RESUMO
Male patients with an extra sex chromosome or autosome are expected to present primary hypogonadism at puberty owing to meiotic germ-cell failure. Scarce information is available on trisomy 21, a frequent autosomal aneuploidy. Our objective was to assess whether trisomy 21 presents with pubertal-onset, germ-cell specific, primary hypogonadism in males, or whether the hypogonadism is established earlier and affects other testicular cell populations. We assessed the functional status of the pituitary-testicular axis, especially Sertoli cell function, in 117 boys with trisomy 21 (ages: 2months-20year). To compare with an adequate control population, we established reference levels for serum anti-Müllerian hormone (AMH) in 421 normal males, from birth to adulthood, using a recently developed ultrasensitive assay. In trisomy 21, AMH was lower than normal, indicating Sertoli cell dysfunction, from early infancy, independently of the existence of cryptorchidism. The overall prevalence rate of AMH below the 3rd percentile was 64.3% in infants with trisomy 21. Follicle-stimulating hormone was elevated in patients <6months and after pubertal onset. Testosterone was within the normal range, but luteinizing hormone was elevated in most patients <6months and after pubertal onset, indicating a mild Leydig cell dysfunction. We conclude that in trisomy 21, primary hypogonadism involves a combined dysfunction of Sertoli and Leydig cells, which can be observed independently of cryptorchidism soon after birth, thus prompting the search for new hypotheses to explain the pathophysiology of gonadal dysfunction in autosomal trisomy.
Assuntos
Hormônio Antimülleriano/sangue , Síndrome de Down/fisiopatologia , Hipogonadismo/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de Down/complicações , Hormônio Foliculoestimulante/sangue , Humanos , Hipogonadismo/sangue , Hipogonadismo/etiologia , Lactente , Recém-Nascido , Células Intersticiais do Testículo/fisiologia , Hormônio Luteinizante/sangue , Masculino , Tamanho do Órgão , Células de Sertoli/fisiologia , Testículo/anatomia & histologia , Testosterona/sangueRESUMO
While many studies have addressed the direct effects of 1alpha,25(OH)2D3 on breast cancer (BC) cells, stromal-epithelial interactions, which are important for the tumor development, have been largely ignored. In addition, high concentrations of the hormone, which cannot be attained in vivo, have been used. Our aim was to establish a more physiological breast cancer model, represented by BC tissue slices, which maintain epithelial-mesenchymal interactions, cultured with a relatively low 1alpha,25(OH)2D3 concentration, in order to evaluate the vitamin D pathway. Freshly excised human BC samples were sliced and cultured in complete culture media containing vehicle, 0.5 nM or 100 nM 1alpha,25(OH)2D3 for 24 h. BC slices remained viable for at least 24 h, as evaluated by preserved tissue morphology in hematoxylin and eosin (HE) stained sections and bromodeoxyuridine (BrdU) incorporation by 10% of tumor cells. VDR mRNA expression was detected in all samples and CYP24A1 mRNA expression was induced by 1alpha,25(OH)2D3 in both concentrations (but mainly with 100 nM). Our results indicate that the vitamin D signaling pathway is functional in BC slices, a model which preserves stromal-epithelial interactions and mimics in vivo conditions.
Assuntos
Neoplasias da Mama/metabolismo , Regulação Neoplásica da Expressão Gênica , Vitamina D/metabolismo , Idoso , Neoplasias da Mama/patologia , Bromodesoxiuridina/farmacologia , DNA Complementar/metabolismo , Relação Dose-Resposta a Droga , Feminino , Humanos , Pessoa de Meia-Idade , Modelos Biológicos , Análise de Sequência com Séries de Oligonucleotídeos , RNA Mensageiro/metabolismo , Esteroide Hidroxilases/biossíntese , Fatores de Tempo , Vitamina D3 24-HidroxilaseRESUMO
The Wiberg center edge angle (CEA) of 400 hip sonographies among 200 infants, 100 Italians and 100 Brazilians, aged from 15 days to 90 days, whose hip joints were considered normal, from the ultrasonographic point of view (1a and 1b) according to Graf's classification were measured. For the CEA measurements in the studied material, the authors used their own methodology developed for this purpose, which is based on basic geometric concepts and applied by one graphic computer program. In the studied material, the statistical analysis of the results obtained in the measurement of the CEA showed a better conformation of the acetabular roof complex in the Brazilian infants compared with the Italian.
Assuntos
Articulação do Quadril/anatomia & histologia , População Branca , Brasil , Feminino , Luxação Congênita de Quadril/etnologia , Articulação do Quadril/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Valores de Referência , UltrassonografiaRESUMO
This article describes the measurement of the Wiberg center edge angle in infants under 3 months using sonographic images of their hips. In the literature review, there was no reference of the application of this angle in this particular age group. Thus, a methodology has been developed based upon the fact that, at this age, the acetabular roof constitutes a large portion of hyaline cartilage. In this way, it was concluded that it was not possible to apply the original Wiberg method since the center of the femoral head can be only estimated and not accurately determined in plain radiography. For this present study, 400 hips of 200 infants were analyzed. All these hips were classified as type 1a or 1b, according to Graf. The sonographic images were transferred to a Pentium computer through a video Spigot interface. The images were analyzed by software specially developed for this purpose. Since ultrasonography allows the exact recognition of the anatomical elements of the hip joint in young children, software provided the acetabular cartilaginous roof angle that corresponds to the center edge angle in adults. The authors believe that this method will be helpful in the early detection of morphological alterations in the hip joint.
Assuntos
Quadril/anatomia & histologia , Quadril/diagnóstico por imagem , Cadáver , Feminino , Luxação Congênita de Quadril/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Recém-Nascido , Masculino , Estatísticas não Paramétricas , UltrassonografiaRESUMO
Wiberg's center-edge (CE) angle was measured in 104 patients with slipped capital femoral epiphysis (SCFE) to determine whether it correlates with a deeper acetabulum. Initially, the radiographs of 45 pre- and mild slip patients (group I) were measured using the contour of the femoral head to determine the head center (point C) as described by Wiberg's original article and, alternatively, using the acetabular line (Visser's method). In addition, the radiographs of 59 patients with moderate and severe slip (group II) were measured in both ways. The measurements were not statistically different between both methods and between the two groups. In 78 unilateral slips, the Mann-Whitney test did not show statistical differences between the normal side and the affected hip (p > 0.05). The Wiberg's CE angle of 58 patients was compared with that of a group control of the same age, gender, and race. The Wiberg's CE angle was significantly higher in patients with SCFE (p < 0.05), the same being true when comparing the white and nonwhite patients separately (p < 0.05 and p < 0.05, respectively). Theories involving biomechanical stress in the adolescent hip can explain the majority of slips occurring in an otherwise healthy child. The femoral head with a better coverage yields more shearing stress across the epiphyseal line. This, associated with hormonal disorders, trauma, or another deleterious factor, can progress to its failure.