Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2.

Women in situations of sexual violence: potentialities and weaknesses of the intersectoral network.

Objectives: to identify potentialities and weaknesses of the intersectoral network for women in situations of sexual violence, from the perspective of Intervention Bioethics and the Universal Declaration on Bioethics and Human Rights.

Methods: qualitative study conducted with multidisciplinary team members who work in intersectoral care services for women subject to sexual violence. It was held in a municipality in southern Brazil.

Hyperammonemia syndrome due to Ureaplasma urealyticum in a kidney transplant recipient: A case of disseminated disease from a fluoroquinolone-resistant isolate.

Ureaplasma species (spp.) are common colonizers of the urogenital tract but may cause systemic infection in immunocompromised patients. They release significant amounts of ammonia via urea hydrolysis and have been recently implicated in the pathogenesis of hyperammonemia syndrome after organ transplantation.

The effects of a model statement on information elicitation and deception detection in multiple interviews.

Researchers started developing interview techniques to enhance deception detection in forensic settings. One of those techniques is the Model Statement, which has been shown to be effective for eliciting information and cues to deception in single interviews. In the current research, we focused on the effect of the Model Statement in multiple interviews.

The V410L knockdown resistance mutation occurs in island and continental populations of Aedes aegypti in West and Central Africa.

The extensive use of insecticides for vector control has led to the development of insecticide resistance in Aedes aegypti populations on a global scale, which has significantly compromised control actions. Insecticide resistance, and its underlying mechanisms, has been investigated in several countries, mostly in South American and Asian countries. In Africa, however, studies reporting insecticide resistance are rare and data on resistance mechanisms, notably knockdown resistance (kdr) mutations, is scarce.

Proportion of complications in interpreter-absent and interpreter-present interviews.

Recently, researchers have started searching for combinations of verbal cues to deceit and verbal cues to truth. The proportion of complications (complications divided by complications plus common knowledge details plus self-handicapping strategies) is an example of such a combination, as it includes one verbal cue of truth (complications) and two verbal cues of deceit (common knowledge details and self-handicapping strategies). This study examines whether or not complications, common knowledge details, self-handicapping strategies and the proportion of complications can differentiate truth-tellers from liars in interpreter-absent and interpreter-present interviews.

Evaluation of Commercial Molecular Diagnostic Methods for Detection and Determination of Macrolide Resistance in Mycoplasma pneumoniae.

We evaluated six commercial molecular tests targeting , namely, the BioFire FilmArray respiratory panel (RP), the Meridian Alethia Mycoplasma Direct, the GenMark ePlex respiratory pathogen panel (RPP), the Luminex NxTAG RPP, the ELITech ELITe InGenius MGB research use only (RUO) PCR, and the SpeeDx MP assays. Laboratory-developed PCR assays at the University of Alabama at Birmingham and the Centers for Disease Control and Prevention were used as reference standards. Among 428 specimens, 212 were designated confirmed positives for The highest clinical sensitivities were found with the InGenius PCR (99.

Impact of epilepsy surgery on quality of life and burden of caregivers in children and adolescents.

Objective: The objective of this study was to analyze the impact of pediatric epilepsy surgery on the quality of life (QOL), determining whether patients improve, worsen, or maintain their preoperative patterns, as it relates to the burden of caregivers, as well as evaluating potential related factors, from both the children and caregivers perspectives.

Material And Methods: This is a retrospective study of children and adolescents who underwent epilepsy surgery and were evaluated through clinical data, videoelectroencephalogram (V-EEG), neuroimaging findings, neuropsychological testing, and aspects of QOL. These assessments were performed prior to surgery and after six months and two years of follow-up.

Development of dextrin-amphotericin B formulations for the treatment of Leishmaniasis.

The most effective medicines available for the treatment of leishmaniasis, a life-threatening disease, exhibit serious toxicological issues. To achieve better therapeutic efficiency while decreasing toxicity associated with amphotericin B (AmB), water-soluble dextrin-AmB (Dex-AmB) formulations were developed. Self-assembled nanocomplexes were formed by dissolving Dex and AmB in alkaline borate buffer, followed by dialysis and either freeze-drying (FD) or nano spray-drying (SD), yielding water dispersible particles with a diameter of 214 nm and 347 nm, respectively.

Abundance and Updated Distribution of (Diptera: Culicidae) in Cabo Verde Archipelago: A Neglected Threat to Public Health.

Background: Mosquito-borne viruses, such as Zika, dengue, yellow fever, and chikungunya, are important causes of human diseases nearly worldwide. The greatest health risk for arboviral disease outbreaks is the presence of the most competent and highly invasive domestic mosquito, . In Cabo Verde, two recent arbovirus outbreaks were reported, a dengue outbreak in 2009, followed by a Zika outbreak in 2015.

Cavity treatment in primary molars and malocclusion: quasi-randomised clinical trial.

Background: An innovative caries treatment protocol for primary teeth, termed Ultra-Conservative Treatment (UCT), restores small cavities through the Atraumatic Restorative Treatment (ART) protocol and cleans medium to large open cavities with toothbrush and fluoride toothpaste. However, UCT-treated primary molars were found to exfoliate earlier than amalgam (CRT) and ART-restored cavities, which may lead to unacceptable loss of space for normal eruption of permanent successors. The null-hypothesis tested was that there is no difference between the three treatment protocols and the intra-arch distances, and index of orthodontic treatment need (IOTN) after 4 years.

Applying the verifiability approach to deception detection in alibi witness situations.

The application of alibi witness scenarios to deception detection has been overlooked. Experiment 1 was a study of the verifiability approach in which truth-telling pairs completed a mission together, whereas in lying pairs one individual completed this mission alone and the other individual committed a mock theft. All pairs were instructed to convince the interviewer that they completed the mission together by writing individual statements on their own followed by a collective statement together as a pair.

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.

Objective: A small subset of children with congenital hearing loss have abnormal cochleovestibular nerves (i.e., absent, aplastic, or deficient cochlear nerves), with largely unknown etiology.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylation. Cytosine methylation (5-methylcytosine [5mC]) of DNA is the quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has yet been delineated.

An assessment of three contemporary dental caries epidemiological instruments: a critical review.

Aim Dental caries epidemiological surveys produce information that may be used to assist health policy makers in the planning of preventive and curative strategies. The detection instruments used in these surveys should be able to identify the correct, true stage of the disease or medical condition. This makes it essential that valid instruments are used.

Association of dental caries morbidity stages with oral health-related quality of life in children and adolescents.

Background: Dental caries morbidity stages and their impact on oral health-related quality of life (OHRQoL) have not yet been established.

Aim: To compare the association of dental caries morbidity stages with OHRQoL in children and adolescents from public schools of Patos-PB, Brazil.

Design: A cross-sectional study was performed on 461 students at 8-10 years and 454 at 11-14 years.

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia.

Background: Type 1 diabetes (T1D) is a complex disease with a higher incidence in Europeans than other populations. The Colombians Living in Medellin (CLM) is admixed with ancestry contributions from Europeans, Native Americans (NAT) and Africans (AFR).

Aim: Our aim was to analyze the genetic admixture component at candidate T1D loci in Colombian individuals with the disease.

Intravitreal Combined Aflibercept + Anti-Platelet-Derived Growth Factor Receptor β for Neovascular Age-Related Macular Degeneration: Results of the Phase 2 CAPELLA Trial.

Purpose: To compare the efficacy and safety of intravitreal aflibercept + anti-platelet-derived growth factor receptor β (PDGFRβ) combination with intravitreal aflibercept injection (IAI) monotherapy in patients with treatment-naïve neovascular age-related macular degeneration (nAMD).

Design: Phase 2, randomized, double-masked study.

Participants: A total of 505 patients (eyes) with nAMD.

Assessing the Effect of a Telepharmacist's Recommendations During an Integrated, Interprofessional Telehealth Appointment and Their Alignment with Quality Measures.

Background: A growing provider shortage contributes to the widening gap in significant disparities that rural communities face. To expand access to care for rural-dwelling patients with epilepsy, a national nonprofit organization initiated an integrated, interprofessional telehealth program.

Objective: To identify gaps in care based on a telepharmacist's recommendations and determine whether these recommendations aligned with Health Effectiveness Data Information Set (HEDIS) performance measures.

Effects of oxygen on post-surgical infections during an individualised perioperative open-lung ventilatory strategy: a randomised controlled trial.

Background: We aimed to examine whether using a high fraction of inspired oxygen (FIO) in the context of an individualised intra- and postoperative open-lung ventilation approach could decrease surgical site infection (SSI) in patients scheduled for abdominal surgery.

Methods: We performed a multicentre, randomised controlled clinical trial in a network of 21 university hospitals from June 6, 2017 to July 19, 2018. Patients undergoing abdominal surgery were randomly assigned to receive a high (0.

The Gα-interacting vesicle-associated protein interacts with and promotes cell surface localization of GRP78 during endoplasmic reticulum stress.

Cell surface translocation of the chaperone glucose-regulated protein 78 kDa (GRP78) is a key event that promotes cancer cell survival during endoplasmic reticulum (ER) stress. Here, we identify Gα-interacting vesicle-associated protein (GIV) - an enhancer of prosurvival signaling during ER stress - as a binding partner of GRP78. We show that GIV and GRP78 interact in an ER stress-dependent manner through their respective carboxyl terminal domains and that GIV aids in the localization of GRP78 to the plasma membrane.

Amplifying deceivers' flawed metacognition: Encouraging disclosures after delays with a model statement.

Truth tellers provide less detail in delayed than in immediate interviews (likely due to forgetting), whereas liars provide similar amounts of detail in immediate and delayed interviews (displaying a metacognitive stability bias effect). We examined whether liar's flawed metacognition after delays could be exploited by encouraging interviewees to provide more detail via a Model Statement. Truthful and deceptive participants were interviewed immediately (n = 78) or after a three-week delay (n = 78).

Prospective Evaluation of Molecular Assays for Diagnosis of Vaginitis.

Molecular tests to diagnose conditions involving the disruption of normal microbiota are difficult to optimize. Using Nugent-scored Gram stain (NS) as the reference standard, we evaluated the performance of 3 molecular assays for the diagnosis of bacterial vaginosis (BV) and examined the impact of an incremental increase in bacterial targets. The BD Affirm assay includes a DNA probe for , the Hologic transcription-mediated amplification (TMA) analyte-specific reagent (ASR) assay adds a second sp.