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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 Familial Factor in Toxemia of Pregnancy" (1968), by Leon C. Chesley, et al.
In the 1950s and 1960s, researchers Leon Chesley, John Annitto, and Robert Cosgrove investigated the possible familial factor for the conditions of preeclampsia and eclampsia in pregnant women. Preeclampsia and eclampsia, which are related to high blood pressure, have unknown causes and affect at least five percent of all pregnancies.
Format: Articles
Subject: Reproduction, Experiments, Disorders
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
The Effects of Diethylstilbestrol on Embryonic Development
Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain.
Format: Articles
Subject: Disorders
Angelman Syndrome
Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting.
Format: Articles
Subject: Disorders
Hermaphrodites and the Medical Invention of Sex (1998), by Alice Domurat Dreger
Hermaphrodites and the Medical Invention of Sex, by historian of science Alice Domurat Dreger, was published in 1998 by Harvard University Press. In the book, Dreger describes how many doctors and scientists treated human hermaphrodites from the late nineteenth century to the early twentieth century. She states that during this time period, many physicians and scientists struggled to determine the nature sex, and to support a classification of sex as male or female, many physicians and scientists resorted to viewing a person's gonads for identification of his or her sex.
Format: Articles
Subject: Publications, Theories, Disorders
Smith v. Cote (1986)
The case of Smith v. Cote (1986) answered two important questions concerning law and childbirth: does the State of New Hampshire recognize a cause of action for what is defined as wrongful birth, and does the State recognize a cause of action for what is classified as wrongful life? In the case of Smith v. Cote, damages were permitted for wrongful birth, but not for the action of wrongful life.
Format: Articles
Truman William Brophy (1848–1928)
Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth.
Format: Articles
The Effects of Bisphenol A on Embryonic Development
Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Central Nervous System Development
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). The CNS is particularly vulnerable to the effects of ethanol during prenatal development.
Format: Articles
Subject: Disorders, Reproduction
Orchiopexy
Orchiopexy, also known as orchidopexy, is a surgical technique that can correct cryptorchidism and was successfully performed for one of the first times in 1877 in Scotland. Cryptorchidism, a condition where one or both of the testicles fail to descend before birth, is one of the most common male genital birth defects, affecting approximately 2 to 8 percent of full-term male infants, and around 33 percent of premature infants. Typically in the womb, male testes form within the abdomen, then descend into the scrotal area between twenty-five to thirty-five weeks’ gestation.
Format: Articles
Subject: Technologies, Disorders, Reproduction
Fetal Surgery
Fetal surgeries are a range of medical interventions performed in utero on the developing fetus of a pregnant woman to treat a number of congenital abnormalities. The first documented fetal surgical procedure occurred in 1963 in Auckland, New Zealand when A. William Liley treated fetal hemolytic anemia, or Rh disease, with a blood transfusion.
Format: Articles
Subject: Disorders, Ethics, Reproduction
Early Infantile Autism and the Refrigerator Mother Theory (1943-1970)
In 1943, child psychiatrist Leo Kanner in the US gave the first account of Early Infantile Autism that encouraged psychiatrists to investigate what they called emotionally cold mothers, or refrigerator mothers. In 1949, Kanner published Problems of Nosology and Psychodynamics of Early Infantile Autism. In that article, Kanner described autistic children as reared in emotional refrigerators. US child psychiatrists claimed that some psychological or behavioral conditions might have origins in emotional or mental stress, meaning that they might be psychogenic.
Format: Articles
William John Little (1810–1894)
William John Little was one of the first orthopedic surgeons to research congenital malformations and their causes in the nineteenth century and presented preliminary research on a condition modernly known as cerebral palsy, a condition of varying severity that affects a person’s ability to move. Little worked throughout the United Kingdom for the majority of the time he practiced medicine, and eventually founded one of the first orthopedic infirmaries, the Royal Orthopedic Hospital in London, England.
Format: Articles
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