Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.

Orbital Bone Fracture Repair Evaluation Through 3-Dimensional Computational Reconstruction and Orbital Volumetric Assessment.

Background: Three-dimensional (3D) models generated from computed tomography (CT) images efficiently and accurately complement surgical comprehension. Additionally, computer modeling provides a substrate for comparative analysis of the treated orbit volume. This study aimed to investigate cases of orbital bone fractures with regard to orbital-defect correction, through 3D computational structural modeling and evaluation of orbital volume.

Comparison of the mechanisms of DNA damage following photoexcitation and chemiexcitation.

In this review, we compare the mechanisms and consequences of electronic excitation of DNA via photon absorption or photosensitization, as well as by chemically induced generation of excited states. The absorption of UV radiation by DNA is known to produce cyclobutane pyrimidine dimers (CPDs) and thymine pyrimidone photoproducts. Photosensitizers are known to enable such transformations using UV-A and visible light by generating triplet species able to transfer energy to DNA.

Alveolar Bone Graft Supplemented With Stromal Vascular Fraction in Patients With Permanent Dentition: A Randomized Study.

Objective: To evaluate bone development in patients with alveolar clefts and permanent dentition treated with alveolar bone graft supplemented with stromal vascular fraction (SVF).

Design: Clinical, prospective, randomized.

Location: Single tertiary care institution.

Bright and long-lasting aqueous peroxyoxalate chemiluminescence in cellulose microspheres.

Water decreases the brightness of the peroxyoxalate chemiluminescence partially due to the hydrolysis of the oxalate reagent. Here, we show that encapsulation of an oxalate ester and the fluorescent activator in microspheres of cellulose esters increases the emission intensity 30 times compared to the same reaction in water without encapsulation, whereas the emission intensity decay rate constants are considerably lower. Emission intensities, rate constants and chemiluminescence quantum yields increase with increasing hydrogen peroxide concentrations.

EFFICACY AND SAFETY OF ONE ANASTOMOSIS GASTRIC BYPASS IN SURGICAL TREATMENT OF OBESITY: SYSTEMATIC REVIEW AND META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS.

Background: One anastomosis gastric bypass (OAGB) has gained prominence in the search for better results in bariatric surgery. However, its efficacy and safety compared to Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) remain ill-defined.

Aims: To compare the efficacy and safety of OAGB relative to RYGB and SG in the treatment of obesity.

Statistical Signal Detection Algorithm in Safety Data: A Proprietary Method Compared to Industry Standard Methods.

Introduction: Several quantitative methods have been established, in pharmacovigilance, to detect signals of disproportionate reporting (SDRs) from databases containing reports of adverse drug reactions (ADRs). The signal detection algorithms (SDAs) and the source of the reporting per product vary, but it is unclear whether any algorithm can provide satisfactory performance using data with such large variance factors.

Objective: Determine the appropriate SDA for Biogen's internal Global Safety Database (GSD) given the characteristics of the database including frequencies of events, data skewness, outliers, and missing information.

Isolated hypertelorism: Late surgical correction using the box osteotomy technique.

Background: Orbital hypertelorism is a rare congenital condition caused by craniofacial malformations. It consists of complete orbital lateralization, characterized by an increase in distance (above the 95 percentile) of the inner canthal (ICD), outer canthal, and interpupillary distances. It can be approached surgically, and the main techniques are box osteotomy and facial bipartition.

Medium and Long-Term Weight Loss After Revisional Bariatric Surgery: A Systematic Review and Meta-Analysis.

Despite the current increase in revisional bariatric surgery (RBS), data on the sustainability of weight loss remain unclear. A systematic review and meta-analysis were performed to assess weight loss outcomes in adult patients undergoing RBS with follow-up > 2 years. Twenty-eight observational studies (n = 2213 patients) were included.

Effects of ocean warming and pollution on Sargassum forests.

The combined effects of climate change and ocean pollution have resulted in a noteworthy decline of canopy-forming species, impacting marine biodiversity and ecosystem functioning significantly. In this context, Sargassum cymosum, which is widely distributed along the southwestern Atlantic Ocean, serves as an excellent model among canopy-forming species to investigate these impacts on populations in different regions and environmental conditions. Here, we evaluate the ecophysiological responses of two populations of S.

Physical and chemical characterization of drill cuttings: A review.

Drill cuttings comprise a mixture of rocks generated during drilling activities of exploration and production of oil and gas. These residues' properties are variable, depending on several drilling parameters and drilled rock composition. Many scientific studies have been published regarding the characterization of these residues.

Genomic Medicine in Canine Periodontal Disease: A Systematic Review.

Genomic medicine has become a growing reality; however, it is still taking its first steps in veterinary medicine. Through this approach, it will be possible to trace the genetic profile of a given individual and thus know their susceptibility to certain diseases, namely periodontal disease. This condition is one of the most frequently diagnosed in companion animal clinics, especially in dogs.

Endogenous Photosensitizers in Human Skin.

Endogenous photosensitizers play a critical role in both beneficial and harmful light-induced transformations in biological systems. Understanding their mode of action is essential for advancing fields such as photomedicine, photoredox catalysis, environmental science, and the development of sun care products. This review offers a comprehensive analysis of endogenous photosensitizers in human skin, investigating the connections between their electronic excitation and the subsequent activation or damage of organic biomolecules.

Levelling-up rhodolith-bed science to address global-scale conservation challenges.

Global marine conservation remains fractured by an imbalance in research efforts and policy actions, limiting progression towards sustainability. Rhodolith beds represent a prime example, as they have ecological importance on a global scale, provide a wealth of ecosystem functions and services, including biodiversity provision and potential climate change mitigation, but remain disproportionately understudied, compared to other coastal ecosystems (tropical coral reefs, kelp forests, mangroves, seagrasses). Although rhodolith beds have gained some recognition, as important and sensitive habitats at national/regional levels during the last decade, there is still a notable lack of information and, consequently, specific conservation efforts.

The Molecular Basis of Organic Chemiluminescence.

Bioluminescence (BL) and chemiluminescence (CL) are interesting and intriguing phenomena that involve the emission of visible light as a consequence of chemical reactions. The mechanistic basis of BL and CL has been investigated in detail since the 1960s, when the synthesis of several models of cyclic peroxides enabled mechanistic studies on the CL transformations, which led to the formulation of general chemiexcitation mechanisms operating in BL and CL. This review describes these general chemiexcitation mechanisms-the unimolecular decomposition of cyclic peroxides and peroxide decomposition catalyzed by electron/charge transfer from an external (intermolecular) or an internal (intramolecular) electron donor-and discusses recent insights from experimental and theoretical investigation.

Estimating sequence diversity of prion protein gene () in Portuguese populations of two cervid species: red deer and fallow deer.

Among the transmissible spongiform encephalopathies (TSEs), chronic wasting disease (CWD) in cervids is now a rising concern in wildlife within Europe, after the detection of the first case in Norway in 2016, in a wild reindeer and until June 2022 a total of 34 cases were described in Norway, Sweden and Finland. The definite diagnosis is , performed in target areas of the brain and lymph nodes. Samples are first screened using a rapid test and, if positive, confirmed by immunohistochemistry and Western immunoblotting.

Corrigendum to "Extraction of notable points from ECG data: A description of a dataset related to 30-s seated and 30-s stand up" [Data in Brief, volume 46 (2023) 108874].

[This corrects the article DOI: 10.1016/j.dib.

Chemiexcited Neurotransmitters and Hormones Create DNA Photoproducts in the Dark.

In DNA, electron excitation allows adjacent pyrimidine bases to dimerize by [2 + 2] cycloaddition, creating chemically stable but lethal and mutagenic cyclobutane pyrimidine dimers (CPDs). The usual cause is ultraviolet radiation. Alternatively, CPDs can be made in the dark (dCPDs) via chemically mediated electron excitation of the skin pigment melanin, after it is oxidized by peroxynitrite formed from the stress-induced radicals superoxide and nitric oxide.

Extraction of notable points from ECG data: A description of a dataset related to 30-s seated and 30-s stand up.

It is increasingly possible to acquire Electrocardiographic data with featured low-cost devices. The proposed dataset will help map different signals for various diseases related to Electrocardiography data. The dataset presented in this paper is related to the acquisition of electrocardiography data during the standing up and seated positions.

Structural Effects on the Antioxidant Properties of Amino Acid Betaxanthins.

Betaxanthins are natural products with high antioxidant and anti-inflammatory properties. Here, we describe the semisynthesis of twenty-one betaxanthins derived from proteinogenic amino acids, including the elusive betaxanthin of l-cysteine and two betaxanthins derived from l-lysine, and rationalize their antioxidant properties in mechanistic terms. The antioxidant capacity and redox potential of these betaxanthins were compared to those of model betaxanthins derived from dopamine, l-DOPA (L-3,4-dihydroxyphenylalanine), and pyrrolidine and structure-property relationships were established by using matched molecular pair analysis and a model developed using a genetic algorithm.

Pharmacological Potential of Flavonoids against Neurotropic Viruses.

Flavonoids are a group of natural compounds that have been described in the literature as having anti-inflammatory, antioxidant, and neuroprotective compounds. Although they are considered versatile molecules, little has been discussed about their antiviral activities for neurotropic viruses. Hence, the present study aimed to investigate the pharmacological potential of flavonoids in the face of viruses that can affect the central nervous system (CNS).

Safety of biological therapy in patients with rheumatoid arthritis in administrative health databases: A systematic review and meta-analysis.

Rheumatoid arthritis (RA) is a systemic inflammatory disease that affects the synovial fluid of joints, tendons, and some extra-articular sites. Biologic agents have been highly effective and are comparable in reducing RA symptoms, slowing disease progression, and improving physical function; however, concerns have been raised about the risks of several potential adverse effects. Thus, this study aimed to assess the safety of biological therapy in patients with rheumatoid arthritis in observational studies using administrative health databases.