RESUMO
Background: The presence of extraintestinal manifestations may be associated with the development of pouchitis in patients with ulcerative colitis after ileal pouch-anal anastomosis. The aim of this study was to assess this correlation. Methods: A systematic literature search was performed using MEDLINE and the Cochrane Library. Studies published in English up to 22 May 2017 investigating the association between extraintestinal manifestations and development of pouchitis in adults with ulcerative colitis were included. Case reports were excluded. The association of extraintestinal manifestations with the development of overall and chronic pouchitis was investigated using a random-effects model. Results: Of 1010 citations identified, 22 observational studies comprising 5128 patients were selected for analysis. The presence of extraintestinal manifestations was significantly associated with both chronic pouchitis (odds ratio 2·28, 95 per cent c.i. 1·57 to 3·32; P = 0·001) and overall pouchitis (odds ratio 1·96, 1·49 to 2·57; P < 0·001). Conclusion: The presence of extraintestinal manifestations is associated with development of pouchitis after ileal pouch-anal anastomosis.
Assuntos
Colite Ulcerativa/cirurgia , Complicações Pós-Operatórias , Pouchite , Proctocolectomia Restauradora , Colangite Esclerosante , Humanos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Pouchite/epidemiologia , Pouchite/etiologia , Proctocolectomia Restauradora/efeitos adversos , Proctocolectomia Restauradora/estatística & dados numéricos , Fatores de RiscoRESUMO
We propose that novel oxide superlattice structures of crystalline TiO(2)/ZnO on sapphire substrates can be used for multilayer mirrors with high reflectivity at 2.734 nm. In the experimental study, both rutile TiO(2)(200) and wurtzite ZnO(001) thin films were grown epitaxially on the same sapphire (001) substrate by atomic layer epitaxy (ALE) at 450 °C. We also demonstrated that the novel oxide superlattice structure of 10-bilayer TiO(2)/ZnO on a sapphire substrate gave a high reflectivity of 29.4% at 2.74 nm.
Assuntos
Cristalização/métodos , Lentes , Nanoestruturas/química , Nanoestruturas/ultraestrutura , Titânio/química , Óxido de Zinco/química , Desenho de Equipamento , Teste de Materiais , Propriedades de SuperfícieAssuntos
Síndrome Hemolítico-Urêmica/terapia , Criança , Terapia Combinada , Citocinas/sangue , Diarreia/microbiologia , Glucocorticoides/uso terapêutico , Hemodiafiltração , Síndrome Hemolítico-Urêmica/sangue , Síndrome Hemolítico-Urêmica/microbiologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Metilprednisolona/uso terapêuticoRESUMO
The activating transcription factor, ATF-2, is a target of p38 and JNK that are involved in stress-induced apoptosis. Heterozygous Atf-2 mutant (Atf-2+/-) mice are highly prone to mammary tumors. The apoptosis-regulated gene GADD45alpha and the breast cancer suppressor gene Maspin, both of which are known to be p53 target genes, are downregulated in the mammary tumors arisen in Atf-2+/- mice. Here, we have analysed how ATF-2 controls the transcription of GADD45alpha and Maspin. ATF-2 and p53 independently activate the GADD45alpha transcription. ATF-2 does not directly bind to the GADD45alpha promoter; instead, it is recruited via Oct-1 and NF-I. ATF-2 simultaneously binds to Oct-1, NF-I and breast cancer suppressor BRCA1 to activate transcription. With regard to Maspin, ATF-2 and p53 directly bind to different sites in the Maspin promoter to independently activate its transcription. Consistent with the observation that ATF-2 and p53 independently activate the transcription of Maspin and GADD45alpha is that the loss of one copy of p53 shortened the period required for mammary tumor development in Atf-2+/- mice. These studies suggest the functional link between the ATF-2 and the two tumor suppressors BRCA1 and p53.
Assuntos
Fator 2 Ativador da Transcrição/fisiologia , Proteínas de Ciclo Celular/genética , Regulação Neoplásica da Expressão Gênica/fisiologia , Neoplasias Mamárias Experimentais/genética , Neoplasias Mamárias Experimentais/prevenção & controle , Proteínas Nucleares/genética , Serpinas/genética , Proteína Supressora de Tumor p53/fisiologia , Fator 2 Ativador da Transcrição/deficiência , Fator 2 Ativador da Transcrição/genética , Animais , Proteína BRCA1/fisiologia , Proteínas de Ciclo Celular/biossíntese , Linhagem Celular , Linhagem Celular Tumoral , Feminino , Genes Supressores de Tumor/fisiologia , Humanos , Masculino , Neoplasias Mamárias Experimentais/enzimologia , Neoplasias Mamárias Experimentais/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos CBA , Camundongos Knockout , Camundongos Mutantes , Proteínas Nucleares/biossíntese , Serpinas/biossínteseRESUMO
An increasing number of long-term surviving bone marrow transplantation (BMT) recipients have recovered from their primary disease but are at risk of developing failure of endocrine organs. We investigated 30 recipients who underwent allogeneic BMT during childhood or adolescence. Testicular growth and function were evaluated by serial measurement of testicular volume, basal luteinizing hormone (LH), basal follicle-stimulating hormone (FSH) and testosterone levels and by gonadotropin-releasing hormone (GnRH) provocative test. Puberty started spontaneously in all patients. However, all except four patients had normal testosterone levels with elevated LH, indicating partial Leydig cell dysfunction. Standard deviation scores of testicular volume at last evaluation were statistically lower in those who had received irradiation without gonadal shield compared to those with (-2.04+/-0.45 vs -0.30+/-1.17, respectively, P<0.005), suggesting damage of testicular germinal epithelium owing to gonadal irradiation. Serial measurement of testicular volume showed a tendency of growth to stop at 10 ml in those without gonadal shield. Among the 30 patients, only one patient has fathered a child after reaching spontaneous puberty. These results suggest that gonadal shield is effective to protect testicular growth and function, although the attainment of fertility is difficult to achieve.
Assuntos
Transplante de Medula Óssea , Testículo/fisiologia , Irradiação Corporal Total/efeitos adversos , Adolescente , Adulto , Anemia Aplástica/terapia , Biópsia , Criança , Hormônio Foliculoestimulante/sangue , Humanos , Leucemia/terapia , Células Intersticiais do Testículo/patologia , Hormônio Luteinizante/sangue , Linfoma não Hodgkin/terapia , Masculino , Puberdade , Sobreviventes , Doenças Testiculares/etiologia , Testículo/crescimento & desenvolvimento , Testículo/patologia , Testosterona/sangue , Transplante HomólogoRESUMO
Using a cell culture method, we histochemically and immunohistochemically investigated whether chondrocytes deriving from different origins, such as Meckel's or costal cartilages, express similar phenotypic characteristics. Chondrocytes isolated enzymatically from Meckel's and costal cartilages of 17-day embryonic mice both actively proliferated and formed cartilage nodules consisting of toluidine blue-positive proteoglycans and type II collagen. Both deposited calcified cartilaginous matrix as revealed by alkaline phosphatase (ALPase) activity and alizarin red staining throughout 3 weeks in culture. Immunostaining for osteopontin (OP), osteocalcin (OC), and osteonectin (ON) revealed that chondrocytes from both cartilages were positive for their proteins, but type I collagen was detected only in cells transforming from Meckel's chondrocytes late in the culture. Electron microscopy demonstrated that although costal and Meckel's chondrocytes had typical chondrocytic features during 2 weeks in culture, Meckel's chondrocytes transformed into osteocytic cells that produced thick, banded type I collagen fibrils. In contrast, costal chondrocytes maintained typical hypertrophic morphology throughout the final stage of culture. The present study suggests that Meckel's chondrocytes derived from neural crest-ectomesenchyme retain osteogenic potential, and differ from costal chondrocytes originating from mesoderm.
Assuntos
Cartilagem/citologia , Condrócitos/citologia , Fosfatase Alcalina/metabolismo , Animais , Cartilagem/embriologia , Colágeno/metabolismo , Corantes , Embrião de Mamíferos , Histocitoquímica , Imuno-Histoquímica , Camundongos , Camundongos Endogâmicos , Osteonectina/metabolismo , Osteopontina , Costelas/citologia , Costelas/embriologia , Sialoglicoproteínas/metabolismoRESUMO
The aim of this study was to evaluate the relationship between the vascular resistance in uterine arteries and the maternal release of adenosine and endothelin-1 in twin gestations with and without preeclampsia. Uterine artery Doppler velocimetry and maternal arterial blood sampling were performed in 14 women with normal singleton gestation, nine women with singleton gestation with preeclampsia, eight women with dichorionic twin gestation without preeclampsia and six women with dichorionic twin gestation with preeclampsia at 28-34 weeks' gestation. In normal singleton gestations, the average maternal uterine arteries pulsatility index (PI), plasma adenosine and endothelin-1 levels were 0.64+/-0.07, 0.34+/-0.11 micromol/l and 1.29+/-0.31 pg/ml, respectively. In preeclamptic singleton gestations, increased vascular resistance in the uterine arteries (PI: 0.85+/-0.14, P<0.05) and the elevation of maternal arterial plasma adenosine (0.48+/-0.14 micromol/l, P<0.05) and endothelin-1 levels (1.91+/-0.55 pg/ml, P<0.05) were observed. In the normal twin gestation group, the average maternal vascular resistance of the uterine arteries (PI: 0.55+/-0.09) was lower than that in the normal singleton gestation group, while the average plasma adenosine levels (0.47+/-0.12 micromol/l) were higher than that in normal singleton gestation. On the other hand, significant increased plasma endothelin-1 concentrations (1.87+/-0.42 pg/ml) were observed in the preeclamptic twin gestation groups without changes in plasma adenosine levels or vascular resistance of uterine arteries. Our results indicate the presence of different mechanisms for the pathogenesis of preeclampsia between twin and singleton gestations.
Assuntos
Adenosina/sangue , Endotelina-1/sangue , Pré-Eclâmpsia/sangue , Gravidez Múltipla/sangue , Gêmeos , Adulto , Artérias/fisiopatologia , Feminino , Humanos , Pré-Eclâmpsia/fisiopatologia , Gravidez , Valores de Referência , Útero/irrigação sanguínea , Resistência VascularRESUMO
DNA methylation is essential for development in the mouse and plays an important role in inactivation of the X chromosome and genomic imprinting. MeCP2 is the founder member of a family of methyl-CpG-binding proteins. MeCP2 directly binds to the co-repressor mSin3, which interacts with class I histone deacetylase, recruiting them to methyl-CpG regions to suppress transcription. Here, we report that MeCP2 directly binds to two co-repressors, c-Ski and N-CoR, in addition to mSin3A, and that the c-Ski, which is encoded by the c-ski proto-onocogene, is required for MeCP2-mediated transcriptional repression. The two regions of c-Ski, including the C-terminal coiled-coil region, interact with the transcriptional repression domain in the center of the MeCP2 molecule. The immunostaining signals for c-Ski and MeCP2 overlap in the nuclear heterochromatin region, suggesting the co-localization of the two proteins. The degree of transcriptional repression mediated by a Gal4-MeCP2 fusion protein was abrogated by overexpression of the putative dominant negative form of c-Ski. Furthermore, injection of antibodies against c-Ski and Sno almost completely abolished the transcriptional repression mediated by the Gal4-MeCP2 fusion protein. These results suggest that the ski gene family is involved in methyl CpG-mediated transcriptional repression.
Assuntos
Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/química , Proteínas de Ligação a DNA/metabolismo , Regulação da Expressão Gênica , Proteínas Proto-Oncogênicas/química , Proteínas Repressoras , Transcrição Gênica , Western Blotting , Linhagem Celular , Núcleo Celular/metabolismo , Ilhas de CpG , Metilação de DNA , DNA Complementar/metabolismo , Genes Dominantes , Glutationa Transferase/metabolismo , Heterocromatina/química , Humanos , Proteína 2 de Ligação a Metil-CpG , Família Multigênica , Testes de Precipitina , Ligação Proteica , Estrutura Terciária de Proteína , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Recombinantes de Fusão/químicaRESUMO
The mu-eta(3)-allenyl/propargyldipalladium complexes were synthesized by the reaction of the corresponding eta(1)-allenyl- or eta(1)-propargylpalladium complexes with Pd(2)(dba)(3). The X-ray diffraction analysis indicates that the dinuclear complex has a unique structure, in which two palladium, three carbon, two phosphorus, and one halogen atoms are in the same plane. These dinuclear complexes react with electrophiles, such as HCl or AcCl, at the central carbon of the mu-eta(3)-allenyl/propargyl ligand to give the mu-eta(3)-vinylcarbenedipalladium complexes. Intramolecular reaction proceeded smoothly to give cyclization products quantitatively. Addition of a catalytic amount of a palladium(0) complex dramatically accelerated the carbon-carbon bond formation. The MO calculations on the mu-eta(3)-allenyl/propargyl complexes indicated that the reaction proceeds via orbital control.
RESUMO
Growth hormone (GH) deficiency has been regarded as a principal determinant for growth failure following bone marrow transplantation (BMT). We herein analyzed final height and GH secretion in the patients who received BMT during childhood. The study on final height in 30 patients (23 males; 19 with malignant disease) who underwent BMT before or at the onset of puberty showed the following findings: (1) Final height SD score (SDS) significantly decreased compared to pretreatment height SDS. (2) Patients who underwent BMT before the age of 10 years showed significantly greater reduction in height SDS compared to those who received after the age of 10 years. (3) The type of disease or a difference in preconditioning regimen did not influence the outcome of growth. (4) No patient showed GH deficiency. The study on GH secretion included 71 patients who had been followed for more than 5 years and who underwent insulin tolerance test more than twice following BMT. Thirteen patients experienced poor GH response at least once. Two of these patients had poor GH response repeatedly. In conclusion, children who undergo BMT at younger age have a higher risk of growth failure, and GH deficiency is not a major contributing factor for growth impairment following BMT.
Assuntos
Estatura , Transplante de Medula Óssea/efeitos adversos , Transtornos do Crescimento/etiologia , Hormônio do Crescimento Humano/metabolismo , Adolescente , Fatores Etários , Anemia Aplástica/terapia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/epidemiologia , Hormônio do Crescimento Humano/deficiência , Humanos , Insulina , Fator de Crescimento Insulin-Like I/análise , Leucemia/terapia , Linfoma não Hodgkin/terapia , Masculino , Fatores de RiscoRESUMO
Fusion of the promyelocytic leukemia (PML) protein to the retinoic acid receptor-alpha (RARalpha) generates the transforming protein of acute promyelocytic leukemias. PML appears to be involved in multiple functions, including apoptosis and transcriptional activation by RAR, whereas PML-RARalpha blocks these functions of PML. However, the mechanisms of leukemogenesis by PML-RARalpha remain elusive. Here we show that PML interacts with multiple corepressors (c-Ski, N-CoR, and mSin3A) and histone deacetylase 1, and that this interaction is required for transcriptional repression mediated by the tumor suppressor Mad. PML-RARalpha has the two corepressor-interacting sites and inhibits Mad-mediated repression, suggesting that aberrant binding of PML-RARalpha to the corepressor complexes may lead to abrogation of the corepressor function. These mechanisms may contribute to events leading to leukemogenesis.
Assuntos
Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Receptores do Ácido Retinoico/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Ativação Transcricional/fisiologia , Animais , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Regulação Leucêmica da Expressão Gênica , Histona Desacetilase 1 , Histona Desacetilases/genética , Histona Desacetilases/metabolismo , Humanos , Óperon Lac , Leucemia Promielocítica Aguda , Luciferases , Mamíferos , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Correpressor 1 de Receptor Nuclear , Proteína da Leucemia Promielocítica , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Receptor alfa de Ácido Retinoico , Complexo Correpressor Histona Desacetilase e Sin3 , Células Tumorais Cultivadas , Proteínas Supressoras de TumorRESUMO
A 7-year-old boy with moyamoya disease developed sustained hypertension, nephrotic syndrome, hyperreninemia, and occlusion of the right renal artery. After right nephrectomy, hyperreninemia and hypertension improved. Proteinuria was resolved after nephrectomy, in parallel with the decrease in plasma renin activity. Moyamoya disease can cause nephrotic-range proteinuria, which is caused hemodynamically by hyperreninemia.
Assuntos
Doença de Moyamoya/complicações , Síndrome Nefrótica/etiologia , Obstrução da Artéria Renal/etiologia , Criança , Humanos , Masculino , Doença de Moyamoya/diagnóstico , Nefrectomia , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/cirurgia , Obstrução da Artéria Renal/diagnóstico , Obstrução da Artéria Renal/cirurgiaRESUMO
The c-ski proto-oncogene product (c-Ski) acts as a co-repressor and binds to other co-repressors N-CoR/SMRT and mSin3A which form a complex with histone deacetylase (HDAC). c-Ski mediates the transcriptional repression by a number of repressors, including nuclear hormone receptors and Mad. c-Ski also directly binds to, and recruits the HDAC complex to Smads, leading to inhibition of tumor growth factor-beta (TGF-beta) signaling. This is consistent with the function of ski as an oncogene. Here we show that loss of one copy of c-ski increases susceptibility to tumorigenesis in mice. When challenged with a chemical carcinogen, c-ski heterozygous mice showed an increased level of tumor formation relative to wild-type mice. In addition, c-ski-deficient mouse embryonic fibroblasts (MEFs) had increased proliferative capacity, whereas overexpression of c-Ski suppressed the proliferation. Furthermore, the introduction of activated Ki-ras into c-ski-deficient MEFs resulted in neoplastic transformation. These findings demonstrate that c-ski acts as a tumor suppressor in some types of cells. The level of cdc25A mRNA, which is down regulated by two tumor suppressor gene products, Rb and Mad, was upregulated in c-ski-deficient MEFs, whereas it decreased by overexpressing c-Ski in MEFs. This is consistent with the fact that c-Ski acts as a co-repressor of Mad and Rb. These results support the view that the decreased activities of Mad and Rb in ski-deficient cells at least partly contribute to enhanced proliferation and susceptibility to tumorigenesis. Human c-ski gene was mapped to a region close to the p73 tumor suppressor gene at the 1p36.3 locus, which is already known to contain multiple uncharacterized tumor suppressor genes.
Assuntos
Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/fisiologia , Neoplasias/etiologia , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/fisiologia , Proteínas Supressoras de Tumor/fisiologia , Animais , Divisão Celular , Células Cultivadas , Suscetibilidade a Doenças , Feminino , Fibroblastos/metabolismo , Deleção de Genes , Genes Supressores de Tumor , Heterozigoto , Cinética , Masculino , Camundongos , Neoplasias/patologia , Proto-Oncogene Mas , RNA Mensageiro/biossíntese , Mapeamento de Híbridos Radioativos , Proteínas Supressoras de Tumor/genética , Fosfatases cdc25/biossíntese , Fosfatases cdc25/genéticaAssuntos
Carbapenêmicos , Animais , Bactérias/efeitos dos fármacos , Carbapenêmicos/farmacocinética , Carbapenêmicos/farmacologia , Ensaios Clínicos como Assunto , Resistência Microbiana a Medicamentos , Humanos , Pseudomonas aeruginosa/efeitos dos fármacos , Infecções Respiratórias/tratamento farmacológico , Streptococcus pneumoniae/efeitos dos fármacos , Resultado do Tratamento , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/microbiologiaRESUMO
BACKGROUND: Small bowel obstruction in early pregnancy increases maternal and fetal morbidity and mortality and might be diagnosed mistakenly as hyperemesis gravidrum. Prompt diagnosis and therapy is essential. CASE: A 29-year-old primigravida was admitted at 13 weeks' gestation with small bowel obstruction. After jejunotomy, total parenteral nutrition was given until oral intake was resumed completely 1 month after surgery. She was discharged with no complications and the rest of her pregnancy and delivery were uneventful. CONCLUSION: Small bowel obstruction in early pregnancy should be diagnosed expeditiously and can be treated with jejunotomy and total parenteral nutrition.
Assuntos
Doenças do Íleo/terapia , Obstrução Intestinal/terapia , Jejuno/cirurgia , Nutrição Parenteral Total , Complicações na Gravidez/terapia , Adulto , Feminino , Humanos , Doenças do Íleo/etiologia , Doenças do Íleo/cirurgia , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Complicações na Gravidez/cirurgiaRESUMO
The Ski and Sno oncoproteins are components of a macromolecular complex containing the co-repressor N-CoR/SMRT, mSin3 and histone deacetylase. This complex has been implicated in the transcriptional repression exerted by a number of repressors including nuclear hormone receptors and Mad. Further more, Ski and Sno negatively regulate transforming growth factor-beta (TGF-beta) signaling by recruiting this complex to Smads. Here we show that loss of one copy of sno increases susceptibility to tumorigenesis in mice. Mice lacking sno died at an early stage of embryogenesis, and sno was required for blastocyst formation. Heterozygous (sno(+/-)) mice developed spontaneous lymphomas at a low frequency and showed an increased level of tumor formation relative to wild-type mice when challenged with a chemical carcinogen. sno(+/-) embryonic fibroblasts had an increased proliferative capacity and the introduction of activated Ki-ras into these cells resulted in neoplastic transformation. The B cells, T cells and embryonic fibroblasts of sno(+/-) mice had a decreased sensitivity to apoptosis or cell cycle arrest. These findings demonstrate that sno acts as a tumor suppressor at least in some types of cells.
Assuntos
Proteínas de Ligação a DNA/genética , Histona Desacetilases/genética , Neoplasias Experimentais/genética , Proteínas Proto-Oncogênicas/genética , Animais , Proteínas de Ligação a DNA/metabolismo , Regulação Neoplásica da Expressão Gênica , Predisposição Genética para Doença , Histona Desacetilases/metabolismo , Camundongos , Proteínas Proto-Oncogênicas/deficiência , Proteínas Proto-Oncogênicas/metabolismo , Transdução de Sinais , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismoRESUMO
OBJECTIVE: Although ovarian cysts commonly occur in patients with congenital lipoid adrenal hyperplasia (CLAH), the mechanism of development remains to be determined. To clarify the pathogenesis of the ovarian cysts, endocrinological examinations were performed in patients with CLAH. METHODS: The subjects were three Japanese CLAH patients. Basal body temperature, serum and urinary gonadotropin levels, serum and/or urinary ovarian hormones and mutations of the steroidogenic acute regulatory protein (StAR) gene were examined. RESULTS: The basal body temperature was not biphasic in any patient. Basal LH levels were high in all CLAH patients and markedly responded to LH-releasing hormone in two patients. Urinary gonadotropin analysis revealed repetitive LH surges in the menstrual cycles of the CLAH patients. No increase in the urinary pregnanediol suggested anovulation in all patients, and bilateral ovarian cysts were found in two of the subjects. Examination of the StAR gene revealed a frameshift mutation 840delA at codon 238, a nonsense mutation Q258X at codon 258, a homozygotic mutation at Q258X, and a compound heterozygotic mutation with 251insG and Q258X. CONCLUSIONS: We concluded that the development of ovarian cysts may be derived from continued anovulation in CLAH patients. Elevated LH levels may be explained by increased sensitivity of the anterior pituitary to circulating estrogen.
Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Hormônios Esteroides Gonadais/sangue , Hormônios Esteroides Gonadais/urina , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/urina , Diagnóstico Diferencial , Dinoprostona/sangue , Dinoprostona/urina , Feminino , Hormônio Foliculoestimulante/sangue , Hormônio Foliculoestimulante/urina , Humanos , Lactente , Recém-Nascido , Hormônio Luteinizante/sangue , Hormônio Luteinizante/urina , Cistos Ovarianos/sangue , Cistos Ovarianos/urina , Pregnanodiol/sangue , Pregnanodiol/urina , Puberdade/sangue , Puberdade/urinaRESUMO
Familial male-limited precocious puberty (FMPP) is a rare disease caused by constitutively activating mutations in the luteinizing hormone receptor (LH-R) gene. In the present study, we analyzed the LH-R gene in members of a Japanese FMPP family. Two males of the family were affected and had a heterozygous M398T mutation; one patient developed pubertal signs as early as 2 years of age, and the other at 6 years of age. Both patients had elevated serum testosterone levels and prepubertal gonadotropin secretions. The father of the latter patient carried the M398T mutation, but lacked history of precocious puberty. Thus, phenotypic differences were observed in the three males with the same LH-R mutation belonging to the same family. In summary, we have described a Japanese family with FMPP.
Assuntos
Mutação de Sentido Incorreto , Puberdade Precoce/genética , Receptores do LH/genética , Pré-Escolar , Enzimas de Restrição do DNA , Feminino , Hormônio Foliculoestimulante/sangue , Hormônio Liberador de Gonadotropina , Heterozigoto , Humanos , Japão , Hormônio Luteinizante/sangue , Masculino , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Testosterona/sangueRESUMO
PURPOSE: We have reported that in the thyroid, there is a linear correlation between iodine concentrations and CT values. However, the slope of the regression line was about three times as large as that in KI solutions. We investigated the factor(s) contributing to the increment of the slope of the regression line in the thyroid. METHOD: Solutions of NH4I and thyroid hormones were used to investigate the regression line. Thirty-six thyroids were evaluated to investigate the correlation between the iodine concentrations and the area ratio of thyroid follicles, which were measured by preoperative CT and from tissue slices, respectively. RESULTS: The slopes of the regression lines in the solutions were almost identical to those in KI solutions. In the thyroid, iodine concentrations were logarithmically correlated with the area ratio of follicles. CONCLUSION: The decrease in CT values not only revealed a decrease of iodine concentration in the thyroid but also represented an increase of follicular cells and/or interstitial structures in the volume ratio secondary to it.