Complete circumferential congenital constriction of the trunk – operation procedures and results

Constriction ring syndrome is an uncommon deformity with unknown etiology and multiple manifestations. The most common change occurs at the lower extremities. A complete circular amniotic band syndrome of the trunk is an extremely rare condition. There are less than ten other reported cases in the literature. We present a new case of this congenital abnormality, the operation procedure and the results

20% by 2020? Economy-wide impacts of energy efficiency improvement in Germany

The paper presents results of the implementation of an efficiency strategy in Germany until 2020 which is focused on cost-effective measures. The efficiency measures are calculated in bottom-up models and translated into a top-down macro-economic model. The comparison to a business as usual simulation shows some economy-wide rebound effects of about 17% of the overall energy savings. The analysis is limited to 2020. Given that an efficiency strategy is a long-term strategy, this puts the results on the rather conservative side. The results clearly show that improved energy efficiency results in a variety of positive effects on the economy and the environment. These range from reduced greenhouse gas emissions to improved competitiveness of firms and budget savings for consumers to economy wide impacts like additional employment and economic growth. Even the consideration of rebound effects did not change this picture significantly. Thus, exploiting the huge potential stemming from cost-effective efficiency measures should have high priority for the design of energy and climate policies.energy efficiency, bottom up scenario analysis, climate policy

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Background 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty. Methods We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings. Results Three patients were initially assigned a female sex and 1 was assigned a male sex. All had relevant mutations in the HSD17B3 gene. The 2 patients with deleterious mutations had lower testosterone values at the time of puberty than the patients with possible residual activity of 17β-HSD type 3. One of the latter patients changed to male gender. Conclusion All 4 patients with 17β-HSD type 3 deficiency synthesized relevant amounts (>0.7 µg/L) of testosterone at puberty, which lead to variable androgenisation. In patients with presumable residual activity of the mutated enzyme, testosterone values in the male reference range can be achieved, thereby inducing male pubertal development. These patients should possibly be assigned a male sex. Any surgical intervention should be avoided until the patients are old enough to consider their options of medical and surgical intervention.


Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

<p>Abstract</p> <p>Background</p> <p>To better understand the molecular programs of normal and abnormal genital development, clear-cut definition of androgen-dependent gene expression patterns, without the influence of genotype (46, XX vs. 46, XY), is warranted. Previously, we have identified global gene expression profiles in genital-derived fibroblasts that differ between 46, XY males and 46, XY females with complete androgen insensitivity syndrome (CAIS) due to inactivating mutations of the androgen receptor (AR). While these differences could be due to cell autonomous changes in gene expression induced by androgen programming, recent work suggests they could also be influenced by the location from which the fibroblasts were harvested (topology). To minimize the influence of topology, we compared gene expression patterns of fibroblasts derived from identical urogenital anlagen: the scrotum in normally virilized 46, XY males and the labia majora from completely feminized 46, XY individuals with CAIS.</p> <p>Results</p> <p>612 transcripts representing 440 unique genes differed significantly in expression levels between scrotum and CAIS labia majora, suggesting the effects of androgen programming. While some genes coincided with those we had identified previously (TBX3, IGFBP5, EGFR, CSPG2), a significant number did not, implying that topology had influenced gene expression in our previous experiments. Supervised clustering of gene expression data derived from a large set of fibroblast cultures from individuals with partial AIS revealed that the new, topology controlled data set better classified the specimens.</p> <p>Conclusion</p> <p>Inactivating mutations of the AR, in themselves, appear to induce lasting changes in gene expression in cultured fibroblasts, independent of topology and genotype. Genes identified are likely to be relevant candidates to decipher androgen-dependent normal and abnormal genital development.</p

The stellar and sub-stellar IMF of simple and composite populations

The current knowledge on the stellar IMF is documented. It appears to become top-heavy when the star-formation rate density surpasses about 0.1Msun/(yr pc^3) on a pc scale and it may become increasingly bottom-heavy with increasing metallicity and in increasingly massive early-type galaxies. It declines quite steeply below about 0.07Msun with brown dwarfs (BDs) and very low mass stars having their own IMF. The most massive star of mass mmax formed in an embedded cluster with stellar mass Mecl correlates strongly with Mecl being a result of gravitation-driven but resource-limited growth and fragmentation induced starvation. There is no convincing evidence whatsoever that massive stars do form in isolation. Various methods of discretising a stellar population are introduced: optimal sampling leads to a mass distribution that perfectly represents the exact form of the desired IMF and the mmax-to-Mecl relation, while random sampling results in statistical variations of the shape of the IMF. The observed mmax-to-Mecl correlation and the small spread of IMF power-law indices together suggest that optimally sampling the IMF may be the more realistic description of star formation than random sampling from a universal IMF with a constant upper mass limit. Composite populations on galaxy scales, which are formed from many pc scale star formation events, need to be described by the integrated galactic IMF. This IGIMF varies systematically from top-light to top-heavy in dependence of galaxy type and star formation rate, with dramatic implications for theories of galaxy formation and evolution.Comment: 167 pages, 37 figures, 3 tables, published in Stellar Systems and Galactic Structure, Vol.5, Springer. This revised version is consistent with the published version and includes additional references and minor additions to the text as well as a recomputed Table 1. ISBN 978-90-481-8817-

The turban pin aspiration syndrome: Awareness for a subtype of foreign body aspiration

The turban pin inhalation syndrome is known as a subtype of foreign body aspiration, mainly occurring in girls and young women wearing turbans. With the number of turban wearing girls and women increasing all over the world, attention must be brought to the risk associated with the use of hairpins. We present a case of metallic hairpin inhalation. In our case, the turban pin was successfully removed via rigid bronchoscopy

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development

Disorders of Sexual Development (DSDs) are a group of rare to very rare congenital anomalies of the genito-urinary tract of genetic and endocrine causes. Recently, an international database I-DSD was successfully implemented to register patients with DSD and to provide the basis for epidemiologic, genetic, and clinical research. This tool needs to be adjusted and supplemented with additional modules in order to better assess the anatomical basis of DSD as well as to monitor risk factors such as gonadal histology. A proposal for the additional information to be obtained is discussed. (C) 2012 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company

Pubertal development in 46,XY patients with NR5A1 mutations

PURPOSE: Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 mutations by the evaluation of longitudinal clinical and hormonal data at pubertal age. METHODS: We retrospectively studied a cohort of 10 46,XY patients with a verified NR5A1 mutation and describe clinical features including the external and internal genitalia, testicular volumes, Tanner stages and serum concentrations of LH, FSH, testosterone, AMH, and inhibin B during pubertal transition. RESULTS: Patients who first presented in early infancy due to ambiguous genitalia showed spontaneous virilization at pubertal age accompanied by a significant testosterone production despite the decreased gonadal volume. Patients with apparently female external genitalia at birth presented later in life at pubertal age either with signs of virilization and/or absence of female puberty. Testosterone levels were highly variable in this group. In all patients, gonadotropins were constantly in the upper reference range or elevated. Neither the extent of virilization at birth nor the presence of Müllerian structures reliably correlated with the degree of virilization during puberty. CONCLUSION: Patients with NR5A1 mutations regardless of phenotype at birth may demonstrate considerable virilization at puberty. Therefore, it is important to consider sex assignment carefully and avoid irreversible procedures during infancy