Congenital toxoplasmosis in infants from chronically infected mothers: report of two cases.

Objective: To describe two severe cases of congenital toxoplasmosis in infants born to chronically infected mothers who did not receive education or information on the prevention of gestational toxoplasmosis during prenatal care.

Case Description: The mothers had a previous serological diagnosis of toxoplasmosis conducted during prenatal care, with non-reactive (<10 IU/mL) IgM and reactive IgG (>10 IU/mL), and were considered "immune" to the infection. Both infants were born with sequelae of the congenital infection, including neurological and ocular alterations.

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.

McGrath MAC Versus Three-Dimensional Printed Video Laryngoscopes: A Randomized, Manikin-Simulated Noninferiority Controlled Study with Medical Students.

Background: Proficiency in endotracheal intubation (ETI) is essential for medical professionals and its training should start at medical schools; however, large caseload may be required before achieving an acceptable success rate with direct laryngoscopy. Video laryngoscopy has proven to be an easier alternative for intubation with a faster learning curve, but its availability in medical training may be an issue due to its high market prices. We devised a low-cost 3-dimensionally printed video laryngoscope (3DVL) and performed a randomized trial to evaluate if the intubation success rate on the first attempt with this device is noninferior to a standard commercially available video laryngoscope (STVL).

Genetic parameters and genome-wide association studies including the X chromosome for various reproduction and semen quality traits in Nellore cattle.

Background: The profitability of the beef industry is directly influenced by the fertility rate and reproductive performance of both males and females, which can be improved through selective breeding. When performing genomic analyses, genetic markers located on the X chromosome have been commonly ignored despite the X chromosome being one of the largest chromosomes in the cattle genome. Therefore, the primary objectives of this study were to: (1) estimate variance components and genetic parameters for eighteen male and five female fertility and reproductive traits in Nellore cattle including X chromosome markers in the analyses; and (2) perform genome-wide association studies and functional genomic analyses to better understand the genetic background of male and female fertility and reproductive performance traits in Nellore cattle.