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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

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

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

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

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

James Marion Sims (1813-1883)

James Marion Sims developed a surgical cure for ruptures of the wall separating the bladder from the vagina during labor, ruptures called vesico-vaginal fistulas, and he developed techniques and tools used to improve reproductive examinations and health care for women in the US during the nineteenth century. Sims's lateral examination position allowed doctors to better see the vaginal cavity, and his speculum, a spoon-like object used for increased view into the vagina, helped to make gynecological examinations more thorough.

Format: Articles

Subject: People, Reproduction

James Marion Sims's Treatment of Vesico-Vaginal Fistula

James Marion Sims developed a treatment for vesico-vaginal fistulas in Montgomery, Alabama in the 1840s. Vesico-vaginal fistulas were a relatively common condition in which a woman's urine leaked into her vaginal cavity from her bladder, and many regarded the fistulas as untreatable during the early 1800s. After years of efforts to repair the fistulas with myriad tools, techniques, and procedures, Sims developed the speculum and a vaginal examination position later named for him.

Format: Articles

Subject: Technologies, Reproduction

“The Infectious Origins of Stillbirth” (2003) by Robert L. Goldenberg and Cortney Thompson

In September 2003, Robert L. Goldenberg and Cortney Thompson published the article “The Infectious Origins of Stillbirth” in the American Journal of Obstetrics and Gynecology. In the article, the authors conducted a literature review of articles from the US National Library of Medicine database to review the relationship between perinatal infections, which are infections around the time of birth, and the occurrence of stillbirth. Stillbirth is the death of a fetus in the uterus after at least twenty weeks of pregnancy.

Format: Articles

Subject: Reproduction, Publications

Methylmercury and Human Embryonic Development

Methylmercury (MeHg) is an organic form of mercury that can damage the developing brains of human fetuses. Women who consume methylmercury during pregnancy can bear children who have neurological issues because methylmercury has toxic effects on the nervous system during embryonic development. During the third week of gestation, the human nervous system begins to form in the embryo. During this gestational period, the embryo's nervous system is particularly susceptible to the influence of neurotoxins like methylmercury that can result in abnormalities.

Format: Articles

Subject: Reproduction, Disorders

“Pelvic Organ Prolapse Quantification System (POP-Q) - A New Era in Pelvic Prolapse Staging” (2011), by Cristian Persu, Christopher Chapple, Victor Cauni, Stefan Gutue, and Petrisor Geavlete

In 2011, Cristian Persu, Christopher Chapple, Victor Cauni, Stefan Gutue, and Petrisor Geavlete published “Pelvic Organ Prolapse Quantification System (POP-Q) – A New Era in Pelvic Prolapse Staging,” in the Journal of Medicine and Life. In their article, the authors explain the need for a reliable diagnostic method for describing the state of a pelvic organ prolapse, or a condition that can result from weakness or damage to the muscles that support the pelvic organs, sometimes leading to bladder, bowel, and sexual dysfunction.

Format: Articles

Subject: Publications, Processes, Reproduction

“The Intergenerational Effects of Fetal Programming: Non-genomic Mechanisms for the Inheritance of Low Birth Weight and Cardiovascular Risk” (2004), by Amanda J. Drake and Brian R. Walker

In 2004, Amanda J. Drake and Brian R. Walker published “The Intergenerational Effects of Fetal Programming: Non-genomic Mechanisms for the Inheritance of Low Birth Weight and Cardiovascular Risk,” hereafter, “The Intergenerational Effects,” in the Journal of Endocrinology. In their article, the authors assert that cardiovascular disease may develop via fetal programming, which is when a certain event occurring during a critical point of pregnancy affects the fetus long after birth.

Format: Articles

Subject: Publications, Theories, Reproduction

"Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals" (1939), by Abner Wolf et al.

In a series of experiments during mid 1930s, a team of researchers in New York helped establish that bacteria of the species Toxoplasma gondii can infect humans, and in infants can cause toxoplasmosis, a disease that inflames brains, lungs, and hearts, and that can organisms that have it. The team included Abner Wolf, David Cowen, and Beryl Paige. They published the results of their experiment in Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals.

Format: Articles

Subject: Experiments, Reproduction, Disorders

“Some of the Uses of Electricity in Gynecology,” (1901) by William Henry Walling

In 1901, physician William Henry Walling published the article, Some of the Uses of Electricity in Gynecology, in the January issue of the American Gynecological and Obstetrical Journal. Walling was a practicing gynecologist who studied electro-therapeutics, or the use of electricity in medicine for the treatment of disease, which was an emerging topic during the late 1800s. Walling stated that proper administration of electrical current to a woman’s vagina, uterus, bladder, or rectum could be therapeutic for gynecological diseases.

Format: Articles

Subject: Reproduction, Theories, Publications

“Effects of Maternal Age, Parity, and Smoking on the Risk of Stillbirth” (1994), by Elizabeth Raymond, Sven Cnattingius, and John Kiely

In April 1994, Elizabeth Raymond, Sven Cnattingius, and John Kiely published “Effects of Maternal Age, Parity, and Smoking on the Risk of Stillbirth” in the British Journal of Obstetrics and Gynecology, now known as BJOG: An International Journal of Obstetrics and Gynecology. The article examines how advanced maternal age, defined as delivery at thirty-five years old or older, cigarette smoking, and nulliparity, or the state of never having given birth, can negatively impact pregnancy.

Format: Articles

Subject: Reproduction, Publications

Orchiopexy

Orchiopexy, also known as orchidopexy, is a surgical technique that can correct cryptorchidism and was successfully performed for one of the first times in 1877 in Scotland. Cryptorchidism, a condition where one or both of the testicles fail to descend before birth, is one of the most common male genital birth defects, affecting approximately 2 to 8 percent of full-term male infants, and around 33 percent of premature infants. Typically in the womb, male testes form within the abdomen, then descend into the scrotal area between twenty-five to thirty-five weeks’ gestation.

Format: Articles

Subject: Technologies, Disorders, Reproduction

Oral Glucose Tolerance Test for Gestational Diabetes

In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019.

Format: Articles

Subject: Technologies, Reproduction, Experiments

“Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-to-Child Transmission of HIV...” (2018), by Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe

In 2018, researchers Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe published, “Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-To-Child Transmission of HIV in a sub-Saharan African Region with High Transmission Rate: Some Solutions Proposed,” in BMC Pregnancy and Childbirth.

Format: Articles

Subject: Publications, Reproduction, Disorders

Fetal Programming

Fetal programming, or prenatal programming, is a concept that suggests certain events occurring during critical points of pregnancy may cause permanent effects on the fetus and the infant long after birth. The concept of fetal programming stemmed from the fetal origins hypothesis, also known as Barker’s hypothesis, that David Barker proposed in 1995 at the University of Southampton in Southampton, England.

Format: Articles

Subject: Processes, Theories, Reproduction

Endometriosis

Endometriosis is a medical condition that involves abnormal growths of tissue resembling the endometrium, which is the tissue that lines the inside of the uterus. Those growths, called endometrial lesions, typically form outside the uterus, but can spread to other reproductive organs such as ovaries and fallopian tubes. Endometrial lesions swell and bleed during menstruation, which can cause painful and heavy menstruation, as well as infertility.

Format: Articles

Subject: Disorders, Reproduction, Theories

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

"Transfer of Fetal Cells with Multilineage Potential to Maternal Tissue" (2004), by Kiarash Khosrotehrani et al.

In 2004, a team of researchers at Tufts-New England
Medical Center in Boston, Massachusetts, investigated the fetal
cells that remained in the maternal blood stream after pregnancy.
The results were published in Transfer of Fetal Cells with
Multilineage Potential to Maternal Tissue. The team working on that
research included Kiarash Khosrotehrani, Kirby L. Johnson, Dong
Hyun Cha, Robert N. Salomon, and Diana W. Bianchi. The researchers
reported that the fetal cells passed to a pregnant woman during

Format: Articles

Subject: Experiments, Reproduction

Trisomy 21 (Down Syndrome)

As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease.

Format: Articles

Subject: Reproduction, Disorders, Ethics

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

Amniocentesis

Amniocentesis is a test used for prenatal diagnosis of inherited diseases, Rh incompatibility, neural tube defects, and lung maturity. Normally performed during the second trimester of a pregnancy, this invasive procedure allows the detection of health problems in the fetus as early as fifteen weeks gestation. Although amniocentesis does carry some significant risks, the medical community commonly accepts it as a safe and useful procedure.

Format: Articles

Subject: Technologies, Reproduction

Rh Incompatibility in Pregnancy

Rh incompatibility occurs when a pregnant woman whose blood type is Rh-negative is exposed to Rh-positive blood from her fetus, leading to the mother s development of Rh antibodies. These antibodies have the potential to cross the placenta and attach to fetal red blood cells, resulting in hemolysis, or destruction of the fetus 's red blood cells. This causes the fetus to become anemic, which can lead to hemolytic disease of the newborn. In severe cases, an intrauterine blood transfusion for the fetus may be required to correct the anemia.

Format: Articles

Subject: Processes, Disorders, Reproduction

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