Embryo Project Encyclopedia Articles

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. Gaucher's disease, described by the French dermatologist Philippe Gaucher in 1882, is a lipid storage disorder resulting in an excessive accumulation of lipids in the spleen, kidneys, liver, lungs, bone marrow, and brain. Niemann was able to connect the infant's disease to Gaucher's disease because it displayed similar symptoms: a noticeable accumulation of fatty substances in the brain, liver, and spleen.

William Thornton Mustard was a surgeon in Canada during the twentieth century who developed surgical techniques to treat children who had congenital heart defects. Mustard has two surgeries named after him, both of which he helped to develop. The first of these surgeries replaces damaged or paralyzed muscles in individuals who have polio, a virus that can cause paralysis. The other technique corrects a condition called the transposition of the great arteries (TGA) that is noticed at birth. Surgeons worldwide adopted that technique, leading to increased survival rates in infants afflicted with the condition. Mustard also published over 100 articles on congenital heart defects, surgical techniques, and the preparation of an artificial heart lung machine. Mustard helped perform the first blood transfusion of a newborn whose red blood cells (RBCs) had degraded, a condition called hemolytic anemia. Throughout his career, Mustard developed surgical techniques that increased the survival rates of infants and children with congenital and developmental disorders.

Ignaz Philipp Semmelweis demonstrated that the use of disinfectants could reduce the occurrence of puerperal fever in patients in nineteenth century Austria. Puerperal fever is a bacterial infection that can occur in the uterine tract of women after giving birth or undergoing an abortion. Semmelweis determined that puerperal fever is contagious and argued that the unhygienic practices of physicians, like examining patients after performing autopsies, caused the spread of puerperal fever. He showed that if physicians washed their hands with a chloride solution before they attended patients, then they prevented those patients from developing puerperal fever. Despite being widely criticized during his lifetime, Semmelweis's research on the contagiousness of puerperal fever set a precedent for many scientists, and contributed to preventing the spread of puerperal fever.

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. Throughout history, physicians classified TGA as a condition that causes blue babies and hypothesized it was a fatal condition. With the development of corrective surgeries, studies on the causes of TGA, and improved prenatal diagnosis have allowed for the survival rate for those with TGA to approach almost one hundred percent.

Adib Jatene in Brazil was the first surgeon to successfully perform the arterial switch operation in 1975. The operation corrected a heart condition in infants called transposition of the great arteries (TGA). Left untreated, infants with TGA die, as their blood cannot supply oxygen to their bodies. Jatene’s operation became widely used to correct the condition. Aside from medical research, Jatene worked for years in politics and education, serving as Brazil’s minister of health and teaching thoracic surgery at the University of São Paulo.

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. The switch between the aorta and pulmonary artery results in dangerously low levels of oxygen, a condition called cyanosis, in newborn infants, which causes them to die if a surgeon does not correct it.

Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. Some of these agents target the embryonic period's "window of susceptibility," three to eight weeks after a pregnant woman's last menstruation, when the highest degree of sensitivity to embryonic cell differentiation and organ formation occurs. The embryonic period or critical period is when most organ systems form, whereas the fetal period, week eight to birth, involves the growth and modeling of the organ systems. During the window of susceptibility, teratogens such as thalidomide can severely damage critical milestones of embryonic development.

Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats. Biochemists and endocrinologists found the results of Dodd and Lawson's experiment to be particularly important because at that early stage of research into hormones, it was still difficult to isolate naturally occurring hormones. Since then, BPA has proven to have complex developmental effects, but it has taken many researchers to sort out the details.

Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain. The domain responsible for the regulation of transcription is the DNA binding domain, which binds to DNA sequences called estrogen-responsive elements (EREs), found in enhancer regions of specific genes. By the binding of estrogen or an estrogen mimic to these enhancers, the target genes become activated and the proteins produced are involved in numerous cellular processes. With an estrogen mimic or xenoestrogen, such as diethylstilbestrol (DES), the negative regulation of certain genes during embryonic development can be devastating to the developing anatomy, especially the reproductive system.

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. In humans, incomplete closure of the neural tube during embryonic development results in anatomical abnormalities such as anencephaly (a severe lack of skull and brain), hydranencephaly (cerebral hemispheres replaced with sacs of cerebrospinal fluid), spina bifida occulta (incompletely closed lower spinal cord), iniencephaly (severe retroflexed head and spinal defects), and encephalocele (a sac-like protrusion from an opening somewhere along the midline of the skull).