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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

Symptoms Associated with Polycystic Ovarian Syndrome (PCOS)

Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age.

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

Subject: Disorders, Theories

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

Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior (1964), by Bernard Rimland

Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior (hereafter Infantile Autism) is a book written by Bernard Rimland, published in 1964. The book proposed a theory to explain the causes of autism. The book also synthesized research into autism and used Rimland's neural theory, described in the book, as a theory to explain some aspects of behavior, intelligence, and abnormality.

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

"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

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

"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

Irving Freiler Stein Sr. (1887–1976)

Irving Freiler Stein Sr. was a physician who studied women’s reproductive health during the twentieth century in the United States. In partnership with his colleague, Michael Leventhal, Stein identified a women’s reproductive disorder related to elevated male sex hormones, or androgens. The syndrome was originally called Stein-Leventhal syndrome and later known as polycystic ovarian syndrome. While studying the syndrome, Stein also helped establish a treatment for the condition, through the surgical removal of ovarian tissues.

Format: Articles

Subject: People

“The Stein-Leventhal Syndrome: A Curable Form of Sterility” (1958), by Irving Freiler Stein Sr.

In 1958, Irving Freiler Stein Sr. published “The Stein-Leventhal Syndrome: A Curable Form of Sterility” documenting his findings on the diagnosis and surgical treatment of Stein-Leventhal syndrome. Stein-Leventhal syndrome, later called polycystic ovarian syndrome (PCOS), affects the reproductive health of women. Common symptoms include excess body hair, a lack of menstrual cycle or amenorrhea, and infertility. As of 2017, polycystic ovarian syndrome is considered the most common reproductive health disorder among women in the United States.

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

Leo Kanner (1894-1981)

Leo Kanner studied and described early infantile autism in humans in the US during the twentieth century. Though Eugen Bleuler first coined the term autism in 1910 as a symptom of schizophrenia, Kanner helped define autism as a disease concept separate from schizophrenia. He helped found an early child psychiatry department in 1930 at the Johns Hopkins University Hospital in Baltimore, Maryland.

Format: Articles

Subject: People

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

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

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

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

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

"Autistic Disturbances of Affective Contact" (1943), by Leo Kanner

Leo Kanner published Autistic Disturbances of Affective Contact in 1943 in the journal Nervous Child. This article described the cases of eleven children with autism. Kanner described the behavior and upbringing of each child, aged two to eight, as well as the educational backgrounds of the children's.

Format: Articles

Subject: Publications

VACTERL Association

VACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. "VACTERL" is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects.

Format: Articles

Subject: Disorders

Pierre Budin (1846-1907)

Pierre Constant Budin worked in France to improve the lives of newborns and their mothers during the late nineteenth century. Budin stressed the importance of proper nutrition in infants and educated new mothers on breastfeeding and infant care. Budin established infant care facilities and created a nutritional check-up system for infants. Budin helped design early artificial nipples, breast pumps, and incubators for premature newborns. He also began the practice of consulting with new mothers after they gave birth, redefining the roles of obstetricians.

Format: Articles

Subject: People, Reproduction

Bernard Rimland (1928-2006)

Bernard Rimland studied autism in children in the United States in the second half of the twentieth century. His early research in the 1950s and into the 1960s led him to assert that infantile autism was a neurodevelopmental disorder, or one that is caused by impairments in the growth and development of the brain or central nervous system. Rimland's assertion that infantile autism was a neurodevelopmental disorder contradicted another theory at that time that the condition resulted from emotionally cold parenting.

Format: Articles

Subject: People

Hypertensive Disorders in Pregnancy (1978), by Leon Chesley

Leon Chesley published Hypertensive Disorders in Pregnancy in 1978 to outline major and common complications that occur during pregnancy and manifest in abnormally high blood pressures in pregnant women. The book was published by Appleton-Century-Crofts in New York, New York. Chesley compiled his book as a tool for practicing obstetricians and teachers.

Format: Articles

Subject: Publications

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