Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings.

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.

The impacts of obesity in rheumatoid arthritis and insights into therapeutic purinergic modulation.

Rheumatoid Arthritis (RA) is an autoimmune condition responsible for the impairment of synovia and joints, endangering the functionality of individuals and contributing to mortality. Currently, obesity is increasing worldwide, and recent studies have suggested an association between such condition and RA. In this sense, obese individuals present a lower capacity for achieving remission and present more intense symptoms of the disease, demonstrating a link between both disorders.

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome.

Gastric adenocarcinoma and periodontal disease: A systematic review and meta-analysis.

Background: The oral cavity is a link between of external environment with gastrointestinal tract. Studies are controversial on the presence of Periodontal Disease (PD) and its association with Gastric Adenocarcinoma (GAC).

Methods: The authors performed a systematic review and meta-analysis to verify the association between PD and GAC.

Assessment of the ecological quality status of the Sepetiba Bay (SE Brazil): When metabarcoding meets morphology on foraminifera.

In recent years, the region surrounding Sepetiba Bay (SB; SE Brazil) has become a hub of intense urban expansion and economic exploitation in response to ore transport and industrial and port activities. As a result, contaminants have been introduced into the bay, leading to an overall worsening of the environmental quality. The present work applies for the first time a foraminiferal morphology-based approach (M) and eDNA-based metabarcoding sequencing (G), along with geochemical data to assess the ecological quality status (EcoQS) in the SB.

Masticatory performance, self-perception of oral health, oral health-related quality of life and nutritional status of completely edentulous elderly patients submitted to different rehabilitation treatments: A cross-sectional study.

Background: The impact of treatments on completely edentulous individuals on masticatory performance (MP), oral health-related quality of life (OHRQoL), nutritional status (NS) and socio-economic profile (SP) is unclear in the literature.

Objective: To compare the MP, OHRQoL, NS and SP of totally edentulous elderly users of bimaxillary complete dentures (CD) and users of lower implant-supported fixed complete dentures (IFCD).

Methods: Forty participants were allocated into groups according to rehabilitation treatment (n = 20): bimaxillary CD (G1) and lower IFCD, and upper CD (G2).

Pancreatoduodenectomy with Venous Resection or Palliative Therapy? A Meta-Analysis.

This review evaluated the risks and survival benefits of pancreatoduodenectomy associated with venous resection compared with palliative surgery. A systematic review with meta-analysis was performed. Higher overall survival was observed in the pancreatic resection group (HR = 4.

Effects of preoperative sarcopenia-related parameters on the musculoskeletal and metabolic outcomes after bariatric surgery: a one-year longitudinal study in females.

Reduced muscle mass and/or strength are risk factors for metabolic and musculoskeletal impairment. The present study evaluated anthropometric, metabolic, and musculoskeletal outcomes in females with and without sarcopenic-obesity parameters who underwent bariatric surgery during a 1-year follow-up. A prospective, single-center cohort study was conducted in females with obesity undergoing preoperative evaluation for surgery.

Handgrip force and bite force in dentulous and edentulous individuals.

Background: The literature is unclear about bite force (BF) and handgrip force (HF) in a specific group of different ages and dentate conditions, or even a predictive model for each specific group, using BF and HF as factors.

Objective: To establish the correlation between HF and BF in female participants with distinct ages and dentate conditions; also create a predictive model of BF as a function of HF.

Methods: Participants were divided into three groups (GI: young natural dentate women, n = 65; GII: adult natural dentate women, n = 67; and GIII: edentulous women users of bimaxillary complete dentures, n = 67) and subjected to an HF measurement test using a digital dynamometer.

Epidemiological, Clinical, and Genomic Profile in Head and Neck Cancer Patients and Their Families.

Inherited cancer predisposition genes are described as risk factors in head and neck cancer (HNC) families. To explore the clinical and epidemiological data and their association with a family history of cancer, we recruited 74 patients and 164 relatives affected by cancer. The germline copy number alterations were evaluated in 18 patients using array comparative genomic hybridization.

Evidence for local transmission and maintenance of schistosomiasis in an urban neighbourhood in Northeast Brazil.

Schistosomiasis is a tropical neglected disease commonly associated with rural areas; however, urban schistosomiasis has been reported worldwide, and increasing urbanization is one of the most important demographic shifts of the 20th and now 21st centuries. The pattern of urbanization is not uniform so that within the same city the rates and sources of population increase vary. Here, we report on the parasite composition in one neighbourhood in the metropolitan area of Salvador, Bahia, Brazil.

Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil.

Introduction: The Band 3 is a red blood cell protein that carries the Di and Di antigens from the Diego blood system. The SLC4A1 gene encodes Band 3; Band 3 Memphis is a polymorphism of normal Band 3 and has two variants, but only the variant II carries the Di antigen.

Objectives: Describe the frequencies of the DI*A and DI*B alleles and the Band 3 Memphis among blood donors, sickle cell disease (SCD) patients and Amazonian Indians.

An Alternative Digital Image Correlation-Based Experimental Approach to Estimate Fracture Parameters in Fibrous Soft Materials.

One of the main challenges in experimental fracture mechanics is to correctly estimate fracture parameters of a nonhomogeneous and nonlinear material under large deformation. The crack tip detection is strongly affected by fibers at crack tip, leading to inaccurate measures. To overcome this limitation, a novel methodology based on the Digital Image Correlation (DIC) method for crack tip detection of fibrous soft composites is proposed in this work.

Biomechanics in Keratoconus Diagnosis.

To prospectively review the importance of biomechanical assessment in the screening, diagnosis, prognosis, individualized planning, and clinical follow-up for ectatic corneal diseases. We demonstrate two commercially available devices to assess the corneal biomechanics , the Ocular Response Analyzer (ORA, Reichester, NY, USA) and the Corvis ST (Oculus, Wetzlar, Germany). Novel devices have been demonstrated to provide biomechanical measurements, including Brillouin optical microscopy and OCT elastography.

Comparing exercises with and without electromyographic biofeedback in subacromial pain syndrome: A randomized controlled trial.

Background: Deficits in movement and muscle activation of scapulohumeral joint are related to Subacromial Pain Syndrome. Electromyography biofeedback during exercise may enhance muscle activation and coordination, and consequently improve pain and shoulder function.

Methods: This study compared the effects of an exercise protocol with and without using electromyographic biofeedback on pain, function and movement of the shoulder complex in subjects with Subacromial Pain Syndrome.

Biomarker evaluation for prognostic stratification of patients with COVID-19: the added value of quantitative chest CT.

Pulmonary disease burden and biomarkers are possible predictors of outcomes in patients with COVID-19 and provide complementary information. In this study, the prognostic value of adding quantitative chest computed tomography (CT) to a multiple biomarker approach was evaluated among 148 hospitalized patients with confirmed COVID-19. Patients admitted between March and July 2020 who were submitted to chest CT and biomarker measurement (troponin I, D-dimer and C-reactive protein) were retrospectively analyzed.

Identification and characterisation of SARS-CoV-2 and Human alphaherpesvirus 1 from a productive coinfection in a fatal COVID-19 case.

Background: During routine Coronavirus disease 2019 (COVID-19) diagnosis, an unusually high viral load was detected by reverse transcription real-time polymerase chain reaction (RT-qPCR) in a nasopharyngeal swab sample collected from a patient with respiratory and neurological symptoms who rapidly succumbed to the disease. Therefore we sought to characterise the infection.

Objectives: We aimed to determine and characterise the etiological agent responsible for the poor outcome.

Secondary Hyperparathyroidism, Bone Density, and Bone Turnover After Bariatric Surgery: Differences Between Roux-en-Y Gastric Bypass and Sleeve Gastrectomy.

Purpose: Bariatric surgery may lead to metabolic bone disease.

Materials And Methods: In this cross-sectional study, we compared the prevalence of secondary hyperparathyroidism (SHPT), impact on bone mass and turnover markers, and serum leptin after Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) in 117 patients (91% female, 51% RYGB, age 41.8 ± 6.

The impact of venous resection in pancreatoduodectomy: A systematic review and meta-analysis.

Background: Vein resection pancreatoduodenectomy (VRPD) may be performed in selected pancreatic cancer patients. However, the main risks and benefits related to VRPD remain controversial.

Objective: This review aimed to evaluate the risks and survival benefits that the VRPD may add when compared with standard pancreatoduodenectomy (PD).

Evaluation of anthropometry as an alternative to DXA as predictor of low bone mineral density in children and adolescents with cystic fibrosis.

Background & Aims: Low bone mineral density (BMD) for age in people with Cystic Fibrosis (CF) is associated with worse nutritional status. The aim of this study is to assess body composition by anthropometry as a predictor of BMD in people with CF.

Methods: Multicenter cross-sectional study with 39 people aged 5 and 20 years with CF.

Molecularly imprinted polymers as a selective sorbent for forensic applications in biological samples-a review.

Molecularly imprinted polymers (MIP) consist of a molecular recognition technology with applicability in different areas, including forensic chemistry. Among the forensic applications, the use of MIP in biological fluid analysis has gained prominence. Biological fluids are complex samples that generally require a pre-treatment to eliminate interfering agents to improve the results of the analyses.