A 13-year-old boy presented with difficulty in speech and writing for 4 years as well as abnormal liver function tests and seizures. Examination revealed splenomegaly, bilateral gynecomastia, increased muscle tone, and Kayser-Fleischer rings in the eyes. MRI showed hyperintensity and hypointensity in the basal ganglia and putamen region. Laboratory tests confirmed low serum albumin and increased ALT. The patient was diagnosed with Wilson's disease, an autosomal recessive disorder characterized by degenerative changes in the brain and liver disease caused by a defect in copper transport leading to copper accumulation.
lupus nephritis is a autoimmune disease, commonly seen in adult and child and the medical or nursing care is also very important for this type of disease condition.
Management Of Nephrotic Syndrome
Objectives
To briefly review the definition & etiology of nephroticsyndrome.
To understand the terminology pertaining to clinical course of nephroticsyndrome.
To understand the management of nephroticsyndrome:Specific management & Supportive care and management of complications
Management of congenital nephrotic syndrome
Aplastic anemia is one of the stem cell disorder which leads to pancytopenia in the peripheral blood and decrease production of all cell line in bone marrow. it require bone marrow transplantation to cure the patient.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
lupus nephritis is a autoimmune disease, commonly seen in adult and child and the medical or nursing care is also very important for this type of disease condition.
Management Of Nephrotic Syndrome
Objectives
To briefly review the definition & etiology of nephroticsyndrome.
To understand the terminology pertaining to clinical course of nephroticsyndrome.
To understand the management of nephroticsyndrome:Specific management & Supportive care and management of complications
Management of congenital nephrotic syndrome
Aplastic anemia is one of the stem cell disorder which leads to pancytopenia in the peripheral blood and decrease production of all cell line in bone marrow. it require bone marrow transplantation to cure the patient.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
AR inherited disorder of impaired copper excretion characterized by excessive deposition of copper in many tissues and organs, principally the liver, brain, and eye. • Discovered by Samuel Alexander kinnier Wilson. Liver fails to excrete sufficient Cu via the bile, and the ability to incorporate Cu into CP is diminished Due to loss of function mutations of the ATP7B gene on chromosome 13, which encodes a copper-transporting ATPase (ATP7B). Most common presentations are with liver disease or neuro- psychiatric disturbances. Kayser–Fleischer ring is the clinical hallmark of WD. caused by deposition of copper in Desçemet’s membrane of cornea. Penicillamine is the of choice.
Wilson's disease is an autosomal recessive disease causing progressive
copper overload. It is an initially hepatic affection which can evolve
towards a multi-systemic attack with an accumulation of copper in
the brain, the eye, the kidney, the heart. The diagnosis is carried out
on a bundle of clinical, biological and radiological findings. Treatments associate a diet low in copper, copper chelators or zinc salts.
Liver transplantation is the treatment for fulminant liver forms. This
rare genetic disease has a good prognosis if treatment is started early
and continued for life. It is therefore important to know the clinical manifestations of the disease and the diagnostic tests to evoke it
quickly in order to ensure regular clinical and biological monitoring
of patients. In this context, we report a familial case of Wilson's disease with its neurological, psychiatric, hepatic and ophthalmological
manifestations
definition of malnutrition, the definition of protein-energy malnutrition , the etiology 0f protein-energy malnutrition, the pathophysiology of malnutrition, features of marasmus, features of kwashiorkor, vitamins and micronutrient deficiencies, signs of micronutrients deficiency, diagnosis, management of malnutrition,prognosis of malnutrition ,prevention of malnutrition
Definition of erythema infectiosum, the causative factor, clinical presentation, the three stages of rash, the slipped cheek, the sequences of the rash, the diagnosis of the fifth disease, the differential diagnosis of fifth disease, the treatment of erythema infectiosum, the prognosis of fifth disease , congenital erythema infectiosum, the complications of fifth disease , Human parvovirus B19
What is kingella kingae bacterium,features of K. kingae,Species of Kingella,epidemiology of k. kingae,Proposed pathogenesis of K. kingae infections,Transmission of k. kingae ,Pathegenesis of k. kingae,diagnosis ,NAAT for k.kingae ,treatment of k.kingae,prevension ,osteomyelitis due to k,kingae.endocarditis due to k.kingae,Septic Arthritis due to k. kingae,Spondylodiscitis due to k. kingae, prevention of k. kingae infection
What is congenital nephrotic syndrome ,what is the definition of congenital nephrotic syndrome,what is the inheritance,what are the responsible genes ,what are the types of congenital nephrotic syndrome,what is the presentation ,diagnosis ,and treatment of congenital nephrotic syndrome, primary type and secondary type of congenital nephrotic syndrome
What is nonalcoholic fatty liver disease, what is the prevalence among children ,the definition of NAFLD,What are the relationship between obesity and over weight with the development of NAFLD,what are the sequences ,what is NASH,Who are at risk , How to diagnosis NAFLD what is the differential diagnosis ,what is the treatment
#what is listeriosis #,listeria monocytoges ,#what is the mode of transmission,#food-born infection ,#vertical infection ,#early and late onset ,#meningitis و#Sepsis ;#Early vs.Late onset neonatal listeriosis ,diagnosis of neonatal listeriosis ,treatment of neonatal listeriosis ,prevention of neonatal listeriosis
What is achondroplasia, definition , etiology ,types of dwarfism , genetic background,clinical presentations ,history and clinical examination , differential diagnosis ,diagnostic tests ,radiological findings ,CT scan and MRI , Medical care and role of growth hormone ,Surgical care and consultation,
Definition of neonatal sepsis,type of neonatal sepsis ,early onset neonatal sepsis,late onset neonatal sepsis,Pathophysiology of neonatal sepsis,,sign and symptoms of neonatal sepsis, diagnosis of neonatal sepsis,management of neonatal sepsis, antibiotic used for neonatal sepsis,prevention of neonatal sepsis, prognosis of neonatal sepsis ,and A summary
What is bronchiolitis and its definition, the age group, signs and symptoms and clinical presentation The clinical practice guidelines, how to diagnosis, clinical criteria, what are the severity degrees and How to assess the severity, what are the investigations that may be needed, Is there any diagnostic test, what is the prognosis
What is the management,
What is your knowledge regarding electrical burn in children,types of electrical burns in children.,characteristic features of each type ,minor electrical burn , high -voltage electrical burn ,lightning electrical burn what are the clinical presentations and management ,cardiac complication of electrical burn,neurological complication of electrical burn , cutaneous and oral complication ,masculoskeletal complication and ocular and renal complications
what is community acquired pneumonia(CAP),what is the prevalence of (CAP) ,what are the risk factors and what are the causative agents ,what are the clinical presentations ,how to diagnose it,what are the needed investigations ,what is the management ,what are the procedures to decrease the incidence,
definition what is FPIES, what it defers from other food allergy, what are the signs and symptoms ,what are the different types of food allergy ,how to diagnose FPIES ,what are the oral food challenge (OFC) ,what is the treatment , the prognosis of FPIES
What is influenza ,ethology ,types ,presentations signs and symptoms ,epidemic influenza ,laboratory investigations , management , the WHO guidelines in dealing with cases and contact
What is Fifth disease, what is erythema infectiosum What is the causative factor, pathophysiology ,clinical presentation ,diagnosis ,laboratory investigations ,treatment , precautions and prognosis ,
حساسية الجلد ماهي فوائد الجلد ماهي الحساسية ماهي انواع حساسية الجلد ماهي العوامل التي تؤدي لحدوث الحساسية ماهي انواع الحساسية ماهي اعراض الحساسية ماهي طرق الوقاية من الحساسية ماهو علاج الحساسية
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
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Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?
Wilson disease
1. Children with difficulty in
speech and writing associated
with pallor and abnormal liver
function tests and seizures
2. 13yr old boy
history
• Difficulty in speech and writing for 4
years and also on walking for 1 year.
• Difficulty to perform any work by
hands for 6 months
• His speech was low volume slurred
and monotonous
10/30/2012 Prof. Dr. Saad S Al Ani 2
3. Examination
• Splenomegaly and bilateral gynaecomastia.
• Muscle tone was mildly increased, and gait
was limping.
• Slit lamp examination of eye revealed
bilateral Kayser-Fleischer ring with normal
visual acuity.
10/30/2012 Prof. Dr. Saad S Al Ani 3
4. MRI T2 & T1-Weighted Image
Hyperintensity & Hypointensity in Bilateral
Basal Ganglia & Putamen Region
10/30/2012 Prof. Dr. Saad S Al Ani 4
5. Normal MRI of the brain
Axial MRI image through the basal ganglia. Included in the
basal ganglia are the caudate and putamen, globus pallidus
externus (GPe), and globus pallidus internus (GPi).
10/30/2012 Prof. Dr. Saad S Al Ani 5
6. 11yr old boy
history
• Progress pallor , lassitude ,mildly
jaundice for the last 2 months
• Dysarthria
• Salivation
10/30/2012 Prof. Dr. Saad S Al Ani 6
7. Examination
• Pallor , Jaundiced ,palmer erythema
• Hepatomegaly
• Postural tremor, dysdiadochokinesia
• Dysarthria, Gait disturbances
• The Kayser-Fleischer ring is found on
slit lamp examination of the eye
10/30/2012 Prof. Dr. Saad S Al Ani 7
11. Liver scan
Slightly :
• Nonuniform radiotracer distribution in
the liver
• Increased bony uptake.
10/30/2012 Prof. Dr. Saad S Al Ani 11
12. Additional laboratory investigations
• Serum caeruloplasmin level was 11.51
mg/dl.
• 24 hours urinary copper excretion was
150 microgram per day
10/30/2012 Prof. Dr. Saad S Al Ani 12
13. 17 years old boy
history
• History of seizures for last 7 days
• Generalized tonic clonic in nature.
• For last 2 days he was having multiple
seizure episodes without regaining of
consciousness in between.
10/30/2012 Prof. Dr. Saad S Al Ani 13
14. Prior history
• Behavioral disturbances in the form of :
- Disinterest in the surroundings
- Decreased interaction with friends
and relatives
- Occasional outburst of temper for last
4 months was present
10/30/2012 Prof. Dr. Saad S Al Ani 14
15. Cont.
• Speech and gait difficulties for last 2
months.
• There was no history of
headache, vomiting, visual disturbances
or focal deficits.
• None of his siblings had similar illness.
10/30/2012 Prof. Dr. Saad S Al Ani 15
16. General examination
• Vitals were stable
• No jaundice or flaps
• Abdominal examination did not reveal
organomegaly or free fluid.
• On general examination Kayser-Fleischer
rings were present in cornea
10/30/2012 Prof. Dr. Saad S Al Ani 16
17. Neurological examination
• Mute, having mask like faces, drooling
of saliva and dystonic tongue
• Generalized cogwheel rigidity in all 4
limbs including axial musculature
• Postural tremors of both upper limbs
10/30/2012 Prof. Dr. Saad S Al Ani 17
18. Cont.
• Hyperreflexia, extensor planters and
normal muscle strength.
• Sensory and cerebellar system
examination was unremarkable
• Ophthalmological exam showed Kayser-
Fleischer ring on slit lamp
10/30/2012 Prof. Dr. Saad S Al Ani 18
21. Wilson disease
(Hepatolenticular degeneration)
Is an autosomal recessive disorder
characterized by:
1.Degenerative changes in the brain
2. Liver disease
3.Kayser-Fleischer rings in the cornea
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 21
22. Autosomal recessive inborn error of copper
transport
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 22
23. The incidence
1/50,000-100,000 births
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 23
24. Introduction
• The abnormal gene for Wilson disease is
on chromosome 13; linkage studies have
assigned the Wilson disease locus to
chromosome 13 at q14-q21.
• The gene encodes amino acid structural
motifs consistent with a role in copper-
binding, cation-transporting P-type
ATPase .
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 24
25. Basic mechanism
• Relates to decreased excretion of biliary
copper, owing partly to a lysosomal
defect of the liver cells
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 25
26. Healthy subjects: intake and excretion
is well balanced
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 26
27. Normal absorption and distribution of
copper
Cu = copper, CP = ceruloplasmin, green = ATP7B carrying
copper.
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 27
28. Pathogenesis
Defective mobilization of copper
from lysosomes in liver cells
↓ Oxidant injury to
Relentless accumulation hepatocyte
of copper in the liver → mitochondria
↓ ↓
Copper then escapes the liver Lipid peroxidation of
the mitochondria
to damage other organs
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 28
29. Clinical Manifestations
Forms of hepatic disease:
• Include :
1.Asymptomatic hepatomegaly
(with or without splenomegaly)
2.Subacute or chronic hepatitis
3.Fulminant hepatic failure.
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 29
30. Cont.
Other manifestations of Wilson disease
include:
* Cryptogenic cirrhosis
* Portal hypertension,
* Ascites
* Edema,
* Variceal bleeding
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 30
31. Cont.
*Other effects of hepatic dysfunction :
- Delayed puberty
- Amenorrhea,
- Coagulation defect
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 31
32. Clinical Manifestations
Neurologic and psychiatric disorders
• Intention tremor
• Dysarthria
• Dystonia
• Deterioration in school performance, or
behavioral changes.
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 32
33. Clinical Manifestations
other features
• Hemolysis may be an initial manifestation
• Manifestations of Fanconi syndrome and
progressive renal failure
• Unusual manifestations include:
- Arthritis
- Endocrinopathies, such as
hypoparathyroidism
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 33
34. Diagnosis
Wilson disease should be considered in children and
teenagers with :
1.Unexplained acute or chronic liver disease,
2. Neurologic symptoms of unknown cause,
3. Acute hemolysis
4.Psychiatric illnesses,
5. Behavioral changes,
6.Fanconi syndrome
7.Unexplained bone disease.
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 34
35. Tests performed for the diagnosis of
Wilson disease
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36. Cont.
• The best screening test is to measure
the serum ceruloplasmin level.
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37. Cont.
• Serum copper level :
>100 μg /day and often up to 1,000 μg or
more per day.
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38. Liver biopsy
• Is of value for :
1.Examination of the histology
2.Measurement of the hepatic copper
content (normally <10 μg/g dry weight).
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39. Screening family members of patients
Should include determination of :
1.Serum ceruloplasmin level
2. Urinary copper excretion.
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40. The first signs due to :
• Hepatic : (40% )
• Neurological : (35% )
• Psychiatric , Renal, Hematological ,
Endocrine ( In the remainder)
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41. Wilson's disease patients before treatment:
reduced excretion and retention
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42. Treatment
Copper-chelating agents:
• Oral administration of penicillamine (β, β-
dimethylcysteine) in a dose of :
* 0.5-0.75 g/day for patients younger than
10 yr.
*1 g/day in two doses before meals for
adults
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43. Wilson's disease patients on chelator therapy:
enhanced urinary excretion of copper
10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 43
44. Toxic effects of penicillamine
• Uncommon and consist of
1.Hypersensitivity reactions (Goodpasture
syndrome, systemic lupus
erythematosus, polymyositis),
2. Interaction with collagen and elastin
3.Deficiency of other elements such as zinc
4.Aplastic anemia
5. Nephrosis
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45. Treatment (cont.)
• For those patients who are unable to
tolerate penicillamine, triethylene
tetramine dihydrochloride
(Trien, TETA, trientine) at a dose of 0.5-2
g/24 hr is an acceptable alternative.
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46. Treatment (cont.)
• Zinc has also been used as adjuvant
therapy or as maintenance therapy owing
to its unique ability to impair the
gastrointestinal absorption of copper.
• Zinc acetate is given in adults at a dose
of 25 to 50 mg three times a day .
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47. Wilson's disease patients on zinc therapy:
enhanced fecal excretion of copper
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48. Remember
• Foods such as:
liver, shellfish, nuts, and chocolate
should be avoided
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49. Prognosis
• Untreated patients with Wilson disease die
of the hepatic, neurologic, renal, or
hematologic complications.
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50. Cont.
• The prognosis for patients receiving
prompt and continuous d- penicillamine is
variable and depends on :
* Time of initiation
* Individual responsiveness .
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51. Liver transplantation
• Should be considered for patients with:
1. fulminant liver disease
2. decompensated cirrhosis
3. progressive neurologic disease
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52. In asymptomatic siblings of affected
patients
Early institution of chelation therapy can
prevent expression of the disease.
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53. Remember Wilson disease
1.If "routine liver function tests" are
inexplicably abnormal in a child
2.In a child with haemolysis and negative
Coombs test
3. Changes in mood or school performance
in a teenager, especially with speech
slurring
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54. .
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55. References
• http://www.eurowilson.com/en/living/guide/pathw
ay/index.phtml
• http://www.wilsonsdisease.org/
• http://www.ars.usda.gov/Services/docs.htm?docid
=17477
• http://emedicine.medscape.com/article/183456-
clinical
• http://www.eurowilson.org/data/pdf/For-
medical-professionals.pdf
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56. 10/30/2012 Wilson Disease Prof. Dr. Saad S Al Ani 56
Editor's Notes
Most patients with Wilson disease have decreased ceruloplasmin levels
(usually <40 μg/ day)
In Wilson disease, hepatic copper content exceeds 250 μg/g dry weight. In healthy heterozygotes, levels may be intermediate.
In response to d-penicillamine, urinary copper excretion markedly increases and there may be slow clinical improvement.