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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

Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.

Format: Articles

Subject: Disorders

Congenital Rubella Syndrome (CRS)

Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester.

Format: Articles

Subject: Disorders

“Of Pregnancy and Progeny” (1980), by Norbert Freinkel

Norbert Freinkel’s lecture Of Pregnancy and Progeny was published by the American Diabetes Association’s journal Diabetes in December of 1980. In the lecture, Freinkel argued that pregnancy changes the way that the female body breaks down and uses food. Through experiments that involved pregnant women as well as infants, Freinkel established the body’s maternal metabolism and how it affects both the mother and the infant. Freinkel’s main focus of research in the latter part of his life was diabetes, specifically in pregnant women.

Format: Articles

Subject: Publications

"Gene Regulation for Higher Cells: A Theory" (1969), by Roy J. Britten and Eric H. Davidson

In 1969, Roy J. Britten and Eric H. Davidson published Gene Regulation for Higher Cells: A Theory, in Science. A Theory proposes a minimal model of gene regulation, in which various types of genes interact to control the differentiation of cells through differential gene expression. Britten worked at the Carnegie Institute of Washington in Washington, D.C., while Davidson worked at the California Institute of Technology in Pasadena, California. Their paper was an early theoretical and mechanistic description of gene regulation in higher organisms.

Format: Articles

Subject: Publications

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

Gamete Intra-Fallopian Transfer (GIFT)

Various techniques constitute assisted reproduction, one of which is gamete intra-fallopian transfer (GIFT). The first example of GIFT involved primates during the 1970s; however, the technology was unsuccessful until 1984 when an effective GIFT method was invented by Ricardo Asch at the University of Texas Health Sciences Center and the procedure resulted in the first human pregnancy. The GIFT technique was created in hopes of generating an artificial insemination process that mimicked the physiological sequences of normal conception.

Format: Articles

Subject: Technologies, Reproduction

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

"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

The Y-Chromosome in Animals

The Y-chromosome is one of a pair of chromosomes that determine the genetic sex of individuals in mammals, some insects, and some plants. In the nineteenth and twentieth centuries, the development of new microscopic and molecular techniques, including DNA sequencing, enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages.

Format: Articles

Subject: Reproduction, Theories

“Elective Induction of Labor” (1955), by Edward Bishop

In 1955, obstetrician Edward Bishop, a physician specializing in childbirth, published the article “Elective Induction of Labor,” in which he proposed the best conditions for pregnant women to elect to induce, or begin, labor. Elective induction of labor requires an obstetrician to administer a drug to help a pregnant woman to start her contractions, and to rupture the fluid-filled sac surrounding the fetus called the amniotic sac.

Format: Articles

Subject: Reproduction, Publications

“Pelvic Scoring for Elective Induction” (1964), by Edward Bishop

In the 1964 article, “Pelvic Scoring for Elective Induction,” obstetrician Edward Bishop describes his method to determine whether a doctor should induce labor, or artificially start the birthing process, in a pregnant woman. Aside from medical emergencies, a woman can elect to induce labor to choose when she gives birth and have a shorter than normal labor. The 1964 publication followed an earlier article by Bishop, also about elective induction.

Format: Articles

Subject: Reproduction, Publications

Gregory Goodwin Pincus (1903-1967)

Gregory Goodwin Pincus, one of the original researchers responsible for the development of the first oral contraceptive pill, was born in Woodbine, New Jersey, on 19 April 1903 to Russian Jewish parents. In 1924 Pincus received his BS degree from Cornell University, and in 1927 he received his MS and PhD from Harvard University, having studied under William Ernest Castle and William John Crozier.

Format: Articles

Subject: People, Reproduction

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

Elinor Catherine Hamlin (1924- )

Elinor Catherine Hamlin founded and helped fund centers in Ethiopia to treat women affected by fistulas from obstetric complications. Obstetric fistulas develop in women who experience prolonged labor, as the pressure placed on the pelvis by the fetus during labor causes a hole, or fistula, to form between the vagina and the bladder (vesicovaginal fistula) or between the vagina and the rectum (rectovaginal fistula). Both of those conditions result in urinary or fecal incontinence, which often impacts womenÍs social status within their communities.

Format: Articles

Subject: People, Reproduction

Arizona State University Embryo Project Photograph Collections

In the 1970s Stanford University Embryologist Harold Heath sent a box of photographs to Frederick B. Churchill, who was a Professor in the History and Philosophy of Science Department at Indiana University. Heath was born in Indiana, he knew that Churchill was the leading historian of embryology, and he wanted his photographs to be used and therefore wanted them to be housed somewhere with an interest in the history of biology. Heath made it clear that he was donating the photographs for use by scholars and the public.

Format: Articles

Subject: Outreach

Alexis Carrel (1873-1944)

Alexis Carrel was a doctor and researcher who studied tissue cultures. He continued Ross Granville Harrison's research and produced many improvements in the field of tissue culture and surgery. He was the recipient of the 1912 Nobel Prize in Physiology or Medicine for his development of surgical techniques to repair blood vessels. Carrel was born on 28 June 1873 in Sainte-Foy-les-Lyon, France, to Anne-Marie Ricard and Alexis Carrel Billiard. His father died when he was five years old.

Format: Articles

Subject: People

An Atlas of Fertilization and Karyokinesis of the Ovum (1895), by Edmund Beecher Wilson

Edmund Beecher Wilson in the US published An Atlas of Fertilization and Karyokinesis of the Ovum (hereafter called An Atlas) in 1895. The book presents photographs by photographer Edward Leaming that capture stages of fertilization, the fusion of sperm and egg and early development of sea urchin (Toxopneustes variegatus) ova, or egg cell. Prior to An Atlas, no one photographed of eggcell division in clear detail. Wilson obtained high quality images of egg cells by cutting the cells into thin sections and preserving them throughout different stages of development.

Format: Articles

Subject: Publications, Reproduction

Light Therapy for Neonatal Jaundice

Light therapy, also called phototherapy, exposes infants with jaundice, a yellowing of the skin and eyes, to artificial or natural light to break down the buildup of bilirubin pigment in the blood. Bilirubin is an orange to red pigment produced when red blood cells break down, which causes infants to turn into a yellowish color. Small amounts of bilirubin in the blood are normal, but when there is an accumulation of excess bilirubin pigment, the body deposits the excess bilirubin in the layer of fat beneath the skin.

Format: Articles

Subject: Technologies

The US President's Council on Bioethics (2001-2009)

The US President's Council on Bioethics was an organization headquartered in Washington D.C. that was chartered to advise then US President George W. Bush on ethical issues related to biomedical science and technology. In November 2001, US President George W. Bush created the President's Council on Bioethics (PCB). Convened during a nationwide cloning and embryonic stem cell research debate, the Council stated that it worked to address arguments about ethics from many different perspectives.

Format: Articles

Subject: Organizations, Legal, Ethics

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

"The Multi-Dimensional Human Embryo"

The Multi-Dimensional Human Embryo website (http://embryo.soad.umich.edu/) is a publicly accessible online database of the first three-dimensional images and animations of human embryos during different stages of development. Both the images and animations were created using magnetic resonance microscopy and compiled for easy access.

Format: Articles

Subject: Outreach, Organizations

"Presence of Fetal DNA in Maternal Plasma and Serum" (1997), by Dennis Lo, et al.

In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes.

Format: Articles

Subject: Experiments

Benjamin Harrison Willier (1890-1972)

Benjamin Harrison Willier is considered one of the most versatile embryologists to have ever practiced in the US. His research spanned most of the twentieth century, a time when the field of embryology evolved from being a purely descriptive pursuit to one of experimental research, to that of incorporating molecular biology into the research lab. Willier was born on 2 November 1890 near Weston, Ohio to Mary Alice Ricard. He spent his childhood doing farming chores and running the farm while his father, David Willier worked as a banker.

Format: Articles

Subject: People