The document provides a historical overview of the development of congenital heart disease (CHD) diagnosis and treatment from the late 19th century to present day. Some key milestones mentioned include the first closure of a stab wound in the right ventricle in 1896, the first cardiac catheterization in 1929, the development of pediatric cardiology as a field in the 1940s, and the first successful open-heart surgery using hypothermia and cross-circulation in 1954. The document also summarizes advances in imaging technologies, surgical techniques, and management of CHD over time that have improved outcomes and survival rates.
The lecture is for medical student. It is from Dr RUSINGIZA Emmanuel, MD, senior lecture at UR( UNIVERSITY OF RWANDA) .
It will help to understand heart diseases in newborn, infants and children.
congenital heart disease & rheumatic heart disease including their dental and medical management (sources:davidson's principles and practice of medicine 21st edition and american heart association)
Acyanotic Congenital Heart Diseases;
1. Left-to-right shunts
a. Ventricular Septal Defect(VSD)
b. Atrial Septal Defect(ASD)
c. Patent Ductus Arteriosus(PDA)
d. Atrioventricular Septal Defect(AVSD)
e. Aortopulmonary window
* Eisenmenger Syndrome – The shunt becomes right-to-left
2. Left-sided obstructive lesions
a. Coarctation of the Aorta(COA)
b. Congenital Aortic Stenosis
c. Mitral Stenosis
d. Interrupted Aortic Arch
Cyanotic Congenital Heart Diseases;
1. Right-to-left shunts
a. Tetralogy of Fallot
b. Pulmonary stenosis
c. Pulmonary atresia
d. Tricuspid atresia
e. Ebstein’s anomaly
2. Complete mixed lesions
a. Transposition of the great vessels
b. Double outlet right ventricle(DORV)
c. Total anomalous pulmonary venous return
d. Truncus arteriosus
e. Hypoplastic left heart syndrome
The lecture is for medical student. It is from Dr RUSINGIZA Emmanuel, MD, senior lecture at UR( UNIVERSITY OF RWANDA) .
It will help to understand heart diseases in newborn, infants and children.
congenital heart disease & rheumatic heart disease including their dental and medical management (sources:davidson's principles and practice of medicine 21st edition and american heart association)
Acyanotic Congenital Heart Diseases;
1. Left-to-right shunts
a. Ventricular Septal Defect(VSD)
b. Atrial Septal Defect(ASD)
c. Patent Ductus Arteriosus(PDA)
d. Atrioventricular Septal Defect(AVSD)
e. Aortopulmonary window
* Eisenmenger Syndrome – The shunt becomes right-to-left
2. Left-sided obstructive lesions
a. Coarctation of the Aorta(COA)
b. Congenital Aortic Stenosis
c. Mitral Stenosis
d. Interrupted Aortic Arch
Cyanotic Congenital Heart Diseases;
1. Right-to-left shunts
a. Tetralogy of Fallot
b. Pulmonary stenosis
c. Pulmonary atresia
d. Tricuspid atresia
e. Ebstein’s anomaly
2. Complete mixed lesions
a. Transposition of the great vessels
b. Double outlet right ventricle(DORV)
c. Total anomalous pulmonary venous return
d. Truncus arteriosus
e. Hypoplastic left heart syndrome
This is a chapter from Grainger and Allison. I have Coolected all images from chapter 20 with caption in this presentation.
In my opinion it will be very benificial to have this in your android. ,
USMLE CVS 008 Fetal and regional circulation anatomy .pdfAHMED ASHOUR
Fetal circulation and regional circulation refer to the distinct patterns of blood flow in the developing fetus and the circulatory pathways within different regions of the body.
Understanding these circulation patterns is crucial for comprehending the physiological adaptations that occur during fetal development and in the various regions of the body after birth.
After birth, the circulatory system undergoes significant changes, such as closure of the foramen ovale and ductus arteriosus, leading to the establishment of the adult circulatory pattern.
Transposition of the great arteries is a serious but rare heart defect present at birth (congenital), in which the two main arteries leaving the heart are reversed (transposed). The condition is also called dextro-transposition of the great arteries.
Drs. Escobar, Pikus, and Blackwell’s CMC X-Ray Mastery Project: January CasesSean M. Fox
Drs. Daniel Escobar, Angela Pikus, and Alex Blackwell are Emergency Medicine Residents and interested in medical education. Lauren Ramsey, PA-C works with the Sanger Heart & Vascular Institute. With the guidance of Dr. Michael Gibbs, a notable Professor of Emergency Medicine, they aim to help augment our understanding of emergent imaging. Follow along with the EMGuideWire.com team as they post these educational, self-guided radiology slides. This set will cover:
- Atrial Myxoma
- Cardiac Lymphoma
- Small Cell Lung Cancer
- Metastatic Cervical Squamous Carcinoma
- Spontaneous Pneumothorax
Seminar on critical Congenital heart disease Dr Habibur Rahim | Dr Faria YasminDr. Habibur Rahim
Seminar on critical Congenital heart disease Dr Habibur Rahim | Dr Faria Yasmin
Duct-dependent systemic circulations
Critical aortic stenosis
Coarctation of the aorta
Interruption of aortic arch
Hypoplastic left heart syndrome
Duct-dependent pulmonary circulations
Pulmonary atresia Critical pulmonary stenosis
Tricuspid atresia
Tetralogy of Fallot
Ebstein’s anomaly
Parallel non-mixing circulation
Transposition of great arteries
Other
Total anomalous pulmonary venous connection (TAPVC)
Double outlet right ventricle
Single ventricle
Truncus arteriosus
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
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.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
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
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
2. Scientific medicine begins one of the most gifted pupils of Fabricius (1578-1657), to form the general picture of what we today call the circulation of the blood. But even he had no clear idea of the circulation in the region of the capillaries. William Harvey
3. Prof. Dr. Ludwig Rehn 1896 closure of a stab would in the right ventricle in Frankfurt am Main by Prof. Dr. Ludwig Rehn. Patient developed empyema but eventually survived.
4. Ferdinand Sauerbruch (1875-1951) A negative-pressure chamber enabling the safe opening of the chest while conducting a pneumothorax was deviced After series of test on animals, on October 1, 1903
5.
6. Cardiac Catheterization Werner Forssmann August 29 , 1904 – June 1 , 1979 ) First Cardiac Catheterization in 1929 received The Nobel Prize in Medicine 1956
7.
8. ( 1898 - 1986 ) was an American cardiologist , working in Baltimore and Boston, who founded the field of pediatric cardiology. Notably, she helped develop the Blalock-Taussig shunt in cooperation with Dr. Alfred Blalock and Vivien Thomas , to treat blue baby syndrome Helen Brooke Taussig, M.D.
9. the book- Congenital Malformations of the Heart in 1947 Blalock-Taussig shunt , first performed on an 11-month old baby girl on November 29,1944.
10. In 1959, she was one of the first women to be awarded a full professorship at Johns Hopkins University
14. First successful surgical repair of the heart on September 2 , 1952 by under hypothermia performed surgeries using cross-circulation, in which to take up the pumping and oxygenation functions of the patient as he was being operated on March 26 , 1954 Walton Lillehei ( 1918 – 1999 )
40. To compare circulation between prior and after birth 返回 A : fetal period B : after birth Gas exchange by matrix systemic circulation Gas exchange by pulmonary circulation Blood oxygen content : Mixing or upper: heart /brain ﹥ lower body Separation of the venous and arterial blood PFO/PDA/PDV Close The same pressure of the aterail and pulmonary High pulmonary resistance The lower of the pulmonary pressure and resistance The burden of the right ventricle higher The burden of the left ventricle higher A B
48. Knee-chest Position Child with a cyanotic heart defect squats (assumes a knee-chest position) to relieve cyanotic spells. Some times called “tet” spells. Ball & Bindler Nurse puts infant in knee-chest position. Whaley & Wong
William Harvey (1578-1657) : De motu cordis et sangunis 1628 William Harvey, one of the most gifted pupils of Fabricius (1578-1657), combined all these individual findings with the results of his own research to form the general picture of what we today call the circulation of the blood. But even he had no clear idea of the circulation in the region of the capillaries. This section was explained and described for the first time by Malpighi in 1661, after he had viewed a frog's lung under a microscope. In any event, it is the year 1628, in which Harvey published his classic work De motu cordis et sangunis, that we can call the birth-year of cardiology.
1896 closure of a stab would in the right ventricle in Frankfurt am Main by Prof. Dr. Ludwig Rehn. Patient developed empyema but eventually survived.
(Johann von Mikulicz,in) 1903 assigned Ferdinand Sauerbruch (1875-1951) to work on open chest surgery, negative pressure chamber Sauerbruch on October 1, 1903 came to Johannes von Mikulicz-Radecki (1850-1905) in the university surgical clinic at Breslau. As an ambulant physician (Volont ä rarzt) Sauerbruch here conducted his first attempts at thoracic surgery and started to work on his most important invention: a negative-pressure chamber enabling the safe opening of the chest while conducting a pneumothorax. After series of test on animals, Sauerbruch proudly presented his contraption to Mikulicz-Radecki – but the experiment misfired. Mikulicz-Radecki felt insulted and dismissed Sauerbruch from his clinic. Sauerbruch continued his experiments at a private clinic and eventually won the acceptance of Mikulicz-Radecki. Together they presented the under-pressure apparatus at the surgical congress in Berlin. The first operation conducted on a human failed, however, but subsequently thoracical surgery using the under-pressure chamber advanced rapidly. On June 8, 1905 Sauerbruch was habilitated with the thesis Experimentelles zur Chirurgie des Brustteils der Speisr ö hre. Only six days later he attended the funeral of his teacher Mikulicz-Radecki.
Helen Brooke Taussig , M.D. , ( 1898 - 1986 ) was an American cardiologist , working in Baltimore and Boston, who founded the field of pediatric cardiology. Notably, she helped develop the Blalock-Taussig shunt in cooperation with Dr. Alfred Blalock and Vivien Thomas , to treat blue baby syndrome Blalock-Taussig shunt , first performed by Taussig and Dr. Alfred Blalock on an 11-month old baby girl on November 29,1944. Taussig wrote the book Congenital Malformations of the Heart in 1947 In 1959, she was one of the first women to be awarded a full professorship at Johns Hopkins University
First successful surgical repair of the heart on September 2 , 1952 by Walton Lillehei ( 1918 – 1999 ) under hypothermia Lillehei performed surgeries using cross-circulation, in which a donor was hooked up nearby to take up the pumping and oxygenation functions of the patient as he was being operated on. Using this technique, Lillehei led the team that performed successful repair of a ventricular septal defect on March 26 , 1954 . Although the repair was successful, the patient, 13-month old Gregory Glidden, died 11 days later of suspected pneumonia. Lillehei and his team continued to use cross-circulation for a total of 44 open-heart operations in the following year, of which 32 patients survived. These surgeries included the first repairs of the and tetralogy of Fallot . Working with Dr. Richard A. DeWall, Dr. Lillehei developed the first clinically successful bubble oxygenator which supplanted the use of cross-circulation in 1955 . The availability of the simple Lillehei-DeWall oxygenator allowed for tremendous growth of open heart surgical programs the world over. (With Gibbon ’ s HLM on May 6, 1953, surgery using the heart-lung machine was successfully performed on the first human, 18-year-old Cecilia Bavolek, to close a hole between her upper heart chambers. Gibbon ’ s bypass machine was first employed at the Mayo Clinic on a five year old girl on March 23, 1955. Dr. Kirklin was the cardiac surgeon.) In 1958 , Lillehei was responsible for the world's first use of a small, external, portable, battery-powered pacemaker , invented at his behest by Earl Bakken (whose then-small company, Medtronic , designed and repaired electronics for the University of Minnesota hospital). Lillehei also developed and implanted the world's first prosthetic heart valves : the Lillehei-Nakib toroidal disc ( 1966 ), the Lillehei-Kaster pivoting disc (1967), and the Kalke-Lillehei rigid bileaflet prosthesis ( 1968 ).
Jacqueline Noonan (1921-) Genetics of Noonan syndrome Noonan syndrome was recognized early on as an autosomal dominantly inherited disorder, but the majority of cases appeared to be sporadic. Dr. Allanson in 1985 (24) made the important observation that the phenotype of Noonan syndrome changes significantly over time. She found if photographs of parents taken at the same age as their affected child and compared they would frequently suggest one of the parents also had Noonan syndrome. As is common in autosomal dominantly inherited disorders, there is often great variability in expression and mild cases may go unrecognized. In 1994 Jamison et. al (25) studied some familial cases of Noonan syndrome and were able to map the gene for Noonan syndrome to the long arm of chromosome 12. Not all families with Noonan syndrome showed linkage to this chromosome suggesting that there was more than one genetic cause for Noonan syndrome. Recently, using new information provided by the human genome project, the group headed by Dr. Bruce Gelb (26), identified the Noonan syndrome gene on chromosome 12. This gene is called PTPN-11 and regulates the product of a protein named SHP-2. This is a protein essential in several intracellular single transduction pathways that control a number of developmental processes including cardiac semilunar valvular genesis. Valvular pulmonary stenosis with a dysplastic pulmonary valve is the most common lesion found in Noonan syndrome. This suggested that the PTPN-11 gene would be a likely candidate since mice with a mutated gene often had aortic and pulmonary stenosis. Patient studies included two moderate size families who had shown linkage to chromosome 12. All affected members showed missence mutations in the PTPN-11 gene. An additional 22 unrelated individuals with Noonan syndrome representing sporadic or small families were also studied. Half of these had missence mutations in PTPN-11 similar to the family studies. A more recent report (27) now includes studies in 119 individuals with Noonan syndrome. 54 of the 119 or 45% were demonstrated to have mutations. There was a higher prevalence of mutations in familial cases than in sporadic. Among those patients with Noonan syndrome and pulmonary valve stenosis, PTPN-11 mutations were found in 70.6% while those with Noonan syndrome and hypertrophic cardiomyopathy showed a lower incidence of 5.9%. In the not too distant future, it should be possible to screen for PTPN-11 in other Noonan syndrome like conditions such as Cardio-facio-cutaneous, Leopard and Noonan-neurofibromatosis syndromes. It is also likely that in the future linkage studies in other families with Noonan syndrome will map to a specific chromosome and other genes will be identified that are responsible for those cases of Noonan syndrome not due to a mutation of the PTPN-11 gene. For the first time, there is hope that a genetic test will be available to make a firm diagnosis of Noonan syndrome. Up to the present time the diagnosis relies on clinical findings alone.