Background: The impact of surgical specialization on long-term survival in patients undergoing emergent colon cancer resections remains unclear.
Method: A retrospective analysis was conducted on all patients who underwent emergent colon cancer resections at a secondary care hospital between 2010 and 2020. The most senior surgeon performing the procedures was classified as colorectal surgeon (CS) or non-colorectal surgeon (NCS).
Study Question: Does endometriosis affect the mental health of women using oral contraceptives?
Summary Answer: Among oral contraceptive users, women with endometriosis have a higher risk of depression compared to those without endometriosis, although the absolute risk increase is small.
What Is Known Already: Previous studies have suggested a potential link between endometriosis and mental health issues, but the impact of endometriosis on depression among oral contraceptive users remains unclear.
Study Design, Size, Duration: A secondary pooled cohort study utilizing data from two longitudinal patient-centric studies (INAS-VIPOS and PRO-E2) was conducted across 11 European countries, Colombia and Australia.
Objectives: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal disease that is challenging to detect at an early stage. Biomarkers are needed that can detect PDAC early in the course of disease when interventions lead to the best outcomes. We highlight study design and statistical considerations that inform pancreatic cancer early detection biomarker evaluation.
View Article and Find Full Text PDFMutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression delays disease progression and has recently been approved in the United States and the European Union. However, the discovery of children homozygous for inactivating SOD1 mutations developing the SOD1 Deficiency Syndrome (ISODDES) with injury to the motor system suggests that a too low SOD1 antioxidant activity may be deleterious in humans.
View Article and Find Full Text PDFGenomics Proteomics Bioinformatics
December 2024
An accurate assessment of p53's functional statuses is critical for cancer genomic medicine. However, there is a significant challenge in identifying tumors with non-mutational p53 inactivation which is not detectable through DNA sequencing. These undetected cases are often misclassified as p53-normal, leading to inaccurate prognosis and downstream association analyses.
View Article and Find Full Text PDFObjective: To investigate the effect of endometriosis on venous thromboembolism (VTE) in oral contraceptive (OC) users. Pooled analysis on a harmonized dataset compromising international patient-centric cohort studies: INAS-VIPOS, INAS-SCORE, and INAS-FOCUS. Eleven European countries, the United States, and Canada.
View Article and Find Full Text PDFAberrant activation of GLI transcription factors has been implicated in the pathogenesis of different tumor types including pancreatic ductal adenocarcinoma. However, the mechanistic link with established drivers of this disease remains in part elusive. In this study, using a new genetically engineered mouse model overexpressing constitutively active mouse form of GLI2 and a combination of genome-wide assays, we provide evidence of a novel mechanism underlying the interplay between KRAS, a major driver of pancreatic ductal adenocarcinoma development, and GLI2 to control oncogenic gene expression.
View Article and Find Full Text PDFCancer Epidemiol Biomarkers Prev
September 2024
Objective: To assess whether the use of assisted reproductive technology (ART) therapy for conception is associated with imprinting disorders in children and the impact of parental factors related to infertility.
Design: A nationwide register-based cohort study.
Setting: Swedish national registers and nationwide quality IVF register.
Importance: Premenstrual disorders (PMDs) adversely affect the quality of life of millions of women worldwide, yet research on the long-term consequences of PMDs is limited, and the risk of mortality has not been explored.
Objective: To estimate the associations of PMDs with overall and cause-specific mortality.
Design, Setting, And Participants: This nationwide, population-based, matched cohort study used data from population and health registers in Sweden.
Introduction: Accurate risk prediction can facilitate screening and early detection of pancreatic cancer (PC). We conducted a systematic review to critically evaluate effectiveness of machine learning (ML) and artificial intelligence (AI) techniques applied to electronic health records (EHR) for PC risk prediction.
Methods: Ovid MEDLINE(R), Ovid EMBASE, Ovid Cochrane Central Register of Controlled Trials, Ovid Cochrane Database of Systematic Reviews, Scopus, and Web of Science were searched for articles that utilized ML/AI techniques to predict PC, published between January 1, 2012, and February 1, 2024.
Metabolic dysfunction-associated steatotic liver disease (MASLD) has surpassed the hepatitis B virus and hepatitis C virus as the leading cause of chronic liver disease in most parts of the Western world. MASLD (formerly known as NAFLD) encompasses both simple steatosis and more aggressive metabolic dysfunction-associated steatohepatitis (MASH), which is accompanied by inflammation, fibrosis, and cirrhosis, and ultimately can lead to hepatocellular carcinoma (HCC). There are currently very few approved therapies for MASH.
View Article and Find Full Text PDFIntroduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically.
View Article and Find Full Text PDFBackground: Premenstrual disorders (PMDs) and perinatal depression (PND) share symptomology and the timing of symptoms of both conditions coincide with natural hormonal fluctuations, which may indicate a shared etiology. Yet, there is a notable absence of prospective data on the potential bidirectional association between these conditions, which is crucial for guiding clinical management. Using the Swedish nationwide registers with prospectively collected data, we aimed to investigate the bidirectional association between PMDs and PND.
View Article and Find Full Text PDFExposure to polycyclic aromatic hydrocarbons (PAHs), byproducts of incomplete combustion, and their effects on the development of cancer are still being evaluated. Recent studies have analyzed the relationship between PAHs and tobacco or dietary intake in the form of processed foods and smoked/well-done meats. This study aims to assess the association of a blood biomarker and metabolite of PAHs, -1,-2,3,-4-tetrahydroxy-1,2,3,4-tetrahydrophenanthrene (PheT), dietary intake, selected metabolism SNPs, and pancreatic cancer.
View Article and Find Full Text PDFObjective: To use machine learning methods to develop prediction models of pregnancy complications in women who conceived with assisted reproductive techniques (ART).
Design: A nation-wide register-based cohort study with prospectively collected data.
Setting: Swedish national registers and nationwide quality IVF register.
Background And Objective: To assess the effect of surgeon sex on short- and long-term outcomes after colon cancer resections.
Methods: Clinical data of patients who underwent colon cancer resections between 2010 and 2020 at Helsingborg Hospital, Sweden, were retrospectively obtained from medical records. The sex of the surgeon of each procedure was recorded.
Objective: To investigate fetal growth trajectories and risks of small and large for gestational age (SGA and LGA), and macrosomia in pregnancies after fresh and frozen embryo transfer (ET), and natural conception (NC).
Design: Longitudinal population-based cohort study.
Setting: Swedish national registers.
Background: Worldwide, an increasing number of women with cancer are receiving Gonadotropin Releasing Hormone agonist (GnRHa) co-treatment during chemotherapy aiming at ovarian protection. There is divergence among guidelines, and some have recommended GnRHa co-treatment for women with breast cancer, however, the effect of GnRHa on future fertility is uncertain.
Methods: In this population-based cohort study we included all women diagnosed with cancer at ages 15-45 between July 2005 and March 2017 in Sweden, identified in the Swedish Cancer Register.
Objective: To determine whether women with perinatal depression are at an increased risk of death compared with women who did not develop the disorder, and compared with full sisters.
Design: Nationwide, register based study.
Setting: Swedish national registers, 1 January 2001 to 31 December 2018.
Background: The association between assisted reproductive technologies (ARTs) and the body mass index (BMI) of children remains controversial. Confounding by morbidity and other factors associated with parental infertility may have biased studies comparing children born after ART with children born after no treatment. We investigated the associations between different fertility treatments and BMI in children at age 5 to 8 years, adjusting for and stratifying by causes of parental infertility.
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