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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
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
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
“The Social and Psychological Impact of Endometriosis on Women’s Lives: A Critical Narrative Review” (2013), by Lorraine Culley, Caroline Law, Nicky Hudson, Elaine Denny, Helene Mitchell, Miriam Baumgarten, and Nicholas Raine-Fenning
In “The Social and Psychological Impact of Endometriosis on Women’s Lives: A Critical Narrative Review,” hereafter “Social and Psychological Impact of Endometriosis,” authors Lorraine Culley, Caroline Law, Nicky Hudson, Elaine Denny, Helene Mitchell, Miriam Baumgarten, and Nicholas Raine-Fenning review the extent at which endometriosis results in a negative quality of life for affected women.
Format: Articles
Subject: Reproduction, Disorders, Publications
“Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective” (2011), by Vivette Glover
In 2011, fetal researcher Vivette Glover published “Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective,” hereafter, “Prenatal Stress and the Origins of Psychopathology,” in the Journal of Child Psychology and Psychiatry. In that article, Glover explained how an evolutionary perspective may be useful in understanding the effects of fetal programming. Fetal programming is a hypothesis that attempts to explain how factors during pregnancy can affect fetuses after birth.
Format: Articles
Subject: Theories, Reproduction, Disorders
Human Papillomavirus (HPV) Strains 6 and 11 and Strains 16 and 18
Human Papillomavirus, or HPV, is a viral pathogen that most commonly spreads through sexual contact. HPV strains 6 and 11 normally cause genital warts, while HPV strains 16 and 18 commonly cause cervical cancer, which causes cancerous cells to spread in the cervix. Physicians can detect those HPV strains, using a Pap smear, which is a diagnostic test that collects cells from the female cervix.
Format: Graphics
“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.
Format: Articles
Subject: Publications, Disorders
“Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children” (2009), by Hannah Cookson, Raquel Granell, Carol Joinson, Yoav Ben-Shlomo, and A. John Henderson
In 2009, A. John Henderson and colleagues published “Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children,” hereafter, “Mothers’ Anxiety,” in The Journal of Allergy and Clinical Immunology. Previous studies had shown that maternal stress during pregnancy affects children’s health during childhood. The researchers explored the association of asthma in children with maternal anxiety during pregnancy. The cause of asthma is often unknown.
Format: Articles
Subject: Theories, Reproduction, Publications, Disorders
US Endocrine Disruptor Screening Program
In 1996, the US Congress mandated that the US Environmental Protection Agency (EPA) create and regulate the Endocrine Disruptor Screening Program. The program tests industrial and agricultural chemicals for hormonal impacts in humans and in wildlife that may disrupt organisms' endocrine systems. The endocrine system regulates the release of small amounts of chemical substances called hormones to keep the body functioning normally.
Format: Articles
Fetus in Fetu
Fetus in fetu is a rare variety of parasitic twins , where the developmentally abnormal parasitic twin is completely encapsulated within the torso of the otherwise normally developed host twin. In the late eighteenth century, German anatomist Johann Friedrich Meckel was the first to described fetus in fetu, which translates to “fetus within fetus.” Fetus in fetu is thought to result from the unequal division of the totipotent inner cell mass , the mass of cells that is the ancestral precursor to all cells in the body.
Subject: Theories, Disorders, 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
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
Cystic Fibrosis
Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.
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
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
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
Thesis: Leo Kanner and the Psychobiology of Autism
This thesis illustrates that Kanner held an explicitly descriptive frame of reference toward his eleven child patients, their parents, and autism. Adolf Meyer, his mentor at Johns Hopkins, trained him to make detailed life-charts under a clinical framework called psychobiology. By understanding that Kanner was a psychobiologist by training, I revisit the original definition of autism as a category of mental disorder and restate its terms.
Format: Essays and Theses
Neural Tube Defects (NTD): Folic Acid and Pregnancy
In the US, one in 1000 births is affected by neural tube defects (NTD). A neural tube defect is a birth defect involving the malformation of body features associated with the brain and spinal cord. An NTD originates from and is characterized by incomplete closure of the neural tube, which is an organizer and precursor of the central nervous system.
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
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
“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
“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
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
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
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