This document discusses genetic principles in paediatric surgery. It defines genetic disorders, congenital anomalies, and birth defects. It then classifies genetic disorders and describes different types of congenital malformations such as deformation, disruption, dysplasia, and more. The document also discusses specific genetic conditions commonly encountered in paediatric surgical wards and their associated genetic syndromes. It emphasizes the importance of a collaborative assessment and available diagnostic tools for evaluating children with birth defects. Prevention and treatment options are also outlined.
Hirschsprung Disease - Approach & ManagementVikas V
Hirschsprung Disease. - A developmental Disorder of Intrinsic Component of Enteric Nervous System.
Also known Congenital Megacolon.
This Presentation deals with The eitology, presentation, diagnosis, medical and surgical management & complications of the same.
Hirschsprung Disease - Approach & ManagementVikas V
Hirschsprung Disease. - A developmental Disorder of Intrinsic Component of Enteric Nervous System.
Also known Congenital Megacolon.
This Presentation deals with The eitology, presentation, diagnosis, medical and surgical management & complications of the same.
Hirchsprung’s disease by Dr Afuye Olubunmi OlusolaAlade Olubunmi
In Hirchsprung's disease, Absence of ganglion cells in the myenteric and submucosal plexus
Upstream bowel becomes dilated secondary to functional obstruction.
GEMC - Gastrointestinal Bleeding in the Pediatric PatientOpen.Michigan
This is a lecture from the Ghana Emergency Medicine Collaborative (GEMC). To download the editable version (in PPT), to access additional learning modules, or to learn more about the project, see http://openmi.ch/em-gemc. Unless otherwise noted, this material is made available under the terms of the Creative Commons Attribution Share Alike-3.0 License: http://creativecommons.org/licenses/by-sa/3.0/.
DEVELOPMENTAL DISTURBANCES OF JAWS & DENTAL ARCH / oral surgery courses Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
Hirchsprung’s disease by Dr Afuye Olubunmi OlusolaAlade Olubunmi
In Hirchsprung's disease, Absence of ganglion cells in the myenteric and submucosal plexus
Upstream bowel becomes dilated secondary to functional obstruction.
GEMC - Gastrointestinal Bleeding in the Pediatric PatientOpen.Michigan
This is a lecture from the Ghana Emergency Medicine Collaborative (GEMC). To download the editable version (in PPT), to access additional learning modules, or to learn more about the project, see http://openmi.ch/em-gemc. Unless otherwise noted, this material is made available under the terms of the Creative Commons Attribution Share Alike-3.0 License: http://creativecommons.org/licenses/by-sa/3.0/.
DEVELOPMENTAL DISTURBANCES OF JAWS & DENTAL ARCH / oral surgery courses Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
Agile Transition of a big medical software product developmentAndrea Heck
The presentation held at OOP 2012 in Munich explains the agile transition we did at a big medical software product development organization within Siemens Healthcare.
SPORTS INJURY
#aclsurgeryjaipur #aclsurgeryhindia #aclsurgerytaekwondo
Acl reconstruction in jaipur | Acl reconstruction in taekwondo | Acl injury in football player surgery | Acl reconstruction surgery in football | acl surgery | Acl surgery ke baad physiotherapy | Acl surgery in jaipur | acl surgery recovery | Best acl surgeon in jaipur | Best ligament doctor in hindi | Best acl surgeon in india | Meniscus repair surgery in jaipur | Sports injury doctor | Acl injury in football players | Acl injury in taekwondo | acl tear | Best knee surgeon in jaipur
#allinsideacl #internalbrace #drrajatjangir #bestaclsurgeon #aclexpert #bestkneesurgeon
To Know more about ACL Injury, Click the links below:
1. ACL surgery 7 different Techniques we do at our center - "Not single technique best for all"
https://youtu.be/oWkIr8IXvr8
2. Everything about ACL Injury tear surgery in Hindi I
https://youtu.be/bqpjkAkwZ14
3. Best Screw for ACL tear surgery in Hindi
https://youtu.be/1LGpU1NHiIs
4. ACL Injury Tear Surgery Recovery : All your questions & queries solved by Dr.Rajat Jangir
https://youtu.be/SIAPWiMbOqs
5. Partial ACL Tear Surgery or not ! ACL आधा टूटा हो तो क्या करें ?
https://youtu.be/NEJRPKskJTI
6. 5 Symptoms of ACL Injury tear इंजरी के पांच लक्षण ?
https://youtu.be/EXpgy19Jxzw
7. PRP injection therapy in Partial ACL TEARs
https://youtu.be/qyG1EYgS87E
Dr.RAJAT JANGIR(Asso Prof.)
Senior Consultant Arthroscopy and Joint Replacement
(Specialist in Shoulder Knee Hip Surgery)
Ligament and Joints Clinic
67/34 Mansarovar Jaipur
Whatsapp: shorturl.at/gnAEP
Appointment: +91 8104855900
Email: ligamentsurgeon@gmail.com
Google Page: https://g.page/KNEE-Shoulder-SURGERY?...
Facebook: https://www.facebook.com/Ligamentandj...
* Vast experience and specialisation in the field of Arthroscopy and sports surgery.
* M.S. orthopaedics from BJ Medical College, Civil hospital, Ahmedabad
* Fellowship in Arthroscopy and Sports injury with Prof Joon Ho Wang at Samsung Medical Center, South Korea
* Diploma in Sports Medicine from InternationaI Olympic Committee
* Invited as Athlete Medical Doctor at Rio Olympic 2016
* Done Rajasthan's first "All Inside Physeal Preserving ACL reconstruction" in 13 year old Athlete
Dr.Rajat is rated as one of the best orthopedic surgeon with with excellence in Knee Shoulder Arthroscopy surgeries as replacements'
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
Craniofacial syndromes /certified fixed orthodontic courses by Indian dental ...Indian dental academy
Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
This is talking about "What is Congenital Disease?", "What Factors those Can Cause Congenital Disease?", and "What are the Classifications of Congenital Disease?"
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
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
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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.
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/
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.
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
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
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
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.
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.
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.
3. Definition of Genetic Disorder
Congenital Anomaly & Birth
Defect
A Genetic Disorder is an illness
caused by abnormalities in genes or
chromosomes, especially a condition
that is present from before birth.
A Congenital Anomaly is a physical
abnormality present at birth.
Birth defects can be defined as
structural or functional abnormalities,
including metabolic disorders, which
are present from birth
4. Note:
A genetic disorder may or may
not result into a congenital
anomaly
A congenital anomaly may or
may not be caused by a genetic
disorder
A congenital anomaly is a
structural abnormality
A birth defect can be structural
5. Studies have shown that:
1 to 3% of newborns have a major congenital
anomaly that will affect their quality of life.
In 1988 Centres for Disease Control (CDC,
USA) reported that birth defects were the
leading cause of infant mortality, primary
cause of infant deaths in 8160 children and
contributing cause in 1000 more.
50% of all paediatric patients admitted in the
hospital had a disorder with some genetic
component.
6. Classification of Genetic Disorders
Multifactorial + environment
Single gene
(Mendelian) Male
Chromosomal
Mitochondrial
Somatic mutations (cancer)
7. Genetic Disorders
Multifactorial (common)
- “Environmental” influences act on a genetic predisposition to
produce a liability to a disease.
- One organ system affected.
- Person affected if liability above a threshold.
Single gene (1% liveborn)
- Dominant/recessive pedigree patterns (Mendelian inheritance).
- Can affect structural proteins, enzymes, receptors, transcription
factors.
Chromosomal (0.6% liveborn)
- Thousands of genes may be involved.
- Multiple organ systems affected at multiple stages in gestation.
- Usually de novo (trisomies, deletions, duplications) but can be
inherited (translocations).
8. Dominant
Heterozygotes with one copy of the altered gene
are affected
Recessive
Homozygotes with two copies of the altered gene are
affected
X-linked recessive
Males with one copy of the altered gene on the
X-chromosome are affected
Male
9. Congenital Malformations
Causes
Genetic/chromosomal
Environmental
Incidence
2-3% of newborn (4-6% by age 5)
In 40-60% of all birth defects cause is
unknown
Genetic/chromosomal
10%-15%
Environmental
10%
Multifactorial (genetic & environmental)
20%-25%
10. Categories of Birth Defects
Birth Defects can be placed
in one of the following
established categories:
11. Categories of Birth Defects:
Deformation
Disruption
Dysplasia
Malformation
Association
Field Defect
Sequence
12. Deformation
Have no inherent genetic
basis
Mechanical forces have
altered the shape of the
structure affected
Example: Talipes equinovarus
or Clubfoot
13. Club Foot
Lower limbs were
genetically
programmed to form
normally
External forces (e.g.
decreased amount
of amniotic fluid) or
Internal forces (e.g.
neurological
impairment)
prevented such
development
14. Disruption
The genetic programme of the
structure was normal like in
Deformation
Developmental process was
interrupted by some mechanism,
causing the anomaly
Example: Anomalies in newborn
exposed to cocaine in utero
15. Cocaine
(Vasoconstrictive agent)
Temporarily restrictied blood suply to the developing
structures
Malformations
Craniofacial anomalies,
Intestinal Atresia
etc.
16. Dysplasia
A generalized
abnormality at the level
of cellular
organization in a
specific tissue.
Example: Connective
tissue disorder e.g.
Marfan’s syndrome in
which Fibrillin, a
component of
connective tissue is
absent because of
genetic mutation
17. Malformation
A malformation is an anomaly in which the
developmental process was abnormal
from the outset
Caused by:
• Genetic Mutation
• Congenital infection
• Teratogen Exposure
Example: Cleft lip & Palate
18. Cleft Lip and Palate
Structures
that join the
lip and palate
fail to fuse
normally
19. Syndrome
A child will have multiple
malformations
The observed malformations are
pathologically related to a single
cause.
Example: - Down Syndrome
- Turner’s Syndrome
- Klinefelter’s Syndrome
23. Association
An association is a nonrandom
occurrence of a set of malformations that
are not pathologically related
The malformations in Association occur
more commonly together than separately
But not caused by the same genetic or
teratogenic insult
Example: VACTERL Association
CHARGE Association
24. VACTERL Association
Features
V - Vertebral anomalies
A - Anal atresia/
Imperforate Anus
C - Cardiovascular
anomalies
T - Tracheoesophageal
fistula
E - Esophageal atresia
Newborn with radial atresia of the
R - Renal (Kidney) right arm, is displaying a limb
and/or radial anomalies anomaly included in VACTERL
Association
L - Limb defects
25. CHARGE Association
Colobomas Retarded growth
Heart defects Genital anomolies
Atresia of the Ear anomalies
choanae
(A) Twin aged 2 months. (B) Twin aged 2 years showing mildly
dysmorphic features with laterally extended eyebrows with medial flare. (C)
A typical CHARGE ear, low set, short, wide, protruding, simplified, and
featureless. The ears were also asymmetric.
26. Field Defect
A field defect is a set of
malformations that are grouped in a
localized area of body or a so called
developmental field
An abnormal developmental stimuli
e.g. a teratogen or mutated gene
result in a developmental field defect
Example: Cloacal Extrophy
27. Cloacal Extrophy
Includes:
Lower abdominal wall
defect
Bladder extrophy
Sacral vertebral
defects
Urogenital anomaly
Caused by abnormal
migration of neural
crest cells in the
caudal area in 4th
week of gestation
28. Sequence
A series of findings that
are derived from a single
anomaly or mechanical
force
Example : Pierre – Robin
Sequence which results in
Pierre- Robin’s Syndrome
29. Pierre – Robin Syndrome
Includes :
Small Jaw
A midline, U shaped
cleft palate
A relatively large
and protruding
tongue
30. Pierre – Robin Sequence
Small
• Primary anomaly
Jaw
Displaceme • Protruding tongue due to
nt of
tongue in
inadequate room
superior
direction
• Development of Pierre –
Cleft
Robin Syndrome from
Palate constellation of the three
38. 7. Pyloric Stenosis:
Apert Syndrome
Cornelia de Lange
Syndrome
Fetal Hydantoin Effects
Fetal Trimethadione effects
Trisomy 18, 21
39. 8. Tracheoesophagial
Fistula:
CHARGE association
DiGeorge Syndrome
Opitz Syndrome
VACTERL association
Trisomy 18, 21
40. Assessment of the child with a
congenital anomaly
A collaborative effort among many
physicians including a clinical
geneticist is required
Seemingly unrelated problems has to
be unified under one diagnostic
heading
In planning appropriate therapy, a
surgeon needs to know the prognosis
of certain genetic disorders
41. The initial assessment needs to address certain key
points:
1. Are other organ systems involved? And if
so, what are the associated anomalies?
2. What are the child’s growth parameters,
including height, weight and head
circumference?
3. Is the child neurologically intact or is there
evidence of developmental delay or mental
retardation?
4. Are there abnormal features present e.g.
42. Availavble Tools for the Diagnosis
of a Child with Birth Defects
Clinical Evaluation:
Associated anomalies
Neurologic examinations
Dysmorphology (Study of abnormal forms)
evaluation
Dermatoglyphics (Fingerprint pattern)
Pedigree Analysis
Literature Search
Specialized Laboratory Tests:
Radiography, USG, MRI
Chromosome analysis
Molecular tests
43. Prevention and Treatment
Options
Birth Defects can be prevented by:
Pre-conceptional care & Increasing Folic Acid Intake
Limiting Exposure to Teratogens and Mutagens:
Alcohol & Certain drugs
Radiation
Tobacco
Cigarette
Infection screening during pregnancy
Genetic Testing During Pregnancy
Amniocentesis
Chorionic villus sampling
Genetic Counselling of the parents
44. Treatment options for a child with Genetic
Birth Defect:
Mostly surgical correction of the defect:
Early surgery on the fetus in utero
Surgical correction after birth
Other treatments:
Medical treatment of the associated
problems
Palliative care (e.g. in case of
Anencephaly)
Termination of pregnancy in case of
severe birth defects
45. Conclusion
Of course, many birth defects cannot
be prevented; this is especially true of
defects that have a genetic
component. Thankfully, screening
and treatment methods can be
implemented to avoid the
complications of birth defects and
increase an affected child's
possibilities of a better quality of life.