17 research outputs found

    Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

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    Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases. Objective: A locus on chromosome 8 has previously been linked to the disease in three families, but no underlying gene defect has to date been identified. Design: The study design comprised single-nucleotide polymorphism genotyping and mutation detection. Setting: The study was conducted at secondary and tertiary referral centers. Patients: Eighty probands from families referred for investigation of the genetic cause of FGD participated in the study. Interventions: There were no interventions. Results: Analysis by single-nucleotide polymorphism array of the genotype of one individual with FGD previously linked to chromosome 8 revealed a large region of homozygosity encompassing the steroidogenic acute regulatory protein gene, STAR. We identified homozygous STAR mutations in this patient and his affected siblings. Screening of our total FGD patient cohort revealed homozygous STAR mutations in a further nine individuals from four other families. Conclusions: Mutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. Our results demonstrate that certain mutations in STAR (R192C and the previously reported R188C) can present with a phenotype indistinguishable from that seen in FGD

    Management of multidrug resistant Gram-negative bacilli infections in solid organ transplant recipients: SET/GESITRA-SEIMC/REIPI recommendations

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    Solid organ transplant (SOT) recipients are especially at risk of developing infections by multidrug resistant (MDR) Gram-negative bacilli (GNB), as they are frequently exposed to antibiotics and the healthcare setting, and are regulary subject to invasive procedures. Nevertheless, no recommendations concerning prevention and treatment are available. A panel of experts revised the available evidence; this document summarizes their recommendations: (1) it is important to characterize the isolateÂŽs phenotypic and genotypic resistance profile; (2) overall, donor colonization should not constitute a contraindication to transplantation, although active infected kidney and lung grafts should be avoided; (3) recipient colonization is associated with an increased risk of infection, but is not a contraindication to transplantation; (4) different surgical prophylaxis regimens are not recommended for patients colonized with carbapenem-resistant GNB; (5) timely detection of carriers, contact isolation precautions, hand hygiene compliance and antibiotic control policies are important preventive measures; (6) there is not sufficient data to recommend intestinal decolonization; (7) colonized lung transplant recipients could benefit from prophylactic inhaled antibiotics, specially for Pseudomonas aeruginosa; (8) colonized SOT recipients should receive an empirical treatment which includes active antibiotics, and directed therapy should be adjusted according to susceptibility study results and the severity of the infection.J.T.S. holds a research contract from the FundaciĂłn para la FormaciĂłn e InvestigaciĂłn de los Profesionales de la Salud de Extremadura (FundeSalud), Instituto de Salud Carlos III. M.F.R. holds a clinical research contract “Juan RodĂ©s” (JR14/00036) from the Spanish Ministry of Economy and Competitiveness, Instituto de Salud Carlos III

    JOB AUTHORITY AND EMERGING RACIAL INCOME INEQUALITIES IN THE PUBLIC SECTOR

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    Has the adoption of “new governance” reforms over the last two decades eroded the public sector as a long-standing occupational niche for African Americans? Utilizing data from the General Social Survey, we address this issue in the context of earnings “returns” to three levels of job authority for African American men and women relative to their White counterparts. Findings, derived from analyses of three waves of the General Social Survey, indicate that the acceleration of this “business model” of work organization in the public sector has had relatively profound and negative consequences for African American income. Specifically, racial parity in earnings returns at all levels of authority in the “pre-reform” period (1992–1994) progressively eroded during “early reform” (2000–2002) and then even more so during the “late reform” (2010–2012) period. Much of this growing public sector disadvantage—a disadvantage that is approaching that seen in the private sector—is driven largely by income gaps between White and African American men, although a similar (though smaller) racial gap is witnessed among women. We conclude by discussing the occupational niche status of public sector work for African Americans, calling for further analyses of the growing inequality patterns identified in our analyses, and drawing attention to the implications for contemporary racial disadvantages

    Was Wright Wrong? High-Class Jobs and the Professional Earnings Advantage

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    Wright and Perrone (1977) was an outstanding empirical analysis of social stratification, a major contribution to Marxist analysis of classes in modern capitalism, and an important contribution to popular discourse and academic research on "social class" in the United States. Since 1977, however, debates with "bean counters" in sociology and "epistemological and ontological purists" within Marxism have yielded a multidimensional game-theoretic exploitation model that falls far short of Wright and Perrone (1977) on standards of social science, Marxism, commonsense, and the potential for inspiring future scholarship. Thus I propose moving away from game theory and toward Tilly's (1998) model of durable inequality, which might accommodate the dialectic of life and work. Copyright (c) 2005 by the Southwestern Social Science Association.
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