A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

Iniencephaly is not uniformly fatal

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.     

Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

Microbial response to CaCO3 application in an acid soil in southern China

Calcium carbonate (CaCO₃) application is widely used to ameliorate soil acidification. To counteract soil and bacterial community response to CaCO₃ application in an acidic paddy soil in southern China, a field experiment was conducted with four different dosages of CaCO₃ addition, 0, 2.25, 4.5 and 7.5?tons/ha, respectively. After one seasonal growth of rice, soil physicochemical properties, soil respiration and bacterial communities were investigated. Results showed that soil pH increased accordingly with increasing dose of CaCO₃ addition, and 7.5?tons/ha addition increased soil pH to neutral condition. Moderate dose of CaCO₃ application (4.5?tons/ha) significantly increased soil dissolved organic carbon (DOC) and dissolved organic nitrogen (DON) content, enhanced soil respiration, while the excessive CaCO₃ application (7.5?tons/ha) decreased these soil properties. High-throughput sequencing results illustrated that moderate dose of CaCO₃ application increased the richness and alpha diversity of soil bacterial community. Compared with control, the relative abundance of Anaerolineaceae family belonging to Chloroflexi phylum increased by 38.7%, 35.4% and 24.5% under 2.25, 4.5 and 7.5?tons/ha treatments, respectively. Redundancy analysis (RDA) showed that soil pH was the most important factor shaping soil bacterial community. The results of this study suggest that proper dose of CaCO₃ additions to acid paddy soil in southern China could have positive effects on soil properties and bacterial community.     

Identifying water resources management strategies in adaptation to climate change under uncertainty

In this study, an integrated simulation-based allocation modeling system (ISAMS) is developed for identifying water resources management strategies in response to climate change. The ISAMS incorporates global climate models (GCMs), a semi-distributed land use-based runoff process (SLURP) model, and a multistage interval-stochastic programming (MISP) approach within a general framework. The ISAMS can not only handle uncertainties expressed as probability distributions and interval values but also reveal climate change impacts on water resources allocation under different projections of GCMs. The ISAMS is then applied to the Kaidu-kongque watershed with cold arid characteristics in the Tarim River Basin (the largest inland watershed basin in China) for demonstrating its efficiency. Results reveal that different climate change models corresponding to various projections (e.g., precipitation and temperature) would lead to changed water resources allocation patterns. Variations in water availability and demand due to uncertainties could result in different water allocation targets and shortages. A variety of decision alternatives about water allocations adaptive to climate change are generated under combinations of different global climate models and ecological water release plans. These findings indicate that understanding the uncertainties in water resources system, building adaptive methods for generating sustainable water allocation patterns, and taking actions for mitigating water shortage problems are key adaptation strategies responding to climate change.     

First Detection of Hepatitis E Virus in Shellfish and in Seawater from Production Areas in Southern Italy

Shellfish samples (n = 384) from production areas, water samples from the same areas (n = 39) and from nearby sewage discharge points (n = 29) were analyzed for hepatitis E virus (HEV) by real-time and nested RT-PCR. Ten shellfish samples (2.6%) and five seawater samples (12.8%) tested positive for HEV; all characterized strains were G3 and showed high degree of sequence identity. An integrated surveillance in seafood and waters is relevant to reduce the risk of shellfish-associated illnesses.