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BACKGROUND: Arterial spin labeling, a magnetic resonance imaging modality that can evaluate cerebral perfusion without using a contrast material or ionizing radiation, is becoming increasingly accessible. However, only a few reports have used this method to assess the perfusion abnormalities observed in acute encephalopathy with biphasic seizures and late reduced diffusion. PATIENT DESCRIPTION: A 10-month-old Japanese girl presented with febrile status epilepticus (early seizures). Her convulsions ceased after the administration of intravenous phenobarbital, although her impaired consciousness was protracted. Five days later, diffusion-weighted imaging revealed slightly high signal intensity lesions in the bilateral posterior frontal areas. Arterial spin labeling revealed bilateral frontal-dominant hypoperfusion and posterior frontal hyperperfusion. On day 6, she had three convulsions (late seizures) and was diagnosed with acute encephalopathy with biphasic seizures and late reduced diffusion. She received treatment accordingly and recovered eventually. DISCUSSION: Based on previous reports, hypoperfusion within 1-2 days of early seizures and hyperperfusion accompanied by bright tree appearance on diffusion-weighted imaging within 1-2 days of late seizures are typical in acute encephalopathy with biphasic seizures and late reduced diffusion. In our patient, the first magnetic resonance imaging scan was performed one day prior to the onset of late seizures. We observed posterior frontal hyperperfusion accompanied by high signals on diffusion-weighted imaging, which leads us to speculate that this could be a predictive marker of late seizures.
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Encefalopatias/diagnóstico , Encefalopatias/fisiopatologia , Lobo Frontal/diagnóstico por imagem , Convulsões Febris/fisiopatologia , Estado Epiléptico/fisiopatologia , Encefalopatias/patologia , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Lactente , Angiografia por Ressonância Magnética , Convulsões Febris/tratamento farmacológico , Marcadores de Spin , Estado Epiléptico/tratamento farmacológicoRESUMO
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth. Brain computed tomography showed diffuse, but mild, low-density cerebral white matter and a thin subdural hematoma in the posterior fossa. He did not have thrombocytopenia or coagulopathy. His respiratory status improved with conservative treatment, but his convulsions were persistent even after prescription of several antiepileptic drugs. His serum and cerebrospinal fluid showed decreased vitamin B6 vitamers and increased upstream metabolites of α-aminoadipic semialdehyde dehydrogenase, strongly suggesting a diagnosis of PDE; the epileptic spasms ceased after administration of intravenous pyridoxal phosphate hydrate. Gene analysis revealed novel compound heterozygous mutations in ALDH7A1 that included NM_001182.4:[c.1196G > T] and [c.1200 + 1G > A]. Atypical birth asphyxia with persistent neonatal seizure should prompt vitamin B6/metabolite screening.
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BACKGROUND: Rhinovirus is a common respiratory pathogen for children throughout the year; nevertheless, its central nervous system involvement is extremely rare, and only two cases have been reported to date: meningitis and sepsis-like illness. PATIENT: A previously healthy 2-year-old Japanese boy developed fever, followed by seizures and lethargy. His cerebrospinal fluid cell count and protein level were slightly increased; brain magnetic resonance imaging showed abnormal intensities in the bilateral cerebellar dentate nuclei, which were prominent in diffusion-weighted images. After his consciousness disturbance improved, cerebellar dysfunction became apparent. He was treated symptomatically, without steroids or any other immunosuppressants. He almost recovered within a few months; however, cerebellar atrophy became evident on brain magnetic resonance imaging. Using acute specimens, human rhinovirus A was detected in his throat swab and cerebrospinal fluid. DISCUSSION: Acute cerebellitis, in which cerebellar inflammation is predominant, is occasionally accompanied by cerebral symptoms, such as consciousness disturbance and seizures. As a causative pathogen, rotavirus is the most common; however, rhinovirus-associated acute encephalitis/encephalopathy and concurrent cerebellitis have not been reported before. Further research, using recent molecular techniques to detect various central nervous system pathogens, including rhinovirus, is needed to delineate the underlying pathophysiology.
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Enterovirus/patogenicidade , Encefalite Infecciosa/etiologia , Encefalite Infecciosa/fisiopatologia , Encefalopatias/complicações , Sistema Nervoso Central/virologia , Doenças Cerebelares/patologia , Cerebelo/patologia , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Encefalite/patologia , Febre/complicações , Humanos , Japão , Masculino , Rhinovirus/patogenicidade , Rotavirus/patogenicidade , Infecções por Rotavirus/complicações , Convulsões/complicaçõesRESUMO
BACKGROUND: We administered once-weekly dipeptidyl peptidase-4 (DPP-4) inhibitor (W) (used omarigliptin as W in this study) to patients with type 2 diabetes taking once-daily DPP-4 inhibitor (D), and investigated efficacy, safety and patient satisfaction before and after switching to W. METHODS: W was administered to 182 patients with type 2 diabetes taking D (used sitagliptin as D in this study), who had been visiting our hospital on an outpatient basis; 164 (90.6%) of these patients requested to switch medications. Of these 164 patients, this study investigated 153 who requested to continue taking W. Hemoglobin A1c (HbA1c) levels, body weight, blood pressure and a questionnaire survey (Diabetes Treatment Satisfaction Questionnaire (DTSQ)) were evaluated in these patients. RESULTS: Patient characteristics were as follows: age, 63.9 ± 10.3; male/female ratio, 93:60; duration of diabetes, 14.9 ± 7.7 years; and body mass index (BMI), 25.5 ± 4.2 kg/m2. After switching to W, HbA1c levels changed from 7.41 ± 0.7% to 7.36 ± 0.9%, which was not statistically significant. Changes in body weight, BMI, and systolic and diastolic blood pressure were also not significant. On the DTSQ, satisfaction of Q1 significantly increased (P < 0.01). The score for lifestyle assessment did not significantly change, but compliance significantly improved (P < 0.001). CONCLUSION: This study revealed that 90% of patients taking D elected to switch to W. Moreover, patient satisfaction and compliance improved after switching to W. Increased satisfaction appeared to be influenced by improved blood glucose control, but was not associated with compliance. Switching from D to W did not affect HbA1c levels but improved patient adherence.
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BACKGROUND: Mumps is a common childhood viral disease characterized by fever and swelling of the parotid gland. The prognosis is generally good, although some complications, such as encephalitis (0.1%), exist. Acute encephalopathy with biphasic seizures and late reduced diffusion is the most common type of acute encephalopathy. However, this type of encephalopathy has not been reported in association with mumps infection. PATIENT: A previously healthy 3-year-old Japanese boy had a brief convulsion after fever for 3days, and then had conscious disturbance and parotitis. After several days, he had a second brief convulsion and was admitted. Increased serum amylase levels and presence of anti-mumps immunoglobulin M antibody confirmed mumps parotitis. The patient had another brief seizure later the day of admission. He did not have status or cluster seizures, although the biphasic nature of his seizures, conscious disturbance between the seizures, no pleocytosis in cerebrospinal fluid, and brain magnetic resonance images were consistent with acute encephalopathy with biphasic seizures and late reduced diffusion. DISCUSSION: In Japan, the mumps vaccine is not administered as a part of routine immunizations. It thus has low coverage (30-40%), and as a result, mumps infections are still common. However, this is the first case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion. This case may be representative of only a minority of patients with mumps-associated central nervous system involvement. Nevertheless, this diagnostic possibility may be considered. In order to prevent mumps-related complications, routine mumps vaccination might be warranted.
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Encefalopatias/complicações , Caxumba/complicações , Convulsões/complicações , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/diagnóstico por imagem , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Masculino , Caxumba/diagnóstico por imagem , Convulsões/diagnóstico por imagemRESUMO
BACKGROUND: Mucolipidosis IV (MLIV; OMIM #252650) is an autosomal recessive lysosomal storage disorder, frequently observed in the Ashkenazi Jewish population. MLIV typically results in intellectual disability, corneal opacities, and delayed motor milestones during infancy, with a relatively static course. To date, reports of MLIV in other ethnic groups have been sparse. PATIENT: The present study is a case report of a 9-year-old Japanese boy, diagnosed via whole-exome sequencing, with compound heterozygous mutations of MCOLN1 (OMIM(*)605248): c.410T>C (p.Leu137Pro) and c.802_803delAG (p.Ser268Trpfs*17). Although his clinical course was mild (due to a lack of corneal clouding), other relevant features were present. These included strabismus, white matter signal abnormalities, and a hypoplastic corpus callosum at 2years of age. After a molecular diagnosis, a markedly elevated serum gastrin level (which is also common in MLIV) was confirmed. DISCUSSION: The present results suggest that MLIV could be added as a differential diagnosis for white matter disorders, regardless of ethnicity. Beyond neurological or ophthalmologic findings, serum gastrin could be a useful diagnostic marker for MLIV.
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Imageamento por Ressonância Magnética , Mucolipidoses/diagnóstico por imagem , Mucolipidoses/genética , Mutação , Canais de Potencial de Receptor Transitório/genética , Criança , Pré-Escolar , Diagnóstico Diferencial , Seguimentos , Técnicas de Genotipagem , Humanos , Japão , Masculino , Índice de Gravidade de DoençaRESUMO
INTRODUCTION: The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's reduced protein intake. Only one case of protein-losing enteropathy during the ketogenic diet has been reported. PATIENT DESCRIPTION: A previously healthy 9-year-old girl experienced fever for 5 days then suddenly developed convulsive seizures that subsequently evolved to severe refractory status epilepticus. After multiple antiepileptic drugs failed to improve the patient's condition, we introduced the ketogenic diet. Although her seizures diminished, her course was complicated by hypoproteinemia. An abdominal dynamic scintigraphy and colonoscopy findings indicated protein-losing enteropathy with nonspecific mucosal inflammation. Her nutritional status deteriorated; thus, we discontinued the ketogenic diet. Her nutritional status gradually improved, whereas her seizures increased. DISCUSSION: Hypoproteinemia during the ketogenic diet is common, but the underlying etiologies are not well understood. Abdominal dynamic scintigraphy could be valuable for clarifying the etiology of hypoproteinemia during the ketogenic diet.
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Dieta Cetogênica/efeitos adversos , Enteropatias Perdedoras de Proteínas/etiologia , Estado Epiléptico/dietoterapia , Criança , Feminino , HumanosRESUMO
BACKGROUND: Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 varies, and for a milder form of PMD, there have been some reports of near-normal findings in T1-weighted images but abnormal findings in T2-weighted images. PATIENT: We report the case of a 5-year-old boy diagnosed with a milder form of PMD caused by a novel PLP1 mutation in exon 3: c.300delC (p.I100IfsX13). He had delayed development from several months of age and was able to walk with support at 19 months in spite of the spasticity in his lower extremities. Hypomyelination was noted at 12 months by brain MRI. Motor nerve conduction studies showed decreased velocities with reduced amplitudes. Follow-up MRI at 1-year intervals from 18 months until 55 months of age showed gradual myelination progress. DISCUSSION: The single nucleotide deletion identified in this patient can cause a frameshift and premature termination of PLP1. Via the nonsense-mediated mRNA decay mechanism of this mutation will result in loss-of-function, leading to a milder form of PMD. The present case is compatible with previously reported cases of milder form of PMD. We incidentally identified progressive myelination in this patient by T1-weighted images obtained by serial MRI. This finding adds to our understanding of the pathological stages of a milder form of PMD.
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Mutação da Fase de Leitura , Proteína Proteolipídica de Mielina/genética , Doença de Pelizaeus-Merzbacher/genética , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Encéfalo/fisiopatologia , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Potenciais Evocados Auditivos do Tronco Encefálico , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Doença de Pelizaeus-Merzbacher/patologia , Doença de Pelizaeus-Merzbacher/fisiopatologiaRESUMO
We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis.
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Transtornos Cromossômicos/genética , Síndrome de Dandy-Walker/genética , Holoprosencefalia/genética , Encéfalo/patologia , Deleção Cromossômica , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 13/genética , Proteínas de Ligação a DNA , Síndrome de Dandy-Walker/complicações , Síndrome de Dandy-Walker/patologia , Feminino , Deleção de Genes , Holoprosencefalia/complicações , Holoprosencefalia/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Proteínas Nucleares/genética , Fatores de Transcrição/genéticaRESUMO
OBJECTIVE: The present study aimed to evaluate the efficacy of surgical treatment for intractable aspiration in patients with severe motor and intellectual disabilities (SMID) and neuromuscular diseases (NMD). METHODS: A retrospective analysis was performed of 20 patients who underwent laryngotracheal separation (LTS) or the tracheal flap method (TFM) between 2003 and 2012 at Gunma Children's Medical Center. RESULTS: All patients were bedridden and fed either through a naso-gastric or naso-esophageal tube or via a gastric fistula. Of the 20 participants, 60% underwent surgical treatment before 3 years of age. The incidence of aspiration pneumonia decreased after surgery, and 8 of 10 patients, who were previously hospitalized for a long duration, were discharged. The most frequent complications observed were granulation around the tracheostomy stoma and endotracheal granuloma. Two patients presented with a tracheal fistula. CONCLUSION: LTS and TFM can be used as treatment modalities for patients with intractable aspiration along with SMID and NMD. In patients with intractable aspiration, after considering their underlying conditions, adaptation and type of operative procedures should be determined.
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Encefalopatias , Traqueia/cirurgia , Adolescente , Aspirações Psicológicas , Criança , Pré-Escolar , Humanos , Lactente , Traqueostomia , Adulto JovemRESUMO
BACKGROUND: There have been numerous reports regarding serum or cerebrospinal fluid (CSF) biomarkers in various disorders; however, the validities of such biomarkers for more precise diagnoses and prognosis estimates remain to be determined, especially in pediatric patients with neurological disorders. METHODS: Serum/CSF S100B, neuron-specific enolase, and total tau (tTau) were measured in various acute pediatric neurological disorders, and their usefulness for diagnostic and prognostic predictions was validated using receiver operating characteristic curves and area under the curve (AUC) analysis. RESULTS: A total of 336 serum and 200 CSF specimens from 313 patients were examined, and we identified statistically significant differences that were relevant from diagnostic and prognostic viewpoints. CSF and serum tTau levels could be good predictors for diagnosis (CSF tTau; AUC=0.76) and prognosis (serum tTau; AUC=0.78). CONCLUSIONS: Both CSF and serum tTau levels could be useful for precise diagnostic and prognostic estimations in acute pediatric neurological disorders. Further studies are needed to clarify the clinical significance of such biomarkers.
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Doenças do Sistema Nervoso/diagnóstico , Fosfopiruvato Hidratase/metabolismo , Subunidade beta da Proteína Ligante de Cálcio S100/metabolismo , Proteínas tau/metabolismo , Doença Aguda , Área Sob a Curva , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Doenças do Sistema Nervoso/sangue , Doenças do Sistema Nervoso/líquido cefalorraquidiano , Fosfopiruvato Hidratase/sangue , Fosfopiruvato Hidratase/líquido cefalorraquidiano , Prognóstico , Curva ROC , Subunidade beta da Proteína Ligante de Cálcio S100/sangue , Subunidade beta da Proteína Ligante de Cálcio S100/líquido cefalorraquidiano , Sensibilidade e Especificidade , Proteínas tau/sangue , Proteínas tau/líquido cefalorraquidianoRESUMO
Here, we studied the effects of cytochrome P450 (CYP)3A deficiency on the mRNA expression of genes encoding regulators of hepatic cholesterol levels using Cyp3a-knockout (Cyp3a(-/-)) mice. The mRNA expression levels of genes encoding enzymes involved in cholesterol biosynthesis in the livers of Cyp3a(-/-) mice were higher than those of wild-type (WT) mice. Nuclear levels of sterol regulatory element-binding protein-2 (SREBP-2), which enhances cholesterol biosynthesis, were also higher in the livers of Cyp3a(-/-) mice. Binding of SREBP-2 to the Hmgcs1 gene promoter was more abundant in the livers of Cyp3a(-/-) mice. These results suggest that deficiency of CYP3A enzymes enhances transcription of genes encoding enzymes involved in cholesterol biosynthesis via activation of SREBP-2. On the other hand, hepatic cholesterol levels in Cyp3a(-/-) mice were 20% lower than those in WT mice. The mRNA expression levels of genes encoding enzymes involved in bile acid synthesis, plasma levels of 7α-hydroxy-4-cholesten-3-one and hepatic levels of total bile acid were significantly higher in Cyp3a(-/-) mice than in WT mice. These findings suggest that reduction of hepatic total cholesterol in Cyp3a(-/-) mice would be the consequence of enhanced bile acid synthesis. Therefore, CYP3A enzymes appear to play roles in the synthesis of cholesterol and bile acid in vivo.
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Ácidos e Sais Biliares/biossíntese , Colesterol/biossíntese , Sistema Enzimático do Citocromo P-450/deficiência , Fígado/metabolismo , Animais , Citocromo P-450 CYP3A , Sistema Enzimático do Citocromo P-450/genética , Sistema Enzimático do Citocromo P-450/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , RNA Mensageiro/genética , RNA Mensageiro/metabolismoRESUMO
Feeding dysfunction (FD) has recently been considered to comprise a prevalent set of symptoms in eosinophilic gastrointestinal disorders (EGIDs) in young children. We report the case of an 8-month-old girl with an EGID who visited our hospital due to vomiting, poor weight gain and feeding difficulties; her condition was discovered during the examination of the symptoms including FD. Tracheal aspiration and reduced esophageal clearance showed up in a barium swallow test and upper gastrointestinal contrast radiography, respectively. Delayed clearance from the stomach was also detected on gastrointestinal scintigraphy. Gastrointestinal endoscopy and biopsies revealed esophagitis with some eosinophils and duodenitis with eosinophilic inflammation. She was not a likely candidate for eosinophilic esophagitis. On administration of an elemental diet, the patient gained weight. Esophageal and stomach clearance subsequently improved, although the vomiting and FD persisted to some extent. We conclude that it is important to consider other EGIDs as well as eosinophilic esophagitis in the differential diagnosis of FD.
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Eosinofilia/diagnóstico , Gastroenteropatias/diagnóstico , Diagnóstico Diferencial , Eosinofilia/dietoterapia , Comportamento Alimentar , Feminino , Alimentos Formulados , Gastroenteropatias/dietoterapia , Humanos , LactenteRESUMO
BACKGROUND: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized clinically by biphasic seizures and late magnetic resonance imaging abnormalities, such as reduced subcortical diffusion from day 3 onwards, often accompanied with some neurological sequelae. In the early stages of the disease, AESD closely resembles its far more prevalent and relatively benign counterpart, febrile seizure (FS). METHODS: We measured and compared the serum or cerebrospinal fluid (CSF) levels of S100B, neuron-specific enolase (NSE), and total tau protein in 43 patients with FS and 18 patients with AESD, at any point during the disease. To assess early diagnostic validity, we compared these biomarkers in 43 FS and eight AESD patients, with whom the day 0-2 samples were available. We used the receiver-operator characteristic curve to evaluate the diagnostic values of these markers. RESULTS: The levels of all biomarkers were significantly higher in AESD than FS patients. When only day 0-2 samples from AESD patients were used, the levels of all the measured biomarkers, except serum NSE, were still significantly higher in patients with AESD than in FS, suggesting that AESD could damage astrocytes, neurons, and axons, even in the early stages of the disease. According to the receiver-operator characteristic curve analyses, CSF S100B (cut-off value, 100 pg/mL) and CSF total tau protein (cut-off value, 100 pg/mL) were better predictors of AESD than other biomarkers. CONCLUSION: The combination of CSF S100B and CSF total tau protein resulted in a positive predictive value of AESD 83.3%, which could be helpful for early diagnosis, facilitating early therapeutic interventions.
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Encefalopatias/diagnóstico , Fatores de Crescimento Neural/análise , Fosfopiruvato Hidratase/análise , Proteínas S100/análise , Convulsões/diagnóstico , Proteínas tau/análise , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Pré-Escolar , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Fatores de Crescimento Neural/sangue , Fatores de Crescimento Neural/líquido cefalorraquidiano , Fosfopiruvato Hidratase/sangue , Fosfopiruvato Hidratase/líquido cefalorraquidiano , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Subunidade beta da Proteína Ligante de Cálcio S100 , Proteínas S100/sangue , Proteínas S100/líquido cefalorraquidiano , Convulsões Febris/diagnóstico , Proteínas tau/sangue , Proteínas tau/líquido cefalorraquidianoRESUMO
OBJECTIVE: To clarify the immune pathophysiology of West syndrome (WS). STUDY DESIGN: We measured peripheral blood lymphocyte subset and serum cytokine profiles in 76 WS patients and 26 age-matched controls. Adrenocorticotropic hormone (ACTH) is one of the most effective therapy for WS and presumably immune-modulating; therefore, we compared the measured parameters between before ACTH (pre-ACTH) WS patients and controls, between cryptogenic and symptomatic WS patients before ACTH (pre-ACTH), and between before (pre-ACTH) and after (post-ACTH) ACTH WS patients. The post-ACTH group included those who received the last ACTH dose within 1 month of sampling. RESULTS: CD3+ CD25+, CD19+, and CD19+ CD95+ cells were found to be significantly lower in the pre-ACTH group than in the controls. Interleukin (IL)-1 receptor antagonist (RA), 5, 6, and 15; eotaxin; basic fibroblast growth factor (bFGF); and interferon gamma-inducible protein (IP)-10 levels were higher in pre-ACTH group than in the controls. No significant differences were found between the pre-ACTH cryptogenic and symptomatic groups. CD4+ cells, CD3+ cells, CD4+/8+ ratio, IL-1 beta, IL-12, and macrophage inflammatory protein (MIP)-1 beta were significantly higher in pre-ACTH group than in the post-ACTH group. CONCLUSIONS: Our study revealed immunological alterations in WS patients, and these responses were modified by ACTH therapy. Further study is needed to elucidate whether or how the immune system alteration is involved in the pathophysiology of WS.
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Citocinas/sangue , Subpopulações de Linfócitos/patologia , Espasmos Infantis , Hormônio Adrenocorticotrópico/metabolismo , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Leucócitos/patologia , Subpopulações de Linfócitos/classificação , Masculino , Estudos Retrospectivos , Espasmos Infantis/sangue , Espasmos Infantis/imunologia , Espasmos Infantis/patologiaRESUMO
The purpose of this study was to evaluate the incidence and features of increased FDG uptake in uterine leiomyomas in apparently healthy women. The incidence of increased FDG uptake is 0.1% in all 2193 women, 0.5% in women with uterine leiomyoma, and 3.4% in women with degenerated leiomyoma. There was no relationship between the intensity of FDG uptake and the size/site of leiomyoma or the tendency of degeneration in leiomyoma. The women with the increased uptake were not limited at premenopause.
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Fluordesoxiglucose F18/farmacocinética , Leiomioma/diagnóstico por imagem , Leiomioma/metabolismo , Tomografia por Emissão de Pósitrons/métodos , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Taxa de Depuração Metabólica , Pessoa de Meia-Idade , Compostos Radiofarmacêuticos/farmacocinética , Valores de ReferênciaRESUMO
Linseed flax (Linum usitatissimum L.) is an industrially important oil crop, which includes large amounts of alpha-linolenic acid (18:3) and lignan in its seed oil. We report here the metabolic engineering of flax plants to increase carotenoid amount in seeds. Agrobacterium-mediated transformation of flax was performed to express the phytoene synthase gene (crtB) derived from the soil bacterium Pantoea ananatis (formerly called Erwinia uredovora 20D3) under the control of the cauliflower mosaic virus (CaMV) 35S constitutive promoter or the Arabidopsis thaliana fatty acid elongase 1 gene (FAE1) seed-specific promoter. As a result, eight transgenic flax plants were generated. They formed orange seeds (embryos), in which phytoene, alpha-carotene, and beta-carotene were newly accumulated in addition to increased amounts of lutein, while untransformed flax plants formed light-yellow seeds, in which only lutein was detected. Interestingly, despite the control of the CaMV 35S promoter, the expression of crtB was not observed in the leaves but in the seeds in the transgenic flax plants. Total carotenoid amounts in these seeds were 65.4-156.3 microg/g fresh weight, which corresponded to 7.8- to 18.6-fold increase, compared with those of untransformed controls. These results suggest that the flux of phytoene synthesis from geranylgeranyl diphosphate was first promoted by the expressed crtB gene product (CrtB), and then phytoene was consecutively decomposed to the downstream metabolites alpha-carotene, beta-carotene, and lutein, as catalyzed by endogenous carotenoid biosynthetic enzymes in seeds. The transgenic flaxseeds enriched with the carotenoids could be valuable as nutritional sources for human health.
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Carotenoides/metabolismo , Linho/genética , Linho/metabolismo , Melhoramento Genético/métodos , Pantoea/enzimologia , Pantoea/genética , Engenharia de Proteínas/métodosRESUMO
It is known that rotavirus gastroenteritis can accompany some neurological manifestations, including encephalitis/encephalopathy or seizures. However, the detailed pathogenesis involved has not been fully understood. To date, acute cerebellitis associated rotavirus gastroenteritis has not been previously reported, except for one case. Herein, we describe two cases of acute encephalitis/encephalopathy and concurrent cerebellitis, associated rotavirus gastroenteritis. Following vomiting and diarrhea, case 1 experienced convulsions and consciousness disturbance and case 2, transient loss of consciousness with eye deviation. After these symptoms subsided, cerebellar signs became evident and a brain MRI showed cerebellar involvement in both cases. Both cases showed speech disturbances, such as mutism, slow speech and dysarthria. In this report, we will discuss the possible pathogenesis of rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis.