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Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13, and 18

Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy, by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to three trisomies, trisomy twenty-one known as Down syndrome, trisomy eighteen known as Edwards Syndrome, and trisomy thirteen known as Patau Syndrome.

Format: Articles

Subject: Technologies

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

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

Human Papillomavirus (HPV) Strains 16 and 18

The Human Papillomavirus (HPV) strains 16 and 18 are the two most common HPV strains that lead to cases of genital cancer. HPV is the most commonly sexually transmitted disease, resulting in more than fourteen million cases per year in the United States alone. When left untreated, HPV leads to high risks of cervical, vaginal, vulvar, anal, and penile cancers. In 1983 and 1984 in Germany, physician Harald zur Hausen found that two HPV strains, HPV-16 and HPV-18, caused cervical cancer in women. In the early twenty first century, pharmaceutical companies Merck & Co.

Format: Articles

Subject: Theories

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

Subject: Theories, Disorders

John Langdon Down (1828–1896)

John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes.

Format: Articles

Subject: People

Jérôme Lejeune (1926−1994)

Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome. Down Syndrome is a condition present in an individual since birth and is characterized by physical and developmental anomalies such as small ears, a short neck, heart defects, and short height as children and adults.

Format: Articles

Subject: People

The Meselson-Stahl Experiment (1957–1958), by Matthew Meselson and Franklin Stahl

In an experiment later named for them, Matthew Stanley Meselson and Franklin William Stahl in the US demonstrated during the 1950s the semi-conservative replication of DNA, such that each daughter DNA molecule contains one new daughter subunit and one subunit conserved from the parental DNA molecule. The researchers conducted the experiment at California Institute of Technology (Caltech) in Pasadena, California, from October 1957 to January 1958.

Format: Articles

Subject: Processes, Experiments

Harvey Leroy Karman (1924–2008)

Harvey Karman was an abortionist, inventor, and activist for safe abortion techniques in the US during the twentieth century. Karman developed the Karman cannula, a flexible soft tube used for vacuum aspiration abortions. Karman traveled extensively throughout the US to educate healthcare providers on how to administer safe abortions. He also traveled to Bangladesh, India, China, and other developing nations to promote safe and simple abortion techniques that anyone could perform without previous medical training.

Format: Articles

Subject: People

Endoscopic Fetoscopy

Endoscopic fetoscopy is a minimally invasive surgical procedure performed during pregnancy that allows physicians to view the fetus in-utero. Physicians use endoscopic fetoscopy to evaluate, diagnose, and treat fetal abnormalities. Physicians use an endoscope, or a thin, flexible surgical device with a light attached to its end, to perform endoscopic fetoscopy procedures. In 1954, Björn Westin performed the first endoscopic fetoscopy in Sweden.

Format: Articles

Subject: Technologies

Estrogen

The figure depicts three different molecular structures of estrogen found in mammals’ that differ by the arrangement of bonds and side groups. The molecular structures of the three estrogen molecules differ by the arrangement of chemical bonds and side groups attached to the core steroid structure, cholesterol, which contains three cyclohexane rings and one cyclopentane ring.

Format: Graphics

Subject: Theories, Processes, 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

Dorothy Andersen (1901–1963)

Dorothy Andersen studied cystic fibrosis in the United States during the early 1900s. In 1935, Andersen discovered lesions in the pancreas of an infant during an autopsy, which led her to classify a condition she named cystic fibrosis of the pancreas. In 1938, Andersen became the first to thoroughly describe symptoms of the medical condition cystic fibrosis.

Format: Articles

Subject: People

Intrauterine Pressure Catheter

An intrauterine pressure catheter (IUPC) is a device placed inside a pregnant woman’s uterus to monitor uterine contractions during labor. During labor, a woman’s uterus contracts to dilate, or open, the cervix and push the fetus into the birth canal. The catheter measures the pressure within the amniotic space during contractions and allows physicians to evaluate the strength, frequency, and duration of contractions.

Format: Articles

Subject: Technologies

Sheppard-Towner Maternity and Infancy Protection Act (1921)

In November 1921, US Congress passed the National Maternity and Infancy Protection Act, also called the Sheppard-Towner Act. The Act provided federal funds to states to establish programs to educate people about prenatal health and infant welfare. Advocates argued that it would curb the high infant mortality rate in the US.

Format: Articles

Subject: Legal, Outreach

Human Papillomavirus (HPV) Strains 16 and 18

The Human Papillomavirus (HPV) strains 16 and 18 are the two most common HPV strains that lead to cases of genital cancer. HPV is the most commonly sexually transmitted disease, resulting in more than fourteen million cases per year in the United States alone. When left untreated, HPV leads to high risks of cervical, vaginal, vulvar, anal, and penile cancers. In 1983 and 1984 in Germany, physician Harald zur Hausen found that two HPV strains, HPV-16 and HPV-18, caused cervical cancer in women. In the early twenty first century, pharmaceutical companies Merck & Co.

Format: Articles

Subject: Theories

Harald zur Hausen's Experiments on Human Papillomavirus Causing Cervical Cancer (1976–1987)

From 1977 to 1987, Harald zur Hausen led a team of researchers across several institutions in Germany to investigate whether the human papillomavirus (HPV) caused cervical cancer. Zur Hausen's first experiment tested the hypothesis that HPV caused cervical cancer rather than herpes simplex virus type 2 (HSV-2), the then accepted cause. His second and third experiments detailed methods to identify two previously unidentified HPV strains, HPV 16 and HPV 18, in cervical cancer tumor samples. The experiments showed that HPV 16 and 18 DNA were present in cervical tumor samples.

Format: Articles

Subject: Experiments

Using Digital PCR to Detect Fetal Chromosomal Aneuploidy in Maternal Blood (2007)

In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts.

Format: Articles

Subject: Experiments

“HPV in the Etiology of Human Cancer” (2006) by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann

In 2006, the article “HPV in the Etiology of Human Cancer,” hereafter “HPV and Etiology,” by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann, appeared as the first chapter in the twenty-fourth volume of the journal Vaccine. Muñoz and colleagues discuss the role of the Human Papillomavirus, or HPV, in uterine cervical cancers. The authors introduce the mechanisms of HPV infection that lead to genital and non-genital cancers, establishing a link between HPV and multiple human cancers.

Format: Articles

Subject: Disorders, Processes, Technologies

Ian Hector Frazer (1953– )

Ian Hector Frazer studied the human immune system and vaccines in Brisbane, Australia, and helped invent and patent the scientific process and technology behind what later became the human papillomavirus, or HPV, vaccinations. According to the Centers for Disease Control and Prevention of the US, or CDC, HPV is the most common sexually transmitted infection, and can lead to genital warts, as well as cervical, head, mouth, and neck cancers.

Format: Articles

Subject: People

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

Freedom of Access to Clinic Entrances Act (1994)

On 26 May 1994, US President Bill Clinton signed the Freedom of Access to Clinic Entrances Act in to law, which federally criminalized acts of obstruction and violence towards reproductive health clinics. The law was a reaction to the increasing violence toward abortion clinics, providers, and patients during the 1990s. That violence included clinic blockades and protests, assaults on physicians and patients, and murders. The Freedom of Access to Clinic Entrances Act established

Format: Articles

Subject: Legal

Frazer v. Schlegel (2007)

On 20 August 2007, in Frazer v. Schlegel, the United States Court of Appeals for the Federal Circuit decided that researchers Ian Frazer and Jian Zhou owned the rights to the vaccine patent for Human Papillomavirus, or HPV, instead of a research team led by Richard Schlegel. Frazer v. Schlegel reversed the decision that the Board of Patent Appeals and Interferences had previously made, awarding the patent to Schlegel on the basis that Frazer’s patent application contained inaccurate science.

Format: Articles

Subject: Legal, Technologies

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