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1.
Cureus ; 16(5): e60748, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38903324

RESUMO

Epileptic seizures can be worsened by infections; however, they sometimes disappear or decrease after an acute viral infection, although this is rare. We report the spontaneous remission of epileptic seizures following norovirus-induced viral gastroenteritis in a boy with DNM1 encephalopathy. He had clonic seizures daily from the age of two months and developed epileptic spasms at 14 months of age; he was admitted to the hospital at this time. A physical examination revealed hypotonia, strabismus, tongue protrusion with drooping, and widely spaced teeth. Although brain magnetic resonance imaging was unremarkable, electroencephalography revealed frequent occipital spikes. Three days after admission, the patient developed frequent diarrhea without a fever. A rapid immunochromatographic test of norovirus in a stool sample was positive. Immediately after the appearance of diarrhea, the epileptic seizures disappeared. Currently, at the age of five years, the patient has a profound psychomotor developmental delay; he has no verbal expression and is unable to walk. He has experienced involuntary movements of the myoclonus since 10 months of age. Whole-exome sequencing of the patient's DNA revealed the presence of a heterozygous de novo variant of DNM1: c.709C>T (p.Arg237Trp). Although the findings from our patient suggest that underlying neural network abnormalities were ameliorated by immunological mechanisms as a result of the viral infection, further research is needed to clarify the mechanisms behind this spontaneous remission of seizures.

2.
Pediatr Neurol ; 157: 29-38, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38848614

RESUMO

BACKGROUND: Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS). METHODS: We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events. RESULTS: The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs. CONCLUSION: ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.


Assuntos
Hormônio Adrenocorticotrópico , Anticonvulsivantes , Dieta Cetogênica , Doença de Leigh , Espasmos Infantis , Humanos , Doença de Leigh/complicações , Lactente , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/complicações , Estudos Retrospectivos , Feminino , Masculino , Anticonvulsivantes/uso terapêutico , Japão , Pré-Escolar , Hormônio Adrenocorticotrópico/administração & dosagem , Recém-Nascido
3.
Epilepsia ; 65(5): 1304-1313, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38469885

RESUMO

OBJECTIVE: Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for gait disturbance. Therefore, the aim of this study was to evaluate the effectiveness of levodopa for pathological gait in people with DS using three-dimensional gait analysis (3DGA). METHODS: Nine individuals with DS, ages 6-20 years, participated in a crossover study of levodopa and were randomly assigned to the levodopa precedence or no levodopa precedence group. Levodopa/carbidopa hydrate was prescribed at a dose of 5 mg/kg/day (body weight <60 kg) or 300 mg/day (body weight ≥60 kg). The medication was taken for 4-6 weeks (4-week washout period). 3DGA was performed three times before the study, with and without levodopa. A mixed-effects model was used to evaluate the effectiveness of levodopa. The primary outcome was the change in the Gait Deviation Index (GDI). In addition, spatiotemporal gait parameters, 6-minute walking distance (6MD), and balance were evaluated. The correlation between the effectiveness of levodopa and age or gait performance before starting levodopa was analyzed. RESULTS: Levodopa improved the GDI by 4.2 points, (p = .029), 6MD by 52 m (p = .002), and balance test result by 4.1 mm (p = .011) in participants with DS. No severe adverse events were observed, with the exception of one participant, who exhibited fever and consequently stopped taking levodopa. Levodopa was more effective in younger participants with a higher baseline gait performance. SIGNIFICANCE: Our randomized crossover trial showed that levodopa has the potential to improve gait disturbance in people with DS.


Assuntos
Estudos Cross-Over , Epilepsias Mioclônicas , Transtornos Neurológicos da Marcha , Levodopa , Humanos , Levodopa/uso terapêutico , Masculino , Feminino , Adolescente , Adulto Jovem , Criança , Transtornos Neurológicos da Marcha/tratamento farmacológico , Transtornos Neurológicos da Marcha/etiologia , Epilepsias Mioclônicas/tratamento farmacológico , Análise da Marcha , Resultado do Tratamento , Carbidopa/uso terapêutico , Marcha/efeitos dos fármacos , Combinação de Medicamentos
4.
Neurogenetics ; 25(1): 3-11, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37882972

RESUMO

Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg2+-dependent, neutral sphingomyelinase family that catalyzes the hydrolysis of the phosphodiester bond of sphingomyelin to form phosphorylcholine and ceramide. Recent studies have revealed that biallelic loss-of-function variants of SMPD4 cause syndromic neurodevelopmental disorders characterized by microcephaly, congenital arthrogryposis, and structural brain anomalies. In this study, three novel loss-of-function SMPD4 variants were identified using exome sequencing (ES) in two independent patients with developmental delays, microcephaly, seizures, and brain structural abnormalities. Patient 1 had a homozygous c.740_741del, p.(Val247Glufs*21) variant and showed profound intellectual disability, hepatomegaly, a simplified gyral pattern, and a thin corpus callosum without congenital dysmorphic features. Patient 2 had a compound heterozygous nonsense c.2124_2125del, p.(Phe709*) variant and splice site c.1188+2dup variant. RNA analysis revealed that the c.1188+2dup variant caused exon 13 skipping, leading to a frameshift (p.Ala406Ser*6). In vitro transcription analysis using minigene system suggested that mRNA transcribed from mutant allele may be degraded by nonsense-mediated mRNA decay system. He exhibited diverse manifestations, including growth defects, muscle hypotonia, respiratory distress, arthrogryposis, insulin-dependent diabetes mellitus, sensorineural hearing loss, facial dysmorphism, and various brain abnormalities, including cerebral atrophy, hypomyelination, and cerebellar hypoplasia. Here, we review previous literatures and discuss the phenotypic diversity of SMPD4-related disorders.


Assuntos
Artrogripose , Deficiência Intelectual , Microcefalia , Malformações do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Masculino , Humanos , Microcefalia/genética , Artrogripose/genética , Transtornos do Neurodesenvolvimento/genética , Deficiência Intelectual/genética , Cerebelo
5.
Hum Genome Var ; 10(1): 30, 2023 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-37993422

RESUMO

Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.3586C>T, p.(Leu1196Phe) and c.3590C>T, p.(Ala1197Val) in NF1 located in cis and c.1042G>C, p.(Ala348Pro) in GABBR1. This study contributes to our understanding of the effect of two cis variants on NF1 phenotypes and GABBR1-related neuropsychiatric disorders.

7.
Brain Dev ; 45(1): 58-69, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36511274

RESUMO

OBJECTIVE: Bile acid intermediates, 3α,7α,12α-trihydroxycholestanoic acid (THCA) and 3α,7α-dihydroxycholestanoic acid (DHCA), are metabolized in peroxisomes. Some peroxisomal disorders (PDs), such as Zellweger spectrum disorder (ZSD), show an accumulation of bile acid intermediates. In particular, ABCD3 deficiency and acyl-CoA-oxidase 2 deficiency are characterized by these metabolite abnormalities. In patients with ZSD, levels of bile acid intermediates can be lowered by a primary bile acid supplementation treatment; therefore, measuring their levels could help evaluate treatment effectiveness. Here, we established a method for the quantitative determination of bile acid intermediates (THCA/DHCA) for differentiating PDs and assessing bile acid treatment. METHODS: Serum samples, obtained from patients with several forms of ZSD as well as peroxisomal ß-oxidation enzyme deficiencies, were deproteinized and analyzed using liquid chromatography-mass spectrometry. RESULTS: Levels of the bile acid intermediates increased significantly in patients with Zellweger syndrome (ZS) and slightly in patients with neonatal adrenoleukodystrophy and infantile Refsum disease (IRD), reflecting the severity of these diseases. One patient with ZS treated with primary bile acids for 6 months showed slightly decreased serum DHCA levels but significantly increased serum THCA levels. One patient with IRD who underwent living-donor liver transplantation showed a rapid decrease in serum THCA and DHCA levels, which remained undetected for 6 years. In all controls, THCA and DHCA levels were below the detection limit. CONCLUSION: The analytical method developed in this study is useful for diagnosing various PD and validating bile acid treatment. Additionally, it can help predict the prognosis of patients with PD and support treatment strategies.


Assuntos
Transplante de Fígado , Transtornos Peroxissômicos , Síndrome de Zellweger , Recém-Nascido , Humanos , Ácidos e Sais Biliares , Doadores Vivos , Transtornos Peroxissômicos/diagnóstico , Síndrome de Zellweger/diagnóstico
8.
Hum Genome Var ; 9(1): 7, 2022 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-35181663

RESUMO

Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3' end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue.

9.
Ann Nucl Med ; 36(4): 340-350, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35098436

RESUMO

PURPOSE: Reactive FDG uptake in the axillary lymph nodes (ALN) and deltoid muscle (DM) after COVID-19 mRNA vaccination has been recognized, although the actual situation in the Japanese population remains unknown. To determine the incidence of reactive FDG uptake and its contributing factors, we retrospectively studied a cohort of subjects who were vaccinated at our hospital. METHODS: Whole-body FDG-PET/CT examinations performed in 237 subjects out of 240 subjects with a definite history of COVID-19 vaccination (BNT162b2; BioNTech-Pfizer) were analyzed. Positivity and SUVmax of FDG uptake in the ALN and DM ipsilateral to vaccination, various subject characteristics, and the grade of the pathological FDG-PET/CT findings were evaluated using a multivariate analysis. RESULTS: FDG uptake in the ALN and DM ipsilateral to vaccination was seen in about 60% of the subjects even soon (0-4 days) after the first vaccination, with percentages reaching 87.5% and 75.0%, respectively, after the second vaccination. DM uptake had almost disappeared at around 2 weeks, while ALN uptake persisted for 3 weeks or longer. A multivariate analysis showed that a short duration since vaccination, a younger age, a female sex, and a low FDG-PET/CT grade (minimal pathological FDG uptake) contributed significantly to positive ALN uptake, while a short duration since vaccination and a female sex were the only significant contributors to positive DM uptake. This study is the first to identify factors contributing to positive FDG uptake in ALN and DM after COVID-19 vaccination. CONCLUSION: A high incidence of FDG uptake in ALN and DM was observed after vaccination. ALN uptake seemed to be associated with a younger age, a female sex, and minimal pathological FDG uptake. After vaccination, an acute inflammatory reaction in DM followed by immune reaction in ALN linked to humoral immunity may be speculated.


Assuntos
Neoplasias da Mama , COVID-19 , Vacina BNT162 , COVID-19/prevenção & controle , Vacinas contra COVID-19 , Estudos de Coortes , Músculo Deltoide , Feminino , Fluordesoxiglucose F18 , Humanos , Incidência , Linfonodos , Análise Multivariada , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , RNA Mensageiro , Estudos Retrospectivos , Vacinação
10.
Int J Neonatal Screen ; 7(3)2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34449525

RESUMO

We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the cerebral form of ALD is hematopoietic stem cell transplantation at an early stage of onset, we have developed a protocol for the rapid diagnosis of ALD that can provide the measurements of the levels of very-long-chain fatty acids in the serum and genetic analysis within a few days. In addition, to improve the prognosis of patients with ALD, we are working on the detection of pre-symptomatic patients by familial analysis from the proband, and the introduction of newborn screening. In this review, we introduce the diagnostic and newborn screening approaches for ALD and PD in Japan.

11.
Ann Nucl Med ; 35(12): 1279-1292, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34406623

RESUMO

OBJECTIVE: Glioma is the most common type of central nervous system tumor reported worldwide. Current imaging technologies have limitations in the diagnosis and assessment of glioma. The present study aimed to confirm the diagnostic efficacy and safety of anti-1-amino-3-[18F]fluorocyclobutane carboxylic acid (18F-fluciclovine; anti-[18F]FACBC) as a radiotracer for patients undergoing combined positron emission tomography and computed tomography (PET/CT) for suspected glioma. METHODS: Combined data from two multicenter, open-label phase III clinical trials were evaluated for this study. The two trials enrolled patients with suspected high- or low-grade glioma on the basis of clinical symptoms, clinical course, and magnetic resonance imaging findings, and who were scheduled for tumor resection surgery. Patients fasted for ≥ 4 h and received 2 mL of 18F-fluciclovine (radioactivity dose 78.3-297.0 MBq), followed by a 10-min PET scan 10-50 min after injection. The primary efficacy endpoint was the positive predictive value (PPV) of the gadolinium contrast-enhanced T1-weighted image negative [Gd (-)] and 18F-fluciclovine PET-positive [PET ( +)] area of the scans, using the histopathological diagnosis of the tissue sampled from that area as the standard of truth. All adverse events reported during the study were recorded for safety analysis. RESULTS: A total of 45 patients aged 23-89 years underwent 18F-fluciclovine PET; 31/45 patients (68.9%) were male, and 30/45 patients (66.7%) were suspected to have high-grade glioma. The PPV of 18F-fluciclovine PET in the Gd (-) PET ( +) area was 88.0% (22/25 areas, 95% confidence interval: 70.0-95.8). The extent of planned tumor resection was modified in 47.2% (17/36 cases) after 18F-fluciclovine PET scan, with an extension of area in 30.6% (11/36 cases) and reduction in 16.7% (6/36 cases). Furthermore, tissue samples collected from PET ( +) areas tended to have a higher malignancy grade compared with those from PET (-) areas. Overall, 18F-fluciclovine was well tolerated. CONCLUSION: 18F-fluciclovine PET/CT is useful for determining the extent of tumor resection at surgical planning, and may serve as a safe and effective diagnostic tool for patients with suspected glioma. TRIAL REGISTRATION: These trials were registered in the Japan Pharmaceutical Information Center Clinical Trials Information (JapicCTI-152986, JapicCTI-152985).


Assuntos
Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada
12.
J Inherit Metab Dis ; 44(5): 1226-1234, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34080208

RESUMO

The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase deficiency (ASNSD). Diagnosis of ASNSD requires genetic tests because a specific biochemical diagnostic for ASNSD is not available. There are a few reports describing the functional evaluation of ASNS variants. Therefore, in vitro methods are needed to evaluate the detected variants in patients. In this report, five types of human ASNS proteins (wild-type and our reported four variants: p.Leu145Ser, p.Leu247Trp, p.Val489Asp, and p.Trp541Cysfs*5) were expressed in silkworm using a baculoviral expression system. An enzymatic activity assay of ASNS was performed, and the concentration of asparagine by ninhydrin and High Performance Liquid Chromatography methods using the purified recombinant proteins was measured. We established ASNS deficient HEK293 cells using the CRISPR/Cas9 method and evaluated the growth of cells without asparagine after transduction of ASNS variants with a lentiviral expression system. The four ASNS variants displayed significantly low enzymatic activity. The ASNS deficient HEK293 cells transduced with wild-type ASNS grew without asparagine, whereas cells transduced with the variants did not grow or showed significantly slower growth than cells transduced with wild-type ASNS. Herein, we established a method for evaluating the enzymatic activity of the recombinant human ASNS variants. The results of the cell-based assay corroborated the results of the enzymatic activity. These methods should enable the evaluation of the pathogenicity of ASNS variants.


Assuntos
Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/genética , Asparagina/metabolismo , Sistemas CRISPR-Cas , Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/deficiência , Variação Genética , Células HEK293 , Humanos
13.
Genet Med ; 23(7): 1234-1245, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33824499

RESUMO

PURPOSE: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency. METHODS: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously. We add 21 individuals with similar PRR12 variants identified via matchmaking platforms, bringing the total number to 24. RESULTS: We observed 12 frameshift, 6 nonsense, 1 splice-site, and 2 missense variants and one patient with a gross deletion involving PRR12. Three individuals had additional genetic findings, possibly confounding the phenotype. All patients had developmental impairment. Variable structural eye defects were observed in 12/24 individuals (50%) including anophthalmia, microphthalmia, colobomas, optic nerve and iris abnormalities. Additional common features included hypotonia (61%), heart defects (52%), growth failure (54%), and kidney anomalies (35%). PrediXcan analysis showed that phecodes most strongly associated with reduced predicted PRR12 expression were enriched for eye- (7/30) and kidney- (4/30) phenotypes, such as wet macular degeneration and chronic kidney disease. CONCLUSION: These findings support PRR12 haploinsufficiency as a cause for a novel disorder with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities.


Assuntos
Haploinsuficiência , Deficiência Intelectual , Animais , Haploinsuficiência/genética , Humanos , Deficiência Intelectual/genética , Camundongos , Hipotonia Muscular , Mutação de Sentido Incorreto , Fenótipo
14.
Orphanet J Rare Dis ; 16(1): 5, 2021 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-33407677

RESUMO

OBJECTIVE: We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC). METHODS: The clinical data of 11 children with clinically diagnosed TSC associated with AE and 109 children with clinically diagnosed TSC alone aged 4 years or older were collected from 13 hospitals. RESULTS: Of the 11 children with AE, 5 had histories of febrile seizures (FS), and all had histories of febrile status epilepticus (FSE). AE developed within 24 h after fever onset in all children with seizures lasting 30 min or longer. All children developed coma after seizure cessation. Head magnetic resonance imaging (MRI) revealed widespread abnormalities in the cerebral cortex, subcortical white matter, corpus callosum, basal ganglia, and thalamus. One child died; seven had severe neurological sequelae; and the other three, mild sequelae. Logistic regression analysis revealed that a history of FSE was correlated with the development of AE. SIGNIFICANCE: AE in children with TSC was characterized by sudden onset after fever, followed by coma, widespread brain edema evident on MRI, and poor outcomes. A history of FSE was a risk factor for the development of AE.


Assuntos
Encefalopatias , Convulsões Febris , Estado Epiléptico , Esclerose Tuberosa , Encefalopatias/etiologia , Criança , Humanos , Lactente , Imageamento por Ressonância Magnética , Convulsões , Convulsões Febris/etiologia , Esclerose Tuberosa/complicações
15.
Ann Nucl Med ; 35(1): 31-46, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33037581

RESUMO

OBJECTIVE: The aim of this multicenter prospective study was to compare the sensitivity of 18F-fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT) with that of 67Ga single photon emission computed tomography (SPECT) for the identification of the site of greatest importance for the final diagnosis of the cause of fever of unknown origin (FUO). METHODS: The study participants consisted of patients with an axillary temperature ≥ 38.0 °C on ≥ 2 occasions within 1 week, with repeated episodes for ≥ 2 weeks prior to providing consent, and whose final diagnosis after undergoing specific examinations, including a chest-to-abdomen CT scan, was uncertain. All the patients underwent FDG-PET/CT imaging first, followed by 67Ga-SPECT imaging within 3 days. The results of the FDG-PET/CT and 67Ga-SPECT examinations were reviewed by the central image interpretation committee (CIIC), which was blinded to all other clinical information. The sensitivities of FDG-PET/CT and 67Ga-SPECT were then evaluated with regard to identifying the site of greatest importance for a final diagnosis of the cause of the fever as decided by the patient's attending physician. The clinical impacts (four grades) of FDG-PET/CT and 67Ga-SPECT on the final diagnosis were evaluated. RESULTS: A total of 149 subjects were enrolled in this study between October 2014 and September 2017. No adverse events were identified among the enrolled subjects. Twenty-one subjects were excluded from the study because of deviations from the study protocol. Among the 128 remaining subjects, a final diagnosis of the disease leading to the appearance of FUO was made for 92 (71.9%) subjects. The final diagnoses in these 92 cases were classified into four groups: noninfectious inflammatory disease (52 cases); infectious disease (31 cases), malignancy (six cases); and other (three cases). These 92 subjects were eligible for inclusion in the study's analysis, but one case did not meet the PET/CT image acquisition criteria; thus, PET/CT results were analyzed for 91 cases. According to the patient-based assessments, the sensitivity of FDG-PET/CT (45%, 95% CI 33.1-58.2%) was significantly higher than that for 67Ga-SPECT (25%, 95% CI 15.5-37.5%) (P = 0.0029). The clinical impact of FDG-PET/CT (91%) was also significantly higher than that for 67Ga-SPECT (57%, P < 0.001). CONCLUSIONS: FDG-PET/CT showed a superior sensitivity to 67Ga-SPECT for the identification of the site of greatest importance for the final diagnosis of the cause of FUO.


Assuntos
Febre de Causa Desconhecida/diagnóstico por imagem , Fluordesoxiglucose F18 , Radioisótopos de Gálio , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adulto , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade
16.
Brain Dev ; 43(3): 396-401, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33309491

RESUMO

BACKGROUND: Childhood cerebral adrenoleukodystrophy (CCALD) is the most common phenotype of adrenoleukodystrophy (ALD) and is characterized by the progression of intellectual, psychic, visual, and gait disturbances. Progression of this intractable disease can only be prevented by hematopoietic stem cell transplantation during the early stages of the disease. The aim of this study was to clinically evaluate children with CCALD who have visual symptoms to enable early diagnosis. METHODS: We enrolled 41 Japanese children with CCALD who had visual symptoms. We retrospectively analyzed age of onset, past medical history, initial symptoms, visual symptoms and findings on brain magnetic resonance imaging. RESULTS: The median age of disease onset was 7 years (range 5-10 years). The most common visual symptom was strabismus (n = 22). There was only one patient with the triad of symptoms of Balint's syndrome. Seventeen patients had incomplete Balint's syndrome and showed one or two of the triad of symptoms. Almost all patients with complete or incomplete Balint's syndrome showed bilateral parieto-occipital white matter lesions. CONCLUSIONS: CCALD could develop into Balint's syndrome, especially the incomplete form. Therefore, CCALD should be considered when boys show new symptoms, including lack of eye contact or bumping into objects.


Assuntos
Adrenoleucodistrofia/complicações , Adrenoleucodistrofia/diagnóstico , Transtornos da Visão/etiologia , Idade de Início , Criança , Pré-Escolar , Humanos , Masculino , Estudos Retrospectivos , Síndrome
18.
J Clin Neurosci ; 81: 431-433, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33222957

RESUMO

Gliomatosis cerebri (GC) is a rare diffusely infiltrating glial neoplasm that carries a poor prognosis. Because tumors are undetectable in most patients at early-stage of the onset, a useful diagnostic method is expected. We compared serum vascular endothelial growth factor (VEGF)-121 levels in patients with GC or glioblastoma and controls. VEGF-121 levels were significantly higher in one patient with GC and patients with glioblastoma than in controls. VEGF-121 levels decreased in a patient with GC after bevacizumab-based therapy. Thus, VEGF-121 may be useful for diagnosing GC, its disease-monitoring and understanding its etiology.


Assuntos
Astrocitoma/patologia , Biomarcadores Tumorais/sangue , Neoplasias Encefálicas/patologia , Neoplasias Neuroepiteliomatosas/patologia , Fator A de Crescimento do Endotélio Vascular/sangue , Antineoplásicos Imunológicos/uso terapêutico , Astrocitoma/sangue , Bevacizumab/uso terapêutico , Neoplasias Encefálicas/sangue , Neoplasias Encefálicas/tratamento farmacológico , Criança , Glioblastoma/sangue , Humanos , Masculino , Neoplasias Neuroepiteliomatosas/sangue , Neoplasias Neuroepiteliomatosas/tratamento farmacológico
20.
Injury ; 51(4): 871-877, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32143858

RESUMO

OBJECTIVE: There are currently no robust methods for accurately localizing the infection focus of osteomyelitis. Accumulation of fluorodeoxyglucose (FDG) is nonspecific, and it is well-known that it can indicate inflammatory cells and sites of inflammation, and its effectiveness in detecting osteomyelitis has been reported recently. However, the optimal cut-off value for the Standardized Uptake Value (SUV) in detecting the focus of osteomyelitis through 18F-FDG-PET/CT is not known. We investigated the optimal SUV cut-off values using 18F-FDG positron emission tomography (PET)computed tomography (CT) to visualize the infection focus of osteomyelitis accurately. PATIENTS AND METHODS: Initially, we investigated a case where osteomyelitis was bacteriologically detected after orthopedic surgery on lower limb. Based on the surgical pathology, we explored the optimal SUV cut-off value of the 18F-FDG PET/CT image taken before surgery. The SUV cut-off value was varied, using the GE Rainbow Color Scale on a dedicated workstation. We searched for the most accurate visualization of the extent of the infectious lesion. Subsequently, using the SUV cut-off value decided on the basis of the first case studied, we investigated the accuracy for diagnosing osteomyelitis. A total of sixteen patients underwent 18F-FDG PET/CT for suspected osteomyelitis (one case involved the upper extremity and 15 cases the lower one). All patients underwent surgery. The final diagnosis was made by means of bacteriologic culture of surgical specimens and histopathologic analysis. We compared surgical pathology and preoperative 18F-FDG PET/CT. RESULTS: In the first case studied, the infection was most accurately localized with a SUV with a lower level of 2.00 and an upper of 8.00. Upon comparing the pathological findings and the 18F-FDG PET/CT, we set a SUV with a lower level of 2.00 and an upper level of 8.00. In thirteen cases, infection was detected with positive pathological findings. Preoperative 18F-FDG PET/CT showed high accumulation in these cases. In the remaining three cases, no infection was detected on either pathological findings nor 18F-FDG PET/CT findings. CONCLUSIONS: The infection focus of osteomyelitis was accurately visualized by setting the SUV cut-off lower level to 2.00 and upper level to 8.00. We believe that this 18F-FDG PET/CT technique is helpful for image guided surgery of osteomyelitis.


Assuntos
Fluordesoxiglucose F18 , Osteomielite/diagnóstico , Osteomielite/patologia , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteomielite/cirurgia , Cirurgia Assistida por Computador , Adulto Jovem
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