|
Hunter Syndrome
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder, inherited lysosomal storage disease in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. Hunter syndrome is caused by a deficiency of the lysosome, lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. The symptoms of Hunter syndrome are comparable to those of Mucopolysaccharidosis type I, MPS I. It causes abnormalities in many organs, including the skeleton, heart, and respiratory system. In severe cases, this leads to death during the teenage years. Unlike MPS I, Corneal dystrophy, corneal clouding is not associated with this disease. Signs and symptoms Hunter syndrome may present with a wide variety of phenotypes. It has traditionally been categorized ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iduronate-2-sulfatase
Iduronate 2-sulfatase (EC 3.1.6.13; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. Function Iduronate 2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome. At least 174 disease-causing mutations in this gene have been discovered. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described. See also * Idursulfase References Further reading * * * * * * * * * * * * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharido ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdominal Hernia
A hernia (: hernias or herniae, from Latin, meaning 'rupture') is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the intestinal tract, referring to the retraction of the intestine from the extra-embryonal navel coelom into the abdomen in the healthy embryo at about 7 weeks. Various types of hernias can occur, most commonly involving the abdomen, and specifically the groin. Groin hernias are most commonly inguinal hernias but may also be femoral hernias. Other types of hernias include hiatus, incisional, and umbilical hernias. Symptoms are present in about 66% of people with groin hernias. This may include pain or discomfort in the lower abdomen, especially with coughing, exercise, or urinating or defecating. Often, it gets worse throughout the day and improves when lying down. A bulge may appear at the site of hernia, that becomes larger when ben ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carpal Tunnel Syndrome
Carpal tunnel syndrome (CTS) is a nerve compression syndrome associated with the collected signs and symptoms of Pathophysiology of nerve entrapment#Compression, compression of the median nerve at the carpal tunnel in the wrist. Carpal tunnel syndrome usually has no known cause, but there are environmental and medical risk factors associated with the condition.> CTS can affect both wrists. Other conditions can cause CTS such as wrist fracture or rheumatoid arthritis. After fracture, the resulting swelling, bleeding, and deformity compress the median nerve. With rheumatoid arthritis, the enlarged synovial membrane, synovial lining of the tendons causes compression. The main symptoms are numbness and Paresthesia, tingling of the thumb, index finger, middle finger, and the thumb side of the ring finger, as well as pain in the hand and fingers. Symptoms are typically most troublesome at night. Many people sleep with their wrists bent, and the ensuing symptoms may lead to awake ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joint Stiffness
Joint stiffness may be either the symptom of pain on moving a joint, the symptom of loss of range of motion or the physical sign of reduced range of motion. * Pain on movement is commonly caused by osteoarthritis, often in quite minor degrees, and other forms of arthritis. It may also be caused by injury or overuse and rarely by more complex causes of pain such as infection or neoplasm. The range of motion may be normal or limited by pain. "Morning stiffness" pain which eases up after the joint has been used, is characteristic of rheumatoid arthritis. * Loss of motion (symptom): the patient notices that the joint (or many joints) do not move as far as they used to or need to. Loss of motion is a feature of more advanced stages of arthritis including osteoarthritis, rheumatoid arthritis and ankylosing spondylitis. * Loss of range of motion ( sign): the examining medical professional notes that the range of motion of the joint is less than normal. Routine examination by an ortho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joints
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw-Hill Connect. Webp.274/ref> They are constructed to allow for different degrees and types of movement. Some joints, such as the knee, elbow, and shoulder, are self-lubricating, almost frictionless, and are able to withstand compression and maintain heavy loads while still executing smooth and precise movements. Other joints such as suture (joint), sutures between the bones of the skull permit very little movement (only during birth) in order to protect the brain and the sense organs. The connection between a tooth and the jawbone is also called a joint, and is described as a fibrous joint known as a gomphosis. Joints are classified both structurally and functionally. Joints play a vital role in the human body, contributing to movement, sta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastric Distension
Gastric distention is the enlargement of the stomach, and can be due to a number of causes. Physiologic (normal) gastric distension occurs when eating. Distension of the upper stomach stimulates the secretion of stomach acid, while distension of the lower stomach stimulates gastrin secretion. Distension of the stomach also stimulates the secretion of ghrelin. Other causes include: * binge eating Binge eating is a pattern of disordered eating which consists of episodes of uncontrollable eating. It is a common symptom of eating disorders such as binge eating disorder and bulimia nervosa. During such binges, a person rapidly consumes an exc ... associated with bulimia nervosa * tumors causing obstruction * diabetic neuropathy * scarring due to pyloric gastritis * delayed gastric emptying To identify the cause of gastric distention, an upper endoscopy or barium upper GI imaging should be done. References {{reflist Symptoms and signs: Digestive system and abdomen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spleen
The spleen (, from Ancient Greek '' σπλήν'', splḗn) is an organ (biology), organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The spleen plays important roles in regard to red blood cells (erythrocytes) and the immune system. It removes old red blood cells and holds a reserve of blood, which can be valuable in case of Shock (circulatory), hemorrhagic shock, and also Human iron metabolism, recycles iron. As a part of the mononuclear phagocyte system, it metabolizes hemoglobin removed from senescent red blood cells. The globin portion of hemoglobin is degraded to its constitutive amino acids, and the heme portion is metabolized to bilirubin, which is removed in the liver. The spleen houses antibody-producing lymphocytes in its white pulp and monocytes which remove antibody-coated bacteria and antibody-coated blood cells by way of blood and lymph node circulation. These monocytes, upon moving to injured ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major metabolic organ (anatomy), organ exclusively found in vertebrates, which performs many essential biological Function (biology), functions such as detoxification of the organism, and the Protein biosynthesis, synthesis of various proteins and various other Biochemistry, biochemicals necessary for digestion and growth. In humans, it is located in the quadrants and regions of abdomen, right upper quadrant of the abdomen, below the thoracic diaphragm, diaphragm and mostly shielded by the lower right rib cage. Its other metabolic roles include carbohydrate metabolism, the production of a number of hormones, conversion and storage of nutrients such as glucose and glycogen, and the decomposition of red blood cells. Anatomical and medical terminology often use the prefix List of medical roots, suffixes and prefixes#H, ''hepat-'' from ἡπατο-, from the Greek language, Greek word for liver, such as hepatology, and hepatitis The liver is also an accessory digestive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obstructive Airway Disease
Obstructive lung disease is a category of respiratory disease characterized by airway obstruction. Many obstructive diseases of the lung result from narrowing (obstruction) of the smaller bronchi and larger bronchioles, often because of excessive contraction of the smooth muscle itself. It is generally characterized by inflamed and easily collapsible airways, obstruction to airflow, problems exhaling, and frequent medical clinic visits and hospitalizations. Types of obstructive lung disease include asthma, bronchiectasis, bronchitis and chronic obstructive pulmonary disease (COPD). Although COPD shares similar characteristics with all other obstructive lung diseases, such as the signs of coughing and wheezing, they are distinct conditions in terms of disease onset, frequency of symptoms, and reversibility of airway obstruction. Cystic fibrosis is also sometimes included in obstructive pulmonary disease. Types Asthma Asthma is an obstructive lung disease where the bronchial tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hurler–Scheie Syndrome
Hurler–Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Hurler–Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler–Scheie syndrome lack the ability to break down GAGs in their lysosome A lysosome () is a membrane-bound organelle that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation cent ...s due a deficiency of the enzyme iduronidase. All forms of mucopolysaccharidosis type I (MPS I) are a spectrum of the same disease. Hurler-Sheie is the subtype of MPS I with intermediate severity. Hurler syndrome is the most severe form, while Scheie syndrome is the leas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular Disorder (medicine), disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tongue
The tongue is a Muscle, muscular organ (anatomy), organ in the mouth of a typical tetrapod. It manipulates food for chewing and swallowing as part of the digestive system, digestive process, and is the primary organ of taste. The tongue's upper surface (dorsum) is covered by taste buds housed in numerous lingual papillae. It is sensitive and kept moist by saliva and is richly supplied with nerves and blood vessels. The tongue also serves as a natural means of cleaning the teeth. A major function of the tongue is to enable speech in humans and animal communication, vocalization in other animals. The human tongue is divided into two parts, an oral cavity, oral part at the front and a pharynx, pharyngeal part at the back. The left and right sides are also separated along most of its length by a vertical section of connective tissue, fibrous tissue (the lingual septum) that results in a groove, the median sulcus, on the tongue's surface. There are two groups of glossal muscles. The f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
