Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 7 de 7
Filtrar
1.
Trop Med Int Health ; 28(6): 432-441, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37101377

RESUMO

OBJECTIVE: To determine the prevalence of signs and symptoms of HTLV-1 and 2 infection in paediatric patients. METHODS: We included cohort, case-control and descriptive observational studies that reported the prevalence of signs and symptoms of HTLV-1 and 2 infections in paediatric patients. Searches were performed in MEDLINE® (Ovid), EMBASE and LILACS from inception to the present, and we saturated information with other sources of published and unpublished literature. We decided not to perform meta-analysis according to heterogeneity. RESULTS: A total of eight studies met the inclusion criteria for qualitative analysis. No studies of HTLV-2 were found. Females predominated and there was vertical transmission in nearly 100% of cases. Infective dermatitis was a common manifestation of HTLV in paediatric patients. In addition, persistent hyperreflexia, clonus and the Babinski sign were early neurological alterations observed in patients carrying the virus. CONCLUSION: HTLV screening is recommended in patients presenting infective dermatitis, persistent hyperreflexia, walking disturbances and in those who come from endemic zones.


Assuntos
Dermatite , Infecções por HTLV-I , Vírus Linfotrópico T Tipo 1 Humano , Paraparesia Espástica Tropical , Criança , Feminino , Humanos , Infecções por HTLV-I/epidemiologia , Paraparesia Espástica Tropical/epidemiologia , Reflexo Anormal , Estudos Observacionais como Assunto
2.
Cytogenet Genome Res ; 162(7): 372-377, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36535243

RESUMO

Developmental and epileptic encephalopathy 70 (DEE70) is an epileptic encephalopathy associated with multiple neurological abnormalities and global developmental delay, among other characteristics. It has recently been established that it is caused by a heterozygous variant of the PHACTR1 gene, with currently four cases reported in the literature. This article presents a case report of a patient with DEE70 with a heterozygous variant in the PHACTR1 gene, who also presents a hemizygous variant in the AFF2 gene, associated with FRAXE syndrome. A phenotypic comparison is made between this case and the four other previously reported cases with variants in the PHACTR1 gene. In addition, the possible participation of the PHACTR1 and AFF2 genes in the clinical characteristics of the individual is discussed.


Assuntos
Encefalopatias , Humanos , Encefalopatias/genética , Proteínas Nucleares/genética
3.
Iatreia ; 34(3)sept. 2021.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1534574

RESUMO

Introducción: la parálisis facial neonatal debida a la parálisis de Bell es rara. El mecanismo de parto traumático representa una etiología más común. Caso clínico: neonato, previamente sano, con parto espontáneo no instrumentalizado y sin complicaciones obstétricas, que cursó con parálisis facial derecha aguda. La imagen cerebral fue normal y los hallazgos clínicos compatibles con parálisis de Bell, con buena respuesta al manejo antirretroviral y fisioterapia. Discusión: la mayoría de infantes con parálisis de Bell mejora con o sin tratamiento y sin secuelas graves. No hay evidencia concluyente en la población pediátrica sobre el beneficio de usar esteroides, solos o con antirretrovirales. Actualmente, tampoco existe un consenso sobre la seguridad de usar esteroides posnatales tardíos, que se deben reservar para neonatos sin otra opción. El aciclovir a dosis de 60 mg/Kg/día es seguro en neonatos. Conclusiones: la parálisis de Bell neonatal puede presentar una respuesta favorable a la terapia antirretroviral y fisioterapia, prescindiendo del uso de esteroides.


SUMMARY Introduction: Neonatal facial palsy due to Bell's palsy is rare. A traumatic delivery mechanism represents a common etiology. Clinical case: Neonate, without previous illnesses, born by spontaneous non-instrumentalized delivery and without any obstetric complications; who presented acute right facial palsy, with normal brain imaging and clinical findings compatible with Bell's palsy, who had a good response to antiretroviral management and physical therapy. Discussion: Most infants with Bell's palsy improve with or without treatment, with no serious sequelae. In pediatric population, evidence on benefits of steroids use, alone or with antiretrovirals, has not been conclusive. There is not a current consensus on the safety of late postnatal steroid use, and they should be reserved for neonates who have no other treatment choice. Acyclovir use at 60/mg/Kg/day it's safe in neonates. Conclusions: Neonatal Bell's palsy may present a favorable response to antiretroviral therapy and an adherent physical rehabilitation program, irrespective of steroids use.

4.
Tog (A Coruña) ; 17(2): 150-159, nov. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-198812

RESUMO

OBJETIVOS: estudiar las características del prematuro, la participación de los padres, y la interacción con las co-cupaciones. MÉTODOS: realizamos un estudio cuantitativo, transversal descriptivo de 197 bebés entre 0 y 24 meses de edad corregida en un hospital de tercer nivel, en la ciudad de Cali Colombia. En el grupo interprofesional de CANGUROS se evaluaron los componentes reflejos, tónicos y sensoriales; habilidades motoras, adaptativas e integración social, y factores de desarrollo. Además, se analizó la interacción con las ocupaciones. En el proceso se integró a la familia en un plan de mejoramiento. RESULTADOS: la población mostró notorias dificultades en las habilidades motoras. Manifestaron menor dificultad en las habilidades manipulativas, adaptativas, las respuestas a los estímulos sensoriales y reacciones reflejas. Por último, las dificultades en la interacción social y la alimentación fueron mínimas. CONCLUSIÓN: la pronta actuación e intervención de un equipo interprofesional permitió la identificación temprana de riesgos de desarrollo. Esta temprana identificación e intervención de riesgo y los familiares implicados en la recuperación crearon hábitos y rutinas


OBJECTIVE: To study the characteristics of the premature infant, the participation of parents, and the interaction with co-sharing. METHODS: It is a quantitative, descriptive cross-sectional study of 197 babies between 0 and 24 months of corrected age in a tertiary hospital, in the city of Cali, Colombia. In the interprofessional group of KANGAROOs, reflex, tonic and sensory components were evaluated; motor skills, adaptive and social integration, and developmental factors. In addition, the interaction with occupations was analyzed. In the process, the family was integrated into an improvement plan. RESULTS: Notorious difficulties were found in motor skills. On the other hand, less difficulty was found in manipulative and adaptive skills, responses to sensory stimuli and reflex reactions. Finally, very few difficulties were found in social interaction and feeding. CONCLUSION: The prompt action and intervention of an interprofessional team allows the early identification of development risks. This early identification facilitates intervention and empowers the family in co-occupations in order to create habits and routines


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Recém-Nascido Prematuro/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Terapia Ocupacional/métodos , Exame Neurológico/métodos , Transtornos do Neurodesenvolvimento/terapia , Estudos Transversais , Transtornos do Neurodesenvolvimento/reabilitação , Idade Gestacional , Relações Interpessoais
5.
CES med ; 33(3): 208-214, sep.-dic. 2019. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1055550

RESUMO

Resumen El síndrome de opsoclonus-mioclonus-ataxia es una entidad rara que cursa con síntomas motores, neurocognitivos y psiquiátricos, con frecuencia marcadamente debilitantes. El síndrome se reporta con mayor frecuencia en adultos que en niños, la etiología es variada, pero en pediatría se presenta en la mayoría de los casos como un síndrome paraneoplásico. En este contexto la neoplasia más frecuentemente asociada es el neuroblastoma. La evidencia actual apoya la tesis de que este es un síndrome mediado inmunológicamente al haberse identificado una serie de auto-anticuerpos en los pacientes afectados, y a que muchos de ellos responden a terapia inmunosupresora. La importancia del reconocimiento de este síndrome radica en que existe tratamiento médico y quirúrgico que podría mejorar el pronóstico neurológico y psiquiátrico. Presentamos el caso de una paciente que se presentó con este síndrome en nuestra institución.


Abstract The opsoclonus-myoclonus-ataxia syndrome is a rare entity that presents with motor, neurocognitive and psychiatric symptoms, often markedly de bilitating. The syndrome is reported more frequently in adults than in chil dren, the etiology is varied, but in pediatrics it occurs in most cases as a paraneoplastic syndrome. In this context, the most frequently associated neoplasm is neuroblastoma followed by gynecological tumors. The current evidence supports the thesis that this is an immune-mediated syndrome because a series of circulating autoantibodies has been described in the affected patients, in addition to many of them responding to immuno suppressive therapy. The importance of recognizing this syndrome is that there is medical/surgical treatment available that could improve the neu rological and psychiatric prognosis. Next, we present the case of a patient who presented with this syndrome in our institution.

6.
Colomb Med (Cali) ; 49(3): 244-248, 2018 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-30410200

RESUMO

INTRODUCTION: Primary stabbing headache (or "ice pick headache") is an alteration characterized by brief jabs (short stabs of pain, lasting ~3 seconds), which appear spontaneously, irregularly, and affecting unilaterally or bilaterally. Indomethacin has traditionally been used as the main therapeutic option. However, this drug is ineffective in a considerable percentage of patients and can generate multiple adverse effects that occur at therapeutic doses. CLINICAL CASE: A 7-year-old male patient with primary stabbing headache of mild to moderate intensity, lasting 3 to 4 seconds, without relevant history, with normal neurodevelopment, neurological examination and neuroimaging; no triggers were identified. It was started therapeutic trial with Coenzyme Q10; however, no improvement in the symptoms was identified. TREATMENT AND OUTCOMES: A therapeutic management was carried out with Melatonin, which led to complete remission of the symptoms; without adverse effects in the posterior follow-up months. CLINICAL AND SCIENTIFIC RELEVANCE: There is little information regarding effective and safe treatments for primary stabbing headache in children. The present case identifies Melatonin as an innovative, effective and safe therapeutic alternative in the treatment of primary stabbing headache in children. This is a significant advance in the understanding of primary stabbing headache in the pediatric population. CONCLUSION: Melatonin may be an effective and safe therapeutic option for the treatment of primary stabbing headache in pediatric patients. It is necessary to deepen its research, in order to establish its use in a clinical practice guide.


INTRODUCCIÓN: La cefalea punzante primaria, es una alteración que se caracteriza por punzadas breves (∼3 segundos), que aparecen espontáneamente, de forma irregular y afectación unilateral o bilateral. Tradicionalmente se ha utilizado Indometacina como opción terapéutica principal. Sin embargo, este medicamento es inefectivo en un porcentaje considerable de pacientes y puede generar múltiples efectos adversos que se presentan a dosis terapéuticas. CASO CLÍNICO: Paciente masculino de 7 años de edad con cefalea punzante primaria de intensidad leve a moderada con una duración entre 3 y 4 segundos sin antecedentes relevantes, con neurodesarrollo, examen neurológico y de neuroimagen normales; no se identificaron desencadenantes. Se inició prueba terapéutica con Coenzima Q10, sin embargo no se identificó mejoría en los síntomas. TRATAMIENTO Y RESULTADOS: Se realizó un manejo terapéutico con Melatonina que conllevó a remisión completa de la sintomatología y sin efectos adversos en los meses posteriores de seguimiento. RELEVANCIA CLÍNICA Y CIENTÍFICA: Existe poca información respecto a tratamientos efectivos y seguros para cefalea punzante primaria en niños. El presente caso identifica la Melatonina como una alternativa terapéutica innovadora, efectiva y segura en el tratamiento de la cefalea punzante primaria en niños. Lo anterior constituye un avance significativo en la comprensión de la cefalea punzante primaria en la población pediátrica. CONCLUSIÓN: La melatonina puede ser una opción terapéutica efectiva y segura para el tratamiento de la cefalea punzante primaria en pacientes pediátricos. Se requiere ahondar en su investigación para establecer su uso en una guía de práctica clínica.


Assuntos
Antioxidantes/uso terapêutico , Transtornos da Cefaleia Primários/prevenção & controle , Melatonina/uso terapêutico , Antioxidantes/efeitos adversos , Criança , Seguimentos , Transtornos da Cefaleia Primários/tratamento farmacológico , Humanos , Masculino , Melatonina/efeitos adversos , Resultado do Tratamento , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico
7.
Colomb. med ; 49(3): 244-248, July-Sept. 2018. graf
Artigo em Inglês | LILACS | ID: biblio-974993

RESUMO

Abstract Introduction: Primary stabbing headache (or "ice pick headache") is an alteration characterized by brief jabs (short stabs of pain, lasting ~3 seconds), which appear spontaneously, irregularly, and affecting unilaterally or bilaterally. Indomethacin has traditionally been used as the main therapeutic option. However, this drug is ineffective in a considerable percentage of patients and can generate multiple adverse effects that occur at therapeutic doses. Clinical case: A 7-year-old male patient with primary stabbing headache of mild to moderate intensity, lasting 3 to 4 seconds, without relevant history, with normal neurodevelopment, neurological examination and neuroimaging; no triggers were identified. It was started therapeutic trial with Coenzyme Q10; however, no improvement in the symptoms was identified. Treatment and outcomes: A therapeutic management was carried out with Melatonin, which led to complete remission of the symptoms; without adverse effects in the posterior follow-up months. Clinical and scientific relevance: There is little information regarding effective and safe treatments for primary stabbing headache in children. The present case identifies Melatonin as an innovative, effective and safe therapeutic alternative in the treatment of primary stabbing headache in children. This is a significant advance in the understanding of primary stabbing headache in the pediatric population. Conclusion: Melatonin may be an effective and safe therapeutic option for the treatment of primary stabbing headache in pediatric patients. It is necessary to deepen its research, in order to establish its use in a clinical practice guide.


Resumen Introducción: La cefalea punzante primaria, es una alteración que se caracteriza por punzadas breves (∼3 segundos), que aparecen espontáneamente, de forma irregular y afectación unilateral o bilateral. Tradicionalmente se ha utilizado Indometacina como opción terapéutica principal. Sin embargo, este medicamento es inefectivo en un porcentaje considerable de pacientes y puede generar múltiples efectos adversos que se presentan a dosis terapéuticas. Caso clínico: Paciente masculino de 7 años de edad con cefalea punzante primaria de intensidad leve a moderada con una duración entre 3 y 4 segundos sin antecedentes relevantes, con neurodesarrollo, examen neurológico y de neuroimagen normales; no se identificaron desencadenantes. Se inició prueba terapéutica con Coenzima Q10, sin embargo no se identificó mejoría en los síntomas. Tratamiento y resultados: Se realizó un manejo terapéutico con Melatonina que conllevó a remisión completa de la sintomatología y sin efectos adversos en los meses posteriores de seguimiento. Relevancia clínica y científica: Existe poca información respecto a tratamientos efectivos y seguros para cefalea punzante primaria en niños. El presente caso identifica la Melatonina como una alternativa terapéutica innovadora, efectiva y segura en el tratamiento de la cefalea punzante primaria en niños. Lo anterior constituye un avance significativo en la comprensión de la cefalea punzante primaria en la población pediátrica. Conclusión: La melatonina puede ser una opción terapéutica efectiva y segura para el tratamiento de la cefalea punzante primaria en pacientes pediátricos. Se requiere ahondar en su investigación para establecer su uso en una guía de práctica clínica.


Assuntos
Criança , Humanos , Masculino , Transtornos da Cefaleia Primários/prevenção & controle , Melatonina/uso terapêutico , Antioxidantes/uso terapêutico , Seguimentos , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico , Resultado do Tratamento , Transtornos da Cefaleia Primários/tratamento farmacológico , Melatonina/efeitos adversos , Antioxidantes/efeitos adversos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...