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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

De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature and Differences of Monsters) (1616), by Fortunio Liceti

In 1616 in Padua, Italy, Fortunio Liceti, a professor of natural philosophy and medicine, wrote and published the first edition of De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature, and Differences of Monsters), hereafter De monstruorum. In De monstruorum, Liceti chronologically documented cases of human and animal monsters from antiquity to the seventeenth century. During the seventeenth century, many people considered such monsters as frightening signs of evil cursed by spiritual or supernatural entities.

Format: Articles

Subject: Theories

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

James G. Wilson's Six Principles of Teratology

James Graves Wilson's six principles of teratology, published in 1959, guide research on teratogenic agents and their effects on developing organisms. Wilson's six principles were inspired by Gabriel Madeleine Camille Dareste's five principles of experimental teratology published in 1877. Teratology is the study of birth defects, and a teratogen is something that either induces or amplifies abnormal embryonic or fetal development and causes birth defects.

Format: Articles

Subject: Processes, Reproduction

Fortunio Liceti (1577–1657)

Fortunio Liceti studied natural philosophy and medicine in Italy during the first half of the seventeenth century. Liceti wrote greater than seventy works on a wide range of topics, including the human soul, reproduction, and birth defects observed in animals and human infants. In the seventeenth century, people commonly addressed birth defects using superstition and considered them as signs of evil, possibly caused by spiritual or supernatural entities. Liceti described infants with birth defects as prodigies and monsters to be admired and studied rather than feared.

Format: Articles

Subject: People

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

Diprosopus (Craniofacial Duplication)

Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree. A less severe instance is when the nose is duplicated and the eyes are spaced far apart. In the most extreme instances, the entire face is duplicated, hence the name diprosopus, which is Greek for two-faced. Fetuses with diprosopus often also lack brains (anencephaly), have neural tube defects, or heart malformations.

Format: Articles

Subject: Disorders, Reproduction

"Congenital Cataract following German Measles in the Mother" (1941), by Norman McAlister Gregg

In Australia in the 1940s, Norman McAlister Gregg observed a connection between pregnant women who contracted the rubella virus, or German measles, and cataract formation in their children's eyes. Gregg published his findings in the 1941 article Congenital Cataract following German Measles in the Mother in Transactions of the Ophthalmological Society of Australia. In the article, Gregg analyzed seventy-eight cases of congenital cataracts and suggested that the mothers' environmental factors could cause birth defects, otherwise known as teratogenic effects.

Format: Articles

Subject: Publications

The Arterial Switch Operation (1954-1975)

The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed.

Format: Articles

Subject: Technologies

Warren Tay (1843–1927)

The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed.

Format: Articles

Subject: Technologies

Felix Anton Dohrn

Felix Anton Dohrn is best remembered as the founder of the Stazione Zoologica di Napoli, the world' s first permanent laboratory devoted to the study of marine organisms. Dohrn was born on 29 December 1840 in Stettin, Pomerania (now Poland), to a wealthy merchant family. Dohrn's paternal grandfather, Heinrich, trained as a surgeon and then established a sugar refinery, while Dohrn's father, Carl August Dohrn, who inherited the family business, became interested in natural history through Alexander von Humboldt, a family friend.

Format: Articles

Subject: People

Congenital Rubella Syndrome (CRS)

Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester.

Format: Articles

Subject: Disorders

"Experimental Studies on Congenital Malformations" (1959), by James G. Wilson

The article Experimental Studies on Congenital Malformations was published in the Journal of Chronic Diseases in 1959. The author, James G. Wilson, studied embryos and birth defects at the University of Florida Medical School in Gainesville, Florida. In his article, Wilson reviewed experiments on birds and mammals from the previous forty years to provide general principles and guidelines in the study of birth defects and teratogens, which are things that cause birth defects.

Format: Articles

Subject: Publications

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

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.

Format: Articles

Subject: Publications

The Hedgehog Signaling Pathway in Vertebrates 

The hedgehog signaling pathway is a mechanism that regulates cell growth and differentiation during embryonic development, called embryogenesis, in animals. The hedgehog signaling pathway works both between cells and within individual cells.

Format: Articles

Subject: Theories

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

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

Studies of Thalidomide's Effects on Rodent Embryos from 1962-2008

Thalidomide is a sedative drug introduced to European markets on 1 October 1957 after extensive testing on rodent embryos to ensure its safety. Early laboratory tests in rodent populations showed that pregnant rodents could safely use it, so doctors prescribed Thalidomide to treat morning sickness in pregnant women. However, in humans Thalidomide interfered with embryonic and fetal development in ways not observed in rodent tests.

Format: Articles

Subject: Organisms, Reproduction, Disorders

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

Agent Orange Birth Defects

Sprayed extensively by the US military in Vietnam, Agent Orange contained a dioxin contaminant later found to be toxic to humans. Despite reports by Vietnamese citizens and Vietnam War veterans of increased rates of stillbirths and birth defects in their children, studies in the 1980s showed conflicting evidence for an association between the two. In 1996, the US National Academy of Sciences reported that there was evidence that suggested dioxin and Agent Orange exposure caused spina bifida, a birth defect in which the spinal cord develops improperly.

Format: Articles

Subject: Disorders

"Congenital Club Foot in the Human Fetus" (1980), by Ernesto Ippolito and Ignacio Ponseti

In 1980, Ernesto Ippolito and Ignacio Ponseti published their results on a histological study they performed on congenital club foot in human fetuses. The researchers examined the feet of four aborted fetuses and compared the skeletal tissues from healthy feet to those affected by congenital club foot. Infants born with club foot are born with one or both feet rigidly twisted inwards and upwards, making typical movement painful and challenging.

Format: Articles

Subject: Experiments

Ignacio Vives Ponseti (1914-2009)

Ignacio Vives Ponseti developed a noninvasive method for treating congenital club foot in the US during the late 1940s. Congenital club foot is a birth deformity in which one or both of an infant's feet are rotated inward beneath the ankle, making normal movement rigid and painful. Ponseti developed a treatment method, later called the Ponseti method, that consisted of a series of manipulations and castings of the club foot performed in the first few months of life.

Format: Articles

Subject: People

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

Josef Warkany (1902–1992)

Josef Warkany studied the environmental causes of birth defects in the United States in the twentieth century. Warkany was one of the first researchers to show that factors in the environment could cause birth defects, and he helped to develop guidelines for the field of teratology, the study of birth defects. Prior to Warkany’s work, scientists struggled to explain if or how environmental agents could cause birth defects. Warkany demonstrated that a deficiency or excess of vitamin A in maternal nutrition could cause birth defects.

Format: Articles

Subject: People

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