuroblastoma.Material and methods: Through population-based cancer registries of four Nordic countries we identified 654 5-year survivors of neuroblastoma (diagnosed 1959-2008) and 133,668 matched population comparisons. We grouped neurologic diagnoses from national hospital registries into 11 main diagnostic categories and 56 disease-specific sub-categories and calculated relative risks (RRs), absolute excess risks (AERs), cumulative incidence and mean cumulative count (MCC). Information on cancer treatment was available for 49% of survivors.Results: A hospital contact for a neurologic disorder was observed in 181 survivors 5 years or more from cancer diagnosis with 59 expected, yielding a RR of 3.1 (95% CI 2.7-3.6) and an AER of 16 per 1,000 person-years (95% CI 12-19). The most frequent disorders included epilepsy, paralytic syndromes, diseases of the eyes and ears and hearing loss. The cumulative incidence of any neurologic disorder was 31% in survivors 20 years after cancer diagnosis with a MCC of 0.5 unique diagnoses. All risks were highest in survivors of high-risk neuroblastoma.Conclusion: Neuroblastoma survivors represent a population with a high risk of developing neurologic disorders. Our results should contribute to improving health care planning and underscores the need for systematic follow-up care of this vulnerable group of survivors.


Asunto(s)
Supervivientes de Cáncer/estadística & datos numéricos , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/etiología , Neuroblastoma/epidemiología , Adolescente , Adulto , Niño , Estudios de Seguimiento , Hospitalización , Humanos , Incidencia , Enfermedades del Sistema Nervioso/patología , Neuroblastoma/complicaciones , Neuroblastoma/terapia , Sistema de Registros/estadística & datos numéricos , Riesgo , Países Escandinavos y Nórdicos/epidemiología , Adulto Joven
2.
Mol Genet Metab ; 120(4): 384-391, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28336152

RESUMEN

TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1383Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. However a small amount of normal spliced transcript is apparently produced from the mutated allele, which might explain the milder phenotype. The gene products of TSC1/2 form a complex which at energy limiting states, down-regulates the activity of the regulator of protein synthesis, the mammalian target of rapamycin complex1 (mTORC1). As expected, in contrast to cultured control fibroblasts, starvation of cultured patient fibroblasts obtained from a hypomelanotic macule did not lead to repression of mTORC1, whereas partial repression was observed in patient fibroblasts obtained from non-lesional skin. The findings indicate that the development of hypomelanotic macules is associated with constitutive activated mTORC1, whereas mild deregulation of mTORC1 allows the maintenance of normal skin. Furthermore, the finding establishes the pathogenic effect of the "silent" c.4149C>T substitution and emphasizes the need for awareness when interpreting silent substitutions in general.


Asunto(s)
Complejos Multiproteicos/genética , Complejos Multiproteicos/metabolismo , Enfermedades de la Piel/patología , Serina-Treonina Quinasas TOR/genética , Serina-Treonina Quinasas TOR/metabolismo , Esclerosis Tuberosa/complicaciones , Proteínas Supresoras de Tumor/genética , Sustitución de Aminoácidos , Células Cultivadas , Regulación hacia Abajo , Femenino , Fibroblastos/citología , Fibroblastos/metabolismo , Humanos , Masculino , Diana Mecanicista del Complejo 1 de la Rapamicina , Linaje , Empalme del ARN , Análisis de Secuencia de ADN , Enfermedades de la Piel/genética , Enfermedades de la Piel/metabolismo , Esclerosis Tuberosa/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa
3.
Eur J Med Genet ; 65(3): 104444, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35093606

RESUMEN

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.


Asunto(s)
Artrogriposis , Epilepsia , Receptores Nicotínicos , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Humanos , Masculino , Receptores Nicotínicos/genética , Convulsiones , Sueño
4.
Ugeskr Laeger ; 182(16)2020 04 13.
Artículo en Danés | MEDLINE | ID: mdl-32286212

RESUMEN

Since the outbreak of enterovirus D68 (EV-D68) in the USA in 2014, the association between infection with EV-D68 and acute flaccid myelitis (AFM) has been well described. EV-D68 has been detected before in Denmark, but this is the first case report of EV-D68 in the respiratory tract of a one-year-old child with AFM. Simultaneously, another child with EV-D68 detected in a respiratory tract sample was admitted, who had a severe respiratory tract infection without AFM, needing two weeks of intensive care treatment.


Asunto(s)
Enfermedades Virales del Sistema Nervioso Central , Enterovirus Humano D , Infecciones por Enterovirus , Mielitis , Infecciones del Sistema Respiratorio , Niño , Infecciones por Enterovirus/diagnóstico , Humanos , Lactante , Mielitis/diagnóstico , Enfermedades Neuromusculares , Infecciones del Sistema Respiratorio/diagnóstico
5.
Acta Paediatr ; 98(1): 173-9, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18764862

RESUMEN

AIM: Based on hypotheses from experimental studies, we studied the association between intrauterine exposure to coffee and the risk of clinically verified hyperkinetic disorder and attention-deficit hyperactivity disorder (ADHD). METHODS: A cohort study with prospectively collected data from the Aarhus Birth Cohort, Denmark. We included 24 068 singletons delivered between 1990 and 1998. Linkage was performed with three Danish longitudinal registers: The Danish Psychiatric Central Register, The Integrated Database for Labour Market Research and The Danish Civil Registration System. We identified 88 children with hyperkinetic disorder and ADHD. Information about coffee consumption during pregnancy was obtained at 16 weeks of gestation from self-administrated questionnaires. Potential confounding factors were evaluated using Cox regression analyses. RESULTS: We found that intrauterine exposure to 10 or more cups of coffee per day was associated with a threefold increased risk of hyperkinetic disorder and ADHD. After adjustments for a number of confounding factors, the risk decreased and became statistically insignificant (RR 2.3, 95% CI 0.9-5.9). CONCLUSION: Prenatal exposure to high levels of coffee did not significantly increase the risk of clinically verified hyperkinetic disorder and ADHD in childhood.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Cafeína/efectos adversos , Estimulantes del Sistema Nervioso Central/efectos adversos , Café/efectos adversos , Hipercinesia/epidemiología , Efectos Tardíos de la Exposición Prenatal , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/etiología , Niño , Preescolar , Estudios de Cohortes , Intervalos de Confianza , Dinamarca/epidemiología , Femenino , Humanos , Hipercinesia/etiología , Recién Nacido , Persona de Mediana Edad , Pruebas Neuropsicológicas , Embarazo , Estudios Prospectivos , Psicometría , Sistema de Registros , Medición de Riesgo , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
6.
Neuro Oncol ; 21(1): 125-136, 2019 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-29850875

RESUMEN

Background: A comprehensive overview of neurologic complications among survivors of central nervous system (CNS) tumors in childhood is lacking. We aimed to investigate the risk for these disorders in a large, population-based study with outcome measures from nationwide hospital registries. Methods: We identified 4858 five-year survivors with diagnoses of CNS tumor in childhood in Denmark, Iceland, Finland, and Sweden in 1943-2007, and 166658 matched population comparison subjects. Inpatient discharge diagnoses of neurologic disorders were used to calculate relative risks (RRs) and absolute excess risks (AERs). Results: A neurologic disorder was verified in 1309 survivors, while 92.4 were expected, yielding an overall RR of 14.2 (95% confidence interval [CI]: 13.3-15.1) and an AER of 20 hospitalizations per 1000 persons per year. The risks remained increased more than 20 years after diagnosis (RR: 6.3, 95% CI: 5.6-7.2; AER: 11, 9-12). The most frequent diagnoses were epilepsy (affecting 14.1% of all survivors) followed by hydrocephalus (9.5%) and paralytic syndromes (4.2%), with RRs of 28.7 (95% CI: 26.0-31.6), 243 (95% CI: 190-311), and 40.3 (95% CI: 33.1-49.2), respectively. Of these outcomes, 30%-40% were diagnosed prior to or synchronously with the CNS tumor. The survivors had highly increased RRs for infectious diseases of the CNS, disorders of cranial nerves, and degenerative diseases of the nervous system. Conclusions: Survivors of childhood CNS tumors are at markedly increased risk for neurologic disorders throughout their lives. Health care professionals must be aware of survivors who might benefit from preventive interventions and intensive follow-up.


Asunto(s)
Supervivientes de Cáncer/estadística & datos numéricos , Neoplasias del Sistema Nervioso Central/complicaciones , Hospitalización/estadística & datos numéricos , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/etiología , Sistema de Registros/estadística & datos numéricos , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso/patología , Pronóstico , Factores de Riesgo , Países Escandinavos y Nórdicos/epidemiología , Tasa de Supervivencia , Adulto Joven
7.
BMC Public Health ; 7: 327, 2007 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-17999767

RESUMEN

BACKGROUND: Attention Deficit/Hyperactivity Disorder (ADHD) affects many children, adolescents, and adults and is associated with a number of impairments. Poor academic performance is related to ADHD in clinical samples. However, it is unclear to what extent core ADHD symptoms and scholastic impairment are related in non-referred school-aged children. METHODS: Data come from three population-based cohorts from Sweden, Denmark, and Finland, which are part of the Nordic Network on ADHD. The combined sample size was 13,087 children who were studied at ages 7-8 or 10-12 years. Teachers rated children on inattention and hyperactivity symptoms and reported children's scholastic performance on basic skills. RESULTS: There was a significant association in all cohorts between core ADHD symptoms and scholastic impairment in reading, writing, and mathematics. Particularly, inattention was related to a two to tenfold increase in scholastic impairment. Prevalence of hyperactivity symptoms was similar across the three cohorts, but inattention was lowest among children from the Finnish cohort, after stratification on living conditions. CONCLUSION: These results extend previous reports of scholastic impairment among children with clinically diagnosed ADHD to non-referred population samples from three European countries. Surveillance policies should be implemented in school systems to catch children in need of behavioral or scholastic support early.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Evaluación Educacional , Discapacidades para el Aprendizaje/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Niño , Estudios de Cohortes , Dinamarca/epidemiología , Medicina Basada en la Evidencia , Docentes , Femenino , Finlandia/epidemiología , Humanos , Discapacidades para el Aprendizaje/epidemiología , Masculino , Vigilancia de la Población , Prevalencia , Tamaño de la Muestra , Instituciones Académicas/normas , Suecia/epidemiología
8.
Ugeskr Laeger ; 177(33): V12140712, 2015 Aug 10.
Artículo en Danés | MEDLINE | ID: mdl-26320355

RESUMEN

Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body areas and occurs in 1:3,000-5,000 live births. Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular disorder affecting the developing foetus, including limitation of foetal space. Amyoplasia is the most common type of AMC after central nervous system disorders. Knowledge about the classification of AMC is essential to make a correct diagnosis and treatment plans. We recommend follow-up by experienced paediatric orthopaedic surgeons and neurologists.


Asunto(s)
Artrogriposis , Artrogriposis/clasificación , Artrogriposis/diagnóstico , Artrogriposis/etiología , Artrogriposis/patología , Humanos , Lactante , Síndrome
9.
Am J Psychiatry ; 160(6): 1028-40, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12777257

RESUMEN

OBJECTIVE: The purpose of this review was to examine the literature assessing the relationship between prenatal exposure to nicotine, alcohol, caffeine, and psychosocial stress during pregnancy to the risk of developing behavioral problems related to attention deficit hyperactivity disorder (ADHD) in childhood. METHOD: PubMed, MEDLINE, EMBASE, and PsycINFO were searched systematically. Studies using DSM diagnostic criteria and other validated diagnostic or screening instruments for ADHD and those examining ADHD symptoms were included. A narrative approach was used because the studies differed too much in methods and data sources to permit a quantitative meta-analysis. RESULTS: Twenty-four studies on nicotine (tobacco smoking), nine on alcohol, one on caffeine, and five on psychosocial stress were identified. All were published between 1973 and 2002. In spite of inconsistencies, the studies on nicotine indicated a greater risk of ADHD-related disorders among children whose mothers smoked during pregnancy. Contradictory findings were reported in the alcohol studies, and no conclusion could be reached on the basis of the caffeine study. Results from studies on psychological stress during pregnancy were inconsistent but indicated a possible modest contribution to ADHD symptoms in the offspring. Many studies suffered from methodological shortcomings, such as recall bias, crude or inaccurate exposure assessments, low statistical power, and lack of or insufficient control of confounders. A general lack of information on familial psychopathology also limited the interpretations. CONCLUSIONS: Exposure to tobacco smoke in utero is suspected to be associated with ADHD and ADHD symptoms in children. Other maternal lifestyle factors during pregnancy may also be associated with these disorders. Further studies are needed to reach conclusions.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/etiología , Estilo de Vida , Complicaciones del Embarazo/epidemiología , Efectos Tardíos de la Exposición Prenatal , Adolescente , Adulto , Consumo de Bebidas Alcohólicas/efectos adversos , Consumo de Bebidas Alcohólicas/epidemiología , Consumo de Bebidas Alcohólicas/psicología , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Cafeína/efectos adversos , Niño , Preescolar , Café/efectos adversos , Femenino , Humanos , Masculino , Nicotina/efectos adversos , Embarazo , Complicaciones del Embarazo/psicología , Factores de Riesgo , Fumar/efectos adversos , Fumar/epidemiología , Fumar/psicología , Estrés Psicológico/epidemiología , Estrés Psicológico/psicología , Estados Unidos/epidemiología
10.
Int J Epidemiol ; 40(2): 338-45, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21075808

RESUMEN

BACKGROUND: Studies have consistently shown that pregnancy smoking is associated with twice the risk of hyperactivity/inattention problems in the offspring. An association of this magnitude may indicate behavioural difficulties as one of the most important health effects related to smoking during pregnancy. However, social and genetic confounders may fully or partially account for these findings. METHODS: A cohort including all singletons born in Finland from 1 January 1987 through 31 December 2001 was followed until 1 January 2006 based on linkage of national registers. Data were available for 97% (N = 868,449) of the population. We followed singleton children of smoking and non-smoking mothers until they had an International Classification of Diseases, 10th revision, diagnosis of hyperkinetic disorder (HKD) or to the end of the observation period. We used sibling-matched Cox regression analyses to control for social and genetic confounding. RESULTS: We found a much smaller association between exposure to maternal smoking during pregnancy and risk of HKD in children using the sibling-matched analysis [hazards ratio (HR) = 1.20, 95% confidence interval (CI) 0.97-1.49] than was observed in the entire cohort (HR 2.01, 95% CI 1.90-2.12). CONCLUSIONS: Our findings suggest that the strong association found in previous studies may be due to time-stable familial factors, such as environmental and genetic factors. If smoking is a causal factor, the effect is small and less important than what the previous studies indicate.


Asunto(s)
Feto/efectos de los fármacos , Hipercinesia/etiología , Fumar/efectos adversos , Trastorno por Déficit de Atención con Hiperactividad/etiología , Estudios de Cohortes , Femenino , Humanos , Masculino , Embarazo , Modelos de Riesgos Proporcionales , Hermanos
11.
Ugeskr Laeger ; 172(36): 2460-5, 2010 Sep 06.
Artículo en Danés | MEDLINE | ID: mdl-20825736

RESUMEN

Nonconvulsive status epilepticus (NCSE) is defined by cognitive or behavioural changes for at least 30 minutes supplemented with evidence of seizures on electroencephalogram (EEG). NCSE constitutes 25% of all cases of status epilepticus (SE) and the highest incidence is seen among children below one year of age. The condition frequently occurs in patients with neurological injuries, specific epilepsy syndromes, learning disabilities and in the course of convulsive SE. Aggressive treatment is recommended for complex partial NCSE and in comatose patients and cautious treatment is recommended in absence and simple partial NCSE.


Asunto(s)
Estado Epiléptico , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Diagnóstico Diferencial , Electroencefalografía , Humanos , Lactante , Recién Nacido , Estado Epiléptico/clasificación , Estado Epiléptico/complicaciones , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamiento farmacológico
12.
Ugeskr Laeger ; 172(36): 2466-7, 2010 Sep 06.
Artículo en Danés | MEDLINE | ID: mdl-20825737

RESUMEN

This case report describes nonconvulsive status epilepticus of complex partial type in a 12-year-old, otherwise healthy girl. The case illustrates the characteristic epileptic twilight state with prolonged bizarre behaviour, psychosis, confusion and normal mental state. It may be difficult to identify the condition in childhood, as changes in behaviour and cognition are often recognized later than in adults. Treatment recommendations and other possible diagnoses are discussed.


Asunto(s)
Estado Epiléptico , Anticonvulsivantes/uso terapéutico , Niño , Clonazepam/administración & dosificación , Clonazepam/uso terapéutico , Diagnóstico Diferencial , Electroencefalografía , Femenino , Humanos , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/psicología , Ácido Valproico/administración & dosificación , Ácido Valproico/uso terapéutico
15.
Int J Epidemiol ; 38(3): 698-705, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18250076

RESUMEN

BACKGROUND: Prenatal exposure to smoking has been associated with Attention Deficit Hyperactivity Disorder (ADHD) in a number of epidemiological studies. However, mothers with the ADHD phenotype may 'treat' their problem by smoking and therefore be more likely to smoke even in a society where smoking is not acceptable. This will cause genetic confounding if ADHD has a heritable component, especially in populations with low prevalence rates of smoking since this reason for smoking is expected to be proportionally more frequent in a population with few 'normal' smokers. We compared the association in cohorts with different smoking frequencies. METHODS: A total of 20 936 women with singleton pregnancies were identified within three population-based pregnancy cohorts in Northern Finland (1985-1986) and in Denmark (1984-1987 and 1989-1991). We collected self-reported data on their pre-pregnancy and pregnancy smoking habits and followed the children to school age where teachers and parents rated hyperactivity and inattention symptoms. RESULTS: Children, whose mothers smoked during pregnancy, had an increased prevalence of a high hyperactivity-inattention score compared with children of nonsmokers in each of the cohorts after adjustment for confounders but we found no statistical significant difference between the associations across the cohorts. CONCLUSION: The estimated association was not strongest in the population with the fewest smokers which does not support the hypothesis that the association is entirely due to genetic confounding.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Hipercinesia/epidemiología , Efectos Tardíos de la Exposición Prenatal/epidemiología , Fumar/efectos adversos , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/genética , Actitud Frente a la Salud , Niño , Factores de Confusión Epidemiológicos , Dinamarca/epidemiología , Femenino , Finlandia/epidemiología , Humanos , Hipercinesia/genética , Masculino , Madres , Embarazo , Efectos Tardíos de la Exposición Prenatal/genética , Prevalencia , Fumar/epidemiología , Fumar/genética , Encuestas y Cuestionarios
16.
Pediatrics ; 116(2): 462-7, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16061604

RESUMEN

OBJECTIVE: Maternal smoking during pregnancy may increase the risk for behavioral disorders. The aim of this study was to investigate the association between smoking during pregnancy and hyperkinetic and attention-deficit/hyperactivity disorder in the offspring in a large population-based study. METHODS: This study was designed as a nested case-control study. Data were obtained from Danish longitudinal registers and included 170 children with hyperkinetic disorder and 3765 population-based control subjects, who were matched by age, gender, and date of birth. Potential confounders, including newborn characteristics, socioeconomic status, and family history of psychiatric illnesses, were evaluated by conditional logistic regression analyses. RESULTS: Women who smoked during pregnancy had a 3-fold increased risk for having offspring with hyperkinetic disorder compared with nonsmokers. Socioeconomic factors and history of mental disorder in the parents or siblings seemed to confound the result to some extent (adjusted relative risk: 1.9; 95% confidence interval: 1.3-2.8). Adjustment for parental age or exclusion of children with low birth weight (<2500 g), preterm delivery (<37 weeks completed gestation), and Apgar scores <7 at 5 minutes revealed no changes in the results. Also, excluding children with conduct disorders or comorbid disorders revealed no change in the results. CONCLUSIONS: Our results showed an increased risk for hyperkinetic disorder in children of mothers who smoked during pregnancy. This could not be explained by newborn characteristics, parental socioeconomic status, family history of psychiatric hospitalizations or contact as outpatients, conduct disorders, or comorbidity.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/etiología , Embarazo , Efectos Tardíos de la Exposición Prenatal , Fumar/efectos adversos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino , Factores de Riesgo , Factores Socioeconómicos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA