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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

Franz Max Albert Kramer (1878–1967)

Scientist Franz Max Albert Kramer worked as a psychiatrist in Poland and the Netherlands in the early twentieth century and is known for his contributions to research on psychological conditions that experts call hyperkinetic syndromes. Children with hyperkinetic syndromes display inattention, overactivity, and impulsivity. Along with scientist Hans Pollnow, Kramer defined a specific kind of hyperkinetic syndrome based on an initial case study of seventeen children, initially known as Kramer-Pollnow Syndrome.

Format: Articles

Subject: People

Countdown to Life: The Extraordinary Making of You (2015), by the British Broadcasting Corporation and The Open University

In 2015, the British Broadcasting Corporation (BBC) partnered with The Open University to produce the three-part documentary series, Countdown to Life: The Extraordinary Making of You. Michael Mosley, a British television producer and journalist, hosts the documentary. Along with narrating animated scenes of a growing fetus in the womb, Mosley meets with individuals around the world who experienced mutations that can arise in the womb. Introduced over the course of the three episodes, several people share their personal stories of how their bodies did not develop correctly prior to birth.

Format: Articles

Subject: Publications

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

“Maternal and Perinatal Outcomes Associated with a Trial of Labor after Prior Cesarean Delivery” (2004), Mark B. Landon et al.

In 2004 Mark Landon and his colleagues in the United States published “Maternal and Perinatal Outcomes Associated with a Trial of Labor after Prior Cesarean Delivery,” which compared the risks of vaginal delivery and cesarean section for delivery of a fetus after a previous cesarean delivery. During a cesarean section, a physician surgically removes a fetus from a pregnant woman through an incision in her abdomen. By the late 1900s, most clinical guidelines viewed attempting a vaginal birth after a previous cesarean delivery as a reasonable option for most women.

Format: Articles

Subject: Publications

"National Institutes of Health Consensus Development Conference Statement September 22–24, 1980” (1980), by the National Institutes of Health

In 1980 the US National Institutes of Health (NIH) and the US National Institute of Child Health and Human Development (NICHD) released a report titled, “National Institutes of Health Consensus Development Conference Statement September 22–24, 1980.” The report lists recommendations for birth delivery through cesarean sections, a surgical procedure used to deliver the fetus via the pregnant woman’s abdomen. The recommendations arose from the 1980 Consensus Development Conference on Cesarean Childbirth in Bethesda, Maryland.

Format: Articles

Subject: Publications

Friedrich Tiedemann (1781-1861)

Friedrich Tiedemann studied the anatomy of humans and animals in the nineteenth century in Germany. He published on zoological subjects, on the heart of fish, the anatomy of amphibians and echinoderms, and the lymphatic and respiratory system in birds. In addition to his zoological anatomy, Tiedemann, working with the chemist Leopold Gmelin, published about how the digestive system functioned.

Format: Articles

Subject: People

“The Impact of Emotional and Physical Violence During Pregnancy on Maternal and Child Health at One Year Post-partum” (2011), by Sarah McMahon, Chien-Chung Huang, Paul Boxer, Judy L. Postmus

In 2011, Sarah McMahon and colleagues published “The Impact of Emotional and Physical Violence During Pregnancy on Maternal and Child Health at One Year Post-partum,” hereafter, “The Impact,” in the journal, Child and Youth Services Review. While existing studies had indicated negative chronic effects resulting from intimate partner violence, or IPV, such as miscarriage and premature labor, there was little research specifically analyzing the separate and joint effects of psychological and physical abuse on pregnant women and fetuses.

Format: Articles

Subject: Publications

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

“Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-to-Child Transmission of HIV...” (2018), by Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe

In 2018, researchers Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe published, “Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-To-Child Transmission of HIV in a sub-Saharan African Region with High Transmission Rate: Some Solutions Proposed,” in BMC Pregnancy and Childbirth.

Format: Articles

Subject: Publications, Reproduction, Disorders

De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature and Differences of Monsters) (1616), by Fortunio Liceti

In 1616 in Padua, Italy, Fortunio Liceti, a professor of natural philosophy and medicine, wrote and published the first edition of De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature, and Differences of Monsters), hereafter De monstruorum. In De monstruorum, Liceti chronologically documented cases of human and animal monsters from antiquity to the seventeenth century. During the seventeenth century, many people considered such monsters as frightening signs of evil cursed by spiritual or supernatural entities.

Format: Articles

Subject: Theories

"The linear arrangement of six sex-linked factors in drosophila, as shown by their mode of association” (1913), by Alfred Henry Sturtevant

In 1913, Alfred Henry Sturtevant published the results of experiments in which he showed how genes are arranged along a chromosome. Sturtevant performed those experiments as an undergraduate at Columbia University, in New York, New York, under the guidance of Nobel laureate Thomas Hunt Morgan. Sturtevant studied heredity using Drosophila, the common fruit fly. In his experiments, Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping.

Format: Articles

Subject: Experiments, Publications

“Causes of Death Among Stillbirths” (2011), by Stillbirth Collaborative Research Network Writing Group

In December 2011, the Stillbirth Collaborative Research Network, or SCRN, published the article “Causes of Death Among Stillbirths” in The Journal of the American Medical Association. The authors of the article investigate the causes of stillbirth and possible reasons for the racial, ethnic, and geographic disparities in stillbirth rates. According to the Centers for Disease Control and Prevention, or CDC, stillbirth is the death of a fetus at twenty or more weeks during pregnancy.

Format: Articles

Subject: Reproduction

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

"Experimental Studies on Congenital Malformations" (1959), by James G. Wilson

The article Experimental Studies on Congenital Malformations was published in the Journal of Chronic Diseases in 1959. The author, James G. Wilson, studied embryos and birth defects at the University of Florida Medical School in Gainesville, Florida. In his article, Wilson reviewed experiments on birds and mammals from the previous forty years to provide general principles and guidelines in the study of birth defects and teratogens, which are things that cause birth defects.

Format: Articles

Subject: Publications

“All-fours Maneuver for Reducing Shoulder Dystocia During Labor” (1999), by Joseph P. Bruner, Susan B. Drummond, Anna L. Meenan, and Ina May Gaskin

In 1999, Joseph Bruner, Susan B. Drummond, Anna L. Meenan, and Ina May Gaskin published, “All-fours Maneuver for Reducing Shoulder Dystocia During Labor,” in the medical journal, Obstetrical and Gynecological Survey. In the article, the authors described a birthing technique named the all-fours maneuver, or the Gaskin maneuver, and explained its effectiveness in treating fetal shoulder dystocia as compared to other maneuvers.

Format: Articles

Subject: Publications, Processes

The Meckel-Serres Conception of Recapitulation

Johann Friedrich Meckel and Antoine Etienne Reynaud Augustin Serres developed in the early 1800s the basic principles of what later became called the Meckel-Serres Law. Meckel and Serres both argued that fetal deformities result when development prematurely stops, and they argued that these arrests characterized lower life forms, through which higher order organisms progress during normal development. The concept that the embryos of higher order organisms progress through successive stages in which they resemble lower level forms is called recapitulation.

Format: Articles

Subject: Theories

Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior (1964), by Bernard Rimland

Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior (hereafter Infantile Autism) is a book written by Bernard Rimland, published in 1964. The book proposed a theory to explain the causes of autism. The book also synthesized research into autism and used Rimland's neural theory, described in the book, as a theory to explain some aspects of behavior, intelligence, and abnormality.

Format: Articles

Subject: Publications

Truman William Brophy (1848–1928)

Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth.

Format: Articles

Subject: People, Disorders

Estrogen and the Menstrual Cycle in Humans

Estrogen is the primary sex hormone in women and it functions during the reproductive menstrual cycle. Women have three major types of estrogen: estrone, estradiol, and estriol, which bind to and activate receptors within the body. Researchers discovered the three types of estrogen over a period of seven years, contributing to more detailed descriptions of the menstrual cycle. Each type of estrogen molecule contains a slightly different arrangement or number of atoms that in turn causes some of the estrogens to be more active than others.

Format: Articles

Subject: Theories, Reproduction

The National Society of Genetic Counselors (NSGC)

Audrey Heimler and colleagues founded the National Society of Genetic Counselors (NSGC) in 1979 in New Hyde Park in New York, New York. Her stated goals were to establish the field of genetic counseling within biomedicine and to coordinate counselors’ voices, so that physicians and others in the medical industry would not dictate the future of the field. Genetic counselors inform patients about the potential for inherited diseases passed on through family lineages and help to navigate the options available.

Format: Articles

Subject: Organizations

A Series of YouTube Videos Detailing the “CRISPR Babies” Experiment (2018), by He Jiankui

In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus.

Format: Articles

Subject: Publications, Experiments, Ethics

Franz Josef Kallmann (1897–1965)

Franz Josef Kallmann studied the biological and genetic factors of psychological disorders in Germany and the United States in the twentieth century. His studies at the New York State Psychiatric Institute in New York City, New York, focused on the genetic factors that cause psychiatric disorders. Kallmann was one of the first to use twins to study how a mental disorder is passed on by comparing the occurrence of epilepsy and schizophrenia in both fraternal and identical twins.

Format: Articles

Subject: People

“A Two-Factor Hypothesis of Freezing Injury: Evidence from Chinese Hamster Tissue-Culture Cells” (1972), by Peter Mazur, Stanley Leibo, and Ernest Chu

In 1972, Peter Mazur, Stanley Leibo, and Ernest Chu published, “A Two-Factor Hypothesis of Freezing Injury: Evidence from Chinese Hamster Tissue-culture Cells,” hereafter, “A Two-Factor Hypothesis of Freezing Injury,” in the journal, Experimental Cell Research. In the article, the authors uncover that exposure to high salt concentrations and the formation of ice crystals within cells are two factors that can harm cells during cryopreservation. Cryopreservation is the freezing of cells to preserve them for storage, study, or later use.

Format: Articles

Subject: Publications, Theories

The Food and Drug Administration’s Pregnancy and Lactation Labeling Rule (2014)

In 2014, the United States Food and Drug Administration published the Pregnancy and Lactation Labeling Rule to amend previous guidelines for the prescription of drugs for pregnant and lactating women. The 2014 Pregnancy and Lactation Labeling Rule was intended to increase the safety and efficacy of prescription drugs by making drug labels easier for physicians to understand and utilize.

Format: Articles

Subject: Legal