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Alagille's Syndrome
Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969. Children with Alagille syndrome live to the age of 18 in about 90% of the cases. Signs and symptoms The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed, to severe heart and/or liver disease that requires transplantation. It is uncommon, but Alagille syndrome can be a life-threatening disease with a mortality rate of 10%. The majority of deaths from ALGS are typically due to heart complications or chronic liver failure. Liver Signs and symptoms arising from liver d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Failure To Thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as no single objective standard or universally accepted definition exists for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the fifth percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
JAG1
Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch signaling pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand) interactions take place, a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes. Located on human chromosome 20, the ''JAG1'' gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. ''JAG1'' has also been designated as CD339 (cluster of differentiation 339). Structure and function JAG1 was first identified as a ligand that was able to activate notch receptors when the rat gene ''Jagged'' encoding a protein homolog was cloned in 1995. The structure of the JAG1 protein includes a s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal artery, renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the urinary bladder, bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, Acid-base homeostasis, acid-base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus (kidney), glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholestatic Liver Disease
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build up in the liver, a condition called cholestasis. Further slow damage to the liver tissue can lead to scarring, fibrosis, and eventually cirrhosis. Common symptoms are tiredness, itching, and in more advanced cases, jaundice. In early cases, the only changes may be those seen in blood tests. PBC is a relatively rare disease, affecting up to one in 3,000–4,000 people. As with many other autoimmune diseases, it is much more common in women, with a sex ratio of at least 9:1 female to male. The reasons for this disparity are unclear, but may involve the expression of sex hormones such as estrogen, which impact immune system response. The condition has been recognised since at least 1851, and was named "primary biliary cirrhosis" in 19 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Chamber Of Eyeball
The anterior chamber (Optometric Abbreviations#AC, AC) is the aqueous humor-filled space inside the eye between the iris (anatomy), iris and the cornea's innermost surface, the Corneal endothelium, endothelium. Hyphema, Uveitis, anterior uveitis and glaucoma are three main pathologies in this area. In hyphema, blood fills the anterior chamber as a result of a hemorrhage, most commonly after a blunt eye injury. Anterior uveitis is an inflammatory process affecting the iris (anatomy), iris and ciliary body, with resulting inflammatory signs in the anterior chamber. In glaucoma, blockage of the trabecular meshwork prevents the normal outflow of aqueous humour, resulting in increased intraocular pressure, progressive damage to the optic nerve head, and eventually blindness. The depth of the anterior chamber of the eye varies between 1.5 and 4.0 mm, averaging 3.0 mm. It tends to become shallower at older age and in eyes with Far-sightedness, hypermetropia (far sightedness) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Eye
The human eye is a sensory organ in the visual system that reacts to light, visible light allowing eyesight. Other functions include maintaining the circadian rhythm, and Balance (ability), keeping balance. The eye can be considered as a living optics, optical device. It is approximately spherical in shape, with its outer layers, such as the outermost, white part of the eye (the sclera) and one of its inner layers (the pigmented choroid) keeping the eye essentially stray light, light tight except on the eye's optic axis. In order, along the optic axis, the optical components consist of a first lens (the cornea, cornea—the clear part of the eye) that accounts for most of the optical power of the eye and accomplishes most of the Focus (optics), focusing of light from the outside world; then an aperture (the pupil) in a Diaphragm (optics), diaphragm (the Iris (anatomy), iris—the coloured part of the eye) that controls the amount of light entering the interior of the eye; then an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Butterfly Vertebrae
Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae. Lumbarization and sacralization ''Lumbarization'' is an anomaly in the spine. It is defined by the nonfusion of the first and second segments of the sacrum. The lumbar spine subsequently appears to have six vertebrae or segments, not five. This sixth lumbar vertebra is known as a transitional vertebra. Conversely the sacrum appears to have only four segments instead of its designated five segments. Lumbosacral transitional vertebrae consist of the process of the last lumbar vertebra fusing with the first sacral segment. While only around 10 percent of adults have a spinal abnormality due to genetics, a sixth lumbar vertebra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetralogy Of Fallot
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are: * Pulmonary stenosis, which is narrowing of the exit from the right ventricle; * A ventricular septal defect, which is a hole allowing blood to flow between the two ventricles; * Right ventricular hypertrophy, which is thickening of the right ventricular muscle; and * an overriding aorta, which is where the aorta expands to allow blood from both ventricles to enter. At birth, children may be asymptomatic or present with many severe symptoms. Later in infancy, there are typically episodes of bluish colour to the skin due to a lack of sufficient oxygenation, known as cyanosis. When affected babies cry or have a bowel movement, they may undergo a "tet spell" where they turn cyanotic, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart mur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatocellular Cancer
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide. HCC most commonly occurs in those with chronic liver disease especially those with cirrhosis or fibrosis, which occur in the setting of chronic liver injury and inflammation. HCC is rare in those without chronic liver disease. Chronic liver diseases which greatly increase the risk of HCC include hepatitis infection such as (hepatitis B, C or D), non-alcoholic steatohepatitis (NASH), alcoholic liver disease, or exposure to toxins such as aflatoxin, or pyrrolizidine alkaloids. Certain diseases, such as hemochromatosis and alpha 1-antitrypsin deficiency, markedly increase the risk of developing HCC. The five-year survival in those with HCC is 18%. As with any cancer, the treatment and prognosis of HCC varies depending on tumor histology, size, how far t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
