RESUMO
More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.
Assuntos
Suscetibilidade a Doenças , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Alelos , Família , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Genótipo , Perda Auditiva/diagnóstico , Humanos , Japão/epidemiologia , Mutação , Fenótipo , Prevalência , Vigilância em Saúde Pública , SíndromeRESUMO
Sinus fungal ball is defined as noninvasive chronic rhino-sinusitis with a clump of mold in the paranasal sinuses, typically affecting the maxillary sinus. Fairly good outcomes of endoscopic surgery have been reported where the ball is removed through the antrostomy. However, the affected sinus tends to have a smaller cavity and thicker bony walls. As such, it is often challenging to maintain a window size that is sufficient to control possible recurrence. The endoscopic modified medial maxillectomy procedure was applied to a 61-year old and a 70-year old female patient with maxillary sinus fungal ball. Using this method, we created a much larger inferior meatal antrostomy without difficulty. The window provided us with an endoscopic view of the whole sinus and complete eradication of the lesion. Endoscopic modified medial maxillectomy is useful as a surgical procedure for maxillary sinus fungal ball and should be considered for better outcomes.
Assuntos
Hiperostose/cirurgia , Seio Maxilar/cirurgia , Micetoma/cirurgia , Idoso , Doença Crônica , Endoscopia , Feminino , Humanos , Pessoa de Meia-Idade , SinusiteRESUMO
We conducted a multicenter retrospective study for evaluating the background of and diagnostic opportunity for 651 patients with primary hepatocellular carcinoma (HCC). The etiologies were hepatitis B virus (HBV) in 20.0% of patients, hepatitis C virus (HCV) in 36.3%, and non-B non-C (NBNC) in 43.5%. The characteristics of non-alcoholic NBNC HCC patients included low frequency of liver cirrhosis and high frequency of life style-related diseases. The mean diameter of HCC was approximately 4cm. Most patients were diagnosed using ultrasonography and dynamic computed tomography (CT). However, 18.6% of patients were diagnosed using conventional contrast-enhanced CT. Compliance with the surveillance program for HCC diagnosis was 35.4% in HBV carriers and 49.2% in HCV carriers. The main causes of deviation from the program included undiagnosed HBV and HCV carriers, non-compliance with the surveillance program by physicians, and no medical care for HBV and HCV carriers. For an early diagnosis of HCC, it is essential to improve the diagnoses of HBV and HCV carriers, promote the follow-ups of HBV and HCV carriers in hospitals, re-educate physicians, and identify the risk factors of NBNC HCC.
Assuntos
Carcinoma Hepatocelular/diagnóstico , Neoplasias Hepáticas/diagnóstico , Idoso , Carcinoma Hepatocelular/etiologia , Feminino , Humanos , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/patologia , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
We found that stem-cell leukemia (SCL), also known as T cell acute-lymphocytic leukemia (Tal-1) gene expression, was upregulated in the maturing rat testis. Strong expression of Tal-1 was detected in the normal maturing rat testis by Northern blotting. Western blotting revealed the protein size to be about 34 kDa. Protein expression was wide-spread in spermatocytes, spermtids and spermatogonia in accordance with the seminiferous epithelium cycle, as determined by an analysis of immunohistochemistry. Gene expression of Tal-1 regulatory gene, NKX3.1, was negatively correlated with Tal-1 expression. Human Tal-1 expression in the maturing testis as well as in bone marrow was observed, which suggests that the gene product is a novel cancer-testis antigen candidate. Taken together, TAL-1 may be involved in cell division, morphological changes, and the development of spermatogenic cells in the normal rat testis.
Assuntos
Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Testículo/crescimento & desenvolvimento , Animais , Clonagem Molecular , Humanos , Masculino , Ratos , Análise de Sequência de DNA , Espermatogênese , Testículo/metabolismoRESUMO
We screened the gene that encodes tetratricopeptide repeat domain 29 (Ttc29) in the maturing rat testis. Gene expression was determined by Northern blotting of 7-week-old rat testes, and a strong signal was detected close to the 18S rRNA band in addition to two weak high-molecular-weight signals. In situ hybridization revealed that Ttc29 was expressed primarily in the spermatocytes. We evaluated the effect of gonadotropin on Ttc29 expression using hypophysectomized rats. The pituitary was removed from 3-week-old rats, gonadotropin was injected at 5 weeks, and Ttc29 expression was determined at 7 weeks. Although testicular development and hyperplasia of interstitial cells were observed following chorionic gonadotropin treatment after hypophysectomy, Ttc29 expression was upregulated by treatment with follicle-stimulating hormone. Ttc29 encodes axonemal dynein, a component of sperm flagella. Taken together, these data indicate that axonemal dynein expression starts in the spermatocytes and is regulated by follicle-stimulating hormone.
Assuntos
Dineínas/genética , Regulação da Expressão Gênica no Desenvolvimento , Células Intersticiais do Testículo/metabolismo , Espermatócitos/metabolismo , Espermatogênese/genética , Animais , Gonadotropina Coriônica/farmacologia , Dineínas/metabolismo , Hormônio Foliculoestimulante/farmacologia , Hipofisectomia , Hibridização In Situ , Células Intersticiais do Testículo/citologia , Masculino , Hipófise/fisiologia , Hipófise/cirurgia , Ratos , Ratos Sprague-Dawley , Cauda do Espermatozoide/efeitos dos fármacos , Cauda do Espermatozoide/fisiologia , Espermatócitos/citologia , Espermatogênese/efeitos dos fármacosRESUMO
BACKGROUND/AIMS: The purpose of this study was to investigate whether bubble images after radiofrequency ablation (RFA) can predict the ablated area. METHODOLOGY: The spread of bubbles 5 minutes after RFA were compared with the unenhanced area of virtual sonography with magnetic navigation in two RFA methods: expandable needle and cool-tip needle. RESULTS: Thirty-one hepatocellular carcinoma nodules were treated by RFA with either an expandable needle or cool-tip needle (n=14 and n=17, respectively) and examined. In the 14 nodules treated by expandable needle, bubble images (puncture direction; r=0.833, p=0.0002, perpendicular direction; r=0.803, p=0.0005) were closely correlated with the unenhanced area of virtual sonography. On the other hand, in 17 nodules treated by cool-tip needle, there was no correlation between the bubble images and virtual sonography (puncture direction; r=0.590, p=0.0127, perpendicular direction; r=0.342, p=0.180). CONCLUSIONS: The observation of bubbles with the expandable needle can accurately predict the ablated area and is helpful for assessing local control of RFA.
Assuntos
Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/cirurgia , Ablação por Cateter/métodos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/cirurgia , Idoso , Feminino , Humanos , Modelos Lineares , Imageamento por Ressonância Magnética , Masculino , Microbolhas , Pessoa de Meia-Idade , Agulhas , Recidiva Local de Neoplasia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , UltrassonografiaRESUMO
CONTEXT: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown. OBJECTIVE: The objective of the study was to examine the genetic causes and phenotypic determinants in AEXS. PATIENTS: Eighteen affected males from six families participated in the study. RESULTS: We identified three types of heterozygous genomic rearrangements, i.e. a 79,156-bp tandem duplication involving seven of 11 noncoding CYP19A1 exons 1, a 211,631-bp deletion involving exons 2-43 of DMXL2 and exons 5-10 of GLDN, and a 165,901-bp deletion involving exons 2-43 of DMXL2. The duplicated exon 1 functioned as transcription start sites, and the two types of deletions produced the same chimeric mRNA consisting of DMXL2 exon 1 and CYP19A1 coding exons. The DMXL2 exon 1 harbored a translation start codon, and the DMXL2/CYP19A1 chimeric mRNA was identified in only 2-5% of CYP19A1-positive transcripts. This was in contrast to the inversion-mediated chimeric mRNA that had no coding sequence on the fused exon 1 and accounted for greater than 80% of CYP19A1-positive transcripts. CYP19A1 was expressed in a limited number of tissues, whereas its neighboring genes involved in the chimeric mRNA formation were expressed widely. CONCLUSIONS: This study provides novel mechanisms leading to gain of function of CYP19A1. Furthermore, it appears that clinical severity of AEXS is primarily determined by the tissue expression pattern of relevant genes and by the structural property of promoter-associated exons of chimeric mRNA.
Assuntos
Aromatase/genética , Ginecomastia/genética , Fenótipo , Erros Inatos do Metabolismo de Esteroides/genética , Adolescente , Adulto , Idoso , Aromatase/metabolismo , Criança , Genótipo , Ginecomastia/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Deleção de Sequência , Erros Inatos do Metabolismo de Esteroides/metabolismoRESUMO
We analyzed the gene and protein expression of serologically defined colon cancer antigen 8. Gene expression was upregulated in the maturing rat testis, and was localized to the spermatocytes. Protein was detected in the spermatids and at the sites of mRNA expression. Specific expression of colon cancer antigen 8 was observed in the maturing rat testis.
Assuntos
Autoantígenos/genética , Autoantígenos/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Espermatogênese/genética , Testículo/crescimento & desenvolvimento , Testículo/metabolismo , Animais , Masculino , Transporte Proteico , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , RatosRESUMO
This study investigated whether contrast-enhanced sonography can accurately predict the ablated area by radiofrequency ablation using virtual sonography by computed tomography as a gold standard. Thirty-one hepatocellular carcinoma nodules were treated by radiofrequency ablation and then examined. The defect of contrast-enhanced sonography (puncture direction: r=.868, P<.0001; perpendicular direction; r=.925, P<.0001) was closely correlated with the unenhanced area of virtual sonography. Contrast-enhanced sonography can be used for early and accurate prediction of the ablated area and is helpful for assessing local control of radiofrequency ablation.
Assuntos
Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/cirurgia , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/cirurgia , Polissacarídeos , Cirurgia Assistida por Computador/métodos , Ultrassonografia/métodos , Meios de Contraste , Humanos , Magnetismo , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resultado do TratamentoRESUMO
BACKGROUND: Modern genetically improved dairy cows continue to lactate throughout almost the entire pregnancy. Therefore, recent commercial cow's milk contains large amounts of estrogens and progesterone. With regard to the exposure of prepubertal children to exogenous estrogens, the authors are particularly concerned about commercial milk produced from pregnant cows. The purpose of the present study was therefore to examine concentrations of serum and urine sex hormones after the intake of cow milk. METHODS: Subjects were seven men, six prepubertal children, and five women. The men and children drank 600 mL/m(2) of cow milk. Urine samples were collected 1 h before the milk intake and four times every hour after intake. In men the serum samples were obtained before and 15, 30, 45, 60, 90 and 120 min after milk intake. Women drank 500 mL of cow's milk every night for 21 days beginning on the first day of the second menstruation. In three successive menstrual cycles, the day of ovulation was examined using an ovulation checker. RESULTS: After the intake of cow milk, serum estrone (E1) and progesterone concentrations significantly increased, and serum luteinizing hormone, follicle-stimulating hormone and testosterone significantly decreased in men. Urine concentrations of E1, estradiol, estriol and pregnanediol significantly increased in all adults and children. In four out of five women, ovulation occurred during the milk intake, and the timing of ovulation was similar among the three menstrual cycles. CONCLUSIONS: The present data on men and children indicate that estrogens in milk were absorbed, and gonadotropin secretion was suppressed, followed by a decrease in testosterone secretion. Sexual maturation of prepubertal children could be affected by the ordinary intake of cow milk.
Assuntos
Bovinos , Estrogênios/metabolismo , Leite/química , Prenhez , Animais , Criança , Estrona/metabolismo , Feminino , Hormônio Foliculoestimulante/metabolismo , Humanos , Hormônio Luteinizante/metabolismo , Masculino , Leite/efeitos adversos , Ovulação/efeitos dos fármacos , Ovulação/metabolismo , Gravidez , Progesterona/metabolismo , Maturidade Sexual/efeitos dos fármacos , Maturidade Sexual/fisiologia , Testosterona/metabolismo , Adulto JovemRESUMO
Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of osteopetrosis. The disorder is associated with dental anomalies and occasionally mental retardation. Because of the rarity and phenotypic diversity of dysosteosclerosis, it remains unsolved whether or not the disorder is heterogeneous. We report here on an affected boy associated with brain calcification and epilepsy with developmental delay. Prenatal ultrasound revealed ventriculomegaly, and brain CT in the neonatal period showed periventricular calcifications. At 13 mo of age, he presented with generalized convulsion with developmental delay. Metaphyseal sclerosis, metaphyseal undermodeling, and oval-shaped vertebral bodies on skeletal survey warranted a diagnosis of dysosteosclerosis. Retrospective review of radiographs as a neonate showed metaphyseal radiolucency, but not metaphyseal sclerosis. Since then, neither the bone changes nor neurological symptom has progressively worsened up to 4 yr of age. Thus, it is thought that the clinical and radiological manifestations of the sclerotic disorder become obvious during infancy. Brain calcification of prenatal onset may be an essential syndromic constituent of the disorder.
RESUMO
BACKGROUND AND AIM: This study evaluated the outcomes of antiviral therapy with nucleotide analogs for hepatitis B virus infection-related hepatocellular carcinoma. METHODS: Thirty patients orally received nucleotide analogs and, as a matched control group, 20 patients who were not treated with nucleotide analogs were selected. We compared changes in liver function, HCC recurrence and survival rate between both groups. RESULTS: In the nucleotide analog group, serum albumin, AST and ALT were significantly improved compared with baseline values. The Child-Pugh score was significantly decreased in the nucleotide analog group. Furthermore, of the 36 patients curatively treated with the initial treatment, more patients in the nucleotide analog group improved or maintained their Child-Pugh score at the time of recurrent HCC than in the control group (p=0.023). The cumulative recurrent-free survival rate of HCC did not significantly differ between the two groups; however, the cumulative survival rates of not only curative-treated patients but also all patients in the nucleotide analog group were significantly higher than those of patients in the control group (p=0.047 and p=0.02, respectively). CONCLUSION: The results suggest that nucleotide analog treatment increases the survival rate in patients with HCC by contributing to the improvement of remnant liver function.
Assuntos
Carcinoma Hepatocelular/tratamento farmacológico , Vírus da Hepatite B , Hepatite B/tratamento farmacológico , Neoplasias Hepáticas/tratamento farmacológico , Nucleotídeos/uso terapêutico , Idoso , Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/fisiopatologia , Feminino , Hepatite B/mortalidade , Hepatite B/fisiopatologia , Humanos , Testes de Função Hepática , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/fisiopatologia , Masculino , Pessoa de Meia-Idade , Nucleotídeos/química , Taxa de Sobrevida/tendênciasRESUMO
We analyzed the gene expression of Ha-ras suppressor family member 5 (Hrasls5), which is considered to modulate the Ha-ras signaling cascade, from maturing rat testis. Expression was detected primarily in the spermatocytes in the maturing rat testis. The Hrasls5 gene product might function as a tumor suppressor as well as in spermatogenesis, as deduced from its amino acid sequence.
Assuntos
Regulação da Expressão Gênica no Desenvolvimento , Testículo/crescimento & desenvolvimento , Testículo/metabolismo , Proteínas Supressoras de Tumor/genética , Animais , Masculino , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Ratos , Ratos Sprague-Dawley , Espermatócitos/citologia , Espermatócitos/metabolismo , Espermatogênese , Testículo/citologia , Proteínas Supressoras de Tumor/metabolismoRESUMO
We have analyzed the effects of low-dose transplacental and lactational exposure of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) on gene expression relating to the dioxin and sexual hormone cascade, and demonstrated the effects on testicular growth and sexual maturation in male offspring rats. TCDD (10 ng/kg) was administered to dams on Days 7 and 14 of gestation, and on Days 0, 7 and 14 after delivery. Gene expression of cytochrome P450 family 1 subfamily A polypeptide 1 (CYP1A1) in the liver of 17-day-old rats was significantly increased compared with controls. Furthermore, expression of estrogen receptors (ER)alpha and ERbeta was significantly increased at 17 and 42 days old, respectively in the testis of TCDD-administered rats compared with controls. Although testicular weight and the seminiferous tubule diameter were increased in 17-day-old rats, there was no difference in the number of germ cells between TCDD-treated and control animals. The expressions of androgen receptor and inhibin subunit genes were not significantly changed. These findings suggest that low-dose exposure of TCDD leads to unusual development of the testis by perturbation of steroid hormone homeostasis.
Assuntos
Regulação da Expressão Gênica/efeitos dos fármacos , Dibenzodioxinas Policloradas/toxicidade , Receptores de Estrogênio/metabolismo , Testículo/efeitos dos fármacos , Animais , Translocador Nuclear Receptor Aril Hidrocarboneto/genética , Translocador Nuclear Receptor Aril Hidrocarboneto/metabolismo , Peso Corporal , Citocromo P-450 CYP1A1/metabolismo , Feminino , Fígado/metabolismo , Masculino , Tamanho do Órgão , RNA Mensageiro/metabolismo , Ratos , Receptores Androgênicos/metabolismo , Testículo/citologiaAssuntos
Transtornos do Desenvolvimento Sexual/etiologia , Disruptores Endócrinos/efeitos adversos , Hormônios Esteroides Gonadais/efeitos adversos , Androgênios/efeitos adversos , Animais , Dietilestilbestrol/efeitos adversos , Dioxinas/efeitos adversos , Estrogênios/efeitos adversos , Feminino , Genitália Masculina/efeitos dos fármacos , Humanos , Masculino , Contagem de EspermatozoidesRESUMO
CONTEXT: Although Kallmann syndrome (KS) caused by heterozygous loss of function mutations of the fibroblast growth factor receptor 1 gene (FGFR1) is occasionally associated with characteristic features, such as dental agenesis and cleft palate, FGFR1 mutations remain unidentified in several KS patients with such characteristic features. SUBJECTS AND METHODS: We examined a 14-yr-old Japanese boy with hypogonadotropic hypogonadism, olfactory dysfunction, and dental agenesis and his fertile mother with olfactory dysfunction and dental agenesis. Direct sequencing was performed for FGFR1 using leukocyte genomic DNA from the proband and leukocyte and nail genomic DNA from the mother. To examine a possible somatic mutation, a specific forward primer was designed to introduce a BstXI site into the normal allele only, and nested PCR amplification, followed by BstXI digestion, was carried out three times with different reverse primers. RESULTS: After standard PCR amplifications, a heterozygous 2-bp deletion at exon 10 (1317_1318delTG), which is predicted to cause a frameshift at the 439th codon for serine and resultant termination at the 461st codon (S439fsX461), was identified in the proband, but was not found in the mother. After selective amplification of the mutant allele, this deletion was detected in nail DNA, but not in leukocyte DNA, from the mother. CONCLUSION: The results suggest that the 2-bp deletion took place as a somatic mutation in the mother and was transmitted to the boy because of germline mosaicism. Such a somatic mutation occurs in some apparently FGFR1 mutation-negative KS patients with dental agenesis.
Assuntos
Síndrome de Kallmann/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Adolescente , Adulto , Alelos , DNA/genética , Feminino , Mutação da Fase de Leitura , Humanos , Síndrome de Kallmann/patologia , Masculino , Mutação/fisiologia , RNA , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Maturidade Sexual/genéticaRESUMO
Measles virus was isolated from the middle ear fluid (MEF) of two infant cases of acute otitis media (AOM) associated with measles. This is the first report on the isolation of measles virus from the MEF in patients with AOM, and possibility of the measles virus as a causative agent of AOM was suggested.
Assuntos
Orelha Média/virologia , Vírus do Sarampo/isolamento & purificação , Sarampo/complicações , Otite Média/virologia , Doença Aguda , Biópsia por Agulha Fina , Feminino , Humanos , Lactente , Masculino , Sarampo/virologia , Otite Média/diagnóstico , Otite Média/terapia , Otoscopia/métodos , Membrana Timpânica/patologiaRESUMO
We have cloned a gene which is specifically expressed at the stage of sexual maturation in the rat testis by means of differential display, and have named it spermatogenesis-related factor-2 (SRF-2). Testicular expression was first detected at 5 weeks of age, and its level of the expression increased up to 7 weeks, and was maintained even at 63 weeks. Its cDNA was 2,789 bp in length and encoded an open reading frame of 718 amino acids. This gene was mainly expressed in the spermatocyte, judging from the result of in situ hybridization. The hypothetical gene product had a motif highly homologous with RabGAP/TBC protein. Taken together, this gene is considered to have some important functions for meiosis. The gene expression was significantly decreased by treatment with TCDD, a candidate endocrine disruptor, when administered to male rats of the nursling period. Body weight and testis weight were decreased by the treatment, but even then the sperm concentration in cauda epididymis was not changed significantly. SRF-2 gene may be a promising biomarker to construct a detection system of uncertain endocrine disruptors.
Assuntos
Adenosina Trifosfatases/genética , Expressão Gênica/efeitos dos fármacos , Dibenzodioxinas Policloradas/farmacologia , Adenosina Trifosfatases/metabolismo , Sequência de Aminoácidos , Animais , DNA Complementar/metabolismo , Epididimo/efeitos dos fármacos , Biblioteca Gênica , Testes Genéticos , Masculino , Dados de Sequência Molecular , Tamanho do Órgão/efeitos dos fármacos , Ratos , Ratos Sprague-Dawley , Contagem de Espermatozoides , Testículo/anatomia & histologia , Testículo/metabolismo , Fatores de Tempo , Distribuição TecidualRESUMO
BACKGROUND: Respiratory syncytial virus (RSV) is among the major causes of respiratory tract infection in infants and young children, and concomitant acute otitis media (AOM) often develops. However, there are only a few reports about AOM associated with RSV infection. METHODS: Two hundred and thirty children who were diagnosed as having RSV infection were studied by enzyme immunoassay (Testpack RSV) at the Department of Pediatrics of Tohoku Rosai Hospital from 1 November 2001 to 31 October 2002. In the patients with AOM, bacterial culture and detection of RSV antigen in the middle ear fluid (MEF) by enzyme immunoassay were performed, and the outcome was investigated. RESULTS: Among the 230 children, 120 (52.2%) were found to have AOM. In children under 2 years of age, the incidence of AOM was significantly higher (73.1%) than in the older children (29.7%). RSV antigen was positive in the MEF of 36 out of 52 patients with AOM (69.2%). In 24 of the 46 patients in whom both RSV antigen detection and bacterial culture of MEF were performed, RSV antigen was detected and bacterial culture was negative. Although the outcome of the first episode of AOM following RSV infection was favorable, relapse was observed in 31% of the patients. CONCLUSION: These results confirm that patients with RSV infection have a high risk of AOM, especially children younger than 2 years of age, and suggest that RSV may be a direct cause of AOM at least in the early stage of infection with this virus. The necessity of performing careful follow-up of AOM after resolution of symptoms is suggested because relapse is common.
Assuntos
Otite Média com Derrame/virologia , Infecções por Vírus Respiratório Sincicial/complicações , Testes de Impedância Acústica , Doença Aguda , Criança , Pré-Escolar , Infecções por Haemophilus/diagnóstico , Humanos , Técnicas Imunoenzimáticas , Lactente , Infecções por Moraxellaceae/diagnóstico , Otite Média com Derrame/microbiologia , Infecções por Vírus Respiratório Sincicial/diagnóstico , Vírus Sinciciais Respiratórios/isolamento & purificação , Infecções Estreptocócicas/diagnósticoRESUMO
We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and mutation-negative patients, with no significant difference in birth length [-0.6 +/- 2.2 sd (n = 10) vs. -0.6 +/- 1.4 sd (n = 21); P = 0.95], childhood height [-2.6 +/- 1.1 sd (n = 14) vs. -2.1 +/- 1.6 sd (n = 23); P = 0.28], or target height [-0.4 +/- 0.9 sd (n = 14) vs. -0.2 +/- 0.7 sd (n = 17); P = 0.52]; 2) pulmonary valve stenosis was more frequent in mutation-positive patients than in mutation-negative patients (10 of 18 vs. 6 of 27; P = 0.02), as was atrial septal defect (10 of 18 vs. 4 of 27; P = 0.005), whereas hypertrophic cardiomyopathy was present in five mutation-negative patients only; and 3) other features were grossly similar in the prevalence between mutation-positive and mutation-negative patients, but hematological abnormalities, such as bleeding diathesis and juvenile myelomonocytic leukemia, were exclusively present in mutation-positive patients (5 of 18 vs. 0 of 27; P = 0.007). The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. Furthermore, assessment of clinical features, in conjunction with data reported previously, implies that the type of cardiovascular lesions and the occurrence of hematological abnormalities are different in mutation-positive and mutation-negative patients, whereas the remaining findings are similar in the two groups of patients.