Search

Displaying 51 - 75 of 84 items.

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

“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

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

“The Standardization of Terminology of Female Pelvic Organ Prolapse and Pelvic Floor Dysfunction” (1996), Richard C. Bump, Anders Mattiasson, Kari Bø, Linda P. Brubaker, John O.L. DeLancey, Peter Klarskov, Bob L. Shull, Anthony R.B. Smith

In 1996, a team of researchers associated with the International Continence Society published “The Standardization of Terminology of Female Pelvic Organ Prolapse and Pelvic Floor Dysfunction” in American Journal of Obstetrics and Gynecology. Pelvic organ prolapse is characterized by the descent of the pelvic organs into the lower portion of the pelvis and is often caused by a weakening of the muscles and ligaments that normally hold the organs in place.

Format: Articles

Subject: Publications, 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

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

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

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

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

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

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

Subject: Disorders, Legal, Ethics

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

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

Subject: Disorders, Theories

“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

“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

“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

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

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

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

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

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

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

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