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Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13, and 18
Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy, by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to three trisomies, trisomy twenty-one known as Down syndrome, trisomy eighteen known as Edwards Syndrome, and trisomy thirteen known as Patau Syndrome.
Format: Articles
Subject: Technologies
Irving Freiler Stein Sr. (1887–1976)
Irving Freiler Stein Sr. was a physician who studied women’s reproductive health during the twentieth century in the United States. In partnership with his colleague, Michael Leventhal, Stein identified a women’s reproductive disorder related to elevated male sex hormones, or androgens. The syndrome was originally called Stein-Leventhal syndrome and later known as polycystic ovarian syndrome. While studying the syndrome, Stein also helped establish a treatment for the condition, through the surgical removal of ovarian tissues.
Format: Articles
Subject: People
Jerold Lucey (1926– )
Jerold Lucey studied newborn infants in the United States in the twentieth century. In the 1960s and 1970s, Lucey studied phototherapy as a treatment for jaundice, a condition in infants whose livers cannot excrete broken down red blood cells, called bilirubin, into the bloodstream at a fast enough rate. In addition to his work in jaundice, Lucey was the editor in chief for the journal Pediatrics of the American Academy of Pediatrics.
Format: Articles
Subject: People
William Thornton Mustard (1914-1987)
William Thornton Mustard was a surgeon in Canada during the twentieth century who developed surgical techniques to treat children who had congenital heart defects. Mustard has two surgeries named after him, both of which he helped to develop. The first of these surgeries replaces damaged or paralyzed muscles in individuals who have polio, a virus that can cause paralysis. The other technique corrects a condition called the transposition of the great arteries (TGA) that is noticed at birth.
Format: Articles
Thesis: The Genesis of Premenstrual Syndrome (PMS)
This is a project about medicine and the history of a condition called premenstrual syndrome (PMS), its “discovery” and conceptual development at both scientific and socio-cultural levels. Since it was first mentioned in medical literature, PMS has been explored empirically as a medical condition and conceptually as a non-somatic cultural phenomenon. Many attempts have been made to produce scientific, empirical evidence to bolster the theory of PMS as a biological disease.
Format: Essays and Theses
Subject: Reproduction
Treatment of Pelvic Organ Prolapse in Women
Pelvic organ prolapse is a common condition in women that causes the pelvic organs to descend, often resulting from a weakened pelvic floor. Pelvic organs supported by the pelvic floor, such as the bladder, bowel, or uterus, can descend to such a degree that they project out from a woman’s body typically via the vagina. Pelvic floor stress or trauma, like vaginal childbirth, can cause pelvic organ prolapse. Women with pelvic organ prolapse also often experience other conditions, such as incontinence or the involuntary leakage of urine or fecal matter.
Format: Articles
Subject: Reproduction, Disorders, Processes
Trisomy 21 (Down Syndrome)
As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease.
Format: Articles
Subject: Reproduction, Disorders, Ethics
The Mustard Operation
The Mustard Operation is a surgical technique to correct a heart condition called the transposition of the great arteries (TGA). TGA is a birth defect in which the placement of the two arteries, the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body are switched. William Thornton Mustard developed the operation later named for him and in 1963 operated on an infant with TGA, and ameliorated the condition, at the Hospital for Sick Children in Toronto, Canada.
Format: Articles
Subject: Technologies, Disorders
Warren Tay (1843–1927)
The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed.
Format: Articles
Subject: Technologies
"The Environment and Disease: Association or Causation?" (1965), by Austin Bradford Hill
In 1965, Austin Bradford Hill published the article “The Environment and Disease: Association or Causation?” in the Proceedings of the Royal Society of Medicine. In the article, Hill describes nine criteria to determine if an environmental factor, especially a condition or hazard in a work environment, causes an illness. The article arose from an inaugural presidential address Hill gave at the 1965 meeting of the Section of Occupational Medicine of the Royal Society of Medicine in London, England.
Format: Articles
Subject: Publications
Gestational Diabetes
Gestational diabetes is a medical condition that causes blood sugar levels to become abnormally high, which manifests for the first-time during pregnancy and typically disappears immediately after birth for around ninety percent of affected women. While many women with the condition do not experience any noticeable symptoms, some may experience increased thirst and urination.
Format: Articles
Subject: Reproduction, Disorders
Transposition of the Great Arteries (TGA)
Transposition of the great arteries or TGA is a potentially fatal congenital heart malformation where the pulmonary artery and the aorta are switched. The switch means that the aorta, which normally carries oxygenated blood, carries deoxygenated blood. There are two types of the malformation, d-TGA where no oxygen reaches the body and l-TGA where some oxygenated blood circulates. In the US, the Centers for Disease Control estimate that about 1,901 infants are born each year with TGA, or about one for every 2,000 births.
Format: Articles
Subject: Disorders
The Arterial Switch Operation (1954-1975)
The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed.
Format: Articles
Subject: Technologies
"Veterans and Agent Orange Update 1996: Summary and Research Highlights" by the US National Academy of Sciences' Institute of Medicine
In March 1996, the National Academy of Sciences of the United States released 'Veterans and Agent Orange Update 1996: Summary and Research Highlights,' which summarized research on the health effects of Agent Orange and other herbicides used in the Vietnam War. In their 1996 report, the National Academy connects Agent Orange exposure with two health conditions: spina bifida, a birth defect that occurs when the spinal cord develops improperly, and peripheral neuropathy, a nervous system condition in which the peripheral nerves are damaged.
Format: Articles
Subject: Publications
Thesis: Socioeconomic and Cultural Ideas of Endometriosis in Low and Middle-Income Countries: A Narrative Literature Review
Endometriosis is a condition characterized by the growth of the endometrium, or the tissue that lines the uterus, outside of the uterus, and it is diagnosed through the presence of endometriotic lesions in the pelvic region. The disease is most often associated with abnormal and painful vaginal bleeding.
Format: Essays and Theses
"A Series of Normal Stages in the Development of the Chick Embryo" (1951), by Viktor Hamburger and Howard L. Hamilton
The developmental stages of the chick embryo were examined by Viktor Hamburger and Howard L. Hamilton in "A Series of Normal Stages in the Development of the Chick Embryo," published in the Journal of Morphology in 1951. These stages were published to standardize the development of the chick based on varying laboratory conditions and genetic differences. The stages Hamburger and Hamilton assigned were determined by the visible features of the chick embryo.
Format: Articles
Subject: Experiments
Anencephaly
Anencephaly is an open neural tube defect, meaning that part of the neural tube does not properly close or that it has reopened during early embryogenesis. An embryo with anencephaly develops without the top of the skull, but retains a partial skull, including the face. Anencephaly is one of the most common birth defects of the neural tube, occurring at a rate of approximately one in one thousand human pregnancies. The condition can be caused by environmental exposure to chemicals, dietary deficiencies, or genetic mutations.
Format: Articles
Subject: Disorders, Reproduction
Serial Cultivation of Human Diploid Cells in the Lab (1958–1961) by Leonard Hayflick and Paul S. Moorhead
From 1958 to 1961, Leonard Hayflick and Paul Moorhead in the US developed a way in the laboratory to cultivate strains of human cells with complete sets of chromosomes. Previously, scientists could not sustain cell cultures with cells that had two complete sets of chromosomes like normal human cells (diploid). As a result, scientists struggled to study human cell biology because there was not a reliable source of cells that represented diploid human cells. In their experiments, Hayflick and Moorhead created lasting strains of human cells that retained both complete sets of chromosomes.
Format: Articles
Subject: Experiments
John Langdon Down (1828–1896)
John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes.
Format: Articles
Subject: People
Jérôme Lejeune (1926−1994)
Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome. Down Syndrome is a condition present in an individual since birth and is characterized by physical and developmental anomalies such as small ears, a short neck, heart defects, and short height as children and adults.
Format: Articles
Subject: People
The Shettles Method of Sex Selection
In the 1960s in the United States Landrum B. Shettles developed the Shettles method, which is a procedure for couples to use prior to and during an intercourse to increase their chances of conceiving a fetus of their desired sex. Shettles, a physician, who specialized in obstetrics and gynecology, found a difference in the size and shape of male sperm cells that he correlated with the different sex chromosomes they carry.
Format: Articles
Subject: Technologies, Reproduction
Oral Glucose Tolerance Test for Gestational Diabetes
In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019.
Format: Articles
Subject: Technologies, Reproduction, Experiments
VACTERL Association
VACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. "VACTERL" is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects.
Format: Articles
Subject: Disorders
Bernard Rimland (1928-2006)
Bernard Rimland studied autism in children in the United States in the second half of the twentieth century. His early research in the 1950s and into the 1960s led him to assert that infantile autism was a neurodevelopmental disorder, or one that is caused by impairments in the growth and development of the brain or central nervous system. Rimland's assertion that infantile autism was a neurodevelopmental disorder contradicted another theory at that time that the condition resulted from emotionally cold parenting.
Format: Articles
Subject: People
“Consensus on the Current Management of Endometriosis” (2013), by Neil P. Johnson and Lone Hummelshoj
“Consensus on the Current Management of Endometriosis”, henceforth “Consensus”, was written by the World Endometriosis Society, or WES, president Neil P. Johnson and chief executive Lone Hummelshoj and published in 2013 in Human Reproduction. “Consensus” makes recommendations about managing endometriosis for women and healthcare professionals. Endometriosis is a condition where endometrium, the tissue that usually lines the uterus, grows outside of the uterus and is characterized by painful periods, heavy menstrual bleeding, and infertility.
Format: Articles
Subject: Publications