China
Africa
Explore chapters and articles related to this topic
Hepatic disorders in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Ghassan M. Hammoud, Jamal A. Ibdah
Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatic copper metabolism caused by defective copper transporting ATPase in the liver causing a decrease in biliary excretion of copper and abnormal accumulation of copper in many tissues, notably the liver, brain, kidneys, and cornea. The most common gene mutation described in WD is ATP7B. WD is a rare disorder with a worldwide prevalence of 1:30,000. Clinical manifestations depend on the affected organs and include acute or chronic hepatitis, cirrhosis, hemolysis, chorea, tremors, spasticity, and psychiatric changes. A Kayser–Fleischer ring is often observed once neurologic or psychiatric symptoms develop. The diagnosis is made by a low serum level of ceruloplasmin and an elevated concentration of copper in the liver tissue. Women with WD have high rates of infertility due to menstrual irregularities and recurrent miscarriages (45,46). The former is the result of hormonal changes caused by hepatic failure and copper toxicity and the latter is caused probably by increased copper deposition in the uterus. Hemolysis can be a presenting feature in some cases.
Non-viral liver disease
Published in Michael JG Farthing, Anne B Ballinger, Drug Therapy for Gastrointestinal and Liver Diseases, 2019
John ML Christie, Roger WG Chapman
Wilson’s disease, or hepatolenticular degeneration, is a rare autosomal disorder of copper accumulation.73 The Wilson’s gene is located on chromosome 13 and encodes a copper-transporting P-type ATPase protein.74, 75 Deficiency of the gene product is likely to be responsible for the lack of copper incorporation into caerulo-plasmin and the defective biliary excretion of copper seen in Wilson’s disease. This results in excess copper accumulation in the liver, brain and other organs including the kidney and cornea, resulting in Kayser-Fleischer rings (a golden-brown or greenish discoloration in the limbic area seen best during slit-lamp examination). The copper accumulation eventually leads to tissue damage.
Signs and Symptoms in Psychiatry
Published in Mohamed Ahmed Abd El-Hay, Essentials of Psychiatric Assessment, 2018
Eye examination: Edema of the conjunctiva and eyelids may result from local eye diseases (usually unilateral) or congestive heart failure (usually bilateral).Scleral icterus: yellowish discoloration of the sclera usually denotes hyperbilirubinemia.Kayser–Fleischer rings in cases of Wilson disease.Papilledema in cases of increased intracranial pressure.Subhyaloid hemorrhages in subarachnoid hemorrhage.
Hyperglycemic hemichorea due to diabetic striatopathy: case-based review
Published in Current Medical Research and Opinion, 2022
Mihael Emilov Tsalta-Mladenov, Darina Kirilova Georgieva, Silva Peteva Andonova
On admission, the patient presented in good general condition, well oriented, in an afebrile state − 36.7 °C, the regular pulse at 76 beats per minute, and blood pressure 120/75 mm/Hg. The neurological examination revealed bilaterally equal pupils reactive to light and no Kayser-Fleischer ring was appreciated on naked eye examination. All cranial nerves were intact. The motor activity examination presented with preserved muscle strength 5/5 for all limbs, slightly decreased muscle tone for the left upper and lower limb, involuntary hyperkinetic movements for the left limbs and the left half of the face, described as hemichorea. Deep tendon reflexes were normal for the upper limbs and decreased, just elicitable (−3) patellar and Achilles reflexes bilaterally. There were no pathological reflexes from Babinski and Rossolimo groups. The superficial and deep sensation was preserved, and there were no cerebellar signs, whereas the gait was abnormal due to the hyperkinetic dance-like movements. Higher mental functions and all other systemic examinations were within the normal limits.
Brain microstructural changes and cognitive function in non-demented essential tremor patients: a diffusion tensor imaging study
Published in International Journal of Neuroscience, 2021
Y. Sengul, H. O. Temur, Z. Corakcı, H. S. Sengul, H. Dowd, I. Ustun, A. Alkan, E. D. Louis
We recruited 81 consecutive patients with tremor between 18 and 76 years old who visited the general or movement disorders clinic of the Neurology Department of the Bezmialem Foundation University Hospital, Eyup Sultan, and Fatih Additional Buildings in Istanbul, Turkey, during the six-month period between January 2018 and July 2018. The study was conducted according to the ethical principles stated in the Declaration of Helsinki and was approved by the Ethical Committee of the Bezmialem Foundation University Hospital. Written informed consent was obtained from the participants after the nature of the procedures had been fully explained. Sociodemographic characteristics, family history (first- and second-degree), and duration of disease were recorded. We ruled out other possible causes of tremor using the following blood tests: thyroid hormone, vitamin B12, folate, other biochemical blood tests (e.g. liver and kidney functions), and hemogram. An ophthalmologist examined patients for Kayser-Fleischer rings in those younger than 45 years.
A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease
Published in Expert Review of Neurotherapeutics, 2019
Sean Cleymaet, Katsuko Nagayoshi, Edward Gettings, Justin Faden
WD presents pleiotropically and can be an easily missed diagnosis. This especially applies for patients with neuropsychiatric symptoms that may not have been screened for hepatic dysfunction. Initial workup consists of a serum ceruloplasmin level and a 24-hour urinary copper test, in addition to labs such as a complete blood count (CBC), basic metabolic panel (BMP), and hepatic function panel. A slit-lamp examination for Kayser-Fleischer rings is often added. Use caution when interpreting laboratory results; ceruloplasmin and urinary copper levels are affected by acute infection, hepatic injury, renal failure, and certain medications such as steroids and estrogens [44]. In these cases, additional testing such as liver biopsy (with copper quantitation) and genetic analysis (for ATP7B mutations) is indicated. To increase diagnostic accuracy a number of different scoring systems have been proposed. The most well-known was developed during the 8th International Meeting on WD held in Leipzig (2001) and is adapted below (Table 1) [46].