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Asplenia With Cardiovascular Anomalies
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys. Another name is "asplenia-cardiovascular defect-heterotaxy". Right atrial isomerism is named for its discoverer, Swedish pathologist Biörn Ivemark. Presentation In right atrial isomerism, both atria of the heart are morphological right atria leading to associated abnormalities in the pulmonary venous system. In addition, individuals with right atrial isomerism develop asplenia, a midline liver, malrotation of the small intestine and the presence of two morphologic right lungs. Individuals with left atrial isomerism, by comparison, have two morphologic left atria, polysplenia, intestinal malrotation and two morphologic left lungs. The majority of cases present at the time of birth or within a few days or weeks. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Situs Ambiguus
Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Clinically heterotaxy spectrum generally refers to any defect of Left-right asymmetry and arrangement of the visceral organs; however, classical heterotaxy requires multiple organs to be affected. This does not include the congenital defect situs inversus, which results when arrangement of all the organs in the abdomen and chest are mirrored, so the positions are opposite the normal placement. Situs inversus is the mirror image of situs solitus, which is normal asymmetric distribution of the abdominothoracic visceral organs. Situs ambiguus can also be subdivided into left-isomerism and right isomerism based on the defects observed in the spleen, lungs and atria of the heart. Individuals with situs inversus or situs solitus do not experience fatal dysfunction of their organ systems, as general anatomy and morphology of the abdominothoracic organ-vess ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
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 b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biörn Ivemark
Biörn Ivemark (4 May 1925 – 25 March 2005) was a Swedish pediatrician and pathologist. He is credited with characterizing asplenia with cardiovascular anomalies, also sometimes known as "Ivemark syndrome". Born in Karlstad, Ivemark graduated from Karolinska Institutet (with a med.lic. degree) in 1951 and received his research doctorate in 1955.Ivemark, Biörn I., ''Implications of agenesis of the spleen on the pathogenesis of cono-truncus anomalies in childhood: An analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases'', Diss. Stockholm : Karol. inst.,Stockholm, 1955; LIBRISbr>record/ref> He died at Carcassonne, in southern France France (), officially the French Republic ( ), is a country primarily located in Western Europe. It also comprises of overseas regions and territories in the Americas and the Atlantic, Pacific and Indian Oceans. Its metropolitan ar ..., in 2005. References 1925 births 2005 deaths S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asplenia
Asplenia refers to the absence of normal spleen function and is associated with some serious infection risks. Hyposplenism is used to describe reduced ('hypo-') splenic functioning, but not as severely affected as with asplenism. ''Functional'' asplenia occurs when splenic tissue is present but does not work well (e.g. sickle-cell disease, polysplenia) -such patients are managed as if asplenic-, while in ''anatomic'' asplenia, the spleen itself is absent. Causes Congenital * Congenital asplenia is rare. There are two distinct types of genetic disorders: heterotaxy syndromeOnline Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University/ref> and isolated congenital asplenia.Online Mendelian Inheritance in Man. Johns Hopkins UniversityOMIM entry 271400: Asplenia, isolated congenital; ICAS./ref> * polysplenia Acquired Acquired asplenia occurs for several reasons: * Following splenectomy due to splenic rupture from trauma or because ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polysplenia
Polysplenia is a congenital disease manifested by multiple small accessory spleens, rather than a single, full-sized, normal spleen. Polysplenia sometimes occurs alone, but it is often accompanied by other developmental abnormalities. Conditions associated with polysplenia include gastrointestinal abnormalities, such as intestinal malrotation or biliary atresia, as well as cardiac abnormalities, such as dextrocardia. Associated conditions There are frequent associated congenital anomalies all related to deviations in the development of anatomical asymmetries in early embryonic stages. These conditions considered together are called "polysplenia syndrome". Associated conditions include heterotaxy syndrome, intestinal malrotation, situs inversus, biliary atresia, and several cardiac malformations. Associated cardiac conditions include dextrocardia Dextrocardia (from Latin ''dextro'', meaning "right hand side," and Greek ''kardia'', meaning "heart") is a rare congenital condi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyanosis
Cyanosis is the change of body tissue color to a bluish-purple hue as a result of having decreased amounts of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Body tissues that show cyanosis are usually in locations where the skin is thinner, including the mucous membranes, lips, nail beds, and ear lobes. Some medications containing amiodarone or silver, Mongolian spots, large birth marks, and the consumption of food products with blue or purple dyes can also result in the bluish skin tissue discoloration and may be mistaken for cyanosis. Cyanosis is further classified into central cyanosis vs. peripheral cyanosis. Pathophysiology The mechanism behind cyanosis is different depending on whether it is central or peripheral. Central cyanosis Central cyanosis is caused by a decrease in arterial oxygen saturation (SaO2) and begins to show once the concentration of deoxyhemoglobin in the blood reaches a concentration of ≥ 5.0 g/dL (≥ 3.1 mmol/L ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dorset
Dorset ( ; archaically: Dorsetshire , ) is a county in South West England on the English Channel coast. The ceremonial county comprises the unitary authority areas of Bournemouth, Christchurch and Poole and Dorset. Covering an area of , Dorset borders Devon to the west, Somerset to the north-west, Wiltshire to the north-east, and Hampshire to the east. The county town is Dorchester, in the south. After the reorganisation of local government in 1974, the county border was extended eastward to incorporate the Hampshire towns of Bournemouth and Christchurch. Around half of the population lives in the South East Dorset conurbation, while the rest of the county is largely rural with a low population density. The county has a long history of human settlement stretching back to the Neolithic era. The Romans conquered Dorset's indigenous Celtic tribe, and during the Early Middle Ages, the Saxons settled the area and made Dorset a shire in the 7th century. The first re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
