Glycogen storage disease type 6 (GSD6) is a genetic disease in which the liver cannot process sugar properly. The liver is responsible for breaking down a substance called glycogen . Glycogen is the stored form of sugar that is made by breaking down carbohydrates . When the liver cannot break down glycogen properly it causes a buildup that is damaging to the body. Symptoms of the disease usually begin in infancy or childhood and include low blood sugar ( hypoglycemia ), an enlarged liver ( hepatomegaly ), and an increase in the amount of lactic acid in the blood ( lactic acidosis ).

A number sign (#) is used with this entry because glycogen storage disease VI (GSD6) is caused by homozygous or compound heterozygous mutation in the PYGL gene (613741), which encodes liver glycogen phosphorylase, on chromosome 14. Clinical Features The clinical picture in glycogen storage disease VI is one of mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. The prognosis seems to be excellent (Hers, 1959; Hers and van Hoof, 1968). Wallis et al. (1966) determined erythrocyte glycogen concentration and leukocyte phosphorylase activity in 17 members of 4 generations of the family of a boy with biopsy-proved glycogen storage disease type VI. Chang et al. (1998) studied a Mennonite family in which the diagnosis of glycogen storage disease type VI had first been made in a 22-month-old girl in 1962.

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. Clinical description The disease usually occurs in childhood and is characterized by hepatomegaly and growth delay. Hypoglycemic episodes are mild or absent, and hypertransaminasemia and hyperlipidemia are moderate and unconstant. Hepatomegaly usually improves with age and disappears entirely at puberty. Etiology Transmission is autosomal recessive and mutations in the PYGL gene (14q21-q22) have been identified in patients.

During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis).

However, lactic acidosis may occur during fasting. [4] GlycogenPhosphorylase Diagnosis [ edit ] This section is empty.

This article is about the fear of loud sounds. For the aversion to specific sounds, such as eating, coughing, or alarms, see Misophonia . For the fear of making or taking phone calls, see Telephone phobia . Phonophobia Other names Ligyrophobia, sonophobia, acousticophobia [1] Specialty Psychiatry , neurology Phonophobia , also called ligyrophobia or sonophobia , is a fear of or aversion to loud sounds (for example fireworks)—a type of specific phobia . [2] It is a very rare phobia which is often the symptom of hyperacusis . Sonophobia can refer to the hypersensitivity of a patient to sound and can be part of the diagnosis of a migraine . Occasionally it is called acousticophobia . [1] The term phonophobia comes from Greek φωνή - phōnē , "sound" [3] and φόβος - phobos , "fear". [4] Ligyrophobics may be fearful of devices that can suddenly emit loud sounds, such as computer speakers or fire alarms. When operating a device such as a home theater system, computer, television, or CD player, they may wish to have the volume turned down all the way before doing anything that would cause the speakers to emit sound, so that once the command to produce sound is given, the user can raise the volume of the speakers to a comfortable listening level.

A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.

Gastroparesis , or delayed gastric emptying, is a disorder where the food does not move or moves very slowly from the stomach to the small intestine . In gastroparesis, the muscles of the stomach do not work well and digestion takes an abnormally long time. Symptoms of gastroparesis include bloating, nausea, vomiting, weight loss due to poor absorption of nutrients, early fullness while eating meals, heartburn, and abdominal pain. Complications can occur including dehydration, electrolyte abnormalities, blood sugar abnormalities, malnutrition, vitamin deficiencies, stomach ulcers , gastroesophageal reflux , esophagitis , small bowel bacterial overgrowth , and metabolic bone disease. In rare cases, food that is poorly digested can collect in the stomach and form a bezoar, a mass of undigested material that can cause a blockage in the gastrointestinal tract.

When nitric oxide levels are low, the smooth muscle and other organs may not be able to function properly. [18] Other important components of the stomach are the interstitial cells of Cajal (ICC) which act as a pacemaker since they transduce signals from motor neurons to produce an electrical rhythm in the smooth muscle cells. [19] Lower nitric oxide levels also correlate with loss of ICC cells, which can ultimately lead to the loss of function in the smooth muscle in the stomach, as well as in other areas of the gastrointestinal tract. [18] Pathogenesis of symptoms in diabetic gastroparesis include: Loss of gastric neurons containing nitric oxide synthase (NOS) is responsible for defective accommodation reflex, which leads to early satiety and postprandial fullness . [10] Impaired electromechanical activity in the myenteric plexus is responsible for delayed gastric emptying, resulting in nausea and vomiting. [10] Sensory neuropathy in the gastric wall may be responsible for epigastric pain. [10] Abnormal pacemaker activity (tachybradyarrhythmia) may generate a noxious signal transmitted to the CNS to evoke nausea and vomiting. [10] Diagnosis [ edit ] Gastroparesis can be diagnosed with tests such as barium swallow X-rays, manometry , and gastric emptying scans . [20] For the X-ray, the patient drinks a liquid containing barium after fasting which will show up in the X-ray and the physician is able to see if there is still food in the stomach as well.

Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy and typically affects those aged 20 to 60. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats ( arrhythmia ), blood clots, or sudden death. Over time, the heart becomes weaker and heart failure can occur. While the cause of dilated cardiomyopathy is often unknown (idiopathic), some cases are acquired and roughly half are inherited or familial.

Tachycardia-induced cardiomyopathy should be considered in all patients with a dilated cardiomyopathy of uncertain origin and who have tachycardia or atrial fibrillation with a fast ventricular rate. ^ a b c Umana, Ernesto; Solares, C.

Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.

Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).

Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.

Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes difficulty making or understanding speech ( aphasia ). PPA is a specific type of a more general disease called frontotemporal dementia . PPA can be classified into three distinct types which include: Progressive non-fluent aphasia (PNFA) Semantic dementia (SD) Logopenic progressive aphasia (LPA) PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes ( mutations or pathogenic variants) in the GRN gene . In these cases, the disease is inherited in an autosomal dominant manner.

Parts of this article (those related to see PMID 27042904 ) need to be updated . Please update this article to reflect recent events or newly available information. ( March 2018 ) Primary progressive aphasia Regions of the left hemisphere that can give rise to aphasia when damaged. Specialty Neurology Primary progressive aphasia ( PPA ) is a type of neurological syndrome in which language capabilities slowly and progressively become impaired. As with other types of aphasia , the symptoms that accompany PPA depend on what parts of the left hemisphere are significantly damaged. However, unlike most other aphasias, PPA results from continuous deterioration in brain tissue, which leads to early symptoms being far less detrimental than later symptoms.

Antiphospholipid syndrome Other names Hughes syndrome [1] Micrograph showing an advanced thrombotic microangiopathy , as may be seen in APLA syndrome. Kidney biopsy . PAS stain . Specialty Hematology , Rheumatology Antiphospholipid syndrome , or antiphospholipid antibody syndrome ( APS or APLS ), is an autoimmune , hypercoagulable state caused by antiphospholipid antibodies . APS provokes blood clots ( thrombosis ) in both arteries and veins as well as pregnancy-related complications such as miscarriage , stillbirth , preterm delivery , and severe preeclampsia . The diagnostic criteria require one clinical event (i.e. thrombosis or pregnancy complication) and two positive blood test results spaced at least three months apart that detect lupus anticoagulant , anti-apolipoprotein antibodies , or anti-cardiolipin antibodies . [2] Antiphospholipid syndrome can be primary or secondary. Primary antiphospholipid syndrome occurs in the absence of any other related disease.

A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease (HSCR4) is associated with variation in the EDN3 gene (131242) on chromosome 20q13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).

A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-3 (HSCR3) is associated with variation in the GDNF gene (600837) on chromosome 5p13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).

Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.

A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-2 (HSCR2) is conferred by variation in the gene encoding the endothelin-B receptor (EDNRB; 131244) on chromosome 13q22. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).

A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-1 (HSCR1) is associated with variation in the RET gene (164761) on chromosome 10q11. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32.

Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. Epidemiology HSCR has an estimated annual incidence of 1/5,000 births. Short segment HSCR is more frequent in males. Clinical description HSCR generally manifests shortly after birth with symptoms of lower intestinal obstruction such as failure to pass meconium within the first 48 hours of life, abdominal pain, constipation, progressive abdominal distention, vomiting, and occasionally diarrhea. Rarely, it presents later in childhood with symptoms of severe constipation and failure to thrive. HSCR can also be associated with additional anomalies such as sensorineural hearing loss (neurologic Waardenburg-Shah syndrome), limb anomalies (Bardet-Biedl syndrome), intellectual deficit (Mowat-Wilson syndrome), central alveolar hypoventilation (Haddad syndrome), or medullary thyroid carcinoma (multiple endocrine neoplasia syndrome type 2B).

Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.

Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.

Hirschsprung's disease Other names Aganglionic megacolon, congenital megacolon, congenital intestinal aganglionosis [1] Histopathology of Hirschsprung disease showing abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosa Specialty Medical genetics Symptoms Constipation , vomiting , abdominal pain , diarrhea , slow growth [1] Complications Enterocolitis , megacolon , bowel obstruction , intestinal perforation [1] [2] Usual onset First 2 months of life [1] Types Short-segment, long-segment [1] Causes Genetic [1] Risk factors Family history [1] Diagnostic method Based on symptoms, biopsy [3] Differential diagnosis Chronic intestinal pseudo-obstruction , meconium ileus [2] Treatment Surgery [2] Frequency 1 in 5,000 newborns [1] Hirschsprung's disease ( HD or HSCR ) is a birth defect in which nerves are missing from parts of the intestine . [1] [3] The most prominent symptom is constipation . [1] Other symptoms may include vomiting , abdominal pain , diarrhea and slow growth . [1] Symptoms usually become apparent in the first two months of life. [1] Complications may include enterocolitis , megacolon , bowel obstruction and intestinal perforation . [1] [2] The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome . [1] [2] About half of isolated cases are linked to a specific genetic mutation , and about 20% occur within families. [1] Some of these occur in an autosomal dominant manner. [1] The cause of the remaining cases is unclear. [1] If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected. [2] The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected. [1] Rarely, the small bowel may be affected, as well. [2] Diagnosis is based on symptoms and confirmed by biopsy . [3] Treatment is generally by surgery to remove the affected section of bowel. [2] The surgical procedure most often carried out is known as a "pull through". [3] Occasionally, an intestinal transplantation may be recommended. [2] Hirschsprung's disease occurs in about one in 5,000 of newborns. [1] Males are more often affected than females. [1] The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch [4] and is named after Danish physician Harald Hirschsprung following his description in 1888. [5] [6] Contents 1 Signs and symptoms 1.1 Associated syndromes 2 Cause 2.1 Genetics 2.2 RET proto-oncogene 2.3 Other genes 3 Pathophysiology 4 Diagnosis 5 Treatment 5.1 Colostomy 5.2 Other procedures 6 Epidemiology 7 History 8 See also 9 References 10 External links Signs and symptoms [ edit ] Typically, Hirschsprung disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence of megacolon , or because the baby fails to pass the first stool ( meconium ) [7] within 48 hours of delivery. Normally, 90% of babies pass their first meconium within 24 hours, and 99% within 48 hours. [8] Other symptoms include green or brown vomit, explosive stools after a doctor inserts a finger into the rectum, swelling of the abdomen, excessive gas, and bloody diarrhea. [ citation needed ] Some cases are diagnosed later, into childhood, but usually before age 10. [7] The child may experience fecal retention, constipation, or abdominal distention. [7] Associated syndromes [ edit ] Hirschsprung's disease can also present as part of multi system disorders, such as: [9] Bardet–Biedl syndrome Cartilage–hair hypoplasia [10] Congenital central hypoventilation syndrome [11] MEN2 [12] Mowat–Wilson syndrome [13] Smith–Lemli–Opitz syndrome [14] Trisomy 21 ( Down syndrome ) [15] Some forms of Waardenburg syndrome Cause [ edit ] The disorder may occur by itself or in association with other genetic disorders such as Down syndrome . [2] About half of isolated cases are linked to a specific genetic mutation and about 20% occur within families. [1] Some of these occur in an autosomal dominant manner. [1] The cause of the remaining cases is unclear. [1] If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected. [2] Genetics [ edit ] Type OMIM Gene Locus HSCR1 142623 RET 10q11.2 HSCR2 600155 EDNRB 13q22 HSCR3 600837 GDNF 5p13.1-p12 HSCR4 131242 EDN3 20q13.2-q13.3 HSCR5 600156 ? 21q22 HSCR6 606874 ? 3p21 HSCR7 606875 ? 19q12 HSCR8 608462 ? 16q23 HSCR9 611644 ? 4q31-32 — 602229 SOX10 22q13 — 600423 ECE1 1p36.1 — 602018 NRTN 19p13.3 — 602595 GEMIN2 ( Gem-associated protein 2 ) 14q13-q21 — 191315 NTRK1 1q23.1 — 605802 ZEB2 2q22.3 Several genes and specific regions on chromosomes ( loci ) have been shown or suggested to be associated with Hirschsprung's disease: The RET proto-oncogene accounts for the highest proportion of both familial and sporadic cases, with a wide range of mutations scattered along its entire coding region. [16] A proto-oncogene can cause cancer if it is mutated or overexpressed. [17] RET proto-oncogene [ edit ] RET is a gene that codes for proteins that assist cells of the neural crest in their movement through the digestive tract during the development of the embryo. Those neural crest cells eventually form bundles of nerve cells called ganglions.

Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.

Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel . Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth.

Chondrosarcoma Histopathologic image of chondrosarcoma of the chest wall. Surgical resection of recurrent mass. H & E stain. Specialty Oncology Chondrosarcoma is a bone sarcoma , a primary cancer composed of cells derived from transformed cells that produce cartilage . [1] A chondrosarcoma is a member of a category of tumors of bone and soft tissue known as sarcomas . About 30% of bone sarcomas are chondrosarcomas. [2] It is resistant to chemotherapy and radiotherapy . Unlike other primary bone sarcomas that mainly affect children and adolescents, a chondrosarcoma can present at any age. It more often affects the axial skeleton than the appendicular skeleton . [3] Contents 1 Types 2 Symptoms and signs 3 Causes 4 Diagnosis 5 Treatment 6 Prognosis 7 References 8 External links Types [ edit ] Table 1: Types of Chondrosarcoma Subtype Percentage of cases % Conventional Primary Central ~75% [4] Secondary Peripheral ~10% [4] Periosteal (aka juxtacortical) [5] [6] <1% [4] Rare Dedifferentiated ~10% [4] Mesenchymal ~2% [4] Clear-cell ~2% [6] Symptoms and signs [ edit ] Back or thigh pain Sciatica Bladder Symptoms Unilateral edema Causes [ edit ] The cause is unknown.

A number sign (#) is used with this entry because of evidence that mutation, either constitutional or somatic, in 1 of the genes for hereditary multiple exostoses, EXT1 (608177) or EXT2 (608210), may be responsible for chondrosarcoma. Inheritance Schajowicz and Bessone (1967) described 3 brothers who, respectively, developed chondrosarcoma of the pelvic bone at 18 years, of the fibula and femur at 16 years, and of the femur at 17 years. Two brothers and a sister were living and well. Karyotypes were normal. See osteogenic sarcoma (259500). Molecular Genetics Hecht et al. (1995) studied a large multigenerational family with multiple exostoses and, in 1 member, a chondrosarcoma. The family demonstrated linkage of the disease to chromosome 11 markers.

Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.

For other diseases named after Paget, see Paget's disease (disambiguation) . Paget's disease of bone Other names osteitis deformans, Paget's disease "This 92 year-old male patient presented for assessment of sudden inability to move half his body . An incidental finding was marked thickening of the calvarium . The diploic space is widened and there are ill-defined sclerotic and lucent areas throughout. The cortex is thickened and irregular. The findings probably correspond to the 'cotton wool spots' seen on plain films in the later stages of Paget’s disease." Pronunciation "Paget" / ˈ p æ dʒ ɪ t / Specialty Rheumatology Paget's disease of bone (commonly known as Paget's disease or, historically, osteitis deformans ) is a condition involving cellular remodeling and deformity of one or more bones.

High Intensity Focused Ultrasound [ edit ] High Intensity Focused Ultrasound (HIFU) is a newer technique for the treatment of malignant and benign tumors of the breast and has shown promising results in the form of complete radiological removal of tumors. [27] An ultrasound beam is focused on a target in the breast and leads to tissue death and protein degradation by raising the temperature in that area. [27] Currently, the use of radiation is recommended in some cases, but HIFU in particular is not part of treatment guidelines. [28] Further research into the usefulness of HIFU, specifically in fibroadenoma, is required before more widespread use of the technique in fibroadenoma. [27] Epidemiology [ edit ] Of all breast tissue samples taken, fibroadenomas comprise about 50%, and this rate rises to 75% for tissue sample in women under the age of 20 years. [29] Fibroadenomas are more frequent among women in higher socioeconomic classes and darker-skinned people. [29] Body mass index and the number of full-term pregnancies were found to have a negative correlation with the risk of fibroadenomas. [29] There are no known genetic factors that influence the rate of fibroadenomas. [29] The rate of occurrence of fibroadenomas in women have been reported in literature to range from 7% to 13%. [29] References [ edit ] ^ 22-251c.Fibroadenomas at Merck Manual of Diagnosis and Therapy Home Edition ^ a b Tavassoli, F.A.; Devilee, P., eds. (2003). ... This page was last edited on 4 November 2019 ^ Pathology Outlines Website. [1] Accessed 12 February 2009. ^ "Fibroadenoma of the breast" .

Gastric dumping syndrome Other names Gastric dumping syndrome rapid gastric emptying Diagram of the stomach, showing the different regions Specialty Gastroenterology , general surgery Dumping syndrome occurs when food, especially sugar, moves too quickly from the stomach to the duodenum —the first part of the small intestine—in the upper gastrointestinal (GI) tract . This condition is also called rapid gastric emptying. [1] It is mostly associated with conditions following gastric or esophageal surgery, though it can also arise secondary to diabetes or to the use of certain medications; it is caused by an absent or insufficiently functioning pyloric sphincter , the valve between the stomach and the duodenum. [2] Dumping syndrome has two forms, based on when symptoms occur. Early dumping syndrome occurs 10 to 30 minutes after a meal. It results from rapid movement of fluid into the intestine following a sudden addition of a large amount of food from the stomach. [1] The small intestine expands rapidly due to the presence of hypertonic / hyperosmolar contents from the stomach, especially sweet foods. This causes symptoms due to the shift of fluid into the intestinal lumen , with plasma volume contraction and acute intestinal distention. [3] Osmotic diarrhea , distension of the small bowel leading to crampy abdominal pain, and reduced blood volume can result. Late dumping syndrome occurs 2 to 3 hours after a meal. It results from excessive movement of sugar into the intestine, which raises the body's blood glucose level and causes the pancreas to increase its release of the hormone insulin .