Wilson disease

We present the case of a 17 - year - old female patient with generalized tonic - clonic seizures and cerebellar ataxia who presented to our hospital. The patient was initially diagnosed with encephalitis and epilepsy before being identified with WD based on clinical and laboratory data. The patient had made a significant clinical recovery after six months of follow - up.

4p inception36 30-11-2021 16 1   Download

Sarcoptic mange in one humped-camels (Camelus dromedaries) caused by Sarcoptes scabiei var cameli is considered to be one of the most obstinate and economically important zoonotic and epizootic disease that can be spread among animals via direct physical contact with infested animal and indirectly through fomites (e.g., ropes, blankets and saddlery) especially in tropical and subtropical areas (Singh, 2005; Parsani et al., 2008; Wilson, 2008). The present paper demonstrates the successful therapeutic management of sarcoptic mange in camels.

3p gaocaolon9 22-12-2020 17 1   Download

Wilson disease (WD) is an autosomal recessive disorder of human copper metabolism characterized by copper accumulation in the liver due to impaired excretion of copper into the bile. Brain accumulation of copper may cause neuropsychiatric symptoms. Trientine (triethylenetetramine dihydrochloride) is a copper-chelating agent used to treat patients with WD.

4p vienzym2711 30-03-2020 14 1   Download

In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options and outcome.

11p virubber2711 21-03-2020 38 1   Download

part 2 book “sherlock’s diseases of the liver and biliary system” has contents: autoimmune hepatitis and overlap syndromes, enterically transmitted viral hepatitis, drug - induced liver injury, iron overload states, wilson disease, nutrition and chronic liver disease, the liver in the neonate, in infancy, and childhood,… and other contents.

1259p tieu_vu13 06-08-2018 46 1   Download

Wilson disease (WD), an inherited disorder affecting copper metabolism, is characterized by hepatic cirrhosis and neuronal degeneration, which result from toxic levels of copper that accumulate in the liver and brain, respectively. We reported previously that the  1.3-kb promoter of the WD gene contains four metal response elements (MREs). Among the four MREs, MREa plays the most important role in the transcriptional activation of the WD promoter.

11p research12 01-06-2013 52 2   Download

ZntA, a bacterial zinc-transporting P-type ATPase, is homologous to two human ATPases mutated in Menkes and Wilson diseases. To explore the roles of the bacterial ATPase residues homologous to those involved in the humandiseases, we have introduced several pointmutations into ZntA. The mutants P401L, D628A and P634L corres-pond to the Wilson disease mutations P992L, D1267A and P1273L, respectively.

8p research12 29-04-2013 40 2   Download

Eugene “Bill” Wilson (1900–1981) was Dean of Admission at Amherst College. He was known for his sense of humor and his genuine interest in the welfare of each student. This quote attributed to him, published in Reader’s Digest in April of 1968, summarizes education to me, that is, it is learning itself that is most exciting, not the knowledge per se that one gathers from it. It is truly the lifelong ride of learning, not the final destination, that makes us what we are.

367p crius75 04-01-2013 85 6   Download

In writing An Atlas of Parkinson’s Disease and Related Disorders, I have been conscious of the need to find an appropriate match between the text and the illustrative material. The text is designed to provide a basic overview of the conditions discussed, inevitably concentrating on those areas which lend themselves best to photographic illustration. Some movement disorders, by their very nature, do not lend themselves to still photography whereas others, characterized by sustained postures, are ideally suited to the technique.

83p crius75 04-01-2013 56 8   Download

Ethnic-religion hostilities which started in February 2004 in shimkar and Kelwa in Plateau state, with the conflict spreading to neigbouring communities of Zomo, Doka and Lopidi, Laraba and Unguwar Adamu. Many people were wounded and houses burnt. On 13 May 2004, a total of 735 internally-displaced families were sheltered in school compounds, markets and mosques in Lafia town of Nassarawa state. This figure includes 1,543 displaced children (The Federation’s Mission, 2004).

23p connhobinh 10-12-2012 57 1   Download

In recent years, in other disciplines as well, countries worldwide have been conducting large national studies targeting people. It is thought that each country intends to collect information about the people in these studies as part of its national strategy and accumulate it as intellectual property for the health and medical care of future generations. The United Kingdom, for example, is conducting research to determine the effects of lifestyle, the environment, and genetics, targeting 500,000 adults.

7p connhobinh 10-12-2012 38 0   Download

There are a lot of references of rickettsioses acquired by travellers and considered imported diseases (McDonald et al., 1988; Bottieau et al. 2006; Freedman et al., 2006; Askling et al. 2009; Chen & Wilson, 2009; Jensenius et al., 2009; Stokes & Walters, 2009). Nowadays ticks cause most travel-associated rickettsioses. Ticks are considered to be one of the most important vectors of infectious diseases in the world, preceded only by mosquitoes. Therefore, tick-borne rickettsioses are endemic all over the world (Hechemy et al., 2006).

254p wqwqwqwqwq 21-07-2012 66 10   Download

Dystonia is a neurologic disorder characterized by involuntary, sustained, patterned, and often repetitive muscle contractions of opposing muscles that cause twisting movements, abnormal postures, or both (1). One of the earliest descriptions of dystonia was provided in 1888 by Gowers, who used the term “tetanoid chorea” to describe the movement disorder in two siblings who were later diagnosed to have Wilson’s disease.

65p ozon_ozon 03-05-2012 42 4   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Leptospirosis presenting in a woman with fulminant hepatic failure from Wilson’s disease: a case report...

3p thulanh26 09-12-2011 44 2   Download

Mô học Hình 62 trong bệnh Wilson cho thấy teo và ít không khí của putamen (mũi tên đen). Mất bó myelin trong putamen tương phản với sự xuất hiện bình thường trong các globus pallidus (mũi tên màu trắng, màu xanh Luxol nhanh)

0p taoxanh7 15-11-2011 37 2   Download

Xếp loại các bệnh thoái hoá: Chất trắng: -Bệnh thoái hoá Myêlin: bệnh mắc phải do myêlin hoá bị rối loạn -Bệnh rối loạn tạo myêlin: sai sót bẩm sinh di truyền tạo myêlin, bảo vệ và thoái hoá myêlin Chất xám: -Sa sút trí tuệ tuổi già, thể Alzheimer -Bệnh Pick -Sa sút trí tuệ do mạch máu vỏ não( sa sút trí tuệ do nhồi máu nhiều ổ) -Bệnh Parkinson -Lyosomal storage disease Các hạch nền: -Bệnh Hungtington(di truyền, biến dị cành ngắn NST 4, tăng tổng hợp Nucleotit CAG, ) -Bệnh Wilson( Rối loạn chuyển hoá đồng) -Bệnh Fahr -Bệnh Leigh( bệnh não –tuỷ sống hoại tử...

22p truongthiuyen12 09-07-2011 754 36   Download

Hepatocellular Conditions Hepatocellular diseases that can cause jaundice include viral hepatitis, drug or environmental toxicity, alcohol, and end-stage cirrhosis from any cause (Table 43-2). Wilson's disease, once believed to occur primarily in young adults, should be considered in all adults if no other cause of jaundice is found. Autoimmune hepatitis is typically seen in young to middle-aged women but may affect men and women of any age. Alcoholic hepatitis can be differentiated from viral and toxin-related hepatitis by the pattern of the aminotransferases.

5p ongxaemnumber1 29-11-2010 69 2   Download