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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

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

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

"The Environment and Disease: Association or Causation?" (1965), by Austin Bradford Hill

In 1965, Austin Bradford Hill published the article “The Environment and Disease: Association or Causation?” in the Proceedings of the Royal Society of Medicine. In the article, Hill describes nine criteria to determine if an environmental factor, especially a condition or hazard in a work environment, causes an illness. The article arose from an inaugural presidential address Hill gave at the 1965 meeting of the Section of Occupational Medicine of the Royal Society of Medicine in London, England.

Format: Articles

Subject: Publications

Gene Transfer Strategy Used to Treat Tay - Sachs Disease (2005), by Sabata Martino’s Research Group

In the early 2000s, Sabata Martino and a team of researchers in Italy and Germany showed that they could reduce the symptoms of Tay-Sachs in afflicted mice by injecting them with a virus that infected their cells with a gene they lacked. Tay-Sachs disease is a fatal degenerative disorder that occurs in infants and causes rapid motor and mental impairment, leading to death at the ages of three to five. In gene therapy, researchers insert normal genes into cells that have missing or defective genes in order to correct genetic disorders.

Format: Articles

Subject: Experiments

"Health Status of Vietnam Veterans III. Reproductive Outcomes and Child Health" (1988), by the US Centers for Disease Control

In 1988, the US Centers for Disease Control published 'Health Status of Vietnam Veterans III. Reproductive Outcomes and Child Health,' which summarized part of the results of the Vietnam Experience Study commissioned by US Congress to assess the health of US Vietnam veterans. They published the article in the Journal of the American Medical Association. The most heavily used herbicide in the Vietnam, Agent Orange, had previously been found to contain a contaminant linked to birth defects in rats.

Format: Articles

Subject: Publications

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

The People of the State of New York v. Margaret H. Sanger (1918)

In 1918, the New York State Court of Appeals in Albany broadened the justification physicians could use to prescribe contraceptives to married patients in the case The People of the State of New York v. Margaret H. Sanger (People v. Sanger). The presiding judge of People v. Sanger, Frederick Crane, ruled that under Section 1145 of the New York Penal Code physicians could provide contraceptives to married couples for the prevention of disease.

Format: Articles

Subject: Legal

Julia Bell (1879-1979)

Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80.

Format: Articles

Subject: People

The Guthrie Test for Early Diagnosis of Phenylketonuria

The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant’s heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process that affects the brains in untreated infants.

Format: Articles

Subject: Technologies

The Effectiveness of Phototherapy in Premature Infants (1968)

In 1968, pediatric researchers Jerold Lucey, Mario Ferreiro, and Jean Hewitt conducted an experimental trial that determined that exposure to light effectively treated jaundice in premature infants. The three researchers published their results in 'Prevention of Hyperbilirubinemia of Prematurity by Phototherapy' that same year in Pediatrics. Jaundice is the yellowing of the skin and eyes due to the failure of the liver to break down excess bilirubin in the blood, a condition called hyperbilirubinemia.

Format: Articles

Subject: Experiments

Smith v. Cote (1986)

The case of Smith v. Cote (1986) answered two important questions concerning law and childbirth: does the State of New Hampshire recognize a cause of action for what is defined as wrongful birth, and does the State recognize a cause of action for what is classified as wrongful life? In the case of Smith v. Cote, damages were permitted for wrongful birth, but not for the action of wrongful life.

Format: Articles

Subject: Legal, 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

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

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

Shoukhrat Mitalipov and Masahito Tachibana’s Mitochondrial Gene Replacement in Primate Offspring and Embryonic Stem Cells (2009)

Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers replaced the mitochondrial genes of primate embryonic stem cells via spindle transfer. Spindle replacement, also called spindle transfer, is the process of removing the genetic material found in the nucleus of one egg cell, or oocyte, and placing it in another egg that had its nucleus removed. Mitochondria are organelles found in all cells and contain some of the cell’s genetic material. Mutations in the mitochondrial DNA can lead to neurodegenerative and muscle diseases.

Format: Articles

Subject: Experiments

Shoukhrat Mitalipov and Masahito Tachibana's Mitochondrial Gene Replacement Therapy Technique

In 2009, Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers developed the technology of mitochondrial gene replacement therapy to prevent the transmission of a mitochondrial disease from mother to offspring in primates. Mitochondria contain some of the body's genetic material, called mitochondrial DNA. Occasionally, the mitochondrial DNA possesses mutations.

Format: Articles

Subject: Technologies

Hans Asperger (1906-1980)

Hans Asperger studied mental abnormalities in children in
Vienna, Austria, in the early twentieth century. Asperger was one of
the early researchers who studied the syndrome that was later named
after him, Asperger's Syndrome. Asperger described the syndrome in
his 1944 publication Die Autistischen Psychopathen im
Kindesalter (Autistic Psychopathy in Childhood). At that time,
the syndrome was called autistic psychopathy, and Asperger noted
that characteristics of the syndrome included lack of sympathy,

Format: Articles

Subject: People

Birth Defects Caused by Agent Orange

During the Vietnamese War between 1961 and 1971 the United States armed forces engaged in a massive defoliation and crop destruction campaign named Operation Ranch Hand. Agent Orange, an herbicide so named because of the orange color of its storage barrels, was the most heavily used herbicide of the campaign. In addition to military personnel from Australia, New Zealand, South Korea, North Vietnam, South Vietnam, and the United States, an estimated 4.8 million Vietnamese civilians were exposed to herbicides during the war.

Format: Articles

Subject: Disorders, 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

“The History of Twins, As a Criterion of the Relative Powers of Nature and Nurture” (1875), by Francis Galton

In the article “The History of Twins, As a Criterion of the Relative Powers of Nature and Nurture,” Francis Galton describes his study of twins. Published in 1875 in Fraser’s Magazine in London, England, the article lays out Galton’s use of twins to examine and distinguish between the characteristics people have at birth and the characteristics they receive from the circumstances of life and experience. Galton calls those factors nature and nurture. Based on his study, Galton concluded that nature has a larger effect than nurture on development.

Format: Articles

Subject: Publications

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

Hermaphrodites and the Medical Invention of Sex (1998), by Alice Domurat Dreger

Hermaphrodites and the Medical Invention of Sex, by historian of science Alice Domurat Dreger, was published in 1998 by Harvard University Press. In the book, Dreger describes how many doctors and scientists treated human hermaphrodites from the late nineteenth century to the early twentieth century. She states that during this time period, many physicians and scientists struggled to determine the nature sex, and to support a classification of sex as male or female, many physicians and scientists resorted to viewing a person's gonads for identification of his or her sex.

Format: Articles

Subject: Publications, Theories, 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

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