Wilson disease

•Download as PPT, PDF•

0 likes•360 views

Wilson disease is a rare genetic disorder where the body has problems removing excess copper, which can build up and damage organs. The presentation discussed what Wilson disease is, noting that it is an autosomal recessive disorder characterized by defective copper excretion. It provided an outline of the topics to be covered and invited any questions from the audience.

Wilson Disease Presentation by: Judy Chen Christine Choi Loomee Doo TA: Nelson Jen Thursday, 1 pm

Wilson disease is a rare genetic disorder that prevents the body from removing excess copper, causing it to accumulate in organs including the liver, brain, and eyes. Symptoms typically appear between ages 5-35 and include yellowing of the skin and eyes, fatigue, and swelling of organs. It is caused by an inherited genetic mutation and requires lifelong treatment to reduce copper levels in the body and prevent organ damage.

Joan Woods, this is your life

syrf

The document summarizes a celebration for Joan Woods at the Religious Coalition for Reproductive Choice on January 10, 2005. Staff members provided quotes about what they enjoyed about Joan and what they would miss most about her, such as her kindness, advocacy, smiles, and supplies of lotion, pens, chocolate bars and more. Rev. Veazey joked about how much time Joan spent at work that he wondered if she was homeless and that President Obama could use her positive energy for the country.

New Israel Fund Guardian of Democracy Invitation 2005

Lisa Finkelstein

This document is an invitation list for the 11th Annual Guardian of Democracy Dinner hosted by the New Israel Fund. It will honor Dr. Raquel Newman with the Guardian of Democracy Award and Dr. Jonathan Fuchs with the New Generations Leadership Award. The keynote speaker will be Avraham Burg, a former speaker of the Israeli Knesset. The dinner will take place on May 16, 2005 at San Francisco City Hall.

New Israel Fund (NIF) Guardian of Democracy Invitation 2012

Lisa Finkelstein

Another Job Perspective, by Joe Lapointe

Office of Religious Education

Joshua Johnson, an African American soldier from Alabama, was severely beaten at a bus station after being discharged from the hospital where he was recovering from war wounds. He had endured a difficult life facing constant racism and threats in his hometown. After the brutal assault, Joshua never regained consciousness and died at Walter Reed hospital. At his funeral, the pastor compared Joshua's life of suffering and resilience in the face of adversity to the biblical figure Job, noting that Joshua, unlike Job, did not complain against God and had found strength and purpose in his faith.

Wilson Disease: A Rare Liver Disorder

Dr. Lewis Teperman

Wilson Disease is a rare genetic liver disorder where the body retains excess copper. It affects about 1 in 30,000 people worldwide and both parents must carry the gene to pass it on. Symptoms can include issues with speech, swallowing, or mood changes. While it can be deadly, treatments like penicillamine or zinc can help remove excess copper, though the patient requires lifelong treatment to manage the disease.

Wilson Disease

Amir Hossein Hosseini M.D.

Wilson disease is an autosomal recessive genetic disorder that causes copper to accumulate in the liver and other organs. It is caused by mutations in the ATP7B gene which impairs copper excretion from the liver. Clinical presentations vary depending on age, with most patients under 10 presenting with liver disease and older patients presenting with neurological or psychiatric symptoms. Diagnosis involves testing for low serum ceruloplasmin, elevated urinary copper levels, elevated liver copper content, and sometimes genetic testing. Treatment aims to reduce copper levels through chelation therapy or zinc supplementation.

Wilson’s disease an update on diagnosis &

Sarath Menon

Wilson disease is a genetic disorder of copper metabolism that can affect the liver, brain, eyes, and other organs. The document discusses Wilson disease in depth, covering copper metabolism, clinical presentation, diagnosis, and treatment approaches including medications, diet, monitoring, and prognosis. Treatment involves chelating excess copper from the body using medications like zinc, penicillamine, or trientine to control symptoms and prevent organ damage.

Wilson disease is an inherited disorder that causes copper to accumulate in the body's tissues. It primarily affects the liver and brain. Symptoms can include liver disease, neurological or psychiatric issues. It is caused by a genetic defect that prevents the body from properly processing copper. Diagnosis involves tests of copper levels in blood and urine as well as occasionally a liver biopsy. Treatment aims to reduce copper intake and use chelating agents like penicillamine to remove excess copper from the body. With proper treatment, prognosis is good though neurological symptoms may persist in some cases.

MySistersKeeper

Brenda Muñoz

The document summarizes key elements of a movie, including characters, settings, and timeline. It discusses flashbacks, settings at a hospital and Fitzgerald house. The drama starts when Sara goes to Campbell Office, before Kate's second surgery. It concludes with the author's comment on the movie's strong message about having a hard life from different points of view but needing to support those who need help, while respecting others' decisions.

Inborn errors of bilirubin metabolism & wilson disease

Anagha Anand

This document discusses bilirubin metabolism and inherited disorders that cause unconjugated or conjugated hyperbilirubinemia. It describes Gilbert syndrome, Crigler-Najjar types 1 and 2, Dubin-Johnson syndrome, and Wilson's disease. Gilbert syndrome is a mild condition caused by reduced bilirubin conjugation enzymes. Crigler-Najjar type 1 is severe and fatal without treatment. Crigler-Najjar type 2 and Dubin-Johnson syndrome cause milder forms of hyperbilirubinemia. Wilson's disease results from a copper transport gene defect leading to copper accumulation and liver or neurological symptoms.

Wilson radiology

laxmikant joshi

The document describes findings on CT and MRI in patients with Wilson's disease. Key findings include cortical atrophy, ventricular dilatation, caudate atrophy, and hypodensities in the brainstem, cerebellum, basal ganglia, and thalamus on CT. MRI shows atrophy of the cerebrum, brainstem, and cerebellum, along with signal abnormalities in the putamen, caudate, thalami, midbrain, pons, and cerebral white matter. Characteristic signs on MRI include the "face of a giant panda" and "bright claustral" signs. Differential diagnosis and clinical features like the Kayser-Fleischer ring are also discussed.

Post trans mod-and_protein sorting

Dr-HAMDAN

Post-translational modifications (PTMs) are key mechanisms that increase proteomic diversity and regulate cellular activity. PTMs such as phosphorylation, methylation, acetylation, and ubiquitination occur through the addition of functional groups to specific amino acids on a protein by enzymes. These modifications can regulate protein activity, stability, localization, and degradation. Proteins are targeted to different intracellular compartments through sorting signals and transport mechanisms like gated transport, transmembrane transport, and vesicular transport.

Presentation1, radiological imaging of wilson disease.

Abdellah Nazeer

Wilson disease is a rare genetic disorder that causes excessive copper accumulation in the body's tissues, especially the liver and brain. Symptoms typically appear between ages 6-20 and can include neurological or psychiatric issues as well as liver problems. MRI is crucial for evaluation and shows characteristic patterns of abnormal signals in the basal ganglia and brainstem. Regions often demonstrate hyperintensity on T2-weighted images and hypointensity on T1-weighted images. The accumulation of copper can also be detected by restricted diffusion on diffusion-weighted MRI sequences. Serial imaging may show progression of the distinctive "panda" and "cub" facial signs within the midbrain and pons over time.

post translational modifications of protein

Anandhan Ctry

Post-translational modifications (PTMs) are chemical modifications of proteins that occur after translation. PTMs play a key role in regulating protein function by modifying activity, localization, and interactions. The main types of PTMs discussed are phosphorylation, glycosylation, ubiquitination, S-nitrosylation, methylation, N-acetylation, lipidation, and proteolysis. These modifications are identified through techniques like mass spectrometry, HPLC, radioactive labeling, and gel electrophoresis. PTMs are important for processes like cell signaling, growth, and apoptosis.

Wilson disease

sadi nkhala

Wilson disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. This leads to toxic buildup of copper in the liver, brain, and eyes. Accumulated copper causes tissue damage through free radical formation, binding to cellular proteins, and displacing other metals in enzymes. In children, copper escapes the damaged liver and deposits in other tissues like the brain, kidneys, and cornea. Clinical features include liver disease, neurological or psychiatric symptoms, hypoarathyroidism, and a brown ring around the eye. Diagnosis involves testing for increased urinary copper, decreased serum ceruloplasmin, and high copper levels in liver biopsy

Wilson disease

Amr Hassan

Post-Transcriptional Modification

Euplectes

The document summarizes several key post-transcriptional processes involved in modifying mRNA in eukaryotes. These include 5' capping, 3' polyadenylation, intron removal through splicing, and the role of heterogeneous ribonucleoproteins (hnRNP) in transporting mRNA out of the nucleus. The splicing process involves small nuclear RNAs binding in a spliceosome to catalyze two transesterification reactions that remove introns and ligate exons. Mature mRNA can also be generated through trans-splicing of separate RNA molecules or alternative splicing of different exons from the same gene. Nuclear pore complexes selectively transport molecules including mRNA in and out of the nucleus.

Wilson disease

amandawaltman

Wilson disease is a rare genetic disorder that causes copper to accumulate in the body's organs. It is caused by mutations in the ATP7B gene and prevents the body from properly processing copper. Left untreated, copper builds up in the liver, brain, kidneys and eyes, causing organ damage. Symptoms vary depending on the affected organs but may include liver problems, neurological issues, and Kayser-Fleischer rings forming around the eyes' irises. Treatment focuses on removing excess copper from the body using medication and a low-copper diet.

Post-Translational Modifications

Aisha Kalsoom

The document discusses protein synthesis and post-translational modification. It describes how translation involves mRNA, ribosomes, tRNA, and release factors to synthesize proteins. The process involves initiation, elongation, and termination. After synthesis, the peptide undergoes folding, modification like phosphorylation, and can be transported to organelles. Post-translational modifications are important for diversity and regulating protein function, and involve processes like methylation, ubiquitination, and glycosylation. Diseases like atherosclerosis and fibrosis are related to disorders of collagen deposition and modification.

Wilson disease & general discussion on copper metabolism

Namrata Chhabra

This document provides an overview of Wilson disease, including its epidemiology, genetics, pathophysiology, clinical features, diagnosis, and treatment. Key points include: - Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene resulting in copper accumulation. - It occurs worldwide with an incidence of 1 in 30,000. Symptoms typically onset between ages 6-40. - Clinical presentation can include hepatic, neurological, and psychiatric features. Kayser-Fleischer rings seen on eye exam and low ceruloplasmin levels support diagnosis. - Treatment involves chelation therapy with penicillamine or trientine to remove excess copper from the body. Zinc can also

Nerurological Wilson diseas amaan, Bangladesh, 2017

abdullahel amaan

Neurologic Wilson Disease presents challenges for pediatricians. It is an inherited disorder of copper metabolism caused by a defect in the ATP7B gene. Symptoms range from neurological to psychiatric to hepatic. Diagnosis involves low ceruloplasmin, high urinary copper, liver biopsy, and genetic testing. Treatment goals are lifelong copper chelation, typically with penicillamine, trientine, or zinc, along with a low copper diet. Prognosis is good if treatment begins promptly, with neurological symptoms typically improving within 1-3 years. Strict follow up is needed to monitor treatment response and complications.

Post transcriptional modification

Muhammed sadiq

Post-transcriptional modifications help process primary transcripts into mRNA in three main ways: 1) 5' capping protects the transcript and aids export from the nucleus, 2) Polyadenylation aids stability and transport, and 3) Splicing removes introns and ligates exons to form mature mRNA. In eukaryotes, this occurs in the nucleus and is essential for efficient translation. It can also result in alternative splicing to increase protein diversity from a single gene.