Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal. Copyright © 2005 John Wiley & Sons, Ltd.     

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.     

From conference abstract to publication in the conservation science literature

Every 2 years, the conservation community comes together at The Society for Conservation Biology's International Congress for Conservation Biology (ICCB) to share new developments in conservation science and practice. Publication of findings presented at conferences in scientific journals adds to the permanent record and helps increase the potential impact of the work presented. However, quantitative research on publication rates for meetings relevant to conservation is lacking. For the 25th ICCB, (Auckland, New Zealand in 2011), we examined study publication rates and presenter demographics, recorded titles, number of authors, presenter affiliations, gender, country of the study region, publication status, and elapsed time between presentation and publication. Of the 980 contributions (782 talks and 198 posters), 587 (60%) were published as peer-reviewed journal articles or book chapters. Mean time to publication was 13.7 months for all presentation abstracts and 21.3 months excluding abstracts with corresponding articles that were published before the meeting. The gender breakdown of presenters was almost even (53% male, 47% female), but representation of the countries where the presenting authors were based was skewed. The political units with the most contributions were by far the United States, Australia, New Zealand, and the United Kingdom. Presenters based in 16 different English-speaking countries made up 74% of the total sample, but this did not influence the likelihood of their abstract leading to a publication. Examination of conference presenters and publication of their presentations is useful to identify biases and potential challenges that need to be addressed to make conference communications permanent and increase their reach beyond conference attendees.     

A comparative analysis of the photobiology of zooxanthellae and zoochlorellae symbiotic with the temperate clonal anemone <Emphasis Type="Italic">Anthopleura elegantissima</Emphasis> (Brandt). III. Seasonal effects of natural light and temperature on photosynthesis and respiration

The sea anemone Anthopleura elegantissima hosts two phylogenetically different symbiotic microalgae, a dinoflagellate Symbiodinium (zooxanthellae, ZX) and a chlorophyte (zoochlorellae, ZC). The photosynthetic productivity (P), respiration (R), and contribution of algal carbon translocated to the host (CZAR) in response to a year’s seasonal ambient changes of natural light and temperature are documented for both ZX- and ZC-bearing anemones. Light and temperature both affect photosynthesis, respiration, and CZAR, as well as various algal parameters; while there are evident seasonal differences, for the most part the relative effects on P, R, and CZAR by the two environmental variables cannot be determined. Net photosynthesis (P_n) of both ZX and ZC was significantly higher during spring and summer. During these seasons, the P_n of ZX was always greater than that of ZC. Regardless of algal symbiont, anemone respiration (R) was significantly higher during the spring and summer. The annual net carbon fixation rate of anemones with ZX and ZC was 325 and 276 mg C anemone⁻¹ year⁻¹, respectively, which translates to annual net community productivity rates of 92 and 60 g C m⁻¹ year⁻¹ for anemones with ZX or ZC, respectively. CZAR did not show a clear relationship with season; however the CZAR for ZX was always significantly greater than for ZC. Lower ZX growth rates, coupled with higher photosynthetic rates and higher CZAR estimates, compared to ZC, suggest that if A. elegantissima is simply carbon limited, ZX-bearing anemones should be the dominant symbiont in the field. However ZC-bearing anemones persist in low light and reduced temperature microhabitats, therefore more than the translocation of carbon from ZC must be involved. Given that global climate change will increase water temperatures, the potential for latitudinal range shifts of both ZC and ZX (S. californium and muscatinei) might be used as biological indicators of thermal shifts in the littoral zone of the Pacific Northwest.     

Dimethylcarbonate for eco-friendly methylation reactions

Dimethylcarbonate (DMC), an environmentally friendly substitute for dimethylsulfate and methyl halides in methylation reactions, is a very selective reagent. Both under gas-liquid phase transfer catalysis (GL-PTC) and under batch conditions, with potassium carbonate as the catalyst, the reactions of DMC with methylene-active compounds (arylacetonitriles and arylacetoesters, aroxyacetonitriles and methyl aroxyacetates, benzylaryl- and alkylarylsulphones) produce monomethylated derivatives, with a selectivity not previously observed (i.e., >99%). The highly selective O-methylation of phenols and p-cresols by DMC is also attained by a new methodology using a continuous fed stirred tank reactor (CSTR) filled with a catalytic bed of polyethyleneglycol (PEG) and potassium carbonate.     

Chromosome analysis of multipronuclear human oocytes after in vitro fertilization

Multipronuclear human eggs are frequent after in vitro fertilization. Their chromosome analysis can provide useful information. Before cleavage it can confirm the suspected poly-ploidy. Among the cleaved multipronuclear eggs it provides an estimation of the incidence of the possible return to diploidy. Ninety-four multipronuclear eggs were fixed at the first, second, or third cleavage according to the air-drying method of Tarkowski with or without colchicine exposure: 60 were successfully analysed. Twelve were stopped before cleavage (six without colchicine treatment and six with colchicine treatment). They were polyploid, confirming the cytological observation. Forty-eight eggs cleaved and were stopped by colchicine treatment and karyotyped. Seventeen eggs (35 per cent) had produced diploid embryos. Mosaicism was frequent (15 cases, 31 per cent). Triploidy was not frequent (8 eggs, 17 per cent). Haploidy constituted the remaining cases (8 eggs, 17 per cent). Our data indicate that the initial count of pronuclei is a reliable test. Multipronuclear one-cell oocytes were confirmed to be polyploid. Furthermore, the developmental capacity of the multipronuclear oocytes is variable. Most of them cleaved. However, many multipronuclear oocytes led to diploid cleaving eggs.     

Gastroenteric Viruses Detection in a Drinking Water Distribution-to-Consumption System in a Low-Income Community in Rio de Janeiro

Food and Environmental Virology - The availability of drinking water is one of the main determinants of quality of life, disease prevention and the promotion of health. Viruses are important agents...