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Mermaid Syndrome
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused femur. It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome. Presentation Sirenomelia is mainly characterized by the fusion of both legs with rotation of the fibula. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs. It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. NORD has a separate report on caudal regression syndrome. In general, the more se ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sirenomelia
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused femur. It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome. Presentation Sirenomelia is mainly characterized by the fusion of both legs with rotation of the fibula. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs. It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. NORD has a separate report on caudal regression syndrome. In general, the more seve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestinal Malrotation
Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus. Malrotation can refer to a spectrum of abnormal intestinal positioning, often including: * The small intestine found predominantly on the right side of the abdomen * The cecum displaced from its usual position in the right lower quadrant into the epigastrium or right hypochondrium * An absent or displaced ligament of Treitz * Fibrous peritoneal bands called bands of Ladd running across the vertical portion of the duodenum * An unusually narrow, stalk-like mesentery The position of the intestines, narrow mesentery and Ladd's bands can contribute to several severe gastrointestinal conditions. The narrow mesentery predisposes some cases of malrotation to midgut volvulus, a twisting of the entire small bowel that can obstruct the mesenteric b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stillbirth
Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can result in the feeling of guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and Sudden Infant Death Syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health systems. Around half of stillbirths occur durin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Miscarriage
Miscarriage, also known in medical terms as a spontaneous abortion and pregnancy loss, is the death of an embryo or fetus before it is able to survive independently. Miscarriage before 6 weeks of gestation is defined by ESHRE as biochemical loss. Once ultrasound or histological evidence shows that a pregnancy has existed, the used term is clinical miscarriage, which can be ''early'' before 12 weeks and ''late'' between 12-21 weeks. Fetal death after 20 weeks of gestation is also known as a stillbirth. The most common symptom of a miscarriage is vaginal bleeding with or without pain. Sadness, anxiety, and guilt may occur afterwards. Tissue and clot-like material may leave the uterus and pass through and out of the vagina. Recurrent miscarriage (also referred to medically as Recurrent Spontaneous Abortion or RSA) may also be considered a form of infertility. Risk factors for miscarriage include being an older parent, previous miscarriage, exposure to tobacco smoke, obesity, dia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligohydramnios
Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. It is typically diagnosed by ultrasound when the amniotic fluid index (AFI) measures less than 5 cm or when the single deepest pocket (SDP) of amniotic fluid measures less than 2 cm. Amniotic fluid is necessary to allow for normal fetal movement, lung development, and cushioning from uterine compression. Low amniotic fluid can be attributed to a maternal, fetal, placental or idiopathic cause and can result in poor fetal outcomes including death. The prognosis of the fetus is dependent on the etiology, gestational age at diagnosis, and the severity of the oligohydramnios. The opposite of oligohydramnios is polyhydramnios, or an excess of amniotic fluid. Etiology The amount of amniotic fluid available is based on how much fluid is produced and how much is removed from the amniotic sac. In the first trimester, t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obstetric Ultrasonography
Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a standard part of prenatal care in many countries, as it can provide a variety of information about the health of the mother, the timing and progress of the pregnancy, and the health and development of the embryo or fetus. The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) recommends that pregnant women have routine obstetric ultrasounds between 18 weeks' and 22 weeks' gestational age (the anatomy scan) in order to confirm pregnancy dating, to measure the fetus so that growth abnormalities can be recognized quickly later in pregnancy, and to assess for congenital malformations and multiple pregnancies (twins, etc). Additionally, the ISUOG recommends that pregnant patients who desire genetic testing have obstetric ultra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Morphogenetic Protein 7
Bone morphogenetic protein 7 or BMP7 (also known as osteogenic protein-1 or OP-1) is a protein that in humans is encoded by the ''BMP7'' gene. Function The protein encoded by this gene is a member of the TGF-β superfamily. Like other members of the bone morphogenetic protein family of proteins, it plays a key role in the transformation of mesenchymal cells into bone and cartilage. It is inhibited by noggin and a similar protein, chordin, which are expressed in the Spemann-Mangold Organizer. BMP7 may be involved in bone homeostasis. It is expressed in the brain, kidneys and bladder. BMP7 induces the phosphorylation of SMAD1 and SMAD5, which in turn induce transcription of numerous osteogenic genes. It has been demonstrated that BMP7 treatment is sufficient to induce all of the genetic markers of osteoblast differentiation in many cell types. Role in vertebrate development The role of BMP7 in mammalian kidney development is through induction of MET of the metanephrogenic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TSG101
Tumor susceptibility gene 101, also known as TSG101, is a human gene that encodes for a cellular protein of the same name. Function The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. The main role of TSG101 is to participate in ESCRT pathway. This pathway facilitates reverse topology budding and formation of multivesicular bodies (MVB) which delivers cargo d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cocaine
Cocaine (from , from , ultimately from Quechuan languages, Quechua: ''kúka'') is a central nervous system (CNS) stimulant mainly recreational drug use, used recreationally for its euphoria, euphoric effects. It is primarily obtained from the leaves of two Coca species native to South America, ''Erythroxylum coca'' and ''Erythroxylum novogranatense''. After extraction from coca leaves and further processing into cocaine hydrochloride (powdered cocaine), the drug is often Insufflation (medicine), snorted, applied topical administration, topically to the mouth, or dissolved and injection (medicine), injected into a vein. It can also then be turned into free base form (crack cocaine), in which it can be heated until sublimated and then the vapours can be smoking, inhaled. Cocaine stimulates the mesolimbic pathway, reward pathway in the brain. Mental effects may include an euphoria, intense feeling of happiness, sexual arousal, psychosis, loss of contact with reality, or psychomo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diabetes Mellitus
Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased appetite. If left untreated, diabetes can cause many health complications. Acute complications can include diabetic ketoacidosis, hyperosmolar hyperglycemic state, or death. Serious long-term complications include cardiovascular disease, stroke, chronic kidney disease, foot ulcers, damage to the nerves, damage to the eyes, and cognitive impairment. Diabetes is due to either the pancreas not producing enough insulin, or the cells of the body not responding properly to the insulin produced. Insulin is a hormone which is responsible for helping glucose from food get into cells to be used for energy. There are three main types of diabetes mellitus: * Type 1 diabetes results from failure of the pancreas to produce enough insulin due to lo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primitive Streak
The primitive streak is a structure that forms in the early embryo in amniotes. In amphibians the equivalent structure is the blastopore. During early embryonic development, the embryonic disc becomes oval shaped, and then pear-shaped with the broad end towards the anterior, and the narrower region projected to the posterior. The primitive streak forms a longitudinal midline structure in the narrower posterior (caudal) region of the developing embryo on its dorsal side. At first formation the primitive streak extends for half the length of the embryo. In the human embryo this appears by stage 6, about 17 days. The primitive streak establishes bilateral symmetry, determines the site of gastrulation, and initiates germ layer formation. To form the primitive streak mesenchymal stem cells are arranged along the prospective midline, establishing the second embryonic axis, and the site where cells will ingress and migrate during the process of gastrulation and germ layer formation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurulation
Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of the neural plate into the neural tube. The embryo at this stage is termed the neurula. The process begins when the notochord induces the formation of the central nervous system (CNS) by signaling the ectoderm germ layer above it to form the thick and flat neural plate. The neural plate folds in upon itself to form the neural tube, which will later differentiate into the spinal cord and the brain, eventually forming the central nervous system. Computer simulations found that cell wedging and differential proliferation are sufficient for mammalian neurulation. Different portions of the neural tube form by two different processes, called primary and secondary neurulation, in different species. * In primary neurulation, the neural plate creases inward until the edges come in contact and fuse. * In secondary neurulation, the tube forms by hollowing out of the interior of a solid precur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
