This document summarizes several neurocutaneous syndromes including von Hippel-Lindau disease, neurofibromatosis type 1 and 2, tuberous sclerosis complex, Sturge-Weber syndrome, and Bourneville's disease. It describes the characteristic clinical features of each syndrome such as café au lait spots, tumors, hamartomas and visual or neurological disturbances. Diagnosis is based on the presence of specific lesions and symptoms. Screening recommendations are provided for early detection and treatment of complications.
visual field- its assessment, defects, diseases associated. Types of visual field defects. visual field defects in glaucoma in detail. Humphrey's visual field analyser chart.
TSC is neurocutaneous hereditary disorder either AD or sporadic characterized by multiple hamartomatous growths affecting skin, brain, heart, lung & kidney
visual field- its assessment, defects, diseases associated. Types of visual field defects. visual field defects in glaucoma in detail. Humphrey's visual field analyser chart.
TSC is neurocutaneous hereditary disorder either AD or sporadic characterized by multiple hamartomatous growths affecting skin, brain, heart, lung & kidney
TUBEROUS SCLEROSIS
Cutaneous Features
Neurological Features
Retinal Features
Systemic Features
NEUROFIBROMATOSIS
Cutaneous Features of Neurofibromatosis Type 1
Systemic Features of Neurofibromatosis Type 1
Neurological Features in Neurofibromatosis Type 1
Clinical Features of Neurofibromatosis Type 2
STURGE-WEBER SYNDROME
Cutaneous Features
Ocular Features
Neurological Features
Diagnostic Studies
Treatment
VON HIPPEL-LINDAU SYNDROME
Neurological Features
Ocular Features
Systemic Features
Molecular Genetics
Treatment
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Neurological Features
Treatment
HYPOMELANOSIS OF ITO
Cutaneous Features
Neurological Features
Systemic Features
INCONTINENTIA PIGMENTI
Cutaneous Features
Neurological Features
Genetics
ATAXIA-TELANGIECTASIA
Cutaneous Features
Neurological Features
Immunodeficiency and Cancer Risk
Laboratory Diagnosis
EPIDERMAL NEVUS SYNDROME
Cutaneous Features
Neurological Features
Other Features
Neuroimaging
NEUROCUTANEOUS MELANOSIS
Cutaneous Features
Neurological Features
Laboratory Findings
Neuroimaging
EHLERS-DANLOS SYNDROME
Neurovascular Features
CEREBROTENDINOUS XANTHOMATOSIS
Neurological Features
Xanthomas
Other Clinical Features
Treatment
PROGRESSIVE FACIAL HEMIATROPHY
Clinical Features
KINKY HAIR SYNDROME (MENKES DISEASE)
Cutaneous Features
Other Clinical Features
Neurological Features
Neuroimaging
Genetic Studies
Diagnosis and Treatment
XERODERMA PIGMENTOSUM
Complementation Groups
Related Syndromes
Cutaneous and Ocular Features
Treatment
OTHER NEUROLOGICAL CONDITIONS WITH CUTANEOUS
MANIFESTATIONS
Phakomatosis: Brief overview about Radiological PerspectivesWaseem M.Nizamani
Radiological Presentation/tutorial with introduction to Phakomatoses and most common subtypes and their imaging features. Area of interest Radiology and Neurology 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.
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
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.
Follow us on: Pinterest
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
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.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
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.
- 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
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
2. A group of independent clinical syndromes
characterized by multiple tumors, some of
which are or can become malignant, arising in
disparate organs of the body
These disorders produce significant visual and
neurologic disturbances.
3. It’s a neuro-oculo-cutaneous syndromes
Multisystem disorders that have characteristic
CNS, ocular & cutaneous lesions of variable
severity
Tissues involved share ectodermal origin to
some degree
4. The term, from the Greek φακός, phakos, "spot,
lens", suffix-(o)ma (-ωμα) and the suffix -osis,
also called "Mother's spot" or "Birth mark" was
introduced by Jan van der Hoeve in 1923,
before the distinct genetic basis of each of these
diseases was understood.
8. Von Recklinghausen’s neurofibromatosis
Classic neurofibromatosis
Peripheral neurofibromatosis
The most common type of the two affecting 1/
(3500-4000)
Abnormal long arm of chromosome 17
9. Characterized by
café au lait spots,
axillary and inguinal freckling,
Lisch nodules of the iris,
several types of cutaneous neurofibromas,
optic nerve gliomas,
neurofibromas of the CNS
10. Six or more café au lait spots larger than 1.5 cm
in diameter are generally considered diagnostic
of NF-1.
Axillary and inguinal freckling are present in
about 90% to 95% of affected individuals.
Congenital or infantile glaucoma appears to be
more common in patients with this syndrome.
Some affected patients develop multifocal
bilateral melanotic fundus lesions as a feature
of the syndrome
11.
12. Melanocytic hamartomas of the iris stroma
present in over 95% of adult patients
appear as tan to light brown nodules studding
the surface of the iris
Rarely if ever present at birth but tend to
develop by the second to third decades of life
in almost all persons with NF-1
13. Present in 10-15%
The optic nerve gliomas in NF-1 tend to cause
proptosis and optic atrophy in early childhood.
Sometimes bilateral
Occasionally arise from the optic chiasm or
tracts instead of the optic nerves proper
14.
15. Postcontrast T1W axial MRI image of the orbits (A) shows an
enhancing mass (thick small arrows) around the left optic nerve.
The optic nerve (thin long arrow) itself is not enlarged and is
nonenhancing. This is suggestive of a mass, such as a
meningioma, arising from the optic nerve sheath. Axial T2W
MRI image of the orbits in a different patient (B) shows fusiform
enlargement of the left optic nerve itself (arrows), in a case of
optic nerve glioma
16. Central neurofibromatosis
Affecting 1/50.000
Abnormal long arm of chromosome 22
Typified by bilateral acoustic neuromas and
widely scattered neurofibromas, meningiomas,
gliomas, and schwannomas.
The most consistent problem suffered by patients
with NF-2 is sensorineural deafness due to the
acoustic neuroma (vestibulocochlear
schwannoma)
17. Ophthalmologic findings in NF-2 are
uncommon.
Several young patients with NF-2 have been
found to have a combined hamartoma of the
retina in one or both eyes.If the lesion involves
the macula, the vision tends to be poor
18. Presumed combined hamartoma of
neurosensory retina and retinal pigment
epithelium in a child with neurofibromatosis
type 2
19.
20. BOURNEVILLE'S DISEASE
The complete syndrome is characterized by
multifocal, bilateral retinal astrocytic hamartomas,
several unusual cutaneous lesions,
astrocytic tumors of the brain,
mental retardation,
seizures,
a variety of cysts and tumors of other organs.
The clinical spectrum is extremely broad,
ranging from minimal to marked
21. The prevalence is at least 1 in 10,000.
1/3rd
are familial, whereas 2/3rd
are sporadic
No racial predilection
Signs and symptoms of tuberous sclerosis
usually begin before the patient is 6 years old
22. The classic triad of
epilepsy,
mental retardation
adenoma sebaceum
present in only a minority of patients, but is
diagnostic
25. Ash leaf spots are hypopigmented macules on
the trunk,limbs and scalp.
With sparse skin pigmentation they are best
detected using ultraviolet light, under which
they fluoresce (Wood lamp).
32. The classic ophthalmoscopic feature
Arises within RNFL in the posterior fundus
Extremely slow growth
Small lesions commonly appear as translucent intraretinal
patches with minimal thickness.
Intralesional calcification develops within some larger
lesions.
Multiple lesions can be present in one eye, and many
affected patients have binocular involvement.
Approximately one half of patients with tuberous
sclerosis have at least one typical astrocytic retinal
hamartoma.
33.
34.
35.
36. Inherited VHL is autosomal dominant
20% are sporadic.
It is caused by a mutation in the VHL tumour
suppressor gene on chromosome 3.
37. Clinical hallmarks of VHL disease include
Retinal and CNS hemangioblastomas (blood vessel
tumors),
Pheochromocytomas,
Multiple cysts in the pancreas and kidneys,
Increased risk for malignant transformation of renal
cysts into renal cell carcinoma
38. CNS & Retinal haemangioma
Phaeochromocytoma.
Renal carcinoma and pancreatic islet cell carcinoma.
Cysts of the testes, kidneys, ovaries, lungs, liver and
pancreas.
Polycythaemia, which may be the result of factors
released by a cerebellar or renal tumour.
Endolymphatic sac tumours develop in the inner ear
in 10%, with consequent hearing and balance
difficulties
No typical skin lesion
39.
40. The hallmark of the mature tumor is a pair of
markedly dilated vessels (artery and vein)
running between the lesion and the optic disc,
indicating Significant arteriovenous shunting
41. Retinal lesions usually become visible
ophthalmoscopically between ages 10 and 35
years, about a decade before the peak clinical
incidence of cerebellar disease.
Tumors are multiple in the same eye in about
one-third of cases and bilateral in as many as
one-half of cases.
Tumors typically occur in the peripheral
fundus, but lesions adjacent to the optic disc
have also been described.
42. Annual physical examination,
retinal examination from age 2 to 5 years (6-monthly
from ages 10 to 30 years),
renal ultrasonography from age 15 years,
24-hour urine collection for estimation of vanillyl
mandelic acid and catecholamine levels from age 2 to 5
years to detect phaeochromocytoma.
Audiometry should be performed if there are any
hearing or balance problems.
Two-yearly abdominal and brain MRI scans from
the age of 15; if CNS lesions are symptom-free,
treatment may not be required
43. It is thought safe to discontinue screening at
around age 60 years if no abnormality has been
identified
Genetic testing is indicated in all patients with
suspected VHL and in first- and second-degree
relatives
Screening is unnecessary if the mutation is
absent
44.
45. Encephalotrigeminal angiomatosis
Congenital, sporadic phacomatosis
Characterized by:
cutaneous facial nevus flammeus in the distribution
of the branches of the trigeminal nerve,
ipsilateral cavernous hemangiomas of the meninges
and the choroid,
ipsilateral congenital, infantile, or juvenile glaucoma
The lesions in the eye, skin, and brain in SWS
are always present at birth unlike other
phacomatoses
46. facial nevus flammeus
flat to moderately thick zone of dilated telangiectatic
cutaneous capillaries
unilateral
involves the regions of the face innervated by the
first, occasionally the first and second, and rarely all
three branches of the trigeminal nerve
47. Ipsilateral leptomeningeal hemangiomatosis
Atrophy of cortical parenchyma
Lesions present at birth, detected by MRI or CT
Meninges become irregularly calcified,
detected by Skull radiographs
48.
49. Glaucoma (70%)
Choroidal hemangioma,
generalized hemangiomatous thickening of the choroid
that tends to be most pronounced near or around the
optic disc and in the macula
Deeper saturated red appearance of the involved
fundus
Deep central cupping due in large part to the
thickening of the circumpapillary choroid
Dilated tortuous retinal blood vessels
Telangiectasia of the conjunctiva and episclera
50.
51.
52.
53.
54.
55. 1. Glaucoma,
2. Cystic degeneration of the macular retina,
3. Nonrhegmatogenous retinal detachment
The glaucoma tends to occur early in life and be
resistant to conventional forms of treatment.
May be caused by angle dysgenesis leading to
elevated episcleral venous pressure
The detachment tends to become chronic with
displacement of the detached retina up against
the back surface of the lens in severe cases
56. Glaucoma developing as part of SWS needs a
filtering procedure or even a cyclodestructive
procedure in most patients
If an exudative bullous retinal detachment
develops, then low-dose external beam
radiation therapy appears to be the most
appropriate therapy
57.
58. Racemose haemangioma
Sporadic congenital malformation, with unilateral
involvement in single or multiple sites of the same eye,
most commonly temporally.
Complications
haemorrhage,
exudation
vascular occlusion,
vision is commonly unaffected and the condition discovered at
a routine examination
visual field defect may be present
Some patients may harbour ipsilateral brain, facial
bone and skin lesions (Wyburn-Mason syndrome),
particularly those with more severe retinal changes