|Angelo M. DiGeorge|
Angelo DiGeorge (right) and Robert Shprintzen at the "Deletion 22q11" Meeting in Rome in 2002
|Born||April 15, 1921|
|Died|| October 11, 2009 88) (aged|
|Alma mater||Temple University|
|Employer||Temple University School of Medicine|
|Known for||Discovery of DiGeorge syndrome|
|Title||President, Lawson Wilkins Pediatric Endocrine Society|
Angelo M. DiGeorge(April 15, 1921 – October 11, 2009) was an Italian American physician and pediatric endocrinologist who is renowned for his research on an autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.
A physician, medical practitioner, medical doctor, or simply doctor is a professional who practises medicine, which is concerned with promoting, maintaining, or restoring health through the study, diagnosis, prognosis and treatment of disease, injury, and other physical and mental impairments. Physicians may focus their practice on certain disease categories, types of patients and methods of treatment—known as specialities—or they may assume responsibility for the provision of continuing and comprehensive medical care to individuals, families, and communities—known as general practice. Medical practice properly requires both a detailed knowledge of the academic disciplines underlying diseases and their treatment—the science of medicine—and also a decent competence in its applied practice—the art or craft of medicine.
Immunodeficiency is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. Most cases of immunodeficiency are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection, extremes of age, and environmental factors, such as nutrition. In the clinical setting, the immunosuppression by some drugs, such as steroids, can be either an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti-rejection measure and in patients suffering from an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised person may be particularly vulnerable to opportunistic infections, in addition to normal infections that could affect everyone. Immunodeficiency also decreases cancer immunosurveillance, in which the immune system scans the body's cells and kills neoplastic ones.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can be variable, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves disease.
DiGeorge was the son of two Italian immigrants, Antonio DiGiorgio and his wife Emilia (née Taraborelli). He was born in South Philadelphia on April 15, 1921. His teacher at primary school changed his Italian surname DiGiorgio into the "American" DiGeorge.He graduated at the top of his class from South Philadelphia High School for Boys in 1939 and was awarded the competitive White Williams Scholarship at the Temple University, where he graduated with distinction in chemistry in 1943. DiGeorge received his medical degree with honors from Temple University School of Medicine in 1946, and completed his internship at Temple University Hospital. He then left Philadelphia from 1947 to 1949 to serve as Captain and Chief of the Medical Service for the U.S. Army 124th Station Hospital in Linz, Austria. After returning to Philadelphia, Angelo met his future wife, Natalie Picarello, who was a registered nurse at Temple Hospital. He completed his pediatric residency at St. Christopher's Hospital for Children and did a postdoctoral fellowship in endocrinology at the Jefferson Medical College in 1954.
South Philadelphia, nicknamed South Philly, is the section of Philadelphia bounded by South Street to the north, the Delaware River to the east and south, and the Schuylkill River to the west. A diverse community, South Philadelphia is especially known for its large Italian American population, but also contains large Irish American and African American populations.
South Philadelphia High School is a public secondary high school located in the south section of Philadelphia, at the intersection of Broad Street and Snyder Avenue, just north of the South Philadelphia Sports Complex residential neighborhood, Marconi Plaza, Franklin Delano Roosevelt Park, Philadelphia Naval Shipyard and near the Passyunk Avenue urban corridor of shops and restaurants.
Temple University is a state-related research university located in Philadelphia, Pennsylvania. It was founded in 1884 by Baptist Minister Russell Conwell. In 1882, Conwell came to Pennsylvania to lead the Grace Baptist Church while he began tutoring working class citizens late at night to accommodate their work schedules. These students, later dubbed "night owls", were taught in the basement of Conwell's Baptist Temple, hence the origin of the university's name and mascot. By 1907, the institution revised its institutional status and was incorporated as a university.
DiGeorge joined the Department of Pediatrics of Temple University School of Medicine in 1952. In 1967, he became a Professor of Pediatrics and an Emeritus Professor in 1991. Concurrently, he was also an attending physician at St. Christopher's, where he became the Chief of Endocrinology and Metabolism (1961–1989), and the Director of the Pediatric Clinical Research Center (1965–1982). He served on the Pediatric Endocrinology Subboard of the American Board of Pediatrics from 1987 until 1992. He was a founding member and past president (1983–1984) of the Lawson-Wilkins Pediatric Endocrine Society and was the primary author of the endocrinology chapter for the Nelson Textbook of Pediatrics,known by pediatricians around the world as the "Green Bible" for more than 40 years.
The American Board of Pediatrics (ABP) was founded in 1933. It is one of the 24 certifying boards of the American Board of Medical Specialties (ABMS). The ABP is an independent and nonprofit organization.
DiGeorge first gained international recognition in the mid-1960s for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect is now referred to as DiGeorge syndrome; alternate names include Velocardiofacial syndrome, Shprintzen Syndrome, and chromosome 22q11.2 deletion syndrome (the majority of affected individuals lack a distinct part of the long arm of chromosome 22). DiGeorge syndrome includes a pattern of more than 200 different defects, including hypoplastic thymus and parathyroid glands, conotruncal heart defects, and a characteristic facial appearance. Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial anomalies, and learning difficulties. It is now accepted that these two syndromes represent the different expression of a unique disorder manifesting at different stages of life. DiGeorge Syndrome is one of the most common genetic disorders known, occurring in about one every 4,000 livebirths. DiGeorge's original 1965 reportand the initial paper reporting on this anomaly have been widely quoted and continues to garner citations.
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.
The thymus is a specialized primary lymphoid organ of the immune system. Within the thymus, T cells mature. T cells are critical to the adaptive immune system, where the body adapts specifically to foreign invaders. The thymus is composed of two identical lobes and is located anatomically in the anterior superior mediastinum, in front of the heart and behind the sternum. Histologically, each lobe of the thymus can be divided into a central medulla and a peripheral cortex which is surrounded by an outer capsule. The cortex and medulla play different roles in the development of T cells. Cells in the thymus can be divided into thymic stromal cells and cells of hematopoietic origin. Developing T cells are referred to as thymocytes and are of hematopoietic origin. Stromal cells include epithelial cells of the thymic cortex and medulla, and dendritic cells.
Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods that produce parathyroid hormone. Humans usually have four parathyroid glands, variably located on the back of the thyroid gland. Parathyroid hormone and calcitonin have key roles in regulating the amount of calcium in the blood and within the bones.
On a personal level, he was describedas a compassionate physician who viewed the patient as a whole person, a superb diagnostician, a keen observer, a great teacher, a masterful lecturer, an absorbing storyteller, an avid reader, a literary writer, and above all, a kind-hearted, fair-minded person. In addition to medicine, he had many other hobbies, including gardening, all of the performing arts, politics, stamp collecting, and Philadelphia sports, especially the Phillies. Dr. DiGeorge loved all things "Philly" and all things Italian. He first learned the art of debate on the debate team at South Philadelphia High School for Boys and he gladly engaged in animated debates on virtually any topic from sports to politics with his professional colleagues and at the family dinner table throughout his life. Dr Angelo DiGeorge was often invited to Italian scientific meetings, including the San Giovanni Rotondo Medical Genetic School and the Rome "Deletion 22q11" Meeting in 2002. It Rome, Angelo DiGeorge and Bob Shprintzen, the fathers of a unique disorder, met for the first time (see photo), although they had long been working on the same syndrome, living close to one another in the United States.
Gardening is the practice of growing and cultivating plants as part of horticulture. In gardens, ornamental plants are often grown for their flowers, foliage, or overall appearance; useful plants, such as root vegetables, leaf vegetables, fruits, and herbs, are grown for consumption, for use as dyes, or for medicinal or cosmetic use. Gardening is considered by many people to be a relaxing activity.
Performing arts are a form of art in which artists use their voices, bodies or inanimate objects to convey artistic expression. It is different from visual arts, which is when artists use paint, canvas or various materials to create physical or static art objects. Performing arts include a range of disciplines which are performed in front of a live audience.
Politics refers to a set of activities associated with the governance of a country, or an area. It involves making decisions that apply to members of a group.
DiGeorge died at the age of 88 years, on October 11, 2009, of kidney failure at his home in East Falls, Philadelphia.
East Falls is a neighborhood in the Northwest section of Philadelphia, Pennsylvania, United States on the east or left bank side of the now submerged Schuylkill River cataracts, the 'Falls of the Schuylkill' that became submerged as the Schuylkill Canal and Fairmount Water Works projects were completed in 1822. The East Falls community is located adjacent to Germantown, Roxborough, Allegheny West, and Nicetown-Tioga neighborhoods. East Falls is also adjacent to Wissahickon Valley Park. The neighborhood runs along a stretch of Ridge Avenue that is only a few miles long, along the banks of the Schuylkill River then extends northeast to Wissahickon Avenue. East Falls overlooks the multi-use recreational path of Fairmount Park along Kelly Drive, and is desirable for its central location, an easy commute to Center City, with easy access to several major roadways and public transportation. East Falls continues to develop, with new housing, retail space and recreation centers in production. It features three streets in proximity with the word "Queen" in them, two train stations, a number of bars and restaurants, and illustrious mansions as well as some recently renovated housing that continues to increase in value.
Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms at birth may vary from none to severe. Later there is typically episodes of bluish color to the skin. When affected babies cry or have a bowel movement, they may develop a "tet spell" where they turn very blue, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart murmur, finger clubbing, and easy tiring upon breastfeeding.
Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn babies has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life.
The year 1968 in science and technology involved some significant events, listed below.
Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 16. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.
Neonatology is a subspecialty of pediatrics that consists of the medical care of newborn infants, especially the ill or premature newborn. It is a hospital-based specialty, and is usually practiced in neonatal intensive care units (NICUs). The principal patients of neonatologists are newborn infants who are ill or require special medical care due to prematurity, low birth weight, intrauterine growth restriction, congenital malformations, sepsis, pulmonary hypoplasia or birth asphyxia.
Zvi Laron is an Israeli paediatric endocrinologist, born in Cernăuţi, Romania, a professor emeritus at Tel Aviv University. In 1966, he described the type of dwarfism later called Laron syndrome. His research opened the way to the treatment of many cases of growth hormone disorders. He was the first to introduce the multidisciplinary treatment for juvenile diabetes.
The VACTERL association refers to a recognized group of birth defects which tend to co-occur. Note that this pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
Neurodevelopmental disorder is a mental disorder. A narrower use of the term refers to a disorder of brain function which affects emotion, learning ability, self-control and memory and which unfolds as the individual grows. Neurodevelopmental disorders tend to last for a persons entire lifetime.
Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides, thus, DNA replication is inhibited.
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. There are many kinds of disorders associated with Trisomy 22:
George P. Chrousos is professor of Pediatrics and Endocrinology Emeritus and former chairman of the Department of Pediatrics at the Athens University Medical School, Greece. Earlier he was senior investigator, director of the Pediatric Endocrinology Section and Training Program, and chief of the Pediatric and Reproductive Endocrinology Branch of the National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). He is also clinical professor of Pediatrics, Physiology and Biophysics at Georgetown University Medical School and distinguished visiting scientist, NICHD, NIH. Dr. Chrousos was the first general director of the Foundation of Biomedical Research of the Academy of Athens (2001–2002). He holds the UNESCO Chair on Adolescent Health Care, while he held the 2011 John Kluge Chair in Technology and Society, Library of Congress, Washington, D.C.
Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.
Amin J. Barakat is a Lebanese-American physician known for the diagnosis Barakat syndrome.
Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.
Andrea Prader was a Swiss scientist, physician, and pediatric endocrinologist. He co-discovered the Prader-Willi syndrome and created two physiological sex development scales, the Prader scale and the Orchidometer.
Maria Iandolo New is a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City. She is an expert in congenital adrenal hyperplasia (CAH), a genetic condition affecting the adrenal gland that can affect sexual development.
Catherine Annie Neill was a British paediatric cardiologist who spent the majority of her career at the Johns Hopkins Hospital in Baltimore, where she worked alongside Helen B. Taussig. Her primary interest was congenital heart defects; she discovered one type of defect, scimitar syndrome, in 1960.
Claude Jean Migeon was a French pediatric endocrinologist who spent the majority of his career at the Johns Hopkins Hospital.