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Brain Dev ; 42(7): 523-528, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32336482


BACKGROUND: Riboflavin may prevent migraine episodes; however, there is limited evidence of its effectiveness in pediatric populations. This study investigated the effectiveness of riboflavin and clinical predictors of response in children with migraines. METHODS: We retrospectively reviewed data from 68 Japanese children with migraines, of whom 52 also exhibited another type of headache. Patients received 10 or 40 mg/day of riboflavin. We evaluated the average migraine frequency per month as a baseline and after 3 months of riboflavin therapy to determine the effectiveness and clinical predictors of response. RESULTS: The frequency of migraine episodes was significantly lower at 3 months than at baseline (median, [interquartile range], 5.2 (3-7) vs. 4.0 (2-5); p < 0.01). Twenty-five patients (36.7%) showed 50% or greater reduction in episode frequency (responders), while 18 (26.5%) showed a 25%-50% reduction. We compared responders (n = 25) and non-responders (n = 43) and found no significant differences in sex, familial history, riboflavin dose, migraine type (i.e., presence or absence of aura), age at headache onset, or age at consultation. However, non-responders were more likely to have co-morbid non-migraine headaches (odds ratio, 4.11; 95% confidence interval [CI], 1.27-13.33; p = 0.02); this variable was also significant in a multivariate analysis (adjusted odds ratio, 3.8; 95% CI, 1.16-12.6; p = 0.03). Of the co-morbid headache types, only tension headaches were significant (odds ratio, 0.176; 95% CI, 0.04-0.73; p = 0.013). No adverse effects of riboflavin were identified. CONCLUSIONS: Low-dose riboflavin is safe and modestly effective for migraines in children. It may be especially beneficial for children without other co-morbid headache types.

Eur J Med Genet ; 63(5): 103872, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32028043


Microdeletions in the 9q22.3 chromosomal region can cause macrosomia with characteristic features, including prenatal-onset overgrowth, metopic craniosynostosis, hydrocephalus, developmental delay, and intellectual disability, in addition to manifestations of nevoid basal cell carcinoma syndrome (NBCCS). Haploinsufficiency of PTCH1 may be responsible for accelerated overgrowth, but the mechanism of macrosomia remains to be elucidated. We report a familial case with a 9q22.3 microdeletion, manifesting with prenatal-onset overgrowth in a mother and post-natal overgrowth in her daughter. Although both were clinically diagnosed with NBCCS, they had characteristic features of 9q22.3 microdeletion, especially the daughter. Microarray comparative genomic hybridization analysis revealed a 4.0 Mb deletion of chromosome 9q22.3 in both individuals. Among the 11 reported patients of overgrowth and/or macrosomia, a 550 Kb region encompassing PTCH1, C9orf3, FANCC, and 5 miRNAs is the most commonly deleted region. The let-7 family miRNAs, which are involved in diverse cellular processes including growth and tumor processes, were identified in the deleted regions in 10 of 11 patients. Characteristic features of 9q22.3 microdeletion might be associated with decreased expression of let-7.

Fetal Pediatr Pathol ; 37(3): 157-165, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29737915


INTRODUCTION: Multi-organ injury causes leakage of several intracellular enzymes into the circulation. We evaluated the correlation between the serum-leaked intracellular enzyme levels at the beginning of treatment and the outcome in perinatally stressed neonates. MATERIALS AND METHODS: We retrospectively studied neonates whose 1 minute Apgar score was < 7. We collected initial venous blood sample data, including aspartate transaminase (AST), alanine transaminase (ALT), lactate dehydrogenase (LDH), and creatine kinase (CK) levels, and correlated these with patient short-term outcomes. RESULTS: Of 60 neonates, nine patients were treated with therapeutic hypothermia, and 32 needed mechanical ventilation. The therapeutic hypothermia group showed significantly larger base deficit, and higher lactate, AST, ALT, LDH, and CK (all p < 0.01). The duration of mechanical ventilation significantly correlated with AST, ALT, LDH, and CK levels (all p < 0.01). CONCLUSION: Initial enzyme levels are useful for predicting the duration of mechanical ventilation in stressed neonates.

Asfixia Neonatal/embriología , Recién Nacido/metabolismo , Síndrome de Aspiración de Meconio/enzimología , Taquipnea/enzimología , Alanina Transaminasa/sangre , Aspartato Aminotransferasas/sangre , Asfixia Neonatal/sangre , Asfixia Neonatal/enzimología , Creatina Quinasa/sangre , Femenino , Humanos , L-Lactato Deshidrogenasa/sangre , Ácido Láctico/sangre , Síndrome de Aspiración de Meconio/sangre , Embarazo , Estudios Retrospectivos , Taquipnea/sangre
Clin Exp Nephrol ; 16(4): 656-7, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22752353


Acute focal bacterial nephritis (AFBN) is a localized, interstitial bacterial infection of the renal parenchyma. In this study, we measured the serum levels of several cytokines in patients with AFBN. A total of 11 children were enrolled in the study and classified into two groups of patients: an AFBN group and a control group. There was no significant difference in the serum levels of interleukin (IL)-1ß, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12, IL-17, granulocyte-colony stimulating factor, or tumor necrosis factor-α among the patients in the two groups. However, the serum levels of interferon-γ among the patients in the AFBN group were significantly higher than those among the patients in the control group. The current results suggest that the bacterial kidney infection in the AFBN group is localized and that interferon-γ may be produced locally in response to the infection.

Interferón gamma/sangre , Nefritis/sangre , Nefritis/microbiología , Enfermedad Aguda , Estudios de Casos y Controles , Niño , Preescolar , Enterococcus faecalis/aislamiento & purificación , Escherichia coli/aislamiento & purificación , Femenino , Factor Estimulante de Colonias de Granulocitos y Macrófagos/sangre , Humanos , Lactante , Interleucinas/sangre , Masculino , Factor de Necrosis Tumoral alfa/sangre
Indian J Pediatr ; 78(3): 348-50, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20978870


The authors report a Japanese boy with severe pandemic influenza A(H1N1) 2009-associated pneumonia and deteriorating oxygenation. He dramatically recovered after the use of Airway Pressure Release Ventilation (APRV) mode. There was no improvement by using any conventional ventilation, however, APRV immediately led to an improvement of his clinical symptoms and laboratory findings.

Lesión Pulmonar Aguda/terapia , Presión de las Vías Aéreas Positiva Contínua , Citocinas/análisis , Subtipo H1N1 del Virus de la Influenza A , Gripe Humana/terapia , Lesión Pulmonar Aguda/virología , Niño , Citocinas/sangre , Humanos , Gripe Humana/sangre , Gripe Humana/diagnóstico , Masculino