A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Slides from an Apple Keynote presentation given by Jackson David Reynolds on December 1, 2015 at the University of North Georgia, Gainesville campus for Dr. Jeanelle Morgan, PhD’s Genetics course.
Percorso assistenziale del bambino con bisogni complessi.
Dalla dimissione ospedaliera alla presa in carico da parte dei servizi riabilitativi.
Autore: Rosalia Maria Da Riol, Centro Coordinamento Malattie Rare FVG, Azienda O-U S. Maria della Misericordia
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Slides from an Apple Keynote presentation given by Jackson David Reynolds on December 1, 2015 at the University of North Georgia, Gainesville campus for Dr. Jeanelle Morgan, PhD’s Genetics course.
Percorso assistenziale del bambino con bisogni complessi.
Dalla dimissione ospedaliera alla presa in carico da parte dei servizi riabilitativi.
Autore: Rosalia Maria Da Riol, Centro Coordinamento Malattie Rare FVG, Azienda O-U S. Maria della Misericordia
Scaling from Bare Metal to Behemoth with Docker and .NET vNextJakub Krajcovic
Presented at the Sydney Xerocon 2014, this presentation talks about how to leverage new concepts and technologies such as Docker and the new version of .NET called vNext to create ultra scalable environments and solve problems such as code shipping, dependencies and so on.
Основным направлением деятельности компании является разработка комплексных продающих решений для бизнеса.
Одним из таких решений является создание представительства Вашей компании в сети интернет. Мы разрабатывает недорогие, функциональные, продающие сайты.
Минимальная стоимость 150$.
В состав пакета услуг входит:
До 5 страниц сайта
• Наполнение материалом заказчика
• Домен .ru или co.ua
• Хостинг и почта на 1 год
• Система управления + обучение
• Подготовка сайта к продвижению по поиску
• Статистика посещений
• Техническая поддержка
Кроме того, компания дарит своим клиентам дополнительные настройки
• Настройка URL
• Настройка слайдера
• Вставка видео ролика
• Кнопки социальных сетей
• Настройка защиты от спама
• Резервное копирование сайта
• Регистрация в Яндексе и Гугле
• Защита сайта от копирования
• Установка и настройка SEO плагина
Наши сайты быстро находят в поисковых системах!
http://inet-marketing.ru/zakazat-gotovyj-sajt
Openstack presentation presented to the Sysadmins Guild in Australia. Talks about what Openstack is, where it's coming from, how it is evolving and growing and where it's going.
Talk presented to the wide technical audience at Rackspace for the internal tech conference Rax.io. Talks about how ZeroVM can be used together with Openstack to revolutionise several industries, most notable the Visual Effects industry and other industries focused on processing large amounts of binary data.
GENDER DIFFERENCE ON CASE DETECTION OF PULMONARY - Dr. Kapil Amgain DrKapilAmgain
GENDER DIFFERENCE ON CASE DETECTION OF PULMONARY
TUBERCULOSIS AMONG THE SUSPECTED CASES ATTENDING
IN JUTPANI PRIMARY HEALTH CENTRE OF CHITWAN, NEPAL.
Amgain Kapil1, Paudel DP2, Paneru DP3, Dhital Mukesh4, Amgain Ganesh5
1 Tribhuvan University, Central Department of Zoology, University Campus, Kirtipur, Kathmandu, Nepal
2 Department of Public Health, JN Medical College, KLE University, Nehru Nagar, Belgaum, Karnataka, India
3 Department of Public Health, Pokhara University, Kaski, Nepal
4 JN Medical College, KLE University, Nehru Nagar, Belgaum, Karnataka, India
5 Tribhuvan University, Central Department of Phychology, University Campus, Kirtipur, Kathmandu, Nepal
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.
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
Genetics in Orthodontics from Graber's, Proffit's, Bhalajhi's book of Orthodontics.
Pictures taken from American journal of orthodontics.
Introduction
Methods to study genetic factors involved
Various genetic traits in orthodontics
Clinical implications in orthodontics
Conclusion
Bibliography
General approach to patient with genetic disorders and skeletal dysplasias. Approach to children with dwarfism and classification into various categories and further management of the cases based upon the recent knowledge of genetics and recent advances.
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
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
Etiology of malocclusion /certified fixed orthodontic courses by Indian denta...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.
Similar to Approach to Dysmorphic Infant or Child (20)
A Strategic Approach: GenAI in EducationPeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
Honest Reviews of Tim Han LMA Course Program.pptxtimhan337
Personal development courses are widely available today, with each one promising life-changing outcomes. Tim Han’s Life Mastery Achievers (LMA) Course has drawn a lot of interest. In addition to offering my frank assessment of Success Insider’s LMA Course, this piece examines the course’s effects via a variety of Tim Han LMA course reviews and Success Insider comments.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
2024.06.01 Introducing a competency framework for languag learning materials ...
Approach to Dysmorphic Infant or Child
1. Approach to diagnosis of
Malformed Infant & Child
Mohammad Al-Haggar, MD.
Professor of Genetics
2. Dysmorphology vs. IEM.
• Abnormal structure ±
abnormal function
minor vs. major
dysmorphism
• Normal structure but
with abnormal
function IEMs
(enzymopathy).
Structure vs. Function
M. Al-Haggar, MD.
3. History
• Pedigree inheritance, RR.
• Parental age maternal, paternal
• Consanguinity.
• Abortion and still birth.
• Age of presentation and course.
M. Al-Haggar, MD.
4. Nomenclature
• Congenital vs Developmental / Genetic.
• Single vs multiple Major vs minor.
• Sequence vs Syndrome.
• Deformity.
• Malformation.
• Disruption.
• Dysplasia.
M. Al-Haggar, MD.
6. Diagramatic Sketch
• Malformation Production intrinsic defect
failure of embryonic proliferation and/or
differentiation Abnormal structure.
• Disruptions Production extrinsic (disruptive)
agents interferes with embryonic development of
a structure destruction or removal of structure.
• Dysplasias Production intrinsic defect abnormal
cellular organization abnormal model of structure.
• Deformation Packaging extrinsic defect
normally formed structure pushed out by mechanical
forces.
Production,Intrinsic
EXtrinsic
7. Flow Chart
• Number of malformation.
• Number of involved tissue.
• Presence of tissue damage.
• Presence of Joint and bone Involvement.
M. Al-Haggar, MD.
8. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne ≥ Two≥ Two
YesYes NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes NoNo
10. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne
Dysplasia
≥ Two≥ Two
YesYes NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes NoNo
16. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne ≥ Two≥ Two
YesYes
Disruption Sequence
NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes NoNo
M. Al-Haggar, MD.
24. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne ≥ Two≥ Two
YesYes
Deformation Sequence
NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes NoNo
M. Al-Haggar, MD.
32. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne ≥ Two≥ Two
YesYes NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes
Malformation
or MMS
NoNo
M. Al-Haggar, MD.
37. Algorithm for Malformed Infant
1. Number of Malformations1. Number of Malformations
2. No. of Involved tissues2. No. of Involved tissues
3. Primary Tissue Destruction3. Primary Tissue Destruction
May be minor or major
Single / IsolatedSingle / Isolated MultipleMultiple
OneOne
Dysplasia
≥ Two≥ Two
YesYes
Disruption Sequence
Deformation Sequence Fetal Akinesia Syndrome:-
1.Oligohydraminos Renal Agenesis (Potter).
2.Myopathic / Neuropathic Athrogryposis (AMC).
NoNo
4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement
YesYes
Malformation or MMS
NoNo
46. Dysmorphology Pearls
• Pursed up lips.
• Heterochromia iridis.
• Eversion of lateral third of lower eyelid.
• Webbing of the neck.
• Absent clavicles.
• Inverted nipples.
• Broad thumbs / great toes.
• Radial ray defects.
• Thrombocytopenia absent radius syndrome.
• Mitten hands.
• Hyper extensibility of skin and joints.
M. Al-Haggar, MD.
49. Major malformation NTD;
meningomyelocele,
and occipital encephalocele
Minor malformation (Polydactyly)
Postaxial Common, isolated
malformation or part of a syndrome.
Preaxial rare, usually syndromic.
M. Al-Haggar, MD.
50. CDG Inverted nipples, Abnormal fat distribution, FTT, severe
developmental delay.
M. Al-Haggar, MD.
1. Pedigree (3-generation) to recognize pattern of inheritance e.g. AR Seckel syndrome, AD Ehlers Danlos with hyperextensibility of joints and skin, X-linked Aarskog syndrome (brachydactyly, hypertelorism, hypospadias and shawl scrotum) RR
2. Parental ages at the time of conception. Advanced maternal age numerical chromosomal anomalies e.g. trisomy 21, 13, and 18. However Turner 45, XO is not associated with advanced maternal age. Advanced paternal age new mutations in single genes e.g. in AD conditions (Achondroplasia, Marfan and Apert syndrome).
3. Consanguinity doubles risk of a malformation syndrome and increases RR of rare AR disorders. Conversely AR disorders with high gene frequency in the population, e.g. thalassemia, could occur without consanguinity.
4. Abortions, stillbirths (balanced chromosomal translocation in either parent, or an X linked dominant disorder with lethality in males e.g. Rett syndrome), Maternal illness (DM, PKU), infections (TORCH) and drugs and teratoges e.g. anticonvulsants malformations.
5. Age of onset and course of disorder: progression symptoms/signs of (developmental delay/ abnormal behavior pattern) some syndromes have very subtle features at onset BUT diagnosis will be made easy on follow up e.g. Noonan.
Malformation intrinsic no structure e.g. Cleft lip and palate, VSD, Neural tube defect.
Disruptions extrinsic (disruptive) agents destruction or removal structure. Disruptive agents can be amniotic bands (amputated limb or digit, craniofacial defect (encephalocele), congenital viral infections and tissue ischemia/ hemorrhage (caudal regression, intestinal atresia). RR is low.
Dysplasias Production Intrinsic defect abnormally abnormal cellular organization abnormal model of structure. It usually involves only one tissue type throughout the body secondary to mutations in relevant genes e.g. skeletal dysplasia and ectodermal dysplasia, osteogensis imperfecta, Lysosomal storage (MPS, ML).
Deformation (Packaging defect) normally formed structure pushed out by mechanical forces e.g. restricted fetal movements e.g. twins, oligohydramnios, uterine anomalies or fetal neurologic defects (spina bifida) club feet (Talipes), distal arhrogryposis, hip dislocation. Good prognosis with a low RR. So, Deformity is altered shape of a part (outlier i.e. outside normal range).
Extreme form of caudal regression syndrome (Lumbosacral dysgenesis).