A Comparison of Haematological and Biochemical Profiles between Intrauterine Growth Restriction and Normal Piglets at 72 Hours Postpartum.

Intrauterine growth restriction in piglets has been a problem in the pig industry due to genetic selection based on hyperprolificacy. This has led to an increase in the number of underweight piglets and a worsening of the survival rate. The goal of this study was to enhance the knowledge of differences between normal and IUGR piglets a few hours after birth in terms of haematological variables, biochemical parameters, and immunoglobulin levels. Two groups of 20 piglets each were assessed. The control group (N) was made up of piglets with weights greater than 1500 g, and the IUGR group consisted of piglets weighing 500-1000 g and with at least two IUGR features. Blood samples were collected 72 h after birth for analysis of the red and white blood cell parameters, reticulocyte indices, platelet indices, biochemical parameters, and immunoglobulin levels. Alterations in red blood cells and reticulocytes, a lower lymphocyte count, hyperinsulinemia, and high oxidative stress were observed in IUGR piglets (p < 0.05). In contrast, differences were not observed (p > 0.05) in the serum immunoglobulin level. It can be concluded that the haematological and biochemical differences in IUGR piglets with respect to normal-weight piglets are present at birth indicating possible alterations in immunity, metabolism, and redox status; therefore, IUGR piglets could be more vulnerable to illness and future disorders, such as metabolic syndrome.

Removal of As(III) via adsorption and photocatalytic oxidation with magnetic Fe-Cu nanocomposites.

Magnetic Fe-Cu nanocomposites with high adsorption capacity and photocatalytic properties were prepared via the precursor method using soluble substances isolated from urban biowaste (BBS) as carbon sources and different temperatures of the pyrolysis treatment (400, 600, and 800 °C). BBS is used as complexing agent for the Fe3+ and Cu2+ ions in the precursors. The as-prepared magnetic materials were tested in As(III) removal processes from water. Dark experiments performed with the materials obtained at 400 and 600 °C showed excellent adsorption capacities achieving a significant uptake of 911 and 840 mg g-1 for As(III), respectively. Experiments conducted under steady-state irradiation showed a reduction of 50-71% in As(III) levels evidencing the meaningful photocatalytic capacity of Fe-Cu nanocomposites. The best photocatalytic performance was obtained for the nanocomposite synthesized at the highest pyrolysis temperature, in line with the reported trend of HO· radicals production. Transient absorption spectroscopy experiments revealed the occurrence of an alternative oxidation pathway involving the valence band holes and yielded relevant kinetic information related to the early stages of the As(III) photooxidation. The higher absorption of the electron-hole pairs observed for the samples treated at lower temperature means that controlling the pyrolysis temperature during the synthesis of the Fe-Cu nanocomposites allows tuning the photocatalyst activity for oxidation of substrates via valence band holes, or via HO· radicals.

Lessons Learned from In-Person Conferences in the Times of COVID-19.

Scientific societies and conference secretariats have recently resumed in-person meetings after a long pause owing to the COVID-19 pandemic. Some safety measures continue to be implemented at these in-person events to limit the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). With increased numbers of waves of infection, caused by the emergence of SARS-CoV-2 variants, additional information is needed to ensure maximal safety at in-person events. The MEX-DART case study was conducted at the in-person Hep-DART 2021 conference, which was held in Los Cabos, Mexico, in December 2021. Many COVID-19 safety measures were implemented, and incidence of SARS-CoV-2 infection during the conference was tested onsite. In this study, we highlight the specific conditions and safety measures set in place at the conference. In addition to vaccination requirements, social distancing, and mask wearing, daily rapid testing was implemented for the duration of the conference. At the end of the 4-day meeting, none of the 166 delegates (and family members attending the conference) had tested antigen positive for SARS-CoV-2. Two delegates tested positive in the week after the conference; the timing of their positive test result suggests that they contracted the virus during their travels home or during postconference vacationing. We believe that this model can serve as a helpful template for organizing future in-person meetings in the era of COVID-19 and any other respiratory virus pandemics of the future. While the outcomes of this case study are encouraging, seasonal surges in respiratory virus infections such as SARS-CoV-2, RSV, and influenza virus incidence suggest that continued caution is warranted.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.

A SCN4A mutation causing paramyotonia congenita.

Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related SCN4A phenotypes exhibit an autosomal dominant inheritance and are the result of mutations that cause an increase in the function of the protein coded by this gene. In this study we present a case of paramyotonia congenita in a family with several affected members and in which a mutation in the SCN4A gene was identified. Evolutionary conservation data and predictive algorithms of pathogenicity allow us to conclude that this DNA variant is the cause of the disease in this family.

The anti/syn conformation of 8-oxo-7,8-dihydro-2'-deoxyguanosine is modulated by Bacillus subtilis PolX active site residues His255 and Asn263. Efficient processing of damaged 3'-ends.

8-oxo-7,8-dihydro-2'-deoxyguanosine (8oxodG) is a major lesion resulting from oxidative stress and found in both DNA and dNTP pools. Such a lesion is usually removed from DNA by the Base Excision Repair (BER), a universally conserved DNA repair pathway. 8oxodG usually adopts the favored and promutagenic syn-conformation at the active site of DNA polymerases, allowing the base to hydrogen bonding with adenine during DNA synthesis. Here, we study the structural determinants that affect the glycosidic torsion-angle of 8oxodGTP at the catalytic active site of the family X DNA polymerase from Bacillus subtilis (PolXBs). We show that, unlike most DNA polymerases, PolXBs exhibits a similar efficiency to stabilize the anti and syn conformation of 8oxodGTP at the catalytic site. Kinetic analyses indicate that at least two conserved residues of the nucleotide binding pocket play opposite roles in the anti/syn conformation selectivity, Asn263 and His255 that favor incorporation of 8oxodGMP opposite dA and dC, respectively. In addition, the presence in PolXBs of Mn2+-dependent 3'-phosphatase and 3'-phosphodiesterase activities is also shown. Those activities rely on the catalytic center of the C-terminal Polymerase and Histidinol Phosphatase (PHP) domain of PolXBs and, together with its 3'-5' exonuclease activity allows the enzyme to resume gap-filling after processing of damaged 3' termini.