1,244 research outputs found

    Morphometry And Histology Of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism

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    Background. - Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent müllerian structures, and cryptorchidism in individuals with a 46,XY karyotype. However, the histologic criteria for the diagnosis of DMP are poorly established. Objective. - To determine gonadal histology in children with DMP. Patients and Methods. - Between 1996 and 1998, 13 patients with DMP were evaluated on our service. The clinical diagnosis of DMP was based on a 46,XY karyotype, sex ambiguity, high levels of follicle-stimulating hormone and low levels Of antimüllerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of müllerian structures. Molecular sequencing the HMGbox region of the SRY gene did not reveal any mutations. Biopsies were performed for 22 of 26 gonads (patient age at the time of biopsy, 16 months to 10 years). Conventional microscopy was used to evaluate mean tubular diameter, tubular fertility index, and number of Sertoli cells per tubular profile. Results. - All 26 gonads were located outside of the labioscrotal folds. Their histologic features varied from only a reduction in tubular size to features of a streak gonad. Five of the 22 gonads grossly resembled a streak gonad. The mean tubular diameter was severely reduced (>30% reduction relative to the normal tubular diameter for the patient's age) in 4 gonads, markedly reduced (10%-30%) in 11 gonads, slightly reduced (<10%) in one gonad, and normal in one gonad. The tubular fertililty index, expressed as the percentage of tubular profiles containing germ cells, was severely reduced (<30% of normal values) in 9 gonads, markedly reduced (50%-30%) in 2 gonads, and normal in 6 gonads. The number of Sertoli cells per tubular profile was elevated in 16 gonads and normal in one gonad. Thin tubules surrounded by fibrous tissue were occasionally observed. Conclusion. - The histologic findings confirmed the clinical diagnosis of DMP in every patient in the present series. However, gonadal histology was variable, and careful morphometric evaluation may be necessary to establish the diagnosis.1255652656Robboy, S.J., Miller, T., Donahoe, P.K., Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: Perspective derived from clinicopathologic analysis of twenty-one cases (1982) Hum Pathol, 13, pp. 700-716Troche, V., Hernandez, E., Neoplasia arising in dysgenetic gonads (1986) Obstet Gynecol Surv, 41, pp. 74-79Krasna, I.H., Lee, M.L., Smilow, P., Sciorra, L., Eierman, L., Risk of malignancy in bilateral streak gonads: The role of the Y chromosome (1992) J Pediatr Surg, 27, pp. 1376-1380Rohatgi, M., Gupta, D.K., Menon, P.S., Verma, I.C., Mathur, M., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism - A critical analysis (1992) Indian J Pediatr, 59, pp. 487-500Rey, R.A., Belville, C., Nhou-Fékété, C., Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement (1999) J Clin Endocrinol Metab, 84, pp. 627-631Stuchi-Perez, E.G., Lukas-Croisier, C., Castro, M., Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia (2000) J Pediatr Endocrinol Metab, 13, pp. 605-612Chang, H.J., Clark, R.D., Bachman, H., The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases (1990) Am J Hum Genet, 46, pp. 156-167Rajfer, J., Walsh, P.C., Mixed gonadal dysgenesis: Dysgenetic male pseudoher-maphroditism (1981) The Intersex Child: Pediatric and Adolescent Endocrinology, pp. 103-115. , Josso N, ed. Basel, Switzerland: S. KargerBorer, J.G., Nitti, V.W., Glassberg, K.I., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism (1995) J Urol, 153, pp. 1267-1273Donahoe, P.K., Crawford, J.D., Hendren, W.H., Mixed gonadal dysgenesis: Pathogenesis and management (1979) J Pediatr Surg, 14, pp. 287-300Pelletier, J., Bruening, W., Kashtan, C.E., Germline mutations in the Wilms' tumor supressor gene are associated with abnormal urogenital development in Denys-Drash syndrome (1991) Cell, 67, pp. 437-1147Carré-Éusebe, D., Imbeaud, S., Harbison, M., New, M.I., Josso, N., Picard, J.Y., Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family (1992) Hum Genet, 90, pp. 389-394Nistal, M., Paniagua, R., Non-neoplastic diseases of the testis (1996) Urologic Surgical Pathology, pp. 458-565. , Bostiwick DG, Eble JN, eds. St Louis, Mo: MosbyLennox, B., Ahmad, K.M., Mack, W.S., A method for determining the relative total length of the tubules in the testis (1970) J Pathol, 102, pp. 229-238Jimenez, R., Sanchez, A., Burgos, M., Dias De La Guardia, R.C., Puzzling out the genetics of mammalian sex determination (1996) Trends Genet, 12, pp. 164-166Müller, J., Skakkebaek, N.F., Quantification of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death (1983) Int J Androl, 6, pp. 143-156Cortes, D., Müller, J., Skakkebaek, N.E., Proliferation of Sertoli cells during development of the human testis assessed by stereological methods (1987) Int J Androl, 10, pp. 589-596Nistal, M., Abaurrea, M.A., Paniagua, R., Morphological and histometric study on the human Sertoli cell from birth to the onset of puberty (1982) J Anat, 14, pp. 351-363Van Niekerk, W.A., Retief, A.E., The gonads of human true hermaphrodites (1981) Hum Genet, 58, pp. 117-122Guerra Jr., G., De Mello, M.P., Assumpção, J.G., True hermaphrodites in the southeastern region of Brazil: A different cytogenetic and gonadal profile (1998) J Pediatr Endocrinol Metab, 11, pp. 519-524Quigley, C.A., De Bellis, A., Marschke, K.B., El-Awady, M.K., Wilson, E.M., French, F.S., Androgen receptor defects: Historical, clinical and molecular perspectives (1995) Endocr Rev, 16, pp. 271-32

    Charge and matter distributions and form factors of light, medium and heavy neutron-rich nuclei

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    Results of charge form factors calculations for several unstable neutron-rich isotopes of light, medium and heavy nuclei (He, Li, Ni, Kr, Sn) are presented and compared to those of stable isotopes in the same isotopic chain. For the lighter isotopes (He and Li) the proton and neutron densities are obtained within a microscopic large-scale shell-model, while for heavier ones Ni, Kr and Sn the densities are calculated in deformed self-consistent mean-field Skyrme HF+BCS method. We also compare proton densities to matter densities together with their rms radii and diffuseness parameter values. Whenever possible comparison of form factors, densities and rms radii with available experimental data is also performed. Calculations of form factors are carried out both in plane wave Born approximation (PWBA) and in distorted wave Born approximation (DWBA). These form factors are suggested as predictions for the future experiments on the electron-radioactive beam colliders where the effect of the neutron halo or skin on the proton distributions in exotic nuclei is planned to be studied and thereby the various theoretical models of exotic nuclei will be tested.Comment: 26 pages, 11 figures, 3 tables, accepted for publication in Phys. Rev.

    Detection Of Metabolic Syndrome Features Among Childhood Cancer Survivors: A Target To Prevent Disease

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    Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure), drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. 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    Lean Six Sigma Approach to Implement a Femur Fracture Care Pathway at “San Giovanni di Dio e Ruggi d’Aragona” University Hospital

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    Timeliness in the treatment of fracture of the femur, through surgery, is crucial in the elderly patient as it reduces the risk of mortality and disability. Here we propose a Lean Six Sigma (LSS) approach to reduce the preoperative length of stay for patients with femur fracture. Through the LSS, a tailored Diagnostic Therapeutic Assistance Path (DTAP) for these has been implemented and monitored over time. In particular, through the analysis, based on the application of the DMAIC cycle conducted on data extrapolated from the information system of the “San Giovanni di Dio e Ruggi d’Aragona” University Hospital of Salerno, the new DTAP was designed and implemented. After the introduction of the DTAP, a significant reduction in the average length of hospital stay was observed, with a preoperative length of stay within 48 h in 65% cases (compared to the previous 9%). In particular, the most significant reduction (over 55%) is obtained for patients aged over 65 years old. Such a result reflects not only the improvement in the care process but it is also compliant with the guidelines of the Italian Ministry of Health, as reported in the New Guarantee System for monitoring the quality of care. © 2021, Springer Nature Switzerland AG

    Anomalous Spreading of Power-Law Quantum Wave Packets

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    We introduce power-law tail quantum wave packets. We show that they can be seen as eigenfunctions of a Hamiltonian with a physical potential. We prove that the free evolution of these packets presents an asymptotic decay of the maximum of the wave packets which is anomalous for an interval of the characterizing power-law exponent. We also prove that the number of finite moments of the wave packets is a conserved quantity during the evolution of the wave packet in the free space.Comment: 5 pages, 3 figures, to appear in Phys. Rev. Let

    Subcritical Fluctuations at the Electroweak Phase Transition

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    We study the importance of thermal fluctuations during the electroweak phase transition. We evaluate in detail the equilibrium number density of large amplitude subcritical fluctuations and discuss the importance of phase mixing to the dynamics of the phase transition. Our results show that, for realistic Higgs masses, the phase transition can be completed by the percolation of the true vacuum, induced by the presence of subcritical fluctuations.Comment: RevTeX, 4 eps figs (uses epsf.sty), 26 pages, to be published in Phys. Rev.
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