Alström syndrome: the journey to diagnosis.

Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.

Metagenomic characterization of oral microbiome signatures to predict upper gastrointestinal and pancreaticobiliary cancers: a case-control study.

Background: This study investigated the oral microbiome signatures associated with upper gastrointestinal (GI) and pancreaticobiliary cancers.

Methods: Saliva samples from cancer patients and age- and sex-matched healthy controls were analyzed using 16S rRNA-targeted sequencing, followed by comprehensive bioinformatics analysis.

Results: Significant dissimilarities in microbial composition were observed between cancer patients and controls across esophageal cancer (EC), gastric cancer (GC), biliary tract cancer (BC), and pancreatic cancer (PC) groups (R = 0.

Epidemiological Characteristics of HIV-Infected Individuals by the Registration for Special Exempted Calculation: A Nationwide Cohort Study.

Background: The Korean government is implementing policy to reduce medical costs and improve treatment related for human immunodeficiency virus (HIV) patients. The level of cost reduction and the benefits provided vary depending on how individuals with HIV utilize the system. This study aims to determine exact HIV prevalence by analyzing healthcare utilization patterns and examining differences in healthcare usage based on how individuals pay for their medical expenses.

COVID-19 Vaccination Recommendations for 2024-2025 in Korea.

The Korean Society of Infectious Diseases has been regularly publishing guidelines for adult immunization since 2007. Following the release of coronavirus disease 2019 (COVID-19) vaccination recommendations in 2023, significant changes have occurred due to the emergence of new variant strains and the waning immunity from previous vaccinations. This article provides a comprehensive update as of November 2024, incorporating the latest evidence and guidelines.

Transcanalicular laser-assisted and external dacryocystorhinostomy anatomical and functional success in primary acquired nasolacrimal duct obstruction: systematic review and meta-analysis.

Background: Primary acquired nasolacrimal duct obstruction (PANDO) is a condition in which tear ducts are blocked, leading to epiphora and dacryocystitis. This systematic review and meta-analysis aimed to measure the ability of transcanalicular dacryocystorhinostomy (TC-DCR) as an alternative approach to PANDO compared to traditional external dacryocystorhinostomy (EX-DCR).

Methods: Our search included Embase, Medline, and the Cochrane Central Register of Controlled Trials (CENTRAL).

Socioeconomic disparities in influenza vaccination uptake: impact of the COVID-19 pandemic in South Korea.

Background: This study aimed to investigate the sociodemographic and behavioral factors related to increased influenza vaccination uptake during the COVID-19 pandemic in South Korea, particularly among adults not eligible for free vaccination.

Methods: Analyzing data from 78,815 participants in the Korea National Health and Nutrition Examination Survey (2010-2021), we assessed trends in influenza vaccination coverage. Various sociodemographic factors, behavioral aspects, and psychological stress levels were assessed using multivariable logistic regression to evaluate the difference in vaccination response during pre-/post-COVID-19 periods.

Technical efficiency of public hospitals in east Africa: a systematic review and meta-analysis.

Background: Hospitals usually encounter human, capital, and financial resource constraints which alerts the efficient use of allocated resources more than ever. Health system managers are required to identify inefficient hospitals and the drivers of the inefficiencies. Although there are multiple studies examining the efficiency of public hospitals in East Africa, their findings are often variable and inconsistent.

Validation of the uncertainty stress scale-high-risk pregnancy - Chinese brief version: Rasch analysis.

Background: High-risk pregnancy leads to uncertainty and stress in pregnant women due to the threatened of mother and fetus health. The Uncertainty Stress Scale High-Risk Pregnancy Version, a 54-item Chinese version (USS-HRPV-C), has been widely used to assess the uncertainty and stress that women experience during pregnancy. However, the length of the scale may result in a burden for respondents.

The association of Helicobacter pylori infection with the risk of anemia in children: systematic review and meta-analysis.

Background: Children are among the most vulnerable groups for Helicobacter pylori (H. pylori) infection, which was linked with an increased risk of anemia. H.

The impact of age on comparative diagnostic accuracy of temporal artery thermometers and non-contact infrared thermometers for fever detection: a systematic review and meta-analysis.

Background: Non-invasive temporal artery thermometers (TATs) and non-contact infrared thermometers (NCITs) are increasingly used in community settings to measure body temperature. Existing research predominantly focuses on pediatric populations, yet the accuracy and precision of TATs and NCITs for fever screening across age groups remain unclear. This study aims to assess age-related differences in the diagnostic accuracy of TATs and NCITs for fever detection.

Potential mutagenicity of aflatoxin B1 in Egyptian spices.

The current study aimed to detect the mutagenic impacts of aflatoxin B1 (AFB1), which is produced by Aspergillus group fungi, via a high-plant genotoxicity test. Different durations of treatment (3 h, 6 h, and 12 h) were used to treat the Vicia faba root tips with varying concentrations of Aflatoxin B1 (AFB1) following the approved protocol for plant assays published by the International Program on Chemical Safety (IPCS) and the World Health Organization (WHO). The data obtained indicated that AFB1 not only has the ability to induce various alterations in the process of mitosis, ranging from increasing to decreasing mitotic and phase indices but also leads to many mitotic aberrations.

Dengue fever in Yemen: a five-year review, 2020-2024.

Background: Dengue fever (DF) is a mosquito-borne viral infection that has recently become a burden worldwide, particularly in low-income countries, such as Yemen. There have been no epidemiological studies on DF in recent years in Yemen. Therefore, based on secondary data, this study aimed to shed light on the epidemiology of DF in Yemen between 2020 and 2024.

Beyond symptom reduction: Veterans' goals for posttraumatic stress disorder treatment.

Despite a varied selection of available trauma-focused evidence-based psychotherapies (TF-EBPs) for posttraumatic stress disorder (PTSD), few veterans receive a full course of an evidence-based treatment. A better understanding of and alignment with veterans' PTSD treatment goals could be one way to improve treatment engagement and adherence, consistent with veteran-oriented care within the U.S.

Association Between Rurality and Race/Ethnicity and Pediatric Cancer Early Mortality: A Population-Based Cohort Study Using SEER Data from 2000 to 2021.

Background: Pediatric cancer mortality rates have steadily declined since 2009, but over a thousand deaths still occur annually. While existing research highlights the effects of race/ethnicity and rurality on overall survival, few studies have specifically analyzed these factors in relation to early mortality, defined as death within 12 months of diagnosis.

Procedure: This study utilized SEER Research Plus Limited-Field Data (2000-2021) to examine the association between race/ethnicity, rurality, and early mortality in pediatric cancer patients.

Weight change and cardiovascular disease incidence in breast cancer survivors: a nationwide cohort study.

Background: Breast cancer survivors (BCS) face a higher risk of cardiovascular disease (CVD) due to treatment-related cardiotoxicity and pre-existing conditions. We investigated how post-diagnosis weight changes and obesity impact CVD risk in this population.

Method: Using the Korean National Health Insurance Service database (2010-2019), BCS without previous history of CVD were enrolled.

A clinical audit of adverse post-nephrectomy outcomes in renal cell carcinoma patients at a tertiary hospital in Queensland, Australia.

Background: Renal cell carcinoma (RCC) is a common malignancy, and nephrectomy is the mainstay of treatment for non-metastatic disease. The choice of surgery depends on the risks of oncologic recurrence, kidney function decline, and perioperative complications. This study aimed to identify factors associated with adverse post-operative outcomes in RCC patients undergoing nephrectomy at Townsville University Hospital (TUH).

Excess mortality due to COVID-19 in Thailand between the pandemic and post-pandemic periods.

The coronavirus disease 2019 (COVID-19) pandemic had a significant effect on mortality rates worldwide, with Thailand being no exception. Gaining insights into the impact of pandemic-related mortality is essential for assessing its broader consequences on public health. This study aimed to analyze excess deaths during the pandemic (January 1, 2020-September 30, 2022) and post-pandemic period (October 2022-December 2023) at regional and national levels in Thailand.

Long-term correction of hemophilia A via integration of a functionally enhanced FVIII gene into the AAVS1 locus by nickase in patient-derived iPSCs.

Hemophilia A (HA) is caused by mutations in coagulation factor VIII (FVIII). Genome editing in conjunction with patient-derived induced pluripotent stem cells (iPSCs) is a promising cell therapy strategy, as it replaces dysfunctional proteins resulting from genetic mutations with normal proteins. However, the low expression level and short half-life of FVIII still remain significant limiting factors in the efficacy of these approaches in HA.

Role of P × receptor during focused ultrasound induced blood brain barrier modulation.

Although low-intensity focused ultrasound (LiFUS) with microbubbles is used to temporally open the blood-brain barrier (BBB), the underlying mechanism is not fully understood. This study aimed to analyze BBB-related alterations in the brain microenvironment after LiFUS, with a focus on the involvement of the purinergic P ×  receptor. Sprague-Dawley rats were sonicated with LiFUS at 0.

Cell free supernatants of Bifidobacterium adolescentis and Bifidobacterium longum suppress the tumor growth in colorectal cancer organoid model.

The probiotic gut microbiome and its metabolites are pivotal in regulating host metabolism, inflammation, and immunity. Host genetics, colonization at birth, the host lifestyle, and exposure to diseases and drugs determine microbial composition. Dysbiosis and disruption of homeostasis in the beneficial microbiome have been reported to be involved in the tumorigenesis and progression of colorectal cancer (CRC).

Subtype-specific prognostic impact of Bcl-2 in HER2-positive and HER2-negative breast cancer.

Bcl-2, a key regulator of cellular apoptosis, is typically linked to adverse prognosis in solid tumors due to its inhibition of apoptotic cell death and promotion of cellular proliferation, leading to tumor progression. However, studies on Bcl-2 in breast cancer have shown inconsistent results, with some indicating favorable outcomes. This study aims to determine the subtype-specific role of Bcl-2 in breast cancer.

Association between low fasting glucose of the living donor and risk of graft loss in the recipient after liver transplantation.

Several donor-specific factors influence the functional recovery and long-term outcomes of liver grafts. This study investigated the association between donor fasting glucose (DFG) and recipient outcomes after living donor liver transplantation (LDLT) in 950 cases at a single center. Patients were divided into two groups: low-DFG (< 85 mg/dL, n = 120) and control (≥ 85 mg/dL, n = 830).

Super-enhancer-driven SLCO4A1-AS1 is a new biomarker and a promising therapeutic target in glioblastoma.

Glioblastoma (GBM) is the most common intracranial malignancy, but current treatment options are limited. Super-enhancers (SEs) have been found to drive the expression of key oncogenes in GBM. However, the role of SE-associated long non-coding RNAs (lncRNAs) in GBM remains poorly understood.