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Hypoplastic
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a Tissue (biology), tissue or Organ (biology), organ.Definition: hypoplasia
Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia
Stedman's Medical Dictionary. lww.com
Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of hyperplasia (too many cells). Hypoplasia is a congenital condition, while hyperpla ...
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Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. It is estimated to account for 2-3% of all congenital heart disease. Early signs and symptoms include poor feeding, cyanosis, and diminished pulse in the extremities. The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart. Several structures can be affected including the left ventricle, aorta, aortic valve, or mitral valve all resulting in decreased systemic blood flow. Diagnosis can occur prenatally via ultrasound or shortly after birth via echocardiography. Initial management is geared to maintaining patency of the ductus arteriosus - a connection between the pulmonary artery and the aorta that closes shortly after birth. Thereafter, a patient subsequently undergoes a three-stage palliative repair ...
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Hypoplastic Right Heart Syndrome
Hypoplastic right heart syndrome (HRHS) is a congenital heart defect in which the structures on the right side of the heart, particularly the right ventricle, are underdeveloped. This defect causes inadequate blood flow to the lungs, and thus a Blue baby syndrome, cyanotic infant. Symptoms and signs Common symptoms include a grayish-blue (cyanosis) coloration to the skin, lips, fingernails and other parts of the body. Other pronounced symptoms can be Hyperventilation, rapid or difficult breathing, poor feeding due to lack of energy, cold hands or feet, or being inactive and drowsy. Notably, patent ductus arteriosus and patent foramen ovale, normally dangerous defects, are necessary for a newborn with HRHS to survive. If either formation does close, the child will go into shock, signs of which can include cool or clammy skin, a weak or rapid pulse, and dilated pupils. Causes It is mostly unknown what causes hypoplastic right heart syndrome in a given individual. It is thought tha ...
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DiGeorge Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease. DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as ''22q11.2''. About 90% of cases occur due to a new mutation during early development, while 10% are inherited. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing. Although there is no cure, treatment can improve symptoms. This often includes a multidisci ...
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Heart
The heart is a muscular Organ (biology), organ found in humans and other animals. This organ pumps blood through the blood vessels. The heart and blood vessels together make the circulatory system. The pumped blood carries oxygen and nutrients to the tissue, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the thorax, chest, called the mediastinum. In humans, the heart is divided into four chambers: upper left and right Atrium (heart), atria and lower left and right Ventricle (heart), ventricles. Commonly, the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. In a healthy heart, blood flows one way through the heart due to heart valves, which prevent cardiac regurgitation, backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a sma ...
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Turner's Hypoplasia
Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in quantity, caused by defective enamel matrix formation during enamel development, as a result of inherited and acquired systemic condition(s). It can be identified as missing tooth structure and may manifest as pits or grooves in the crown of the affected teeth, and in extreme cases, some portions of the crown of the tooth may have no enamel, exposing the dentin. It may be generalized across the dentition or localized to a few teeth. Defects are categorized by shape or location. Common categories are pit-form, plane-form, linear-form, and localised enamel hypoplasia. Hypoplastic lesions are found in areas of the teeth where the enamel was being actively formed during a systemic or local disturbance. Since the formation of enamel extends over a long period of time, defects may be confined to one well-defined area of the affected teeth. Knowledge of chronological development of deciduous and permanen ...
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Reelin
Reelin, encoded by the ''RELN'' gene, is a large secreted extracellular matrix glycoprotein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this important role in early Developmental biology, development, reelin continues to work in the adult brain. It modulates synaptic plasticity by enhancing the induction and maintenance of long-term potentiation. It also stimulates dendrite and dendritic spine development in the hippocampus, and regulates the continuing migration of neuroblasts generated in adult neurogenesis sites of the subventricular zone, subventricular and subgranular zones. It is found not only in the brain but also in the liver, Thyroid, thyroid gland, adrenal gland, fallopian tube, breast and in comparatively lower levels across a range of anatomical regions. Reelin has been suggested to be implicated in pathogenesis of several brain diseases. The expression of the protein has ...
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Popliteal Pterygium Syndrome
Popliteal pterygium syndrome (PPS) is a rare inherited genetic disorder characterized by distinctive craniofacial, musculoskeletal and genitorourinary symptoms. It is primarily caused by a mutation to the ''IRF6'' gene and follows an autosomal dominant inheritance pattern. The syndrome is associated with many features such as popliteal webbing ( pterygium), cleft lip or palate, syndactyly, and genetic anomalies with the severity and expression of each symptom varying between affected individuals. PPS has an approximate incidence rate of 1 in every 300 000 live births. The condition was first described by Trélat in 1869 and later named by Gorlin and colleagues in 1968. The term '' pterygium'' is derived from the Greek word for "wing," referring to the wing-like tissue structures often observed in affected individuals. Symptoms and signs Clinical expressions of PPS are highly variable and display different combinations of abnormalities depending on the individual, but include the ...
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Optic Nerve
In neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN II, is a paired cranial nerve that transmits visual system, visual information from the retina to the brain. In humans, the optic nerve is derived from optic stalks during the seventh week of development and is composed of retinal ganglion cell axons and glial cells; it extends from the optic disc to the optic chiasma and continues as the optic tract to the lateral geniculate nucleus, Pretectal area, pretectal nuclei, and superior colliculus. Structure The optic nerve has been classified as the second of twelve paired cranial nerves, but it is technically a myelinated tract of the central nervous system, rather than a classical nerve of the peripheral nervous system because it is derived from an out-pouching of the diencephalon (optic stalks) during embryonic development. As a consequence, the fibers of the optic nerve are covered with myelin produced by oligodendrocytes, r ...
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Oral Pathology
Oral and maxillofacial pathology refers to the diseases of the mouth ("oral cavity" or "stoma"), jaws ("maxillae" or "gnath") and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin (the skin around the mouth). The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders. The specialty oral and maxillofacial pathology is concerned with diagnosis and study of the causes and effects of diseases affecting the oral and maxillofacial region. It is sometimes considered to be a specialty of dentistry and pathology. Sometimes the term head and neck pathology is used instead, which may indicate that the pathologist deals with otorhinolaryngologic disorders (i.e. ear, nose and throat) in addition to maxillofacial disorders. In this role there is some overlap between the expertise of head and neck pathologists and that of endocrine pathologists. Diagnosis The key to any dia ...
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Tooth
A tooth (: teeth) is a hard, calcified structure found in the jaws (or mouths) of many vertebrates and used to break down food. Some animals, particularly carnivores and omnivores, also use teeth to help with capturing or wounding prey, tearing food, for defensive purposes, to intimidate other animals often including their own, or to carry prey or their young. The roots of teeth are covered by gums. Teeth are not made of bone, but rather of multiple tissues of varying density and hardness that originate from the outermost embryonic germ layer, the ectoderm. The general structure of teeth is similar across the vertebrates, although there is considerable variation in their form and position. The teeth of mammals have deep roots, and this pattern is also found in some fish, and in crocodilians. In most teleost fish, however, the teeth are attached to the outer surface of the bone, while in lizards they are attached to the inner surface of the jaw by one side. In cartila ...
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Cerebellum
The cerebellum (: cerebella or cerebellums; Latin for 'little brain') is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as it or even larger. In humans, the cerebellum plays an important role in motor control and cognition, cognitive functions such as attention and language as well as emotion, emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to motor coordination, coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine motor skill, fine movement, sense of balance, equilibrium, list of human positions, posture, and motor learning in humans. ...
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