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Trisomy 21 (Down Syndrome)

As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease.

Format: Articles

Subject: Reproduction, Disorders, Ethics

“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

“Levator Trauma is Associated with Pelvic Organ Prolapse” (2008), by Hans P. Dietz and Judy M. Simpson

Hans Peter Dietz and Judy Simpson published, “Levator Trauma is Associated with Pelvic Organ Prolapse,” in the journal BJOG: An International Journal of Obstetrics and Gynecology in 2008. In their article, Dietz and Simpson estimated the risk of pelvic organ prolapse in women who attained injuries to the pelvic levator muscles. The levator muscles, also known as the levator ani, are a major muscle group that comprise the pelvic floor. Along with other muscles, the pelvic floor supports organs in a woman’s pelvis, such as the bladder, uterus, and rectum.

Format: Articles

Subject: Publications, 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

Teratomas

Teratomas are embryonal tumors that normally arise from germ cells and are typically benign. They are defined as being composed either of tissues that are foreign to the area in which they form, or of tissues that derive from all three of the germ layers. Malignant teratomas are known as teratocarcinomas; these cancerous growths have played a pivotal role in the discovery of stem cells. "Teratoma" is Greek for "monstrous tumor"; these tumors were so named because they sometimes contain hair, teeth, bone, neurons, and even eyes.

Format: Articles

Subject: Processes, 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

The Effects of Thalidomide on Embryonic Development

Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. Some of these agents target the embryonic period's "window of susceptibility," three to eight weeks after a pregnant woman's last menstruation, when the highest degree of sensitivity to embryonic cell differentiation and organ formation occurs. The embryonic period or critical period is when most organ systems form, whereas the fetal period, week eight to birth, involves the growth and modeling of the organ systems.

Format: Articles

Subject: Processes, 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

“Epidemiology of Surgically Managed Pelvic Organ Prolapse and Urinary Incontinence” (1997), by Ambre L. Olsen, Virginia J. Smith, John O. Bergstrom, Joyce C. Colling, and Amanda L. Clark

In 1997, physicians and researchers Ambre Olsen, Virginia Smith, John Bergstrom, Joyce Colling, and Amanda Clark published, “Epidemiology of Surgically Managed Pelvic Organ Prolapse and Urinary Incontinence,” in the journal Obstetrics and Gynecology. In their article, the authors retrospectively analyzed data from patients who underwent surgery for pelvic organ prolapse or urinary incontinence two years prior in 1995. Often due to a weakening of or damage to their pelvic muscles, women with pelvic organ prolapse can experience a descent of pelvic organs into the lower pelvis and vagina.

Format: Articles

Subject: Publications, Disorders

“Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function” (2007), by Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis

In 2007, Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis published “Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function,” hereby “Diabetes Mellitus: Implications,” in the journal Human Reproduction. In their article, the authors explore the effects of elevated blood sugar in the form of diabetes mellitus on the quality of male sperm.

Format: Articles

Subject: Publications, 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

Jeffrey Weinzweig's Experiments on In Utero Cleft Palate Repair in Goats (1999-2002)

Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb.

Format: Articles

Subject: Experiments, 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

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

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

Pennsylvania Association for Retarded Citizens (PARC) v. Commonwealth of Pennsylvania (1972)

In 1972, the United States District Court for the Eastern District of Pennsylvania decided the case of Pennsylvania Association for Retarded Citizens (PARC) v. Commonwealth of Pennsylvania, hereafter PARC v. Pennsylvania. The court ruled that the state could not deny an individual's right to equal access to education based on an intellectual or developmental disability status. PARC brought the case against the state of Pennsylvania on behalf of fourteen families with intellectually disabled children who were unable to access to public schools based on their child’s disability.

Format: Articles

Subject: Legal, Disorders

Olmstead v. L.C. (1999)

In the 1999 case Olmstead v. L.C., hereafter Olmstead, the United States Supreme Court held in a six to three decision that the forced segregation of people based on disability violated the Americans with Disabilities Act. Two women with mental and intellectual disabilities, Lois Curtis and Elaine Wilson, referred to as L.C. and E.W. in case documents, sued the state of Georgia and Tommy Olmstead, the Commissioner of Georgia who headed the Department of Human Resources, for alleged violations of the Americans with Disabilities Act.

Format: Articles

Subject: Legal, 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

Mills v. Board of Education of District of Columbia (1972)

In Mills v. Board of Education of District of Columbia (1972), the United States District Court for the District of Columbia held that students with disabilities are entitled to an education, and that education cannot be denied based on the accommodations’ additional cost to the school. Mills was a class action lawsuit brought to the court on behalf of seven children denied public education by the District of Columbia School District because of their disabilities and the cost of accommodations the school would incur to educate them.

Format: Articles

Subject: Legal, Ethics, Disorders

United States v. Georgia (2006)

In United States v. Georgia, the United States Supreme Court held, in a unanimous decision, that the rights protected under the Americans with Disabilities Act, or the ADA, extended to inmates held in state prisons. The Court also abolished sovereign immunity in cases where the Eighth Amendment is involved. The case came about as a result of Tony Goodman, a paraplegic man in a Georgia state prison, who attempted to sue the state under Title II of the ADA.

Format: Articles

Subject: Legal, Ethics, Disorders

Americans with Disabilities Act (1990)

In 1990, the United States Congress passed the Americans with Disabilities Act, or the ADA, which prohibits discrimination against people with disabilities by employers, governments, or public accommodations. Following gains made during the civil rights movements of the 1900s, people with disabilities sought similar anti-discrimination legislation. The ADA was the culmination of decades of protest and advocacy from the disability rights movement. After the ADA, federal law protected people with an impairment that limited major life functions like sight or mobility from discrimination.

Format: Articles

Subject: Disorders, Organizations, Legal

Merck & Company's Development of Gardasil

In 2006, the United States branch of Merck & Co. received FDA approval for Gardasil, a human papillomavirus, or HPV, vaccine that protects against HPV and the cervical cancer that can come with it. In 1891, George F. Merck founded the US branch of the company to distribute chemicals with high purity for use in research, in New York City, New York, and other areas nearby. HPV is a common sexually transmitted infection that can cause genital warts, regular skin warts, cervical cancer, and other cancers.

Format: Articles

Subject: Organizations, People, Technologies, Disorders