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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.
Subject: Disorders, Reproduction
"The Role of Maternal Mitochondria during Oogenesis, Fertilization and Embryogenesis" (2002), by James M. Cummins
James M Cummins published 'The Role of Maternal Mitochondria during Oogenesis, Fertilization and Embryogenesis' 30 January 2002 in Reproductive BioMedicine Online. In the article, Cummins examines the role of the energy producing cytoplasmic particles, or organelles called mitochondria. Humans inherit mitochondria from their mothers, and mechanisms have evolved to eliminate sperm mitochondria in early embryonic development. Mitochondria contain their own DNA (mtDNA) separate from nuclear DNA (nDNA).
"On the Origin of Mitosing Cells" (1967), by Lynn Sagan
On the Origin of Mitosing Cells by Lynn Sagan appeared in the March 1967 edition of the Journal of Theoretical Biology. At the time the article was published, Lynn Sagan had divorced astronomer Carl Sagan, but kept his last name. Later, she remarried and changed her name to Lynn Margulis, and will be referred to as such throughout this article. In her 1967 article, Margulis develops a theory for the origin of complex cells that have enclosed nuclei, called eukaryotic cells.
Subject: Publications, Theories
Environment and Birth Defects (1973), by James G. Wilson
Environment and Birth Defects by James Graves Wilson in the US was published in 1973. The book summarized information on the causes of malformations in newborns and aimed to acquaint policy makers with Wilson's suggestions for predicting the risks of environmental causes of birth defects, called teratogens. Wilson also provided six principles for researching teratogens, a framework revised from his 1959 article Experimental Studies on Congenital Malformations. The book has ten chapters.
Ontogeny and Phylogeny (1977), by Stephen Jay Gould
Ontogeny and Phylogeny is a book published in 1977, in which the author Stephen J. Gould, who worked in the US, tells a history of the theory of recapitulation. A theory of recapitulation aims to explain the relationship between the embryonic development of an organism (ontogeny) and the evolution of that organism's species (phylogeny). Although there are several variations of recapitulationist theories, most claim that during embryonic development an organism repeats the adult stages of organisms from those species in it's evolutionary history.
Copper Intrauterine Device (IUD)
The copper intrauterine device, or IUD, is a long-term, reversible contraceptive first introduced by Howard Tatum and Jamie Zipper in 1967. Health care providers place an IUD inside a woman’s uterus to prevent pregnancy. Copper IUDs are typically made of T-shaped plastic with some portion covered with exposed copper. Prior to the invention of the first IUDs, women had few long-term options for safe and reliable birth control. Those options mostly consisted of barrier methods and the oral birth control pill, which were only effective if used correctly and consistently.
Hormone Releasing Intrauterine Devices
Hormone releasing intrauterine devices or hormonal IUDs are contraceptive devices placed in a woman’s uterus to prevent pregnancy by continuously releasing a low dose of certain hormones. Jouri Valter Tapani Luukkainen, a medical researcher at the University of Helsinki, introduced the first hormonal IUD in 1976. Luukkainen’s IUD was a plastic device shaped like a capital T.
“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.
Subject: Experiments, Reproduction, Disorders
Human Papillomavirus (HPV) Strains 16 and 18
The Human Papillomavirus (HPV) strains 16 and 18 are the two most common HPV strains that lead to cases of genital cancer. HPV is the most commonly sexually transmitted disease, resulting in more than fourteen million cases per year in the United States alone. When left untreated, HPV leads to high risks of cervical, vaginal, vulvar, anal, and penile cancers. In 1983 and 1984 in Germany, physician Harald zur Hausen found that two HPV strains, HPV-16 and HPV-18, caused cervical cancer in women. In the early twenty first century, pharmaceutical companies Merck & Co.
The NuvaRing is a self-administered hormonal contraceptive device in the form of a flexible plastic ring that is inserted into the vagina. It releases the hormones etonogestrel and ethinylestradiol, which are synthetic forms of the female reproductive hormones progesterone and estrogen, respectively. The pharmaceutical company Organon first made NuvaRing in the Netherlands in 1980s. The Netherlands first approved it for use in February of 2001, and the United States did the same in October of that year.
Subject: Technologies, Reproduction, Legal
Doe v. Bolton (1973)
In the 1973 court case Doe v. Bolton, the US Supreme Court in Washington, D.C., ruled that a Georgia law regulating abortion was unconstitutional. The Georgia abortion law required women seeking abortions to get approval for the procedure from their personal physician, two consulting physicians, and from a committee at the admitting hospital. Furthermore, under the statutes, only women who had been raped, whose lives were in danger from the pregnancy, or who were carrying fetuses likely to be seriously, permanently malformed were permitted to receive abortions.
Subject: Legal, Reproduction
Planned Parenthood v. Danforth (1976)
On 1 July 1976, the US Supreme Court decided in the case Planned Parenthood v. Danforth that provisions of a Missouri law regulating abortion care were unconstitutional. That law, House Bill 1211, restricted abortion care by requiring written consent for each abortion procedure from the pregnant woman as written consent of the woman’s husband if she was married, or the written consent of her parents if she was unmarried and younger than eighteen. House Bill 1211 also required that physicians make efforts to preserve the lives of aborted fetuses.
Elizabeth Dexter Hay (1927–2007)
Elizabeth Dexter Hay studied the cellular processes that affect development of embryos in the US during the mid-twentieth and early twenty-first centuries. In 1974, Hay showed that the extracellular matrix, a collection of structural molecules that surround cells, influences cell behavior. Cell growth, cell migration, and gene expression are influenced by the interaction between cells and their extracellular matrix.
Ann Trow (Madame Restell) (1812–1878)
Self-proclaimed female physician Ann Trow was a women’s reproductive health specialist as well as an abortion provider in New York City, New York during the mid 1800s. Though she had no formal medical training or background, Trow provided women with healthcare and abortions under the alias Madame Restell. Restell gained attention across the United States for her career as a professional abortionist during a time when abortions were highly regulated and punishable with imprisonment. Restell was tried numerous times for carrying out abortions.
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.
Kass v. Kass (1998)
In Maureen Kass v. Steven Kass (1998), the Court of Appeals of New York in Albany, New York, ruled that the state should generally consider IVF consent forms signed by participants in an in vitro fertilization (IVF) program valid, binding, and enforceable in the event of a dispute. The court indicated that decisions regarding the handling of cryopreserved pre-zygotes, often called preembryos, contained within these consent forms should be upheld.
Christian Peeters and Bert Hölldobler's Experiments on Reproduction in Indian Jumping Ants (1991–1994)
Between 1991 and 1994, Christian Peeters and Bert Hölldobler studied the reproductive behaviors of the Indian jumping ant (Harpegnathos saltator), a species native to southern India. They conducted experiments as part of a larger investigation into conflict and reproductive behavior among ants. Peeters and Hölldobler discovered that Indian jumping ant colonies contained both sexually reproductive workers and egg-laying queens. In most other species of ant, the queens are the only sexually reproductive individuals.
Serial Cultivation of Human Diploid Cells in the Lab (1958–1961) by Leonard Hayflick and Paul S. Moorhead
From 1958 to 1961, Leonard Hayflick and Paul Moorhead in the US developed a way in the laboratory to cultivate strains of human cells with complete sets of chromosomes. Previously, scientists could not sustain cell cultures with cells that had two complete sets of chromosomes like normal human cells (diploid). As a result, scientists struggled to study human cell biology because there was not a reliable source of cells that represented diploid human cells. In their experiments, Hayflick and Moorhead created lasting strains of human cells that retained both complete sets of chromosomes.
"RNA-Guided Human Genome Engineering via Cas 9" (2013), by Prashant Mali, Luhan Yang, Kevin M. Esvelt, John Aach, Marc Guell, James E. DiCarlo, Julie E. Norville, and George M. Church
In 2013, George Church and his colleagues at Harvard University in Cambridge, Massachusetts published RNA-Guided Human Genome Engineering via Cas 9, in which they detailed their use of RNA-guided Cas 9 to genetically modify genes in human cells. Researchers use RNA-guided Cas 9 technology to modify the genetic information of organisms, DNA, by targeting specific sequences of DNA and subsequently replacing those targeted sequences with different DNA sequences. Church and his team used RNA-guided Cas 9 technology to edit the genetic information in human cells.
CRISPR Acquired Resistance Against Viruses (2007)
In 2007, Philippe Horvath and his colleagues explained how bacteria protect themselves against viruses at Danisco, a Danish food company, in Dangé-Saint-Romain, France. Horvath and his team worked to improve the lifespan of bacteria cultures for manufacturing yogurt and ice cream. Specifically, they focused on bacteria’s resistance to bacteriophages, or viruses that infect bacteria. Horvath and his colleagues found that the bacteria used to culture yogurt, Streptococcus thermophilus, has an adaptive immune system that can target specific viruses that have previously infected the bacteria.
Davis v. Davis (1992)
In Davis v. Davis (1992), the Supreme Court of Tennessee decided a dispute over cryopreserved preembryos in favor of Junior Lewis Davis, who sought to have the preembryos destroyed over the objections of his former wife, Mary Sue Davis. The decision in Davis, although not binding in other states, suggested a framework for resolving similar disputes in the US. That framework established that courts should follow the wishes of those who contribute their sperm and egg cells, or gamete providers, to create preembryos.
"A Proposal for a New Method of Evaluation of the Newborn Infant" (1953), by Virginia Apgar
In 1953, Virginia Apgar published the article "A Proposal for a New Method for Evaluation of the Newborn Infant" about her method for scoring newborn infants directly after birth to assess their health and whether medical intervention was necessary. Apgar worked at the Presbyterian Hospital in New York City, New York, as an obstetrical anesthesiologist, a physician who administers pain medication during childbirth.
Ethics of Fetal Surgery
Surgeons sometimes operate on the developing fetuses in utero of pregnant women as a medical intervention to treat a number of congential abnormalities, operations that have ethical aspects. A. William Liley performed the first successful fetal surgery, a blood transfusion, in New Zealand in 1963 to counteract the effects of hemolytic anemia, or Rh disease.
Stephen Jay Gould (1941-2002)
Stephen Jay Gould studied snail fossils and worked at Harvard University in Cambridge, Massachusetts during the latter half of the twentieth century. He contributed to philosophical, historical, and scientific ideas in paleontology, evolutionary theory, and developmental biology. Gould, with Niles Eldredge, proposed the theory of punctuated equilibrium, a view of evolution by which species undergo long periods of stasis followed by rapid changes over relatively short periods instead of continually accumulating slow changes over millions of years.
“Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid” (1953), by James Watson and Francis Crick
In April 1953, James Watson and Francis Crick published “Molecular Structure of Nucleic Acids: A Structure of Deoxyribose Nucleic Acid” or “A Structure for Deoxyribose Nucleic Acid,” in the journal Nature. In the article, Watson and Crick propose a novel structure for deoxyribonucleic acid or DNA. In 1944, Oswald T. Avery and his group at Rockefeller University in New York City, New York published experimental evidence that DNA contained genes, the biological factors called genes that dictate how organisms grow and develop.