Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA oncology"
DOI: 10.1001/jamaoncol.2023.0806
Abstract: Importance Increased cancer risk in first-degree relatives of probands with pancreatic ductal adenocarcinoma (PDAC probands) who carry pathogenic or likely pathogenic germline variants (PGVs) in cancer syndrome-associated genes encourages cascade genetic testing. To date, unbiased… read more here.
Keywords: pdac probands; syndrome associated; degree relatives; first degree ... See more keywords
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24332
Abstract: PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder… read more here.
Keywords: neurodevelopmental syndrome; pax5 haploinsufficiency; delineation novel; syndrome associated ... See more keywords
22q11.2 Deletion Syndrome–Associated Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12687
Abstract: 22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early‐onset Parkinson's disease (PD). read more here.
Keywords: syndrome associated; deletion syndrome; 22q11 deletion; parkinson disease ... See more keywords
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Nephrology"
DOI: 10.1007/s00467-018-3919-1
Abstract: 1. Hyperlipidemia is a characteristic feature of nephrotic syndrome (NS) with elevation of serum cholesterol and triglycerides (TG) [1]. However, due to the exceptionally high levels of serum TG (more than 2000 mg/dl), we further… read more here.
Keywords: syndrome associated; nephrotic syndrome; hypertriglyceridemia; deficiency ... See more keywords
The metabolic syndrome is associated with the risk of urothelial carcinoma from a health examination database
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Clinical Oncology"
DOI: 10.1007/s10147-020-01834-3
Abstract: The metabolic syndrome was associated with bladder cancer in the previous studies. However, there have no large-scale cohort studies to elucidate the relationship between metabolic syndromes and urothelial carcinoma including urinary bladder urothelial carcinoma (UBUC)… read more here.
Keywords: syndrome associated; urothelial carcinoma; risk; metabolic syndrome ... See more keywords
Anti-phospholipid syndrome associated with schizophrenia description of five patients and review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "Immunologic Research"
DOI: 10.1007/s12026-017-8895-1
Abstract: Anti-phospholipid syndrome is an autoimmune disorder characterized by anti-phospholipid antibodies, arterial and venous thrombosis, pregnancy morbidity, and various neurological manifestations including psychiatric disorders. Higher incidence of various autoimmune disorders was found in schizophrenia. In addition,… read more here.
Keywords: syndrome associated; associated schizophrenia; five patients; anti phospholipid ... See more keywords
Hypocomplementemic urticarial vasculitis syndrome associated with rapidly progressive glomerulonephritis: lessons for the clinical nephrologist
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Nephrology"
DOI: 10.1007/s40620-020-00942-7
Abstract: A 34year-old Hispanic woman with a past medical history of obesity presented with a 2-day history of epigastric abdominal pain accompanied by nausea and vomiting, arthralgias, periorbital edema and a flat, erythematous, pruritic bilateral rash… read more here.
Keywords: syndrome associated; creatinine; hypocomplementemic urticarial; vasculitis syndrome ... See more keywords
Subcutaneous Sweet’s syndrome associated with the onset of Behcet’s disease
Sign Up to like & getrecommendations! Published in 2021 at "Anais Brasileiros de Dermatologia"
DOI: 10.1016/j.abd.2020.07.021
Abstract: weet Syndrome (SS) is the most frequent of neutrophilic ermatoses.1 Some rare variants have been described, uch as subcutaneous SS, which clinically usually presents ith inflammatory nodules similar to erythema nodosum.1,2 ehçet’s Disease (BD) is… read more here.
Keywords: syndrome associated; sweet syndrome; disease; onset behcet ... See more keywords
Distinct clinical and genetic mutation characteristics in sporadic and Lynch syndrome-associated endometrial cancer in a Chinese population.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer epidemiology"
DOI: 10.1016/j.canep.2021.101934
Abstract: BACKGROUND The diagnosis of Lynch syndrome-associated endometrial cancer patients is significant for early warning of their relatives. The purpose of this study was to provide diagnostic indicators of Lynch syndrome-associated endometrial cancer by screening the… read more here.
Keywords: syndrome associated; associated endometrial; endometrial cancer; cancer ... See more keywords
Toxic shock syndrome associated with menstrual cup use
Sign Up to like & getrecommendations! Published in 2021 at "IDCases"
DOI: 10.1016/j.idcr.2021.e01171
Abstract: Staphylococcal toxic shock syndrome is a rare but life-threatening condition. It occurs when Staphylococcus aureus bacteria colonizing the vagina of a healthy woman, produce toxic shock syndrome toxin 1 activating the immune system and leading… read more here.
Keywords: syndrome associated; cup use; toxic shock; shock syndrome ... See more keywords
Imposter Syndrome and its Associated Factors in Medical Students in Six Peruvian Faculties.
Sign Up to like & getrecommendations! Published in 2021 at "Revista colombiana de psiquiatria"
DOI: 10.1016/j.rcp.2021.04.011
Abstract: OBJECTIVE To determine the factors associated with impostor syndrome in medical students from six regions of Peru. MATERIAL AND METHODS A multicentre, cross-sectional study was conduced on students from first to the sixth year in… read more here.
Keywords: syndrome associated; medical students; imposter syndrome; students six ... See more keywords