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Twin-to-Twin Transfusion Syndrome
Twin-to-Twin Transfusion Syndrome (TTTS) is a rare placental disease that can occur at any time during pregnancy involving identical twins. TTTS occurs when there is an unequal distribution of placental blood vessels between fetuses, which leads to a disproportionate supply of blood delivered. This unequal allocation of blood leads to developmental problems in both fetuses that can range in severity depending on the type, direction, and number of interconnected blood vessels.
Subject: Disorders, Reproduction
Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages.
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.
Subject: Reproduction, Disorders, Ethics
National Association for Down Syndrome (1960–)
The National Association for Down Syndrome, or NADS, is an organization that was founded in 1960 by Kathryn McGee in Chicago, Illinois, to support people with Down syndrome and their families in improving their quality of life. Originally named the Mongoloid Developmental Council, NADS is one of the oldest organizations serving people with Down syndrome and their families in the United States. According to NADS, Down syndrome is a genetic condition that occurs in one in every seven hundred ninety-two people and that causes delays in physical and intellectual development.
Subject: Disorders, Organizations, People, Ethics
Thesis: The Genesis of Premenstrual Syndrome (PMS)
This is a project about medicine and the history of a condition called premenstrual syndrome (PMS), its “discovery” and conceptual development at both scientific and socio-cultural levels. Since it was first mentioned in medical literature, PMS has been explored empirically as a medical condition and conceptually as a non-somatic cultural phenomenon. Many attempts have been made to produce scientific, empirical evidence to bolster the theory of PMS as a biological disease.
Format: Essays and Theses
Ovarian Hyperstimulation Syndrome (OHSS) Caused by Fertility Treatment
Ovarian hyperstimulation syndrome, abbreviated OHSS, is an atypical reaction that women may experience in response to excessive hormones, and often occurs during fertility treatments. OHSS is typically triggered by hormonal medications designed to mature eggs in the ovaries, which can cause blood vessels within the ovaries to leak fluid. Sometimes that can lead to painful tenderness or swelling. In severe cases of OHSS, that fluid can leak into the abdominal cavity in large amounts, causing vomiting, blood clots, and severe pain.
Fetal surgeries are a range of medical interventions performed in utero on the developing fetus of a pregnant woman to treat a number of congenital abnormalities. The first documented fetal surgical procedure occurred in 1963 in Auckland, New Zealand when A. William Liley treated fetal hemolytic anemia, or Rh disease, with a blood transfusion.
Subject: Disorders, Ethics, Reproduction
Dissertation: Fetal Risk, Federal Response: How Fetal Alcohol Syndrome Influenced the Adoption of Alcohol Health Warning Labels
In the fifteen years between the discovery of fetal alcohol syndrome, or FAS, in 1973 and the passage of alcohol beverage warning labels in 1988, FAS transformed from a medical diagnosis between practitioner and pregnant women to a broader societal risk imbued with political and cultural meaning. In this dissertation, I examine how scientific, social, moral, and political narratives dynamically interacted to construct the risk of drinking during pregnancy and the public health response of health warning labels on alcohol.
Format: Essays and Theses
Subject: Disorders, Reproduction, Legal
Neonatal jaundice is the yellow discoloration of the skin and eyes due to elevated bilirubin levels in the bloodstream of a newborn. Bilirubin is a byproduct of the breakdown of red blood cells. Jaundiced infants are unable to process bilirubin at a normal rate or they have an abnormally high amount of bilirubin in their bloodstream, resulting in a buildup of the yellow colored bilirubin. That build up is called hyperbilirubinemia and is the cause of jaundice.
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.
Albert William Liley (1929–1983)
Albert William Liley advanced the science of fetal physiology and the techniques of life-saving in utero blood transfusions for fetuses with Rh incompatibility, also known as hemolytic disease. Due to his advances, fetuses too young to survive premature delivery, and likely to die in utero if their Rh incompabilities were left untreated, were successfully transfused and carried to term. Liley was as passionate as a clinician and researcher as he was about his views on the rights of the unborn.
Subject: People, Reproduction
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.
Ethics of Fetal Surgery
Surgeons sometimes operate on the developing fetuses in utero of pregnant women as a medical intervention to treat a number of congential abnormalities, operations that have ethical aspects. A. William Liley performed the first successful fetal surgery, a blood transfusion, in New Zealand in 1963 to counteract the effects of hemolytic anemia, or Rh disease.
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
Exchange Transfusion for Jaundiced Newborns in the United States
Exchange transfusion is the replacement of blood from newborn infants with elevated bilirubin level in their blood stream with donor blood containing normal bilirubin levels. Newborn infants that experience jaundice, the yellowing of the skin and eyes, have a buildup of bilirubin, a chemical that occurs during red blood cell breakdown, or hemolysis. Exchange transfusion is a therapy developed throughout the 1940s by Louis Diamond and a group of surgeons at the Children’s Medical Center in Boston, Massachusetts.
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.
William Stewart Halsted (1852-1922)
William Stewart Halsted was a surgeon at Johns Hopkins Hospital in Baltimore, Maryland, during the late 1800s and early 1900s. In 1894 Halsted described his procedure for treating breast cancer by removing the breast tissue, chest muscles, and lymph nodes in the armpit, a procedure he named radical mastectomy, and that became the standard of care for treating breast cancer until 1970.
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
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.
The Discovery of Fetal Alcohol Syndrome
The term Fetal Alcohol Syndrome (FAS) was first published in 1973 in an article published in the British medical journal The Lancet. In that article, a group of pediatricians and psychiatrists at the University of Washington Medical School helped to define the morphological defects and developmental delays that can affect children born to alcoholic mothers. Those observations include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing brain that can result in behavioral, learning, and cognitive abnormalities.
Subject: Disorders, Reproduction
Neonatal Respiratory Distress Syndrome and Its Treatment with Artificial Surfactant
Neonatal respiratory distress syndrome, previously called hyaline membrane disease, is a respiratory disease affecting premature newborns. Neonatal respiratory distress syndrome involves shallow breathing, pauses between breaths that last a few seconds, or apnea, and a bluish tinge to the infant’s skin. The syndrome occurs when microscopic sacs called alveoli in infant lungs do not produce surfactant, a liquid that coats the inside of the lungs and helps them inflate during breathing.
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,
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.
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.