This document describes a study conducted at the Medical Genetics Center in Iasi, Romania to diagnose the genetic causes of mental retardation in patients. Researchers developed a clinical protocol involving tests like karyotyping, fragile X testing, and MLPA to efficiently screen 200 patients. Results identified numerous chromosomal abnormalities, four specific monogenic disorders, and subtelomeric rearrangements in some patients. The De Vries score was found useful for case selection. MLPA was reliable for subtelomeric screening and identifying complex chromosomal changes. The protocol provides an effective approach but could be optimized further.
Mental retardation, also known as intellectual disabilities, refers to an IQ below 70 that develops before age 18 and affects 1-3% of the population. It has over 250 known biological and environmental causes, including genetic factors, chromosomal abnormalities, prenatal/perinatal injuries, and childhood disorders. Students with mental retardation receive educational supports that vary depending on their level of adaptive and intellectual functioning. While terminology and definitions have evolved, assessments still primarily rely on IQ cut-offs, though adaptive behavior is also considered.
This document discusses the management of mental retardation. It notes that mental retardation is determined based on three criteria: intelligence quotient, limitations in two or more adaptive behaviors, and these limitations becoming apparent in childhood. It provides classifications of mental retardation based on IQ scores. Other sections discuss investigations, screening tests, prevention, drug therapy, treatment strategies, and mainstreaming of those with mental retardation.
This document discusses the management and prevention of intellectual disability. It covers primary, secondary, and tertiary prevention strategies, including improving prenatal care, newborn screening, early detection and intervention. Treatment involves a multidisciplinary team and addressing issues like self-image, psychiatric comorbidities, rehabilitation, and parental counseling. Psychological assessment tools and guidelines are also outlined.
This document defines mental retardation as significantly below average intellectual functioning and impaired adaptive behaviors that manifest during development. It estimates the prevalence of mental retardation globally and in India. Causes include genetic factors like Down syndrome, metabolic disorders, infections during pregnancy, birth complications, and childhood illnesses. Mental retardation is classified by IQ scores into mild, moderate, severe and profound. Signs and symptoms, diagnosis, treatment including behavioral management and nursing care are discussed. The prognosis has improved with early intervention and mainstream education focusing on developing life skills.
This document discusses mental retardation, including definitions, classifications, degrees of severity, common genetic causes like Down syndrome and fragile X syndrome, epidemiology, comorbid conditions, etiology, and specific genetic syndromes associated with intellectual disabilities like phenylketonuria. It provides information on prominent advocacy organizations, how mental retardation is diagnosed and coded in diagnostic manuals, and adaptive and intellectual functioning assessments.
El documento parece estar escrito en un idioma que no reconozco. No puedo generar un resumen útil de solo 3 oraciones debido a que no entiendo el contenido o significado del texto original.
Mental retardation, also known as intellectual disabilities, refers to an IQ below 70 that develops before age 18 and affects 1-3% of the population. It has over 250 known biological and environmental causes, including genetic factors, chromosomal abnormalities, prenatal/perinatal injuries, and childhood disorders. Students with mental retardation receive educational supports that vary depending on their level of adaptive and intellectual functioning. While terminology and definitions have evolved, assessments still primarily rely on IQ cut-offs, though adaptive behavior is also considered.
This document discusses the management of mental retardation. It notes that mental retardation is determined based on three criteria: intelligence quotient, limitations in two or more adaptive behaviors, and these limitations becoming apparent in childhood. It provides classifications of mental retardation based on IQ scores. Other sections discuss investigations, screening tests, prevention, drug therapy, treatment strategies, and mainstreaming of those with mental retardation.
This document discusses the management and prevention of intellectual disability. It covers primary, secondary, and tertiary prevention strategies, including improving prenatal care, newborn screening, early detection and intervention. Treatment involves a multidisciplinary team and addressing issues like self-image, psychiatric comorbidities, rehabilitation, and parental counseling. Psychological assessment tools and guidelines are also outlined.
This document defines mental retardation as significantly below average intellectual functioning and impaired adaptive behaviors that manifest during development. It estimates the prevalence of mental retardation globally and in India. Causes include genetic factors like Down syndrome, metabolic disorders, infections during pregnancy, birth complications, and childhood illnesses. Mental retardation is classified by IQ scores into mild, moderate, severe and profound. Signs and symptoms, diagnosis, treatment including behavioral management and nursing care are discussed. The prognosis has improved with early intervention and mainstream education focusing on developing life skills.
This document discusses mental retardation, including definitions, classifications, degrees of severity, common genetic causes like Down syndrome and fragile X syndrome, epidemiology, comorbid conditions, etiology, and specific genetic syndromes associated with intellectual disabilities like phenylketonuria. It provides information on prominent advocacy organizations, how mental retardation is diagnosed and coded in diagnostic manuals, and adaptive and intellectual functioning assessments.
El documento parece estar escrito en un idioma que no reconozco. No puedo generar un resumen útil de solo 3 oraciones debido a que no entiendo el contenido o significado del texto original.
Umbra is a stealth technology company that develops augmented reality systems to help soldiers and first responders. Their flagship product is the Umbra Tactical Augmented Reality System (UTARS) which projects holograms onto a soldier's visor to provide situational awareness and mission critical data without revealing their position or exposing them to danger. UTARS aims to enhance situational awareness and decision making while keeping users safe in hazardous environments.
The document discusses summarizing information concisely in a single word. Providing concise yet informative summaries allows for efficiently conveying key details and concepts from a document in as few words as possible. Summarizing skills are useful for effectively communicating complex ideas or large amounts of information in a clear and straightforward manner.
This document lists various domestic animals including dogs, sheep, pigs, goats, cows, cats, chickens, roosters, ducks, geese, turkeys, rabbits, water buffalo, and other farm animals.
The document discusses the sensory systems and processing, providing information on the different sensory systems (tactile, vestibular, proprioception, auditory, visual, olfactory, and gustatory), how they function, possible problems with sensory processing, and strategies to address behaviors related to sensory needs.
The document discusses the sensory systems and how they work together to give us information about the world. It describes the main sensory systems - tactile, vestibular, proprioception, auditory, visual, olfactory, and gustatory. It explains how sensory processing occurs and potential problems with sensory processing. The roles of different neurotransmitters are outlined. Sensory behaviors and strategies to address them are provided, along with calming and alerting activities.
The document outlines the daily routine and schedule for a classroom. It includes purposes and descriptions for different parts of the day like entrance routine, sensory activities, reviewing the schedule, morning dialogue, independent work, calendar/circle time, rotations between activities, you choose time, peer buddies, academics/small groups, relaxation, art/music/gym, and reviewing the day's activities. The schedule is designed to promote independence, reduce anxiety, and provide a variety of learning experiences including sensory, social, and academic activities.
Introduction To Structured Teaching For TranslationMihaiela Fazacas
The document provides an introduction to structured teaching for students with autism. Structured teaching is based on the Heartland Model and incorporates elements from TEACCH. Its primary goal is to develop independence and communication skills through visual structure, schedules, and work systems. These tools make the environment more predictable and help students understand expectations and complete tasks independently.
This document discusses Alport Syndrome, a genetic disorder that affects the glomerular basement membrane (GBM) and can cause progressive kidney disease. It presents three cases of Alport Syndrome with different modes of inheritance: X-linked dominant, autosomal recessive, and autosomal dominant. For each case, it describes the patients' clinical features and pedigrees to demonstrate how inheritance patterns were determined. The conclusion emphasizes the importance of thoroughly examining probands, relatives, and renal biopsy ultrastructure to establish diagnoses and inheritance patterns in Alport Syndrome families.
Generating privacy-protected synthetic data using Secludy and MilvusZilliz
During this demo, the founders of Secludy will demonstrate how their system utilizes Milvus to store and manipulate embeddings for generating privacy-protected synthetic data. Their approach not only maintains the confidentiality of the original data but also enhances the utility and scalability of LLMs under privacy constraints. Attendees, including machine learning engineers, data scientists, and data managers, will witness first-hand how Secludy's integration with Milvus empowers organizations to harness the power of LLMs securely and efficiently.
Umbra is a stealth technology company that develops augmented reality systems to help soldiers and first responders. Their flagship product is the Umbra Tactical Augmented Reality System (UTARS) which projects holograms onto a soldier's visor to provide situational awareness and mission critical data without revealing their position or exposing them to danger. UTARS aims to enhance situational awareness and decision making while keeping users safe in hazardous environments.
The document discusses summarizing information concisely in a single word. Providing concise yet informative summaries allows for efficiently conveying key details and concepts from a document in as few words as possible. Summarizing skills are useful for effectively communicating complex ideas or large amounts of information in a clear and straightforward manner.
This document lists various domestic animals including dogs, sheep, pigs, goats, cows, cats, chickens, roosters, ducks, geese, turkeys, rabbits, water buffalo, and other farm animals.
The document discusses the sensory systems and processing, providing information on the different sensory systems (tactile, vestibular, proprioception, auditory, visual, olfactory, and gustatory), how they function, possible problems with sensory processing, and strategies to address behaviors related to sensory needs.
The document discusses the sensory systems and how they work together to give us information about the world. It describes the main sensory systems - tactile, vestibular, proprioception, auditory, visual, olfactory, and gustatory. It explains how sensory processing occurs and potential problems with sensory processing. The roles of different neurotransmitters are outlined. Sensory behaviors and strategies to address them are provided, along with calming and alerting activities.
The document outlines the daily routine and schedule for a classroom. It includes purposes and descriptions for different parts of the day like entrance routine, sensory activities, reviewing the schedule, morning dialogue, independent work, calendar/circle time, rotations between activities, you choose time, peer buddies, academics/small groups, relaxation, art/music/gym, and reviewing the day's activities. The schedule is designed to promote independence, reduce anxiety, and provide a variety of learning experiences including sensory, social, and academic activities.
Introduction To Structured Teaching For TranslationMihaiela Fazacas
The document provides an introduction to structured teaching for students with autism. Structured teaching is based on the Heartland Model and incorporates elements from TEACCH. Its primary goal is to develop independence and communication skills through visual structure, schedules, and work systems. These tools make the environment more predictable and help students understand expectations and complete tasks independently.
This document discusses Alport Syndrome, a genetic disorder that affects the glomerular basement membrane (GBM) and can cause progressive kidney disease. It presents three cases of Alport Syndrome with different modes of inheritance: X-linked dominant, autosomal recessive, and autosomal dominant. For each case, it describes the patients' clinical features and pedigrees to demonstrate how inheritance patterns were determined. The conclusion emphasizes the importance of thoroughly examining probands, relatives, and renal biopsy ultrastructure to establish diagnoses and inheritance patterns in Alport Syndrome families.
Generating privacy-protected synthetic data using Secludy and MilvusZilliz
During this demo, the founders of Secludy will demonstrate how their system utilizes Milvus to store and manipulate embeddings for generating privacy-protected synthetic data. Their approach not only maintains the confidentiality of the original data but also enhances the utility and scalability of LLMs under privacy constraints. Attendees, including machine learning engineers, data scientists, and data managers, will witness first-hand how Secludy's integration with Milvus empowers organizations to harness the power of LLMs securely and efficiently.
HCL Notes und Domino Lizenzkostenreduzierung in der Welt von DLAUpanagenda
Webinar Recording: https://www.panagenda.com/webinars/hcl-notes-und-domino-lizenzkostenreduzierung-in-der-welt-von-dlau/
DLAU und die Lizenzen nach dem CCB- und CCX-Modell sind für viele in der HCL-Community seit letztem Jahr ein heißes Thema. Als Notes- oder Domino-Kunde haben Sie vielleicht mit unerwartet hohen Benutzerzahlen und Lizenzgebühren zu kämpfen. Sie fragen sich vielleicht, wie diese neue Art der Lizenzierung funktioniert und welchen Nutzen sie Ihnen bringt. Vor allem wollen Sie sicherlich Ihr Budget einhalten und Kosten sparen, wo immer möglich. Das verstehen wir und wir möchten Ihnen dabei helfen!
Wir erklären Ihnen, wie Sie häufige Konfigurationsprobleme lösen können, die dazu führen können, dass mehr Benutzer gezählt werden als nötig, und wie Sie überflüssige oder ungenutzte Konten identifizieren und entfernen können, um Geld zu sparen. Es gibt auch einige Ansätze, die zu unnötigen Ausgaben führen können, z. B. wenn ein Personendokument anstelle eines Mail-Ins für geteilte Mailboxen verwendet wird. Wir zeigen Ihnen solche Fälle und deren Lösungen. Und natürlich erklären wir Ihnen das neue Lizenzmodell.
Nehmen Sie an diesem Webinar teil, bei dem HCL-Ambassador Marc Thomas und Gastredner Franz Walder Ihnen diese neue Welt näherbringen. Es vermittelt Ihnen die Tools und das Know-how, um den Überblick zu bewahren. Sie werden in der Lage sein, Ihre Kosten durch eine optimierte Domino-Konfiguration zu reduzieren und auch in Zukunft gering zu halten.
Diese Themen werden behandelt
- Reduzierung der Lizenzkosten durch Auffinden und Beheben von Fehlkonfigurationen und überflüssigen Konten
- Wie funktionieren CCB- und CCX-Lizenzen wirklich?
- Verstehen des DLAU-Tools und wie man es am besten nutzt
- Tipps für häufige Problembereiche, wie z. B. Team-Postfächer, Funktions-/Testbenutzer usw.
- Praxisbeispiele und Best Practices zum sofortigen Umsetzen
For the full video of this presentation, please visit: https://www.edge-ai-vision.com/2024/06/temporal-event-neural-networks-a-more-efficient-alternative-to-the-transformer-a-presentation-from-brainchip/
Chris Jones, Director of Product Management at BrainChip , presents the “Temporal Event Neural Networks: A More Efficient Alternative to the Transformer” tutorial at the May 2024 Embedded Vision Summit.
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[OReilly Superstream] Occupy the Space: A grassroots guide to engineering (an...Jason Yip
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How to Interpret Trends in the Kalyan Rajdhani Mix Chart.pdfChart Kalyan
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Driving Business Innovation: Latest Generative AI Advancements & Success StorySafe Software
Are you ready to revolutionize how you handle data? Join us for a webinar where we’ll bring you up to speed with the latest advancements in Generative AI technology and discover how leveraging FME with tools from giants like Google Gemini, Amazon, and Microsoft OpenAI can supercharge your workflow efficiency.
During the hour, we’ll take you through:
Guest Speaker Segment with Hannah Barrington: Dive into the world of dynamic real estate marketing with Hannah, the Marketing Manager at Workspace Group. Hear firsthand how their team generates engaging descriptions for thousands of office units by integrating diverse data sources—from PDF floorplans to web pages—using FME transformers, like OpenAIVisionConnector and AnthropicVisionConnector. This use case will show you how GenAI can streamline content creation for marketing across the board.
Ollama Use Case: Learn how Scenario Specialist Dmitri Bagh has utilized Ollama within FME to input data, create custom models, and enhance security protocols. This segment will include demos to illustrate the full capabilities of FME in AI-driven processes.
Custom AI Models: Discover how to leverage FME to build personalized AI models using your data. Whether it’s populating a model with local data for added security or integrating public AI tools, find out how FME facilitates a versatile and secure approach to AI.
We’ll wrap up with a live Q&A session where you can engage with our experts on your specific use cases, and learn more about optimizing your data workflows with AI.
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1. DIAGNOSIS AND MANAGEMENT OF PATIENTS
WITH MENTAL RETARDATION AND
MULTIPLE CONGENITAL ANOMALIES – IASI
MEDICAL GENETICS CENTER’S EXPERIENCE
Rusu Cristina (1), Volosciuc M. (1), Braha E. (1),
Butnariu L. (1), Panzaru M. (1), Popescu R. (1), Caba L
(1), Ivanov Iuliu (2), Gorduza Vlad (2), Covic Mircea (1)
(1) Medical Genetics Centre, “Sf. Maria” Children’s Hospital, Iasi, Romania;
(2) Immunology and Genetics Lab, “Sf. Spiridon” Hospital, Iasi, Romania
2. MENTAL RETARDATION – DEFINITIONS
Mental retardation (MR) = QI < 70;
Prevalence: 3%; Mild MR - 7-10 x more frequent than
moderate/ severe MR;
Evaluation supposes gathering information from specialists
(educator, psychologist, physician) + parents;
Classification:
◦ Mild (IQ 50-70) – 85%;
◦ Moderate (IQ 35-50) – 10%;
◦ Severe (IQ 20-35);
◦ Profound (IQ <20);
13/07/09 2
3. MENTAL RETARDATION – DETERMINISM
Variable according to MR severity;
Mild MR:
o Environment – 75-90% (social factors !);
o Genetic factors – 10-25%;
Severe MR:
o Environment – 50%;
o Genetic factors – 50% (monogenic/ multifactorial disorders/
chromosomal abnormalities).
13/07/09 3
5. MATERIAL AND METHOD
We have designed, optimized and applied an investigation protocol
for mentally retarded individuals; the protocol:
• Covers most genetic causes of moderate/ severe MR;
• Adapted to our lab (equipments/ cost of the reagents);
We have taken 200 mentally retarded patients examined in Iasi
Medical Genetics Center and analyzed the efficiency of the protocol:
• If De Vries score (proposed for subtelomeric rearrangements’
identification) could be used broadly for chromosomal abnormalities
detection;
• If the results provided by screening methods (antiFMRP test and MLPA)
are concordant with diagnostic tests (long range PCR and FISH);
• If the methods chosen are reliable;
6. PROTOCOL OPTIMIZATION
Use selection scores, so that the percent of positive tests
will be good enough;
Choose the cheapest, less dangerous method that provides
good results;
Use a sequence of reactions: first screening tests and then
diagnostic tests, so that the abnormality will be identified
precisely in the end;
Reducing the cost by reducing the amount of reagents used;
7. CLINICAL PROTOCOL
PERSONAL HISTORY (pre/intra/postnatal → exclude MR produced by
the environment);
Extended FAMILY HISTORY → pedigree;
ANTHROPOMETRIC MEASUREMENTS (Ht, Wt, HC, others);
Detailed PHYSICAL EXAMINATION (+ photos);
PSYCHOLOGIC EVALUATION;
EVALUATION
DE VRIES SCORE for case selection;
TEST the child with MR → anomalies identified → test the parents;
GENETIC COUNSELLING (before test, followed by written consent of
the parents; new session when test results were available);
Data recorded in a DATABASE specially designed;
8. DE VRIES SCORE (2001): 3/> points necessary
Criteria Score
Mental retardation family history
• Compatible with monogenic inheritance 1
• Incompatible with monogenic inheritance (including discordant phenotypes) 2
Prenatal onset growth retardation 2
Abnormal postnatal growth (1 point each, maximum 2 points)
• Microcephaly 1
• Short stature 1
• Macrocephaly 1
• Tall stature 1
2/> facial anomalies (mostly hypertelorism, nasal and auricular defects) 2
Extrafacial anomalies (1 point each, maximum 2 points), especially:
• Hand anomalies 1
• Heart defects 1
• Hypospadias +/- criptorchydism 1
9. INVESTIGATION PROTOCOL
KARYOTYPE (→ numerical & structural chromosomal abnormalities);
BARR TEST – for cases that associate abnormal sexual development;
Fragile X screening and diagnosis – done for cases with speech delay/
autism (early signs of Fragile X); positive & negative samples included;
◦ ANTI-FMRP TEST (immunohistochemical test done on hair root) →
screening;
◦ Long range PCR (identifies premutations and complete mutations) →
diagnostic;
MLPA (2 separate kits P036 and P070) → subtelomeric rearrangements (if
the results in both kits are abnormal) and polymorphisms (if the result is
abnormal in a single kit);
FISH → microdeletions / confirm subtelomeric rearrangements;
DNA stored for subsequent tests (after parental consent);
10. RESULTS
53% of patients (106) have been selected for genetic testing; the rest
were due to social causes/ perinatal events/ fetopathies etc;
4 patients had specific monogenic disorders and a DNA sample has
been taken for further confirmation;
15 patients had a Barr test → 3 cases confirmed;
99 patients had a karyotype → 43 cases identified; many of them
were Down syndrome;
7 patients had a FISH test for microdeletion → 1 case confirmed;
55 patients had a MLPA test → 4 cases identified; FISH
confirmation is in due course;
8 patients had FraX testing → all normal;
Structural chromosomal abnormalities identified by karyotype
have been confirmed by MLPA.
17. CONCLUSIONS
De Vries score - useful for case selection (both chromosomal
abnormalities and subtelomeric rearrangements);
MLPA - reliable, fast and unexpensive method that can be used
as a screening method for subtelomeric rearrangements;
MLPA may be used as a complementary method to identify marker
chromosomes/ complex chromosomal abnormalities;
The protocol could be further optimized by extending MLPA for
other applications;
Cases with normal results/ polymorphisms - reevaluated in order to
get a final diagnosis;
Cases identified - followed in order to prevent complications;
clinical description of subtelomeric rearrangements
is an ongoing process.