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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
Neonatal Jaundice
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.
Format: Articles
Subject: Disorders
“Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function” (2007), by Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis
In 2007, Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis published “Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function,” hereby “Diabetes Mellitus: Implications,” in the journal Human Reproduction. In their article, the authors explore the effects of elevated blood sugar in the form of diabetes mellitus on the quality of male sperm.
Format: Articles
Subject: Publications, 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
“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
“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
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
Studies of Thalidomide's Effects on Rodent Embryos from 1962-2008
Thalidomide is a sedative drug introduced to European markets on 1 October 1957 after extensive testing on rodent embryos to ensure its safety. Early laboratory tests in rodent populations showed that pregnant rodents could safely use it, so doctors prescribed Thalidomide to treat morning sickness in pregnant women. However, in humans Thalidomide interfered with embryonic and fetal development in ways not observed in rodent tests.
Format: Articles
Subject: Organisms, Reproduction, Disorders
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
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
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
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
Conjoined Twins
Conjoined twins are twins whose bodies are anatomically joined in utero. The degree to which the twins are attached can range from simple, involving skin and cartilage, to complex, including fusion of the skull(s), brain(s), or other vital organs. There are more than a dozen classifications of conjoined twins but what they all tend to have in common is the sharing of the chorion, placenta, and amniotic sac.
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
Neural Tube Defects (NTD): Folic Acid and Pregnancy
In the US, one in 1000 births is affected by neural tube defects (NTD). A neural tube defect is a birth defect involving the malformation of body features associated with the brain and spinal cord. An NTD originates from and is characterized by incomplete closure of the neural tube, which is an organizer and precursor of the central nervous system.
Format: Articles
Subject: Disorders, Reproduction
Amenorrhea as a Menstrual Disorder
Amenorrhea is considered a type of abnormal menstrual bleeding characterized by the unexpected absence of menstrual bleeding, lasting three months or longer. Menstrual bleeding typically happens approximately once a month when blood and endometrial tissue, or tissue lining the inside of the uterus, sheds from the uterus through the vagina. Menstruation is expected to stop with pregnancy, breastfeeding, and menopause, or the natural cessation of the menstrual cycle at an older age.
Format: Articles
Subject: Disorders, Reproduction
The Effects of Bisphenol A on Embryonic Development
Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats.
Format: Articles
Subject: Disorders, Reproduction
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
Dysmenorrhea as a Menstrual Disorder
Dysmenorrhea refers to painful menstrual bleeding and often includes symptoms such as cramps in the lower abdominal region, pain radiating down to the thighs, nausea and vomiting, diarrhea, fatigue, and headaches. There are two types of dysmenorrhea, called primary and secondary dysmenorrhea, which develop in different ways. In cases of primary dysmenorrhea, people experience painful cramps before and during most of their menstrual cycles, which does not happen as a result of a different underlying condition and is mostly due to hormone imbalances.
Format: Articles
World Health Organization Guidelines (Option A, B, and B+) for Antiretroviral Drugs to Treat Pregnant Women and Prevent HIV Infection in Infants
To address the international Human Immunodeficiency Virus epidemic, the World Health Organization, or WHO, developed three drug treatment regimens between 2010 and 2012 specifically for HIV-positive pregnant women and their infants. WHO developed the regimens, calling them Option A, Option B, and Option B+, to reduce or prevent mother-to-child, abbreviated MTC, transmission of HIV. Each option comprises of different types and schedules of antiretroviral medications. As of 2018, WHO reported that in Africa alone about 1,200,000 pregnant women were living with untreated HIV.
Format: Articles
Subject: Reproduction, Processes, Disorders
Orchiopexy
Orchiopexy, also known as orchidopexy, is a surgical technique that can correct cryptorchidism and was successfully performed for one of the first times in 1877 in Scotland. Cryptorchidism, a condition where one or both of the testicles fail to descend before birth, is one of the most common male genital birth defects, affecting approximately 2 to 8 percent of full-term male infants, and around 33 percent of premature infants. Typically in the womb, male testes form within the abdomen, then descend into the scrotal area between twenty-five to thirty-five weeks’ gestation.
Format: Articles
Subject: Technologies, Disorders, Reproduction
United States v. Georgia (2006)
In United States v. Georgia, the United States Supreme Court held, in a unanimous decision, that the rights protected under the Americans with Disabilities Act, or the ADA, extended to inmates held in state prisons. The Court also abolished sovereign immunity in cases where the Eighth Amendment is involved. The case came about as a result of Tony Goodman, a paraplegic man in a Georgia state prison, who attempted to sue the state under Title II of the ADA.
Format: Articles
Corpus Callosum Defects Associated with Fetal Alcohol Syndrome
Prenatal exposure to alcohol (ethanol) can result in a continuum of developmental abnormalities that are highly variable depending on the severity, duration, frequency, and timing of exposure during gestation. Defects of the corpus callosum (CC) have proven to be a reliable indicator of prenatal alcohol exposure as it affects the brain. Structural abnormalities of the CC occur along a continuum, like most alcohol-induced anomalies, whereby more severe prenatal exposure results in a greater expression of the abnormal trait.
Format: Articles
Subject: Disorders, Reproduction