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1.
Nat Genet ; 50(8): 1093-1101, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-30013181

RESUMEN

Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding αN-catenin, in patients with a distinct recessive form of pachygyria. CTNNA2 was expressed in human cerebral cortex, and its loss in neurons led to defects in neurite stability and migration. The αN-catenin paralog, αE-catenin, acts as a switch regulating the balance between ß-catenin and Arp2/3 actin filament activities1. Loss of αN-catenin did not affect ß-catenin signaling, but recombinant αN-catenin interacted with purified actin and repressed ARP2/3 actin-branching activity. The actin-binding domain of αN-catenin or ARP2/3 inhibitors rescued the neuronal phenotype associated with CTNNA2 loss, suggesting ARP2/3 de-repression as a potential disease mechanism. Our findings identify CTNNA2 as the first catenin family member with biallelic mutations in humans, causing a new pachygyria syndrome linked to actin regulation, and uncover a key factor involved in ARP2/3 repression in neurons.


Asunto(s)
Complejo 2-3 Proteico Relacionado con la Actina/genética , Movimiento Celular/genética , Corteza Cerebral/fisiología , Neuronas/patología , alfa Catenina/genética , Complejo 2-3 Proteico Relacionado con la Actina/metabolismo , Animales , Corteza Cerebral/metabolismo , Corteza Cerebral/patología , Embrión de Mamíferos , Genoma Humano , Humanos , Ratones , Ratones Endogámicos C57BL , Mutación , Proteínas del Tejido Nervioso/genética , Neuronas/metabolismo , Linaje , alfa Catenina/metabolismo
2.
Arch. argent. pediatr ; 115(6): 349-355, dic. 2017. ilus
Artículo en Inglés, Español | LILACS, BINACIS | ID: biblio-887397

RESUMEN

Introducción: El objetivo fue describir los resultados de la resonancia magnética nuclear (RMN) en niños con cefalea. Población y métodos: Revisión retrospectiva de las historias clínicas de los pacientes ingresados a los consultorios externos de neurología pediátrica con síntomas de cefalea entre enero de 2013 y diciembre de 2014. Resultados: Se ingresaron 478 pacientes (273 mujeres, 205 varones) con síntomas de cefalea. Los tipos de cefalea fueron migraña en 218 pacientes (45, 6%), cefalea tensional en 159 (33, 3%), cefalea secundaria en 39 (8, 2%) y cefalea inespecífica en 62 (13%). Se realizó una RMN de cerebro a 407 pacientes (85%); se observaron anomalías cerebrales en 128 pacientes (31, 4%); cinco tenían anomalías cerebrales relevantes para cefalea, incluso tumores. Entre los otros 123 pacientes, los hallazgos casuales más frecuentes correspondieron a 42 casos (10%) de anomalías inespecíficas de la sustancia blanca, 17 casos (4%) de espacios perivasculares agrandados, 17 casos (4%) de quiste aracnoideo, 16 casos (3, 9%) de ventrículos asimétricos, 12 casos (2, 9%) de malformación de Chiari tipo 1 y ectopia amigdalina cerebelosa. Asimismo, 17 pacientes (4, 1%) tenían anomalías extracerebrales en la RMN, entre otras, sinusitis, engrosamiento de la mucosa y quistes de retención de los senos paranasales. Conclusiones: A pesar del incremento en la realización de estudios de neuroimagenología, la contribución de la RMN de cerebro al diagnóstico y el tratamiento de los niños con cefalea es aún baja.


Introduction. The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache. Population and methods. Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014. Results. A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache. The types of headache were migraine in 218 (45.6%), tension-type in 159 (33.3%), secondary in 39 (8.2%) and unspecified headaches in 62 (13%) patients. Brain MRI was performed in 407 (85%) patients and revealed cerebral abnormalities in 128 (31.4%) patients; 5 patients had cerebral abnormalities relevant with headache, including tumors. Amongst the others 123 patients, the most common findings were 42 cases (10%) of nonspecific white matter abnormalities, 17 cases (4%) of enlarged perivascular spaces, 17 cases (4%) of arachnoid cyst, 16 cases (3.9%) of asymmetric ventricles, 12 cases (2.9%) with Chiari type I and cerebellar tonsillar ectopia. Also, 17 (4.1%) patients had extra-cerebral MRI abnormalities including sinusitis, mucosal thickening and retention cysts of sinuses. Conclusions. In this study, the contribution of brain MRI in the diagnosis and management of the children with headache was still low.


Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética , Cefalea/diagnóstico por imagen , Trastornos Migrañosos/diagnóstico por imagen , Turquía , Estudios Retrospectivos
3.
Arch Argent Pediatr ; 115(6): e349-e355, 2017 Dec 01.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29087111

RESUMEN

INTRODUCTION: The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache. POPULATION AND METHODS: Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014. RESULTS: A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache. The types of headache were migraine in 218 (45.6%), tension-type in 159 (33.3%), secondary in 39 (8.2%) and unspecified headaches in 62 (13%) patients. Brain MRI was performed in 407 (85%) patients and revealed cerebral abnormalities in 128 (31.4%) patients; 5 patients had cerebral abnormalities relevant with headache, including tumors. Amongst the others 123 patients, the most common findings were 42 cases (10%) of nonspecific white matter abnormalities, 17 cases (4%) of enlarged perivascular spaces, 17 cases (4%) of arachnoid cyst, 16 cases (3.9%) of asymmetric ventricles, 12 cases (2.9%) with Chiari type I and cerebellar tonsillar ectopia. Also, 17 (4.1%) patients had extra-cerebral MRI abnormalities including sinusitis, mucosal thickening and retention cysts of sinuses. CONCLUSIONS: In this study, the contribution of brain MRI in the diagnosis and management of the children with headache was still low.


INTRODUCCIÓN: El objetivo fue describir los resultados de la resonancia magnética nuclear (RMN) en niños con cefalea. POBLACIÓN Y MÉTODOS: Revisión retrospectiva de las historias clínicas de los pacientes ingresados a los consultorios externos de neurología pediátrica con síntomas de cefalea entre enero de 2013 y diciembre de 2014. RESULTADOS: Se ingresaron 478 pacientes (273 mujeres, 205 varones) con síntomas de cefalea. Los tipos de cefalea fueron migraña en 218 pacientes (45,6%), cefalea tensional en 159 (33,3%), cefalea secundaria en 39 (8,2%) y cefalea inespecífica en 62 (13%). Se realizó una RMN de cerebro a 407 pacientes (85%); se observaron anomalías cerebrales en 128 pacientes (31,4%); cinco tenían anomalías cerebrales relevantes para cefalea, incluso tumores. Entre los otros 123 pacientes, los hallazgos casuales más frecuentes correspondieron a 42 casos (10%) de anomalías inespecíficas de la sustancia blanca, 17 casos (4%) de espacios perivasculares agrandados, 17 casos (4%) de quiste aracnoideo, 16 casos (3,9%) de ventrículos asimétricos, 12 casos (2,9%) de malformación de Chiari tipo 1 y ectopia amigdalina cerebelosa. Asimismo, 17 pacientes (4,1%) tenían anomalías extracerebrales en la RMN, entre otras, sinusitis, engrosamiento de la mucosa y quistes de retención de los senos paranasales. CONCLUSIONES: A pesar del incremento en la realización de estudios de neuroimagenología, la contribución de la RMN de cerebro al diagnóstico y el tratamiento de los niños con cefalea es aún baja.


Asunto(s)
Encéfalo/diagnóstico por imagen , Cefalea/diagnóstico por imagen , Imagen por Resonancia Magnética , Trastornos Migrañosos/diagnóstico por imagen , Adolescente , Niño , Femenino , Humanos , Masculino , Estudios Retrospectivos , Turquía
4.
Brain Dev ; 38(9): 827-34, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27209549

RESUMEN

OBJECTIVE: Sydenham's chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite being known as a benign, self-limiting condition, recurrences and persistence of symptoms can be seen. In this study, we aimed to evaluate retrospectively the clinical and laboratory features of patients with Sydenham's chorea and the rate and the course of recurrences, and to assess the risk of recurrences. METHODS: The study was a retrospective study conducted in a tertiary hospital. Patients with Sydenham's chorea who were admitted to our outpatient clinics between January 2013 and June 2015 were included. Both newly diagnosed and follow-up patients were enrolled during this period. We retrospectively reviewed the medical charts of the patients. RESULTS: There were 90 patients with female predominance. The mean age of onset was 11±2.4years. Complete remission was maintained in 77 patients (85.6%) at 1-6months and 4 patients had symptoms at more than 12months. Patients were followed for 6months to 9years. The recurrence rate was 16%. When we compared recurrent patients with the non-recurrent group, complete remission in 6months, the presence of persistent chorea, and regular use of prophylaxis were significantly different between the 2 groups. CONCLUSIONS: Sydenham's chorea is still an important health problem and has high morbidity in patients with recurrent and persistent chorea. The irregular usage of antibiotic prophylaxis, failure to achieve remission within 6months, and prolongation of symptoms for more than 1year are risk factors for recurrence of chorea.


Asunto(s)
Corea/diagnóstico , Adolescente , Edad de Inicio , Niño , Preescolar , Corea/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pronóstico , Recurrencia , Estudios Retrospectivos , Centros de Atención Terciaria , Turquía
5.
J Child Neurol ; 31(7): 938-41, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26893310

RESUMEN

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2 Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.


Asunto(s)
Glutamato-ARNt Ligasa/genética , Leucoencefalopatías/genética , Mutación , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Lactante , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/etiología
6.
Iran J Pediatr ; 25(6): e3885, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26635944

RESUMEN

BACKGROUND: There is an increasing attention towards the relationship between oxidative stress and epilepsy. The effect of antiepileptic drugs on oxidant status is of major interest. Antiepileptic drugs can increase levels of free radicals, which consequently might lead to seizures. Carbamazepine (CBZ) is an antiepileptic drug commonly used in childhood and adolescence. OBJECTIVES: Therefore we aimed to investigate the effects of CBZ on total antioxidant status, total oxidant stress, and oxidative stress index. PATIENTS AND METHODS: The study included 40 epileptic patients and 31 healthy children between 4 and 12 years of age. Serum CBZ level, total antioxidant capacity and total oxidant status were measured. Oxidative stress index was also calculated both in controls and patients. RESULTS: In the epileptic group, decreased levels of total antioxidant capacity, increased total oxidative stress and oxidative stress index levels were found. Positive correlation between plasma CBZ levels and total oxidant status was observed. CONCLUSIONS: Antioxidant action could not be playing any role in antiepileptic effect of CBZ. Furthermore, increased oxidative stress induced by CBZ could be the cause of CBZ-induced seizures. Therefore combining CBZ with antioxidants could be beneficial.

7.
Clin Appl Thromb Hemost ; 21(6): 546-9, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24243939

RESUMEN

In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, followed at Department of Pediatrics, Faculty of Medicine, Yüzüncü Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.


Asunto(s)
Antígenos CD/sangre , Síndrome de Down/sangre , Linfocitos/metabolismo , Antígenos CD/inmunología , Niño , Preescolar , Susceptibilidad a Enfermedades , Síndrome de Down/inmunología , Femenino , Humanos , Lactante , Infecciones/sangre , Infecciones/inmunología , Linfocitos/inmunología , Masculino
8.
Rev. bras. anestesiol ; 64(5): 320-325, Sep-Oct/2014. tab
Artículo en Inglés | LILACS | ID: lil-723217

RESUMEN

Background and objectives: The induction and inhibition of cytochrome P450 isoenzymes by antiepileptic drugs lead to changes in the clearance of anesthetic drugs eliminated via hepatic metabolism. We investigated the duration of the sedation and additional anesthetic needs during magnetic resonance imaging in epileptic children receiving antiepileptic drugs that cause either enzyme induction or inhibition. Methods: In American Society of Anesthesiology I–II, 120 children aged 3–10 years were included. Group 1: children using antiepileptic drugs that cause cytochrome P450 enzyme induction; Group 2: those using antiepileptic drugs that cause inhibition; and Group 3: those that did not use antiepileptic drugs. Sedation was induced with the use of 0.05 mg kg−1 midazolam and 1 mg kg−1 propofol. An additional 0.05 mg kg−1 of midazolam and rescue propofol (0.5 mg kg−1) were administered and repeated to maintain sedation. The duration of sedation and the additional sedation needed were compared. Results: The duration of the initial dose was significantly shorter in Group I compared with groups II and III (p = 0.001, p = 0.003, respectively). It was significantly longer in Group II compared with groups I and III (p = 0.001, p = 0.029, respectively). The additional midazolam needed for adequate sedation was increased in Group I when compared with groups II and III (p = 0.010, p = 0.001, respectively). In addition, the rescue propofol dose was significantly higher only in Group I when compared with Group III (p = 0.002). Conclusion: In epileptic children, the response variability to the initial sedative agents during the magnetic resonance imaging procedure resulting from the inhibition or induction of the cytochrome P450 isoenzymes by the antiepileptic drugs mandated the titration of anesthetic agents. .


Justificativa e objetivos: A indução e a inibição das isoenzimas do citocromo P450 pelos medicamentos antiepilépticos levam a alterações na depuração de medicamentos anestésicos eliminados pelo metabolismo hepático. Investigamos a duração da sedação e a necessidade adicional de anestésicos durante a ressonância magnética em crianças epilépticas que receberam antiepilépticos que causam a indução ou a inibição de enzimas. Métodos: Foram incluídas no estudo 120 crianças, estado físico ASA I-II, entre 3-10 anos. Grupo 1: em uso de antiepilépticos que causam a indução de enzimas do citocromo P450; Grupo 2: em uso de antiepilépticos que causam a inibição de enzimas do citocromo P450; e Grupo 3: que não usavam antiepilépticos. A sedação foi induzida com midazolam (0,05 mg kg−1) e propofol (1 mg kg−1). Um adicional de 0,05 mg kg−1 de midazolam e resgate com 0,5 mg kg−1 de propofol foram administrados e repetidos para manter a sedação. A duração da sedação e a sedação adicional necessária foram comparadas. Resultados: A duração da dose inicial foi significativamente menor no Grupo I em comparação com os grupos II e III (p = 0,001, p = 0,003, respectivamente) e significativamente maior no Grupo II em comparação com os grupos I e III (p = 0,001, p = 0,029, respectivamente). A necessidade de midazolam adicional para sedação adequada foi maior no Grupo I em comparação com os grupos II e III (p = 0,010, p = 0,001, respectivamente). Além disso, a dose de resgate de propofol foi significativamente maior apenas no Grupo I em comparação com o Grupo III (p = 0,002). Conclusão: Em crianças epilépticas, a variabilidade ...


Justificación y objetivos: La inducción e inhibición de las isoenzimas del citocromo P450 por los medicamentos antiepilépticos conllevan alteraciones en la depuración de medicamentos anestésicos eliminados por el metabolismo hepático. Investigamos la duración de la sedación y la necesidad adicional de anestésicos durante la resonancia magnética en niños epilépticos que reciben antiepilépticos que causan la inducción o inhibición de enzimas. Métodos: Ciento veinte niños, estado físico ASA I-II, con edades entre los 3 y los 10 años, fueron incluidos en el estudio. Grupo i: niños en tratamiento con antiepilépticos que causan la inducción de enzimas del citocromo P450; grupo ii: niños en tratamiento con antiepilépticos que causan la inhibición; y grupo iii: niños que no estaban bajo en tratamiento con antiepilépticos. La sedación fue inducida con midazolam (0,05 mg/kg−1) y propofol (1 mg/kg−1). Se administró una dosis adicional de 0,05 mg/kg−1 de midazolam y una de rescate con 0,5 mg/kg−1 de propofol y fueron repetidas para mantener la sedación. Se compararon la duración de la sedación y la sedación adicional necesaria. Resultados: La duración de la dosis inicial fue significativamente menor en el grupo i en comparación con los grupos ii y iii (p = 0,001; p = 0,003, respectivamente) y significativamente mayor en el grupo iii en comparación con los grupos i y iii (p = 0,001; p = 0,029 respectivamente). La necesidad de midazolam adicional para la sedación adecuada fue mayor en el grupo i en comparación con los grupos ii y iii (p = 0,010; p = 0,001 respectivamente). Además, la dosis de rescate de propofol fue significativamente mayor solamente en el grupo i en comparación con el grupo iii (p = 0,002). Conclusión: ...


Asunto(s)
Humanos , Preescolar , Niño , Espectroscopía de Resonancia Magnética/métodos , Sedación Consciente/instrumentación , Epilepsia/fisiopatología , Anticonvulsivantes/farmacología
9.
Rev Bras Anestesiol ; 64(5): 320-5, 2014.
Artículo en Portugués | MEDLINE | ID: mdl-25168436

RESUMEN

BACKGROUND AND OBJECTIVES: The induction and inhibition of cytochrome P450 isoenzymes by antiepileptic drugs lead to changes in the clearance of anesthetic drugs eliminated via hepatic metabolism. We investigated the duration of the sedation and additional anesthetic needs during magnetic resonance imaging in epileptic children receiving antiepileptic drugs that cause either enzyme induction or inhibition. METHODS: In American Society of Anesthesiology I-II, 120 children aged 3-10 years were included. Group 1: children using antiepileptic drugs that cause cytochrome P450 enzyme induction; Group 2: those using antiepileptic drugs that cause inhibition; and Group 3: those that did not use antiepileptic drugs. Sedation was induced with the use of 0.05 mg kg(-1) midazolam and 1 mg kg(-1) propofol. An additional 0.05 mg kg(-1) of midazolam and rescue propofol (0.5 mg kg(-1)) were administered and repeated to maintain sedation. The duration of sedation and the additional sedation needed were compared. RESULTS: The duration of the initial dose was significantly shorter in Group I compared with groups II and III (p = 0.001, p = 0.003, respectively). It was significantly longer in Group II compared with groups I and III (p = 0.001, p = 0.029, respectively). The additional midazolam needed for adequate sedation was increased in Group I when compared with groups II and III (p = 0.010, p = 0.001, respectively). In addition, the rescue propofol dose was significantly higher only in Group I when compared with Group III (p = 0.002). CONCLUSION: In epileptic children, the response variability to the initial sedative agents during the magnetic resonance imaging procedure resulting from the inhibition or induction of the cytochrome P450 isoenzymes by the antiepileptic drugs mandated the titration of anesthetic agents.

10.
Semin Ophthalmol ; 29(3): 142-5, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-23869976

RESUMEN

PURPOSE: To investigate nervus abducens and extraocular mucles in patients with Type 1 Duane's retraction syndrome using high-definition magnetic resonance imaging. METHODS: The study included 10 patients with Type I Duane's retraction syndrome who underwent magnetic resonance imaging (MRI) of the brain and orbits. RESULTS: Overall, 10 cases were included in the study. There were seven women and three men. The mean age was 5.2 years (1-15 years). MRI of the abducens nerve was performed in all cases. Of the cases, the left eye was involved in eight cases, whereas the right eye was involved in two cases. There was no bilateral eye involvement. Among the 10 patients clinically diagnosed as Type 1 Duane's retraction syndrome, the abducens nerve could not be visualized in eight cases, whereas the nerve was hypoplastic in one case and bilateral abducens nerves were present in one case by MRI. The extraocular muscles were normal in all cases on T2 weighted coronal MRI of the orbits. CONCLUSION: Absence of abducens nerve and normal extraocular muscles was detected in patients with Type 1 Duane's retraction syndrome at the affected side.


Asunto(s)
Enfermedades del Nervio Abducens/diagnóstico , Nervio Abducens/anomalías , Síndrome de Retracción de Duane/diagnóstico , Imagen por Resonancia Magnética , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Músculos Oculomotores/patología
11.
Am J Hum Genet ; 92(3): 468-74, 2013 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-23472759

RESUMEN

Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.


Asunto(s)
Encéfalo/anomalías , Laminina/genética , Distrofias Musculares/genética , Malformaciones del Sistema Nervioso/genética , Eliminación de Secuencia , Síndrome de Walker-Warburg/genética , Membrana Basal/metabolismo , Membrana Basal/patología , Encéfalo/metabolismo , Encéfalo/patología , Cerebelo/metabolismo , Cerebelo/patología , Corteza Cerebral/metabolismo , Corteza Cerebral/patología , Encefalocele/genética , Encefalocele/metabolismo , Encefalocele/patología , Femenino , Predisposición Genética a la Enfermedad , Homocigoto , Humanos , Masculino , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Malformaciones del Sistema Nervioso/metabolismo , Malformaciones del Sistema Nervioso/patología , Neuroglía/metabolismo , Neuroglía/patología , Neuronas/metabolismo , Neuronas/patología , Síndrome de Walker-Warburg/metabolismo , Síndrome de Walker-Warburg/patología
12.
Toxicol Ind Health ; 29(8): 746-52, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22491720

RESUMEN

Oxidative stress is accepted as a potential responsible mechanism in the pathogenesis of radiocontrast media (RCM)-induced hepatotoxicity. Therefore, we aimed to investigate the protective effects of ebselen against RCM-induced hepatotoxicity by measuring tissue oxidant/antioxidant parameters and histological changes in rats. Wistar albino rats were randomly separated into four groups consisting of eight rats per group. Normal saline was given to the rats in control group (group 1). RCM was given to the rats in group 2, and both RCM and ebselen were given to the rats in group 3. Only ebselen was given to the rats in group 4. Liver sections of the killed animals were analyzed to measure the levels of malondialdehyde (MDA) and activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px), as well as histopathological changes. In RCM group, SOD and CAT levels were found increased. In RCM-ebselen group, MDA, SOD and CAT levels were found decreased. In RCM-ebselen group, however, GSH-Px activities of liver tissue increased. All these results indicated that ebselen produced a protective mechanism against RCM-induced hepatotoxicity and took part in oxidative stress.


Asunto(s)
Azoles/toxicidad , Enfermedad Hepática Inducida por Sustancias y Drogas/tratamiento farmacológico , Medios de Contraste/toxicidad , Hígado/efectos de los fármacos , Compuestos de Organoselenio/toxicidad , Animales , Antioxidantes/farmacología , Catalasa/metabolismo , Glutatión Peroxidasa/metabolismo , Isoindoles , Hígado/metabolismo , Hígado/patología , Masculino , Malondialdehído/metabolismo , Estrés Oxidativo/efectos de los fármacos , Ratas , Ratas Wistar , Superóxido Dismutasa/metabolismo
13.
Neuroophthalmology ; 37(6): 254-256, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-28167996

RESUMEN

Vertebrobasilar dolichoectasia is characterized by dilatation, tortuosity, and marked elongation of the vertebral and basilar arteries. Dolichoectatic arteries usually have thin arterial walls secondary to degeneration of the internal elastic lamina, reticular fibre deficiency, and smooth muscle atrophy. This anomaly is relatively uncommon and generally asymptomatic. Clinical manifestations of dolichoectasia result from the compression and displacement of adjacent structures, causing cranial nerve palsy, obstructive hydrocephalus, or ischaemic stroke. The authors present a case in which vertebrobasilar dolichoectasia led to the development of bilateral abducens nerve paralysis in a 9-year-old girl.

14.
Eur J Med Genet ; 55(1): 37-42, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21968327

RESUMEN

Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations.


Asunto(s)
Enfermedades Renales/genética , Proteínas de la Membrana/genética , Mutación , Síndrome de Wolfram/genética , Adolescente , Secuencia de Aminoácidos , Niño , Preescolar , Cromosomas Humanos Par 4/genética , Cromosomas Humanos Par 4/metabolismo , Consanguinidad , Femenino , Células HEK293 , Homocigoto , Humanos , Enfermedades Renales/diagnóstico , Enfermedades Renales/patología , Masculino , Datos de Secuencia Molecular , Linaje , Turquía/epidemiología , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/patología , Adulto Joven
15.
Iran J Radiol ; 9(4): 220-2, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23408171

RESUMEN

The ribs are essential structures of the osseous thorax that provide certain significant information and aid interpretation of radiologic images in daily routine practice. Intrathoracic rib is a rare congenital anomaly that is usually discovered incidentally, but may cause in vain interventions in case of being unaware. We herein report an intrathoracic rib in a girl whose chest X-ray was strange enough to obtain a spiral computed tomography (CT) scanning for a definitive diagnosis afterwards.

16.
J Child Neurol ; 26(1): 25-30, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20525941

RESUMEN

The authors examined clinical outcome and cranial magnetic resonance imaging (MRI) findings in infants with hypoglycemia to determine the effects of hypoglycemia on the developing brain. A total of 110 infants with hypoglycemia were included in the study. Of the patients, 36 were females and 74 were males. The age of the infants was between 1 day and 22 months. Of the 110 infants, 47 were preterm neonates, 40 were term neonates, and 23 were older than 28 days. No difference in serum glucose level was noted between symptomatic and asymptomatic infants. The most common observed abnormal findings were hyperintense lesions, encephalomalacia, and cerebral atrophy. Abnormal MRI findings were found in 4% of preterm infants, in 32.5% of term infants, and in 43.5% of older infants. Abnormal MRI findings were statistically significantly more common in symptomatic infants than in asymptomatic infants. Of the infants, 45.5% of hypoglycemic infants had cerebral palsy and/or cerebral palsy plus epilepsy.


Asunto(s)
Encéfalo/patología , Parálisis Cerebral/etiología , Epilepsia/etiología , Hipoglucemia/complicaciones , Hipoglucemia/patología , Análisis de Varianza , Parálisis Cerebral/patología , Epilepsia/patología , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Resultado del Tratamiento
17.
Indian J Occup Environ Med ; 14(1): 17-9, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20808663

RESUMEN

Mercury exists as organic inorganic and elementary forms in nature and is one of the most toxic metals that are poisonous for human beings. Mercury is commonly used in many different sectors of industry such as in insects formulas, agriculture products, lamps, batteries, paper, dyes, electrical/electronic devices, jewelry, and in dentistry. In this study, two siblings (one a 7-year-old boy and the other a 13 years old girl) are reported who developed chronic mercury poisoning as a result of long-term contact with batteries. Our aim is to emphasize the importance of mercury poisoning that is extremely rarely seen in childhood.

18.
J Clin Res Pediatr Endocrinol ; 2(4): 159-63, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21274316

RESUMEN

OBJECTIVE: The aim of this study was to estimate the prevalence of overweight and obesity in school children in Eastern Turkey. METHODS: This study included 9048 school children aged 6-18 years. The subjects were classified as overweight and obese, according to the International Obesity Task Force. RESULTS: We found prevalence of overweight of 11.1% in the studied population. It was detected that 2.2% of the population in the study was obese; 2.1% of males and 2.3% of females. While the prevalence of obesity was extremely low before 9 ages and after 15, it reached to high values at puberty and just before pubertal period in boys. The prevalence of overweight was higher in girls and reached to peak point at pubertal ages. Generally, the prevalence of obesity and overweight was slightly higher in girls than in boys, although the boys were more obese in prepubertal ages. CONCLUSION: Overweight and obesity are concerns for children and adolescents in low socio-economic status regions as well.


Asunto(s)
Obesidad/epidemiología , Sobrepeso/epidemiología , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , Pubertad , Turquía/epidemiología
20.
Int J Neurosci ; 119(10): 1804-9, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19922387

RESUMEN

OBJECTIVE: In this study, auditory brainstem potentials (ABPs) were studied in children with Herpes simplex encephalitis (HSE) to determine the ABP abnormalities in HSE during childhood. We also wished to determine whether or not to use ABP in early diagnosis of HSE. METHOD: The study includes 28 children; eight children with acute HSE, nine with nonspecific encephalitis, and 11 healthy age-matched control subjects. The diagnosis of HSE was confirmed by the demonstration of Herpes simplex virus type 1 in CSF by polymerase chain reaction. Recordings of ABPs were performed by using Nihon Kohden Neuropack 2 device. RESULTS: The study includes eight children (four females and four males) with acute HSE, nine children (five males and four females) with nonspecific encephalitis, and 11 healthy age-matched control subjects (six males and five females). Age ranges of the patients and controls were between six months and 12 years. There was not statistically significant difference between the groups for age and gender (p > .05). There were significant differences in the mean latencies of the wave IV on the right ear and in the mean interpeak latencies (IPLs) of the waves III-V on the right and left ears between the nonspecific encephalitis group and the control group (p < .05). However, there were no statistically significant differences between the HSV and control groups (p > .05). In addition, there was no significant difference between HSV and nonspecific groups (p > .05). CONCLUSIONS: Our findings revealed that there were mild ABP abnormalities in children with nonspecific encephalitis, but no ABP abnormality in patients with HSV encephalitis. However, we think that more extensive and detailed studies should be performed to determine whether or not there were ABP abnormalities in childhood HSV encephalitis.


Asunto(s)
Encefalitis por Herpes Simple/fisiopatología , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Estimulación Acústica/métodos , Enfermedad Aguda , Análisis de Varianza , Estudios de Casos y Controles , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
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