This document provides information about congenital adrenal hyperplasia (CAH), a genetic disorder where the adrenal glands do not produce essential hormones like cortisol properly. It discusses the relevance, signs and symptoms, diagnosis, and treatment of CAH. CAH can range from mild to life-threatening and is treated through hormone replacement and supplements. Proper treatment is necessary for patients to live normal lives, though genetic counseling is recommended for family planning due to the hereditary nature of the condition.
The Types and Symptoms of Congenital Adrenal HyperplasiaJames Raphalian
Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice.
Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes.
The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding.
Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary.
By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
The Types and Symptoms of Congenital Adrenal HyperplasiaJames Raphalian
Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice.
Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes.
The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding.
Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary.
By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
A Confusing Case of Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli, K Kaushal, FC Wu # Department of Endocrinology ^ Manchester Royal Infirmary * Best Endocrinologist in Hyderabad
INBORN ERRORS OF METABOLISM, PKU, PHENYLKETONURIA, BY: MR. DINABANDHU BARAD, MSC TUTOR, SUM NURSING COLLEGE, SIKSHA O ANUSANDHAN DEEMED TO BE UNIVERSITY, BHUBANESWAR, ODISHA
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Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
A Confusing Case of Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli, K Kaushal, FC Wu # Department of Endocrinology ^ Manchester Royal Infirmary * Best Endocrinologist in Hyderabad
INBORN ERRORS OF METABOLISM, PKU, PHENYLKETONURIA, BY: MR. DINABANDHU BARAD, MSC TUTOR, SUM NURSING COLLEGE, SIKSHA O ANUSANDHAN DEEMED TO BE UNIVERSITY, BHUBANESWAR, ODISHA
Implications of Tay-Sachs Disease: A Case Study for Public Knowledge Adam Green
In this presentation and quiz bowl, I explain what Tay-Sachs Disease is, how it is determined, how lethal it is, and possible treatment options. I also provide an overview of basic genetics, molecular biology, and a few experimental techniques! Enjoy! At the end of each of section, there are quiz questions. So break into teams and enjoy the presentation!
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.
Disorders of amino acid metabolism
Disorders of renal amino acid transport
Disorders of carbohydrate metabolism and transport
Carbohydrate-deficient protein syndromes
carbohydrate metabolism and transport
Disorders of fatty acid oxidation
Disorders of purine and pyrimidine metabolism
Disorders of lipid and lipoprotein metabolism
Ceroid lipofuscinosis and other lipidoses.
Disorders of serum lipoproteins
Lysosomal disorders
Peroxisomal disorders
Disorders of metal metabolism
Porphyrias
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
Introduce on anatomy and physiology of the adrenal gland.
Brief on etiologies and Classification of adrenal insufficiency.
Brief on clinical manifestations, diagnosis, and treatment of adrenal insufficiency.
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Diagnosis and Management of Congenital Adrenal Hyperplasia in the Child and A...Apollo Hospitals
Congenital adrenal hyperplasia is due to 21-hydroxylase deficiency in > 90% of cases. This is a very common
genetic disorder for which biochemical screening is now performed. The classical form occurs in 1:15,000–16,000
live births, while the nonclassical form occurs in 1:1000. Congenital adrenal hyperplasia is the most common cause
of primary adrenal insufficiency in childhood. Undertreatment of the condition leads to acute risk of adrenal crisis and to long-term risk of short adult stature and infertility, whereas overtreatment is associated with short stature, obesity and other effects of hypercortisolism, including, but not limited to, osteoporosis.
THIS PRESENTATION IS FOCUSSES ON CONGENITAL HYPERPLASIA, ITS DEFINITION, EPIDEMIOLOGY, ITS TYPES, PATHOGENESIS DIAGNOSIS AND MANAGEMENT OPTIONS IT DESCRIBES HOW CAH AFFECTS ON BODY, AND HOW BODY RESPONSES TO THIS CONDITION THIS IS THE CONDITION IN WHICH ADRENOMEGALY IS SEEN
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
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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
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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.
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.
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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
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Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
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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/
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3. RELEVANCE
Over the past 3 weeks I met one of the doctors in PMW where I found them
dealing with CAH case, I was interested to know more about this condition,
we discussed it and they provided more information to me. I found it very
important to come and make a presentation about this condition as a means
of providing educational information to pharmacy community
This condition its rare but when it appears it comes very strongly and deadly
4. CONGENITAL ADRENAL HYPERPLASIA
A group of genetic disorders in which the 2 adrenal glands do not work
properly, They cannot efficiently produce hormones essential for body
functions, the two most important hormones in this condition are, cortisol
and aldosterone
It’s a recessive (masked by a dominant trait) genetic disorder, people inherit
one gene that causes this disorders from each of their parents
Carriers of the trait show no symptoms but when one has double this gene
problems begin to occur.
People with CAH lack enzyme steroid 21-hydroxylase resulting in low
production of hormone cortisol which helps the body to respond to stress
5.
6.
7. CONGENITAL ADRENAL HYPERPLASIA
CONT…
Adrenocorticotropic hormone drives the synthesis and secretion of cortisol as
well as androgens from the adrenal gland.
In CAH due to 21 hydroxylase deficiency, excess of ACTH leads to
overandrogenization.
CAH is due to the enzymatic defect in the cortisol synthesis pathway, with
subsequent hypocortisolism, ACTH overproduction, accumulation of androgen
precursors, and adrenal gland hyperplasia.
8. Pro-opiomelanocortin (POMC) is chemical synthesized by the adenohypophysis
which is a precursor of circulating melanocyte stimulating hormone (a-MSH),
adrenocorticotropin hormone (ACTH) and other hormones. It is cleaved by
prohormone convertase to yield ACTH and MSH
9.
10. TYPES OF CAH 21-HYDROXYLASE
DEFICIENCY
CLASSIC CAH: found in infancy or early childhood, most severe type of CAH
1.Salt wasting; adrenal glands do not produce enough cortisol and aldosterone
hence the body is unable to keep right amount of salt and water in the blood.
2.Non-salting wasting; enzyme shortage is less severe and the adrenal glands
make just enough aldosterone but not enough cortisol.
Classic CAH can cause shock, coma and death if not diagnosed and treated early
11. SIGNS AND SYMPTOMS OF CLASSIC CAH
Female infants; it can be diagnosed at birth because of visible ambiguous
genitalia but still have normal internal female organs
Male infants; usually appears normal at birth, though he may have an
enlarged penis. If not diagnosed in infancy baby may grow rapidly and show
signs of early puberty.
If infant not diagnosed and treated appropriately at birth may experience the
following: vomiting, weight loss, dehydration, shock and death.
12. NON CLASSIC CAH: It is mild and not life threatening, signs and symptoms
might not appear until childhood or adulthood
Not associated with genital abnormalities at birth and not detected in most
new born screening programs
LIKELY SIGNS AND SYMPTOMS:
o Early development of armpit and pubic hair
o Rapid growth during childhood
o Can develop severe acne
o Adolescent girls and adult women also may have masculine characteristics
such as facial hair, acne, or deep voice, may experience infrequent or absent
menstrual periods
13. TREATMENT OF BOTH CLASSICAL AND
NON CLASSIC CAH
Goals for treatment is to help maintain balanced hormone levels and promote
normal growth in children.
People with classic CAH require glucocorticoids to replace the cortisol that
the body can not make
The patient especially those with the salt-wasting form, also need medicines
called mineralocorticoids.
Infants need salt supplements
Treatment with glucocorticoids at physiological doses is life saving but is not
sufficient to suppress the elevated ACTH levels and androgen overproduction
For patients with non classical CAH, they may show no symptoms and require
no treatment while others need low dose of glucocorticoids and might not
need life-long treatment.
15. PREDISPOSING FACTORS
A positive family history is the only risk factor for congenital adrenal
hyperplasia
16. DIAGNOSIS OF CAH
blood test
Urine test
Physical examination
Family history
17. CONCLUSION
Although CAH can be life threatening, most people with it can lead normal
lives with proper treatment
Genetic counselling is recommended for parents who have congenital adrenal
hyperplasia and are contemplating starting a family
It is important to remember that treatment before birth is often
recommended
