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“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

Agent Orange as a Cause of Spina Bifida

Spina bifida is a birth defect that affects the spines of developing fetuses and infants, and research in the 20th century indicated that chemicals in the herbicide Agent Orange likely lead to the birth defect. People with spina bifida can have nerve damage, paralysis, and mental disabilities. During the Vietnam War in the 1960s, the US military employed Agent Orange and other herbicides to destroy enemy crops and forest cover until 1970.

Format: Articles

Subject: Disorders

Dissertation: Fetal Risk, Federal Response: How Fetal Alcohol Syndrome Influenced the Adoption of Alcohol Health Warning Labels

In the fifteen years between the discovery of fetal alcohol syndrome, or FAS, in 1973 and the passage of alcohol beverage warning labels in 1988, FAS transformed from a medical diagnosis between practitioner and pregnant women to a broader societal risk imbued with political and cultural meaning. In this dissertation, I examine how scientific, social, moral, and political narratives dynamically interacted to construct the risk of drinking during pregnancy and the public health response of health warning labels on alcohol.

Format: Essays and Theses

Subject: Disorders, Reproduction, Legal

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

Ectopic Pregnancy

Many difficulties can arise with a pregnancy even after the sperm successfully fertilizes the oocyte. A major problem occurs if the fertilized egg tries to implant before reaching its normal implantation site, the uterus. An ectopic pregnancy occurs when a fertilized egg implants anywhere other than in the uterus, most commonly in the fallopian tubes. Ectopic pregnancies cannot continue to term, so a physician must remove the developing embryo as early as possible.

Format: Articles

Subject: Disorders, Processes, Reproduction

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

Studies of Thalidomide's Effects on Rodent Embryos from 1962-2008

Thalidomide is a sedative drug introduced to European markets on 1 October 1957 after extensive testing on rodent embryos to ensure its safety. Early laboratory tests in rodent populations showed that pregnant rodents could safely use it, so doctors prescribed Thalidomide to treat morning sickness in pregnant women. However, in humans Thalidomide interfered with embryonic and fetal development in ways not observed in rodent tests.

Format: Articles

Subject: Organisms, Reproduction, 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

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

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

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

Subject: Legal, Disorders

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

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

Subject: People, Disorders

Martius Flap Procedure to Repair Obstetric Fistulas

The Martius flap procedure is a surgical procedure used to treat obstetric fistulas in women. Heinrich Martius developed the procedure in twentieth century Germany to treat women with urinary incontinence caused by stress, and later doctors used it to repair obstetric fistulas. Fistulas occur in pregnant women when a hole is torn between the vagina and the urinary tract (called vesicovaginal) or the vagina and the rectum (called rectovaginal). The hole, or fistula, occurs in the tissue separating two organs and therefore obstetric fistulas result in either urinary or fecal incontinence.

Format: Articles

Subject: Technologies, Disorders

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

Agent Orange Birth Defects

Sprayed extensively by the US military in Vietnam, Agent Orange contained a dioxin contaminant later found to be toxic to humans. Despite reports by Vietnamese citizens and Vietnam War veterans of increased rates of stillbirths and birth defects in their children, studies in the 1980s showed conflicting evidence for an association between the two. In 1996, the US National Academy of Sciences reported that there was evidence that suggested dioxin and Agent Orange exposure caused spina bifida, a birth defect in which the spinal cord develops improperly.

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

“Maternal Stress Responses and Anxiety During Pregnancy: Effects on Fetal Heart Rate” (2000), by Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado

In 2000, Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado published “Maternal stress responses and anxiety during pregnancy: Effects on fetal heart rate,” in which the authors conducted a study on how pregnant women’s stress and anxiety affects the health of their fetuses. Previous studies had shown that stress and anxiety during pregnancy could cause fetal abnormalities.

Format: Articles

Subject: Publications, 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

Thesis: From Monsters to Medicine: A Historical Analysis of Changes in the Field of Teratology Over the Twentieth Century

This project focuses on the history of how teratogens, or agents which have the potential to cause birth defects, have been understood and tested for teratogenic potential in the US over the twentieth century. Prior to this time, teratogen studies were primarily concerned with cataloguing defects rather than exploring possible causes. At the turn of the twentieth century, experimental teratogen studies with the aim of elucidating mechanisms commenced.

Format: Essays and Theses

Subject: Disorders

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

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

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

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

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