Challenges in diagnosis and treatment of KCNJ11-MODY.

Summary: Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes and a rare type of diabetes, which accounts for 1-5% of cases and is often underdiagnosed. The importance of its diagnosis lies in the potential implications that it can have on disease management and offspring. We report a de novo KCNJ11-MODY case and the process of transition from insulin to sulfonylureas.

BacSPaD: A Robust Bacterial Strains' Pathogenicity Resource Based on Integrated and Curated Genomic Metadata.

The vast array of omics data in microbiology presents significant opportunities for studying bacterial pathogenesis and creating computational tools for predicting pathogenic potential. However, the field lacks a comprehensive, curated resource that catalogs bacterial strains and their ability to cause human infections. Current methods for identifying pathogenicity determinants often introduce biases and miss critical aspects of bacterial pathogenesis.

Microbiological characterization of neuropathic diabetic foot infection: a retrospective study at a Portuguese tertiary hospital.

Diabetic foot infection imposes a significant burden and is the major cause of nontraumatic limb amputation. Adequate patient management with effective antibiotic therapy is crucial.This retrospective cohort study aimed to characterize the microbiology and resistance patterns of moderate to severe neuropathic diabetic foot infection in patients hospitalized at a tertiary referral hospital between January 2020 and June 2023.

Capture-based targeted sequencing using a T-cell control in myeloid malignancies and idiopathic cytopenias.

We report on a study of next-generation sequencing in 257 patients undergoing investigations for cytopenias. We sequenced bone marrow aspirates using a target enrichment panel comprising 82 genes and used T cells from paired blood as a control. One hundred and sixty patients had idiopathic cytopenias, 81 had myeloid malignancies and 16 had lymphoid malignancies or other diagnoses.

Shrouded in history: Unveiling the ways of life of an early Muslim population in Santarém, Portugal (8th- 10th century AD).

In around 716 AD, the city of Santarém, Portugal, was conquered by the Berber and Arab armies that swept the Iberian Peninsula and went on to rule the region until the 12th century. Archaeological excavations in 2007/08 discovered an Islamic necropolis (Avenida 5 de Outubro #2-8) that appears to contain the remains of an early Muslim population in Santarém (8th- 10th century). In this study, skeletal material from 58 adult individuals was analysed for stable carbon (δ13Ccol; δ13Cap), nitrogen (δ15N) and sulphur (δ34S) isotope ratios in bones, and stable oxygen (δ18O), carbon (δ13Cen) and radiogenic strontium (87Sr/86Sr) isotopes in tooth enamel.

Psychosocial experiences of involuntary definitive childless women: a comparative study based on reproductive status.

Study Question: Do involuntary definitive childless women have lower psychosocial adjustment levels than women with infertility diagnoses actively trying to conceive and presumably fertile women?

Summary Answer: Involuntary definitive childless women have lower levels of sexual functioning than infertile women actively trying to conceive and presumably fertile women, and higher levels of depression than presumably fertile women.

What Is Known Already: Involuntary definitive childless defines those who wanted to become parents but were unable to do so. Studies have provided evidence about infertility and its psychosocial consequences, but there is a lack of knowledge about the impact of involuntary definitive childlessness, namely on sexual function, social support, marital satisfaction, and psychological adjustment.

Prediabetes remission after bariatric surgery: a 4-years follow-up study.

Background: Bariatric surgery leads to weight loss and to cardiometabolic risk improvement. Although prediabetes remission after bariatric surgery is biologically plausible, data on this topic is scarce. We aimed to assess prediabetes remission rate and clinical predictors of remission in a 4 year follow up period.

Hemothorax After Retroclavicular Approach to the Infraclavicular Region in a Critically Ill Patient: A Case Report.

The retroclavicular approach to the infraclavicular region (RAPTIR) is a recently described locoregional technique for upper limb analgesia that offers advantages over the classic infraclavicular block. RAPTIR is considered an effective and easy-to-perform block associated with few complications and better patient comfort. We present a case of a critically ill patient with thoracic and upper limb trauma.

Gender Dysphoria in a Patient With Ovotesticular Disorder of Sex Development.

Ovotesticular disorder of sex development (OT-DSD) is a rare condition characterized by the presence of both ovarian and testicular tissue in the gonads. Management and sex designation of these patients depend on several factors, and an underlying potential for gender dysphoria should be acknowledged. We present a case of a patient diagnosed with 46,XX OT-DSD at 12 months old who was attributed a female sex designation but started manifesting gender dysphoria during adolescence.

COVID-19 Lockdown and Impact on 2-Year Weight Loss in a Bariatric Center.

Introduction: The COVID-19 pandemic has led to a worldwide lockdown, which affected physical exercise habits, as well as having a detrimental effect on psychological health and follow-up visits of patients submitted to bariatric surgery. The aim of this study was to evaluate the impact of COVID-19 lockdown on the 2-year weight loss of patients submitted to bariatric surgery in our center.

Methods: This was an observational study comparing the weight loss of patients who underwent bariatric surgery from January to March 2020 with a control group submitted to surgery between January and March 2017.

Self-care guidelines for patients in the post-hematopoietic stem cell transplantation period: a scoping review.

Objective: To map the evidence on self-care guidelines for patients in the post-hematopoietic stem cell transplantation (HSCT) period.

Method: Scoping review supported by Joanna Briggs Institute recommendations, with searches conducted between March and April 2022 in national and international databases and repositories of theses and dissertations.

Results: Of the 11 studies that composed the final sample, the guidelines had a social and personal aspect, as post-transplant patients need to follow numerous essential recommendations for the prevention of infections and complications for successful treatment and improved quality of life.

Intracellular spatially-targeted chemical chaperones increase native state stability of mutant SOD1 barrel.

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder with currently no cure. Central to the cellular dysfunction associated with this fatal proteinopathy is the accumulation of unfolded/misfolded superoxide dismutase 1 (SOD1) in various subcellular locations. The molecular mechanism driving the formation of SOD1 aggregates is not fully understood but numerous studies suggest that aberrant aggregation escalates with folding instability of mutant apoSOD1.

Repercussions of the COVID-19 pandemic on Nursing training: A Scoping Review.

to map the knowledge produced about the repercussions imposed by the COVID-19 pandemic on Nursing training. this is a Scoping Review, guided by the recommendations set forth in the Joanna Briggs Institute Reviewer's Manual and carried out in 15 electronic databases and theses and dissertations repositories. The protocol was registered at the Open Science Framework.

Waist-to-Hip Ratio and Inflammatory Parameters Are Associated with Risk of Non-Alcoholic Fatty Liver Disease in Patients with Morbid Obesity.

Non-alcoholic fatty liver disease (NAFLD) is associated with several other metabolic disorders, which are typically pro-inflammatory states. Body fat content is an important marker of metabolic health and abdominal fat is associated with harmful cardiometabolic outcomes. We aimed to evaluate the association between the risk of NAFLD (through Fatty Liver Index (FLI), and BMI, AST/ALT ratio, and presence of diabetes (BARD)), and anthropometric parameters, predictors of metabolic status, in patients with morbid obesity, and to evaluate the association of FLI and BARD scores with pro-inflammatory markers.

Audiological biomarkers of tinnitus in an older Portuguese population.

Tinnitus is a phantom sound perceived in the absence of external acoustic stimulation. It is described in a variety of ways (e.g.

Factors driving sediment compositional change in the distal area of the Ria de Vigo (NW Spain): oceanographic processes vs. paleopollution.

We analyze potential Late Holocene metal contamination along a sediment core collected in the distal zone of Ria de Vigo (North Spain). Statistical treatment of the dataset based on a multiproxy approach enabled us to identify and disentangle factors influencing the depositional processes and the preservation of the records of this activity in the area over the last ≈3000 years BP. Some layers of the analyzed core have significant enrichment in Cu and a moderate enrichment in Ag, Mo, As, Sb, S, Zn, Ni, Sn, Cd, Cr, Co, Pb, and Li.

Early plasma biomarker dynamic profiles are associated with acute ischemic stroke outcomes.

Background: Early outcome prediction after acute ischemic stroke (AIS) might be improved with blood-based biomarkers. We investigated whether the longitudinal profile of a multi-marker panel could predict the outcome of successfully recanalized AIS patients.

Methods: We used ultrasensitive single-molecule array (Simoa) to measure glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), total-tau (t-tau) and ELISA for brevican in a prospective study of AIS patients with anterior circulation large vessel occlusion successfully submitted to thrombectomy.

Mental health, art, and deinstitutionalization: an aesthetic-poetic-theatrical account of the city's occupation.

This study aimed to report the experience of an aesthetic, poetic, and theatrical production of the city's occupation from a device of the Psychosocial Care Network to offer space for sociability, production, and cultural intervention. This is an account of an experience from the Social and Cultural Center (CECCO) in Natal, Rio Grande do Norte, Brazil, within madness and mental health deinstitutionalization. The intervention "The Little Prince occupies the Ribeira" was inspired by the work of author Saint-Exupéry.

[Pre-Exposure Prophylaxis for Human Immunodeficiency Virus in the Medical Curricula in Portugal: A Cross-Sectional Analysis].

Introduction: Pre-exposure prophylaxis (PrEP) has gained relevance as a method of prevention for HIV in certain people and settings. Following the publication of the guideline on PrEP prescribing in Portugal, we aimed to assess the knowledge of Portuguese Medical Students about PrEP.

Material And Methods: An online survey was sent to Medical students of Portuguese Medical Schools.

Sequestration of Proteins in Stress Granules Relies on the In-Cell but Not the Folding Stability.

Stress granules (SGs) are among the most studied membraneless organelles that form upon heat stress (HS) to sequester unfolded, misfolded, or aggregated protein, supporting protein quality control (PQC) clearance. The folding states that are primarily associated with SGs, as well as the function of the phase separated environment in adjusting the energy landscapes, remain unknown. Here, we investigate the association of superoxide dismutase 1 (SOD1) proteins with different folding stabilities and aggregation propensities with condensates in cells, and by simulation.

Hofmeister effects on protein stability are dependent on the nature of the unfolded state.

The interpretation of a salt's effect on protein stability traditionally discriminates low concentration regimes (<0.3 M), dominated by electrostatic forces, and high concentration regimes, generally described by ion-specific Hofmeister effects. However, increased theoretical and experimental studies have highlighted observations of the Hofmeister phenomena at concentration ranges as low as 0.