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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

The China-US Study on the Prevention of Neural Tube Defects using Folic Acid (1999)

From 1993 to 1995 researchers led by Robert J. Berry from the US Centers for Disease Control headquartered in Atlanta, Georgia, and Zhu Li from Beijing Medical University in Beijing, China, conducted a collaborative study in China on the prevention of neural tube defects or NTDs using folic acid supplements. NTDs are birth defects in which openings in the spinal cord or the brain that occur during early development remain after birth. Neural-tube formation occurs in early pregnancy, often before a woman knows she is pregnant and therefore before she has begun taking prenatal vitamins.

Format: Articles

Subject: Experiments

Treatment of Anemia during Pregnancy (1931), by Lucy Wills

In 1931, physician Lucy Wills conducted a study of nutritional deficiencies that caused anemia in pregnant women in Bombay, India, later renamed Mumbai. Anemia is a lack of healthy red blood cells in the blood. Wills published the results of her study in the medical article 'Treatment of ‘Pernicious Anaemia of Pregnancy' and 'Tropical Anaemia'' in the British Medical Journal in 1931. Wills's research contributed to knowledge of anemia and the possible causes associated with the disease, such as the symptoms of fatigue and irritability.

Format: Articles

Subject: Experiments

Acid Dissolution of Fossil Dinosaur Eggs

Acid dissolution is a technique of removing a fossil from the surrounding rock matrix in which it is encased by dissolving that matrix with acid. Fossilized bone, though strong enough to be preserved for thousands or millions of years, is often more delicate than rock. Once a fossil is discovered, scientists must remove the fossil from its surroundings without damaging the fossil itself.

Format: Articles

Subject: Technologies

"On the Replication of Desoxyribonucleic Acid (DNA)" (1954), by Max Delbruck

In 1954 Max Delbruck published On the Replication of Desoxyribonucleic Acid (DNA) to question the semi-conservative DNA replication mechanism proposed that James Watson and Francis Crick had proposed in 1953. In his article published in the Proceedings of the National Academy of Sciences, Delbrück offers an alternative DNA replication mechanism, later called dispersive replication. Unlike other articles before it, On the Replication presents ways to experimentally test different DNA replication theories.

Format: Articles

Subject: Publications

Anencephaly

Anencephaly is an open neural tube defect, meaning that part of the neural tube does not properly close or that it has reopened during early embryogenesis. An embryo with anencephaly develops without the top of the skull, but retains a partial skull, including the face. Anencephaly is one of the most common birth defects of the neural tube, occurring at a rate of approximately one in one thousand human pregnancies. The condition can be caused by environmental exposure to chemicals, dietary deficiencies, or genetic mutations.

Format: Articles

Subject: Disorders, Reproduction

Beadle's One Gene-One Enzyme Hypothesis

Object is a digital image with two panes, one on top of the other, both of which picture the area within a cell between the nucleus and the cell membrane. The top pane represent three genes within the cell nucleus, each of which produces a distinct kind of enzyme outside of the nucleus. Those enzymes then function in three distinct kinds of metabolic reactions. The bottom pane represents the same situation, except the second gene is damaged by x-rays and can't produce its enzymes. As a result, two of the three metabolic reactions fail to happen.

Between 1934 and 1945, George Beadle developed a hypothesis that each gene within the chromosomes of organisms each produced one enzyme. Enzymes are types of proteins that can catalyze reactions inside cells, and the figure shows that each enzyme controls a stage in a series of biochemical reactions. The top box in this figure represents a normal process of enzyme production and biochemical reactions, and the bottom box shows how Beadle's experiments affected the normal biochemical process.

Format: Graphics

Subject: Theories, Processes

Beadle and Tatum's 1941 Experiments with Neurospora Revealed that Genes Produce Enzymes

Object is a digital image that depicts four stages in Beadle and Tatum's Neurospora experiments. Each stage is depicted in a separate section, with different test tubes in each section.

This illustration shows George Beadle and Edward Tatum's experiments with Neurospora crassa that indicated that single genes produce single enzymes. The pair conducted the experiments at Stanford University in Palo Alto, California. Enzymes are types of proteins that can catalyze reactions inside cells, reactions that produce a number of things, including nutrients that the cell needs. Neurospora crassa is a species of mold that grows on bread.

Format: Graphics

Subject: Theories, Experiments

Effects of Prenatal Alcohol Exposure on Cardiac Development

A variety of developmental defects occur as a result of prenatal exposure to alcohol (ethanol) in utero. In humans, those defects are collectively classified as Fetal Alcohol Spectrum Disorders, with Fetal Alcohol Syndrome (FAS) representing the more severe defects. FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). In addition to those defects, prenatal exposure to alcohol impacts cardiogenesis, the developmental stage of heart formation.

Format: Articles

Subject: Disorders, Reproduction

Jelly Fish and Green Fluorescent Protein

Object is a digital image that represents green fluorescent protein at various levels of organization within an organism. On the left of the image is a blue circle, in which there is a jelly fish, with some of its parts aglow. From one such part, a zoom circle juts to the right, in which is represented a strand of DNA from the jelly fish. From that circle, a black arrow points to the right and to a new zoom circle, this one representing the primary amino acid sequence coded for by the DNA sequence and that eventually folds into the protein.

The crystal jellyfish, Aequorea victoria, produces and emits light, called bioluminescence. Its DNA codes for sequence of 238 amino acids that forms a protein called Green Fluorescent Protein (GFP). FP is folded so that a part of the protein, called the chromophore, is located in the center of the protein. The chemical structure of the chromophore emits a green fluorescence when exposed to light in the range of blue to ultraviolet.

Format: Graphics

Subject: Theories, Processes, Organisms, Technologies

Alec Jeffreys’s Experiments to Identify Individuals by Their Beta-globin Genes (1977-1979)

In a series of experiments in the late 1970s, Alec J. Jeffreys in the UK and Richard A. Flavell in the Netherlands developed a technique to detect variations in the DNA of different individuals. They compared fragments of DNA from individuals’ beta-globin genes, which produce a protein in hemoglobin. Previously, to identify biological material, scientists focused on proteins rather than on genes. But evidence about proteins enabled scientists only to exclude, but not to identify, individuals as the sources of the biological samples.

Format: Articles

Subject: Experiment

"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

Francis Harry Compton Crick (1916-2004)

Francis Harry Compton Crick, who co-discovered the structure of deoxyribonucleic acid (DNA) in 1953 in Cambridge, England, also developed The Central Dogma of Molecular Biology, and further clarified the relationship between nucleotides and protein synthesis. Crick received the Nobel Prize in Physiology or Medicine that he shared with James Watson and Maurice Wilkins in 1962 for their discovery of the molecular structure of DNA.

Format: Articles

Subject: People

Oswald Theodore Avery (1877-1955)

Oswald Theodore Avery studied strains of pneumococcus of the genus Streptococcus in the US in the first half of the twentieth century. This bacterium causes pneumonia, a common cause of death at the turn of the twentieth century. In a 1944 paper, Avery demonstrated with colleagues Colin Munro MacLeod and Maclyn McCarty that deoxyribonucleic acid, or DNA, instead of protein, formed the material of heritable transformation in bacteria. Avery helped untangle some of the relationships between genes and developmental processes.

Subject: People

Green Fluorescent Protein

Green fluorescent protein (GFP) is a protein in the jellyfish Aequorea Victoria that exhibits green fluorescence when exposed to light. The protein has 238 amino acids, three of them (Numbers 65 to 67) form a structure that emits visible green fluorescent light. In the jellyfish, GFP interacts with another protein, called aequorin, which emits blue light when added with calcium. Biologists use GFP to study cells in embryos and fetuses during developmental processes.

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

The Effects of Gene Regulation on Aging in Caenorhabditis elegans (2003)

In 2003, molecular biology and genetics researchers Coleen T. Murphy, Steven A. McCarroll, Cornelia I. Bargmann, Andrew Fraser, Ravi S. Kamath, Julie Ahringer, Hao Li, and Cynthia Kenyon conducted an experiment that investigated the cellular aging in, Caenorhabditis elegans (C. elegans) nematodes. The researchers investigated the interactions between the transcription factor DAF-16 and the genes that regulate the production of an insulin-like growth factor 1 (IGF-1-like) protein related to the development, reproduction, and aging in C. elegans.

Format: Articles

Subject: Experiments

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

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

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

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

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

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