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Answers on p 537.
A 17 year old girl presented with a six week history of loose, yellow motions, marked leg swelling, increased shortness of breath, lethargy, and decreased exercise tolerance. She had gained 10 kg in weight in four months. Her mother commented that over the past nine months she had been somewhat depressed and withdrawn and had su...
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Citations
... The general mutation screening method is useful in populations where the founder effect occurs at a high frequency. The p.H1069Q mutation is widespread in Caucasians with 26-70% of all alleles [6,11], while p.R778L accounts for up to 44% of frequencies in East Asia [12][13][14][15][16]. Studies of the western part of Russia using NGS among more than 400 unrelated probands revealed 66 pathogenic alleles, wherein the most frequent mutations were p.His1069Gln (50%), p.Met769HisfsTer26 (5.3%) and p.Ala1135GlnfsTer13 (2.6%) [17]. However, historically, the territory of Russia was formed from a large number of nationalities from different regions, which undoubtedly affected the spectrum of mutations in the ATP7B gene. ...
Background:
Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting from various mutations in the ATP7B gene. Despite good knowledge and successful treatment options, WD is a severe disease that leads to disability, destructively affecting the quality of life of patients. Currently, none of the available laboratory tests can be considered universal and specific for the diagnosis of WD. Therefore, the introduction of genetic diagnostic methods that allow for the identification of the root cause at any stage over the course of the disease gave hope for an earlier solution of diagnostic issues in patients with WD.
Methods:
A method for the genetic diagnosis of WD based on ARMS PCR, DreamTaq Green PCR Master Mix and modified primers has been developed. This method is able to detect 14 mutant alleles: p.His1069Gln, p.Glu1064Lys, p.Met769HisfsTer26, p.Gly710Ser, p.Ser744Pro, p.Ala1135GlnfsTer13, p.Arg778Leu, p.Arg1041Trp, p.Arg616Gln, p.Arg778Gly, p.Trp779*, p.Val834Asp, p.Gly943Ser and p.3222_3243+21del43.
Results:
The primers for all mutations were highly specific with an absence of wild-type amplification. All the results were validated by direct DNA Sanger sequencing.
Conclusions:
This fast and economical method provides coverage for the identified common mutations, thereby making ARMS PCR analysis using DreamTaq Green PCR Master Mix and modified primers feasible and attractive for large-scale routine use.
Introduction As a trace metal with several critical metabolic roles, copper is present throughout the brain (Warren et al., 1960) and other organs as an essential element needed for maintaining health. This vital mineral enters the body as a dietary component readily absorbed in the small intestine. The body's load of copper is largely stored in the liver and other visceral organs. Systemic organ load of copper is normally regulated by the ability of the biliary system to excrete excess quantities (Frommer, 1974; Gibbs & Walshe, 1980). A failure of the body's mechanisms for eliminating copper is the characteristic feature of an uncommon but distinctive systemic disorder originally termed progressive hepatolenticular degeneration, or Wilson's disease (WD). The latter eponym, now widely used for this disorder, credits the man who discovered much of what we know today and helps to avoid a mistaken notion that excess copper deposition affects only the liver and brain. WD's manifestations throughout the body can be variable from patient to patient, and can include features listed in Table 61.1. In nearly all cases, the liver is a major target of WD. Death from hepatic WD is usually inevitable unless decoppering therapy is instituted early enough. Other systemic manifestations of WD, including its propensity for neurological involvement, can vary greatly among patients. In the pediatric population, hepatic damage is often a presenting feature of the disorder, while neurological impairment becomes increasingly more common with onset in the second or third decades of life.
