Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic diagnosis remains scarce and inconsistent in middle-income countries such as Brazil.

Exploring cognitive functions and brain structure in Hereditary Transthyretin amyloidosis using brain MRI and neuropsychological assessment.

Background: Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the brain related to cognition in ATTRv amyloidosis. This study aimed to investigate cognition and cortical morphology in a cohort of ATTRv patients.

Slow pyrolysis of L. municipal solid waste and the use of the aqueous fraction produced for bovine mastitis control.

The L. tree is an ornamental and shade tree producter of a large amount of biological waste sent to landfills. Therefore, this plant constitutes so-called municipal solid wood waste (MSWW), which causes undesirable impacts on the environment, such as the generation of methane through the action of microorganisms.

Diet as an epigenetic factor in inflammatory bowel disease.

Inflammatory bowel disease (IBD) has as a main characteristic the exacerbation of the immune system against enterocytes, compromising the individual's intestinal microbiota. This inflammatory cascade causes several nutritional deficiencies, which further compromise immunological functioning and, as a result, worsen the prognosis. This vicious cycle can be interrupted as the patient's dietary pattern meets their needs according to their clinical condition, acting directly on the inflammatory process of IBD through the interaction of food, intestinal microbiota, and epigenome.

Naked neck gene and intermittent thermal manipulations during embryogenesis improve posthatch performance and thermotolerance in slow-growing chickens under tropical climates.

Many studies have shown that thermal manipulations during the incubation (TMI) and naked neck gene (Na) positively affect heat-stressed broilers' thermotolerance, hatching process, and posthatch performance. Their combination could increase the beneficial effect on broilers reared under natural tropical climatic conditions. The aim of this study was to investigate the effects of the Na gene and TMI on hatching and posthatch performance of slow-growing broilers under tropical climates.

Hierarchical spatiotemporal modeling of human visceral leishmaniasis in Rio Grande do Norte, Brazil.

Visceral leishmaniasis (VL) is a neglected tropical disease that is globally distributed and has the potential to cause very serious illness. Prior literature highlights the emergence and spread of VL is influenced by multiple factors, such as socioeconomic status, sanitation levels or animal and human reservoirs. The study aimed to retrospectively investigate the presence and infectiousness of VL in Rio Grande do Norte (RN), Brazil between 2007 and 2020.

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) are associated with several subtypes of Charcot-Marie-Tooth (CMT) disease, including autosomal recessive and demyelinating (CMT4A); autosomal recessive and axonal (AR-CMT2K); autosomal dominant and axonal (CMT2K); and an intermediate and recessive form (CMTRIA). To date, at least 103 mutations in this gene have been described, but the relative frequency of GDAP1 mutations in the Brazilian CMT population is unknown. In this study, we investigated the frequency of GDAP1 mutations in a cohort of 100 unrelated Brazilian CMT patients.

Detection of Extended-Spectrum -Lactamases (ESBL) Producing Enterobacteriaceae from Fish Trapped in the Lagoon Area of Bizerte, Tunisia.

Extended-spectrum -lactamase and their molecular mechanism in were analyzed in 126 fish samples of 9 various wild species, living in the lagoon of Bizerte in Tunisia. Fifty-nine (59) Gram-negative strains were isolated and identified as ( = 24), ( = 21), ( = 8), and ( = 6). Forty-seven ESBL producers were identified using the synergic test.

Impaired DNA-binding affinity of novel PAX6 mutations.

Mutations in human PAX6 gene are associated with various congenital eye malformations including aniridia, foveal hypoplasia, and congenital nystagmus. These various phenotypes may depend on the mutation spectrums that can affect DNA-binding affinity, although this hypothesis is debatable. We screened PAX6 mutations in two unrelated patients with congenital nystagmus, and measured DNA-binding affinity through isothermal titration calorimetry (ITC).

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD. Sixty-eight patients who met the diagnostic criteria for MD of the Barany Society were included.

On prediction of the compressive strength and failure patterns of human vertebrae using a quasi-brittle continuum damage finite element model.

Purpose: Damage of bone structures is mainly conditioned by bone quality related to the bone strength. The purpose of this work was to present a simple and reliable numerical treatment of a quasi-brittle damage constitutive model coupled with two different elastic modulus and to compare the numerical results with the experimental ones.

Methods: To achieve this goal, a QCT based finite element model was developed within the framework of CDM (Continuum Damage Mechanics) and implemented in the FE code (ABAQUS).

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

Purpose: We investigate the genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome in Korean probands.

Methods: A total of 37 patients with infantile nystagmus syndrome were recruited prospectively for genetic analysis. We performed polymerase chain reaction (PCR)-based direct sequencing and haplotype analysis for FRMD7.

Short-term calorie restriction ameliorates genomewide, age-related alterations in DNA methylation.

DNA methylation plays major roles in many biological processes, including aging, carcinogenesis, and development. Analyses of DNA methylation using next-generation sequencing offer a new way to profile and compare methylomes across the genome in the context of aging. We explored genomewide DNA methylation and the effects of short-term calorie restriction (CR) on the methylome of aged rat kidney.

Molecular cloning of a hyaluronidase from Bothrops pauloensis venom gland.

Background: Hyaluronate is one of the major components of extracellular matrix from vertebrates whose breakdown is catalyzed by the enzyme hyaluronidase. These enzymes are widely described in snake venoms, in which they facilitate the spreading of the main toxins in the victim's body during the envenoming. Snake venoms also present some variants (hyaluronidases-like substances) that are probably originated by alternative splicing, even though their relevance in envenomation is still under investigation.

Systemic effects induced by intralesional injection of ω-conotoxin MVIIC after spinal cord injury in rats.

Background: Calcium channel blockers such as conotoxins have shown a great potential to reduce brain and spinal cord injury. MVIIC neuroprotective effects analyzed in in vitro models of brain and spinal cord ischemia suggest a potential role of this toxin in preventing injury after spinal cord trauma. However, previous clinical studies with MVIIC demonstrated that clinical side effects might limit the usefulness of this drug and there is no research on its systemic effects.

Analysis of mutations in father-son pairs with 17 Y-STR loci.

We have examined 389 father/son sample pairs from U.S. Caucasians, African Americans, Hispanics and Asians using the 17 Y-STR loci in the Yfilertrade mark kit and observed a total of 24 differences between father and son.

Nutritional state of beta-carotene and retinol in institutionalized elderly individuals of México City.

A study of the nutritional status of beta-carotene and retinol of 228 institutionalized elderly individuals, in four elderly homes of México City was carried out. Subjects varied between 61 and 101 years of age (151 were females and 77 were males). High pressure liquid chromatography was used to quantitate retinol and beta-carotene.