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1.
Child Neurol Open ; 9: 2329048X221095695, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35497371

RESUMEN

Metabotropic Glutamate Receptor 1 (mGluR1) encephalitis is a rare encephalitis characterized by ataxia, neuropsychiatric symptoms, dysarthria and cognitive impairment. This disease process has been described in several adult patients and has been associated with paraneoplastic syndrome in Hodgkin's lymphoma and other cancers as well as parainfectious and underlying autoimmune etiologies. However, only two cases of anti-mGluR1 encephalitis in children have been reported in the literature. The underlying etiology of one case was not provided but post-infectious disease has been reported. Here, we report the first case of anti-mGluR1 encephalitis in a child with a presumed "idiopathic" basis.

2.
Child Neurol Open ; 8: 2329048X211041471, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34805447

RESUMEN

Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the development of myogenic tumors. While there is adequate literature describing both DMD and rhabdomyosarcoma (RMS) separately, there has yet to be a comprehensive literature review investigating the possibility that patients with DMD may be at a higher risk of developing RMS and other myogenic tumors. We present the case of a pediatric patient with DMD who developed alveolar RMS and review the literature for susceptibility to development of myogenic tumors in cases of DMD gene mutation.

3.
J Clin Endocrinol Metab ; 105(2)2020 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-31613321

RESUMEN

CONTEXT: Treatment-induced neuropathy of diabetes (TIND) is a rarely reported but important consideration in patients presenting with an acute onset of neuropathic symptoms following rapid correction of hyperglycemia in diabetes. Although it has been reported in children, the preponderance of literature focuses on adults with TIND. CASE DESCRIPTION: We report an 18-year-old male with this condition and his clinical course. We then discuss the proposed pathophysiology of TIND and review the literature. We also provide a standard workup for the diagnosis of TIND. CONCLUSION: In both pediatric and adult populations, TIND should be considered in diabetic patients who develop neuropathy acutely following rapid correction of hyperglycemia. Because the pathophysiology of TIND remains poorly understood, there is insufficient information regarding how to target susceptible individuals and prevent the development of TIND.


Asunto(s)
Diabetes Mellitus Tipo 1/tratamiento farmacológico , Cetoacidosis Diabética/tratamiento farmacológico , Neuropatías Diabéticas/inducido químicamente , Hipoglucemiantes/efectos adversos , Insulinas/efectos adversos , Adolescente , Diabetes Mellitus Tipo 1/complicaciones , Cetoacidosis Diabética/etiología , Humanos , Masculino
4.
Neuropsychopharmacology ; 42(10): 1962-1971, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28425496

RESUMEN

3,4-Methylenedioxymethamphetamine (MDMA) increases sociality in humans and animals. Release of serotonin (5-HT) is thought to have an important role in the increase in social behaviors, but the mechanisms underlying these effects are poorly understood. Despite the advantages of nonhuman primate models, no studies have examined the mechanisms of the social effects of MDMA in nonhuman primates. The behavior and vocalizations of four group-housed squirrel monkeys were examined following administration of MDMA, its enantiomers, and methamphetamine. 5-HT receptor antagonists and agonists were given as drug pretreatments. Data were analyzed using linear mixed-effects models. MDMA and its enantiomers increased affiliative social behaviors and vocalizations, whereas methamphetamine had only modest effects on affiliative behaviors. Pretreatment with a 5-HT2A receptor antagonist and a 5-HT2C receptor agonist attenuated the MDMA-induced increase in social behaviors, while a 5-HT1A receptor antagonist did not alter affiliative vocalizations and increased MDMA-induced social contact. Nonhuman primates show MDMA-specific increases in affiliative social behaviors following MDMA administration, in concordance with human and rodent studies. MDMA-induced increases in social behaviors are 5-HT2A, but not 5-HT1A, receptor dependent. Understanding the neurochemical mechanisms mediating the prosocial effects of MDMA could help in the development of novel therapeutics with the unique social effects of MDMA but fewer of its limitations.


Asunto(s)
N-Metil-3,4-metilenodioxianfetamina/farmacología , Psicotrópicos/farmacología , Receptor de Serotonina 5-HT2A/metabolismo , Conducta Social , Animales , Relación Dosis-Respuesta a Droga , Modelos Lineales , Masculino , Metanfetamina/farmacología , Receptor de Serotonina 5-HT1A/metabolismo , Saimiri , Serotoninérgicos/farmacología , Vocalización Animal/efectos de los fármacos , Vocalización Animal/fisiología
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