The Validity and Structure of Culture-Level Personality Scores: Data From Ratings of Young Adolescents

We examined properties of culture-level personality traits in ratings of targets (N=5,109) ages 12 to 17 in 24 cultures. Aggregate scores were generalizable across gender, age, and relationship groups and showed convergence with culture-level scores from previous studies of self-reports and observer ratings of adults, but they were unrelated to national character stereotypes. Trait profiles also showed cross-study agreement within most cultures, 8 of which had not previously been studied. Multidimensional scaling showed that Western and non-Western cultures clustered along a dimension related to Extraversion. A culture-level factor analysis replicated earlier findings of a broad Extraversion factor but generally resembled the factor structure found in individuals. Continued analysis of aggregate personality scores is warranted. This article is a US Government work and is in the public domain in the USA.Fil: McCrae, Robert R.. National Institute on Ageing; CanadáFil: Terracciano, Antonio. National Institute on Ageing; CanadáFil: De Fruyt, Filip. University of Ghent; BélgicaFil: De Bolle, Marleen. University of Ghent; BélgicaFil: Gelfand, Michele J.. University of Maryland; Estados UnidosFil: Costa Jr., Paul T.. National Institute on Ageing; CanadáFil: Klinkosz, Waldemar. The John Paul II Catholic University of Lublin; PoloniaFil: Knežević, Goran. Belgrade University; SerbiaFil: Leibovich de Figueroa, Nora. Universidad de Buenos Aires; ArgentinaFil: Löckenhoff, Corinna E.. Cornell University; Estados UnidosFil: Martin, Thomas A.. Susquehanna University; Estados UnidosFil: Marušić, Iris. Institute for Social Research; CroaciaFil: Mastor, Khairul Anwar. Universiti Kebangsaan Malaysia; MalasiaFil: Nakazato, Katsuharu. Iwate Prefectural University; AfganistánFil: Nansubuga, Florence. Makerere University; UgandaFil: Porrata, Jose. No especifíca;Fil: Purić, Danka. Belgrade University; SerbiaFil: Realo, aAnu. University of Tartu; EstoniaFil: Reátegui, Norma. Universidad Peruana Cayetano Heredia; PerúFil: Rolland, Jean Pierre. Universite Paris Ouest Nanterre la Defense; FranciaFil: Schmidt, Vanina Ines. Universidad de Buenos Aires. Facultad de Psicología. Instituto de Investigaciones; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Sekowski, Andrzej. The John Paul II Catholic University of Lublin; PoloniaFil: Shakespeare Finch, Jane. Queensland University of Technology; AustraliaFil: Shimonaka, Yoshiko. Bunkyo Gakuin University; JapónFil: Simonetti, Franco. Pontificia Universidad Católica de Chile; ChileFil: Siuta, Jerzy. Jagiellonian University;Fil: Szmigielska, Barbara. Jagiellonian University;Fil: Vanno, Vitanya. Srinakharinwirot University; TailandiaFil: Wang, Lei. Peking University; ChinaFil: Yik, Michelle. The Hong Kong University of Science and Technology; Hong Kon

Hematopoietic stem cell mobilization with the reversible CXCR4 receptor inhibitor plerixafor (AMD3100)—Polish compassionate use experience

Recent developments in the field of targeted therapy have led to the discovery of a new drug, plerixafor, that is a specific inhibitor of the CXCR4 receptor. Plerixafor acts in concert with granulocyte colony-stimulating factor (G-CSF) to increase the number of stem cells circulating in the peripheral blood (PB). Therefore, it has been applied in the field of hematopoietic stem cell mobilization. We analyzed retrospectively data regarding stem cell mobilization with plerixafor in a cohort of 61 patients suffering from multiple myeloma (N = 23), non-Hodgkin’s lymphoma (N = 20), or Hodgkin’s lymphoma (N = 18). At least one previous mobilization attempt had failed in 83.6% of these patients, whereas 16.4% were predicted to be poor mobilizers. The median number of CD34+ cells in the PB after the first administration of plerixafor was 22/μL (range of 0–121). In total, 85.2% of the patients proceeded to cell collection, and a median of two (range of 0–4) aphereses were performed. A minimum of 2.0 × 106 CD34+ cells per kilogram of the patient’s body weight (cells/kg b.w.) was collected from 65.6% of patients, and the median number of cells collected was 2.67 × 106 CD34+ cells/kg b.w. (0–8.0). Of the patients, 55.7% had already undergone autologous stem cell transplantation, and the median time to neutrophil and platelet reconstitution was 12 and 14 days, respectively. Cases of late graft failure were not observed. We identified the diagnosis of non-Hodgkin’s lymphoma and previous radiotherapy as independent factors that contributed to failure of mobilization. The current report demonstrates the satisfactory efficacy of plerixafor plus G-CSF for stem cell mobilization in heavily pre-treated poor or predicted poor mobilizers

Genetic drivers of kidney defects in the digeorge syndrome

BACKGROUND The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. METHODS We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice. RESULTS We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P = 4.5×1014). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-Altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. CONCLUSIONS We identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice. Results We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10(-14)). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. Conclusions We identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.)

Real-world study of children and young adults with myeloproliferative neoplasms: identifying risks and unmet needs

Myeloproliferative neoplasms (MPNs) are uncommon in children/young adults. Here, we present data on unselected patients diagnosed before 25 years of age included from 38 centers in 15 countries. Sequential patients were included. We identified 444 patients, with median follow-up 9.7 years (0-47.8). Forty-nine (11.1%) had a history of thrombosis at diagnosis, 49 new thrombotic events were recorded (1.16% patient per year [pt/y]), perihepatic vein thromboses were most frequent (47.6% venous events), and logistic regression identified JAK2V617F mutation (P = .016) and hyperviscosity symptoms (visual disturbances, dizziness, vertigo, headache) as risk factors (P = .040). New hemorrhagic events occurred in 44 patients (9.9%, 1.04% pt/y). Disease transformation occurred in 48 patients (10.9%, 1.13% pt/y), usually to myelofibrosis (7.5%) with splenomegaly as a novel risk factor for transformation in essential thrombocythemia (ET) (P= .000) in logistical regression. Eight deaths (1.8%) were recorded, 3 after allogeneic stem cell transplantation. Concerning conventional risk scores: International Prognostic Score for Essential Thrombocythemia-Thrombosis and new International Prognostic Score for Essential Thrombocythemia-Thrombosis differentiated ET patients in terms of thrombotic risk. Both scores identified high-risk patients with the same median thrombosis-free survival of 28.5 years. No contemporary scores were able to predict survival for young ET or polycythemia vera patients. Our data represents the largest real-world study of MPN patients age < 25 years at diagnosis. Rates of thrombotic events and transformation were higher than expected compared with the previous literature. Our study provides new and reliable information as a basis for prospective studies, trials, and development of harmonized international guidelines for the specific management of young patients with MPN

The assessment of water quality contaminated with arsenic based on macroinvertebrates (Złoty Stok, Lower Silesia)

W pracy dokonano oceny jakości trzech cieków w gminie Złoty Stok: Czysty Potok, Mąkolnica i Trujący Potok, które w przeszłości były znacznie skażone arsenem, pochodzącym z zanieczyszczeń związanych z działalnością dawnej kopalni złota i były przyczyną chorób mieszkańców gminy. W wyniku badań stwierdzono niewielkie przekroczenie stężenia arsenu w wodach Trującego Potoku, w pozostałych badanych wodach nie stwierdzono takich przekroczeń. Wyniki badań biologicznych sugerują jednak istotny wpływ wszystkich badanych cieków na biocenozę wodną, ponieważ wszystkie wody zostały sklasyfikowane jako słabej jakości na podstawie wskaźnika bioróżnorodności Margelafa. Z kolei indeks biotyczny BMWP-PL, który nie bierze pod uwagę liczebności osobników w poszczególnych próbkach, a przez to jest mniej dokładny pozwolił na sklasyfikowanie wód Trującego Potoku jako wód o słabej jakości ekologicznej a pozostałe dwa cieki: Czysty Potok i Mąkolnica zostały uznane za wody o umiarkowanej jakości. Zastosowane metody umożliwiają określenie stanu ekologicznego wód, a tym samym ocenę wpływu zanieczyszczeń na biocenozę wodną. W tym przypadku nie tylko obecność arsenu miała wpływ na stwierdzoną słabą jakość wszystkich wód, za taki stan rzeczy należy także winić inne działania ludzkie na tym obszarze.The quality of three water bodies: Czysty Potok, Mąkolnica and Trujący Potok was assessed in the commune Złoty Stok, which was contaminated with arsenic in the past, derived from the activity of an ancient gold mine, and caused illnesses of commune residents. In our studies, the arsenic concentrations slightly exceeded the norm values only in Trujący Potok, in the rest of the studied waters the arsenic content was very low. However, the results of biological studies based on macroinvertebrates suggest the significant influence of all examined sites on the water biocoenosis, since all waters were classified as low quality, based on the Margalef biodiversity index. The biotic index BMWP-PL which does not take the number of specimens into consideration, and because of that is less accurate, classified the waters of Trujący Potok as low ecological quality, but two remaining waters Czysty Potok and Mąkolnica were recognized as moderate waters. To summarize, the applied indices enable to determine the ecological state of waters, and hence to assess the impact of pollutants on the water biocoenosis. The presence of the arsenic was not the only factor affecting the poor quality of all waters; the human activity in this area also contributed significantly to the inferior condition of environment