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Mol Genet Metab Rep ; 24: 100612, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32547926


Hearing impairment is a neurological symptom of hypophosphatasia (HPP), which leads to a reduced quality of life. However, the pathomechanism of hearing impairment and the effects of asfotase alfa enzyme replacement therapy on hearing function in HPP have not been clarified. Here we report a case and present clinical data of a patient with perinatal HPP whose hearing impairment improved after asfotase alfa treatment.

J Child Neurol ; 35(10): 667-673, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32476572


BACKGROUND: Migraines are a broad spectrum of disorders classified by the type of aura with some requiring attentive treatment. Vasoconstrictors, including triptans, should be avoided in the acute phase of migraines with brainstem aura, in hemiplegic migraine, and in retinal migraine. This study investigated the characteristics and burden of these migraines. METHODS: Medical charts of 278 Japanese pediatric patients with migraines were retrospectively reviewed. Migraine burden of migraines with brainstem aura, hemiplegic migraines, and retinal migraine was assessed using the Headache Impact Test-6™ (HIT-6) and the Pediatric Migraine Disability Assessment scale (PedMIDAS). RESULTS: Of 278 patients screened, 12 (4.3%) patients with migraines with brainstem aura (n = 5), hemiplegic migraines (n = 2), and retinal migraine (n = 5) were enrolled in the study. All patients had migraine with/without typical aura, whereas some patients had coexisting migraine with another type of headache (chronic tension-type headache in 3 patients, and 1 each with frequent episodic tension-type headache, headache owing to medication overuse, and chronic migraine). Migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients with coexisting headaches had higher HIT-6 or PedMIDAS scores, whereas migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients without coexisting headache did not show high HIT-6 or PedMIDAS scores. CONCLUSION: All migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients experienced migraine with or without typical aura, and some patients having other coexisting headaches also had high PedMIDAS and HIT-6 scores. PedMIDAS and HIT-6 should not be considered diagnostic indicators of migraines with brainstem aura, hemiplegic migraines, or retinal migraine. In clinical practice for headaches in children, careful history taking and proactive assessment of the aura are needed for accurate diagnosis of migraines with brainstem aura, hemiplegic migraines, and retinal migraine.

J Infect Chemother ; 20(7): 443-5, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24793175


BACKGROUND: There is currently no consensus treatment for children non-responsive to peginterferon (Peg-IFN) and ribavirin. CASE PRESENTATION: Here, we present a Japanese child with chronic hepatitis C with fibrosis, who did not respond to Peg-IFN α-2b but responded to Peg-IFN α-2a with ribavirin, accompanied with fluvastatin. To date, there has been no reported case of re-treatment in children. The early viral response occurred soon after starting treatment using Peg-IFN α-2a/ribavirin plus fluvastatin. CONCLUSION: Our result indicates that when treatment by Peg-IFN α-2b/ribavirin combination therapy is not efficient, combination therapy using Peg-IFN α-2a/ribavirin plus fluvastatin should be considered in children with advanced liver change.

Antivirales/uso terapéutico , Hepatitis C Crónica/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Polietilenglicoles/uso terapéutico , Ribavirina/uso terapéutico , Niño , Quimioterapia Combinada/métodos , Ácidos Grasos Monoinsaturados/uso terapéutico , Fluvastatina , Humanos , Indoles/uso terapéutico , Interferón alfa-2 , Masculino , Proteínas Recombinantes/uso terapéutico , Resultado del Tratamiento
Rheumatol Int ; 31(8): 1089-92, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20012054


Chronic arthritis may occur in association with antibody deficiency and chromosomal aberrations. This report presents the case of a 6-year-old girl with chromosome 22q11 deletion syndrome and chronic arthritis. The onset of arthritis occurred at 4 years of age. The chronic arthritis course has been the polyarticular type. Neither antinuclear antibody nor rheumatoid factor was detected. Serum IgA was extremely low. She was diagnosed with juvenile idiopathic polyarticular arthritis (JIA) complicated by IgA deficiency in the 22q11 deletion syndrome. There is an increased prevalence of chronic arthritis in association with 22q11 deletion syndrome with IgA deficiency, but the reasons for this association are unknown. This study evaluated the possible correlation between cytokines and the susceptibility to chronic arthritis in the 22q11 deletion syndrome with IgA deficiency. The expression of pro-inflammatory cytokines such as IL-8, IL-6, MIP-1ß, and MCP-1 suggests that T and B cells, macrophages and neutrophils modulate joint inflammation by an immune response. And the presence of IL-10 and IL-5 might suggest that the synovitis is associated with JIA and IgA deficiency.

Artritis Juvenil/inmunología , Deleción Cromosómica , Cromosomas Humanos Par 22 , Deficiencia de IgA/inmunología , Antiinflamatorios no Esteroideos/uso terapéutico , Antirreumáticos/uso terapéutico , Artritis Juvenil/tratamiento farmacológico , Artritis Juvenil/genética , Artritis Juvenil/patología , Niño , Quimioterapia Combinada , Femenino , Humanos , Ibuprofeno/uso terapéutico , Deficiencia de IgA/genética , Metotrexato/uso terapéutico , Sinovitis/genética , Sinovitis/inmunología , Sinovitis/patología
J Clin Neurosci ; 16(12): 1698-9, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19846311


We describe an 11-year-old female patient who presented with a 7-day history of diplopia and difficulty walking. On examination she had ataxia, areflexia and ophthalmoplegia, and a diagnosis of Miller Fisher syndrome (MFS) was made after the exclusion of other conditions. Monocyte chemotactic protein-1 (MCP-1) and interleukin (IL)-8 chemokine levels in the cerebrospinal fluid (CSF) were significantly increased in the acute phase. We believe MFS in this patient was due to both peripheral nervous system dysfunction, and central nervous system (CNS) involvement. The cause of MFS in this patient was suggested by the localized chemokine production in the CSF. The high expression of MCP-1 and IL-8 chemokines suggest that macrophages and T cells may stimulate inflammation of the CNS in MFS.

Quimiocina CCL2/sangre , Quimiocina CCL2/líquido cefalorraquídeo , Interleucina-8/sangre , Interleucina-8/líquido cefalorraquídeo , Síndrome de Miller Fisher/sangre , Síndrome de Miller Fisher/líquido cefalorraquídeo , Niño , Femenino , Humanos