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VACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. "VACTERL" is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects.
Sir Graham Collingwood Liggins (1926-2010)
Sir Graham Collingwood Liggins devoted much of his professional life to obstetric research. Liggins demonstrated that hormones created by the fetus helped initiate labor, rather than hormones originating solely from the mother. Liggins also discovered that cortisol given to pregnant mothers helped delay premature labor, and that it increased the likelihood that premature infants would breathe normally after birth. Prior to cortisol treatment, premature infants often died of respiratory distress syndrome characterized by the inability to inflate immature lungs.
Subject: People, Reproduction
Hans Asperger (1906-1980)
Hans Asperger studied mental abnormalities in children in
Vienna, Austria, in the early twentieth century. Asperger was one of
the early researchers who studied the syndrome that was later named
after him, Asperger's Syndrome. Asperger described the syndrome in
his 1944 publication Die Autistischen Psychopathen im
Kindesalter (Autistic Psychopathy in Childhood). At that time,
the syndrome was called autistic psychopathy, and Asperger noted
that characteristics of the syndrome included lack of sympathy,
“Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children” (2009), by Hannah Cookson, Raquel Granell, Carol Joinson, Yoav Ben-Shlomo, and A. John Henderson
In 2009, A. John Henderson and colleagues published “Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children,” hereafter, “Mothers’ Anxiety,” in The Journal of Allergy and Clinical Immunology. Previous studies had shown that maternal stress during pregnancy affects children’s health during childhood. The researchers explored the association of asthma in children with maternal anxiety during pregnancy. The cause of asthma is often unknown.
Subject: Theories, Reproduction, Publications, Disorders
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.
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.
Leo Kanner (1894-1981)
Leo Kanner studied and described early infantile autism in humans in the US during the twentieth century. Though Eugen Bleuler first coined the term autism in 1910 as a symptom of schizophrenia, Kanner helped define autism as a disease concept separate from schizophrenia. He helped found an early child psychiatry department in 1930 at the Johns Hopkins University Hospital in Baltimore, Maryland.
Leonard Hayflick (1928- )
Leonard Hayflick studied the processes by which cells age during the twentieth and twenty-first centuries in the United States. In 1961 at the Wistar Institute in the US, Hayflick researched a phenomenon later called the Hayflick Limit, or the claim that normal human cells can only divide forty to sixty times before they cannot divide any further. Researchers later found that the cause of the Hayflick Limit is the shortening of telomeres, or portions of DNA at the ends of chromosomes that slowly degrade as cells replicate.
US Regulatory Response to Thalidomide (1950-2000)
Thalidomide, a drug capable of causing fetal abnormalities (teratogen), has caused greater than ten thousand birth defects worldwide since its introduction to the market as a pharmaceutical agent. Prior to discovering thalidomide's teratogenic effects in the early 1960s, the US Food and Drug Administration (FDA) did not place regulations on drug approval or monitoring as it later did. By 1962, approximately 20,000 patients in the US had taken thalidomide as part of an unregulated clinical trial before any actions were taken to stop thalidomide's distribution.
Subject: Legal, Reproduction
“Perimortem Cesarean Delivery” (1986), by Vern Katz, Deborah Dotters, and William Droegemueller
In 1986, Vern L. Katz, Deborah J. Dotters, and William Droegemueller published “Perimortem Cesarean Delivery,” an article in which they developed the Four Minute Rule for perimortem cesarean sections. The Four Minute Rule states that if a pregnant woman’s heart stops beating, physicians should begin an operation to deliver the fetus within four minutes and aim to have the fetus delivered within five minutes of cardiac arrest.
Michael R. Harrison (1943– )
Michael R. Harrison worked as a pediatric surgeon in the US throughout the late-twentieth century and performed many fetal surgeries, including one of the first successful surgeries on a fetus in utero, or while it is still in its gestational carrier’s body, also called open fetal surgery. A fetus is an organism developing inside of the uterus that is anywhere from eight weeks old to birth. Harrison hypothesized that open fetal surgery could correct developmental defects that may become fatal to the fetus at birth.
Norbert Freinkel (1926–1989)
During the twentieth century, Norbert Freinkel studied hormones and diabetes in the US. Freinkel conducted many experiments that enabled him to determine the factors that influence hormones of the thyroid gland to bind to proteins and to determine the effects that those thyroid hormones have on surrounding tissues. Furthermore, Freinkel researched gestational diabetes, which is diabetes that occurs for the first time during a women’s pregnancy. That type of diabetes is caused by a change in the way a woman’s body responds to insulin, a hormone made in the body.
Annie Dodge Wauneka (1910-1997)
Annie Dodge Wauneka, a member of the Navajo Tribal Council in Window Rock, Arizona, from 1951 to 1978, advocated for improved lifestyle, disease prevention, and access to medical knowledge in the Navajo Indian Reservation, later renamed the Navajo Nation. Wauneka served as chair of the Health and Welfare Committee of the Navajo Tribal Council and as a member of the US Surgeon General’s Advisory Committee on Indian Health. Wauneka advocated for initiatives aimed at promoting education, preventing tuberculosis, and reducing the infant mortality rate.
Arthur Earl Walker (1907-1995)
Arthur Earl Walker was a medical researcher and physician who studied the brain and neurosurgery in the United States during the twentieth century. Walker examined the connections of the thalamus to the rest of the brain and how the thalamus coordinates sensory signals. The thalamus is a cluster of nerve cells located between the two hemispheres of the brain and it is responsible for consciousness and sensory interpretation.
Walter Edward Dandy (1886-1946)
Walter Edward Dandy studied abnormalities in the developing human brain in the United States in the twentieth century. He collaborated with pediatrician Kenneth Blackfan to provide the first clinical description of Dandy-Walker Syndrome, a congenital brain malformation in which the medial part of the brain, called the cerebellar vermis, is absent. Dandy also described the circulation of cerebral spinal fluid, the clear, watery fluid that surrounds and cushions the brain and spinal cord.
"Transfer of Fetal Cells with Multilineage Potential to Maternal Tissue" (2004), by Kiarash Khosrotehrani et al.
In 2004, a team of researchers at Tufts-New England
Medical Center in Boston, Massachusetts, investigated the fetal
cells that remained in the maternal blood stream after pregnancy.
The results were published in Transfer of Fetal Cells with
Multilineage Potential to Maternal Tissue. The team working on that
research included Kiarash Khosrotehrani, Kirby L. Johnson, Dong
Hyun Cha, Robert N. Salomon, and Diana W. Bianchi. The researchers
reported that the fetal cells passed to a pregnant woman during
Subject: Experiments, Reproduction
"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.
In humans, multi-fetal pregnancy occurs when a mother carries more than one fetus during the pregnancy. The most common multi-fetal pregnancy is twins, but mothers have given birth to up to eight children (octuplets) from a single pregnancy. Multiple fetusus can result from the release of multiple eggs or multiple ovulations, the splitting of a single fertilized egg, and fertility treatments such as in vitro fertilization (IVF) which involves the insertion of many fertilized eggs into the mother's uterus.
Subject: Processes, Reproduction
The Measles, Mumps, and Rubella (MMR) Vaccine
The measles, mumps, and rubella (MMR) vaccine was created by Maurice Hilleman in 1971 at the Merck Institute of Therapeutic Research, a pharmaceutical company in West Point, Pennsylvania. It combined three separate vaccines for measles, mumps, and rubella, common and sometimes fatal diseases. Measles causes a red skin rash and severe fevers that can be fatal. Mumps causes fever and swelling of the salivary glands in the mouth and jaw, while rubella causes milder fevers and skin rashes.
“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.
Cord Blood Banking
Cord blood banks are institutions designed to store umbilical cord blood (UCB) stem cells. UCB, a source of hematopoietic stem cells (HSCs), has garnered attention from scientific and medical communities since its first successful use in a hematopoietic stem cell transplant (HSCT) in 1988. The umbilical cord is the lifeline by which the growing fetus is nourished by the mother. Once regarded as medical waste, the umbilical cord has become a source of lifesaving treatment.
Subject: Technologies, Reproduction
David Baltimore (1938– )
David Baltimore studied viruses and the immune system in the US during the twentieth century. In 1975, Baltimore was awarded the Nobel Prize in Physiology or Medicine for discovering reverse transcriptase, the enzyme used to transfer information from RNA to DNA. The discovery of reverse transcriptase contradicted the central dogma of biology at the time, which stated that the transfer of information was unidirectional from DNA, RNA, to protein.
Forbes v. Napolitano (2000)
Forbes v. Napolitano (2000) was a US court case that established that Arizona researchers could use fetal tissues from induced abortions for basic scientific research, for instance, as a source of stem cells. The case challenged the constitutionality of the Arizona Revised Statute (ARS) 36-2303 in the Ninth Circuit US Court of Appeals, a law that banned researchers from using fetal tissues from abortions for any type of medical experimentation or investigation. The Ninth Circuit US Court of Appeals decision in Forbes v.
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.
Symptoms Associated with Polycystic Ovarian Syndrome (PCOS)
Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age.