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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

Endoscopic Fetoscopy

Endoscopic fetoscopy is a minimally invasive surgical procedure performed during pregnancy that allows physicians to view the fetus in-utero. Physicians use endoscopic fetoscopy to evaluate, diagnose, and treat fetal abnormalities. Physicians use an endoscope, or a thin, flexible surgical device with a light attached to its end, to perform endoscopic fetoscopy procedures. In 1954, Björn Westin performed the first endoscopic fetoscopy in Sweden.

Format: Articles

Subject: Technologies

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

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

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

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

Turpin v. Sortini (1982)

The Supreme Court of California reversed the Superior Court of Fresno County's decision to dismiss the Turpins' claims in the case Turpin v. Sortini on 3 May 1982. The case was based upon a wrongful life claim, in which a disabled child sues physicians for neglecting to inform its parents of potential genetic defects, resulting in harm to the child when it is born. The Turpin case determined tha a physician could be liable for failing to inform parents of potential birth defects in the fetus.

Format: Articles

Subject: Legal, 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

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

The Measles, Mumps, and Rubella (MMR) Vaccine

The measles, mumps, and rubella (MMR) vaccine was created by Maurice Hilleman in 1971 at the Merck Institute of Therapeutic Research, a pharmaceutical company in West Point, Pennsylvania. It combined three separate vaccines for measles, mumps, and rubella, common and sometimes fatal diseases. Measles causes a red skin rash and severe fevers that can be fatal. Mumps causes fever and swelling of the salivary glands in the mouth and jaw, while rubella causes milder fevers and skin rashes.

Format: Articles

Subject: Technologies

John Chassar Moir (1900–1977)

John Chassar Moir lived in Scotland during the twentieth century and helped develop techniques to improve the health of pregnant women. Moir helped to discover compounds that doctors could administer to women after childbirth to prevent life-threatening blood loss. Those compounds included the ergot alkaloid called ergometrine, also called ergonovine, and d-lysergic acid beta-propanolamide. Moir tested ergometrine in postpartum patients and documented that it helped prevent or manage postpartum hemorrhage in women.

Format: Articles

Subject: People, Reproduction, Disorders

Annie Dodge Wauneka (1910-1997)

Annie Dodge Wauneka, a member of the Navajo Tribal Council in Window Rock, Arizona, from 1951 to 1978, advocated for improved lifestyle, disease prevention, and access to medical knowledge in the Navajo Indian Reservation, later renamed the Navajo Nation. Wauneka served as chair of the Health and Welfare Committee of the Navajo Tribal Council and as a member of the US Surgeon General’s Advisory Committee on Indian Health. Wauneka advocated for initiatives aimed at promoting education, preventing tuberculosis, and reducing the infant mortality rate.

Format: Articles

Subject: People

"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

"Predictors of Postpartum Depression: An Update” (2001), by Cheryl Tatano Beck

In her 2001 paper “Predictors of Postpartum Depression: An Update,” researcher Cheryl Tatano Beck presents the most common risk factors associated with postpartum depression in women. Postpartum depression occurs when women experience symptoms such as tearfulness, extreme mood changes, and loss of appetite for a lengthened period after giving birth. At the University of Connecticut in Storrs, Connecticut, nursing professor Beck updated a previous study of hers by analyzing literature about postpartum depression published in the 1990s.

Format: Articles

Subject: Publications

Franz Max Albert Kramer (1878–1967)

Scientist Franz Max Albert Kramer worked as a psychiatrist in Poland and the Netherlands in the early twentieth century and is known for his contributions to research on psychological conditions that experts call hyperkinetic syndromes. Children with hyperkinetic syndromes display inattention, overactivity, and impulsivity. Along with scientist Hans Pollnow, Kramer defined a specific kind of hyperkinetic syndrome based on an initial case study of seventeen children, initially known as Kramer-Pollnow Syndrome.

Format: Articles

Subject: People

Parasitic Twins

Parasitic twins, a specific type of conjoined twins, occurs when one twin ceases development during gestation and becomes vestigial to the fully formed dominant twin, called the autositic twin. The underdeveloped twin is called parasitic because it is only partially formed, is not functional, or is wholly dependent on the autositic twin.

Format: Articles

Subject: Disorders, Reproduction

Lazzaro Spallanzani (1729-1799)

Lazzaro Spallanzani's imaginative application of experimental methods, mastery of microscopy, and wide interests led him to significant contributions in natural history, experimental biology, and physiology. His detailed and thoughtful observations illuminated a broad spectrum of problems ranging from regeneration to the genesis of thunderclouds.

Format: Articles

Subject: People

Cord Blood Banking

Cord blood banks are institutions designed to store umbilical cord blood (UCB) stem cells. UCB, a source of hematopoietic stem cells (HSCs), has garnered attention from scientific and medical communities since its first successful use in a hematopoietic stem cell transplant (HSCT) in 1988. The umbilical cord is the lifeline by which the growing fetus is nourished by the mother. Once regarded as medical waste, the umbilical cord has become a source of lifesaving treatment.

Format: Articles

Subject: Technologies, Reproduction

Forbes v. Napolitano (2000)

Forbes v. Napolitano (2000) was a US court case that established that Arizona researchers could use fetal tissues from induced abortions for basic scientific research, for instance, as a source of stem cells. The case challenged the constitutionality of the Arizona Revised Statute (ARS) 36-2303 in the Ninth Circuit US Court of Appeals, a law that banned researchers from using fetal tissues from abortions for any type of medical experimentation or investigation. The Ninth Circuit US Court of Appeals decision in Forbes v.

Format: Articles

Subject: Legal

US Regulatory Response to Thalidomide (1950-2000)

Thalidomide, a drug capable of causing fetal abnormalities (teratogen), has caused greater than ten thousand birth defects worldwide since its introduction to the market as a pharmaceutical agent. Prior to discovering thalidomide's teratogenic effects in the early 1960s, the US Food and Drug Administration (FDA) did not place regulations on drug approval or monitoring as it later did. By 1962, approximately 20,000 patients in the US had taken thalidomide as part of an unregulated clinical trial before any actions were taken to stop thalidomide's distribution.

Format: Articles

Subject: Legal, Reproduction

Body Worlds

Body Worlds is an exhibition featuring plastinates, human bodies that have been preserved using a plastination process. First displayed in 1995 in Tokyo, Japan, this collection of anatomical specimens has since been displayed around the world. Although the exhibition debuted in Japan, the idea for the displays began at Heidelberg University in Heidelberg, Germany, where anatomist Gunther von Hagens invented a technique for plastination in the 1970s. After years of research and small-scale presentations of his work, von Hagens created Body Worlds, or Korperwelten in German.

Format: Articles

Subject: Organizations

“The Prophylactic Forceps Operation” (1920), by Joseph Bolivar DeLee

In 1920, Joseph Bolivar DeLee published the article, “The Prophylactic Forceps Operation,” in which he describes how physicians can manually remove a neonate from a laboring woman’s vagina with the use of sedating drugs and forceps. The procedure, according to DeLee, resulted in decreased rates of complications and mortality for both the woman and neonate. DeLee claimed the procedure could reduce damage to the woman such as prolapse, or when internal pelvic organs push down and sometimes protrude from the vagina, and fatal infant brain bleeding.

Format: Articles

Subject: Publications, Processes

David Hunter Hubel (1926–2013)

David Hunter Hubel studied the development of the visual system and how the brain processes visual information in the US during the twentieth century. He performed multiple experiments with kittens in which he sewed kitten’s eyes shut for varying periods of time and monitored their vision after reopening them. Hubel, along with colleague Torsten Wiesel, received the 1981 Nobel Prize in Physiology or Medicine for that research.

Format: Articles

Subject: People

David H. Hubel and Torsten N. Wiesel’s Research on Optical Development in Kittens

During 1964, David Hubel and Torsten Wiesel studied the short and long term effects of depriving kittens of vision in one eye. In their experiments, Wiesel and Hubel used kittens as models for human children. Hubel and Wiesel researched whether the impairment of vision in one eye could be repaired or not and whether such impairments would impact vision later on in life. The researchers sewed one eye of a kitten shut for varying periods of time.

Format: Articles

Subject: Experiments