Liver transplantation in glycogen storage disease type III: A case-series.

Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo-1,6-glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood. Hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are common complications in older patients.

Community-Based Participatory Research to Address the Disproportionate Burden of Breast Cancer in Black Women.

Objective: Black/African American women with breast cancer have disproportionately higher mortality rates and report experiencing a lower quality of life during survivorship compared to non-Hispanic white women. Despite support for the integration of peer navigation in cancer care and survivorship to address these inequities, Black/African American women often have limited access to culturally tailored peer navigation programs. We aimed to investigate the unique needs and strengths of Black/African American women with breast cancer and survivors to inform the development of a culturally tailored peer navigation program for Black/African American women.

Comparison of Vendor-Pretrained and Custom-Trained Deep Learning Segmentation Models for Head-and-Neck, Breast, and Prostate Cancers.

Background/objectives: We assessed the influence of local patients and clinical characteristics on the performance of commercial deep learning (DL) segmentation models for head-and-neck (HN), breast, and prostate cancers.

Methods: Clinical computed tomography (CT) scans and clinically approved contours of 210 patients (53 HN, 49 left breast, 55 right breast, and 53 prostate cancer) were used to train and validate segmentation models integrated within a vendor-supplied DL training toolkit and to assess the performance of both vendor-pretrained and custom-trained models. Four custom models (HN, left breast, right breast, and prostate) were trained and validated with 30 (training)/5 (validation) HN, 34/5 left breast, 39/5 right breast, and 30/5 prostate patients to auto-segment a total of 24 organs at risk (OARs).

Meaningful Patient Participation in Health Care Education: A Theoretically Informed Study Exploring Boundaries and Identities.

Purpose: After recent policy and practice changes, health care schools are expected to involve patients as partners in the management, design, and delivery of professional curricula. However, what these partnerships mean for academic communities and the processes needed to support them are not yet understood. This study examines what involving patients as partners within an academic community means for key stakeholders.

Primary hyperparathyroidism in patients with thyroid cancer: prevalence and prognosis in a retrospective monocentric study.

Purpose: Primary hyperparathyroidism (PHPT) is associated with long-term implications on many aspects of general health and has been linked to various tumor types. This retrospective monocentric study aimed to evaluate the prevalence of primary hyperparathyroidism in a cohort of thyroid cancer patients and its impact on their general prognosis.

Methods: The prevalence of primary hyperparathyroidism (concomitant or subsequent) was retrospectively evaluated in a cohort of 450 patients with a diagnosis of differentiated thyroid cancer.

Automatic cleaning in acoustic ejection mass spectrometry: Enhancing the system robustness for large-scale high-throughput analysis of complex samples.

The rapid evolution of high-throughput mass spectrometry (HT-MS) technologies has positioned MS as a pivotal analytical tool across diverse disciplines. Its significance is particularly pronounced in high-throughput drug discovery and development, where MS plays a critical role throughout various phases. Acoustic ejection mass spectrometry (AEMS) is a recent addition to the HT-MS landscape, showcasing a balanced performance high analytical throughput and high data quality.

Developing forebrain synapses are uniquely vulnerable to sleep loss.

Sleep is an essential behavior that supports lifelong brain health and cognition. Neuronal synapses are a major target for restorative sleep function and a locus of dysfunction in response to sleep deprivation (SD). Synapse density is highly dynamic during development, becoming stabilized with maturation to adulthood, suggesting sleep exerts distinct synaptic functions between development and adulthood.

Is it worth it? A comparison study of medical students' aspirations for gaining the Health Care Certificate following employment as Healthcare Assistants.

Background: Medical students seek early patient contact but their curriculum starts with scientific knowledge. We integrated the Healthcare Assistant (HCA) course into semester one for early patient-facing clinical contact. This study compares students' aspirations for this learning with the realities of employed work as HCAs.

From Athlete to Surgeon: Examining Sports and Grit Among General Surgery Residents.

Objective: The transition of Step 1 to pass/fail has generated concerns over selecting promising candidates. Holistic reviews integrate other proficiencies, including extracurriculars such as sports. Grit - defined as perseverance and passion for long-term goals - has been positively associated with competitive activities and is predictive of academic success.

Reflecting on the Spectrum of Involvement: How do we involve patients as partners in education?

Background: The Spectrum of Involvement describes six levels of active patient involvement in healthcare education. Only at the highest levels are patients described as 'equal partners'. Although this framework was never intended to be hierarchical, healthcare educators continue to strive towards aspirations for involving patients as 'equal partners' in education.

Landmark-based auto-contouring of clinical target volumes for radiotherapy of nasopharyngeal cancer.

Background: The delineation of clinical target volumes (CTVs) for radiotherapy for nasopharyngeal cancer is complex and varies based on the location and extent of disease.

Purpose: The current study aimed to develop an auto-contouring solution following one protocol guidelines (NRG-HN001) that can be adjusted to meet other guidelines, such as RTOG-0225 and the 2018 International guidelines.

Methods: The study used 2-channel 3-dimensional U-Net and nnU-Net framework to auto-contour 27 normal structures in the head and neck (H&N) region that are used to define CTVs in the protocol.

Phylogenetic inference of inter-population transmission rates for infectious diseases.

Estimating transmission rates is a challenging yet essential aspect of comprehending and controlling the spread of infectious diseases. Various methods exist for estimating transmission rates, each with distinct assumptions, data needs, and constraints. This study introduces a novel phylogenetic approach called transRate, which integrates genetic information with traditional epidemiological approaches to estimate inter-population transmission rates.

Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test.

Summary: The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history.

Raising professionalism concerns as a medical student: damned if they do, damned if they don't?

Background: Understanding professionalism is an essential component of becoming a doctor in order to ensure the trust of patients and wider society. Integrally linked to the concept of professionalism is the importance of identifying and raising concerns to ensure high quality, safe patient care. It is recognised that medical students are uniquely placed to identify and report concerns given their frequent rotations through multiple clinical placements and their peer relationships and, in so doing, develop and enact their own medical professionalism.

Towards an empathic hidden curriculum in medical school: A roadmap.

The "hidden curriculum" in medical school includes a stressful work environment, un-empathic role models, and prioritisation of biomedical knowledge. It can provoke anxiety and cause medical students to adapt by becoming cynical, distanced and less empathic. Lower empathy, in turn, has been shown to harm patients as well as practitioners.

Looking for a needle in a haystack: de novo phenotypic target identification reveals Hippo pathway-mediated miR-202 regulation of egg production.

Understanding microRNA (miRNA) functions has been hampered by major difficulties in identifying their biological target(s). Currently, the main limitation is the lack of a suitable strategy to identify biologically relevant targets among a high number of putative targets. Here we provide a proof of concept of successful de novo (i.

'It's a gamble': A phenomenological exploration of medical students' learning experiences as newcomers to clinical communities of practice.

Background: Medical students become members of the clinical team through participation in their activities, as described by Lave and Wenger's situated learning theory. While there is research into how medical students cognitively engage in clinical learning, there is limited work on clinical experiences using a social theoretical lens such as situated learning theory.

Method: This study explored third year medical students' lived experience as newcomers to clinical teams using a qualitative phenomenological approach.