Retinitis pigmentosa is a group of inherited retinal diseases characterized by progressive degeneration of the photoreceptors. It initially affects rods, resulting in night blindness and peripheral vision loss, and later involves cones leading to tunnel vision. Symptoms include nyctalopia and peripheral field defects. Signs include bone spicule pigmentation, arteriolar attenuation, and disc pallor. It can be inherited in autosomal dominant, recessive or X-linked patterns. Investigations include electroretinography to detect photoreceptor dysfunction and optical coherence tomography. There is currently no cure or treatment to stop progression.
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.
Aphakia and its causes. Correction of Aphakia. Advantages and disadvantages of different corrections. Surgeries and related signs and symptoms of aphakia. Complications related to Aphakia.
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.
Aphakia and its causes. Correction of Aphakia. Advantages and disadvantages of different corrections. Surgeries and related signs and symptoms of aphakia. Complications related to Aphakia.
Retinitis pigmentosa is rare heritable diseases which affect photoreceptor and make the patient unable to see normally in dimlight then loss of vision.
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
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
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
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.
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.
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.
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
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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
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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. Retinitis Pigmentosa
• Inherited diffuse retinal degenerative diseases
• Most common hereditary fundus dystrophy
(1/5.000)
• Initially predominantly affecting the rod
photoreceptors, with later degeneration of cones
• May occur as
–AD
–AR
–XLR
–Sporadic
3. Modes of inheritence
• XLR is the least common but most severe form,
and may result in complete blindness by the
third or fourth decades
• AR disease can also be severe
• Sporadic cases may have a more favourable
prognosis, with retention of central vision until
the sixth decade or later
• AD disease generally has the best prognosis
4. Symptoms
• Nyctalopia and dark adaptation difficulties are
frequently presenting symptoms
• Mid-peripheral then far-peripheral field loss
• reduced central vision (late)
• Cataract
• Photopsia
6. Progression
• Bilateral mid-peripheral intraretinal perivascular
‘bone-spicule’ pigmentary changes with
arteriolar narrowing
• Then a gradual increase in density of the
pigment
• Anterior and posterior spread
• Peripheral pigmentation may become severe,
with marked arteriolar narrowing and disc pallor
7.
8.
9.
10. • The macula may show
• Atrophy
• epiretinal membrane formation
• cystoid macular oedema (CMO)
• Myopia is common.
• Optic disc drusen occur more frequently
14. ERG
• Sensitive diagnostic test
• Early reduced scotopic rod and
combined responses
• With progression photopic responses
also reduce
15.
16. EOG
• Measurement of standing potential between the
cornea and the retina
measurement of function of the RPE and
photoreceptors
• Abnormal in RP
• However, ERG is considered a more sensitive
test for detection of photoreceptor function and
consequently EOG is not routinely done
17. Visual field
• Characteristically shows a ring scotoma in the
mid-periphery of the visual field
• Start as a group of isolated scotomas around 20
degrees from fixation, and gradually coalesce to
form a partial followed by a complete ring
• Useful in monitoring the progression of disease
and document the status of legal blindness
19. Treatment
• Many treatments have been explored without
proven benefit
• These include various vitamins and minerals,
vasodilators, tissue therapy with placental
extract, cortisone, cervical sympathectomy,
injections of a hydrolysate of yeast RNA,
ultrasound, transfer factor, dimethyl sulfoxide,
ozone, muscle transplants, and subretinal
injections of fetal retinal cells
21. Usher syndrome
• About 15% to 20% of affected individuals with retinitis
pigmentosa have associated hearing loss
• There are three major types;
• Type I (75%) which features profound congenital
sensorineural deafness and severe RP with an
extinguished ERG in the first decade plus unintelligible
speech & vestibular ataxia
• Type III (2%), with progressive hearing loss, vestibular
dysfunction and relatively late-onset pigmentary
retinopathy
22. Kearns–Sayre syndrome
• Part of chronic progressive external
ophthalmoplegia
• Mitochondrial inheritance
• Abnormalities include
• Ptosis
• diffuse disturbance of the RPE
• ERGs that are usually reduced in amplitude
• respiratory distress
• heart block which may require a pacemaker
23. Bassen–Kornzweig syndrome
• Abetalipoproteinaemia
• Malabsorption of fat and fat-soluble vitamin
• Develops FTT in infancy
• The fundus exhibits scattered white dots
followed by RP-like changes developing towards
the end of the first decade; there may also be
ptosis, ophthalmoplegia, strabismus and
nystagmus
24. Refsum disease
• The patient accumulates exogenous phytanic acid
• Findings include a peripheral neuropathy, ataxia, an increase
in CSF protein with a normal cell count, and retinitis
pigmentosa
• All have elevated serum phytanic acid
• A defect exists in the conversion of phytanic acid to alpha-
hydroxy phytanic acid which results in its accumulation
• Treatment consists of restricting not only animal fats and
milk products (i.e., foods that contain phytanic acid) but also
green leafy vegetables containing phytol
25. Bardet–Biedl syndrome
• Includes RP, mental retardation,
polydactylism, apple-shaped obesity, and
hypogonadism
• Almost 80% have severe changes by the
age of 20 years
26. Retinitis pigmentosa sine
pigmento
• Sine pimento = Without pigment
• Absence or paucity of pigment accumulation
• May subsequently appear with time
• Functional manifestations are similar to typical
RP
27.
28. Retinitis punctata albescens
• Albescens = whitish
• Scattered whitish-yellow spots, most
numerous at the equator, usually sparing
the macula, and associated with arteriolar
attenuation
• Nyctalopia and progressive field loss occur
29.
30. Sector retinitis pigmentosa
• Sectoral RP
• AD
• Characterized by involvement of inferior
quadrants only
• Progression is slow (many cases are
apparently stationary)
• Unilateral RP can also occur
31.
32. Leber congenital amaurosis
• Severe rod-cone dystrophy
• The commonest genetically defined cause of
visual impairment in children
• ERG is usually non-recordable even in early cases
• Systemic associations include
• mental handicap, deafness, epilepsy, central
nervous system and renal anomalies, skeletal
malformations and endocrine dysfunction
33. • Presentation
• Blindness at birth or early infancy
• associated with roving eye movements or
nystagmus
• Photoaversion
• Cataract
• Hypermetropia
• Nestagmus
34. • Signs are variable but may include:
• Absent or diminished pupillary light reflex
• The fundi may be normal in early life apart from mild
arteriolar narrowing
• Initially mild peripheral pigmentary retinopathy, salt
and pepper changes, and less frequently yellow flecks
• Severe macular pigmentation
• Pigmentary retinopathy, optic atrophy and severe
arteriolar narrowing in later childhood
• Oculodigital syndrome: constant rubbing of the eyes
may cause orbital fat atrophy with enophthalmos, and
subsequent keratoconus or keratoglobus
35.
36.
37. Pigmented paravenous
chorioretinal atrophy
• Pigmented paravenous chorioretinal atrophy
• Usually asymptomatic and non-progressive
• ERG is normal
• Paravenous bone-spicule pigmentation together
with sharply outlined zones of chorioretinal atrophy
that follow the course of the major retinal veins
• Changes may also encircle the optic disc
• The optic disc and vascular calibre are usually
normal