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Hydrocephalus During Infancy

Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death.

Format: Articles

Subject: Disorders

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

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

Trisomy 18 (Edwards Syndrome)

John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.

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

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

“Levator Trauma is Associated with Pelvic Organ Prolapse” (2008), by Hans P. Dietz and Judy M. Simpson

Hans Peter Dietz and Judy Simpson published, “Levator Trauma is Associated with Pelvic Organ Prolapse,” in the journal BJOG: An International Journal of Obstetrics and Gynecology in 2008. In their article, Dietz and Simpson estimated the risk of pelvic organ prolapse in women who attained injuries to the pelvic levator muscles. The levator muscles, also known as the levator ani, are a major muscle group that comprise the pelvic floor. Along with other muscles, the pelvic floor supports organs in a woman’s pelvis, such as the bladder, uterus, and rectum.

Format: Articles

Subject: Publications, Disorders

Teratomas

Teratomas are embryonal tumors that normally arise from germ cells and are typically benign. They are defined as being composed either of tissues that are foreign to the area in which they form, or of tissues that derive from all three of the germ layers. Malignant teratomas are known as teratocarcinomas; these cancerous growths have played a pivotal role in the discovery of stem cells. "Teratoma" is Greek for "monstrous tumor"; these tumors were so named because they sometimes contain hair, teeth, bone, neurons, and even eyes.

Format: Articles

Subject: Processes, 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

Jeffrey Weinzweig's Experiments on In Utero Cleft Palate Repair in Goats (1999-2002)

Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb.

Format: Articles

Subject: Experiments, Disorders

Emma Wolverton (1889–1978)

Emma Wolverton, also known as Deborah Kallikak, lived her entire life in an institution in New Jersey after psychologist Henry Goddard classified her as feeble-minded. He also wrote a book about Wolverton and her family that psychiatrists previously used to show that intellectual disability is hereditary. At the time, researchers in the psychology field, including Goddard, were working to understand differences in people’s intellectual abilities. They used the term feeble-minded to refer to those they described as having lower intellectual functioning.

Format: Articles

Subject: People, Disorders

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

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

Conjoined Twins

Conjoined twins are twins whose bodies are anatomically joined in utero. The degree to which the twins are attached can range from simple, involving skin and cartilage, to complex, including fusion of the skull(s), brain(s), or other vital organs. There are more than a dozen classifications of conjoined twins but what they all tend to have in common is the sharing of the chorion, placenta, and amniotic sac.

Format: Articles

Subject: Disorders, Reproduction

Gestational Diabetes

Gestational diabetes is a medical condition that causes blood sugar levels to become abnormally high, which manifests for the first-time during pregnancy and typically disappears immediately after birth for around ninety percent of affected women. While many women with the condition do not experience any noticeable symptoms, some may experience increased thirst and urination.

Format: Articles

Subject: Reproduction, Disorders

Cocaine as a Teratogen

Cocaine use by pregnant women has a variety of effects on the embryo and fetus, ranging from various gastro-intestinal and cardiac defects to tissue death from insufficient blood supply. Thus, cocaine has been termed a teratogen, or an agent that causes defects in fetuses during prenatal development. Cocaine is one of the most commonly used drugs in the US and it has a history of both medical and illegal recreational use. It is a drug capable of a wide array of effects on physical and mental health.

Format: Articles

Subject: Reproduction, Disorders

Effects of Prenatal Alcohol Exposure on Basal Ganglia Development

Prenatal exposure to alcohol (ethanol) in human and animal models results in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The basal ganglia, one of the central nervous system components, are affected by exposure to ethanol during development.

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

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 Effects of Bisphenol A on 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.

Format: Articles

Subject: Disorders, Reproduction

Amenorrhea as a Menstrual Disorder

Amenorrhea is considered a type of abnormal menstrual bleeding characterized by the unexpected absence of menstrual bleeding, lasting three months or longer. Menstrual bleeding typically happens approximately once a month when blood and endometrial tissue, or tissue lining the inside of the uterus, sheds from the uterus through the vagina. Menstruation is expected to stop with pregnancy, breastfeeding, and menopause, or the natural cessation of the menstrual cycle at an older age.

Format: Articles

Subject: Disorders, Reproduction

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

Effects of Prenatal Alcohol Exposure on Central Nervous System Development

Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). The CNS is particularly vulnerable to the effects of ethanol during prenatal development.

Format: Articles

Subject: Disorders, Reproduction

Developmental Timeline of Alcohol-Induced Birth Defects

Maternal consumption of alcohol (ethanol) during pregnancy can result in a continuum of embryonic developmental abnormalities that vary depending on the severity, duration, and frequency of exposure of ethanol during gestation. Alcohol is a teratogen, an environmental agent that impacts the normal development of an embryo or fetus. In addition to dose-related concerns, factors such as maternal genetics and metabolism and the timing of alcohol exposure during prenatal development also impact alcohol-related birth defects.

Format: Articles

Subject: Disorders, Reproduction

Parasitic Twins

Parasitic twins, a specific type of conjoined twins, occurs when one twin ceases development during gestation and becomes vestigial to the fully formed dominant twin, called the autositic twin. The underdeveloped twin is called parasitic because it is only partially formed, is not functional, or is wholly dependent on the autositic twin.

Format: Articles

Subject: Disorders, Reproduction