A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported.</p> <p>Case presentation</p> <p>A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90 mmHg) accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made.</p> <p>Conclusion</p> <p>No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.</p

An introduction to the co-creation of policy briefs with youth and academic teams

Drawing on insights from a four-day online workshop, which explored geo-engineering and policy making with 13 youth participants, an academic and youth authorial team provide a guide to the co-creation of policy briefs. Drawing on excerpts from the policy brief at different stages of development and commentary provided by the authors during the workshops, we set out four stages including (1) Identifying the key message and audience, (2) Reading and critically engaging with examples of policy briefs during the drafting process, (3) Developing the policy brief text, and (4) Reviewing and revising the policy brief. We have developed this guidance with a co-creative, group work approach in mind and suggest that this has relevance for those working in and beyond the discipline of geography

Global Landscape Review of Serotype-Specific Invasive Pneumococcal Disease Surveillance among Countries Using PCV10/13: The Pneumococcal Serotype Replacement and Distribution Estimation (PSERENADE) Project.

Serotype-specific surveillance for invasive pneumococcal disease (IPD) is essential for assessing the impact of 10- and 13-valent pneumococcal conjugate vaccines (PCV10/13). The Pneumococcal Serotype Replacement and Distribution Estimation (PSERENADE) project aimed to evaluate the global evidence to estimate the impact of PCV10/13 by age, product, schedule, and syndrome. Here we systematically characterize and summarize the global landscape of routine serotype-specific IPD surveillance in PCV10/13-using countries and describe the subset that are included in PSERENADE. Of 138 countries using PCV10/13 as of 2018, we identified 109 with IPD surveillance systems, 76 of which met PSERENADE data collection eligibility criteria. PSERENADE received data from most (n = 63, 82.9%), yielding 240,639 post-PCV10/13 introduction IPD cases. Pediatric and adult surveillance was represented from all geographic regions but was limited from lower income and high-burden countries. In PSERENADE, 18 sites evaluated PCV10, 42 PCV13, and 17 both; 17 sites used a 3 + 0 schedule, 38 used 2 + 1, 13 used 3 + 1, and 9 used mixed schedules. With such a sizeable and generally representative dataset, PSERENADE will be able to conduct robust analyses to estimate PCV impact and inform policy at national and global levels regarding adult immunization, schedule, and product choice, including for higher valency PCVs on the horizon

The FOOTPRINT software tools: pesticide risk assessment and management in the EU at different spatial scales.

Original paper can be found at: http://www.ask-eu.com/default.asp?Menue=149&AnbieterID=586 [Full text of this paper is not available in the UHRA]In the EU-project FOOTPRINT three pesticide risk assessment and management tools were developed, for use at different spatial scales. The three FOOTPRINT tools share the same underlying science, based on the consistent identification of environmental characteristics driving the fate of agriculturally applied pesticides and their interpretation to parameterise state of the art modelling applications thus providing an integrated solution to pesticide risk assessment and management in the EU

Novel estrogen-related genes and potential biomarkers of ovarian endometriosis identified by differential expression analysis.

In the search for novel biomarkers of endometriosis, we selected 152 genes from the GeneLogic database based on results of genome-wide expression analysis of ovarian endometriosis, plus 20 genes related to estrogen metabolism and action. We then performed low-density array analysis of these 172 genes on 11 ovarian endometriosis samples and 9 control endometrium samples. Principal component analysis of the gene expression levels showed clear separation between the endometriosis and control groups. We identified 78 genes as differentially expressed. Based on Ingenuity pathway analysis, these differentially expressed genes were arranged into groups according to biological function. These analyses revealed that 32 differentially expressed genes are estrogen related, 23 of which have not been reported previously in connection with endometriosis. Functional annotation showed that 25 and 22 genes are associated with the biological terms &quot;secreted&quot; and &quot;extracellular region&quot;, respectively. Differential expression of 4 out of 5 genes related to estrogen metabolism and action (ESR1, ESR2, PGR and BGN) was also confirmed by immunohistochemistry. Our study thus reveals differential expression of several genes that have not previously been associated with endometriosis and that encode potential novel biomarkers and drug targets