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Trisomy 18 (Edwards Syndrome)
John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.
Format: Articles
Subject: Disorders
Fetal Alcohol Syndrome (FAS)
The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy. The alcohol-induced defects include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing central nervous system (CNS).
Format: Articles
Subject: Disorders
Isidore Geoffroy Saint-Hilaire (1805-1861)
Isidore Geoffroy Saint-Hilaire studied anatomy and congenital abnormalities in humans and other animals in nineteenth century France. Under the tutelage of his father, Etienne Geoffroy Saint-Hilaire, Isidore compiled and built on his father's studies of individuals with developmental malformations, then called monstrosities.
Format: Articles
Congenital Rubella Syndrome (CRS)
Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester.
Format: Articles
Subject: Disorders
“On the Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities” (1861), by William John Little
In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity.
Format: Articles
Subject: Disorders, Publications
“Neuroendocrine Tumor of the Uterine Cervix: A Therapeutic Challenge for Gynecologic Oncologists” (2017), by Angiolo Gadducci, Silvestro Carinelli, and Giovanni Aletti
In 2017, Angiolo Gadducci, Silvestro Carinelli, and Giovanni Aletti published, "Neuroendocrine Tumor of the Uterine Cervix: A Therapeutic Challenge for Gynecologic Oncologists," hereafter, "Neuroendocrine Tumor" in the journal, Gynecologic Oncology. The authors conducted a systematic review of existing literature that documented the symptoms, diagnosis, staging, treatment, and outcomes of women diagnosed with neuroendocrine tumors, or cervical NETs, which are tumors with cells similar to cells from both the hormonal and the nervous system.
Format: Articles
Subject: Disorders
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
"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
Effect of Prenatal Alcohol Exposure on Radial Glial Cells
Prenatal alcohol (ethanol) exposure can have dramatic effects on the development of the central nervous system (CNS), including morphological abnormalities and an overall reduction in white matter of the brain. The impact of ethanol on neural stem cells such as radial glia (RG) has proven to be a significant cause of these defects, interfering with the creation and migration of neurons and glial cells during development.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Ocular Development
Maternal consumption of alcohol (ethanol) can result in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The eye and ocular system development is particularly susceptible to the effects of prenatal alcohol exposure and can result in visual impairment or blindness.
Format: Articles
Subject: Disorders, Reproduction
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
Pre- and Post-natal Growth Deficiencies and Fetal Alcohol Syndrome
Maternal consumption of alcohol (ethanol) during pregnancy can inhibit prenatal growth, resulting in fetuses that are small for gestational age. Those prenatal growth deficiencies can have lasting consequences for early childhood development and are often reflected by low weight and stature. Those alcohol-induced pre- and post-natal growth deficiencies ("failure to thrive") are among the abnormal developmental criteria used to identify Fetal Alcohol Syndrome (FAS). FAS is characterized by minor facial abnormalities and deficiencies of the central nervous system as well.
Format: Articles
Subject: Disorders
Teratogens
Teratogens are substances that may produce physical or functional defects in the human embryo or fetus after the pregnant woman is exposed to the substance. Alcohol and cocaine are examples of such substances. Exposure to the teratogen affects the fetus or embryo in a variety of ways, such as the duration of exposure, the amount of teratogenic substance, and the stage of development the embryo or fetus is in during the exposure.
Format: Articles
Subject: Disorders
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
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
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
John Chassar Moir (1900–1977)
John Chassar Moir lived in Scotland during the twentieth century and helped develop techniques to improve the health of pregnant women. Moir helped to discover compounds that doctors could administer to women after childbirth to prevent life-threatening blood loss. Those compounds included the ergot alkaloid called ergometrine, also called ergonovine, and d-lysergic acid beta-propanolamide. Moir tested ergometrine in postpartum patients and documented that it helped prevent or manage postpartum hemorrhage in women.
Format: Articles
Subject: People, Reproduction, 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
“HPV in the Etiology of Human Cancer” (2006) by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann
In 2006, the article “HPV in the Etiology of Human Cancer,” hereafter “HPV and Etiology,” by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann, appeared as the first chapter in the twenty-fourth volume of the journal Vaccine. Muñoz and colleagues discuss the role of the Human Papillomavirus, or HPV, in uterine cervical cancers. The authors introduce the mechanisms of HPV infection that lead to genital and non-genital cancers, establishing a link between HPV and multiple human cancers.
Format: Articles
Subject: Disorders, Processes, Technologies
Olmstead v. L.C. (1999)
In the 1999 case Olmstead v. L.C., hereafter Olmstead, the United States Supreme Court held in a six to three decision that the forced segregation of people based on disability violated the Americans with Disabilities Act. Two women with mental and intellectual disabilities, Lois Curtis and Elaine Wilson, referred to as L.C. and E.W. in case documents, sued the state of Georgia and Tommy Olmstead, the Commissioner of Georgia who headed the Department of Human Resources, for alleged violations of the Americans with Disabilities Act.
Format: Articles
National Association for Down Syndrome (1960–)
The National Association for Down Syndrome, or NADS, is an organization that was founded in 1960 by Kathryn McGee in Chicago, Illinois, to support people with Down syndrome and their families in improving their quality of life. Originally named the Mongoloid Developmental Council, NADS is one of the oldest organizations serving people with Down syndrome and their families in the United States. According to NADS, Down syndrome is a genetic condition that occurs in one in every seven hundred ninety-two people and that causes delays in physical and intellectual development.
Format: Articles
Subject: Disorders, Organizations, People, Ethics
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
“Pelvic Organ Prolapse” (2007), by John E. Jelovsek, Christopher Maher, and Matthew D. Barber
In 2007, physicians John Jelovsek, Christopher Maher, and Matthew Barber published, “Pelvic Organ Prolapse,” in The Lancet. In their article, Jelovsek and colleagues provided an overview of pelvic organ prolapse in women and described the epidemiology, risk factors, symptoms, and management of the condition. Pelvic organ prolapse occurs when a woman’s pelvic floor is weakened or damaged from stress or trauma such as vaginal childbirth.
Format: Articles
Subject: Publications, Disorders
Merck & Company's Development of Gardasil
In 2006, the United States branch of Merck & Co. received FDA approval for Gardasil, a human papillomavirus, or HPV, vaccine that protects against HPV and the cervical cancer that can come with it. In 1891, George F. Merck founded the US branch of the company to distribute chemicals with high purity for use in research, in New York City, New York, and other areas nearby. HPV is a common sexually transmitted infection that can cause genital warts, regular skin warts, cervical cancer, and other cancers.
Format: Articles
Subject: Organizations, People, Technologies, Disorders