Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.

Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.

Metabolic adaptations to acute glucose uptake inhibition converge upon mitochondrial respiration for leukemia cell survival.

One hallmark of cancer is the upregulation and dependency on glucose metabolism to fuel macromolecule biosynthesis and rapid proliferation. Despite significant pre-clinical effort to exploit this pathway, additional mechanistic insights are necessary to prioritize the diversity of metabolic adaptations upon acute loss of glucose metabolism. Here, we investigated a potent small molecule inhibitor to Class I glucose transporters, KL-11743, using glycolytic leukemia cell lines and patient-based model systems.

The feasibility of assessing prognosis over 3 years in persons with a previous stroke/transient ischemic attack in general practice.

Background: Stroke has devastating consequences for survivors. Hypertension is the most important modifiable risk factor, and its management largely takes place in primary care. However, most stroke-based research does not occur in this setting.

Sperm DNA fragmentation index: limited effectiveness on predicting embryo quality in assisted reproduction technology treatments.

Purpose: Prior sperm DNA fragmentation index (DFI) thresholds for diagnosing male infertility and predicting assisted reproduction technology (ART) outcomes fluctuated between 15 and 30%, with no agreed standard. This study aimed to evaluate the impact of the sperm DFI on early embryonic development during ART treatments and establish appropriate DFI cut-off values.

Methods: Retrospectively analyzed 913 couple's ART cycles from 2021 to 2022, encompassing 1,476 IVF and 295 ICSI cycles, following strict criteria.

Review of upper extremity passive joint impedance identification in people with Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.

Repression of PFKFB3 sensitizes ovarian cancer to PARP inhibitors by impairing homologous recombination repair.

Background: Ovarian cancer (OC), particularly high-grade serous ovarian carcinoma (HGSOC), is the leading cause of mortality from gynecological malignancies worldwide. Despite the initial effectiveness of treatment, acquired resistance to poly(ADP-ribose) polymerase inhibitors (PARPis) represents a major challenge for the clinical management of HGSOC, highlighting the necessity for the development of novel therapeutic strategies. This study investigated the role of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (PFKFB3), a pivotal regulator of glycolysis, in PARPi resistance and explored its potential as a therapeutic target to overcome PARPi resistance.

Specialized pediatric palliative care in Italy: where are we going? The Palliped 2022-2023 study.

Background: The PalliPed project is a nationwide, observational, cross-sectional study designed with the aim of providing a constantly updated national database for the census and monitoring of specialized pediatric palliative care (PPC) activities in Italy. This paper presents the results of the first monitoring phase of the PalliPed project, which was developed through the PalliPed 2022-2023 study, to update current knowledge on the provision of specialized PPC services in Italy.

Methods: Italian specialized PPC centers/facilities were invited to participate and asked to complete a self-reporting, ad-hoc, online survey regarding their clinical activity in 2022-2023, in the revision of the data initially collected in the first PalliPed study of 2021.

Guillain-Barré syndrome following falciparum malaria infection: a case report.

Background: Malaria is an infectious disease caused by Plasmodium parasites, transmitted to humans by infected female Anopheles mosquitoes. Five Plasmodium species infect humans: P. vivax, P.

Correlations between spinopelvic parameters and health-related quality of life in degenerative lumbar scoliosis patients before and after long -level fusion surgery.

Background: For degenerative lumbar scoliosis (DLS), prior studies mainly focused on the preoperative relationship between spinopelvic parameters and health-related quality of life (HRQoL), lacking an exhaustive evaluation of the postoperative situation. Therefore, the postoperative parameters most closely bonded with clinical outcomes has not yet been well-defined in DLS patients. The objective of this study was to comprehensively assess the correlation between radiographic parameters and HRQoL before and after surgery, and to identified the most valuable spinopelvic parameters for postoperative curative effect.

Neutrophil-to-lymphocyte ratio and short-term mortality in patients having anti-MDA5-positive dermatomyositis with interstitial lung disease: a retrospective study.

Background: In this study, we aimed to explore the association between baseline and early changes in the neutrophil-to-lymphocyte ratio (NLR) and the 30-day mortality rate in patients having anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis with interstitial lung disease (DM-ILD).

Methods: Overall, 263 patients with anti-MDA5 DM-ILD from four centers in China were analyzed. Multivariate logistic regression analysis was used to evaluate the impact of baseline NLR on the 30-day mortality rate in patients with anti-MDA5-positive DM-ILD.

Warrick score in rheumatoid-arthritis interstitial lung disease: a promising tool for assessing the extent and progression of lung involvement.

Background: The clinical manifestations and course of rheumatoid arthritis-associated interstitial lung disease (RA-ILD) exhibits considerable heterogeneity. In this study, we aimed to explore radiographic progression over a defined period, employing the Warrick score as a semi-quantitative measure in early RA-ILD, and to assess the associated risk factors for progression.

Methods: RA-ILD patients underwent consecutive Warrick scoring based on initial high-resolution computed tomography (HRCT) at diagnosis and the first follow-up.

Expansion of medical school admission quotas in Korea, is it really necessary?

Background: In 2024, the Korean Ministry of Health and Welfare enforced a policy to increase the number of medical school students by 2,000 over the next 5 years, despite opposition from doctors. This study aims to predict the trend of excess or shortage of medical personnel in Korea due to the policy of increasing the number of medical school students by 2035.

Methods: Data from multiple sources, including the Ministry of Health and Welfare, National Health Insurance Corporation, and the Korean Medical Association, were used to estimate supply and demand.

Improving preparedness for time critical prehospital care: a descriptive study of the first responder system in Central Norway.

Background: First responders exist in several countries and have been a prehospital emergency medical resource in Norwegian municipalities since 2010. However, the Norwegian system has not yet been studied. The aim of this study was to describe the first responder system in Central Norway and how it is used as a supplement to emergency medical services (EMS).

Posteromedial opening wedge high tibial osteotomy has favourable outcomes in simultaneous medial meniscus posterior root repair and varus medial knee osteoarthritis patients without concomitant root tear.

Purpose: To evaluate the radiological and clinical outcomes in two patient groups: first, varus aligned medial meniscus posterior root tear (MMPRT) patients who underwent posteromedial open wedge high tibial osteotomy (PMOWHTO) and simultaneous root repair; second, patients with varus medial knee osteoarthritis without MMPRT who underwent PMOWHTO.

Methods: Patients had MMPRT repair concomitant with PMOWHTO and varus medial knee osteoarthritis without concomitant root tear patients who underwent PMOWHTO and were reviewed. Radiographic parameters, medial meniscus extrusion (MME) and Knee Society Scores [KSSs, including the following subscores: knee score (KS) and knee function score (KFS)] were evaluated.

Biochanin a modulates steroidogenesis and cellular metabolism in human granulosa cells through TAS2Rs activation: a spotlight on ovarian function.

Background: Endocrine-disrupting chemicals (EDCs) interfere with the endocrine system and negatively impact reproductive health. Biochanin A (BCA), an isoflavone with anti-inflammatory and estrogen-like properties, has been identified as one such EDC. This study investigates the effects of BCA on transcription, metabolism, and hormone regulation in primary human granulosa cells (GCs), with a specific focus on the activation of bitter taste receptors (TAS2Rs).

Lay views in Southern France of the acceptability of refusing to provide treatment because of alleged futility.

Aim: To carry out a detailed study of existing positions in the French public of the acceptability of refusing treatment because of alleged futility, and to try to link these to people's age, gender, and religious practice.

Method: 248 lay participants living in southern France were presented with 16 brief vignettes depicting a cancer patient at the end of life who asks his doctor to administer a new cancer treatment he has heard about. Considering that this treatment is futile in the patient's case, the doctor refuses to prescribe it.

Diagnosis of lung cancer using salivary miRNAs expression and clinical characteristics.

Objective: Lung cancer (LC), the primary cause for cancer-related death globally is a diverse illness with various characteristics. Saliva is a readily available biofluid and a rich source of miRNA. It can be collected non-invasively as well as transported and stored easily.

Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.

Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.

Estimates and trends in death and disability from atrial fibrillation/atrial flutter due to high sodium intake, China, 1990 to 2019.

Objective: The effect of sodium intake on atrial fibrillation (AF)/atrial flutter (AFL), with respect to sex and age, has yet to be elucidated. This study aims to compare long-term trends in AF/AFL death and disability due to high sodium intake in China from 1990 to 2019.

Methods: We utilized data from the Global Burden of Disease study to assess the mortality and disability burden of AF/AFL attributable to high sodium intake (> 5 g/d) in China from 1990 to 2019.

Reticulocyte hemoglobin content: a new frontier in iron deficiency diagnostics for major surgical patients.

Background: Iron deficiency (ID) is the most common nutritional deficiency among patients undergoing major surgery. Treatment of ID is straightforward, however implementing a comprehensive anemia management strategy within clinical routines is complex. Recently, reticulocyte hemoglobin content (Ret-He) has been evaluated as an early marker for ID diagnosis.

Health extension workers job satisfaction and associated factors in Ethiopia: a systematic review and meta-analysis.

Background: Ethiopian healthcare relies heavily on Health Extension Workers (HEWs), who deliver essential services to communities nationwide. By analyzing existing research, the authors explore how prevalent job satisfaction is and what factors affect it. This comprehensive analysis aims to improve HEW satisfaction through targeted interventions, ultimately leading to a more effective healthcare workforce and better health outcomes in Ethiopia.

Distress and coping mechanisms among people with diabetes: cross-sectional assessment from an NCD screening clinic of a tertiary care hospital in North India.

Background: Of the numerous complications encountered by people with diabetes (PWD), the effect on mental health is concerning. Within mental health, diabetes distress (DD) occurs when a patient has unfavourable emotional stress while managing their condition, which can be managed by coping strategies but are less studied together in Indian settings. So, the present study aimed to determine the proportion of DD and associated factors and coping skills among the PWD.

Blood-based epigenome-wide association study and prediction of alcohol consumption.

Alcohol consumption is an important risk factor for multiple diseases. It is typically assessed via self-report, which is open to measurement error through recall bias. Instead, molecular data such as blood-based DNA methylation (DNAm) could be used to derive a more objective measure of alcohol consumption by incorporating information from cytosine-phosphate-guanine (CpG) sites known to be linked to the trait.

Depression symptom severity and behavioral impairment in school-going adolescents in Uganda.

Background: During adolescence, a critical developmental phase, cognitive, psychological, and social states interact with the environment to influence behaviors like decision-making and social interactions. Depressive symptoms are more prevalent in adolescents than in other age groups which may affect socio-emotional and behavioral development including academic achievement. Here, we determined the association between depression symptom severity and behavioral impairment among adolescents enrolled in secondary schools of Eastern and Central Uganda.

Predicting early diagnosis of intensive care unit-acquired weakness in septic patients using critical ultrasound and biological markers.

Objective: Early diagnosis of intensive care unit-acquired weakness (ICUAW) is crucial for improving the outcomes of critically ill patients. Hence, this study was designed to identify predisposing factors for ICUAW and establish a predictive model for the early diagnosis of ICUAW.

Methods: This prospective observational multicenter study included septic patients from the comprehensive ICUs of West China Hospital of Sichuan University and 10 other hospitals between September and November 2023.