Marfan syndrome is a genetic disorder of connective tissue that affects the heart, eyes, bones and other tissues. It is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the Ghent criteria, which looks for major and minor clinical features in different organ systems. Common signs and symptoms include elongated limbs, scoliosis, eye problems like retinal detachment, heart issues like mitral valve prolapse and aortic aneurysm, and skeletal issues like joint hypermobility and pain. While there is no cure, treatment focuses on managing heart and eye complications through medication and surgery.
Instability of the cranio-vertebral junction (CVJ)Felice D'Arco
Radiological assessment of CVJ in children. 2nd European Society for Pediatric Neurosurgery (ESPN) Hands-on Workshop on Craniovertebral Junction Surgery, Lyon, France
Forensic Anthropology* Sutures of the SkullDeepali Panwar
This topic is a part of Forensic Anthropology.
Forensic Anthropology
Sutures of the Skull
The sutures are a type of fibrous joint, found in between many of the bones that make up the skull. Today we're going to take a look at three sutures; the coronal suture, the sagittal suture and the lambdoid suture.
*There are four major sutures that connect the bones of the cranium together: the frontal or coronal, the sagittal, the lambdoid, and the squamous. The frontal suture connects the frontal bone to the two parietal bones. The sagittal suture connects the two parietal bones.
Abstract
Juvenile ossifying fibroma is an uncommon clinical entity, its aggressive local behaviour and high recurrence rate mean that it is important to make an early diagnosis, apply the appropriate treatment and, especially, follow the patient up over the long term. In the current article we report a case of juvenile ossifying fibroma-WHO type in 12yr old patient which was clinical and histopathologically challenging as it was asymptomatic and at an unusual location.
Instability of the cranio-vertebral junction (CVJ)Felice D'Arco
Radiological assessment of CVJ in children. 2nd European Society for Pediatric Neurosurgery (ESPN) Hands-on Workshop on Craniovertebral Junction Surgery, Lyon, France
Forensic Anthropology* Sutures of the SkullDeepali Panwar
This topic is a part of Forensic Anthropology.
Forensic Anthropology
Sutures of the Skull
The sutures are a type of fibrous joint, found in between many of the bones that make up the skull. Today we're going to take a look at three sutures; the coronal suture, the sagittal suture and the lambdoid suture.
*There are four major sutures that connect the bones of the cranium together: the frontal or coronal, the sagittal, the lambdoid, and the squamous. The frontal suture connects the frontal bone to the two parietal bones. The sagittal suture connects the two parietal bones.
Abstract
Juvenile ossifying fibroma is an uncommon clinical entity, its aggressive local behaviour and high recurrence rate mean that it is important to make an early diagnosis, apply the appropriate treatment and, especially, follow the patient up over the long term. In the current article we report a case of juvenile ossifying fibroma-WHO type in 12yr old patient which was clinical and histopathologically challenging as it was asymptomatic and at an unusual location.
Cardiovascular Management of
Marfan Syndrome: Implications
for Nurse Practitioners
Jonathan Yip, MN, NP, and Jo-Ann Sawatzky, PhD, RN
Readers may rec
0.17 contact hou
Association of N
the online postt
area=JNP.
The Jo594
ABSTRACT
Marfan syndrome (MFS) is a genetic disorder affecting 1 in 5,000 individuals.
The diagnosis is made using a combination of genetic testing and the revised Ghent
criteria. MFS is associated with the cardiovascular-related risks of aortic dilation and
dissection. Therefore, the main goal of medical therapy is blood pressure control using
beta-blockers and lifestyle modification. Prophylactic surgical intervention remains
the single, definitive measure in preventing dissection or rupture. Nurse practitioners
must be vigilant in caring for this population as these cardiovascular risks can be
reduced by early identification and diagnosis and timely intervention.
Keywords: aortic dilation, aortic dissection, cardiovascular complications, Marfan
syndrome
� 2014 Elsevier, Inc. All rights reserved.
arfan syndrome (MFS) is a heritable dis-
order of connective tissue. It is a relatively
Mcommon genetic disorder affecting 1
in 5,000 individuals without gender, racial, or ethnic
predilection.1-3 MFS affects multiple systems of the
body, with consequent cardiovascular-, skeletal-,
ocular-, integument-, lung-, and dural-related
symptoms.3-5 Based on earlier studies, the cause of
MFS was thought to be primarily due to the muta-
tion in the fibrillin-1 (FBN-1) gene on chromosome
15, resulting in abnormal fibrillin structure that causes
the connective tissue disorder. More recent studies
have shown that the dysfunctional transforming
growth factor (TGF)-b cytokine plays a more
critical role in extracellular matrix homeostasis or
remodeling.6-8
The diagnosis of MFS is based on both genetic
testing of FBN-1 and physical findings under the
revised Ghent criteria. Although MFS manifests in
varying degrees of severity, the most life-threatening
eive 0.79 continuing education contact hours, including
rs of pharmacology credit, approved by the American
urse Practitioners, by reading this article and completing
est and evaluation at https://cecenter.aanp.org/Program?
urnal for Nurse Practitioners - JNP
consequences include aortic dilation and dissection,
which can lead to aortic rupture and death. Hence,
it is crucial for nurse practitioners (NPs) to have
comprehensive knowledge of these complications,
as it is not uncommon for NPs to encounter MFS
patients in both acute and primary care practice.
Currently, the opportunities for early diagnosis and
the use of noninvasive serial aortic imaging, as well
as advancements in the both medical and surgical
management of MFS, have led to significant
improvement in the life expectancy of all affected
individuals.3,5 In this study we aim to provide NPs
with a comprehensive overview of MFS and offer
specific insights for the cardiovascular management
of these individuals and their families.
GENE.
Cardiovascular Management of
Marfan Syndrome: Implications
for Nurse Practitioners
Jonathan Yip, MN, NP, and Jo-Ann Sawatzky, PhD, RN
Readers may rec
0.17 contact hou
Association of N
the online postt
area=JNP.
The Jo594
ABSTRACT
Marfan syndrome (MFS) is a genetic disorder affecting 1 in 5,000 individuals.
The diagnosis is made using a combination of genetic testing and the revised Ghent
criteria. MFS is associated with the cardiovascular-related risks of aortic dilation and
dissection. Therefore, the main goal of medical therapy is blood pressure control using
beta-blockers and lifestyle modification. Prophylactic surgical intervention remains
the single, definitive measure in preventing dissection or rupture. Nurse practitioners
must be vigilant in caring for this population as these cardiovascular risks can be
reduced by early identification and diagnosis and timely intervention.
Keywords: aortic dilation, aortic dissection, cardiovascular complications, Marfan
syndrome
� 2014 Elsevier, Inc. All rights reserved.
arfan syndrome (MFS) is a heritable dis-
order of connective tissue. It is a relatively
Mcommon genetic disorder affecting 1
in 5,000 individuals without gender, racial, or ethnic
predilection.1-3 MFS affects multiple systems of the
body, with consequent cardiovascular-, skeletal-,
ocular-, integument-, lung-, and dural-related
symptoms.3-5 Based on earlier studies, the cause of
MFS was thought to be primarily due to the muta-
tion in the fibrillin-1 (FBN-1) gene on chromosome
15, resulting in abnormal fibrillin structure that causes
the connective tissue disorder. More recent studies
have shown that the dysfunctional transforming
growth factor (TGF)-b cytokine plays a more
critical role in extracellular matrix homeostasis or
remodeling.6-8
The diagnosis of MFS is based on both genetic
testing of FBN-1 and physical findings under the
revised Ghent criteria. Although MFS manifests in
varying degrees of severity, the most life-threatening
eive 0.79 continuing education contact hours, including
rs of pharmacology credit, approved by the American
urse Practitioners, by reading this article and completing
est and evaluation at https://cecenter.aanp.org/Program?
urnal for Nurse Practitioners - JNP
consequences include aortic dilation and dissection,
which can lead to aortic rupture and death. Hence,
it is crucial for nurse practitioners (NPs) to have
comprehensive knowledge of these complications,
as it is not uncommon for NPs to encounter MFS
patients in both acute and primary care practice.
Currently, the opportunities for early diagnosis and
the use of noninvasive serial aortic imaging, as well
as advancements in the both medical and surgical
management of MFS, have led to significant
improvement in the life expectancy of all affected
individuals.3,5 In this study we aim to provide NPs
with a comprehensive overview of MFS and offer
specific insights for the cardiovascular management
of these individuals and their families.
GENE ...
An overview of the 2010 Revised Ghent Nosology for Marfan Syndrome. Created to train those knowledgable of the disorder of the changes in how the disorder is diagnosed, including systemic score, z-score calculation, genetic testing, differential diagnosis, etc.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
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Marfan syndrome for orthodontist by almuzian
1. MARFAN SYNDROME
https://youtu.be/NSKgbFGqFDo
Genetic disorder of connective tissue.
autosomal dominant condition with a reported incidence of 1 in 3000 to 5000
individuals [1,2].
M=F
Autosomal dominant. 75% cases inherited and 25% new mutation.
mutations involving the gene (FBN1) encoding the connective tissue protein fibrillin-
1 [5-7].
Diagnosis is based on the Ghent criteria:
Ghent criteria
A panel of experts in Ghent, Belgium, put forth a set of guidelines in 1996
Named for the city in which they were proposed, the Ghent criteria delineate major
and minor diagnostic findings.
This combination of findings in different organ systems forms the mainstay of
diagnosis.
The main criteria for diagnosis consist of clinical features that are typical of the
syndrome and rarely occur in the general population. These include long limbs,
scoliosis, pectus carinatum, pectus excavatum, ectopia lentis, dilatation and/or
dissection of ascending aorta, aortic regurgitation, and dural ectasias.
Minor criteria are present in individuals with the syndrome and often are seen in the
general population. These include joint hypermobility, high palate, dolichocephaly,
retrognathia, flat cornea, mitral valve prolapse, dilatation or dissection of the thoracic
aorta, spontaneous pneumothorax, and recurrent hernias.
In the presence of a nonsignificant family history, major criteria in at least two
different organ systems and involvement of a third system are required. However, if
evidence of a genetic mutation in the family is found, then one major criterion in an
organ system and involvement of a second system are sufficient to establish a
diagnosis of Marfan syndrome.
2. Signs and Symptoms
1. Skeletal
Elongated head with cerebral bosselation.
Tall and thin person
Long arms and legs and fingers and toes.
Flexible joints and scoliosis.
Early osteoarthritis can occur
Joint, bone and muscle pains.
2. Cardiac
3. Heart and aorta with increased risk of mitral valve prolapse and aortic aneurysm.
Pectus carinatum
3. Eye
Retinal detachment in the eye and also cataracts.
4. Jaw
Sleep apnoea.
downslanting palpebral fissures
malar hypoplasia,
High palate
Retrognathia,
Big overjets,
Posterior crossbites,
AOB
Crowding.
Treatment:
no cure.
Most people have a normal life with proper treatment.
Mainly beta blockers (e.g. propanolol) or calcium channel blockers or ACE inhibitors.
Surgery may be needed on heart valves.
Must keep exercise/stress levels low e.g. play bowling/golf
4. Genetic testing: First-degree relatives of patients with a gene mutation associated with
aortic aneurysms and/or dissection (eg, FBN1, TGFBR1, TGFBR2, COL3A1,
ACTA2, MYH11) should undergo counseling and genetic testing.
Orthodontic:
Need for good oral hygiene
Need for prophylactic antibiotics prescribed before banding.
High risk of OIIRR
High risk of relapse orthodontic (fibrillin) and surgically,
High risk of condylar resorption
Need orthognathic surgery or SARPE
Monitoringgrowth:
Cephs
Standingheight
Photos/studymodelstomonitorchangesinAOB
C spine maturation- Baccetti