This document discusses the importance of establishing a national cystic fibrosis network in Romania. Cystic fibrosis is a common genetic disease among people of Caucasian descent. Without early diagnosis and treatment, survival rates are low. The National Cystic Fibrosis Center in Timisoara has worked to improve diagnosis, care standards, and quality of life for cystic fibrosis patients in Romania over the last 40 years. By establishing a national registry and network of regional centers, more patients can now be diagnosed and managed according to guidelines, increasing life expectancy.
The document discusses behavior management for people with Prader-Willi syndrome. It outlines five key aspects of behavior management: 1) understanding behavior through analysis, 2) responding in crisis situations, 3) reflecting after crises, 4) preventing future crises, and 5) empowering caregivers. The overall approach emphasizes understanding triggers, remaining calm and in control during incidents, and using crises as learning opportunities to develop alternative behaviors.
The document provides an overview of Frambu Resource Centre for Rare Disorders in Norway. It describes Frambu's services including in-house family courses, outreach activities, research projects, and information materials. It also lists several rare genetic disorders that Frambu supports. Finally, it summarizes a research project tracking the motor development of preschool children with Prader-Willi syndrome.
The document summarizes the establishment of a national network for hereditary angioedema (HAE) in Romania. It discusses how HAE was previously misunderstood and untreated in Romania. It outlines the goals of building a national patient registry and improving care through education of clinicians. Key activities included workshops, articles, and establishing collaborations with international experts to advance diagnosis and management of HAE in Romania.
This document discusses Prader-Willi syndrome, which is caused by a microdeletion on chromosome 15q11-q13 or lack of expression of paternally inherited genes in this region. The majority of cases involve a paternal deletion, while 2-4% involve a maternal uniparental disomy of chromosome 15. Clinically it is characterized by infantile central hypotonia, feeding problems in infancy leading to failure to thrive, rapid weight gain in childhood, distinctive facial features and developmental delays.
This document discusses the importance of establishing a national cystic fibrosis network in Romania. Cystic fibrosis is a common genetic disease among people of Caucasian descent. Without early diagnosis and treatment, survival rates are low. The National Cystic Fibrosis Center in Timisoara has worked to improve diagnosis, care standards, and quality of life for cystic fibrosis patients in Romania over the last 40 years. By establishing a national registry and network of regional centers, more patients can now be diagnosed and managed according to guidelines, increasing life expectancy.
The document discusses behavior management for people with Prader-Willi syndrome. It outlines five key aspects of behavior management: 1) understanding behavior through analysis, 2) responding in crisis situations, 3) reflecting after crises, 4) preventing future crises, and 5) empowering caregivers. The overall approach emphasizes understanding triggers, remaining calm and in control during incidents, and using crises as learning opportunities to develop alternative behaviors.
The document provides an overview of Frambu Resource Centre for Rare Disorders in Norway. It describes Frambu's services including in-house family courses, outreach activities, research projects, and information materials. It also lists several rare genetic disorders that Frambu supports. Finally, it summarizes a research project tracking the motor development of preschool children with Prader-Willi syndrome.
The document summarizes the establishment of a national network for hereditary angioedema (HAE) in Romania. It discusses how HAE was previously misunderstood and untreated in Romania. It outlines the goals of building a national patient registry and improving care through education of clinicians. Key activities included workshops, articles, and establishing collaborations with international experts to advance diagnosis and management of HAE in Romania.
This document discusses Prader-Willi syndrome, which is caused by a microdeletion on chromosome 15q11-q13 or lack of expression of paternally inherited genes in this region. The majority of cases involve a paternal deletion, while 2-4% involve a maternal uniparental disomy of chromosome 15. Clinically it is characterized by infantile central hypotonia, feeding problems in infancy leading to failure to thrive, rapid weight gain in childhood, distinctive facial features and developmental delays.
This document discusses rehabilitation for rare diseases. It defines rehabilitation as aiming to restore lost functional abilities through medical, educational, social and professional means in order to maximize individual performance and independence. The key aspects of rehabilitation discussed are:
1) Conducting a thorough patient assessment to understand the diagnosis and its physical and psychological impacts.
2) Developing a complex, individualized rehabilitation plan involving medical treatment, rehabilitation services, and involvement from a multidisciplinary team.
3) Having a case manager to oversee the patient's progress and ensure continued updates to the rehabilitation therapy plan.
The document outlines plans to develop an EU-wide database on Prader-Willi syndrome (PWS) to facilitate multi-site clinical research and standardized data collection. The database would allow researchers to combine data between groups and countries over time to study PWS across the lifespan, test hypotheses, and conduct longitudinal and cross-cultural studies. Key considerations include the database structure, management, rules for use, long-term support, and potential collaborative studies using existing data.
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.
Living With Pompe Disease, Sharing Experience, Cluj, Romania 27 June 2009Mihaiela Fazacas
This document summarizes the experiences of living with Pompe disease from the perspective of Maryze Schoneveld van der Linde. It describes the history and discovery of Pompe disease by Dr. J.C. Pompe in 1932. It outlines the progression and symptoms of the disease, including how it affects muscles and can be fatal. It discusses the development of enzyme replacement therapy using recombinant DNA technology and the challenges faced by patients, researchers, and industry in making this treatment available.
The document discusses medical care considerations for children with Prader-Willi syndrome (PWS) from infancy through early childhood. It notes that PWS affects many body systems and symptoms change over time. Medical care should focus on establishing feeding, addressing physical and behavioral characteristics, monitoring growth and development, and managing issues like temperature instability, seizures, joint problems, and risk of obesity. Early intervention is important to establish healthy habits and prevent overweight.
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.
Revista Frunza a Asociației Medisprof a luat naștere ca urmare a nevoii de comunicare intre specialiștii clinicii Medisprof și pacienți. In revista veți regăsi articole legate de activitățile Asociației si partenerilor ei și articole din domeniul radioterapiei, nutriției, psihologiei.
Partenerii oficiali ai Revistei Frunza:
Roche Romania
Oncompass GMBH
Farmacia Vinca
„Cea mai bună reţetă pentru a transforma un
sistem disfuncţional într-unul funcţional este
normalitatea” - Prof. Dr. Irinel Popescu
Protecția socială trebuie să meargă mână în
mână cu creșterea economică
Noul sediu al Facultăţii de Drept şi
Ştiinţe Administrative din Craiova, un
proiect spectaculos
Sibiul, mereu surprinzător
O şcoală românească de tradiţie, salvată
din „ghearele” degradării
Seniorii din Sectorul 2 al Capitalei – o
șansă la incluziunea socială
Finanțare de peste 36 de milioane de lei
pentru serviciile de urgență
Pentru copii, în luna copiilor
Ştiri regionale
Modernizarea și adaptarea procesului de
educație pentru o societate bazată pe
cunoaștere și tehnologie
Bani reali pentru o lume virtuală
Spital de pediatrie pentru secolul XXI
Să mai și zâmbim!
Intimate strangers – Episodes with my father.
(In English with a bilingual English-Romanian Abstract & Introduction by D Cozman)
Psihiatru.ro, 2020, XVI (61): 42-47.
Abstract
In this memoir told in four episodes, the author, an Italian child psychiatrist and family psychotherapist who lives in Canada, revisits his episodic encounters with his father from their first meeting to his father’s death. The first episode recalls how he met his Italian father for the first time in Brazil as an adult. He wrote a memoir about that emotional encounter, entitled “Strangers No More” (1), published in Italian and several other languages, then integrated as the concluding chapter of his book on cultural family therapy, A Stranger in the Family (2). After some 20 years of sporadic father-son and family encounters, the author revisits his relationship with his father and his Brazilian family, following his father’s death in the second episode. Deferred and episodic on one hand, provocative and profound on the other hand, the third episode describes the enigma of his father’s life with the metaphor of “the third bank of the river” (3), after a classic Brazilian short story. Towards the end of his life, with a final, startling revelation about the mysteries of his absence, his father allows the author to recognize retrospectively that they have been familiar but unknown to each other. In the fourth episode, this series of episodic yet profound encounters with the man who became an intimate stranger is understood as nothing less than an event in the author’s life, opening possibilities and transforming everything. The memoir closes with a coda of reflections for therapists on slow thought and evental therapy that has no other object than itself (4).
Keywords: family memoir, father-son relationships, intimate strangers, predicament, threshold therapy, event, slow thought, evental therapy
This document discusses rehabilitation for rare diseases. It defines rehabilitation as aiming to restore lost functional abilities through medical, educational, social and professional means in order to maximize individual performance and independence. The key aspects of rehabilitation discussed are:
1) Conducting a thorough patient assessment to understand the diagnosis and its physical and psychological impacts.
2) Developing a complex, individualized rehabilitation plan involving medical treatment, rehabilitation services, and involvement from a multidisciplinary team.
3) Having a case manager to oversee the patient's progress and ensure continued updates to the rehabilitation therapy plan.
The document outlines plans to develop an EU-wide database on Prader-Willi syndrome (PWS) to facilitate multi-site clinical research and standardized data collection. The database would allow researchers to combine data between groups and countries over time to study PWS across the lifespan, test hypotheses, and conduct longitudinal and cross-cultural studies. Key considerations include the database structure, management, rules for use, long-term support, and potential collaborative studies using existing data.
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.
Living With Pompe Disease, Sharing Experience, Cluj, Romania 27 June 2009Mihaiela Fazacas
This document summarizes the experiences of living with Pompe disease from the perspective of Maryze Schoneveld van der Linde. It describes the history and discovery of Pompe disease by Dr. J.C. Pompe in 1932. It outlines the progression and symptoms of the disease, including how it affects muscles and can be fatal. It discusses the development of enzyme replacement therapy using recombinant DNA technology and the challenges faced by patients, researchers, and industry in making this treatment available.
The document discusses medical care considerations for children with Prader-Willi syndrome (PWS) from infancy through early childhood. It notes that PWS affects many body systems and symptoms change over time. Medical care should focus on establishing feeding, addressing physical and behavioral characteristics, monitoring growth and development, and managing issues like temperature instability, seizures, joint problems, and risk of obesity. Early intervention is important to establish healthy habits and prevent overweight.
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.
Revista Frunza a Asociației Medisprof a luat naștere ca urmare a nevoii de comunicare intre specialiștii clinicii Medisprof și pacienți. In revista veți regăsi articole legate de activitățile Asociației si partenerilor ei și articole din domeniul radioterapiei, nutriției, psihologiei.
Partenerii oficiali ai Revistei Frunza:
Roche Romania
Oncompass GMBH
Farmacia Vinca
„Cea mai bună reţetă pentru a transforma un
sistem disfuncţional într-unul funcţional este
normalitatea” - Prof. Dr. Irinel Popescu
Protecția socială trebuie să meargă mână în
mână cu creșterea economică
Noul sediu al Facultăţii de Drept şi
Ştiinţe Administrative din Craiova, un
proiect spectaculos
Sibiul, mereu surprinzător
O şcoală românească de tradiţie, salvată
din „ghearele” degradării
Seniorii din Sectorul 2 al Capitalei – o
șansă la incluziunea socială
Finanțare de peste 36 de milioane de lei
pentru serviciile de urgență
Pentru copii, în luna copiilor
Ştiri regionale
Modernizarea și adaptarea procesului de
educație pentru o societate bazată pe
cunoaștere și tehnologie
Bani reali pentru o lume virtuală
Spital de pediatrie pentru secolul XXI
Să mai și zâmbim!
Intimate strangers – Episodes with my father.
(In English with a bilingual English-Romanian Abstract & Introduction by D Cozman)
Psihiatru.ro, 2020, XVI (61): 42-47.
Abstract
In this memoir told in four episodes, the author, an Italian child psychiatrist and family psychotherapist who lives in Canada, revisits his episodic encounters with his father from their first meeting to his father’s death. The first episode recalls how he met his Italian father for the first time in Brazil as an adult. He wrote a memoir about that emotional encounter, entitled “Strangers No More” (1), published in Italian and several other languages, then integrated as the concluding chapter of his book on cultural family therapy, A Stranger in the Family (2). After some 20 years of sporadic father-son and family encounters, the author revisits his relationship with his father and his Brazilian family, following his father’s death in the second episode. Deferred and episodic on one hand, provocative and profound on the other hand, the third episode describes the enigma of his father’s life with the metaphor of “the third bank of the river” (3), after a classic Brazilian short story. Towards the end of his life, with a final, startling revelation about the mysteries of his absence, his father allows the author to recognize retrospectively that they have been familiar but unknown to each other. In the fourth episode, this series of episodic yet profound encounters with the man who became an intimate stranger is understood as nothing less than an event in the author’s life, opening possibilities and transforming everything. The memoir closes with a coda of reflections for therapists on slow thought and evental therapy that has no other object than itself (4).
Keywords: family memoir, father-son relationships, intimate strangers, predicament, threshold therapy, event, slow thought, evental therapy
Tema ”Malpraxis și responsabilitate în profesia medicală ” este structurată pe patru capitole (Natura juridică și conținutul raportului personal medical-pacient, Temeiul juridic al răspunderii civile medicale, Particularitățile răspunderii civile medicale și Concluzii) și își propune să clarifice natura contractuală sau legală a raportului juridic personal medical-pacient precum și condițiile angajării răspunderii personalului medical și a unităților sanitare în cazul malpraxisului medical.
Tema ”Malpraxis și responsabilitate în profesia medicală ” este structurată pe patru capitole (Natura juridică și conținutul raportului personal medical-pacient, Temeiul juridic al răspunderii civile medicale, Particularitățile răspunderii civile medicale și Concluzii) și își propune să clarifice natura contractuală sau legală a raportului juridic personal medical-pacient precum și condițiile angajării răspunderii personalului medical și a unităților sanitare în cazul malpraxisului medical.
Comunicarea trebuie să fie: - Deschisă și completă, adaptată nevoilor copilului și particularităților sale de dezvoltare; - Bazată pe demnitate și respect (medicii şi personalul medical ascultă pacientul și iau în considerare nevoile și preferințele sale în luarea deciziei privind planul de îngrijire a sănătăţii); - Construită pe participare - pacienții și familiile lor sunt încurajați să participe la actul medical și la procesul de luare a deciziilor pe care acesta îl presupune; - Realizată prin colaborare: personalul medical, pacienții și familiile acestora, precum și personalul administrativ colaborează pentru realizarea unui act medical de înaltă calitate, eficacitate și eficiență. Comunicarea adecvată cu pacienții și familiile acestora are scopul de a transmite un mesaj, dar și de a stabili o legătură cu pediatrul şi personalul medical, pornind de la valorile primordiale ale profesiei medicale - dorința de a ajuta atât la oferirea unei îngrijiri medicale de înaltă calitate, cât și la suportul moral şi psihologic oferit celor care suferă. În departamentele pediatrice, unde pacienții sunt copii, este important ca mediul și materialele utilizate să faciliteze comunicarea cu copiii, acestea fiind adaptate la înţelegerea şi nevoile lor. Pe lângă comunicarea verbală și nonverbală, în comunicarea pediatrică se pot utiliza următoarele strategii: jocurile, marionetele, păpușile, cărțile, jucăriile, imaginile și activitățile cu caracter ludic, acestea contribuind la eliberarea de stres și scăderea anxietății.
In prima faza a tratamentului, se echilibreaza prin acupunctura si apifitoterapie sistemul neuroendocrin si, implicit, sistemul imunitar. Apoi se trece la etapa de refacere a structurii si a functiei organelor invadate de tesut endometrial.
Pentru ca aceasta procedura sa fie eficienta, medicul acupunctor si/sau fitoterapeut trebuie sa cunoasca foarte bine mecanismele de evolutie ale afectiunii, pentru a putea actiona direct asupra zonei cerebrale raspunzatoare de controlul sistemului neuroendocrin si imunitar. Creierul transmite catre organele efectoare informatiile primite prin stimularea punctelor de acupunctura, cat si informatiile primite prin actiunea substantelor active din plantele medicinale administrate.
Tratamentul endometriozei in medicina traditionala include proceduri de acupunctura si alte terapii traditionale si tratament intensiv cu extracte din plante medicinale.
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 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 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.
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.
The National Alliance of People with Rare Diseases - Bulgaria (NAPRD) was officially registered in June 2007. It was created to represent people living with rare diseases and encourage the development of programs and policies to help them. NAPRD now represents people with 24 rare diseases. It advocates for issues like ensuring access to treatment and raising public awareness. Major events organized by NAPRD include celebrating European Rare Disease Day and hosting charity concerts to raise funds.
The document discusses recent developments in European policy actions around rare diseases. It summarizes that in 1999 the EU adopted an orphan drug regulation, and since then there have been ongoing efforts to improve access to treatments. These include a 2009 EU Communication and Recommendation that call for national rare disease plans in all EU countries and proposals to improve access, newborn screening, and compassionate use at the EU level. It emphasizes the need for continued action both at the national level within countries and coordinated efforts between the EU, member states, and rare disease communities.
This document discusses services for rare disease patients in Europe. It summarizes that information on rare diseases is increasingly available through national centers and websites in many European countries. Orphanet is mentioned as a central portal providing information on rare diseases and orphan drugs in 38 languages, with over 20,000 daily users. The document outlines resources available through Orphanet including a database of rare diseases and clinical trials. It also discusses the availability of diagnostic testing, research activities, and the need to improve access to information, testing, and care across Europe.
1. Prof. Dr. Maria Puiu, Universitatea de Medici nă şi Farmacie V. Babes, Timisoara Interdisciplinaritate a şi educatia continuă în abordarea bolilor rare
10. Unele boli rare s unt de gravitate extremă, altele permit o viaţă quasi-normal ă . Au expresivitate variab i l ă : s emnele clinice pentru acelaşi di agnostic p ot fi variabile de la o persoană la alta.
33. Specialisti Informatiile in genetica evolueaza extrem de rapid – EMC informarea specialiştilor implicaţi cu privire la investigatiile si tratamentul accesibil