Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).

Anticancer benzimidazole derivatives as inhibitors of epigenetic targets: a review article.

Cancer is one of the leading causes of morbidity and mortality worldwide. One of the primary causes of cancer development and progression is epigenetic dysregulation, which is a heritable modification that alters gene expression without changing the DNA sequence. Therefore, targeting these epigenetic changes has emerged as a promising therapeutic strategy.

Survival and quality of life after first-time diagnosis of brain metastases: a multicenter, prospective, observational study.

Background: A major concern in anticancer treatment (ACT) of brain metastases (BM) is exposing patients with short expected survival to treatments that negatively impact on quality of life (QoL). Such futile ACT at the end of life is time-consuming and burdensome for patients and their families and entails unnecessary healthcare costs. Refraining from ACT is challenging for both physicians and patients.

Do national cancer control plans address care and research for children, adolescents, and young adults? A review of status, priorities, and recommendations across 41 European countries.

Paediatric cancers, although rare, are the leading cause of disease-related mortality in European children above one year. A key pillar of the European Health Union, Europe's Beating Cancer Plan (EBCP) puts a spotlight on childhood cancer. National Cancer Control Plans (NCCPs) have a key role but did not address childhood cancers sufficiently previously.

Creating a national breastfeeding and lactation policy for Canadian surgical residents.

Background: Despite known benefits of breastfeeding and challenges medical trainees face lactating at work, research specific to Canadian surgical trainees is lacking. Our objectives were to examine existing breastfeeding and lactation policies, query experiences and opinions of surgical trainees and program directors, and propose a comprehensive policy for programs nation-wide.

Methods: A multi-disciplinary team developed this two-part study.

A case study: exploring the impact of 3D printed models on cognitive integration during clinical skills training.

Background: Cognitive integration occurs when trainees make conceptual connections between relevant knowledges and is known to improve learning. While several experimental studies have demonstrated how text and audio-visual instruction can be designed to enhance cognitive integration, clinical skills training in real-world contexts may require alternative educational strategies. Introducing three-dimensional (3D) printed models during clinical skills instruction may offer unique learning opportunities to support cognitive integration.

Evaluating the Podcast as an Equity, Diversity and Inclusion resource: a cross-sectional survey analysis.

Background: Equity-deserving groups are communities marginalized from institutional power by oppressive forces (e.g., racism, sexism, homophobia, ableism).

Resident perceptions of learning challenges in concussion care education.

Background: Resident-focused curricula that support competency acquisition in concussion care are currently lacking. We sought to fill this gap by developing and evaluating Spiral Integrated Curricula (SIC) using the cognitive constructivism paradigm and the Utilization-Focused Evaluation (UFE) framework. The evidence-based curricula consisted of academic half-days (AHDs) and clinics for first- and second-year family medicine residents.

Unveiling the enigma of spontaneous cervical swelling syndrome: A case report.

Spontaneous cervical swelling syndrome is an uncommon clinical syndrome characterized by the sudden onset of swelling in the cervical region with no identifiable cause. A 47-year-old woman with a history of Iron Deficiency Anemia presented to the emergency department (ED) complaining of an acute left neck and upper chest swelling and pressure sensation in her neck. The swelling started suddenly and was growing rapidly over several hours.

Pleomorphic adenoma of the parapharyngeal space.

Pleomorphic adenoma of the parapharyngeal space is a rare benign tumor, representing less than 1% of tumors of the parapharyngeal space. Considering the volume of the tumor, the complexity of the space and the potential difficulties of excision, an imaging work-up including at least computed tomography (CT) and/or magnetic resonance imaging (MRI), and possibly analysis of the vascular axes (angio-MRI, arteriography) is essential. Treatment of these tumors is essentially surgical.

Tracheal adenoid cystic carcinoma presenting as a locally advanced thyroid gland carcinoma.

Tracheal adenoid cystic carcinoma is a rare malignancy. We report the case of a 65-year-old male who presented to our department due to a 3-month history of mild dysphagia without other associated symptoms. The neck, laryngeal, and hypopharyngeal examinations were normal.

Central nervous system involvement in Whipple's disease: Report of a rare pathological entity and comparative review of treatment strategies and outcomes.

Whipple's disease, caused by the gram-positive actinomycete , is a rare chronic systemic illness with significant diagnostic and therapeutic challenges, particularly when the CNS is involved. This case report details a 46-year-old man presenting with a constellation of symptoms including fatigue, hypersomnia, weight loss, bifrontal headaches, abdominal pain, treatment-unresponsive diarrhea, and skin hyperpigmentation. Neurological examination revealed oculomasticatory myorhythmia, and imaging studies showed nodular enhancement of the hypothalamus and basal ganglia, along with retroperitoneal lymphadenopathy.

Integrated analysis of non‑coding RNAs (HOTAIR and miR‑130a) and their cross‑talk with TGF‑β1, SIRT1 and E‑cadherin as potential biomarkers in colorectal cancer.

Molecular changes have a substantial impact on the onset of colorectal cancer (CRC). Complexes of HOTAIR and miRNAs disrupt several cellular functions during carcinogenesis, primarily by disrupting several carcinogenic signaling pathways. In the present study, the relationships between the serum levels of transforming growth factor-β1 (TGF-β1), sirtuin-1 (SIRT1) and E-cadherin and those of HOX transcript antisense intergenic RNA (HOTAIR) and microRNA-130a (miR-130a) in individuals with CRC were analyzed, including their correlations and diagnostic potential.

Autonomy support in prenatal consultation: A quantitative observation study in maternity care.

Introduction: Maternity care professionals need to guide women through an increasing number of decision-making processes during pregnancy. Professionals tend to focus more on providing information than on decision support. According to the self-determination theory (SDT), professionals could help women make their own choices by fulfilling their three basic psychological needs: autonomy, competence, and relatedness through autonomy-supportive interactions.

Critical Steps in Shotgun Metagenomics-Based Diagnosis of Bloodstream Infections Using Nanopore Sequencing.

Shotgun metagenomics offers a broad detection of pathogens for rapid blood stream infection of pathogens but struggles with often low numbers of pathogens combined with high levels of human background DNA in clinical samples. This study aimed to develop a shotgun metagenomics protocol using blood spiked with various bacteria and to assess bacterial DNA extraction efficiency with human DNA depletion. The Blood Pathogen Kit (Molzym) was used to extract DNA from EDTA-whole blood (WB) and plasma samples, using contrived blood specimens spiked with bacteria for shotgun metagenomics diagnostics via Oxford Nanopore sequencing and PCR-based library preparation.

The Landscape of Experimental Cardiac Arrest Research Models in Rats: A Bibliometric Analysis of the 100 Most Cited Articles.

This study aimed to conduct a bibliometric analysis of the 100 most cited articles on experimental cardiac arrest models in rats, identifying key contributors, publication trends, research themes, and collaboration networks. A comprehensive literature search was performed on the Web of Science (WoS) database on June 11, 2024, using keywords related to cardiac arrest and rat models. The top 100 most cited articles were analyzed using the Biblioshiny web application from the Bibliometrix R package (version 4.

Zerumbone Induces Apoptosis in Non-Small-Cell Lung Cancer via Biomolecular Alterations: A Microscopic and Spectroscopic Study.

Zerumbone is a sesquiterpene phytochemical with cytotoxic activity against cancer. This study aimed to evaluate the effect of zerumbone on cell viability by WST-1 test, apoptosis by TUNEL, lipid peroxidation markers (malondialdehyde, MDA, and 4-hydroxynonenal, HNE) by using assay kits, and biomolecular changes by ATR-FTIR spectroscopy in A549 cells. After zerumbone (0-100 μM) incubation for 24, 48, and 72 h, the number of TUNEL-positive cells was found to be higher in zerumbone-treated cells than in controls, in consistent with cell morphology results.

Accuracy of Guided Dual Technique in Esthetic Crown Lengthening: A Prospective Case-Series Study.

Objective: This study aimed to evaluate the efficacy and safety of a digitally guided dual technique during esthetic crown lengthening surgery. In addition, patient satisfaction and patient-reported outcomes were assessed.

Materials And Methods: A prospective case series study was conducted.

The Type III Secretion System (T3SS) of Escherichia Coli Promotes Atherosclerosis in Type 2 Diabetes Mellitus.

Large-scale studies indicate a strong relationship between the gut microbiome, type 2 diabetes mellitus (T2DM), and atherosclerotic cardiovascular disease (ASCVD). Here, a higher abundance of the type III secretion system (T3SS) virulence factors of Enterobacteriaceae/Escherichia-Shigella in patients with T2DM-related-ASCVD, which correlates with their atherosclerotic stenosis is reported. Overexpression of T3SS via Citrobacter rodentium (CR) infection in Apoe-/- T2DM mice exacerbated atherosclerotic lesion formation and increased gut permeability.

Iron deficiency and infection risk in Danish blood donors.

Background: We aimed to investigate if iron deficiency was associated with infection susceptibility in a large cohort of healthy individuals.

Study Design And Methods: The Danish Blood Donor Study is a national ongoing prospective study of blood donors. We included 94,628 donors with 338,290 ferritin measurements from March 2010 to October 2022.

Cognition, physical function and life purpose in the rural elderly population: a systematic review.

Introduction: Aging in rural areas is challenging and has very specific characteristics in the way these elderly people live their old age, from the perspectives of cognition, functionality and life purpose. There is a lack of information and data in the literature on how people age in rural areas around the world. The aim of this study was to identify and describe how people age in rural areas, focusing on the following domains: cognition, physical function/functionality and life purpose.