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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

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

Weber v. Stony Brook Hospital (1983)

The New York Court of Appeals' 1983 case Weber v. Stony Brook set an important precedent upholding the right of parents to make medical decisions for newborns born with severe congenital defects. A pro-life New York attorney, Lawrence Washburn, attempted to legally intervene in the case of Baby Jane Doe, an infant born with disorders. When the infant's parents chose palliative care over intensive corrective surgery, Washburn made repeated attempts to have the New York courts force through the surgery.

Format: Articles

Subject: Legal, Reproduction

The Baby Doe Rules (1984)

The Baby Doe Rules represent the first attempt by the US government to directly intervene in treatment options for neonates born with congenital defects. The name of the rule comes from the controversial 1982 case of a Bloomington, Indiana infant Baby Doe, a name coined by the media. The Baby Doe Rules mandate that, as a requirement for federal funding, hospitals and physicians must provide maximal care to any impaired infant, unless select exceptions are met. If a physician or parent chooses to withhold full treatment when the exceptions are not met, they are liable for medical neglect.

Format: Articles

Subject: Legal, Reproduction

United States v. University Hospital (1984)

The US 2nd Circuit Court of Appeals' 1984 decision United States v. University Hospital, State University Hospital of New York at Stony Brook set a significant precedent for affirming parental privilege to make medical decisions for handicapped newborns, while limiting the ability of the federal government to intervene. The ruling stemmed from the 1983 case involving an infant born with severe physical and mental congenital defects; the infant was only identified as Baby Jane Doe.

Format: Articles

Subject: Legal, Reproduction

James Marion Sims (1813-1883)

James Marion Sims developed a surgical cure for ruptures of the wall separating the bladder from the vagina during labor, ruptures called vesico-vaginal fistulas, and he developed techniques and tools used to improve reproductive examinations and health care for women in the US during the nineteenth century. Sims's lateral examination position allowed doctors to better see the vaginal cavity, and his speculum, a spoon-like object used for increased view into the vagina, helped to make gynecological examinations more thorough.

Format: Articles

Subject: People, Reproduction

James Marion Sims's Treatment of Vesico-Vaginal Fistula

James Marion Sims developed a treatment for vesico-vaginal fistulas in Montgomery, Alabama in the 1840s. Vesico-vaginal fistulas were a relatively common condition in which a woman's urine leaked into her vaginal cavity from her bladder, and many regarded the fistulas as untreatable during the early 1800s. After years of efforts to repair the fistulas with myriad tools, techniques, and procedures, Sims developed the speculum and a vaginal examination position later named for him.

Format: Articles

Subject: Technologies, Reproduction

Methylmercury and Human Embryonic Development

Methylmercury (MeHg) is an organic form of mercury that can damage the developing brains of human fetuses. Women who consume methylmercury during pregnancy can bear children who have neurological issues because methylmercury has toxic effects on the nervous system during embryonic development. During the third week of gestation, the human nervous system begins to form in the embryo. During this gestational period, the embryo's nervous system is particularly susceptible to the influence of neurotoxins like methylmercury that can result in abnormalities.

Format: Articles

Subject: Reproduction, Disorders

"Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals" (1939), by Abner Wolf et al.

In a series of experiments during mid 1930s, a team of researchers in New York helped establish that bacteria of the species Toxoplasma gondii can infect humans, and in infants can cause toxoplasmosis, a disease that inflames brains, lungs, and hearts, and that can organisms that have it. The team included Abner Wolf, David Cowen, and Beryl Paige. They published the results of their experiment in Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals.

Format: Articles

Subject: Experiments, Reproduction, Disorders

"Transfer of Fetal Cells with Multilineage Potential to Maternal Tissue" (2004), by Kiarash Khosrotehrani et al.

In 2004, a team of researchers at Tufts-New England
Medical Center in Boston, Massachusetts, investigated the fetal
cells that remained in the maternal blood stream after pregnancy.
The results were published in Transfer of Fetal Cells with
Multilineage Potential to Maternal Tissue. The team working on that
research included Kiarash Khosrotehrani, Kirby L. Johnson, Dong
Hyun Cha, Robert N. Salomon, and Diana W. Bianchi. The researchers
reported that the fetal cells passed to a pregnant woman during

Format: Articles

Subject: Experiments, Reproduction

Amniocentesis

Amniocentesis is a test used for prenatal diagnosis of inherited diseases, Rh incompatibility, neural tube defects, and lung maturity. Normally performed during the second trimester of a pregnancy, this invasive procedure allows the detection of health problems in the fetus as early as fifteen weeks gestation. Although amniocentesis does carry some significant risks, the medical community commonly accepts it as a safe and useful procedure.

Format: Articles

Subject: Technologies, Reproduction

Leon Chesley (1908-2000)

Leon Chesley studied hypertension, or high blood pressure, in pregnant women during the mid-twentieth century. Chesley studied preeclampsia and eclampsia, two hypertensive disorders found in approximately five percent of all US pregnancies. In New Jersey and New York, Chesley devoted over forty years to researching preeclampsia and eclampsia. Chesley conducted several long-term studies using the same group of women beginning from their pregnancies.

Format: Articles

Subject: People, Reproduction

Rh Incompatibility in Pregnancy

Rh incompatibility occurs when a pregnant woman whose blood type is Rh-negative is exposed to Rh-positive blood from her fetus, leading to the mother s development of Rh antibodies. These antibodies have the potential to cross the placenta and attach to fetal red blood cells, resulting in hemolysis, or destruction of the fetus 's red blood cells. This causes the fetus to become anemic, which can lead to hemolytic disease of the newborn. In severe cases, an intrauterine blood transfusion for the fetus may be required to correct the anemia.

Format: Articles

Subject: Processes, Disorders, Reproduction

Amniocentesis Prior to 1980

The extraembryonic membranes that surround and originate from the embryos of vertebrates such as birds, reptiles, and mammals are crucial to their development. They are integral to increasing the surface area of the uterus, forming the chorion (which in turn produces the placenta) and the amnion, respectively. The amnion will ultimately surround the embryo in a fluid-filled amniotic cavity. This amniotic fluid, which cushions and protects the fetus and helps prevent the onset of labor, is sampled in amniocentesis to screen for genetic diseases.

Format: Articles

Subject: Processes, Reproduction

Albert William Liley (1929-1983)

Albert William Liley advanced the science of fetal physiology and the techniques of life-saving in utero blood transfusions for fetuses with Rh incompatibility, also known as hemolytic disease. Due to his advances, fetuses too young to survive premature delivery, and likely to die in utero if their Rh incompabilities were left untreated, were successfully transfused and carried to term. Liley was as passionate as a clinician and researcher as he was about his views on the rights of the unborn.

Format: Articles

Subject: People, Reproduction

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

Lap-Chee Tsui (1950-)

Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.

Format: Articles

Subject: People, Reproduction

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

Umbilical Cord Blood Stem Cells (UCBSC)

Umbilical cord blood (UCB) stem cells are hematopoietic stem cells (HSC) that are recovered from the blood of the umbilical cord and placenta after birth. Umbilical cord blood is rich in cells that express the CD34 molecule, a surface protein that identifies cells as stem cells. Prior to the discovery of UCB stem cells, it was standard procedure to discard the umbilical cord and placenta; now much effort is devoted to raising public awareness and to encouraging people to store or donate cord blood.

Format: Articles

Subject: Processes, Reproduction

Ethics of Designer Babies

A designer baby is a baby genetically engineered in vitro for specially selected traits, which can vary from lowered disease-risk to gender selection. Before the advent of genetic engineering and in vitro fertilization (IVF), designer babies were primarily a science fiction concept. However, the rapid advancement of technology before and after the turn of the twenty-first century makes designer babies an increasingly real possibility.

Format: Articles

Subject: Ethics, Reproduction

Gunther von Hagens (1945- )

Gunther von Hagens invented a plastination technique and created Body Worlds, a traveling exhibit that has made anatomy part of the public domain. Von Hagens invented the plastination technique in 1977 while working at Heidelberg University in Heidelberg, Germany. Von Hagen's plastination technique preserves real bodies and tissues by the removal of the fluid and replacement with resin. Body Worlds features three-dimensional, plastinated human bodies.

Format: Articles

Subject: People, Outreach, Reproduction

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

Park v. Chessin (1977)

The New York Appellate Court ruled on 11 December 1977 in favor of Steven and Hetty Park and against Herbert Chessin for the wrongful life of the Parks' child. In a wrongful life case, a disabled or sometimes deceased child brings suit against a physician for failing to inform its parents of possible genetic defects, thereby causing harm to the child when born. Park v. Chessin was the first case to rule that medical personnel could be legally responsible for wrongful life. Further cases such as the 1979 case Berman v. Allan and the 1982 case Turpin v.

Format: Articles

Subject: Legal, Reproduction

Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo. The purpose of PGD is to identify what are considered to be abnormal embryos in order to select the most desirable embryos for implantation.

Format: Articles

Subject: Technologies, Reproduction

The Infant Incubator in Europe (1860-1890)

In the nineteenth century, obstetricians in Europe began to construct devices to incubate infants in increasingly controlled environments. The infant incubator is a medical device that maintains stable conditions and a germ free environment for premature infants born before the thirty-seventh week of pregnancy. Records show that physicians had used infant incubators since 1835. However, Jean-Louis-Paul Denuce, a physician who worked in Bordeaux, France, first published about incubator technology in 1857.

Format: Articles

Subject: Technologies, Reproduction

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