Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.

Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions.

Is phase angle associated with visceral adiposity and cardiometabolic risk in cardiology outpatients?

Background/objectives: Phase angle (PhA) serves as a prognostic marker in various clinical scenarios, reflecting oxidative stress and cellular damage. Despite its clinical relevance, its connection with adiposity and cardiovascular risk markers remains underexplored. Hence, our study sought to investigate the relationship between PhA and metabolic, adiposity, and cardiovascular risk parameters among outpatients with cardiology diagnosis.

Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.

Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone.

Effect of the pilates method on pain and quality of life in pregnancy: A systematic review and meta-analysis.

Background: More than two-thirds of pregnant women experience low back pain during pregnancy. This condition increases with advancing pregnancy, interfering with work, daily activities and sleep.

Objective: To assess the efficacy of the Pilates method in comparison to prenatal care on the control of lower back pain in pregnant women.

Health Policies for Rare Disease Patients: A Scoping Review.

Objective: To identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries.

Method: A scoping review guided by the PRISMA-ScR and JBI checklists. The search for articles was conducted in eight electronic databases, MEDLINE/Pubmed, Embase, Cochrane Library, Web of Science, Scopus, CINAHL, PsycINFO, and LILACS, using controlled descriptors, synonyms, and keywords combined with Boolean operators.

Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.

Background: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries.

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown.

Chemical Composition of Magonia pubescens Essential Oils and Gamma-Radiation Effects on Its Constituents and Cytotoxic Activity in Leukemia and Breast Cancer Model.

Magonia pubescens A. St.-Hil.

Effect of copaíba essential oil (Copaifera officinalis L.) as a natural preservative on the oxidation and shelf life of sheep burgers.

We evaluated the effects of the inclusion of copaíba (Copaifera officinalis L.) essential oil at 0.05 and 0.

Impact on cholinesterase-inhibition and in silico investigations of sesquiterpenoids from Amazonian Siparuna guianensis Aubl.

The plant popularly known as "negramina" (Siparuna guianensis Aubl.), member of the family Siparunaceae produces an essential oil that presents several biological activities reported in literature. Here, the essential oil was obtained by hydrodistillation from fresh leaves collected in the state of Roraima, far north of the Amazon.

The sensitivity of Demodex canis (Acari: Demodicidae) to the essential oil of Melaleuca alternifolia - an in vitro study.

The essential oil of the Melaleuca alternifolia (Maiden & Betche) (tea tree oil) has been effective in previous studies, in the treatment of infestation by Demodex mites in humans. The present study aimed at evaluating the in vitro acaricidal effect of this herbal medicine on Demodex canis. For the parasitological examination, samples were collected from a dog's skin and examined using optical microscopy.

Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach.

Objective: To report the frequency of Lynch syndrome (LS) in a cohort of patients from Southeast Brazil bearing endometrial cancer (EC), using a tumor screening universal approach.

Methods: A total of 242 endometrial carcinomas were screened by immunohistochemistry (IHC) and microsatellite instability (MSI) for detection of DNA mismatch repair deficiency (dMMR). MLH1 methylation was assessed to identify sporadic cases.

Regression models to dependence for exceedance.

Extreme Value Theory (EVT) aims to study the tails of probability distributions in order to measure and quantify extreme events of maximum and minimum. In river flow data, an extreme level of a river may be related to the level of a neighboring river that flows into it. In this type of data, it is very common for flooding of a location to have been caused by a very large flow from an affluent river that is tens or hundreds of kilometers from this location.

Discrimination of genotypes coffee by chemical composition of the beans: Potential markers in natural coffees.

The chemical composition of coffee beans varies according to the cultivar used, but there is little information about the differences among them resulting in different sensory profiles. The purpose was to find potential chemical markers to discriminate genealogical groups of coffee using regression analysis by partial least squares. Twenty-two accessions of C.

Phytotoxic and antioxidant effects of dichloromethane fraction of Sprengel.

Dichloromethane (DCM) fraction and sub-fractions obtained from leaves were examined in order to determine their phytotoxic and antioxidant effects. The dichloromethane fraction was submitted to a preparative layer chromatography leading to seven sub-fractions (DCM1-DCM7). Gas chromatography-mass spectrometry (GC-MS) was performed on the dichloromethane sub-fractions.

Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.

Background: The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.

Methods: We used high-resolution melting, Sanger direct sequencing and multiplex ligation-dependent probe association (MLPA) assays to identify point mutations, and large genomic variations within the coding regions of APC and MUTYH genes.

Results: We identified 19 causative mutations in 40 Brazilian patients from 20 different families.

Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients.

Objective: To examine cerebral cortex thickness in asymptomatic first-degree relatives of patients with mesial temporal lobe epilepsy (MTLE).

Methods: We investigated 127 asymptomatic first-degree relatives of patients with MTLE due to hippocampal sclerosis (HS) (mean age ± SD = 39.4 ± 13 years) and 203 healthy control individuals (mean age ± SD = 36.

Production of omega 3, 6, and 9 fatty acids from hydrolysis of vegetable oils and animal fat with lipase.

Hydrolysis of vegetable oils (Olive, corn, peanut, sesame, flaxseed, soy, canola, garlic, sunflower, almond, castor bean oils) and beef marrow bone oil by lipase was studied. The enzyme was capable of generating free fatty acids from all oils tested. The higher hydrolytic activity of the enzyme was towards olive (18.

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.

Objective: Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology of the inner ear. In this research we wanted to investigate the prevalence of mutations in SLC26A4 in Brazilian patients with nonsyndromic prelingual sensorineural HL.

Direct top-quark decay width measurement in the lepton+jets channel at with the ATLAS experiment.

This paper presents a direct measurement of the decay width of the top quark using events in the lepton+jets final state. The data sample was collected by the ATLAS detector at the LHC in proton-proton collisions at a centre-of-mass energy of 8 TeV and corresponds to an integrated luminosity of 20.2 fb .

Measurement of colour flow using jet-pull observables in events with the ATLAS experiment at .

Previous studies have shown that weighted angular moments derived from jet constituents encode the colour connections between partons that seed the jets. This paper presents measurements of two such distributions, the jet-pull angle and jet-pull magnitude, both of which are derived from the jet-pull angular moment. The measurement is performed in events with one leptonically decaying  boson and one hadronically decaying  boson, using of collision data recorded by the ATLAS detector at delivered by the Large Hadron Collider.

Measurement of multi-particle azimuthal correlations in pp, p + Pb and low-multiplicity Pb + Pb collisions with the ATLAS detector.

Multi-particle cumulants and corresponding Fourier harmonics are measured for azimuthal angle distributions of charged particles in [Formula: see text] collisions at [Formula: see text] = 5.02 and 13 TeV and in [Formula: see text] + Pb collisions at [Formula: see text] = 5.02 TeV, and compared to the results obtained for low-multiplicity [Formula: see text] collisions at [Formula: see text] = 2.

Jet reconstruction and performance using particle flow with the ATLAS Detector.

This paper describes the implementation and performance of a particle flow algorithm applied to 20.2 fb[Formula: see text] of ATLAS data from 8 TeV proton-proton collisions in Run 1 of the LHC. The algorithm removes calorimeter energy deposits due to charged hadrons from consideration during jet reconstruction, instead using measurements of their momenta from the inner tracker.