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1.
Pediatr Res ; 2024 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-38902452

RESUMO

BACKGROUND: Children born with very low birth weight (VLBW) are at higher risk for cognitive impairment, including language deficits and sensorimotor difficulties. Voice-evoked response (P1m), which has been suggested as a language development biomarker in young children, remains unexplored for its efficacy in VLBW children. Furthermore, the relation between P1m and sensory difficulties in VLBW children remains unclear. METHODS: 40 children with VLBW were recruited at 5-to-6 years old (26 male, 14 female, mean age of months ± SD, 80.0 ± 4.9). We measured their voice-evoked brain response using child-customized magnetoencephalography (MEG) and examined the relation between P1m and language conceptual inference ability and sensory characteristics. RESULTS: The final sample comprised 36 children (23 boys, 13 girls; ages 61-86 months; gestational ages 24-36 weeks). As a result of multiple regression analysis, voice-evoked P1m in the left hemisphere was correlated significantly with language ability (ß = 0.414 P = 0.015) and sensory hypersensitivity (ß = 0.471 P = 0.005). CONCLUSION: Our findings indicate that the relation between P1m and language conceptual inference ability observed in term children in earlier studies is replicated in VLBW children, and suggests P1m intensity as a biomarker of sensory sensitivity characteristics. IMPACT: We investigated brain functions related to language development and sensory problems in very low birth-weight children. In very low birth weight children at early school age, brain responses to human voices are associated with language conceptual inference ability and sensory hypersensitivity. These findings promote a physiological understanding of both language development and sensory characteristics in very low birth weight children.

3.
Pediatr Res ; 2023 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-37857850

RESUMO

BACKGROUND: The association between prenatal metal exposure and congenital anomalies is unclear. We aimed to examine the association between exposure to cadmium, lead, mercury, selenium, and manganese and physical abnormalities. METHODS: Data from 89,887 pregnant women with singleton pregnancies who participated in the Japan Environment and Children's Study (JECS) were used. The correlation between maternal blood metal concentrations and physical abnormalities during the second or third trimester was investigated using logistic regression models. Physical anomalies included those observed at birth or at 1 month, primarily from ICD-10 Chapter 17, particularly congenital anomalies associated with environmental factors (e.g., hypospadias, cryptorchidism, cleft lip and palate, digestive tract atresia, congenital heart disease, and chromosomal abnormalities) and minor abnormalities. RESULTS: After adjusting for covariates, the OR (95% CIs) of physical abnormalities for a one-unit rise in Mn concentrations in all individuals were 1.26 (1.08, 1.48). The OR (95% CIs) of physical abnormalities in the 4th quartile (≥18.7 ng/g) were 1.06 (1.01, 1.13) (p-value for the trend = 0.034) compared with those in the 1st quartile (≤12.5 ng/g). CONCLUSION: In Japan, maternal blood Mn concentrations above threshold during pregnancy may slightly increase the incidence of physical abnormalities. IMPACT: Physical abnormalities (including minor anomalies and congenital anomalies) are associated with prenatal manganese concentrations. They are not associated with cadmium, lead, mercury, and selenium concentrations.

4.
Sci Rep ; 12(1): 20032, 2022 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-36414705

RESUMO

A number of studies have been made on the sleep characteristics of children born preterm in an attempt to develop methods to address the sleep problems commonly observed among such children. However, the reported sleep characteristics from these studies vary depending on the observation methods used, i.e., actigraphy, polysomnography and questionnaire. In the current study, to obtain reliable data on the sleep characteristics of preterm-born children, we investigated the difference in sleep properties between 97 preterm and 97 term toddlers of approximately 1.5 years of age using actigraphy. Actigraphy units were attached to the toddlers' waists with an adjustable elastic belt for 7 consecutive days, and a child sleep diary was completed by their parents. In the study, we found that preterm toddlers had more nocturnal awakenings and more daytime activity, suggesting that preterm-born children may have a different process of sleep development in their early development.


Assuntos
Qualidade do Sono , Sono , Pré-Escolar , Humanos , Recém-Nascido , Actigrafia , Polissonografia , Recém-Nascido Prematuro
6.
J Dermatol ; 49(2): 232-238, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34918369

RESUMO

Kawasaki disease (KD) is vasculitis of unknown etiology in infants and young children. The diagnostic criteria for KD include major and minor symptoms, but various nail lesions are not described in detail. The aim of this study was to identify symptoms that are relatively found in nail of KD as diagnostic markers. After literature review, various nail lesions are classified as Beau's lines, leukonychia, onychomadesis, orange-brown chromonychia, and pincer nail deformity. The orange-brown chromonychia is the most common nail lesion in KD. In this study, the authors found three cases of KD with orange-brown chromonychia; two of these cases included rare dotted or splinter hemorrhages in the nail bed that were found on dermoscopic examination. The authors propose that these nail lesions, including hemorrhage of the nail bed, could be included as a helpful diagnosis of KD.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Doenças da Unha , Criança , Pré-Escolar , Humanos , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Doenças da Unha/diagnóstico , Doenças da Unha/etiologia , Unhas
7.
Sci Rep ; 11(1): 15921, 2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34354199

RESUMO

Our recent study on full-term toddlers demonstrated that daytime nap properties affect the distribution ratio between nap and nighttime sleep duration in total sleep time but does not affect the overall total amount of daily sleep time. However, there is still no clear scientific consensus as to whether the ratio between naps and nighttime sleep or just daily total sleep duration itself is more important for healthy child development. In the current study, to gain an answer to this question, we examined the relationship between the sleep properties and the cognitive development of toddlers born prematurely using actigraphy and the Kyoto scale of psychological development (KSPD) test. 101 premature toddlers of approximately 1.5 years of age were recruited for the study. Actigraphy units were attached to their waist with an adjustable elastic belt for 7 consecutive days and a child sleep diary was completed by their parents. In the study, we found no significant correlation between either nap or nighttime sleep duration and cognitive development of the preterm toddlers. In contrast, we found that stable daily wake time was significantly associated with better cognitive development, suggesting that sleep regulation may contribute to the brain maturation of preterm toddlers.


Assuntos
Desenvolvimento Infantil/fisiologia , Cognição/fisiologia , Sono/fisiologia , Actigrafia/métodos , Feminino , Humanos , Lactente , Recém-Nascido Prematuro/crescimento & desenvolvimento , Masculino , Polissonografia/métodos , Fatores de Tempo , Vigília/fisiologia
8.
Sci Rep ; 11(1): 3028, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33542276

RESUMO

The purpose of the present study is to examine the association between toddlers' sleep arrangements and their nighttime sleep duration and other sleep variables. For this investigation, we performed a study in which child activity and sleep levels were recorded using actigraphy. The parents of 1.5-year-old toddlers (n = 106) were asked to attach an actigraphy unit to their child's waist with an adjustable elastic belt and complete a sleep diary for 7 consecutive days. Questionnaires were used to assess the sleep arrangements of the toddlers. There was a significant negative correlation between nap duration and nighttime sleep duration, suggesting that longer nap sleep induces shorter nighttime sleep duration. Among the sleep arrangements, such as nighttime breastfeeding or co-sleeping, only nighttime breastfeeding predicted shorter nighttime sleep duration. Our findings indicate that shorter naps induce a longer nighttime sleep in 1.5-year-old toddlers while nighttime breastfeeding decreases their nighttime sleep duration.


Assuntos
Aleitamento Materno , Distúrbios do Sono por Sonolência Excessiva/epidemiologia , Sono/fisiologia , Actigrafia , Pré-Escolar , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Inquéritos e Questionários , Fatores de Tempo
9.
Early Hum Dev ; 155: 105323, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33578219

RESUMO

BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at birth, infants exhibit an oxygenation disorder accompanied by severe pulmonary hypertension (PH) and have a very short life span. ACDMPV is definitively diagnosed by pathological findings, and infants born with unexplained severe PH may not be properly diagnosed without a biopsy or autopsy. METHODS: Japanese infants with unexplained severe PH were enrolled in this study. Genetic analyses were performed on DNA extracted from peripheral blood leukocytes. Sanger sequencing or next-generation sequencing was performed by coding exons and introns for FOXF1 in all samples. For individuals without pathogenic exonic variants, multiplex ligation-dependent probe amplification was performed to identify copy number variations (CNVs) in exons, introns, and in the upstream region of FOXF1. RESULTS: This study included 30 infants who were diagnosed over the course of nine years. Four individuals had the pathogenic variations on the exon 1 of FOXF1, including two frameshift and two missense variations. Pathogenic CNVs were found in another five individuals. CONCLUSION: In the pathologically proven ACDMPV patients, the ratios of cases with exonic variations, CNVs, and no genetic findings were reported as 45%, 45% and 10%, respectively. We estimate that about 30% (10 (9 + 1) out of 30) of individuals with unexplained severe PH had ACDMPV.


Assuntos
Hipertensão Pulmonar , Síndrome da Persistência do Padrão de Circulação Fetal , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Testes Genéticos , Humanos , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/genética , Incidência , Lactente , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/epidemiologia , Síndrome da Persistência do Padrão de Circulação Fetal/genética
10.
JA Clin Rep ; 5(1): 38, 2019 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-32026046

RESUMO

BACKGROUND: Peripartum cardiomyopathy is an uncommon form of heart failure that occurs in otherwise healthy women during pregnancy or until 5 months postpartum. Here, we report a rare case where a female patient underwent cesarean section after the occurrence of preeclampsia and intrauterine fetal death, and developed peripartum cardiomyopathy following postsurgical respiratory distress. The prompt initiation of inotropic drug and bromocriptine therapy quickly restored cardiac function. CASE PRESENTATION: The patient was a 36-year-old woman who underwent emergency cesarean section for a previous preeclampsia and an intrauterine fetal death that occurred after 24 weeks of pregnancy. In addition, the patient had an extremely low platelet count of 5000/µL on admission. She had been diagnosed as idiopathic thrombocytopenic purpura at the age of 29 years old and treated with prednisolone at 15 mg/day. Therefore, the cesarean section was performed under general anesthesia. The patient did not exhibit respiratory or hemodynamic dysfunction during surgery. However, she developed respiratory distress with sinus tachycardia after extubation and was transferred to the intensive care unit. A chest radiograph showed butterfly shadows, and transthoracic echocardiogram confirmed the reduction of left ventricle contractility (ejection fraction 20%). She was diagnosed with peripartum cardiomyopathy and treated immediately with intravenous milrinone, oral bromocriptine, and angiotensin-converting enzyme inhibitor. Respiratory and hemodynamic function improved rapidly, and the patient was moved to the general ward 2 days after surgery. Fourteen days after surgery, the patient had an ejection fraction of 57%. The patient recovered without any further complications and was discharged 24 days after surgery. CONCLUSION: A sudden case of peripartum cardiomyopathy was successfully managed by a prompt diagnosis and treatment with inotropic agents and bromocriptine.

11.
Case Rep Crit Care ; 2018: 9790459, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29984006

RESUMO

Diffuse alveolar hemorrhage (DAH) refers to the effusion of blood into the alveoli due to damaged pulmonary microvasculature. The ensuing alveolar collapse can lead to severe hypoxemia with poor prognosis. In these cases, it is crucial to provide respiratory care for hypoxemia in addition to treating the underlying disease. Here, we describe our experience with a case involving a 46-year-old woman with severe DAH-induced hypoxemia accompanying systemic lupus erythematosus (SLE). Mechanical ventilation was managed using airway pressure release ventilation (APRV) after intubation. Through APRV-based respiratory care and treatment of the underlying disease, hemoptysis was eliminated and oxygenation improved. The patient did not experience significant barotrauma and was successfully weaned from mechanical ventilation after 25 days in the intensive care unit. This case demonstrates that APRV-based control for respiratory management can inhibit the effusion of blood into the alveoli and achieve mechanical hemostasis, as well as mitigate alveolar collapse. APRV may be a useful method for respiratory care in patients with severe DAH-induced hypoxemia.

12.
Case Rep Crit Care ; 2017: 4527597, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29464127

RESUMO

A 33-year-old pregnant woman was referred to our hospital with respiratory distress at 30 weeks of gestation. Chest computed tomography (CT) scans revealed pulmonary infiltrates along the bronchovascular bundles and ground-glass opacities in both lungs. Despite immediate treatment with steroid pulse therapy for suspected interstitial pneumonia, the patient's condition worsened. Respiratory distress was slightly alleviated after the initiation of high-flow nasal cannula (HFNC) oxygen therapy (40 L/min, FiO2 40%). We suspected clinically amyopathic dermatomyositis (CADM) complicating rapidly progressive refractory interstitial pneumonia. In order to save the life of the patient, the use of combination therapy with immunosuppressants was necessary. The patient underwent emergency cesarean section and was immediately treated with immunosuppressants while continuing HFNC oxygen therapy. The neonate was treated in the neonatal intensive care unit. The patient's condition improved after 7 days of hospitalization; by this time, she was positive for myositis-specific autoantibodies and was diagnosed with interstitial pneumonia preceding dermatomyositis. This condition can be potentially fatal within a few months of onset and therefore requires early combination immunosuppressive therapy. This case demonstrates the usefulness of HFNC oxygen therapy for respiratory management as it negates the need for intubation and allows for various treatments to be quickly performed.

13.
J Phys Ther Sci ; 28(10): 2904-2908, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27821959

RESUMO

[Purpose] The aims of the present study were to investigate the most suitable location for vibroarthrography measurements of the knee joint to distinguish a healthy knee from knee osteoarthritis using Wavelet transform analysis. [Subjects and Methods] Participants were 16 healthy females and 17 females with severe knee osteoarthritis. Vibroarthrography signals were measured on the medial and lateral epicondyles, mid-patella, and tibia using stethoscopes with a microphone while subjects stood up from a seated position. Frequency and knee flexion angles at the peak wavelet coefficient were obtained. [Results] Peak wavelet coefficients at the lateral condyle and tibia were significantly higher in patients with knee osteoarthritis than in the control group. Knee joint angles at the peak wavelet coefficient were smaller (more extension) in the osteoarthritis group compared to the control group. The area under the receiver operating characteristic curve on tibia assessment with the frequency and knee flexion angles was higher than at the other measurement locations (both area under the curve: 0.86). [Conclusion] The tibia is the most suitable location for classifying knee osteoarthritis based on vibroarthrography signals.

14.
J Pediatr Hematol Oncol ; 37(4): e238-41, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25171454

RESUMO

We describe a boy with Schinzel-Giedion syndrome who developed refractory sacrococcygeal germ cell tumor with elements of embryonal carcinoma and immature teratoma. He developed local recurrence soon after tumor resection. The tumor was highly resistant to platinum-based combination chemotherapy, local irradiation, and salvage chemotherapy. Frequent infections resulted in a delay in treatment, although apparent fragility had not been observed clinically. He died from tumor progression at 32 months of age. Intensification of chemotherapy does not seem to be feasible for tumors in patients with Schinzel-Giedion syndrome.


Assuntos
Anormalidades Craniofaciais/complicações , Deformidades Congênitas da Mão/complicações , Deficiência Intelectual/complicações , Unhas Malformadas/complicações , Neoplasias Embrionárias de Células Germinativas/terapia , Anormalidades Múltiplas , Proteínas de Transporte/genética , Pré-Escolar , Humanos , Masculino , Mutação , Neoplasias Embrionárias de Células Germinativas/etiologia , Neoplasias Embrionárias de Células Germinativas/genética , Proteínas Nucleares/genética , Região Sacrococcígea
15.
World J Microbiol Biotechnol ; 28(2): 677-86, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22806863

RESUMO

The biogenic production of hydrogen sulfide is a serious problem associated with wastewater treatment. The aim of this study was to investigate the inhibitory effect of nitrate on the dynamics of sulfate-reducing bacteria (SRB) community in a laboratory-scale wastewater reactor, originating from a denitrifying plant using activated sludge. For this purpose, denaturing gradient gel electrophoresis (DGGE) analysis targeting the dsrB (dissimilatory sulfite reductase) gene was used in combination with chemical analyses and measurement of oxidation and reduction potential (ORP). The reactors were initially dosed with 1.0 and 4.0 g/L potassium nitrate and anaerobically incubated for 490 h. Addition of 4.0 g/L nitrate to the reactor was associated with a prolonged inhibition (over 300 h, i.e., 12.5 days) of sulfate reduction and this was consistent with a rapid decrease in ORP associated with nitrate depletion. The DGGE analysis revealed that nitrate addition remarkably attenuated a distinct group of dsrB related to Desulfovibrio, whereas other dsrB groups were not influenced. Furthermore, another sulfate reduction by Syntrophobacter in the later stages of the incubation period occurred in both reactors (regardless of the nitrate concentration), suggesting that different SRB groups are associated with sulfate reduction at different stages of the wastewater treatment process.


Assuntos
Nitratos/metabolismo , Esgotos/microbiologia , Bactérias Redutoras de Enxofre/metabolismo , Águas Residuárias/microbiologia , Eletroforese em Gel de Gradiente Desnaturante , Sulfito de Hidrogênio Redutase/genética , RNA Ribossômico 16S/genética , Bactérias Redutoras de Enxofre/classificação , Bactérias Redutoras de Enxofre/genética
16.
Biochem Biophys Res Commun ; 417(2): 765-70, 2012 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-22198435

RESUMO

The structural features of osteocytes and their cellular process network are thought to allow for mechanotransduction from the bone tissue to these cells. This study applied three-dimensional fluorescence microscopy to fixed and decalcified bone specimens to quantitatively compare the osteocytes and their networks between mouse parietal bone and tibia that are physiologically enforced by distinct mechanical loads. The subsequent morphometric analysis by the surface rendering of osteocyte cell bodies revealed the tibia to have relatively enriched cytoplasm in the osteocyte cell body in comparison to the parietal bone. Furthermore, quantitative tracing of the cellular processes in silico demonstrated that the numbers of the cellular processes and their bifurcation points per osteocyte in the tibia were significantly higher than those in the parietal bone. Though the total length of the processes per osteocyte in the tibia was two times longer, its total surface area and total volume were smaller than those in the parietal bone, due to its thinner diameter. These architectural differences in the osteocytes and their networks are thus implicated in the adaptation to physiologically different loading, and may also induce distinct mechanosensitivities.


Assuntos
Osso e Ossos/ultraestrutura , Mecanotransdução Celular , Osteócitos/ultraestrutura , Crânio/ultraestrutura , Animais , Camundongos , Camundongos Endogâmicos C57BL , Microscopia de Fluorescência
17.
J Diabetes Investig ; 3(4): 402-9, 2012 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-24843597

RESUMO

UNLABELLED: Aims/Introduction: Chronic inflammation aggravates glycemic control in patients with type 2 diabetes mellitus. An increase or decrease in the release and activities of various inflammatory mediators, such as tumor necrosis factor (TNF)-α, interleukin (IL)-6, and C-reactive protein (CRP), are presumed to be responsible for inducing insulin resistance. The purpose of the present study was to examine the effects of non-surgical periodontal treatment incorporating topical antibiotics on glycemic control and serum inflammatory mediators in patients with type 2 diabetes mellitus with periodontitis. MATERIALS AND METHODS: Periodontal inflammation and periodontal tissue destruction were evaluated by bleeding on probing (BOP) and the probing pocket depth (PPD), respectively. A total of 41 patients with type 2 diabetes and periodontitis received periodontal treatment with the topical application of antibiotics four times within a 2-month period. A periodontal examination, including PPD and BOP, and venous blood sampling were carried out at baseline and at 2 and 6 months after periodontal treatment. Glycated hemoglobin (HbA1c), and serum levels of high-sensitivity (hs)-CRP, TNF-α and IL-6 were analyzed. RESULTS: A generalized linear model showed significant associations between the change in the HbA1c values at 6 months after periodontal treatment, and the change in the BOP, baseline TNF-α levels and the baseline mean PPD. CONCLUSIONS: As BOP is a marker of total gingival inflammation, these results suggest that non-surgical periodontal therapy with topical antibiotics in patients with mild periodontitis might improve glycemic control by resolving periodontal inflammation. Such treatments might be insufficient for the amelioration of insulin resistance in type 2 diabetic patients with severe periodontitis. This trial was registered with the University Hospital Medical Information Network (no. UMIN000006693). (J Diabetes Invest, doi: 10.1111/j.2040-1124.2012.00209.x, 2012).

18.
Comp Immunol Microbiol Infect Dis ; 33(3): 227-41, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19027953

RESUMO

Signaling lymphocyte activation molecule (SLAM) is thought to be a major cellular receptor for high-host specificity morbilliviruses, which cause devastating and highly infectious diseases in mammals. We determined the sequences of SLAM cDNA from five species of marine mammal, including two cetaceans, two pinnipeds and one sirenian, and generated three-dimensional models to understand the receptor-virus interaction. Twenty-one amino acid residues in the immunoglobulin-like V domains of the SLAMs were shown to bind the viral protein. Notably, the sequences from pinnipeds and dogs were highly homologous, which is consistent with the fact that canine distemper virus was previously shown to cause a mass die-off of seals. Among these twenty-one residues, eight (63, 66, 68, 72, 84, 119, 121 and 130) were shared by animal groups susceptible to a particular morbillivirus species. This set of residues appears to determine host-virus specificity and may be useful for risk estimation for morbilliviruses.


Assuntos
Antígenos CD/química , Interações Hospedeiro-Patógeno , Infecções por Morbillivirus/virologia , Morbillivirus/fisiologia , Receptores de Superfície Celular/química , Especificidade da Espécie , Sequência de Aminoácidos , Animais , Caniformia , Cetáceos , Cães , Hemaglutininas Virais/genética , Humanos , Modelos Biológicos , Conformação Molecular , Dados de Sequência Molecular , Filogenia , Análise de Sequência de Proteína , Membro 1 da Família de Moléculas de Sinalização da Ativação Linfocitária , Sirênios , Ligação Viral
19.
J Clin Oncol ; 23(3): 422-31, 2005 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-15659489

RESUMO

PURPOSE: Docetaxel is one of the most effective anticancer drugs available in the treatment of breast cancer. Nearly half of the treated patients, however, do not respond to chemotherapy and suffer from side effects. The ability to reliably predict a patient's response based on tumor gene expression will improve therapeutic decision making and save patients from unnecessary side effects. PATIENTS AND METHODS: A total of 44 breast tumor tissues were sampled by biopsy before treatment with docetaxel, and the response to therapy was clinically evaluated by the degree of reduction in tumor size. Gene expression profiling of the biopsy samples was performed with 2,453 genes using a high-throughput reverse transcriptase polymerase chain reaction technique. Using genes differentially expressed between responders and nonresponders, a diagnostic system based on the weighted-voting algorithm was constructed. RESULTS: This system predicted the clinical response of 26 previously unanalyzed samples with over 80% accuracy, a level promising for clinical applications. Diagnostic profiles in nonresponders were characterized by elevated expression of genes controlling the cellular redox environment (ie, redox genes, such as thioredoxin, glutathione-S-transferase, and peroxiredoxin). Overexpression of these genes protected cultured mammary tumor cells from docetaxel-induced cell death, suggesting that enhancement of the redox system plays a major role in docetaxel resistance. CONCLUSION: These results suggest that the clinical response to docetaxel can be predicted by gene expression patterns in biopsy samples. The results also suggest that one of the molecular mechanisms of the resistance is activation of a group of redox genes.


Assuntos
Antineoplásicos Fitogênicos/farmacologia , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Perfilação da Expressão Gênica , Taxoides/farmacologia , Adulto , Idoso , Antineoplásicos Fitogênicos/uso terapêutico , Biópsia , Neoplasias da Mama/patologia , DNA de Neoplasias/análise , Tomada de Decisões , Docetaxel , Feminino , Previsões , Humanos , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase , Taxoides/uso terapêutico , Resultado do Tratamento
20.
Jpn J Clin Oncol ; 34(2): 74-7, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15067099

RESUMO

BACKGROUND: It was recently demonstrated that the WT1 gene was overexpressed in primary breast cancer and that the high expression levels of WT1 mRNA significantly correlated with poor prognosis. However, it remained undetermined whether or not the WT1 gene expressed in breast cancer had mutations. METHODS: Breast cancer tissues were obtained from 36 patients with breast cancer. WT1 genomic DNA was PCR-amplified and examined for mutations by direct sequencing. RESULTS: The sequencing analysis showed the absence of mutations through the whole 10 exons of the WT1 gene in the 36 cases of primary breast cancer. Two different single nucleotide polymorphisms (SNP) without an amino acid change (Pro42, C to T in exon 1, and/or Arg300, A to G in exon 7) were detected in the WT1 gene in 31 (86%) of the 36 cases examined. CONCLUSION: The results indicate that the wild-type WT1 gene plays an important role in the tumorigenesis of primary breast cancer.


Assuntos
Neoplasias da Mama/genética , Mutação , Proteínas WT1/genética , Adulto , Idoso , Neoplasias da Mama/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , RNA Mensageiro/biossíntese , Análise de Sequência de DNA , Proteínas WT1/biossíntese
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