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Emma Wolverton (1889–1978)

Emma Wolverton, also known as Deborah Kallikak, lived her entire life in an institution in New Jersey after psychologist Henry Goddard classified her as feeble-minded. He also wrote a book about Wolverton and her family that psychiatrists previously used to show that intellectual disability is hereditary. At the time, researchers in the psychology field, including Goddard, were working to understand differences in people’s intellectual abilities. They used the term feeble-minded to refer to those they described as having lower intellectual functioning.

Format: Articles

Subject: People, Disorders

Mitochondrial Diseases in Humans

Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.

Format: Articles

Subject: Disorders, Reproduction

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

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

Methylmercury and Human Embryonic Development

Methylmercury (MeHg) is an organic form of mercury that can damage the developing brains of human fetuses. Women who consume methylmercury during pregnancy can bear children who have neurological issues because methylmercury has toxic effects on the nervous system during embryonic development. During the third week of gestation, the human nervous system begins to form in the embryo. During this gestational period, the embryo's nervous system is particularly susceptible to the influence of neurotoxins like methylmercury that can result in abnormalities.

Format: Articles

Subject: Reproduction, Disorders

Cocaine as a Teratogen

Cocaine use by pregnant women has a variety of effects on the embryo and fetus, ranging from various gastro-intestinal and cardiac defects to tissue death from insufficient blood supply. Thus, cocaine has been termed a teratogen, or an agent that causes defects in fetuses during prenatal development. Cocaine is one of the most commonly used drugs in the US and it has a history of both medical and illegal recreational use. It is a drug capable of a wide array of effects on physical and mental health.

Format: Articles

Subject: Reproduction, Disorders

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

Subject: People, Disorders

Dandy-Walker Syndrome

Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages.

Format: Articles

Subject: Disorders

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

The Discovery of Fetal Alcohol Syndrome

The term Fetal Alcohol Syndrome (FAS) was first published in 1973 in an article published in the British medical journal The Lancet. In that article, a group of pediatricians and psychiatrists at the University of Washington Medical School helped to define the morphological defects and developmental delays that can affect children born to alcoholic mothers. Those observations include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing brain that can result in behavioral, learning, and cognitive abnormalities.

Format: Articles

Subject: Disorders, Reproduction

Retinoids As Teratogens

Vitamin A (retinol) is an essential vitamin in the daily functioning of human beings that helps regulate cellular differentiation of epithelial tissue. Studies have shown that an excess of vitamin A can affect embryonic development and result in teratogenesis, or the production of birth defects in a developing embryo. Excess intake of vitamin A and retinoids by pregnant women often results malformations to fetuses' skulls, faces, limbs, eyes, central nervous system.

Format: Articles

Subject: 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

Subject: People, Disorders, Disorders

Isotretinoin (Accutane) as a Teratogen

Isotretinoin is a molecule and a byproduct (metabolite) of vitamin A, and in greater than normal amounts in pregnant women, it can cause fetal abnormalities including cleft lips, ear and eye defects, and mental retardation. Isotretinoin is commonly called by its trade name Accutane, and it's a chemical compound derived from vitamin A, or retinoic acid. Doctors prescribe isotretinoin to treat severe acne. For pregnant women, too much vitamin A or isotretinoin can also cause greater than normal rates of stillbirths and fetal disintegrations after the ninth week of gestation.

Format: Articles

Subject: Reproduction, 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

Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus. Most cells have a total of 46 autosomes, or non-sex chromosomes, and a pair sex chromosomes, XX for genetic females, or XY for genetic males.

Format: Articles

Subject: Disorders

Hydrocephalus During Infancy

Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death.

Format: Articles

Subject: Disorders

Neonatal Respiratory Distress Syndrome and Its Treatment with Artificial Surfactant

Neonatal respiratory distress syndrome, previously called hyaline membrane disease, is a respiratory disease affecting premature newborns. Neonatal respiratory distress syndrome involves shallow breathing, pauses between breaths that last a few seconds, or apnea, and a bluish tinge to the infant’s skin. The syndrome occurs when microscopic sacs called alveoli in infant lungs do not produce surfactant, a liquid that coats the inside of the lungs and helps them inflate during breathing.

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

Subject: People, Disorders

Neonatal Jaundice

Neonatal jaundice is the yellow discoloration of the skin and eyes due to elevated bilirubin levels in the bloodstream of a newborn. Bilirubin is a byproduct of the breakdown of red blood cells. Jaundiced infants are unable to process bilirubin at a normal rate or they have an abnormally high amount of bilirubin in their bloodstream, resulting in a buildup of the yellow colored bilirubin. That build up is called hyperbilirubinemia and is the cause of jaundice.

Format: Articles

Subject: 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

Symptoms Associated with Polycystic Ovarian Syndrome (PCOS)

Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age.

Format: Articles

Subject: Disorders

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

Conjoined Twins

Conjoined twins are twins whose bodies are anatomically joined in utero. The degree to which the twins are attached can range from simple, involving skin and cartilage, to complex, including fusion of the skull(s), brain(s), or other vital organs. There are more than a dozen classifications of conjoined twins but what they all tend to have in common is the sharing of the chorion, placenta, and amniotic sac.

Format: Articles

Subject: Disorders, Reproduction

Diprosopus (Craniofacial Duplication)

Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree. A less severe instance is when the nose is duplicated and the eyes are spaced far apart. In the most extreme instances, the entire face is duplicated, hence the name diprosopus, which is Greek for two-faced. Fetuses with diprosopus often also lack brains (anencephaly), have neural tube defects, or heart malformations.

Format: Articles

Subject: Disorders, Reproduction