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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
“Effect of Vaginal Sildenafil on the Outcome of In Vitro Fertilization (IVF) After Multiple IVF Failures Attributed to Poor Endometrial Development” (2002), by Geoffrey Sher and Jeffrey Fisch
Researchers Geoffrey Sher and Jeffrey Fisch gave Viagra, also known as sildenafil, to women undergoing fertility treatment to test whether the medication could improve fertility and pregnancy rates. The researchers proposed that Viagra, typically indicated to treat erectile dysfunction in men, would help women with a history of failed past fertility treatments by thickening their endometrial lining, which is the layer of tissue in the uterus where an embryo implants during pregnancy.
Format: Articles
Subject: Experiments, Reproduction, Disorders
Hydrocephalus During Infancy
Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death.
Format: Articles
Subject: Disorders
“Levator Trauma is Associated with Pelvic Organ Prolapse” (2008), by Hans P. Dietz and Judy M. Simpson
Hans Peter Dietz and Judy Simpson published, “Levator Trauma is Associated with Pelvic Organ Prolapse,” in the journal BJOG: An International Journal of Obstetrics and Gynecology in 2008. In their article, Dietz and Simpson estimated the risk of pelvic organ prolapse in women who attained injuries to the pelvic levator muscles. The levator muscles, also known as the levator ani, are a major muscle group that comprise the pelvic floor. Along with other muscles, the pelvic floor supports organs in a woman’s pelvis, such as the bladder, uterus, and rectum.
Format: Articles
Subject: Publications, 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
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
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
“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.
Format: Articles
Subject: Publications, 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
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
Merck & Company's Development of Gardasil
In 2006, the United States branch of Merck & Co. received FDA approval for Gardasil, a human papillomavirus, or HPV, vaccine that protects against HPV and the cervical cancer that can come with it. In 1891, George F. Merck founded the US branch of the company to distribute chemicals with high purity for use in research, in New York City, New York, and other areas nearby. HPV is a common sexually transmitted infection that can cause genital warts, regular skin warts, cervical cancer, and other cancers.
Format: Articles
Subject: Organizations, People, Technologies, Disorders
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
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
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
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
Agent Orange Birth Defects
Sprayed extensively by the US military in Vietnam, Agent Orange contained a dioxin contaminant later found to be toxic to humans. Despite reports by Vietnamese citizens and Vietnam War veterans of increased rates of stillbirths and birth defects in their children, studies in the 1980s showed conflicting evidence for an association between the two. In 1996, the US National Academy of Sciences reported that there was evidence that suggested dioxin and Agent Orange exposure caused spina bifida, a birth defect in which the spinal cord develops improperly.
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
Teratomas
Teratomas are embryonal tumors that normally arise from germ cells and are typically benign. They are defined as being composed either of tissues that are foreign to the area in which they form, or of tissues that derive from all three of the germ layers. Malignant teratomas are known as teratocarcinomas; these cancerous growths have played a pivotal role in the discovery of stem cells. "Teratoma" is Greek for "monstrous tumor"; these tumors were so named because they sometimes contain hair, teeth, bone, neurons, and even eyes.
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
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
Agent Orange as a Cause of Spina Bifida
Spina bifida is a birth defect that affects the spines of developing fetuses and infants, and research in the 20th century indicated that chemicals in the herbicide Agent Orange likely lead to the birth defect. People with spina bifida can have nerve damage, paralysis, and mental disabilities. During the Vietnam War in the 1960s, the US military employed Agent Orange and other herbicides to destroy enemy crops and forest cover until 1970.
Format: Articles
Subject: Disorders
Jeffrey Weinzweig's Experiments on In Utero Cleft Palate Repair in Goats (1999-2002)
Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb.
Format: Articles
Subject: Experiments, 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
Mills v. Board of Education of District of Columbia (1972)
In Mills v. Board of Education of District of Columbia (1972), the United States District Court for the District of Columbia held that students with disabilities are entitled to an education, and that education cannot be denied based on the accommodations’ additional cost to the school. Mills was a class action lawsuit brought to the court on behalf of seven children denied public education by the District of Columbia School District because of their disabilities and the cost of accommodations the school would incur to educate them.
Format: Articles
Olmstead v. L.C. (1999)
In the 1999 case Olmstead v. L.C., hereafter Olmstead, the United States Supreme Court held in a six to three decision that the forced segregation of people based on disability violated the Americans with Disabilities Act. Two women with mental and intellectual disabilities, Lois Curtis and Elaine Wilson, referred to as L.C. and E.W. in case documents, sued the state of Georgia and Tommy Olmstead, the Commissioner of Georgia who headed the Department of Human Resources, for alleged violations of the Americans with Disabilities Act.
Format: Articles