Inv21p12q22del21q22 and intellectual disability

Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalance in offspring. Less than 3% of Down syndrome patients have duplication as a result of parental pericentric inversion of chromosome 21. We report a family with an apparently balanced pericentric inversion of chromosome 21. The proband, a 23-year-old female was referred for prenatal diagnosis at 16weeks gestation because of increased nuchal translucency. She has a familial history of Down's syndrome and moderate intellectual disability, a personal history of four spontaneous abortions and learning difficulties. Peripheral blood and amniotic fluid samples were collected to perform proband's and fetus' cytogenetic analyses. Additionally, another six family members were evaluated and cytogenetic analysis was performed. Complementary FISH and MLPA studies were carried out. An apparent balanced chromosome 21 pericentric inversion was observed in four family members, two revealed a recombinant chromosome 21 with partial trisomy, and one a full trisomy 21 with an inverted chromosome 21. Array CGH analysis was performed in the mother and the brother's proband. MLPA and aCGH studies identified a deletion of about 1.7Mb on the long arm of inverted chromosome 21q22.11. We believe the cause of the intellectual disability/learning difficulties observed in the members with the inversion is related to this deletion. The recombinant chromosome 21 has a partial trisomy including the DSCR with no deletion. The risk for carriers of having a child with multiple malformations/intellectual disability is about 30% depending on whether and how this rearrangement interferes with meiosis

Radiological profile of anemia on unenhanced MDCT of the thorax.

Our aim was to investigate the diagnostic value of unenhanced MDCT in anemic patients. Fifty consecutive patients with proven anemia and 50 nonanemic matched group for age, sex and body mass index were evaluated. In either group, hemoglobin levels were assessed no more than 24 h from an unenhanced CT of the thorax. For each patient, the presence of a hyperattenuating aortic wall (aortic ring sign) and/or dense interventricular septum (subjective parameters) were identified by two radiologists who were blinded to the laboratory findings. Furthermore, the aortic CT attenuation values (objective parameter) were also obtained and correlated with the hemoglobin levels. The sensitivity and specificity in detecting anemia were calculated for each variable, and ROC analysis was generated for subjective and objective parameters. Subjective image analysis revealed that the aortic ring sign was more sensitive than the interventricular septum sign for anemia detection (84% vs. 72%), whereas this latter sign was more specific (100% vs. 92%). A good correlation (r = 0.60) was observed between the aortic CT attenuation values and the hemoglobin levels in the whole study population. Using a threshold of < or = 35 HU for anemia diagnosis, the sensitivity and specificity of aortic CT attenuation value were 84% and 94%, respectively, with the largest area under the curve (0.89) among all diagnostic criteria. However, the best trade-off between sensitivity (80%) and specificity (100%) was obtained from combining both subjective and objective analysis. Interpreting anemia upon unnenhanced MDCT of the thorax is quite feasible. A diagnostic approach that considers both subjective and objective analysis offers the best trade-off between sensitivity and specificity

Variation in the properties of biochars produced by mixing agricultural residues and mineral soils for agricultural application.

The research and application of biochars enriched with minerals have increased in recent years; however, the mineral fraction used consists of specific minerals, such as clay minerals and synthesized compounds. In this work, the effects of adding two specific soil types (sandy and clayey) to rice and coffee husks in order to generate biochars via pyrolysis was investigated. Chemical, physical?chemical, thermal, spectroscopic and crystallographic analyses were conducted on the produced biochars. The study confirmed that the presence of mineral soils during the pyrolysis process increases the yield, C retention ratio, and specific surface area. It also decreases the pH, cation exchange capacity (CEC), nutrient content, and carbon-to-nitrogen ratio of biochars. However, the biochars produced by mixing coffee husks and mineral soils still demonstrate a capacity to increase the pH and the CEC of tropical soils. In addition, increased C retention demonstrates an environmental benefit of this biochar production method. Biomass pyrolysis combined with clayey soil results in a biochar with a higher degree of aromaticity and higher thermal stability when compared to biomass pyrolysis alone. These characteristics give the biochar a recalcitrant character, without the necessity for steps related to the synthesis of specific mineral compounds, which reduces the economic and energy cost of the process