DSD (Disorders of sexual development), Intersex.pptxAhmed Nasef
this presentation contain full, easy & simple description for the various disorders of sexual differentiation (DSD),
intersex
intersexuality
true hermaphroditism
false hermaphroditism
ambiguous genitalia ( causes, how to manage)
criteria for normal male development
criteria for normal female development
sweyer syndrome
testicular feminization syndrome
5 alpha reductase deficiency
testicular regression syndrome
ovotestis
this for undergraduates, postgraduates, General practitioners, doctors, obstetricians, gynecologists& nurses,
DSD (Disorders of sexual development), Intersex.pptxAhmed Nasef
this presentation contain full, easy & simple description for the various disorders of sexual differentiation (DSD),
intersex
intersexuality
true hermaphroditism
false hermaphroditism
ambiguous genitalia ( causes, how to manage)
criteria for normal male development
criteria for normal female development
sweyer syndrome
testicular feminization syndrome
5 alpha reductase deficiency
testicular regression syndrome
ovotestis
this for undergraduates, postgraduates, General practitioners, doctors, obstetricians, gynecologists& nurses,
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.
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
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
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
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.
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
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.
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.
2. DEFINITION OF DSD
(DSDs) are defined as conditions involving the following elements:
1. Ambiguous genitalia (e.g., 46,XX virilizing congenital adrenal
hyperplasia; clitoromegaly; micropenis)
2. Congenital disjunction of internal and external sex anatomy
(e.g., Complete Androgen Insensitivity Syndrome; 5-alpha
reductase deficiency)
3. Incomplete development of sex anatomy (e.g., vaginal
agenesis; gonadal agenesis)
4. Sex chromosome anomalies (e.g., Turner Syndrome;
Klinefelter Syndrome; sex chromosome mosaicism)
5. Disorders of gonadal development (e.g., ovotestes)
P.N 2
3. 1. DSD conditions usually present with:
1. Atypical genitalia in the newborn period
or
2. Delayed puberty in an adolescent.
2. DSDs include anomalies of
1. The sex chromosomes,
2. The gonads,
3. The reproductive ducts (internal genitalia)
4. The external genitalia.
P.N 3
4. CLASSIFICATION OF DSD
BY THE CHICAGO CONSENSUS IN 2005.
There are three broad groups:
1. Sex chromosome DSD,
2. 46, XX DSD, (formerly known as female
pseudohermaphroditism) and
3. 46, XY DSD (formerly known as male
pseudohermaphroditism)
P.N 4
6. 2. Disorder of Ovarian Development
1. XX gonadal dysgenesis
2. Testicular DSD (SRY+, SOX9 duplication)
3. Undetermined Origin: Associated with genitourinary
and gastrointestinal tract defects
P.N 6
7. 46,XY DSD
(formerly known as male pseudohermaphroditism)
1. Defects in Testicular Development
2. Deficiency of Testicular Hormones
3. Defect in Androgen action
(contd)
P.N 7
8. Defects in Testicular Development
1. Denys-Drash syndrome (mutation in WT1 gene)
2. WAGR syndrome (Wilms tumor, aniridia, genitourinary
malformation, retardation)
3. Deletion of 11p13
4. Campomelic syndrome (autosomal gene at 17q24.3-q25.1) and
SOX9 mutation
5. XY pure gonadal dysgenesis (Swyer syndrome)
6. Mutation in SRY gene
7. XY gonadal agenesis
8. Unknown cause
P.N 8
9. Deficiency of Testicular Hormones
1. Leydig cell aplasia
2. Mutation in LH receptor
3. Lipoid adrenal hyperplasia (P450scc or CYP11A1)
deficiency; mutation in StAR (steroidogenic acute
regulatory protein)
4. 3β-HSD II deficiency
5. 17-Hydroxylase/17,20-lyase (P450c17 or CYP17)
deficiency
6. Persistent müllerian duct syndrome:
1. Antimüllerian hormone gene mutations
2. Receptor defects for antimüllerian hormone
P.N 9
10. Defect in Androgen action
1. Dihydrotestosterone deficiency because of 5α-
reductase II mutations or AKR1C2/AKR1C4 mutations
2. Androgen receptor defects:
a. Complete androgen insensitivity syndrome
b. Partial androgen insensitivity syndrome (Reifenstein
and other syndromes)
3. Smith-Lemli-Opitz syndrome (defect in conversion of 7-
dehydrocholesterol to cholesterol, DHCR7)
P.N 10
11. Sex Chromosome DSD
1. 45,X (Turner syndrome and variants)
2. 47,XXY (Klinefelter syndrome and variants)
3. 45,X/46,XY (mixed gonadal dysgenesis, sometimes a
cause of ovotesticular DSD)
4. 46,XX/46,XY (chimeric, sometimes a cause of
ovotesticular DSD)
P.N 11
12. Ovotesticular DSD
(the simultaneous presence in the same individual of
both, histologically proven, testis and ovary.)
1. XX
2. XY
3. XX/XY chimeras
P.N 12
13. EVALUATION
(AMBIGUOUS GENITALIA)
1. Definition. Ambiguous genitalia are present when the
sex of an infant is not readily apparent after
examination of the external genitalia.
2. Incidence.
1. Congenital adrenal hyperplasia is the most
common cause 1 in 14,000 to 1 in 28,000,
followed by
2. androgen insensitivity and
3. mixed gonadal dysgenesis.
4. Hypospadias (1 in 300 births, but only a minority
of these patients has DSD)
P.N 13
14. Embryology
1. The early fetu (XX or XY), is bipotential and can undergo either
male or female differentiation.
2. The innate tendency of the embryo is to differentiate along
female lines
3. If the Y chromosome (having SRY gene) is present, the gonads
differentiate as testes.
4. The testes then produce testosterone, which is converted to
dihydrotestosterone (DHT) in the target organ cells by 5α-
reductase.
5. DHT induces male differentiation of the external genitalia. The
testes descend behind the peritoneum and normally reach the
scrotum by the eighth or ninth month.
P.N 14
15. 6. In the female fetus, where the Y chromosome/SRY
gene is absent, the gonads form ovaries (even in 45,X
Turner syndrome, histologically normal ovaries are
present at birth).
7. As ovaries do not produce testosterone, female
differentiation proceeds.
8. Two X chromosomes are needed for further
differentiation of ovaries.
9. If part or all of the second X chromosome is missing,
ovarian development fails, resulting in atrophic,
whitish, streaky gonads by 1–2 years of age.
P.N 15
16. 10. Normal male.
1. At ~9 weeks postconceptional age, in the presence DHT,
masculinization begins with lengthening of the anogenital
distance.
2. The urogenital and labioscrotal folds fuse in the midline,
leading to the formation of the scrotum and the penis.
11. Normal female.
1. In the female fetus, the anogenital distance does not
increase.
2. The urogenital and labioscrotal folds do not fuse and instead
differentiate into the labia majora and minora.
3. The urogenital sinus divides into the urethra and the vagina.
P.N 16
17. Pathophysiology
1. Virilization of female infants (female pseudo
hermaphroditism):
a. Many belong to this group. They have a 46,XX
karyotype, are SRY negative, and have exclusively
ovarian tissue.
b. The most common cause of excess fetal androgens is
congenital adrenal hyperplasia (CAH)
c. Most common cause of CAH is is 21-hydroxylase
deficiency
P.N 17
18. 2. Inadequate virilization of male infants (male pseudohermaphroditism).
a. These patients have a 46,XY karyotype and exclusively testicular
tissue.
b. Inadequate androgen production
1 3β-HSD II deficiency
2 17-Hydroxylase/17,20-lyase (P450c17 or CYP17)
deficiency
3 Deficiency of Müllerian-inhibiting substance
c. Testicular unresponsiveness to human chorionic gonadotropin
(hCG) and luteinizing hormone (LH)
d. Anorchia (absent testes caused by loss of vascular supply to the
testis during fetal life).
e. Incomplete end-organ response to androgen.
f. Decreased end-organ response to androgen
g. 5α-Reductase deficiency
P.N 18
19. 3. Disorders of gonadal differentiation:
1. True hermaphroditism. The presence of both a testis and
an ovary (or ovotestes) in the same individual: 46,XX or
mosaics of 46,XX/45,X/46,XY/multiple X/multiple Y
2. Gonadal dysgenesis: pure and mixed
3. Chromosome abnormalities, syndromes, and associations:
trisomies 13 and 18, triploidy
4. Single-gene disorders and syndromes: Smith-Lemli-Opitz
syndrome, Rieger syndrome, CHARGE syndrome
5. Camptomelic dysplasia
6. VATER/VACTERL association
P.N 19
20. Clinical presentation
1. History.
a. Family history of early neonatal deaths (a death in early
infancy accompanied by vomiting and dehydration may be
secondary to CAH),
b. Consanguinity of the parents (increased risk for autosomal
recessive disorders), and female relatives with amenorrhea
and infertility (male pseudohermaphroditism or
chromosomal anomalies)
c. Ingestion or topical use of drugs during pregnancy
(particularly androgens or progestational agents).
P.N 20
21. Physical examination
1. General examination.
a. Dysmorphic features (syndromes and chromosomal
abnormalities),
b. Hypertension or hypotension, areolar hyperpigmentation,
and signs of dehydration (as signs of CAH).
2. Gonads:
a. The number, size, and symmetry of gonads should be
evaluated.
b. Palpable gonads below the inguinal canal are usually
testes.
c. Ovaries are not found in scrotal folds or in the inguinal
region. However, the testes may be intra-abdominal.
P.N 21
22. Gonads contd.
d. Phallus length: Measured from the pubic ramus to the tip of the
glands, a stretched penile length in a full-term infant should be
≥2.0 cm.
e. Urethral meatus: Look for hypospadias (usually accompanied by
chordee).
f. Labioscrotal folds:
1. Range from unfused labia majora, variable degrees of
posterior fusion, and bifid scrotum to fully fused, normal-
appearing scrotum.
2. The presence of a vaginal opening or urogenital sinus should
be determined.
3. A rectal examination, to determine presence of a uterus,
may be considered. P.N 22
23. Laboratory studies
1. Initial evaluation. chromosome analysis; Fluorescent in situ
hybridization techniques
2. Detection of SRY gene material in 46,XX phenotypic males and in
a 45,X
3. Buccal smears are unreliable and therefore obsolete
4. 17-hydroxyprogesterone (17-OHP), testosterone,
dihydrotestosterone levels
5. Sodium, and potassium levels
6. Androstenedione levels are measured to diagnose 17-ketosteroid
reductase deficiency.
7. LH and follicle-stimulating hormone (FSH). A diagnosis of
gonadotropin deficiency is suspected if these values are low.
P.N 23
24. 7. hCG stimulation test.
a. hCG is administered to stimulate gonadal steroid
production when testosterone values are low (as in
gonadotropin deficiency or a defect in testosterone
synthesis).
b. A rise in the testosterone level confirms the presence of
Leydig cells and, by implication, testicular tissue.
c. In patients with 5α-reductase deficiency, the basal T-to-
DHT ratio may be normal but elevated after hCG
stimulation.
8. Assessment of pituitary function: thyroid function tests, growth
hormone levels, ACTH stimulation test, and imaging studies of
the pituitary gland
P.N 24
25. Radiographic studies
1. Ultrasonography to evaluate:
1. adrenal hyperplasia
2. uterus
3. presence and localization of gonads
• Contrast studies to outline the internal anatomy (sinography,
urethrography, vesicocystoureterography, and intravenous
urography) may be indicated in complex cases and before
reconstructive surgery.
• Magnetic resonance imaging (MRI): sensitivity may only be
marginally improved over ultrasound.
P.N 25
26. MANAGEMENT
GENERAL
1. multidisciplinary team
2. protect the privacy of child and parents
3. treatment of psychosocial aspects
4. gender should be assigned and a team of specialists
5. Circumcision should be delayed in any infant with a
DSD
P.N 26
27. Medical management in the neonatal period
and early infancy
1. Congenital adrenal hyperplasia.
a. Glucocorticoid therapy:
i. Hydrocortisone 10 to 20 mg/m2/d as3 divided doses
ii. Adjustments for growth and during periods of stress
iii. Alternatively, IM cortisone acetate in children <6 months
as oral hydrocortisone may be absorbed erratically in
these infants.
b. Mineralocorticoid therapy.
i. Fludrocortisone acetate 0.05–0.1 mg daily orally
ii. Dose does not change with increase of body size or during
stress.
iii. Some endocrinologists also recommend sodium
supplementation (1–5 mEq/kg/d).
P.N 27
28. 2. Incompletely virilized genetic male:
b. Treatment with depo-testosterone might be
considered by the team of specialists depending on
the results of the diagnostic evaluation.
3. For patients with DSD who have Y-chromosome
material and intraabdominal gonads, gonadectomy is
generally recommended because of the risk of gonadal
tumors, many of which are malignant.
P.N 28
29. surgical treatment
1. In the past it was thought that surgical treatment of ambiguous
genitalia to create a female appearance, particularly when a
vagina is present, was more successful than construction of male
genitalia.
2. controversy exists regarding the timing of the performance of
invasive and definitive procedures, such as surgery.
3. an expert multidisciplinary team should consider deferring
elective surgical repairs and gonadectomies until the child can
participate in the informed consent for the procedure
P.N 29
30. Prognosis, gender assignment, long-term care.
1. It is now believed that prenatal and early exposure of the brain
to androgens, if present, influences gender-specific behavioral
patterns and sexual identity in addition to the external
appearance of the genitalia or their future function
2. Children with gender dysphoria, homosexuality and bisexuality
are the most frequent diagnoses.
3. The pediatrician, pediatric endocrinologist, and psychologist,
along with the appropriate additional specialists, should provide
ongoing compassionate, supportive care to the patient and the
patient’s family throughout childhood, adolescence, and
adulthood
P.N 30