A 31-year-old woman developed unilateral endometriosis at the site of ovarian implantation to a uterine window. This complication of the Estes procedure resembles the experimental endometriosis induced in rhesus monkeys by causing intraabdominal menstruation. This adds support to the Sampson hypothesis of endometriosis development.
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The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
J Med Genet
September 2024
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
Background: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity.
Methods: We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment based on the observed variant frequencies in cases and controls. Binomial likelihoods are computed for two models, each defined by prespecified OR thresholds.
The riddle of response to cutaneous allergen exposure in patients with atopic dermatitis.
Ann Allergy Asthma Immunol
September 2024
Division of Allergy and Immunology, Department of Pediatrics, Jaffe Food Allergy Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:
The skin is the largest immunologic organ in the body and contains immune cells that play a role in both food allergen sensitization and desensitization. The dual allergen exposure hypothesis posits that sensitization to food allergens may occur with cutaneous exposure on inflamed skin, eg, atopic dermatitis, but early oral consumption generally leads to tolerance. However, only one-third of children with atopic dermatitis develop a food allergy, suggesting that there is a more complex mechanism for allergen sensitization.
View Article and Find Full Text PDFInflammation-stratified augmentation of vortioxetine with celecoxib: Results from a double-blind, randomized, placebo-controlled trial in major depressive disorder.
J Neurochem
September 2024
Department of Psychiatry, University Hospital Münster, University of Münster, Münster, Germany.
Low-grade inflammation is considered as a pathophysiological mechanism in a subtype of patients with major depressive disorder (MDD). Anti-inflammatory drugs have shown efficacy in treating MDD. However, it remains unclear how to identify suitable patients for anti-inflammatory treatment of depression.
View Article and Find Full Text PDFThe association of low birthweight and prematurity on outcomes in children and adults with nephrotic syndrome-a NEPTUNE cohort study.
Pediatr Nephrol
October 2023
Department of Pediatrics/Nephrology Bronx, Children's Hospital at Montefiore/Einstein, The Bronx, NY, USA.
Background: In single-center studies, both preterm birth and low birth weight (LBW) are associated with worse outcomes in childhood nephrotic syndrome. Using the Nephrotic Syndrome Study Network (NEPTUNE) observational cohort, we tested the hypothesis that in patients with nephrotic syndrome, hypertension, proteinuria status, and disease progression would be more prevalent and more severe in subjects with LBW and prematurity singly or in combination (LBW/prematurity).
Methods: Three hundred fifty-nine adults and children with focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD) and available birth history were included.
Exploring how family carers of a person with dementia manage pre-death grief: A mixed methods study.
Int J Geriatr Psychiatry
March 2023
Marie Curie Palliative Care Research Department, University College London, London, UK.
Objectives: Many family carers of a person with dementia experience pre-death grief. We aimed to identify strategies that help carers manage pre-death grief. We hypothesised that emotion and problem focussed styles would be associated with lower, and dysfunctional coping with higher grief intensity.
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