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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.
Format: Articles
Subject: Disorders, Reproduction
Role of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a known teratogen, an agent that causes birth defects and acts upon developing embryos through mechanisms that are not yet fully understood.
Format: Articles
Subject: Disorders
Congenital Vertebral Defects
The spinal column is the central structure in the vertebrate body from which stability, movement, and posture all derive. The vertebrae of the spine are organized into four regions (listed in order from cranial to caudal): cervical, thoracic, lumbar, and pelvic. These regions are classified by their differences in curvature. The human spine usually consists of thirty-three vertebrae, seven of which are cervical (C1-C7), twelve are thoracic (T1-T12), five are lumbar (L1-L5), and nine are pelvic (five fused as the sacrum and four fused as the coccyx).
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
Parasitic Twins
Parasitic twins, a specific type of conjoined twins, occurs when one twin ceases development during gestation and becomes vestigial to the fully formed dominant twin, called the autositic twin. The underdeveloped twin is called parasitic because it is only partially formed, is not functional, or is wholly dependent on the autositic twin.
Format: Articles
Subject: Disorders, Reproduction
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
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
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
Mitochondrial Diseases in Humans
Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.
Format: Articles
Subject: Disorders, Reproduction
The Effects of Thalidomide on Embryonic Development
Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. Some of these agents target the embryonic period's "window of susceptibility," three to eight weeks after a pregnant woman's last menstruation, when the highest degree of sensitivity to embryonic cell differentiation and organ formation occurs. The embryonic period or critical period is when most organ systems form, whereas the fetal period, week eight to birth, involves the growth and modeling of the organ systems.
Format: Articles
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
Smith v. Cote (1986)
The case of Smith v. Cote (1986) answered two important questions concerning law and childbirth: does the State of New Hampshire recognize a cause of action for what is defined as wrongful birth, and does the State recognize a cause of action for what is classified as wrongful life? In the case of Smith v. Cote, damages were permitted for wrongful birth, but not for the action of wrongful life.
Format: Articles
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
Fetus in Fetu
Fetus in fetu is a rare variety of parasitic twins , where the developmentally abnormal parasitic twin is completely encapsulated within the torso of the otherwise normally developed host twin. In the late eighteenth century, German anatomist Johann Friedrich Meckel was the first to described fetus in fetu, which translates to “fetus within fetus.” Fetus in fetu is thought to result from the unequal division of the totipotent inner cell mass , the mass of cells that is the ancestral precursor to all cells in the body.
Subject: Theories, Disorders, Reproduction
Anencephaly
Anencephaly is an open neural tube defect, meaning that part of the neural tube does not properly close or that it has reopened during early embryogenesis. An embryo with anencephaly develops without the top of the skull, but retains a partial skull, including the face. Anencephaly is one of the most common birth defects of the neural tube, occurring at a rate of approximately one in one thousand human pregnancies. The condition can be caused by environmental exposure to chemicals, dietary deficiencies, or genetic mutations.
Format: Articles
Subject: Disorders, Reproduction
“Maternal Stress Responses and Anxiety During Pregnancy: Effects on Fetal Heart Rate” (2000), by Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado
In 2000, Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado published “Maternal stress responses and anxiety during pregnancy: Effects on fetal heart rate,” in which the authors conducted a study on how pregnant women’s stress and anxiety affects the health of their fetuses. Previous studies had shown that stress and anxiety during pregnancy could cause fetal abnormalities.
Format: Articles
Subject: Publications, Disorders
“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.
Format: Articles
Subject: Theories, Reproduction, Publications, Disorders
“Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective” (2011), by Vivette Glover
In 2011, fetal researcher Vivette Glover published “Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective,” hereafter, “Prenatal Stress and the Origins of Psychopathology,” in the Journal of Child Psychology and Psychiatry. In that article, Glover explained how an evolutionary perspective may be useful in understanding the effects of fetal programming. Fetal programming is a hypothesis that attempts to explain how factors during pregnancy can affect fetuses after birth.
Format: Articles
Subject: Theories, Reproduction, Disorders
Emma Wolverton (1889–1978)
Emma Wolverton, also known as Deborah Kallikak, lived her entire life in an institution in New Jersey after psychologist Henry Goddard classified her as feeble-minded. He also wrote a book about Wolverton and her family that psychiatrists previously used to show that intellectual disability is hereditary. At the time, researchers in the psychology field, including Goddard, were working to understand differences in people’s intellectual abilities. They used the term feeble-minded to refer to those they described as having lower intellectual functioning.
Format: Articles
Thesis: Leo Kanner and the Psychobiology of Autism
This thesis illustrates that Kanner held an explicitly descriptive frame of reference toward his eleven child patients, their parents, and autism. Adolf Meyer, his mentor at Johns Hopkins, trained him to make detailed life-charts under a clinical framework called psychobiology. By understanding that Kanner was a psychobiologist by training, I revisit the original definition of autism as a category of mental disorder and restate its terms.
Format: Essays and Theses
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
Thesis: From Monsters to Medicine: A Historical Analysis of Changes in the Field of Teratology Over the Twentieth Century
This project focuses on the history of how teratogens, or agents which have the potential to cause birth defects, have been understood and tested for teratogenic potential in the US over the twentieth century. Prior to this time, teratogen studies were primarily concerned with cataloguing defects rather than exploring possible causes. At the turn of the twentieth century, experimental teratogen studies with the aim of elucidating mechanisms commenced.
Format: Essays and Theses
Subject: Disorders
“Epidemiology of Surgically Managed Pelvic Organ Prolapse and Urinary Incontinence” (1997), by Ambre L. Olsen, Virginia J. Smith, John O. Bergstrom, Joyce C. Colling, and Amanda L. Clark
In 1997, physicians and researchers Ambre Olsen, Virginia Smith, John Bergstrom, Joyce Colling, and Amanda Clark published, “Epidemiology of Surgically Managed Pelvic Organ Prolapse and Urinary Incontinence,” in the journal Obstetrics and Gynecology. In their article, the authors retrospectively analyzed data from patients who underwent surgery for pelvic organ prolapse or urinary incontinence two years prior in 1995. Often due to a weakening of or damage to their pelvic muscles, women with pelvic organ prolapse can experience a descent of pelvic organs into the lower pelvis and vagina.
Format: Articles
Subject: Publications, Disorders
“Pelvic Organ Prolapse” (2007), by John E. Jelovsek, Christopher Maher, and Matthew D. Barber
In 2007, physicians John Jelovsek, Christopher Maher, and Matthew Barber published, “Pelvic Organ Prolapse,” in The Lancet. In their article, Jelovsek and colleagues provided an overview of pelvic organ prolapse in women and described the epidemiology, risk factors, symptoms, and management of the condition. Pelvic organ prolapse occurs when a woman’s pelvic floor is weakened or damaged from stress or trauma such as vaginal childbirth.
Format: Articles
Subject: Publications, Disorders