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Facial Femoral Syndrome
Facial femoral syndrome is a rare congenital disorder.Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G (2017) Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am J Med Genet A It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones ( femurs) and unusual facial features. Signs and symptoms * Facial ** Lips - Cleft palate and/or thin lips. Prominent philtrum ** Jaw - Small and/or retracted jaw (micrognathia/ retrognathia) ** Ears - Small or virtually absent ears ( microtia/ anotia) ** Eyes - Upwardly slanting eyelids * Skeleton ** Short limbs ( micromelia) ** Femurs - absent/abnormal ** Fused bones of the spine (sacrum and coccyx) ** Deformation of the foot that may be turned outward or inward (( talip ...
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Birth Defect
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may ...
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Polydactyly
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial (thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2 ...
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Dysplasia
Dysplasia is any of various types of abnormal growth or development of cells ( microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney. In one of the modern histopathological senses of the term, dysplasia is sometimes differentiated from other categories of tissue change including hyperplasia, metaplasia, and neoplasia, and dysplasias are thus generally not cancerous. An exception is that the myelodysplasias include a range of benign, precancerous, and cancerous forms. Various other dysplasias tend to be precancerous. The word's meanings thus cover a spectrum of histopathological variations. Microscopic scale Epithelial dysplasia Epithelial dysplasia consists of an exp ...
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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, ...
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Radiation
In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or through a material medium. This includes: * ''electromagnetic radiation'', such as radio waves, microwaves, infrared, visible light, ultraviolet, x-rays, and gamma radiation (γ) * '' particle radiation'', such as alpha radiation (α), beta radiation (β), proton radiation and neutron radiation (particles of non-zero rest energy) * '' acoustic radiation'', such as ultrasound, sound, and seismic waves (dependent on a physical transmission medium) * '' gravitational radiation'', that takes the form of gravitational waves, or ripples in the curvature of spacetime Radiation is often categorized as either '' ionizing'' or '' non-ionizing'' depending on the energy of the radiated particles. Ionizing radiation carries more than 10 eV, which is enough to ionize atoms and molecules and break chemical bonds. This is an important distinction due to the large ...
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Viral Infections
A viral disease (or viral infection) occurs when an organism's body is invaded by pathogenic viruses, and infectious virus particles (virions) attach to and enter susceptible cells. Structural Characteristics Basic structural characteristics, such as genome type, virion shape and replication site, generally share the same features among virus species within the same family. * Double-stranded DNA families: three are non-enveloped ('' Adenoviridae'', '' Papillomaviridae'' and '' Polyomaviridae'') and two are enveloped (''Herpesviridae'' and '' Poxviridae''). All of the non-enveloped families have icosahedral capsids. * Partly double-stranded DNA viruses: '' Hepadnaviridae''. These viruses are enveloped. * One family of single-stranded DNA viruses infects humans: '' Parvoviridae''. These viruses are non-enveloped. * Positive single-stranded RNA families: three non-enveloped (''Astroviridae'', ''Caliciviridae'' and ''Picornaviridae'') and four enveloped ('' Coronaviridae'', '' F ...
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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 ...
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Maternal
] A mother is the female parent of a child. A woman may be considered a mother by virtue of having given birth, by raising a child who may or may not be her biological offspring, or by supplying her ovum for fertilisation in the case of gestational surrogacy. An adoptive mother is a female who has become the child's parent through the legal process of adoption. A biological mother is the female genetic contributor to the creation of the infant, through sexual intercourse or egg donation. A biological mother may have legal obligations to a child not raised by her, such as an obligation of monetary support. A putative mother is a female whose biological relationship to a child is alleged but has not been established. A stepmother is a woman who is married to a child's father and they may form a family unit, but who generally does not have the legal rights and responsibilities of a parent in relation to the child. A father is the male counterpart of a mother. Women who are ...
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the con ...
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Patent Ductus Arteriosus
''Patent ductus arteriosus'' (PDA) is a medical condition in which the '' ductus arteriosus'' fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which has a higher pressure, to the pulmonary artery. Symptoms are uncommon at birth and shortly thereafter, but later in the first year of life there is often the onset of an increased work of breathing and failure to gain weight at a normal rate. With time, an uncorrected PDA usually leads to pulmonary hypertension followed by right-sided heart failure. The ''ductus arteriosus'' is a fetal blood vessel that normally closes soon after birth. In a PDA, the vessel does not close, but remains ''patent'' (open), resulting in an abnormal transmission of blood from the aorta to the pulmonary artery. PDA is common in newborns with persistent respiratory problems such as hypoxia, and has a high occurrence in premature newborns. Premature newborns a ...
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Lung
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the left ...
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Genitourinary System
The genitourinary system, or urogenital system, are the organs of the reproductive system and the urinary system. These are grouped together because of their proximity to each other, their common embryological origin and the use of common pathways, like the male urethra. Also, because of their proximity, the systems are sometimes imaged together. The term "apparatus urogenitalis" was used in '' Nomina Anatomica'' (under Splanchnologia) but is not used in the current ''Terminologia Anatomica''. Development The urinary and reproductive organs are developed from the intermediate mesoderm. The permanent organs of the adult are preceded by a set of structures that are purely embryonic and that, with the exception of the ducts, disappear almost entirely before the end of fetal life. These embryonic structures are on either side: the pronephros, the mesonephros and the metanephros of the kidney, and the Wolffian and Müllerian ducts of the sex organ. The pronephros disappears ...
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