Consanguineous marriages can increase susceptibility to infectious diseases like tuberculosis and hepatitis B. A study found strong associations between consanguinity and susceptibility to TB and hepatitis B in West African populations with high rates of cousin marriages. However, there was no significant association found for hepatitis B in Italians, who have low cousin marriage rates, or for leprosy in Indians. The level of inbreeding appears to influence susceptibility, as first-cousin marriages were necessary to account for observed susceptibility levels in Gambia. Managing consanguinity risks requires social awareness programs, population genetic screening, youth counseling, and warning those at high risk.
Consanguineous marriage makes congenital heart diseases more complexRamachandra Barik
Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross-section looks whether consanguineous marriage (CM) makes CHDs more complex.
Subjects and Methods: This was an observational study which looked at the cross-section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X-ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics.
Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02).
Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM.
Consanguineous marriage makes congenital heart diseases more complexRamachandra Barik
Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross-section looks whether consanguineous marriage (CM) makes CHDs more complex.
Subjects and Methods: This was an observational study which looked at the cross-section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X-ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics.
Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02).
Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM.
The Potential Impact of Preimplantation Genetic Diagnosis on Discrimination o...blaine_5
The argument that selection against specific genetic traits will lead to increased discrimination is both compelling and troubling. Indeed, it is reasonable to conclude that if a large number of people use PGD to select against traits they consider to be disabilities then the probability of increased discrimination and marginalization would be greatly increased. However, as this Note argues, most participants in the PGD disability debate overlook important limitations of both trait selection and large-scale PGD adoption that will likely mitigate the negative potentially negative impact of PGD technology.
Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unravelling of the entire draft sequence of the human genome. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders as treatment in most cases is difficult or impossible and where available beyond the means of most families. Genetic technology is advancing rapidly, bringing new, safer and more sensitive ways to diagnose genetic conditions pre- and postnatally. These advances will bring about profound changes in the way we deliver obstetric services to women and their families. Diagnosing a genetic disorder not only allows for disease-specific management options but also has implications for the affected individual's entire family. Hence, a working understanding of the underlying concepts of genetic disease is important for all practicing clinicians. Although it is impossible to know all aspects of clinical and molecular genetics, basic knowledge of certain topics is a must for all practicing obstetrician/gynecologists.
https://userupload.net/06gt5zcwvh90
Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources
Counseling to promote informed choices and adaptation to the risk or condition.
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.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
The Potential Impact of Preimplantation Genetic Diagnosis on Discrimination o...blaine_5
The argument that selection against specific genetic traits will lead to increased discrimination is both compelling and troubling. Indeed, it is reasonable to conclude that if a large number of people use PGD to select against traits they consider to be disabilities then the probability of increased discrimination and marginalization would be greatly increased. However, as this Note argues, most participants in the PGD disability debate overlook important limitations of both trait selection and large-scale PGD adoption that will likely mitigate the negative potentially negative impact of PGD technology.
Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unravelling of the entire draft sequence of the human genome. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders as treatment in most cases is difficult or impossible and where available beyond the means of most families. Genetic technology is advancing rapidly, bringing new, safer and more sensitive ways to diagnose genetic conditions pre- and postnatally. These advances will bring about profound changes in the way we deliver obstetric services to women and their families. Diagnosing a genetic disorder not only allows for disease-specific management options but also has implications for the affected individual's entire family. Hence, a working understanding of the underlying concepts of genetic disease is important for all practicing clinicians. Although it is impossible to know all aspects of clinical and molecular genetics, basic knowledge of certain topics is a must for all practicing obstetrician/gynecologists.
https://userupload.net/06gt5zcwvh90
Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources
Counseling to promote informed choices and adaptation to the risk or condition.
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.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
Genetic factors in pathogen colonisation is emerging as a new field of research as " infectogenomics". The susceptible host to periodontal disease directs towards genetic factors playing a role in periodontal disease pathogenesis. Earlier identification of gene polymorphisms associated with periodontal disease preogression may help in early diagnosis, treatment of such susceptible host.
Twin studies seminar1 /certified fixed orthodontic courses by Indian dent...Indian dental academy
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Genetics and periodontal disease
Patients with periodontitis show inflammatory destruction of the supporting tissues around the teeth. Loss of connective tissue and collagen in the gingiva is characteristic, along with loss of periodontal ligament and resorption of alveolar bone. Thus the tooth roots become exposed to the oral environment, and the root and root cementum are colonized with a bacterial biofilm, which can calcify to form dental calculus. The chronicity and mostly slow progression of this disease results in tooth mobility, loss of chewing function, esthetic disturbances and, ultimately, if left untreated, tooth exfoliation. Moreover, periodontal inflammation has systemic effects; it can induce low grade systemic inflammation, which has negative effects on other organs.
Periodontitis is a complex chronic inflammatory disease with nonlinear progression that is caused by various factors each playing a role simultaneously and interacting with each other. The various factors determine the immune fitness of a subject. The host exists in a symbiotic relationship with the oral microbiome to maintain homeostasis. Loss of homeostasis results from loss of the host balance and an aberrant host response. This aberrant host response can manifest as a hyper‐ or hyporesponsiveness and/or lack of sufficient resolution of inflammatory reactions. The consequent chronic inflammation elicits changes in the ecology of the subgingival environment providing favorable conditions for the overgrowth of pathobionts that further propagate periodontal inflammation. The factors that determine immune fitness include: (a) genetic factors and epigenetic factors; (b) lifestyle factors; (c) comorbidities; (d) local or dental factors and factors that act randomly; and (e) pathobionts in a dysbiotic subgingival biofilm. Variants in at least 65 genes to date have been suggested as being associated with periodontitis based on genome‐wide association studies and candidate gene case control studies. Interestingly, reports have found pleiotropy between periodontitis and cardiovascular diseases. To date, 4 genetic loci are shared between coronary artery disease and periodontitis. The shared genes suggest that periodontitis is not causally related to atherosclerotic diseases, but rather both conditions are sequelae of similar (the same?) aberrant inflammatory pathways. In addition to variations in genomic sequences, epigenetic modifications of DNA can affect the genetic blueprint of the host responses.
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
Factors Influencing Gender Disparities in the Prevalence of HIV AIDS in Fako ...ijtsrd
There is a prevalence of HIV AIDS in the society among men and women and there is gender disparity in the prevalence of HIV AIDS. Biological and other factors are pointing to the fact that the women are more vulnerable and therefore have more possibilities of spreading it. This study was done in Fako Division in the South West Region of Cameroon. The general objective of this study was to investigate the factors leading to the gender disparity in the prevalence of HIV AIDS. The research is a descriptive survey. The target population was the HIV AIDS patients that are treated in the Limbe and Buea Regional Hospitals. These hospitals were purposively selected with a purposive sampling of 50 males and female. This research involves the use of both primary and secondary data with the use of questionnaires, check list and review of secondary data on problems leading to a gender difference in the prevalence of HIV AIDS in these areas. Analysis of data was done with the use of windows SPSS. Findings of the study show that there is a high gender difference of about 39.21 in Buea Regional Hospital and a gender difference of 24.4 in Limbe Regional Hospital. Some factors were found responsible for this disparity that include early start of sexual activities for females, low level of education, multiple sexual partners, unemployment for females and others. Recommendations have been made to the government, the women themselves, health professionals, NGOs and other significant stakeholders. Bisong Prisca Mboh "Factors Influencing Gender Disparities in the Prevalence of HIV/AIDS in Fako Division Cameroon: Case Study of Limbe and Buea Regional Hospitals" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-3 | Issue-6 , October 2019, URL: https://www.ijtsrd.com/papers/ijtsrd29236.pdf Paper URL: https://www.ijtsrd.com/medicine/other/29236/factors-influencing-gender-disparities-in-the-prevalence-of-hivaids-in-fako-division-cameroon-case-study-of-limbe-and-buea-regional-hospitals/bisong-prisca-mboh
Analyze, compare, and contrast the authors hypotheses, methods, and.docxlisandrai1k
Analyze, compare, and contrast the authors' hypotheses, methods, and findings in 2 nursing articles written within the last 2 years on why adolescent sex rates and STD rates are high in 2-3 pages. THis is the first part i did.
Why does teen pregnancy and sexually transmitted diseases remain high in the U.S.
What can healthcare providers do that decrease the rate of teen pregnancy and STD’s in the US?
Adolescent Sex
Teen pregnancy and sexually transmitted diseases continue to be an important healthcare issue in the 20
th
century.
Although teen pregnancy rates have dropped there are still concerns and healthcare problems that are associated with teen pregnancy. Often times they are afraid to discuss sex with their parents and deny will deny being sexually active at all.
There are problems that manifest with
adolescent pregnancy for the mother and often times the infants as well.
The high school drop out rate among pregnant high school students is approximated at about
70 percent and is cited as the number reason teens drop out prior to graduation.
There is also an estimated $7 billion revenue cost associated with teen pregnancy in the United States alone. The risk of young people engaging in early sexual intercourse is largely due to the lack of sexual education, peer pressure and social influences.
Chlamydial infection, gonorrhea, HIV/AIDS, primary and secondary syphilis, and hepatitis B virus infection are amid the highest reported STDs with chlamydia noted as the most dominate which is likely due to the fact that there is more vigorous testing.
Some of the other noted STDs are genital herpes, trichomoniasis, Chancroid, and HPV.
Often times and without any signs or symptoms present more than one pathogen is involved with sexually transmitted diseases. Typically the only environments in which there remain viable pathogens is the bodily fluids from the genitourinary tract requiring there to be intimate contact for them to be acquired.
Although it affects men and women chlamydia is predominately seen in young women and is the most common nationally known sexually transmitted disease in the U.S.
Bodily fluids from the genitourinary tract are typically the environments in which there remain viable pathogens, so intimate contact is generally required to obtain STDs.
Chlamydia infections are asymptomatic in most women and can be transmitted during childbirth with the
potential of a newborn developing pneumonia as a complication.
If it is not treated
chlamydia can spread to the uterus and fallopian tube creating further health problems and permanent damage to the reproductive system.
Teaching abstinence is the most affective way to prevent pregnancy and STDs but sexuality and curiosity of sex begins at a young age and exploration into sexuality is a natural part of personal development.
The role and responsibility as healthcare providers
is to provide adolescents and teens with the information and risk factors involved with .
Transcript: Selling digital books in 2024: Insights from industry leaders - T...BookNet Canada
The publishing industry has been selling digital audiobooks and ebooks for over a decade and has found its groove. What’s changed? What has stayed the same? Where do we go from here? Join a group of leading sales peers from across the industry for a conversation about the lessons learned since the popularization of digital books, best practices, digital book supply chain management, and more.
Link to video recording: https://bnctechforum.ca/sessions/selling-digital-books-in-2024-insights-from-industry-leaders/
Presented by BookNet Canada on May 28, 2024, with support from the Department of Canadian Heritage.
SAP Sapphire 2024 - ASUG301 building better apps with SAP Fiori.pdfPeter Spielvogel
Building better applications for business users with SAP Fiori.
• What is SAP Fiori and why it matters to you
• How a better user experience drives measurable business benefits
• How to get started with SAP Fiori today
• How SAP Fiori elements accelerates application development
• How SAP Build Code includes SAP Fiori tools and other generative artificial intelligence capabilities
• How SAP Fiori paves the way for using AI in SAP apps
Le nuove frontiere dell'AI nell'RPA con UiPath Autopilot™UiPathCommunity
In questo evento online gratuito, organizzato dalla Community Italiana di UiPath, potrai esplorare le nuove funzionalità di Autopilot, il tool che integra l'Intelligenza Artificiale nei processi di sviluppo e utilizzo delle Automazioni.
📕 Vedremo insieme alcuni esempi dell'utilizzo di Autopilot in diversi tool della Suite UiPath:
Autopilot per Studio Web
Autopilot per Studio
Autopilot per Apps
Clipboard AI
GenAI applicata alla Document Understanding
👨🏫👨💻 Speakers:
Stefano Negro, UiPath MVPx3, RPA Tech Lead @ BSP Consultant
Flavio Martinelli, UiPath MVP 2023, Technical Account Manager @UiPath
Andrei Tasca, RPA Solutions Team Lead @NTT Data
Smart TV Buyer Insights Survey 2024 by 91mobiles.pdf91mobiles
91mobiles recently conducted a Smart TV Buyer Insights Survey in which we asked over 3,000 respondents about the TV they own, aspects they look at on a new TV, and their TV buying preferences.
Elevating Tactical DDD Patterns Through Object CalisthenicsDorra BARTAGUIZ
After immersing yourself in the blue book and its red counterpart, attending DDD-focused conferences, and applying tactical patterns, you're left with a crucial question: How do I ensure my design is effective? Tactical patterns within Domain-Driven Design (DDD) serve as guiding principles for creating clear and manageable domain models. However, achieving success with these patterns requires additional guidance. Interestingly, we've observed that a set of constraints initially designed for training purposes remarkably aligns with effective pattern implementation, offering a more ‘mechanical’ approach. Let's explore together how Object Calisthenics can elevate the design of your tactical DDD patterns, offering concrete help for those venturing into DDD for the first time!
zkStudyClub - Reef: Fast Succinct Non-Interactive Zero-Knowledge Regex ProofsAlex Pruden
This paper presents Reef, a system for generating publicly verifiable succinct non-interactive zero-knowledge proofs that a committed document matches or does not match a regular expression. We describe applications such as proving the strength of passwords, the provenance of email despite redactions, the validity of oblivious DNS queries, and the existence of mutations in DNA. Reef supports the Perl Compatible Regular Expression syntax, including wildcards, alternation, ranges, capture groups, Kleene star, negations, and lookarounds. Reef introduces a new type of automata, Skipping Alternating Finite Automata (SAFA), that skips irrelevant parts of a document when producing proofs without undermining soundness, and instantiates SAFA with a lookup argument. Our experimental evaluation confirms that Reef can generate proofs for documents with 32M characters; the proofs are small and cheap to verify (under a second).
Paper: https://eprint.iacr.org/2023/1886
Securing your Kubernetes cluster_ a step-by-step guide to success !KatiaHIMEUR1
Today, after several years of existence, an extremely active community and an ultra-dynamic ecosystem, Kubernetes has established itself as the de facto standard in container orchestration. Thanks to a wide range of managed services, it has never been so easy to set up a ready-to-use Kubernetes cluster.
However, this ease of use means that the subject of security in Kubernetes is often left for later, or even neglected. This exposes companies to significant risks.
In this talk, I'll show you step-by-step how to secure your Kubernetes cluster for greater peace of mind and reliability.
The Art of the Pitch: WordPress Relationships and SalesLaura Byrne
Clients don’t know what they don’t know. What web solutions are right for them? How does WordPress come into the picture? How do you make sure you understand scope and timeline? What do you do if sometime changes?
All these questions and more will be explored as we talk about matching clients’ needs with what your agency offers without pulling teeth or pulling your hair out. Practical tips, and strategies for successful relationship building that leads to closing the deal.
Welcome to the first live UiPath Community Day Dubai! Join us for this unique occasion to meet our local and global UiPath Community and leaders. You will get a full view of the MEA region's automation landscape and the AI Powered automation technology capabilities of UiPath. Also, hosted by our local partners Marc Ellis, you will enjoy a half-day packed with industry insights and automation peers networking.
📕 Curious on our agenda? Wait no more!
10:00 Welcome note - UiPath Community in Dubai
Lovely Sinha, UiPath Community Chapter Leader, UiPath MVPx3, Hyper-automation Consultant, First Abu Dhabi Bank
10:20 A UiPath cross-region MEA overview
Ashraf El Zarka, VP and Managing Director MEA, UiPath
10:35: Customer Success Journey
Deepthi Deepak, Head of Intelligent Automation CoE, First Abu Dhabi Bank
11:15 The UiPath approach to GenAI with our three principles: improve accuracy, supercharge productivity, and automate more
Boris Krumrey, Global VP, Automation Innovation, UiPath
12:15 To discover how Marc Ellis leverages tech-driven solutions in recruitment and managed services.
Brendan Lingam, Director of Sales and Business Development, Marc Ellis
Observability Concepts EVERY Developer Should Know -- DeveloperWeek Europe.pdfPaige Cruz
Monitoring and observability aren’t traditionally found in software curriculums and many of us cobble this knowledge together from whatever vendor or ecosystem we were first introduced to and whatever is a part of your current company’s observability stack.
While the dev and ops silo continues to crumble….many organizations still relegate monitoring & observability as the purview of ops, infra and SRE teams. This is a mistake - achieving a highly observable system requires collaboration up and down the stack.
I, a former op, would like to extend an invitation to all application developers to join the observability party will share these foundational concepts to build on:
UiPath Test Automation using UiPath Test Suite series, part 4DianaGray10
Welcome to UiPath Test Automation using UiPath Test Suite series part 4. In this session, we will cover Test Manager overview along with SAP heatmap.
The UiPath Test Manager overview with SAP heatmap webinar offers a concise yet comprehensive exploration of the role of a Test Manager within SAP environments, coupled with the utilization of heatmaps for effective testing strategies.
Participants will gain insights into the responsibilities, challenges, and best practices associated with test management in SAP projects. Additionally, the webinar delves into the significance of heatmaps as a visual aid for identifying testing priorities, areas of risk, and resource allocation within SAP landscapes. Through this session, attendees can expect to enhance their understanding of test management principles while learning practical approaches to optimize testing processes in SAP environments using heatmap visualization techniques
What will you get from this session?
1. Insights into SAP testing best practices
2. Heatmap utilization for testing
3. Optimization of testing processes
4. Demo
Topics covered:
Execution from the test manager
Orchestrator execution result
Defect reporting
SAP heatmap example with demo
Speaker:
Deepak Rai, Automation Practice Lead, Boundaryless Group and UiPath MVP
GDG Cloud Southlake #33: Boule & Rebala: Effective AppSec in SDLC using Deplo...James Anderson
Effective Application Security in Software Delivery lifecycle using Deployment Firewall and DBOM
The modern software delivery process (or the CI/CD process) includes many tools, distributed teams, open-source code, and cloud platforms. Constant focus on speed to release software to market, along with the traditional slow and manual security checks has caused gaps in continuous security as an important piece in the software supply chain. Today organizations feel more susceptible to external and internal cyber threats due to the vast attack surface in their applications supply chain and the lack of end-to-end governance and risk management.
The software team must secure its software delivery process to avoid vulnerability and security breaches. This needs to be achieved with existing tool chains and without extensive rework of the delivery processes. This talk will present strategies and techniques for providing visibility into the true risk of the existing vulnerabilities, preventing the introduction of security issues in the software, resolving vulnerabilities in production environments quickly, and capturing the deployment bill of materials (DBOM).
Speakers:
Bob Boule
Robert Boule is a technology enthusiast with PASSION for technology and making things work along with a knack for helping others understand how things work. He comes with around 20 years of solution engineering experience in application security, software continuous delivery, and SaaS platforms. He is known for his dynamic presentations in CI/CD and application security integrated in software delivery lifecycle.
Gopinath Rebala
Gopinath Rebala is the CTO of OpsMx, where he has overall responsibility for the machine learning and data processing architectures for Secure Software Delivery. Gopi also has a strong connection with our customers, leading design and architecture for strategic implementations. Gopi is a frequent speaker and well-known leader in continuous delivery and integrating security into software delivery.
2. Consanguinity is a term, derived from two Latin words
con " meanscommon , orof the same and "sanguineus " meansblood"
Hence, referring to a relationship between two people who share a
common ancestor or blood
In genetics,a consanguineous marriage means union between couples
who are related as second cousins or closer Alwan A, Modell B
Endogamy is the marriage within a specific group or class with in the
[same population [isolated populations, small towns, villages or tribes
3. Introduction
Little quantitative information on consanguinity is available from
regions of high predisposition to consanguineous marriages
Different religious and cultural opinions and subsequently
legislatives, most of them prohibit or even ban consanguineous
marriages; especially first-cousin marriages
of the global population are related as second cousins or 10.4%
closer
Mortality in first-cousin progeny is ~3.5% higher than that in
non-consanguineous offspring
Although the overall prevalence of consanguineous marriage
seems to be declining, in some countries the present rates of
consanguinity exceed those of the preceding generations like
Qatar, Yemen, and UAE Tadmouri G.O et al
4. The Current Global Prevalence of
Consanguineous Marriage
Consanguinity rates vary from one population to another depending
on religion, culture and geography
Global distribution of marriages between couples related as second cousins or closer
5. Consanguinity Rates in Arab Populations
1C<
Double first-cousin
marriage
1C
First-cousin
marriage
Source: Tadmouri G.O et al, Reproductive Health .2009
7. Contrasting biological and social outcomes
of consanguineous marriage in traditional
rural and modern urban settings
Consanguineous marriages are
generally thought to be more
stable than marriages
between non-relatives
Societies with high
consanguinity rates have to
understand and prevent the
deleterious impact of
.consanguinity on health
Guidelines for health care
providers to assist them in
counseling for consanguinity
8. Population Stratification
Population stratification has critical importance in studying
consanguinity-associated morbidity and mortality
Greater importance in larger populations with more diverse
genetic origins
Population substructure often results in variant marker
allele frequencies in different subpopulations
In most populations theclan or its hereditary equivalent
may be the most logical unit for genetic screening
9. Influence of Consanguinity on
Complex Diseases
Consanguinity expected to exert a greater influence on
the complex diseases ifrare autosomal recessive alleles
were causally implicated, Whether in common
disease/common variant or common disease /rare
variant
While if the involved disease alleles are common in the
gene pool, then intra-familial marriage would have a
relatively lesser effect
Different impacts on adulthood complex diseases &
congenital defects
For example:+ve for Schizophrenia and Alzheimer
for Breast Cancer and Hypertensionve-
10. Dalmatian islands study indicated a positive association
between inbreeding and a wide range of adulthood disorders
Ubiquitous involvement of rare autosomal recessive genes in
adult-onset complex diseases. As an increasing in the
genomewide heterozygosity after a decline in consanguineous
marriage, lead to a widespread reduction in the burden of
complex diseases
Pakistani community in the United Kingdom studyexamined
the influence of first-cousin marriage on autosomal recessive
single-gene disorders
A 7/1,000 increase in autosomal recessive disorders per 0.01
.increase in the mean coefficient of inbreeding
In the Pakistan national population, where 50% of marriages
were between first cousins. Some 22/1,000 extra single-gene
disorders would be expected
11. Comparative mortality in first cousin versus non-
consanguineous progeny in 69 study populations
mean excess
mortality at
first-cousin
level of 3.5%
1C first cousin NC non-consanguineous
12. Consanguinity and Susceptibility to
Infectious Diseases in Humans
At least in Animal Populations
Low genetic heterozygosity is a risk
factor for infection by a diverse
range of pathogens
In This Study
Microsatellite genome screen data
fortuberculosis ,hepatitis and
leprosy, used to test the
hypothesis that inbreeding
depression increases risk of
infection
13. Introduction
Studies link between genetic diversity and disease
susceptibility are increasing
Two mechanisms may be responsible for maintenance of
pathogens in a population
inbreeding depression andbalancing selection
It remains unclear if these animal studies have any
relevance to human
Consanguinity has been implicated in susceptibility to
a number of human diseases includingheart disease,
multiple sclerosis ,depression andasthma
14. In This First Study of its Kind in
Humans
They used microsatellite genome screen linkage data for
three infectious diseases in contrasting populations
,tuberculosis inGambia
hepatitis B both inGambia andItaly
and leprosy inIndia
To determine the extent of genomewide heterozygosity as
an important predictor of susceptibility to some diseases
Particularly in populations where inbreeding is common
15. Results
Strong association between consanguinity and human
susceptibility to both TB and hepatitis B in West Africans
No significant association for hepatitis B in the Italians,
probably due to the low levels of consanguinity
No significant association in the leprosy dataset in Indians,
where the heterozygosity–heterozygosity correlations
indicate similar levels of inbreeding in both cases and
controls
16. Results
In two of three examples where a population has high
levels of consanguineous marriages, affected individuals
reveal significant evidence of inbreeding compared with
unaffected controls
Leprosy in India is an exception, as it thought to be
strongly associated with two major effect loci
/oligogenicity
Therefore, may be that persistent, strong inbreeding in
the Indian populations has led to genetic purging
17. Correlations in heterozygosity among markers
for affected and unaffected individuals
A the entire dataset
R affected family
stronger impact of
consanguinity on hepatitis
than on TB
unaffected individuals
yielded a higher correlation
than for affected
individuals
,** p>0.0009of consanguinity in each population is in brackets, * p>0.05 %
18. Relationship between the strength of the heterozygosity
and the proportion of inbred individuals
second cousins
first cousins
equal mixture
of the two
first-cousin
marriages appear
necessary in
order to account
for the values
observed in Gambia