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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

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

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 Hershey-Chase Experiments (1952), by Alfred Hershey and Martha Chase

In 1951 and 1952, Alfred Hershey and Martha Chase conducted a series of experiments at the Carnegie Institute of Washington in Cold Spring Harbor, New York, that verified genes were made of deoxyribonucleic acid, or DNA. Hershey and Chase performed their experiments, later named the Hershey-Chase experiments, on viruses that infect bacteria, also called bacteriophages. The experiments followed decades of scientists’ skepticism about whether genetic material was composed of protein or DNA.

Format: Articles

Subject: Experiments

Robert Guthrie (1916–1995)

Robert Guthrie developed a method to test infants for phenylketonuria (PKU) in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnosis it. Guthrie’s test enabled newborns to be quickly and cheaply screened at birth and then treated for PKU if necessary, preventing irreversible neurological damage.

Format: Articles

Subject: People

Isotretinoin (Accutane) as a Teratogen

Isotretinoin is a molecule and a byproduct (metabolite) of vitamin A, and in greater than normal amounts in pregnant women, it can cause fetal abnormalities including cleft lips, ear and eye defects, and mental retardation. Isotretinoin is commonly called by its trade name Accutane, and it's a chemical compound derived from vitamin A, or retinoic acid. Doctors prescribe isotretinoin to treat severe acne. For pregnant women, too much vitamin A or isotretinoin can also cause greater than normal rates of stillbirths and fetal disintegrations after the ninth week of gestation.

Format: Articles

Subject: Reproduction, Disorders

Sex Determination in Humans

In humans, sex determination is the process that determines the biological sex of an offspring and, as a result, the sexual characteristics that they will develop. Humans typically develop as either male or female, primarily depending on the combination of sex chromosomes that they inherit from their parents. The human sex chromosomes, called X and Y, are structures in human cells made up of tightly bound deoxyribonucleic acid, or DNA, and proteins.

Format: Articles

Subject: Processes, Processes

Rosalind Elsie Franklin (1920-1958)

Rosalind Elsie Franklin worked with X-ray crystallography at King's College London, UK, and she helped determine the helical structure of DNA in the early 1950s. Franklin's research helped establish molecular genetics, a field that investigates how heredity works on the molecular level. The discovery of the structure of DNA also made future research possible into the molecular basis of embryonic development, genetic disorders, and gene manipulation.

Format: Articles

Subject: People

The Shettles Method of Sex Selection

In the 1960s in the United States Landrum B. Shettles developed the Shettles method, which is a procedure for couples to use prior to and during an intercourse to increase their chances of conceiving a fetus of their desired sex. Shettles, a physician, who specialized in obstetrics and gynecology, found a difference in the size and shape of male sperm cells that he correlated with the different sex chromosomes they carry.

Format: Articles

Subject: Technologies, Reproduction

Retinoids As Teratogens

Vitamin A (retinol) is an essential vitamin in the daily functioning of human beings that helps regulate cellular differentiation of epithelial tissue. Studies have shown that an excess of vitamin A can affect embryonic development and result in teratogenesis, or the production of birth defects in a developing embryo. Excess intake of vitamin A and retinoids by pregnant women often results malformations to fetuses' skulls, faces, limbs, eyes, central nervous system.

Format: Articles

Subject: Disorders, Reproduction

Artificial Parthenogenesis and Fertilization (1913), by Jacques Loeb

Jacques Loeb is best known for his embryological work investigating parthenogenesis in invertebrates. Artificial Parthenogenesis and Fertilization is a revised and English-translated work from his earlier book, Die chemische Entwicklungserregung des tierischen Eies (1900). Artificial Parthenogenesis describes Loeb's many and varied methodical experiments to initiate egg development without fertilization by sperm. As is true with much of science, some of Loeb's experiments were successful and many were not.

Format: Articles

Subject: Publications

Nerve Growth Factor

Nerve growth factor (NGF) is a signaling protein and growth factor implicated in a wide range of development and maintenance functions. NGF was discovered through a series of experiments in the 1950s on the development of the chick nervous system. Since its discovery, NGF has been found to act in a variety of tissues throughout development and adulthood. It has been implicated in immune function, stress response, nerve maintenance, and in neurodegenerative diseases.

Format: Articles

Subject: Processes

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

Chemical Induction

Research in chemical induction seeks to identify the compound or compounds responsible for differentiation in a developing embryo. Soren Lovtrup compared the search for these compounds to the search for the philosopher's stone. It was based on the assumption that the differentiating agents have to be chemical substances either within cells or in the extracellular matrix.

Format: Articles

Subject: Processes

“Family Limitations” (1914), by Margaret Higgins Sanger

In 1914, Margaret Sanger published “Family Limitations,” a pamphlet describing six different types of contraceptive methods. At the time Sanger published the pamphlet, the federal Comstock Act of 1873 had made distributing contraceptive and abortion information through the US postal service illegal. The Comstock Act classified contraceptive information as obscene and limited the amount of information available to individuals about preventing pregnancies.

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

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

"Genetic Evidence Equating SRY and the Testis-Determining Factor" (1990), by Phillippe Berta et al.

In the late 1980s, Peter Goodfellow in London, UK led a team of researchers who showed that the SRY gene in humans codes a protein that causes testes to develop in embryos. During this time, scientists in London and Paris, including Peter Koompan and John Gubbay, proposed that SRY was the gene on the Y chromosome responsible for encoding the testis-determining factor (TDF) protein. The TDF is a protein that initiates embryo to develop male characteristics.

Format: Articles

Subject: Experiments

The Southern Gastric-Brooding Frog

The Southern Gastric-Brooding Frog (Rheobatrachus silus) was an aquatic frog that lived in south-east Australia. In 2002, the International Union for Conservation of Nature Red List declared the frog extinct, although no wild specimens had been reported since 1981. As the common name alludes to, the R.

Format: Articles

Subject: Organisms

The Debate over DNA Replication Before the Meselson-Stahl Experiment (1953–1957)

Between 1953 and 1957, before the Meselson-Stahl experiment verified semi-conservative replication of DNA, scientists debated how DNA replicated. In 1953, James Watson and Francis Crick proposed that DNA was composed of two helical strands that wound together in a coil. Their model suggested a replication mechanism, later termed semi-conservative replication, in which parental DNA strands separated and served as templates for the replication of new daughter strands.

Format: Articles

Subject: Theories

Transposition of the Great Arteries (TGA)

Transposition of the great arteries or TGA is a potentially fatal congenital heart malformation where the pulmonary artery and the aorta are switched. The switch means that the aorta, which normally carries oxygenated blood, carries deoxygenated blood. There are two types of the malformation, d-TGA where no oxygen reaches the body and l-TGA where some oxygenated blood circulates. In the US, the Centers for Disease Control estimate that about 1,901 infants are born each year with TGA, or about one for every 2,000 births.

Format: Articles

Subject: Disorders

Evaluation of the Newborn Infant--Second Report (1958), by Virginia Apgar et al.

Virginia Apgar and colleagues wrote “Evaluation of the Newborn Infant—Second Report” in 1958. This article explained that Apgar’s system for evaluating infants’ condition after birth accurately predicted the health of infants. Apgar had developed the scoring system in 1953 to provide a simple method for determining if an infant needed medical attention after birth.

Format: Articles

Subject: Reproduction, Publications

Ernest Everett Just (1883-1941)

Ernest Everett Just was an early twentieth century American experimental embryologist involved in research at the Marine Biological Laboratory (MBL) at Woods Hole, Massachusetts, and the Stazione Zoologica in Naples, Italy. Just was known for simple but elegant experiments that supported the "fertilizing" theory of Frank R. Lillie and served as an antagonist to Jacques Loeb's work with artificial parthenogenesis.

Format: Articles

Subject: People

Your Baby’s Sex: Now You Can Choose (1970), by David M. Rorvik and Landrum B. Shettles

In the book Your Baby’s Sex: Now You Can Choose, David Michael Rorvik and Landrum Brewer Shettles describe methods that couples can use prior to and during conception that will increase the chances of producing a child of their desired sex. Rorvik, a science writer, and Shettles, an obstetrics and gynecology researcher and physician, co-wrote the book. Shettles developed the methods detailed in the book during the 1960s. Although the authors claim a high success rate, some researchers have contested the validity of the methods proposed in Your Baby’s Sex: Now You Can Choose.

Format: Articles

Subject: Publications

Alec John Jeffreys (1950–)

Alec John Jeffreys created a process called DNA fingerprinting in the UK during the twentieth century. For DNA fingerprinting, technicians identify a person as the source of a biological sample by comparing the genetic information contained in the person's DNA to the DNA contained in the sample. Jeffreys developed the technique in the 1980s while at the University of Leicester in Leicester, UK. Jeffreys's technique had immediate applications. In forensic science, DNA fingerprinting enabled police to identify suspects of crimes based on their genetic identities.

Format: Articles

Subject: People