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1.
Emerg Infect Dis ; 30(3): 555-559, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38407150

RESUMEN

A neurocysticercosis-like lesion in an 11-year-old boy in the Netherlands was determined to be caused by the zoonotic Taenia martis tapeworm. Subsequent testing revealed that 15% of wild martens tested in that region were infected with T. martis tapeworms with 100% genetic similarity; thus, the infection source was most likely local.


Asunto(s)
Neurocisticercosis , Taenia , Masculino , Niño , Animales , Humanos , Neurocisticercosis/diagnóstico por imagen , Taenia/genética , Países Bajos
2.
Clin Genet ; 102(4): 350-351, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35791803

RESUMEN

We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.


Asunto(s)
Cardiomiopatías , Enfermedades Mitocondriales , Ataxia/genética , Cardiomiopatías/diagnóstico , Cardiomiopatías/genética , Humanos , Lactante , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/genética , Debilidad Muscular , Mutación , Ubiquinona/deficiencia
3.
Eur J Pediatr ; 178(9): 1305-1315, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31338675

RESUMEN

Acute flaccid myelitis is characterized by the combination of acute flaccid paralysis and a spinal cord lesion largely restricted to the gray matter on magnetic resonance imaging. The term acute flaccid myelitis was introduced in 2014 after the upsurge of pediatric cases in the USA with enterovirus D68 infection. Since then, an increasing number of cases have been reported worldwide. Whereas the terminology is new, the clinical syndrome has been recognized in the past in association with several other neurotropic viruses such as poliovirus.Conclusion: This review presents the current knowledge on acute flaccid myelitis with respect to the clinical presentation and its differential diagnosis with Guillain-Barré syndrome and acute transverse myelitis. We also discuss the association with enterovirus D68 and the presumed pathophysiological mechanism of this infection causing anterior horn cell damage. Sharing clinical knowledge and insights from basic research is needed to make progress in diagnosis, treatment, and prevention of this new polio-like disease. What is Known: • Acute flaccid myelitis (AFM) is a polio-like condition characterized by rapid progressive asymmetric weakness, together with specific findings on MRI • AFM has been related to different viral agents, but recent outbreaks are predominantly associated with enterovirus D68. What is New: • Improving knowledge on AFM must increase early recognition and adequate diagnostic procedures by clinicians. • The increasing incidence of AFM urges cooperation between pediatricians, neurologists, and microbiologists for the development of treatment and preventive options.


Asunto(s)
Enfermedades Virales del Sistema Nervioso Central/diagnóstico , Enterovirus Humano D , Infecciones por Enterovirus/diagnóstico , Mielitis/diagnóstico , Enfermedades Neuromusculares/diagnóstico , Enfermedades Virales del Sistema Nervioso Central/epidemiología , Enfermedades Virales del Sistema Nervioso Central/terapia , Enfermedades Virales del Sistema Nervioso Central/virología , Diagnóstico Diferencial , Infecciones por Enterovirus/complicaciones , Infecciones por Enterovirus/epidemiología , Infecciones por Enterovirus/terapia , Salud Global , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/virología , Humanos , Mielitis/epidemiología , Mielitis/terapia , Mielitis/virología , Mielitis Transversa/diagnóstico , Mielitis Transversa/virología , Enfermedades Neuromusculares/epidemiología , Enfermedades Neuromusculares/terapia , Enfermedades Neuromusculares/virología , Pronóstico
4.
J Pediatr ; 192: 33-40.e2, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29246356

RESUMEN

OBJECTIVE: To assess the predictive value of a novel magnetic resonance imaging (MRI) score, which includes diffusion-weighted imaging as well as assessment of the deep grey matter, white matter, and cerebellum, for neurodevelopmental outcome at 2 years and school age among term infants with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia. STUDY DESIGN: This retrospective cohort study (cohort 1, The Netherlands 2008-2014; cohort 2, Sweden 2007-2012) including infants born at >36 weeks of gestational age treated with therapeutic hypothermia who had an MRI in the first weeks of life. The MRI score consisted of 3 subscores: deep grey matter, white matter/cortex, and cerebellum. Primary adverse outcome was defined as death, cerebral palsy, Bayley Scales of Infant and Toddler Development, third edition, motor or cognitive composite scores at 2 years of <85, or IQ at school age of <85. RESULTS: In cohort 1 (n = 97) and cohort 2 (n = 76) the grey matter subscore was an independent predictor of adverse outcome at 2 years (cohort 1, OR, 1.6; 95% CI, 1.3-1.9; cohort 2, OR, 1.4; 95% CI, 1.2-1.6), and school age (cohort 1, OR, 1.3; 95% CI, 1.2-1.5; cohort 2, OR, 1.3; 95% CI, 1.1-1.6). The white matter and cerebellum subscore did not add to the predictive value. The positive predictive value, negative predictive value, and area under the curve for the grey matter subscore were all >0.83 in both cohorts, whereas the specificity was >0.91 with variable sensitivity. CONCLUSION: A novel MRI score, which includes diffusion-weighted imaging and assesses all brain areas of importance in infants with therapeutic hypothermia after perinatal asphyxia, has predictive value for outcome at 2 years of age and at school age, for which the grey matter subscore can be used independently.


Asunto(s)
Asfixia Neonatal/diagnóstico por imagen , Parálisis Cerebral/etiología , Discapacidades del Desarrollo/etiología , Imagen de Difusión por Resonancia Magnética , Hipotermia Inducida , Hipoxia-Isquemia Encefálica/diagnóstico por imagen , Índice de Severidad de la Enfermedad , Asfixia Neonatal/complicaciones , Asfixia Neonatal/mortalidad , Asfixia Neonatal/terapia , Encéfalo/diagnóstico por imagen , Parálisis Cerebral/diagnóstico , Niño , Preescolar , Técnicas de Apoyo para la Decisión , Discapacidades del Desarrollo/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Hipoxia-Isquemia Encefálica/complicaciones , Hipoxia-Isquemia Encefálica/mortalidad , Hipoxia-Isquemia Encefálica/terapia , Recién Nacido , Modelos Logísticos , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Resultado del Tratamiento
5.
Am J Med Genet C Semin Med Genet ; 175(4): 450-464, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-29168326

RESUMEN

"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri-anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.


Asunto(s)
Síndrome CHARGE/diagnóstico , Síndrome CHARGE/terapia , Encéfalo/anomalías , Síndrome CHARGE/genética , Manejo de la Enfermedad , Humanos , Neuroimagen/métodos , Guías de Práctica Clínica como Asunto
7.
Eur Radiol ; 22(4): 772-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22057247

RESUMEN

OBJECTIVE: Magnetic resonance spectroscopy can identify brain metabolic changes in perinatal asphyxia by providing ratios of metabolites, such as choline (Cho), creatine (Cr), N-acetyl aspartate (NAA) and lactate (Lact) [Cho/Cr, Lact/NAA, etc.]. The purpose of this study was to quantify the separate white and grey matter metabolites in a slab cranial to the ventricles and relate these to the outcome. METHODS: A standard 2D-chemical shift imaging protocol was used for measuring a transverse volume of interest located cranial to the ventricles allowing for direct comparison of the metabolites in white and grey matter brain tissue in 24 term asphyxiated newborns aged 3 to 16 days. RESULTS: Cho, NAA and Lact showed significant differences between four subgroups of asphyxiated infants with more and less favourable outcomes. High levels of Cho and Lact in the grey matter differentiated non-survivors from survivors (P = 0.003 and P = 0.017, respectively). CONCLUSION: In perinatal asphyxia the levels of Cho, NAA and Lact in both white and grey matter brain tissue are affected. The levels of Cho and Lact measured in the grey matter are the most indicative of survival. It is therefore advised to include grey matter brain tissue in the region of interest examined by multivoxel MR spectroscopy. KEY POINTS: Magnetic resonance spectroscopy can identify brain metabolic changes in perinatal asphyxia. Choline and lactate levels in grey matter seem the best indicators of survival. Both grey and white matter should be examined during spectroscopy for perinatal asphyxia.


Asunto(s)
Asfixia Neonatal/metabolismo , Asfixia Neonatal/mortalidad , Encéfalo/metabolismo , Espectroscopía de Resonancia Magnética/métodos , Fibras Nerviosas Mielínicas/metabolismo , Neuronas/metabolismo , Asfixia Neonatal/diagnóstico , Femenino , Humanos , Imagenología Tridimensional/métodos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Masculino , Países Bajos/epidemiología , Prevalencia , Pronóstico , Análisis de Supervivencia , Tasa de Supervivencia
8.
Eur J Paediatr Neurol ; 41: 91-98, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36410285

RESUMEN

Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndrome have been proposed: agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. We identified 15 patients carrying a homozygous founder missense variant in EPG5 who all exhibit a less severe clinical phenotype than classic Vici syndrome. All 15 show typical brain abnormalities on MRI. The homozygous founder variant in EPG5 they carry results in a shorter in-frame transcript and truncated, but likely still residual, EPG5 protein. We speculate that the residual EPG5 protein explains their attenuated phenotype, which is consistent with two previous observations that low expression of EPG5 can lead to an attenuated Vici syndrome phenotype. We propose renaming this condition EPG5-related neurodevelopmental disorder to emphasize the clinical variability of patients with bi-allelic mutations in EPG5.


Asunto(s)
Catarata , Humanos , Catarata/genética , Fenotipo , Homocigoto , Cuerpo Calloso , Proteínas Relacionadas con la Autofagia , Proteínas de Transporte Vesicular/genética
9.
J Pediatr ; 158(3): 474-9, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20884005

RESUMEN

OBJECTIVE: To test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (HH) in patients with CHARGE syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear anomalies or hearing loss caused by mutations in the CHD7 (chromodomain helicase DNA binding protein 7) gene. STUDY DESIGN: We performed endocrine studies and smell testing (University of Pennsylvania Smell Identification Test) in 35 adolescent patients with molecularly confirmed CHARGE syndrome. RESULTS: Complete data on smell and puberty were available for 15 patients; 11 patients had both anosmia and HH, whereas 4 patients had normosmia/hyposmia and spontaneous puberty. In addition, 7 boys were highly suspected of having HH (they were too young for definite HH diagnosis, but all had cryptorchidism, micropenis, or both) and had anosmia. The type of CHD7 mutation could not predict HH because a father and daughter with the same CHD7 mutation were discordant for HH and anosmia. CONCLUSION: Anosmia and HH were highly correlated in our cohort, and therefore smell testing seems to be an attractive method for predicting the occurrence of HH in patients with CHARGE syndrome. The use of this test could prevent delay of hormonal pubertal induction, resulting in an age-appropriate puberty.


Asunto(s)
Síndrome CHARGE , Hipogonadismo/diagnóstico , Trastornos del Olfato/diagnóstico , Pubertad Tardía/prevención & control , Adolescente , Adulto , Niño , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Hipogonadismo/complicaciones , Imagen por Resonancia Magnética , Masculino , Países Bajos , Trastornos del Olfato/etiología , Bulbo Olfatorio/patología , Valor Predictivo de las Pruebas
10.
Eur J Paediatr Neurol ; 25: 172-180, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31753707

RESUMEN

BACKGROUND: Melatonin may offer a safe and cheap alternative to general anaesthesia and sedatives in neuropaediatric MRI. The purpose of our study was to evaluate its efficacy during a daily scanning programme and to assess its financial benefit. METHODS: Neuro-MRI scans, performed in a general hospital setting after administration of melatonin in 64 children aged 10 months-5 years, were retrospectively reassessed by an experienced paediatric neuroradiologist, rating them as diagnostically contributing or as failed. The financial benefit was calculated. RESULTS: 49/64 scans (77%) were diagnostically contributing, in 11 (22%) no movement artefact was seen in any sequence; 15/64 scans failed (23%), in 3/15 because of serious movement artefacts, in 12/15 the scan was not started. Repeat scans under general anaesthesia were performed in 17 cases (27%): in the 15 failed cases and in 2 cases initially assessed as failed, but were considered diagnostically contributing in the present study. The financial benefit at the time the scans were made was approximately 13,360 Euro. CONCLUSIONS: In this retrospective study, the use of melatonin in neuropaediatric MRI, made during a daily scanning programme with a remote waiting room, was associated with a high success rate in infants and young children. A minority of scans had no movement artefacts, indicating most children were not asleep. The sleep-inducing effect of melatonin could therefore not be proven, but the high success rate may be attributed to the sedative and/or anxiolytic effect of melatonin. Only a minority of scans had to be repeated under general anesthesia, leading to a reduction of scan related costs.


Asunto(s)
Hipnóticos y Sedantes/uso terapéutico , Imagen por Resonancia Magnética/métodos , Melatonina/uso terapéutico , Neuroimagen/métodos , Artefactos , Niño , Preescolar , Femenino , Hospitales Generales , Humanos , Lactante , Masculino , Movimiento , Estudios Retrospectivos
11.
J Clin Endocrinol Metab ; 93(5): 1854-9, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-18319316

RESUMEN

CONTEXT: In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy. OBJECTIVE: We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism. DESIGN: MRI and MR spectroscopy of the brain were performed twice in two MCT8 gene deficiency patients, for the first time at age 8-10 months and for the second time at age 17-28 months. The results were compared with those obtained in controls of a similar age. RESULTS: Compared with controls, young children with MCT8 show choline and myoinositol level increases and N-acetyl aspartate decreases in supraventricular gray and white matter, phenomena associated with the degree of dysmyelinization according to MRI. CONCLUSION: MCT8 gene deficiency results in deviant myelinization and general atrophy, which is substantiated by the MR spectroscopy findings of increased choline and myoinositol levels and decreased N-acetyl aspartate. The observations suggest that different mutations in the MCT8 gene lead to differences in the severity of the clinical spectrum, dysmyelinization, and MR spectroscopy-detectable changes in brain metabolism.


Asunto(s)
Encéfalo/metabolismo , Encéfalo/patología , Transportadores de Ácidos Monocarboxílicos/genética , Mutación , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análisis , Colina/análisis , Genotipo , Humanos , Hipotiroidismo/metabolismo , Hipotiroidismo/patología , Lactante , Inositol/análisis , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Simportadores
12.
Cerebrospinal Fluid Res ; 5: 4, 2008 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-18312688

RESUMEN

BACKGROUND: Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation) may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events.The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. METHODS: Seven fetuses and 1 neonate (16-40 week gestational age, GA) with MMC and 6 fetuses with normal cerebral development (22-41 week GA) were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US). After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. RESULTS: At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21-34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37-40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. CONCLUSION: In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation and/or hydrocephalus. Since denuded areas cannot re-establish cell function, neuro-developmental consequences could induce permanent cerebral pathology.

13.
Eur Radiol ; 18(11): 2601-9, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18493780

RESUMEN

Acute liver failure (ALF)-related encephalopathy was previously characterized by MR spectroscopy of single voxels containing both grey and white matter brain tissue. Quantitative multivoxel MRS was used here to compare grey and white matter brain tissue concentrations of glutamate/glutamine (Glx) and lactate in ALF and associate the results with other liver function parameters. Five pediatric patients with ALF-related encephalopathy and five controls, examined after successful liver transplantation, were examined by brain MRI/MRS. ALF patients had higher Glx and lactate concentrations in brain white matter than controls (Glx + 125%: P < 0.01; lactate + 33%, P < 0.05) and higher Glx in grey matter (Glx + 125%: P < 0.01). Within the group of ALF patients positive correlations were found between grey or white matter lactate concentration and serum ammonia (P < 0.05), and negative correlations between grey or white matter Glx and venous pH (P < 0.001). This is the first study presenting evidence of high Glx levels in both white and grey matter brain tissue in ALF-related encephalopathy. The elevations in CNS Glx and lactate concentrations appear to relate to hepatic detoxification (ammonia, venous pH), rather than to liver parenchymal integrity (aspartate aminotransferase, alanine aminotransferase) or biliary cholestasis (bilirubin, gamma-glutamyl transpeptidase, alkaline phosphatase).


Asunto(s)
Encefalopatías/diagnóstico , Encefalopatías/metabolismo , Ácido Glutámico/análisis , Interpretación de Imagen Asistida por Computador/métodos , Fallo Hepático Agudo/diagnóstico , Fallo Hepático Agudo/metabolismo , Imagen por Resonancia Magnética/métodos , Biomarcadores/análisis , Encéfalo , Niño , Preescolar , Femenino , Humanos , Imagenología Tridimensional/métodos , Lactante , Masculino , Protones , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
14.
Acta Otolaryngol ; 127(10): 1018-23, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17851902

RESUMEN

CONCLUSION: No signs of chronic stress as in hippocampal atrophy were present in patients with Ménière's disease. OBJECTIVE: To evaluate the effect of chronic stress (allostatic load) by measuring hippocampal volume in patients with Ménière's disease. SUBJECTS AND METHODS: Ten patients with Meniere's disease and 10 healthy controls were evaluated for absolute and relative hippocampal volumes measured on MRI scans, saliva cortisol levels and frequency of daily stressors. The study was performed in a prospective, controlled setting with two raters who were blinded as to subject identity. RESULTS: Saliva cortisol levels and presence of daily stressor scores were similar in both groups. The first rater measured mean hippocampal volumes of 2.80 +/- 0.36 cm3 vs 3.15 +/- 0.52 cm3 (right) and 2.49 +/- 0.32 cm3 vs 3.06 +/- 0.46 cm3 (left), for the Ménière's disease and control group, respectively. The second rater measured 3.44 +/- 0.35 cm3 vs 3.60 +/- 0.52 cm3 (right) and 3.00 +/- 0.40 cm3 vs 3.42 +/- 0.45 cm3 (left), respectively. The volume of the left hippocampus was significantly smaller in patients with Ménière's disease compared with the controls for both raters (p < 0.05) and the right hippocampal volume was not different between the two groups. With correction for variation in head size (partial brain and partial intracranial volume) no significant differences in relative hippocampal volumes were observed between patients with Ménière's disease and the control group.


Asunto(s)
Hipocampo/patología , Imagen por Resonancia Magnética/métodos , Enfermedad de Meniere/diagnóstico , Femenino , Humanos , Hidrocortisona/metabolismo , Masculino , Enfermedad de Meniere/metabolismo , Persona de Mediana Edad , Proyectos Piloto , Estudios Prospectivos , Reproducibilidad de los Resultados , Saliva/química
15.
Neuropsychologia ; 103: 131-139, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28723344

RESUMEN

Behavioural disturbances are frequently found after aneurysmal subarachnoid haemorrhage (aSAH). Social cognition impairments have been suggested as a possible underlying mechanism for behavioural problems. Also, aSAH is likely to result in damage affecting frontal-subcortical circuits underlying social cognition. Therefore, we aimed to investigate social cognition after aSAH and its associations with behavioural problems (deficits in interpersonal behaviour, apathy, and impaired self-awareness) and focal as well as diffuse brain damage. 88 aSAH patients (in the subacute phase post-aSAH) and 60 age-, sex- and education-matched healthy controls participated. Tasks for emotion recognition, Theory of Mind (ToM), and empathy as well as questionnaires were used. Cortical infarctions in frontal and non-frontal areas on MRI, aneurysm circulation and aSAH-related events were taken into account. Compared to healthy controls, aSAH patients performed significantly worse on tasks for emotion recognition, ToM and empathy. Poor performance on ToM and emotion recognition was associated with proxy-ratings indicating impaired interpersonal behaviour and apathy and with indications of impaired self-awareness. No associations were found between deficits in social cognition and frontal or non-frontal cortical lesions on MRI. Also, aneurysm circulation and aSAH-related events such as hydrocephalus, vasospasm, and treatment method did not explain why and how social cognitive deficits did occur after aSAH. In conclusion, emotion recognition, ToM and empathy were clearly impaired in aSAH patients and these deficits were related to apathy and deficits in interpersonal behaviour as reported by proxies and to impaired self-awareness. This association strengthens the assumption of impaired social cognition as an underlying construct of behavioural problems after aSAH. Consequently, social cognition tests and proxy-ratings should be used in clinical practice, irrespective of lesion location on MRI or aneurysm circulation, to improve the detection and treatment of apathy and deficits in interpersonal behaviour after aSAH.


Asunto(s)
Apatía , Trastornos del Conocimiento/etiología , Empatía , Autoimagen , Percepción Social , Hemorragia Subaracnoidea/psicología , Angiografía de Substracción Digital , Angiografía Cerebral , Trastornos del Conocimiento/diagnóstico por imagen , Angiografía por Tomografía Computarizada , Inteligencia Emocional , Reconocimiento Facial , Femenino , Humanos , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Hemorragia Subaracnoidea/complicaciones , Hemorragia Subaracnoidea/diagnóstico por imagen , Teoría de la Mente , Tomografía Computarizada por Rayos X
16.
Eur J Paediatr Neurol ; 10(1): 11-7, 2006 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-16504559

RESUMEN

Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the formation of abnormal myelin within the central and peripheral nervous system was functionally and radiologically assessed. Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling.


Asunto(s)
Proteínas de Unión al ADN/genética , Enfermedades Desmielinizantes/genética , Proteínas del Grupo de Alta Movilidad/genética , Enfermedad de Hirschsprung/genética , Factores de Transcripción/genética , Síndrome de Waardenburg/genética , Encéfalo/patología , Enfermedades Desmielinizantes/diagnóstico por imagen , Enfermedades Desmielinizantes/patología , Femenino , Crecimiento/fisiología , Enfermedad de Hirschsprung/diagnóstico por imagen , Enfermedad de Hirschsprung/patología , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Hipotonía Muscular/genética , Hipotonía Muscular/patología , Mutación , Conducción Nerviosa/fisiología , Examen Neurológico , Radiografía , Factores de Transcripción SOXE , Síndrome , Síndrome de Waardenburg/diagnóstico por imagen , Síndrome de Waardenburg/patología
17.
World Neurosurg ; 93: 410-2, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27368505

RESUMEN

BACKGROUND: In deep brain stimulation (DBS), accurate placement of the lead is critical. Target definition is highly dependent on visual recognition on magnetic resonance imaging (MRI). We prospectively investigated whether the 7-T MRI enabled better visualization of targets and led to better placement of leads compared with the 1.5-T and the 3-T MRI. METHODS: Three patients with PD (mean, 55 years) were scanned on 1.5-, 3-, and 7-T MRI before surgery. Tissue contrast and signal-to-noise ratio were measured. Target coordinates were noted on MRI and during surgery. Differences were analyzed with post-hoc analysis of variance. RESULTS: The 7-T MRI demonstrated a significant improvement in tissue visualization (P < 0.005) and signal-to-noise ratio (P < 0.005). However, no difference in the target coordinates was found between the 7-T and the 3-T MRI. CONCLUSIONS: Although the 7-T MRI enables a significant better visualization of the DBS target in patients with PD, we found no clinical benefit for the placement of the DBS leads.


Asunto(s)
Estimulación Encefálica Profunda/instrumentación , Estimulación Encefálica Profunda/métodos , Imagen por Resonancia Magnética/métodos , Enfermedad de Parkinson/prevención & control , Enfermedad de Parkinson/cirugía , Implantación de Prótesis/métodos , Electrodos Implantados , Humanos , Enfermedad de Parkinson/diagnóstico por imagen , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Cirugía Asistida por Computador/métodos , Resultado del Tratamiento
18.
J Neurosci ; 23(27): 9185-93, 2003 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-14534252

RESUMEN

Brain mechanisms that control human sexual behavior in general, and ejaculation in particular, are poorly understood. We used positron emission tomography to measure increases in regional cerebral blood flow (rCBF) during ejaculation compared with sexual stimulation in heterosexual male volunteers. Manual penile stimulation was performed by the volunteer's female partner. Primary activation was found in the mesodiencephalic transition zone, including the ventral tegmental area, which is involved in a wide variety of rewarding behaviors. Parallels are drawn between ejaculation and heroin rush. Other activated mesodiencephalic structures are the midbrain lateral central tegmental field, zona incerta, subparafascicular nucleus, and the ventroposterior, midline, and intralaminar thalamic nuclei. Increased activation was also present in the lateral putamen and adjoining parts of the claustrum. Neocortical activity was only found in Brodmann areas 7/40, 18, 21, 23, and 47, exclusively on the right side. On the basis of studies in rodents, the medial preoptic area, bed nucleus of the stria terminalis, and amygdala are thought to be involved in ejaculation, but increased rCBF was not found in any of these regions. Conversely, in the amygdala and adjacent entorhinal cortex, a decrease in activation was observed. Remarkably strong rCBF increases were observed in the cerebellum. These findings corroborate the recent notion that the cerebellum plays an important role in emotional processing. The present study for the first time provides insight into which regions in the human brain play a primary role in ejaculation, and the results might have important implications for our understanding of how human ejaculation is brought about, and for our ability to improve sexual function and satisfaction in men.


Asunto(s)
Encéfalo/diagnóstico por imagen , Encéfalo/fisiología , Eyaculación/fisiología , Tomografía Computarizada de Emisión , Adulto , Amígdala del Cerebelo/anatomía & histología , Amígdala del Cerebelo/diagnóstico por imagen , Amígdala del Cerebelo/fisiología , Velocidad del Flujo Sanguíneo/fisiología , Encéfalo/anatomía & histología , Mapeo Encefálico , Cerebelo/anatomía & histología , Cerebelo/diagnóstico por imagen , Cerebelo/fisiología , Circulación Cerebrovascular/fisiología , Heterosexualidad , Humanos , Imagen por Resonancia Magnética , Masculino , Mesencéfalo/anatomía & histología , Mesencéfalo/diagnóstico por imagen , Mesencéfalo/fisiología , Persona de Mediana Edad , Radioisótopos de Oxígeno , Erección Peniana/fisiología , Estimulación Física/métodos , Valores de Referencia , Parejas Sexuales , Factores de Tiempo
19.
Radiother Oncol ; 114(2): 239-44, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25596913

RESUMEN

BACKGROUND AND PURPOSE: To assess and compare brain abnormalities on Magnetic Resonance Imaging (MRI) in non-functioning pituitary macro-adenoma (NFA) patients treated with or without postoperative radiotherapy (RT). MATERIAL AND METHODS: In 86 NFA patients, treated between 1987 and 2008 at the University Medical Center Groningen, white-matter lesions (WMLs), cerebral atrophy, brain infarctions and abnormalities of the temporal lobes and hippocampi were assessed on pre- and post-treatment MRI scans in patients treated with (n=47) or without RT. RESULTS: The median MRI follow-up time for RT patients was 10 (range 1-22) years and 5 (range 1-21) years in patients treated without RT. In RT patients the cumulative incidence of WMLs was significantly lower compared to patients treated without RT (log-rank test RR 0.49, 95% CI 0.25-0.97, p=.042). The cumulative incidences of cerebral atrophy, brain infarctions, abnormalities of the temporal lobes and hippocampi, and the severity of WMLs and cerebral atrophy ratings were not significantly different between the two treatment groups. CONCLUSIONS: Brain abnormalities on MRI are not observed more frequently in NFA patients treated with RT compared to patients treated with surgery-alone. Furthermore, RT was not associated with an increased severity of WMLs and cerebral atrophy ratings in this cohort of NFA patients.


Asunto(s)
Adenoma/radioterapia , Encefalopatías/diagnóstico , Encefalopatías/etiología , Neoplasias Hipofisarias/radioterapia , Adenoma/patología , Adenoma/cirugía , Adulto , Anciano , Atrofia , Infarto Encefálico/diagnóstico , Infarto Encefálico/etiología , Corteza Cerebral/patología , Corteza Cerebral/efectos de la radiación , Femenino , Hipocampo/patología , Hipocampo/efectos de la radiación , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/cirugía , Periodo Posoperatorio , Traumatismos por Radiación/diagnóstico , Traumatismos por Radiación/etiología , Lóbulo Temporal/patología , Lóbulo Temporal/efectos de la radiación , Sustancia Blanca/patología , Sustancia Blanca/efectos de la radiación , Adulto Joven
20.
Eur J Radiol ; 84(2): 295-300, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25523821

RESUMEN

PURPOSE: The extent to which cognitive dysfunction is related to specific brain abnormalities in patients treated for pituitary macroadenoma is unclear. Therefore, we compared brain abnormalities seen on Magnetic Resonance Imaging (MRI) in patients treated for nonfunctioning pituitary macroadenoma (NFA) with or without impairments in cognitive functioning. METHODS: In this cross-sectional design, a cohort of 43 NFA patients was studied at the University Medical Center Groningen. White matter lesions (WMLs), cerebral atrophy, (silent) brain infarcts and abnormalities of the temporal lobes and hippocampi were assessed on pre-treatment and post-treatment MRI scans. Post-treatment cognitive examinations were performed using a verbal memory and executive functioning test. We compared our patient cohort with large reference populations representative of the Dutch population. RESULTS: One or more impairments on both cognitive tests were frequently observed in treated NFA patients. No treatment effects were found with regard to the comparison between patients with and without impairments in executive functioning. Interestingly, in patients with one or more impairments on verbal memory function, treatment with radiotherapy had been given more frequently (74% in the impaired group versus 40% in the unimpaired group, P=0.025). Patients with or without any brain abnormality on MRI did not differ in verbal memory or executive functioning. CONCLUSIONS: Brain abnormalities on MRI are not observed more frequently in treated NFA patients with impairments compared to NFA patients without impairments in verbal memory or executive functioning. Conversely, the absence of brain abnormalities on MRI does not exclude impairments in cognition.


Asunto(s)
Adenoma/terapia , Encéfalo/patología , Trastornos del Conocimiento/patología , Imagen por Resonancia Magnética , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/terapia , Anciano , Atrofia/diagnóstico , Infarto Encefálico/diagnóstico , Cognición , Estudios Transversales , Femenino , Estudios de Seguimiento , Hipocampo/patología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Lóbulo Temporal/patología
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