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Dandy-Walker Syndrome
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.
Format: Articles
Subject: Disorders
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
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.
Format: Articles
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
Subject: Reproduction
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.
Format: Articles
Subject: 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
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
VACTERL Association
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.
Format: Articles
Subject: Disorders
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.
Format: Articles
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.
Format: Articles
Subject: Disorders
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,
Format: Articles
Subject: People
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
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.
Format: Articles
Subject: Disorders
Fetal Alcohol Syndrome (FAS)
The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy. The alcohol-induced defects include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing central nervous system (CNS).
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
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.
Format: Articles
Subject: Disorders, Reproduction
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.
Format: Articles
Subject: People
Pre- and Post-natal Growth Deficiencies and Fetal Alcohol Syndrome
Maternal consumption of alcohol (ethanol) during pregnancy can inhibit prenatal growth, resulting in fetuses that are small for gestational age. Those prenatal growth deficiencies can have lasting consequences for early childhood development and are often reflected by low weight and stature. Those alcohol-induced pre- and post-natal growth deficiencies ("failure to thrive") are among the abnormal developmental criteria used to identify Fetal Alcohol Syndrome (FAS). FAS is characterized by minor facial abnormalities and deficiencies of the central nervous system as well.
Format: Articles
Subject: Disorders
Facial Abnormalities of Fetal Alcohol Syndrome (FAS)
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system. The pattern of facial defects that occur as a result of ethanol exposure during development primarily affects the midline of the face, altering morphology of the eyes, nose, and lips.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Cardiac Development
A variety of developmental defects occur as a result of prenatal exposure to alcohol (ethanol) in utero. In humans, those defects are collectively classified as Fetal Alcohol Spectrum Disorders, with Fetal Alcohol Syndrome (FAS) representing the more severe defects. FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). In addition to those defects, prenatal exposure to alcohol impacts cardiogenesis, the developmental stage of heart formation.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Ocular Development
Maternal consumption of alcohol (ethanol) can result in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The eye and ocular system development is particularly susceptible to the effects of prenatal alcohol exposure and can result in visual impairment or blindness.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Basal Ganglia Development
Prenatal exposure to alcohol (ethanol) in human and animal models results in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The basal ganglia, one of the central nervous system components, are affected by exposure to ethanol during development.
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Cerebellum Development
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading fetal alcohol spectrum disorders (FASD). Fetal alcohol syndrome (FAS) is the most severe combination of these defects under this heading, and is characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system (CNS).
Format: Articles
Subject: Disorders, Reproduction
Effects of Prenatal Alcohol Exposure on Central Nervous System Development
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). The CNS is particularly vulnerable to the effects of ethanol during prenatal development.
Format: Articles
Subject: Disorders, Reproduction