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Essential Thrombocythemia: A Review.
JAMA
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
Importance: Essential thrombocythemia, a clonal myeloproliferative neoplasm with excessive platelet production, is associated with an increased risk of thrombosis and bleeding. The annual incidence rate of essential thrombocythemia in the US is 1.5/100 000 persons.
View Article and Find Full Text PDFInvestigating causal relationship among inflammatory cytokines and oropharyngeal cancer: Mendelian randomization.
Discov Oncol
January 2025
Department of Stomatology, Hangzhou Linping District First People's Hospital, Hangzhou, China.
Objectives: This study aims to use Mendelian randomisation to identify the causal relationship between a spectrum of 41 inflammatory cytokines and the development of oropharyngeal cancer.
Methods: This study investigated genetic variants that have been associated with oral and oropharyngeal cancer using data from a large GWAS. Inflammatory cytokine data were obtained from 8293 asymptomatic individuals.
Assessing the Rise in Papillary Thyroid Cancer Incidence: A 38-Year Australian Study Investigating WHO Classification Influence.
J Epidemiol Glob Health
January 2025
Centre of Environment and Population Health, School of Medicine and Dentistry, Griffith University, Nathan, QLD, 4111, Australia.
The incidence of thyroid cancer has shown marked increases globally over recent decades. This study investigated how the incidence of papillary thyroid carcinoma (PTC) subtypes and World Health Organisation (WHO) endocrine tumour classification changes have affected overall thyroid cancer incidence recorded in Australia. Using incidence data from the Australian Institute of Health and Welfare cancer registry (spanning 1982 to 2019), this descriptive epidemiological study employed joinpoint regression analysis to assess temporal trends in thyroid carcinoma incidence, focusing on PTC.
View Article and Find Full Text PDFExocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFThick skin and thicker arteries: case report on a rare cause of hypertension.
Pediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
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