Genetic counselling provides information and advice about genetic conditions to help couples understand risks and make decisions. It aims to reduce births of genetically defective babies by educating about hereditary patterns, tests, and management options. Genetic counsellors assess family histories, explain diagnoses and recurrence risks, support decisions, and refer individuals to specialists. Nurses help obtain histories, provide psychological support, educate about conditions, and coordinate care during the counselling process.
OBSTETRICS & GYNAECOLOGICAL NURSING
GENETIC COUNSELLING DURING PREGNANC
INTRODUCTION-
COUNSELLING-Counselling is consultation, mutual interchange of opinions, deliberating together.A process in which the counsellor assist the counselee .
Provides concrete, accurate information about inherited disorders.
Provides information about prognosis and follow up.
Discuss ways in which disease can be prevented.
Postpartum psychosis is a severe mental illness which develops acutely in the early postnatal period. It is a psychiatric emergency. Identifying women at risk allows development of care plans to allow early detection and treatment. Management requires specialist care. Health professionals must take into account the needs of the family and new baby, as well as the risks of medication whilst breast-feeding.
An intensive material on recent advances on contraception including the current contraceptive methods and a brief overview on immunocontraception and contraceptive vaccines
Puerperium is the period following childbirth during which the body tissues, specially the pelvic organs revert back approximately to the pre-pregnant state both anatomically and physiologically. puerperium begins as soon as the placenta is expelled and lasts for approximately 6 weeks when the uterus becomes regressed almost to the non-pregnant size.
OBSTETRICS & GYNAECOLOGICAL NURSING
GENETIC COUNSELLING DURING PREGNANC
INTRODUCTION-
COUNSELLING-Counselling is consultation, mutual interchange of opinions, deliberating together.A process in which the counsellor assist the counselee .
Provides concrete, accurate information about inherited disorders.
Provides information about prognosis and follow up.
Discuss ways in which disease can be prevented.
Postpartum psychosis is a severe mental illness which develops acutely in the early postnatal period. It is a psychiatric emergency. Identifying women at risk allows development of care plans to allow early detection and treatment. Management requires specialist care. Health professionals must take into account the needs of the family and new baby, as well as the risks of medication whilst breast-feeding.
An intensive material on recent advances on contraception including the current contraceptive methods and a brief overview on immunocontraception and contraceptive vaccines
Puerperium is the period following childbirth during which the body tissues, specially the pelvic organs revert back approximately to the pre-pregnant state both anatomically and physiologically. puerperium begins as soon as the placenta is expelled and lasts for approximately 6 weeks when the uterus becomes regressed almost to the non-pregnant size.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
genetic testing for mothers and childrenpooja kajla
Genetics is the branch of science that deals with the study of heredity
Term ‘Gene’ was coined in by Johannsen in 1909
Mr. Johann Gregor Mendel(1822-1884) is “Father of Genetics”
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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
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.
- 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
Prix Galien International 2024 Forum ProgramLevi 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
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
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.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
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Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
2. GENETICS
• The branch of biology that deals with heredity, especially the
mechanisms of hereditary transmission and the variation of inherited
characteristics among similar or related organisms
4. INTRODUCTION
• Genetic counselling is a service that provide information and
advise about genetic condition. These are condition caused by
changes known as mutation in certain genes and are usually
passed down through a family.
• Genetic counselling is the screening procedure designed to
identify the individual having a greater risk of producing an
offspring with genetic abnormalities.
5. • Identification of the cases at risk is done from analysis of family
and reproductive history, as well as the possible effects of
environment factors.
• Birth of the congenitally malformed baby increases the chances
to 70% as compared to a normal women.
6. DEFINITIONS
• Genetic counselling is a communication process which deals
with the human problem associated with the occurrence or the
risk of occurrence of a Genetic Disorder in a family.
7. AIM
• The aim is to allow the women and her husband make an unified
decision regarding future management of pregnancy.
8. OBJECTIVES
• To provide information, assist in counselling and help the couple
to adjust to the problem and thereby decrease the incidence of
births of genetically defective babies.
9. • Every women before any prenatal genetic diagnosis, should be
counseled and informed about the procedures.
• A formal consent is to be obtained before any invasive
procedure.
• Information should include the nature, accuracy, safety and post
test recommendations.
10. INDICATIONS FOR PRENATAL GENETIC
COUNSELLING
Maternal risk factors
1. Maternal age ≥35 years: trisomy 21, 18, 13 and 47xxx increase with
age.
2. Family history of neural tube defects.
3. Previous baby born with neural tube defects.
4. Previous child with chromosomal anomaly
5. One or both parents-carriers of sex-linked or autosomal traits.
6. one parent is known to carry a balanced translocation.
11. 7. A child is born with an unbalanced translocation.
8. History of recurrent miscarriage.
Prenatal risk factors:
1. Oligohydramnios
2. Polyhydramnios
3. Severe symmetrical fetal growth restriction.
4. Abnormal ultrasound finding (structural anomalies)
12. 5. Uncontrolled diabetes mellitus in the periconceptional period.
6. Contact with infection (teratogenic) e.g. rubella,
cytomegalovirus.
7. Presence of soft tissue markers of chromosomal anomaly on
ultrasonography.
8. Abnormal maternal serum screening.
13. BENEFICIARIES OF GENETIC
COUNSELLING
• People who have birth defects and genetic condition.
• Parents who have had a child with defects/genetic condition.
• Parents who have a child with developmental delay, mental retardation
and other problems with growth and developments.
• People concerned have may have inherited a tendency to develop
cancer.
• Couples are blood relatives.
15. PROSPECTIVE GENETIC COUNSELLING
• This allows for the true prevention of disease.
• This approach requires identifying heterozygous individuals for any
particular defect by screening.
• Explaining to them the risk of their having affected children if they
marry another heterozygote for the same gene.
• If heterozygous marriage can be prevented or reduced, the prospects of
giving birth to affected children will diminish. EX: sickle cell anemia
thalassemia
16. RETROSPECTIVE GENETIC COUNSELLING
• Most genetic counseling at present is retrospective, i.e., The hereditary
disorder has already occurred within the family .
• The methods which could be suggested under retrospective genetic
counseling are:
1. Contraception
2. Pregnancy termination
3. Sterilization
17. PHASE OF COUNSELLING
1. Assessment phase:
This is primary beginning phase of counselling in which following
tasks are accomplished-
• Initial interview with counselee and family for preparation of
counselee for genetic counselling.
• Carry out primary assessment of counselee physical examination etc.
• Considering potential diagnosis based on collected information.
18. 2. Diagnosis phases:
- In some cases, the goal of genetic evaluation is to make a diagnosis of
particular genetic condition/ syndrome.
- In other cases, the diagnosis already is known, and the genetic
counselor probably will confirm the established diagnosis to proceed
for next phases of the counselling.
21. 3. Analysis phase:
This phase include followings tasks.
• Literature search and review of information
• Consultation with other experts
• Compiling of information and determination of recurrence risk
22. 4. Communication phase:
• Communication of results and risk to the counselee and to the
family if appropriate.
• Discussion of natural history of disorders. Current treatment
options and anticipatory guidance.
• Assess the counselee’s understanding about facts and relevant
hereditary pattern, diagnostic and management options for
disorder.
23. 5. Referral and support phase
• Refer the individual to genetic specialist.
• Support of decision made by counselee.
• Psychological support should be providing through out of
process.
24. PROCEDURES FOR EARLY DETECTION OF FETAL
GENETIC, CHROMOSOMALAND STRUCTURAL
ABNORMALITIES
• Maternal serum alpha feto-protein (MSAFP)
• Fetal cell isolation from maternal blood- genetic.
• From isolated fetal nucleated red blood cells or trophoblast cells.
• Cell free fetal DNA from maternal blood.
• Chorion villus biopsy
• High resolution ultrasonography for (nuchal thickening, nasal bone)
25. • Triple test (combined test): MSAFP, Unconjugated estriol (E3) and
hCG.
• Quadruple test: (MSAFP, UE3, hCG, Inhibit-A).
• Integrated test: NT, PAPP-A +hCG.
• Cordocentesis.
• Fetoscopy.
• Peri-implantation genetic diagnosis
• 3D or 4D ultrasound with increased resolution.
26. Cordocentesis (percutaneous umbilical blood sampling): it is
performed under local anesthesia usually from 18-20 weeks
gestation.
Amniocentesis: 12-14weeks.
Chorionic villus sampling: Transcervical 10-12weeks,
transabdominal 10weeks to term.
Fetoscopy: is done at 16-20weeks.
27. Ultrasonography (non-invasive): is done at 16-22weeks.
Nasal bone: done at 10-12 weeks.
Magnetic resonance imaging
Pre-implantation genetic diagnosis (PGD): is done by polar body
biopsy, blastomere biopsy, trophectoderm biopsy.
Blastomere biopsy:
28. FETAL THERAPY
• Pre-conceptional counselling is an important step in the
management so that couple has got adequate information before
hand.
• Option for the termination of pregnancy is offered if the fetus is
affected with serious genetic, chromosomal or structural
abnormality.
• This improve the perinatal mortality statistics.
29. • Intrauterine fetal transfusion for fetal anemia (alloimmune,
thalassemia) is done.
• Fetal medical therapy is done for various conditions through
maternal medication.
30. • Medicines are carried transplacentally to the fetus.
• Maternal oral therapy with propylthiouracil for fetal
hyperthyroidism, digoxin or flecainide for fetal tachyarrhymias,
oral dexamethasone for congenital adrenal hyperplasia of a
female fetus, have been found effective.
31. • Fetal stem cell transplantation and fetal gene therapy could be
used for many hematological, metabolic, immunological and
inherited diseases.
• Intrauterine fetal surgery has been attempted in few selected cases
• Common fetoscopic surgery done are: laser therapy for TTTS.
• Cystoscopic laser for posterior urethral valves, fetal tracheal
occlusion for congenital diaphragmatic hernia and release of
amniotic bands.
32. ROLE OF THE GENETIC COUNSELOR
• Educate individuals, families and communities about inheritance,
testing, management, prevention, resources and research in genetic
counseling.
• Explain family history and the chance that a condition will occur or
recur.
• Counsel an individual or family to promote informed choices and
adaptation to the risk or condition.
33. ROLE OF NURSE IN GENETIC COUNSELLING
• Receive the client and family and make them comfortable in
assessment room for genetic counselling.
• Obtain prenatal, family and other health histories from individual and
family.
• Conduct primary physical information and collect other relevant
information.
• Provide psychological support to individual and family throughout the
counselling
34. • Provide information about hereditary pattern
• Collect other information form individual and family e.g. any prior test
report and documents others.
• Encourage the individual and other family members to ask questions as
much as they can understand about all aspects of disorders.
35. • Establish a plan of care with the family and coordination care with the
family and other healthcare professionals.
• Maintain privacy and confidentiality of all the information.
• Provide referral guidance
• Follow up.