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"Congenital Club Foot in the Human Fetus" (1980), by Ernesto Ippolito and Ignacio Ponseti
In 1980, Ernesto Ippolito and Ignacio Ponseti published their results on a histological study they performed on congenital club foot in human fetuses. The researchers examined the feet of four aborted fetuses and compared the skeletal tissues from healthy feet to those affected by congenital club foot. Infants born with club foot are born with one or both feet rigidly twisted inwards and upwards, making typical movement painful and challenging.
Format: Articles
Subject: Experiments
Developmental Timeline of Alcohol-Induced Birth Defects
Maternal consumption of alcohol (ethanol) during pregnancy can result in a continuum of embryonic developmental abnormalities that vary depending on the severity, duration, and frequency of exposure of ethanol during gestation. Alcohol is a teratogen, an environmental agent that impacts the normal development of an embryo or fetus. In addition to dose-related concerns, factors such as maternal genetics and metabolism and the timing of alcohol exposure during prenatal development also impact alcohol-related birth defects.
Format: Articles
Subject: Disorders, Reproduction
Ignacio Vives Ponseti (1914-2009)
Ignacio Vives Ponseti developed a noninvasive method for treating congenital club foot in the US during the late 1940s. Congenital club foot is a birth deformity in which one or both of an infant's feet are rotated inward beneath the ankle, making normal movement rigid and painful. Ponseti developed a treatment method, later called the Ponseti method, that consisted of a series of manipulations and castings of the club foot performed in the first few months of life.
Format: Articles
Subject: People
Josef Warkany (1902–1992)
Josef Warkany studied the environmental causes of birth defects in the United States in the twentieth century. Warkany was one of the first researchers to show that factors in the environment could cause birth defects, and he helped to develop guidelines for the field of teratology, the study of birth defects. Prior to Warkany’s work, scientists struggled to explain if or how environmental agents could cause birth defects. Warkany demonstrated that a deficiency or excess of vitamin A in maternal nutrition could cause birth defects.
Format: Articles
Subject: People
Park v. Chessin (1977)
The New York Appellate Court ruled on 11 December 1977 in favor of Steven and Hetty Park and against Herbert Chessin for the wrongful life of the Parks' child. In a wrongful life case, a disabled or sometimes deceased child brings suit against a physician for failing to inform its parents of possible genetic defects, thereby causing harm to the child when born. Park v. Chessin was the first case to rule that medical personnel could be legally responsible for wrongful life. Further cases such as the 1979 case Berman v. Allan and the 1982 case Turpin v.
Format: Articles
Subject: Legal, Reproduction
Sidney Q. Cohlan (1915-1999)
Sidney Q. Cohlan studied birth defects in the US during the twentieth century. Cohlan helped to discover that if a pregnant woman ate too much vitamin A her fetus faced a higher than normal risk of teratogenic effects, such as cleft palate. A teratogen is a substance that causes malformation of a developing organism. Cohlan also identified the teratogenic effects of several other substances including a lack of normal magnesium and prenatal exposure to the antibiotic tetracycline.
Format: Articles
Subject: People
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
Somites: Formation and Role in Developing the Body Plan
Somites are blocks of mesoderm that are located on either side of the neural tube in the developing vertebrate embryo. Somites are precursor populations of cells that give rise to important structures associated with the vertebrate body plan and will eventually differentiate into dermis, skeletal muscle, cartilage, tendons, and vertebrae. Somites also determine the migratory paths of neural crest cells and of the axons of spinal nerves.
Format: Articles
Subject: Processes
Niemann-Pick Disease
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.
Format: Articles
Subject: Disorders
Role of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a known teratogen, an agent that causes birth defects and acts upon developing embryos through mechanisms that are not yet fully understood.
Format: Articles
Subject: Disorders
Bowen v. American Hospital Association (1986)
The 1986 US Supreme Court decision Bowen v. American Hospital Association rejected the federal government's use of Section 504 of the Rehabilitation Act of 1973 to intervene in a hospital's treatment for neonates born with severe congenital defects. This case set a precedent for the role of government involvement in cases where parents refused consent for care of disabled newborns.
Format: Articles
Subject: Legal, Reproduction
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.
Format: Articles
Subject: Disorders, Reproduction
"Vietnam Veterans' Risks for Fathering Babies with Birth Defects" (1984), by J. David Erickson et al.
In 1984, J. David Erickson and his research team published the results of a study titled 'Vietnam Veterans' Risks for Fathering Babies with Birth Defects' that indicated that Vietnam veterans were at increased risk of fathering infants with serious congenital malformations, or birth defects.
Format: Articles
Subject: Publications
Tay-Sachs Disease
In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.
Format: Articles
Subject: Disorders
Virginia Apgar (1909–1974)
Virginia Apgar worked as an obstetrical anesthesiologist, administering drugs that reduce women’s pain during childbirth, in the US in the mid-twentieth century. In 1953, Apgar created a scoring system using five easily assessable measurements, including heart rate and breathing rate, to evaluate whether or not infants would benefit from medical attention immediately after birth. Apgar’s system showed that infants who were previously set aside as too sick to survive, despite low Apgar scores, could recover with immediate medical attention.
Format: Articles
Subject: People, Reproduction
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
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
Neurocristopathies
Neurocristopathies are a class of pathologies in vertebrates,
including humans, that result from abnormal expression, migration,
differentiation, or death of neural crest cells (NCCs) during embryonic development. NCCs are cells
derived from the embryonic cellular structure called the neural crest.
Abnormal NCCs can cause a neurocristopathy by chemically affecting the
development of the non-NCC tissues around them. They can also affect the
development of NCC tissues, causing defective migration or
Format: Articles
Subject: Theories
Michael R. Harrison (1943– )
Michael R. Harrison worked as a pediatric surgeon in the US throughout the late-twentieth century and performed many fetal surgeries, including one of the first successful surgeries on a fetus in utero, or while it is still in its gestational carrier’s body, also called open fetal surgery. A fetus is an organism developing inside of the uterus that is anywhere from eight weeks old to birth. Harrison hypothesized that open fetal surgery could correct developmental defects that may become fatal to the fetus at birth.
Format: Articles
Subject: People
Stanley Alan Plotkin (1932– )
Stanley Alan Plotkin developed vaccines in the United States during the mid to late twentieth century. Plotkin began his research career at the Wistar Institute in Philadelphia, Pennsylvania, where he studied the rubella virus. In pregnant women, the rubella virus caused congenital rubella syndrome in the fetus, which led to various malformations and birth defects. Using WI-38 cells, a line of cells that originated from tissues of aborted fetuses, Plotkin successfully created RA27/3, a weakened strain of the rubella virus, which he then used to develop a rubella vaccine.
Format: Articles
Subject: People
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
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
“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
"Cell Deaths in Normal Vertebrate Ontogeny" (1951), by Alfred Glücksmann
The review article “Cell Deaths in Normal Vertebrate Ontogeny” (abbreviated as “Cell Deaths”) was published in Biological Reviews of the Cambridge Philosophy Society in 1951. The author, Alfred Glücksmann, was a German developmental biologist then working at the Strangeways Research Laboratory, Cambridge, England. In “Cell Deaths,” Glücksmann summarizes observations about cell death in normal vertebrate development that he had compiled from literature published during the first half of the twentieth century.
Format: Articles
Subject: Publications
Nicole Le Douarin and Charles Ordahl's Experiments on the Developmental Lineages of Somites
Through various studies developmental biologists have been able to determine that the muscles of the back, ribs, and limbs derive from somites. Somites are blocks of cells that contain distinct sections that diverge into specific types (axial or limb) of musculature and are an essential part of early vertebrate development. For many years the musculature of vertebrates was known to derive from the somites, but the exact developmental lineage of axial and limb muscle progenitor cells remained a mystery until Nicole Le Douarin and Charles P.
Format: Articles
Subject: Experiments