Mendelian diseases

•Download as PPT, PDF•

15 likes•17,007 views

Mendelian diseases are genetic disorders caused by mutations at individual gene loci that are passed down according to Mendelian patterns of inheritance. There are four main types of inheritance: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Examples of each type of inheritance pattern and the probability of offspring being affected are provided. Prevention and control of Mendelian diseases includes general health promotion, early diagnosis and treatment, rehabilitation, and genetic counseling.

INTRODUCTION ,[object Object],[object Object],[object Object],[object Object]

MENDELIAN DISEASES ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object]

PREVENTION AND CONTROL ,[object Object],[object Object],[object Object],[object Object]

General health promotion ,[object Object],[object Object],[object Object],[object Object]

Eugenics ,[object Object],[object Object]

Genetic counseling ,[object Object],[object Object]

EARLY DIAGONOSIS & RX ,[object Object],[object Object],[object Object],[object Object]

Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition

Down syndromeFarhan Ali

Dysmorphism

Maphiri Ramafikeng

Chromosomal Disorders

Sue Ting Lim

Sex Linked Inheritance

Juan Miguel Palero

KARYOTYPINGMusa Khan

Thalassemia

Abhishek Yadav

Genetic disorder

Saurav Pandey

Chromosomal abnormalities

antoniogalascience

Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz

ShumailaRiaz6

Genetic disorder

Chhabi Acharya

Klinefelter syndromePeter Egorov

Mechanism of inheritance (mendelian theory)

MGM SCHOOL/COLLEGE OF NURSING

Multifactorial disordersMahin Nwx

Patterns of Inheritance

Lumen Learning

Patterns of Inheritance (Genetics)

Bincy Varghese

Single gene disorders

Suniel Gill

04 mendelian genetics and humansmrtangextrahelp

Genetic inheritance and chromosomal disorders

Rakesh Verma

What's hot

Sex linked inheritance diseases

ddbalu

Patterns of inheritance

Drhunny88

Klinefelter Syndrome

Krishna Moorthy

Autosomal recessive disorders

Tejaswi Gullapelli

Down syndromeFarhan Ali

Dysmorphism

Maphiri Ramafikeng

Chromosomal Disorders

Sue Ting Lim

Sex Linked Inheritance

Juan Miguel Palero

KARYOTYPINGMusa Khan

Thalassemia

Abhishek Yadav

Genetic disorder

Saurav Pandey

Chromosomal abnormalities

antoniogalascience

Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz

ShumailaRiaz6

Genetic disorder

Chhabi Acharya

Klinefelter syndromePeter Egorov

Mechanism of inheritance (mendelian theory)

MGM SCHOOL/COLLEGE OF NURSING

Multifactorial disordersMahin Nwx

Patterns of Inheritance

Lumen Learning

Patterns of Inheritance (Genetics)

Bincy Varghese

Single gene disorders

Suniel Gill

What's hot (20)

Sex linked inheritance diseases

Patterns of inheritance

Klinefelter Syndrome

Autosomal recessive disorders

Down syndrome

Dysmorphism

Chromosomal Disorders

Sex Linked Inheritance

KARYOTYPING

Thalassemia

Genetic disorder

Chromosomal abnormalities

Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz

Genetic disorder

Klinefelter syndrome

Mechanism of inheritance (mendelian theory)

Multifactorial disorders

Patterns of Inheritance

Patterns of Inheritance (Genetics)

Single gene disorders

Viewers also liked

04 mendelian genetics and humansmrtangextrahelp

Genetic inheritance and chromosomal disorders

Rakesh Verma

15 Genetic Diseasesghalan

07 mendelian genetics and humansmrtangextrahelp

MIC150 - Chap 2 Extension Of Mendelian GeneticsAlia Najiha

COMMON GENETIC DISORDERS

Aditi Prakash

Human Inheritance & Genetic DisordersDave Jackson

Mendelian (monegenic) disorders: Hemophilia

Shaina Mavreen Villaroza

Biology unit 5 genetics non mendelian genetics notesrozeka01

Genetics and healthRaghavendra Huchchannavar

Patterns of inheritance non mendelian inheritance

Dr. Samira Fattah

Pedigree chartsDobbs Ferry High School

Complex DiseasesAdonis Sfera, MD

Patterns of inheritanceFelix Boadu

Chapter 11.1 notesValerie Evans

Bioinformatics & biostatistics tools for monogenic and multifactorial disease...

Pasteur_Tunis

Kuwait newborn screening 3

Newborn Screening KW

5 Cutting-Edge Trends in Molecular Diagnostics

Bruce Carlson

Seminar on dna based diagnosis of genetic diasease

abhishek mondal

8.2.7.p inherited diseases

taliahrichardson

Viewers also liked (20)

04 mendelian genetics and humans

Genetic inheritance and chromosomal disorders

15 Genetic Diseases

07 mendelian genetics and humans

MIC150 - Chap 2 Extension Of Mendelian Genetics

COMMON GENETIC DISORDERS

Human Inheritance & Genetic Disorders

Mendelian (monegenic) disorders: Hemophilia

Biology unit 5 genetics non mendelian genetics notes

Genetics and health

Patterns of inheritance non mendelian inheritance

Pedigree charts

Complex Diseases

Patterns of inheritance

Chapter 11.1 notes

Bioinformatics & biostatistics tools for monogenic and multifactorial disease...

Kuwait newborn screening 3

5 Cutting-Edge Trends in Molecular Diagnostics

Seminar on dna based diagnosis of genetic diasease

8.2.7.p inherited diseases

Similar to Mendelian diseases

Basim Zwain Lectures- Inheritance

Basim Zwain

geneticsppt-150127002045-conversion-gate01.ppt

Jeffrey Alemania

Etiology and pathogenesis of heredity and congenital diseases presentation

Muhammad Faisal Mukhtar

Modes of autosomal and sex linked inheritance

Dr Laxman Khanal

down syndrome and klinefelters syndrome

madhursejwal

Mutations

asha sc

Modes of inheritance

Ramachandran Thiruvengadam

Modes of inheritance

MWIZERWA JEAN-LUC

58 ch13beyondmendel2008sbarkanic

3- human 3 genetics without genetic counseling.ppt

DrJoharAljohar

HemophiliaMyzak

14.1 -- BIO

heyylo

Errors of meiosis

Muhammad waqas

Gene Defectsdreyngerous

PPT-GENETICS.pptx

JesterFelizarta

Genetics and Internal Medicine (1)

Ahmed Elshebiny

Genetics and internal medicine (1)

Linked inheritance

Hereditary diseases

Sims genetics

Similar to Mendelian diseases (20)

Basim Zwain Lectures- Inheritance

geneticsppt-150127002045-conversion-gate01.ppt

Etiology and pathogenesis of heredity and congenital diseases presentation

Modes of autosomal and sex linked inheritance

down syndrome and klinefelters syndrome

Mutations

Modes of inheritance

58 ch13beyondmendel2008

3- human 3 genetics without genetic counseling.ppt

Hemophilia

14.1 -- BIO

Errors of meiosis

Gene Defects

PPT-GENETICS.pptx

Genetics and Internal Medicine (1)

Genetics and internal medicine (1)

Linked inheritance

Hereditary diseases

Sims genetics

Recently uploaded

Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad

NephroTube - Dr.Gawad

- 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

TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...

kevinkariuki227

Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya

Dr KHALID B.M

ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx

Swetaba Besh

Couples presenting to the infertility clinic- Do they really have infertility...

Sujoy Dasgupta

24 Upakrama.pptx class ppt useful in all

DrSathishMS1

Pharynx and Clinical Correlations BY Dr.Rabia Inam Gandapore.pptx

Dr. Rabia Inam Gandapore

POST OPERATIVE OLIGURIA and its management

touseefaziz1

HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...

GL Anaacs

Contact us if you are interested: Email / Skype : kefaya1771@gmail.com Threema: PXHY5PDH New BATCH Ku !!! MUCH IN DEMAND FAST SALE EVERY BATCH HAPPY GOOD EFFECT BIG BATCH ! Contact me on Threema or skype to start big business!! Hot-sale products: NEW HOT EUTYLONE WHITE CRYSTAL!! 5cl-adba precursor (semi finished ) 5cl-adba raw materials ADBB precursor (semi finished ) ADBB raw materials APVP powder 5fadb/4f-adb Jwh018 / Jwh210 Eutylone crystal Protonitazene (hydrochloride) CAS: 119276-01-6 Flubrotizolam CAS: 57801-95-3 Metonitazene CAS: 14680-51-4 Payment terms: Western Union,MoneyGram,Bitcoin or USDT. Deliver Time: Usually 7-15days Shipping method: FedEx, TNT, DHL,UPS etc.Our deliveries are 100% safe, fast, reliable and discreet. Samples will be sent for your evaluation!If you are interested in, please contact me, let's talk details. We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.

BENIGN PROSTATIC HYPERPLASIA.BPH. BPHpdf

DR SETH JOTHAM

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

Are There Any Natural Remedies To Treat Syphilis.pdf

Little Cross Family Clinic

Alcohol_Dr. Jeenal Mistry MD Pharmacology.pdf

Dr Jeenal Mistry

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.

Prix Galien International 2024 Forum Program

Levi 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

Non-respiratory Functions of the Lungs.pdf

MedicoseAcademics

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

BRACHYTHERAPY OVERVIEW AND APPLICATORS

Krishan Murari

For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls

Savita Shen $i11

Physiology of Special Chemical Sensation of Taste

MedicoseAcademics

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

Ophthalmology Clinical Tests for OSCE exam

KafrELShiekh University

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

KDIGO 2024 guidelines for diabetologists

د.محمود نجيب

Recently uploaded (20)

Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad

TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...

Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya

ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx

Couples presenting to the infertility clinic- Do they really have infertility...

24 Upakrama.pptx class ppt useful in all

Pharynx and Clinical Correlations BY Dr.Rabia Inam Gandapore.pptx

POST OPERATIVE OLIGURIA and its management

HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...

BENIGN PROSTATIC HYPERPLASIA.BPH. BPHpdf

Are There Any Natural Remedies To Treat Syphilis.pdf

Alcohol_Dr. Jeenal Mistry MD Pharmacology.pdf

Prix Galien International 2024 Forum Program

Non-respiratory Functions of the Lungs.pdf

BRACHYTHERAPY OVERVIEW AND APPLICATORS

For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls

Physiology of Special Chemical Sensation of Taste

Ophthalmology Clinical Tests for OSCE exam

New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...

KDIGO 2024 guidelines for diabetologists