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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

The Effects of Diethylstilbestrol on Embryonic Development

Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain.

Format: Articles

Subject: Disorders

“HPV in the Etiology of Human Cancer” (2006) by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann

In 2006, the article “HPV in the Etiology of Human Cancer,” hereafter “HPV and Etiology,” by Nubia Muñoz, Xavier Castellsagué, Amy Berrington de González, and Lutz Gissmann, appeared as the first chapter in the twenty-fourth volume of the journal Vaccine. Muñoz and colleagues discuss the role of the Human Papillomavirus, or HPV, in uterine cervical cancers. The authors introduce the mechanisms of HPV infection that lead to genital and non-genital cancers, establishing a link between HPV and multiple human cancers.

Format: Articles

Subject: Disorders, Processes, Technologies

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

Thesis: Socioeconomic and Cultural Ideas of Endometriosis in Low and Middle-Income Countries: A Narrative Literature Review

Endometriosis is a condition characterized by the growth of the endometrium, or the tissue that lines the uterus, outside of the uterus, and it is diagnosed through the presence of endometriotic lesions in the pelvic region. The disease is most often associated with abnormal and painful vaginal bleeding.

Format: Essays and Theses

Subject: Disorders, Places, Outreach

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

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

Developmental Timeline of Alcohol-Induced Birth Defects

Maternal consumption of alcohol (ethanol) during pregnancy can result in a continuum of embryonic developmental abnormalities that vary depending on the severity, duration, and frequency of exposure of ethanol during gestation. Alcohol is a teratogen, an environmental agent that impacts the normal development of an embryo or fetus. In addition to dose-related concerns, factors such as maternal genetics and metabolism and the timing of alcohol exposure during prenatal development also impact alcohol-related birth defects.

Format: Articles

Subject: Disorders, Reproduction

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

Retinoids As Teratogens

Vitamin A (retinol) is an essential vitamin in the daily functioning of human beings that helps regulate cellular differentiation of epithelial tissue. Studies have shown that an excess of vitamin A can affect embryonic development and result in teratogenesis, or the production of birth defects in a developing embryo. Excess intake of vitamin A and retinoids by pregnant women often results malformations to fetuses' skulls, faces, limbs, eyes, central nervous system.

Format: Articles

Subject: Disorders, Reproduction

“Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-to-Child Transmission of HIV...” (2018), by Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe

In 2018, researchers Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe published, “Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-To-Child Transmission of HIV in a sub-Saharan African Region with High Transmission Rate: Some Solutions Proposed,” in BMC Pregnancy and Childbirth.

Format: Articles

Subject: Publications, Reproduction, Disorders

“Neuroendocrine Tumor of the Uterine Cervix: A Therapeutic Challenge for Gynecologic Oncologists” (2017), by Angiolo Gadducci, Silvestro Carinelli, and Giovanni Aletti

In 2017, Angiolo Gadducci, Silvestro Carinelli, and Giovanni Aletti published, "Neuroendocrine Tumor of the Uterine Cervix: A Therapeutic Challenge for Gynecologic Oncologists," hereafter, "Neuroendocrine Tumor" in the journal, Gynecologic Oncology. The authors conducted a systematic review of existing literature that documented the symptoms, diagnosis, staging, treatment, and outcomes of women diagnosed with neuroendocrine tumors, or cervical NETs, which are tumors with cells similar to cells from both the hormonal and the nervous system.

Format: Articles

Subject: Disorders

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

Gestational Diabetes

Gestational diabetes is a medical condition that causes blood sugar levels to become abnormally high, which manifests for the first-time during pregnancy and typically disappears immediately after birth for around ninety percent of affected women. While many women with the condition do not experience any noticeable symptoms, some may experience increased thirst and urination.

Format: Articles

Subject: Reproduction, Disorders

Fetal Surgery

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.

Format: Articles

Subject: Disorders, Ethics, 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

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

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

“The Social and Psychological Impact of Endometriosis on Women’s Lives: A Critical Narrative Review” (2013), by Lorraine Culley, Caroline Law, Nicky Hudson, Elaine Denny, Helene Mitchell, Miriam Baumgarten, and Nicholas Raine-Fenning

In “The Social and Psychological Impact of Endometriosis on Women’s Lives: A Critical Narrative Review,” hereafter “Social and Psychological Impact of Endometriosis,” authors Lorraine Culley, Caroline Law, Nicky Hudson, Elaine Denny, Helene Mitchell, Miriam Baumgarten, and Nicholas Raine-Fenning review the extent at which endometriosis results in a negative quality of life for affected women.

Format: Articles

Subject: Reproduction, Disorders, Publications

Isidore Geoffroy Saint-Hilaire (1805-1861)

Isidore Geoffroy Saint-Hilaire studied anatomy and congenital abnormalities in humans and other animals in nineteenth century France. Under the tutelage of his father, Etienne Geoffroy Saint-Hilaire, Isidore compiled and built on his father's studies of individuals with developmental malformations, then called monstrosities.

Format: Articles

Subject: People, Disorders

Truman William Brophy (1848–1928)

Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth.

Format: Articles

Subject: People, Disorders

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

“On the Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities” (1861), by William John Little

In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity.

Format: Articles

Subject: Disorders, Publications

Pennsylvania Association for Retarded Citizens (PARC) v. Commonwealth of Pennsylvania (1972)

In 1972, the United States District Court for the Eastern District of Pennsylvania decided the case of Pennsylvania Association for Retarded Citizens (PARC) v. Commonwealth of Pennsylvania, hereafter PARC v. Pennsylvania. The court ruled that the state could not deny an individual's right to equal access to education based on an intellectual or developmental disability status. PARC brought the case against the state of Pennsylvania on behalf of fourteen families with intellectually disabled children who were unable to access to public schools based on their child’s disability.

Format: Articles

Subject: Legal, Disorders

Teratogens

Teratogens are substances that may produce physical or functional defects in the human embryo or fetus after the pregnant woman is exposed to the substance. Alcohol and cocaine are examples of such substances. Exposure to the teratogen affects the fetus or embryo in a variety of ways, such as the duration of exposure, the amount of teratogenic substance, and the stage of development the embryo or fetus is in during the exposure.

Format: Articles

Subject: Disorders