Introduction:Arterial ischemic stroke in newborns is an important cause of neonatal morbidity and mortality. Its pathophysiology and associated risk factors are not yet clearly understood and defined.Objective:The aim of this retrospective study was to investigate possible risk factors in diagnosed cases of PAIS (perinatal arterial ischemic stroke).Materials and methods:Case–control study. Clinical data of patients with PAIS diagnosis were analyzed. Two healthy controls were selected for each PAIS case, matched for gestational age. Risk factors were explored using univariable and multivariable analysis.Outcome:40 patients were included in the study, 24 males and 16 females; 52.5% of cases were diagnosed within the first month of birth, and 47.5% were retrospectively diagnosed. The results showed a male predominance (66.7%). The distribution of cerebral ischemic injury was predominantly medial cerebral artery (87.5%) and occurred more commonly in the left cerebral hemisphere (62.5%). Significant risk factors in the univariate analysis (P < 0.05) were primiparity, stillbirth, neonatal sepsis, asphyxia, twin pregnancy, placenta abruption, emergency cesarean section, Apgar score ≤7 after 5 min, breech presentation, and hyperbilirubinemia. In the multivariate analysis, primiparity (OR 11.74; CI 3.28–42.02), emergency cesarean section (OR 13.79; CI 3.51–54.13), birth asphyxia (OR 40.55; CI 3.08–532.94) and Apgar score ≤7 after 5 min (OR 13.75; CI 1.03–364.03) were significantly associated factors with PAIS. Only five (16.6%) patients had an abnormal thrombophilia study.Conclusion:Risk factors of primiparity, emergency cesarean section, birth asphyxia, and Apgar score ≤7 after 5 min were significantly associated with perinatal stroke. More studies with a larger number of patients and with prolonged follow up are required to establish more clearly the associated risk factors involved in this pathology.
<b><i>Introduction:</i></b> Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the <i>GALNS</i> gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that the degree of evolutionary and chemical divergence of missense variants in GalN6S when compared to ancestral amino acids is associated with the severity of the syndrome, suggesting a genotype-phenotype correlation. There is little information on Latin American patients with MPS IV-A that replicate these findings. This study aimed to characterize the phenotype and genotype from patients with MPS IV-A, who are under Enzyme Replacement Therapy at the Children’s Neuropsychiatry Service of the Hospital Clínico San Borja Arriarán, Santiago, Chile, and to determine if there is any association between genotype and phenotype with those findings. <b><i>Methods:</i></b> Information was collected from medical charts, all patients went through a GalN6S enzymatic activity measurement in leukocytes from peripheral blood, and the <i>GALNS</i> gene was sequenced for all cases. <b><i>Results:</i></b> 12 patients with MPS IV-A were recruited, all patients presented multisystem involvement, mostly skeletal, and 75% of cases underwent surgical interventions, and cervical arthrodesis was the most frequent procedure. In regards of the genotype, the two most frequent variants were c.319+2T>C (<i>n</i> = 10, 41.66%) and p.(Arg386Cys) (<i>n</i> = 8, 33.33%), the first one was previously described in 2018 in a patient from Chile [Bochernitsan et al., 2018]. <b><i>Conclusion:</i></b> This is the first time that a genotype-phenotype correlation has been studied by analyzing the variants effect on the molecular structure of human GalN6S and the evolutionary conservation degree of affected residues in a cohort of patients in Chile. Albeit our work could not find statistically significant associations, we may infer that the evolutionary conservations of affected amino acids and the effect of variants on enzyme structure may play a main role. Further analyzes should consider a meta-analysis of published cases with genotype data and larger samples and include other variables that could provide more information. Finally, our data strongly suggest that variant c.319+2T>C could have a founder effect in Chilean patients with MPS IV-A.
Stroke is an important cause of morbidity and mortality in children. Clinical presentation is diverse, and multiple risk factors have been described. The aim of this retrospective study is to describe the clinical presentation, risk factors, and the Pediatric National Institute of Health Stroke Scale (PedNIHSS) in a series of pediatric Chilean patients with the diagnosis of arterial ischemic stroke (AIS). Children diagnosed with AIS aged between 29 d and 18 y were enrolled (1989 to 2016). Clinical characteristics and risk factors were described. PedNIHSS severity score was estimated for patients older than 4 mo of age. Sixty-two patients were included, 66% were male, and the mean age of presentation was 3.5 y. Seventy-nine percent presented motor deficit, 45% seizures, and 15% consciousness impairment. Eighty-two percent had a unilateral stroke and 73% had anterior circulation territory affected. The main risk factors were arteriopathy (63%) and infection (43%). The PedNIHSS mean was 7.6, ranging between 0 and 17. In the categories in which it was possible to apply χ2 test, only the acute systemic conditions category was statistically significant (P = 0.03), being higher in the group of patients younger than 3 y old. We confirmed male predominance in AIS and the most frequent presenting symptom was motor deficit. We found at least 1 risk factor in all patients with complete information. We confirmed arteriopathy as the most frequent risk factor, and acute systemic conditions were higher in patients younger than 3 y old with statistical significance (P = 0.03). The majority of patients presented mild to moderate severity in the PedNIHSS score.
El Trastorno de Sueño Inquieto (sigla en inglés RSD: Restless Sleep Disorder) es un cuadro recientemente descrito por un grupo de expertos en sueño que elaboró criterios diagnósticos y polisomnográficos después de realizar una acuciosa revisión de la bibliografía disponible donde se mencionaba un mal dormir o sueño inquieto como síntoma único o acompañante de otros trastornos. Este grupo definió el TSI como un cuadro caracterizado por la queja parental de movimientos gruesos frecuentes durante el sueño, de reposicionamiento y disrupción del sueño que causan deterioro significativo diurno. Los criterios diagnósticos incluyen presencia de síntomas durante 3 meses, al menos 3 veces por semana, y hallazgos polisomnográficos de al menos 5 movimientos/hora. Debe considerar cambios conductuales durante el día tales como somnolencia, irritabilidad e hiperactividad, y que estos no sean explicados por una condición médica, farmacológica o conductual secundaria. Su prevalencia está estimada en un 7,7 % de niños referidos por problemas de sueño. Los niños presentan usualmente niveles de ferritina bajo 50 ng/ml, un punto en común con el Síndrome de piernas inquietas. El tratamiento propuesto por expertos consiste en la suplementación de fierro, que ha demostrado beneficios en este grupo de pacientes. Para el diagnóstico debe descartarse cuadros secundarios de origen médico general u otros trastornos de sueño tales como Síndrome de piernas inquietas o Movimiento periódico de extremidades. El objetivo de esta revisión es revisar las recomendaciones actuales en esta entidad, describir las claves clínicas, fisiopatológicas y polisomnográficas, destacando la necesidad de dar a conocer este cuadro para ampliar los estudios en grupos etarios diferentes a los ya definidos y generar pautas de tratamiento.
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