Cystinosis is a rare autosomal recessive lysosomal storage disease ,results from mutation in the CTNS gene located at 17p13.2
Estimated incidence reported to be 1 in 100,000–200,000 live births
A lysosomal storage disease caused by acid sphingomyelinase deficiency (ASMD), which catalyzes the hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine.
Cystinosis is a rare autosomal recessive lysosomal storage disease ,results from mutation in the CTNS gene located at 17p13.2
Estimated incidence reported to be 1 in 100,000–200,000 live births
A lysosomal storage disease caused by acid sphingomyelinase deficiency (ASMD), which catalyzes the hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke DiseaseRAHUL KATARIA
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
s an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
Megaloblastic anaemia is a red blood cell disorder due to the inhibition of DNA synthesis during erythropioesis.
Mitotically, the inhibition of the DNA synthesis impaires the progression of the cell cycle development from G2 to (M) stage.
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment.
Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke DiseaseRAHUL KATARIA
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
s an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
Megaloblastic anaemia is a red blood cell disorder due to the inhibition of DNA synthesis during erythropioesis.
Mitotically, the inhibition of the DNA synthesis impaires the progression of the cell cycle development from G2 to (M) stage.
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment.
Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs
Hepatic cysts are abnormal fluid-filled spaces in the hepatic parenchyma and biliary tree
They are categorized into 3 main types:
fibrocystic diseases of the liver
cystadenomas and cystadenocarcinomas
and hydatid cysts
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome,
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
KSS – (Kearns-Sayre Syndrome)
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
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
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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
- 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
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.
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New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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.
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.
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
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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.
3. S L I D E 2
Fanconi syndrome
Growth failure
Episodes of hypovolemia
Persistent acidosis
Chronic hypokalemia
Rickets
Hypophosphatemia
Proteinuria
Glucosuria
4. S L I D E 3
Genetic conditions associated with Fanconi syndrome
Cystinosis
Tyrosinemia
Hereditary fructose intolerance
Galactosemia
Glycogen storage disease (type I)
Wilson disease
Lowe syndrome
7. S L I D E 6
Cystinosis
• Lysosomal storage disease characterized by an accumulation of
cystine in different organs and tissues, leading to severe organ
dysfunction.
• Types:
– Infantile (nephropathic) form (autosomal recessive)
– Late-onset (juvenile) form
– Adult (benign) form
9. S L I D E 8
Kidney Pathophysiology
• The hallmark is accumulation of cystine
crystals within proximal tubular cells (PTCs)
• PTCs loose brush border -> flattened
• Thick basement membrane
• These tubular changes typically begin at the
glomerulotubular junction and extend
distally, evolving to tubular atrophy with
development of characteristic swan neck
deformities
• In addition, heavy inflammatory cell
infiltrates can be observed in the renal
interstitium
Cystine crystals
accumulate within
lysosomes
11. S L I D E 10
Epidemiology
• It is the leading cause of inherited renal Fanconi syndrome in
children (20% of cases of hereditary tubular disorders).
• Nephropathic cystinosis affects 1 of every 100,000 to 200,000
children
• Higher incidence in some regions in France and Quebec in Canada
12. S L I D E 11
Genetics of Cystinosis
• More than 100 different mutations have been identified in the
CTNS gene (Large deletions, missense mutations or in-frame
deletions).
• 57-kb deletion -> complete loss of cystinosin. ~50% of cystinosis
cases in people of European descent.
• 65-kb deletion -> one-third of patients with cystinosis
• Mutations that change very small regions of the CTNS gene may
allow the transporter protein to retain some of its usual activity,
resulting in a milder form of cystinosis.
13. S L I D E 12
Clinical Features
• Normal at birth
• 6–9 months -> Failure to thrive
• 6–18 months -> kidney dysfunction; polyuria and polydipsia, and
vitamin D-resistant rickets
• Renal insufficiency by ~10 years of age if untreated (and at ~20
years of age if cysteamine treatment is initiated before 5 years of
age)
• Deposition of cystine crystals in the cornea occurs early in the
course of disease, causing photophobia and painful corneal
erosions.
• Second to third decade of life -> hypothyroidism, hypogonadism,
diabetes, myopathy, and deterioration of the central nervous
system
15. S L I D E 14
Diagnosis
• Elevated leukocyte cystine level
• Cystine corneal crystals by slit lamp examination
• CNTS gene mutation
16. S L I D E 15
Treatment
• Current therapies
– Supportive therapy
– Cysteamine
– Renal transplant
• Future direction:
– Haematopoietic stem cell transplantation with gene therapy
17. S L I D E 16
Supportive Therapy
• Water intake
• Sodium and potassium bicarbonate supplements
• Phosphate and vitamin-D
• Thyroxine and Growth hormone
• Feeding problems (enteral vs parenteral)
18. S L I D E 17
Cysteamine
• It enters the cell -> concentrates within the lysosomes -> reacts
with cystine to form cysteine-cysteamine complex -> able to leave
the lysosomes.
• It should be started as soon as the diagnosis of cystinosis is
confirmed
• It preserves renal function, prevents hypothyroidism, and improves
growth in affected children
• It has no effect on established renal Fanconi syndrome.
23. S L I D E 22
• Cystine-induced tubular dysfunction does not recur on the graft
24. S L I D E 23
Other types of cystinosis
• Late-onset (juvenile) cystinosis
– Presents around eight years of age with manifestations due to renal
tubular dysfunction
– Progressive decline in GFR, resulting in ESRD by 15 years of age
• Adult cystinosis
– The most benign form
– Patients are generally asymptomatic except for photophobia or ocular
discomfort due to crystal deposition in their cornea
25. S L I D E 24
Summary
• Cystinosis is an autosomal recessive lysosomal
storage disease caused by a defect in the lysosomal
cystine transporter, cystinosin, which results in an
accumulation of cystine in all organs
• Renal Fanconi syndrome often precedes extrarenal
manifestations
• Early recognition and therapy with cysteamine is
important to prevent many long term complications
including ESRD
• In patients who develop ESRD, renal transplantation
is the preferred therapy, as outcome is excellent
Lysosomes are membrane-enclosed organelles that contain an array of enzymes capable of breaking down all types of biological polymers—proteins, nucleic acids, carbohydrates, and lipids. Lysosomes function as the digestive system of the cell, serving both to degrade material taken up from outside the cell and to digest obsolete components of the cell itself.
Physiopathology of cystinosis. Cystinosis is a monogenic hereditary disease caused by mutations or deletions in the ubiquitous gene CTNS. This gene encodes a seven-transmembrane lysosomal protein, which is a proton-driven cystine transporter. However, the physiopathology of cystinosis suggests that cystinosin has other functions and/or other genes influence the pace and extent of the disease. This could explain the high variability in age of the appearance and severity of the complications observed in patients taking cysteamine, which allows cystine to exit the lysosomes. ADP, adenosine diphosphate; ATP, adenosine triphosphate; Pi, inorganic phosphate.
Normally Cystine is derived from protein degradation within the lysosomes of cells. Free cystine is normally transported through the lysosomal membrane to the cytosol where it is reutilized after its transformation to cysteine. In cystinosis, cystine accumulates inside the lysosomes because of a defect in the gene that encodes cystinosin, the protein that transports cystine across the lysosomal membrane. Cystine is poorly soluble and forms crystals as its concentration increases.
Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2
Sodium wasting and severe urinary concentrating defect result in polyuria (reaching 2 to 3 L/day), polydipsia, poor weight gain, growth retardation, vomiting, constipation, weakness, unexplained fever, and acute dehydration episodes. Excessive losses of potassium, sodium, and bicarbonate lead to hypokalemia, hyponatremia, and metabolic acidosis. Vitamin D-resistant rickets (manifested by swelling of the wrists, frontal bossing, and genu valgum) is often noted at presentation due to phosphate wasting and hypophosphatemia.
Nonrenal findings include ocular abnormalities, hepatomegaly, hypothyroidism, muscle weakness, and growth retardation.
Cysteamine therapy before five years of age significantly decreased the incidence and delayed the onset of ESRD, and delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. In addition, the life expectancy was significantly improved in cysteamine-treated versus untreated patients