9 results match your criteria: "Porphyria Chester"
First identification of an evolving Middle Stone Age ochre culture at Porc-Epic Cave, Ethiopia.
Sci Rep
September 2023
PACEA UMR 5199, Université de Bordeaux, CNRS, Allée Geoffroy Saint-Hilaire, 33600, Pessac, France.
Article Synopsis
- * The collection includes over 40 kg of ochre and tools, allowing researchers to analyze changes in ochre processing techniques over time, revealing how Middle Stone Age inhabitants adapted their technology based on available materials.
- * The findings suggest that these early humans had an understanding of different ochre properties for practical use and symbolic art, as evidenced by ochre residues found on a painted pebble intended for creating red dots.
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Physiol Res
May 2007
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.
Article Synopsis
- Porphyrias are diseases caused by problems with certain enzymes that help make a substance called heme, mostly passed down from parents.
- Doctors usually figure out if someone has porphyria by looking at symptoms and lab tests, but sometimes two types can happen at the same time, making it tricky to diagnose.
- Chester porphyria is similar to two other types but is actually a variation of acute intermittent porphyria, not a new type, as scientists found a specific genetic issue that explains it.
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Acta Derm Venereol
May 2002
Department of Dermatology, University of Innsbruck, Austria.
Variegate porphyria is a rare disease caused by a deficiency of protoporphyrinogen oxidase. In most cases, the clinical findings are a combination of systemic symptoms similar to those occurring in acute intermittent porphyria and cutaneous lesions indistinguishable from those of porphyria cutanea tarda. We report on a 24-year-old woman with variegate porphyria who, after intake of lynestrenol, developed typical cutaneous lesions but no viscero-neurological symptoms.
View Article and Find Full Text PDFArticle Synopsis
- Chester porphyria is a special kind of illness that affects how certain chemicals are made in the body and needs different enzymes to work properly.
- Researchers studied a big family with Chester porphyria to find where the problem is in their DNA, using something called linkage analysis to trace specific gene markers.
- They found that there is a unique spot on chromosome 11 that seems to be connected to Chester porphyria, separate from another related enzyme issue.
Hypertension and renal impairment as complications of acute porphyria.
Nephrol Dial Transplant
December 1992
Department of Medicine, Chester Royal Infirmary, UK.
Article Synopsis
- A big family with a lot of members has a serious health problem caused by a condition called acute porphyria, leading to high blood pressure and kidney failure.
- A study showed that people with porphyria had higher blood pressure and worse kidney function compared to those without it.
- Some grandchildren in this family have died from these health issues, making it important to understand how porphyria affects them, even if they don’t show symptoms.
Regulation of erythroid cell-specific gene expression during erythropoiesis.
Br J Cancer Suppl
December 1988
Beatson Institute for Cancer Research, Bearsden, Glasgow, UK.
Article Synopsis
- Our group has been studying how certain genes work in red blood cells, especially during their development.!
- We've focused on specific genes like the alpha-globin gene and others that help protect cells from damage.!
- Our experiments show that parts of these genes are important for making sure they work properly in different types of cells, like red blood cells, liver, and kidneys.!
Chester porphyria: a clinical study of a new form of acute porphyria.
Br Med J (Clin Res Ed)
February 1986
Article Synopsis
- There's a big family in Chester with a rare condition called acute porphyria, which they got from a marriage in 1896, and it affects about 200 of their descendants.
- Over the last eight years, six younger members from this family have died because of the illness, and doctors sometimes missed diagnosing it since the symptoms look like other sicknesses.
- The family has set up a special register so they can take better care of those at risk, offering them tests, information, and help with understanding their genes.
Article Synopsis
- A new type of acute porphyria has been found in a big family from Chester, UK, and the patients had strange health issues but didn't have skin problems.
- The patients' urine showed different patterns of substances related to hemoglobin, with some showing traits of two known types of porphyria.
- Tests on blood showed that the family members have problems with two important enzymes needed for making hemoglobin, but scientists still don't understand the genetic cause of this new type of porphyria.