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nord_14_2 | Causes of Acquired Aplastic Anemia | Most cases of acquired aplastic anemia occur unrelated to any identifiable causes, or for unknown reasons (idiopathic). Researchers believe that most are due to the immune system mistakenly targeting the bone marrow (autoimmunity). Autoimmune disorders are caused when the body’s natural defenses against “foreign” or in... | Causes of Acquired Aplastic Anemia. Most cases of acquired aplastic anemia occur unrelated to any identifiable causes, or for unknown reasons (idiopathic). Researchers believe that most are due to the immune system mistakenly targeting the bone marrow (autoimmunity). Autoimmune disorders are caused when the body’s natu... | 14 | Acquired Aplastic Anemia |
nord_14_3 | Affects of Acquired Aplastic Anemia | Acquired aplastic anemia affects males and females in about equal numbers. Most cases affect older children, teenagers or young adults. The incidence of aplastic anemia in Europe and Israel is two new cases among 1 million people per year. The incidence rate is two or three times greater in Asia. The exact incidence ra... | Affects of Acquired Aplastic Anemia. Acquired aplastic anemia affects males and females in about equal numbers. Most cases affect older children, teenagers or young adults. The incidence of aplastic anemia in Europe and Israel is two new cases among 1 million people per year. The incidence rate is two or three times gr... | 14 | Acquired Aplastic Anemia |
nord_14_4 | Related disorders of Acquired Aplastic Anemia | Symptoms of the following disorders can be similar to those of acquired aplastic anemia. Comparisons may be useful for a differential diagnosis:Myelodysplastic syndromes (myelodysplasias, MDS) are a rare group of blood disorders that occur as a result of improper development of blood cells within the bone marrow. The t... | Related disorders of Acquired Aplastic Anemia. Symptoms of the following disorders can be similar to those of acquired aplastic anemia. Comparisons may be useful for a differential diagnosis:Myelodysplastic syndromes (myelodysplasias, MDS) are a rare group of blood disorders that occur as a result of improper developme... | 14 | Acquired Aplastic Anemia |
nord_14_5 | Diagnosis of Acquired Aplastic Anemia | A diagnosis of acquired aplastic anemia may be suspected when an otherwise healthy individual has low levels of all three blood cell types (pancytopenia). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests, including a bone marrow biopsy. Durin... | Diagnosis of Acquired Aplastic Anemia. A diagnosis of acquired aplastic anemia may be suspected when an otherwise healthy individual has low levels of all three blood cell types (pancytopenia). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests... | 14 | Acquired Aplastic Anemia |
nord_14_6 | Therapies of Acquired Aplastic Anemia | TreatmentTreatment of acquired aplastic anemia varies, depending upon the individual’s age, general health, and the severity of aplastic anemia. Treatment aims to correct the bone marrow failure, as well as to treat the patient’s immediate signs and symptoms. The two main forms of specific treatment are bone marrow tra... | Therapies of Acquired Aplastic Anemia. TreatmentTreatment of acquired aplastic anemia varies, depending upon the individual’s age, general health, and the severity of aplastic anemia. Treatment aims to correct the bone marrow failure, as well as to treat the patient’s immediate signs and symptoms. The two main forms of... | 14 | Acquired Aplastic Anemia |
nord_15_0 | Overview of Acquired Hemophilia | SummaryAcquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases related to clotting/coagulation. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy cells or tissue. In AH, the body produces an... | Overview of Acquired Hemophilia. SummaryAcquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases related to clotting/coagulation. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy cells or ti... | 15 | Acquired Hemophilia |
nord_15_1 | Symptoms of Acquired Hemophilia | The symptoms of AH develop because the blood cannot clot properly. Clotting is the process by which blood clumps together to plug the site of a wound. Clotting factors, such as factor VIII, are specialized proteins that are essential for the blood to clot properly.Although about 1/3 of patients do not require therapy t... | Symptoms of Acquired Hemophilia. The symptoms of AH develop because the blood cannot clot properly. Clotting is the process by which blood clumps together to plug the site of a wound. Clotting factors, such as factor VIII, are specialized proteins that are essential for the blood to clot properly.Although about 1/3 of ... | 15 | Acquired Hemophilia |
nord_15_2 | Causes of Acquired Hemophilia | AH is an autoimmune disorder. It occurs when the immune system produces antibodies that mistakenly attack healthy tissue, specifically specialized proteins known as clotting factors, most often clotting factor VIII.The immune system normally responds to a foreign substance by producing specialized proteins called antib... | Causes of Acquired Hemophilia. AH is an autoimmune disorder. It occurs when the immune system produces antibodies that mistakenly attack healthy tissue, specifically specialized proteins known as clotting factors, most often clotting factor VIII.The immune system normally responds to a foreign substance by producing sp... | 15 | Acquired Hemophilia |
nord_15_3 | Affects of Acquired Hemophilia | AH develops in individuals with no previous history of bleeding disorder with approximately equal numbers of males and females affected. In the United States, the disorder is estimated to affect approximately .2-1 individuals per 1,000,000/year in the general population. In the United Kingdom, the disorder is estimated... | Affects of Acquired Hemophilia. AH develops in individuals with no previous history of bleeding disorder with approximately equal numbers of males and females affected. In the United States, the disorder is estimated to affect approximately .2-1 individuals per 1,000,000/year in the general population. In the United Ki... | 15 | Acquired Hemophilia |
nord_15_4 | Related disorders of Acquired Hemophilia | Symptoms of the following disorders can be similar to those of AH. Comparisons may be useful for a differential diagnosis. Hemophilia is a general term for a group of rare bleeding disorders. Most forms of hemophilia are inherited blood clotting (coagulation) disorder caused by inactive or deficient blood proteins. The... | Related disorders of Acquired Hemophilia. Symptoms of the following disorders can be similar to those of AH. Comparisons may be useful for a differential diagnosis. Hemophilia is a general term for a group of rare bleeding disorders. Most forms of hemophilia are inherited blood clotting (coagulation) disorder caused by... | 15 | Acquired Hemophilia |
nord_15_5 | Diagnosis of Acquired Hemophilia | AH should be suspected by the clinical picture and confirmed by an abnormal coagulation test. A diagnosis should be considered in patients with a recent onset of abnormal bleeding and an isolated prolongation of the activated partial thromboplastin time (aPTT), especially the elderly and peri- and post-partum women.Cli... | Diagnosis of Acquired Hemophilia. AH should be suspected by the clinical picture and confirmed by an abnormal coagulation test. A diagnosis should be considered in patients with a recent onset of abnormal bleeding and an isolated prolongation of the activated partial thromboplastin time (aPTT), especially the elderly a... | 15 | Acquired Hemophilia |
nord_15_6 | Therapies of Acquired Hemophilia | Treatment
Because AH is a rare disorder, most therapies used to treat affected individuals are based upon anecdotal reports or small cases series. There are few studies directly comparing the efficacy of specific treatments. Consequently, treatment is highly individualized.The specific therapeutic procedures and interv... | Therapies of Acquired Hemophilia. Treatment
Because AH is a rare disorder, most therapies used to treat affected individuals are based upon anecdotal reports or small cases series. There are few studies directly comparing the efficacy of specific treatments. Consequently, treatment is highly individualized.The specific... | 15 | Acquired Hemophilia |
nord_16_0 | Overview of Acquired Lipodystrophy | SummaryAcquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired lipodystrophies do not have a direct genetic cause, but rather many different factors may be involved. Acquired lipodystrophies can be caused by medications, autoimm... | Overview of Acquired Lipodystrophy. SummaryAcquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired lipodystrophies do not have a direct genetic cause, but rather many different factors may be involved. Acquired lipodystrophies c... | 16 | Acquired Lipodystrophy |
nord_16_1 | Symptoms of Acquired Lipodystrophy | Acquired lipodystrophy encompasses several subtypes. The specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of acquired lipodystrophy and the presence and extent of associated symptoms. The specific symptoms and severity can also vary among individuals with the same sub... | Symptoms of Acquired Lipodystrophy. Acquired lipodystrophy encompasses several subtypes. The specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of acquired lipodystrophy and the presence and extent of associated symptoms. The specific symptoms and severity can also vary... | 16 | Acquired Lipodystrophy |
nord_16_2 | Causes of Acquired Lipodystrophy | Acquired lipodystrophies can be caused by medications, autoimmune reactions or other unknown mechanisms. Acquired lipodystrophies do not have a direct genetic basis. Some researchers have speculated that individuals may have a genetic predisposition to developing certain forms of acquired lipodystrophy, however, this r... | Causes of Acquired Lipodystrophy. Acquired lipodystrophies can be caused by medications, autoimmune reactions or other unknown mechanisms. Acquired lipodystrophies do not have a direct genetic basis. Some researchers have speculated that individuals may have a genetic predisposition to developing certain forms of acqui... | 16 | Acquired Lipodystrophy |
nord_16_3 | Affects of Acquired Lipodystrophy | AGL and APL generally affect women more than men, although this may be due in part to ascertainment bias because women tend to be more severely affected and more easily recognized. APL has been reported in approximately 250 individuals with a male to female ratio of 1:4. It has been reported in individuals of various d... | Affects of Acquired Lipodystrophy. AGL and APL generally affect women more than men, although this may be due in part to ascertainment bias because women tend to be more severely affected and more easily recognized. APL has been reported in approximately 250 individuals with a male to female ratio of 1:4. It has been r... | 16 | Acquired Lipodystrophy |
nord_16_4 | Related disorders of Acquired Lipodystrophy | Symptoms of the following disorders can be similar to those of acquired lipodystrophy. Comparisons may be useful for a differential diagnosis.Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) in various areas of the body. Individual... | Related disorders of Acquired Lipodystrophy. Symptoms of the following disorders can be similar to those of acquired lipodystrophy. Comparisons may be useful for a differential diagnosis.Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective, progressive loss of body fat (adipose tis... | 16 | Acquired Lipodystrophy |
nord_16_5 | Diagnosis of Acquired Lipodystrophy | A diagnosis of acquired lipodystrophies is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. AGL may be suspected in individuals who have a generalized lack of subcutaneous fat and overall muscular appearance during child... | Diagnosis of Acquired Lipodystrophy. A diagnosis of acquired lipodystrophies is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. AGL may be suspected in individuals who have a generalized lack of subcutaneous fat and ove... | 16 | Acquired Lipodystrophy |
nord_16_6 | Therapies of Acquired Lipodystrophy | Treatment
The treatment of acquired lipodystrophies is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, plastic surgeons, cardiologists, endocrinologists, nutritionists, and other healthcare professionals m... | Therapies of Acquired Lipodystrophy. Treatment
The treatment of acquired lipodystrophies is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, plastic surgeons, cardiologists, endocrinologists, nutritionists,... | 16 | Acquired Lipodystrophy |
nord_17_0 | Overview of Acquired Neuromyotonia | Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating (hyperhidrosis), an... | Overview of Acquired Neuromyotonia. Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, in... | 17 | Acquired Neuromyotonia |
nord_17_1 | Symptoms of Acquired Neuromyotonia | Acquired neuromyotonia is characterized by involuntary continuous muscle fiber activity (fasciculations, doublet and triplet discharges on electromyography) that cause stiffness and delayed relaxation in the affected muscles. Muscle twitching with a rippling appearance (myokymia) may occur along with these symptoms. Af... | Symptoms of Acquired Neuromyotonia. Acquired neuromyotonia is characterized by involuntary continuous muscle fiber activity (fasciculations, doublet and triplet discharges on electromyography) that cause stiffness and delayed relaxation in the affected muscles. Muscle twitching with a rippling appearance (myokymia) may... | 17 | Acquired Neuromyotonia |
nord_17_2 | Causes of Acquired Neuromyotonia | Acquired neuromyotonia is an autoimmune disease in which the immune system malfunctions so that it damages parts of one’s own body. Approximately 40% of affected individuals have antibodies to voltage-gated potassium channels (VGKC’s) that affect the points at which the signals from the nerve fiber meet the muscle cell... | Causes of Acquired Neuromyotonia. Acquired neuromyotonia is an autoimmune disease in which the immune system malfunctions so that it damages parts of one’s own body. Approximately 40% of affected individuals have antibodies to voltage-gated potassium channels (VGKC’s) that affect the points at which the signals from th... | 17 | Acquired Neuromyotonia |
nord_17_3 | Affects of Acquired Neuromyotonia | Aquired neuromyotonia is a rare disorder affecting males and females but is slightly more common among men. Disease onset is usually between the ages of 15 and 60 years but has also been reported in childhood. | Affects of Acquired Neuromyotonia. Aquired neuromyotonia is a rare disorder affecting males and females but is slightly more common among men. Disease onset is usually between the ages of 15 and 60 years but has also been reported in childhood. | 17 | Acquired Neuromyotonia |
nord_17_4 | Related disorders of Acquired Neuromyotonia | Symptoms of the following disorders can be similar to those of acquired neuromyotonia. Comparisons may be useful for a differential diagnosis:Amyotrophic lateral sclerosis (ALS) is one of a group of disorders known as motor neuron diseases. It is characterized by the progressive degeneration and eventual death of nerve... | Related disorders of Acquired Neuromyotonia. Symptoms of the following disorders can be similar to those of acquired neuromyotonia. Comparisons may be useful for a differential diagnosis:Amyotrophic lateral sclerosis (ALS) is one of a group of disorders known as motor neuron diseases. It is characterized by the progres... | 17 | Acquired Neuromyotonia |
nord_17_5 | Diagnosis of Acquired Neuromyotonia | The diagnosis of acquired neuromyotonia is based on the presence of continuous muscle contractions (myokymia), especially in the face and hands, rhythmic tics or twitches (fasciculations), and muscle cramps. The diagnosis is confirmed by studies of the electrical signs of muscle activity (electromyography). Serum inves... | Diagnosis of Acquired Neuromyotonia. The diagnosis of acquired neuromyotonia is based on the presence of continuous muscle contractions (myokymia), especially in the face and hands, rhythmic tics or twitches (fasciculations), and muscle cramps. The diagnosis is confirmed by studies of the electrical signs of muscle act... | 17 | Acquired Neuromyotonia |
nord_17_6 | Therapies of Acquired Neuromyotonia | TreatmentAcquired neuromyotonia may be treated with anticonvulsant drugs such as phenytoin or carbamazepine, which may stop the abnormal impulses and prevent the symptoms from reoccurring. Plasma exchange (plasmapheresis) and intravenous immune globulin have been effective in a few cases but no long-term, controlled, c... | Therapies of Acquired Neuromyotonia. TreatmentAcquired neuromyotonia may be treated with anticonvulsant drugs such as phenytoin or carbamazepine, which may stop the abnormal impulses and prevent the symptoms from reoccurring. Plasma exchange (plasmapheresis) and intravenous immune globulin have been effective in a few ... | 17 | Acquired Neuromyotonia |
nord_18_0 | Overview of Acrocallosal Syndrome, Schinzel Type | Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis)... | Overview of Acrocallosal Syndrome, Schinzel Type. Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by u... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_1 | Symptoms of Acrocallosal Syndrome, Schinzel Type | In individuals with acrocallosal syndrome, Schinzel type, the range and severity of associated findings may be extremely variable. However, in all reported cases to date, the disorder has been characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemisph... | Symptoms of Acrocallosal Syndrome, Schinzel Type. In individuals with acrocallosal syndrome, Schinzel type, the range and severity of associated findings may be extremely variable. However, in all reported cases to date, the disorder has been characterized by underdevelopment (hypoplasia) or absence (agenesis) of the ... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_2 | Causes of Acrocallosal Syndrome, Schinzel Type | According to many investigators, acrocallosal syndrome, Schinzel type may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does... | Causes of Acrocallosal Syndrome, Schinzel Type. According to many investigators, acrocallosal syndrome, Schinzel type may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mo... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_3 | Affects of Acrocallosal Syndrome, Schinzel Type | Acrocallosal syndrome, Schinzel type appears to affect males and females in relatively equal numbers. The disorder was originally reported in 1979 (A. Schinzel). Over 25 cases have been recorded in the medical literature. | Affects of Acrocallosal Syndrome, Schinzel Type. Acrocallosal syndrome, Schinzel type appears to affect males and females in relatively equal numbers. The disorder was originally reported in 1979 (A. Schinzel). Over 25 cases have been recorded in the medical literature. | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_4 | Related disorders of Acrocallosal Syndrome, Schinzel Type | Symptoms of the following disorders may be similar to those of acrocallosal syndrome, Schinzel type. Comparisons may be useful for a differential diagnosis:Greig cephalopolysyndactyly syndrome is a rare genetic disorder characterized by distinctive abnormalities of the skull and facial (craniofacial) region, the hands... | Related disorders of Acrocallosal Syndrome, Schinzel Type. Symptoms of the following disorders may be similar to those of acrocallosal syndrome, Schinzel type. Comparisons may be useful for a differential diagnosis:Greig cephalopolysyndactyly syndrome is a rare genetic disorder characterized by distinctive abnormaliti... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_5 | Diagnosis of Acrocallosal Syndrome, Schinzel Type | In some instances, such as in families with members previously diagnosed with the disorder, acrocallosal syndrome, Schinzel type may be suspected before birth (prenatally) based upon certain specialized tests, such as ultrasound or fetoscopy. Fetal ultrasonography is a noninvasive diagnostic procedure in which reflecte... | Diagnosis of Acrocallosal Syndrome, Schinzel Type. In some instances, such as in families with members previously diagnosed with the disorder, acrocallosal syndrome, Schinzel type may be suspected before birth (prenatally) based upon certain specialized tests, such as ultrasound or fetoscopy. Fetal ultrasonography is a... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_18_6 | Therapies of Acrocallosal Syndrome, Schinzel Type | TreatmentThe treatment of acrocallosal syndrome, Schinzel type is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat neurological disorders (... | Therapies of Acrocallosal Syndrome, Schinzel Type. TreatmentThe treatment of acrocallosal syndrome, Schinzel type is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physici... | 18 | Acrocallosal Syndrome, Schinzel Type |
nord_19_0 | Overview of Acrodermatitis Enteropathica | Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of three forms: an inborn (congenital) form and two acquired forms. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of z... | Overview of Acrodermatitis Enteropathica. Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of three forms: an inborn (congenital) form and two acquired forms. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to abs... | 19 | Acrodermatitis Enteropathica |
nord_19_1 | Symptoms of Acrodermatitis Enteropathica | Acrodermatitis enteropathica is characterized by chronic diarrhea which may be mild or severe, and the presence of fatty substances in the feces (steatorrhea). In the congenital form symptoms start gradually, frequently at the time of weaning of an infant. The skin around body openings such as the mouth, anus, and eyes... | Symptoms of Acrodermatitis Enteropathica. Acrodermatitis enteropathica is characterized by chronic diarrhea which may be mild or severe, and the presence of fatty substances in the feces (steatorrhea). In the congenital form symptoms start gradually, frequently at the time of weaning of an infant. The skin around body ... | 19 | Acrodermatitis Enteropathica |
nord_19_2 | Causes of Acrodermatitis Enteropathica | The congenital form of acrodermatitis enteropathica is transmitted as an autosomal recessive genetic disorder. It appears to be the result of mutations in the SLC39A4 gene.Genetic diseases are determined by a combination of genes for a particular trait that are on the chromosomes received from the father and the mother... | Causes of Acrodermatitis Enteropathica. The congenital form of acrodermatitis enteropathica is transmitted as an autosomal recessive genetic disorder. It appears to be the result of mutations in the SLC39A4 gene.Genetic diseases are determined by a combination of genes for a particular trait that are on the chromosomes... | 19 | Acrodermatitis Enteropathica |
nord_19_3 | Affects of Acrodermatitis Enteropathica | The congenital form of arodermatitis enteropathica is a rare disorder beginning during infancy. The incidence is about 1 in 500,000 births and the condition affects males and females in equal numbers. Healthy breast-fed infants of female patients with the disorder can also become affected. The acquired form of AE is ra... | Affects of Acrodermatitis Enteropathica. The congenital form of arodermatitis enteropathica is a rare disorder beginning during infancy. The incidence is about 1 in 500,000 births and the condition affects males and females in equal numbers. Healthy breast-fed infants of female patients with the disorder can also becom... | 19 | Acrodermatitis Enteropathica |
nord_19_4 | Related disorders of Acrodermatitis Enteropathica | Symptoms of the following disorder can be similar to those of acrodermatitis enteropathica. Comparisons may be useful for a differential diagnosis:Celiac sprue (gluten enteropathy) is a chronic, hereditary, intestinal malabsorption disorder caused by intolerance to dietary gluten. The illness is characterized by a flat... | Related disorders of Acrodermatitis Enteropathica. Symptoms of the following disorder can be similar to those of acrodermatitis enteropathica. Comparisons may be useful for a differential diagnosis:Celiac sprue (gluten enteropathy) is a chronic, hereditary, intestinal malabsorption disorder caused by intolerance to die... | 19 | Acrodermatitis Enteropathica |
nord_19_5 | Diagnosis of Acrodermatitis Enteropathica | Diagnosis of Acrodermatitis Enteropathica. | 19 | Acrodermatitis Enteropathica | |
nord_19_6 | Therapies of Acrodermatitis Enteropathica | Acrodermatitis enteropathica is treated with zinc supplements in the form of zinc sulfate. These supplements should be given as soon as diagnosis of the disorder is made and they have to be continued for life. The drug Diodoquin (iodoquinol) is another treatment that usually clears up symptoms within a week. If the dis... | Therapies of Acrodermatitis Enteropathica. Acrodermatitis enteropathica is treated with zinc supplements in the form of zinc sulfate. These supplements should be given as soon as diagnosis of the disorder is made and they have to be continued for life. The drug Diodoquin (iodoquinol) is another treatment that usually c... | 19 | Acrodermatitis Enteropathica |
nord_20_0 | Overview of Acrodysostosis | Acrodysostosis is a rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused, in part, by underdeveloped (hypoplastic) of certain facial bones, particularly those in the middle portion of the face. A characteristic symptom is abnormally small ha... | Overview of Acrodysostosis. Acrodysostosis is a rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused, in part, by underdeveloped (hypoplastic) of certain facial bones, particularly those in the middle portion of the face. A characteristic sy... | 20 | Acrodysostosis |
nord_20_1 | Symptoms of Acrodysostosis | Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the di... | Symptoms of Acrodysostosis. Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of ot... | 20 | Acrodysostosis |
nord_20_2 | Causes of Acrodysostosis | Acrodysostosis is caused by a mutation in either the PRKAR1A gene or the PDE4D gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the ... | Causes of Acrodysostosis. Acrodysostosis is caused by a mutation in either the PRKAR1A gene or the PDE4D gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending ... | 20 | Acrodysostosis |
nord_20_3 | Affects of Acrodysostosis | Acrodysostosis affects males and females in equal numbers. The disorder is present at birth (congenital) but may not be apparent until years after birth. The exact incidence and prevalence of the disorder is unknown. Because many cases can go misdiagnosed or undiagnosed, determining the true frequency of acrodysostosis... | Affects of Acrodysostosis. Acrodysostosis affects males and females in equal numbers. The disorder is present at birth (congenital) but may not be apparent until years after birth. The exact incidence and prevalence of the disorder is unknown. Because many cases can go misdiagnosed or undiagnosed, determining the true ... | 20 | Acrodysostosis |
nord_20_4 | Related disorders of Acrodysostosis | Symptoms of the following disorders can be similar to those of acrodysostosis. Comparisons may be useful for a differential diagnosis.Albright hereditary osteodystrophy (AHO) is a rare disorder characterized by short stature, an unusually round face, abnormally short fingers (brachydactyly), and/or the development of b... | Related disorders of Acrodysostosis. Symptoms of the following disorders can be similar to those of acrodysostosis. Comparisons may be useful for a differential diagnosis.Albright hereditary osteodystrophy (AHO) is a rare disorder characterized by short stature, an unusually round face, abnormally short fingers (brachy... | 20 | Acrodysostosis |
nord_20_5 | Diagnosis of Acrodysostosis | A diagnosis of acrodysostosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including X-rays.Clinical Testing and WorkupPrenatal fetal ultrasonography, an exam in which reflected sound waves create an image of the d... | Diagnosis of Acrodysostosis. A diagnosis of acrodysostosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including X-rays.Clinical Testing and WorkupPrenatal fetal ultrasonography, an exam in which reflected sound w... | 20 | Acrodysostosis |
nord_20_6 | Therapies of Acrodysostosis | TreatmentThe treatment of acrodysostosis is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), specialists who diagnose and treat horm... | Therapies of Acrodysostosis. TreatmentThe treatment of acrodysostosis is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), specialist... | 20 | Acrodysostosis |
nord_21_0 | Overview of Acromegaly | Acromegaly is a rare, slowly progressive, acquired disorder that affects adults. It occurs when the pituitary gland produces too much growth hormone (GH). The pituitary gland is a small gland located near the base of the skull that stores several hormones and releases them into the bloodstream as needed by the body. Th... | Overview of Acromegaly. Acromegaly is a rare, slowly progressive, acquired disorder that affects adults. It occurs when the pituitary gland produces too much growth hormone (GH). The pituitary gland is a small gland located near the base of the skull that stores several hormones and releases them into the bloodstream a... | 21 | Acromegaly |
nord_21_1 | Symptoms of Acromegaly | The symptoms of acromegaly generally occur slowly and become more noticeable as affected individuals age. The specific symptoms that develop may vary greatly from one person to another. Acromegaly can potentially cause a wide variety of symptoms and physical findings.Facial features gradually become coarse because of t... | Symptoms of Acromegaly. The symptoms of acromegaly generally occur slowly and become more noticeable as affected individuals age. The specific symptoms that develop may vary greatly from one person to another. Acromegaly can potentially cause a wide variety of symptoms and physical findings.Facial features gradually be... | 21 | Acromegaly |
nord_21_2 | Causes of Acromegaly | Acromegaly is a rare disorder that is caused by excess levels of growth hormone (GH) in the body. In most patients, excess levels of GH are causes by a benign (noncancerous) tumor in the pituitary gland (pituitary adenoma). Most adenomas form from excessive growth of a pituitary cell called a somatotrope cell (the pitu... | Causes of Acromegaly. Acromegaly is a rare disorder that is caused by excess levels of growth hormone (GH) in the body. In most patients, excess levels of GH are causes by a benign (noncancerous) tumor in the pituitary gland (pituitary adenoma). Most adenomas form from excessive growth of a pituitary cell called a soma... | 21 | Acromegaly |
nord_21_3 | Affects of Acromegaly | Acromegaly is a rare disorder that affects males and females in equal numbers. This disorder occurs in approximately 50 to 70 people per million. Researchers estimate that three to eleven people out of every million develop the disorder each year. However, because the symptoms of acromegaly may develop slowly, the diso... | Affects of Acromegaly. Acromegaly is a rare disorder that affects males and females in equal numbers. This disorder occurs in approximately 50 to 70 people per million. Researchers estimate that three to eleven people out of every million develop the disorder each year. However, because the symptoms of acromegaly may d... | 21 | Acromegaly |
nord_21_4 | Related disorders of Acromegaly | Symptoms of the following disorders can be similar to those of acromegaly. Comparisons may be useful for a differential diagnosis:Gigantism is an abnormal condition characterized by excessive height and size. This disorder typically occurs before puberty as a result of the over secretion of growth hormone by the pituit... | Related disorders of Acromegaly. Symptoms of the following disorders can be similar to those of acromegaly. Comparisons may be useful for a differential diagnosis:Gigantism is an abnormal condition characterized by excessive height and size. This disorder typically occurs before puberty as a result of the over secretio... | 21 | Acromegaly |
nord_21_5 | Diagnosis of Acromegaly | A diagnosis of acromegaly is sometimes difficult to make because the development of symptoms occurs slowly over several years. A diagnosis is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic findings and specialized tests such as blood tests, a glucose toleran... | Diagnosis of Acromegaly. A diagnosis of acromegaly is sometimes difficult to make because the development of symptoms occurs slowly over several years. A diagnosis is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic findings and specialized tests such as blood... | 21 | Acromegaly |
nord_21_6 | Therapies of Acromegaly | TreatmentThe treatment of acromegaly is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. The goals of treatment of acromegaly are to return growth hormone levels to normal, decrease the size of a pituitary adenoma (if pre... | Therapies of Acromegaly. TreatmentThe treatment of acromegaly is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. The goals of treatment of acromegaly are to return growth hormone levels to normal, decrease the size of a ... | 21 | Acromegaly |
nord_22_0 | Overview of Acromesomelic Dysplasia | Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the... | Overview of Acromesomelic Dysplasia. Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the fo... | 22 | Acromesomelic Dysplasia |
nord_22_1 | Symptoms of Acromesomelic Dysplasia | Acromesomelic dysplasia (AMD) is characterized by inhibition of growth of certain long bones (i.e. bones of the forearms and lower legs). As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typically become apparent during the first... | Symptoms of Acromesomelic Dysplasia. Acromesomelic dysplasia (AMD) is characterized by inhibition of growth of certain long bones (i.e. bones of the forearms and lower legs). As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typic... | 22 | Acromesomelic Dysplasia |
nord_22_2 | Causes of Acromesomelic Dysplasia | There are thought to be five types of acromesomelic dysplasia. Each is extremely rare, and each is inherited as an autosomal recessive genetic trait, except for AMD Osebold-Remondini type, which appears to be autosomal dominant. The Maroteaux type has been traced to chromosome 9 at gene map locus 9p13-12. Grebe dysplas... | Causes of Acromesomelic Dysplasia. There are thought to be five types of acromesomelic dysplasia. Each is extremely rare, and each is inherited as an autosomal recessive genetic trait, except for AMD Osebold-Remondini type, which appears to be autosomal dominant. The Maroteaux type has been traced to chromosome 9 at ge... | 22 | Acromesomelic Dysplasia |
nord_22_3 | Affects of Acromesomelic Dysplasia | As of 2005, there were about 10 affected individuals of Hunter-Thompson type ADM and about 40 to 50 patients of Maroteaux type AMD reported in the medical literature. The number of cases of Grebe type ADM is not known, but that type is believed to be almost entirely limited to persons living in Brazil. | Affects of Acromesomelic Dysplasia. As of 2005, there were about 10 affected individuals of Hunter-Thompson type ADM and about 40 to 50 patients of Maroteaux type AMD reported in the medical literature. The number of cases of Grebe type ADM is not known, but that type is believed to be almost entirely limited to person... | 22 | Acromesomelic Dysplasia |
nord_22_4 | Related disorders of Acromesomelic Dysplasia | Achondroplasia is the most common disorder of short-limbed dwarfism. Affected individuals have arms and legs that are very short, while the torso is more nearly normal in size. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individual... | Related disorders of Acromesomelic Dysplasia. Achondroplasia is the most common disorder of short-limbed dwarfism. Affected individuals have arms and legs that are very short, while the torso is more nearly normal in size. During fetal development and childhood, cartilage normally develops into bone, except in a few pl... | 22 | Acromesomelic Dysplasia |
nord_22_5 | Diagnosis of Acromesomelic Dysplasia | In most patients, acromesomelic dysplasia is diagnosed within the first few years of life based upon a thorough clinical evaluation, detailed patient history, identification of characteristic findings, and advanced imaging techniques. Although the hands and feet may appear unusually short and broad at birth, the progre... | Diagnosis of Acromesomelic Dysplasia. In most patients, acromesomelic dysplasia is diagnosed within the first few years of life based upon a thorough clinical evaluation, detailed patient history, identification of characteristic findings, and advanced imaging techniques. Although the hands and feet may appear unusuall... | 22 | Acromesomelic Dysplasia |
nord_22_6 | Therapies of Acromesomelic Dysplasia | TreatmentThe treatment of acromesomelic dysplasia is directed toward the specific symptoms and physical characteristics that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who assess and treat skeletal abnormalities (orthopedists), phy... | Therapies of Acromesomelic Dysplasia. TreatmentThe treatment of acromesomelic dysplasia is directed toward the specific symptoms and physical characteristics that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who assess and treat skel... | 22 | Acromesomelic Dysplasia |
nord_23_0 | Overview of Acromicric Dysplasia | Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inhe... | Overview of Acromicric Dysplasia. Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically)... | 23 | Acromicric Dysplasia |
nord_23_1 | Symptoms of Acromicric Dysplasia | Acromicric Dysplasia is an extremely rare inherited disorder that usually becomes apparent during late infancy. It is characterized by abnormally short hands and feet, growth delays leading to short stature, and mild facial abnormalities. Infants with Acromicric Dysplasia exhibit severe shortening of hands and feet. Ce... | Symptoms of Acromicric Dysplasia. Acromicric Dysplasia is an extremely rare inherited disorder that usually becomes apparent during late infancy. It is characterized by abnormally short hands and feet, growth delays leading to short stature, and mild facial abnormalities. Infants with Acromicric Dysplasia exhibit sever... | 23 | Acromicric Dysplasia |
nord_23_2 | Causes of Acromicric Dysplasia | Acromicric Dysplasia is an extremely rare disorder that, in most cases, appears to occur randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. | Causes of Acromicric Dysplasia. Acromicric Dysplasia is an extremely rare disorder that, in most cases, appears to occur randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. | 23 | Acromicric Dysplasia |
nord_23_3 | Affects of Acromicric Dysplasia | Acromicric Dysplasia is an extremely rare disorder that, in theory, affects males and females in equal numbers. Only a very small number of cases have been reported in the medical literature. | Affects of Acromicric Dysplasia. Acromicric Dysplasia is an extremely rare disorder that, in theory, affects males and females in equal numbers. Only a very small number of cases have been reported in the medical literature. | 23 | Acromicric Dysplasia |
nord_23_4 | Related disorders of Acromicric Dysplasia | Symptoms of the following disorders can be similar to those of Acromicric Dysplasia. Comparisons may be useful for a differential diagnosis: Acrodysostosis is an extremely rare disorder characterized by abnormally short, malformed bones in the hands and feet (peripheral dysostosis), underdevelopment of the nose (nasal... | Related disorders of Acromicric Dysplasia. Symptoms of the following disorders can be similar to those of Acromicric Dysplasia. Comparisons may be useful for a differential diagnosis: Acrodysostosis is an extremely rare disorder characterized by abnormally short, malformed bones in the hands and feet (peripheral dysos... | 23 | Acromicric Dysplasia |
nord_23_5 | Diagnosis of Acromicric Dysplasia | Acromicric Dysplasia may be diagnosed based upon a thorough clinical evaluation, characteristic physical findings (e.g., abnormally short hands), a detailed patient history, and a variety of specialized tests such as advanced imaging techniques. X-rays may reveal characteristic abnormalities of the bones in the hands a... | Diagnosis of Acromicric Dysplasia. Acromicric Dysplasia may be diagnosed based upon a thorough clinical evaluation, characteristic physical findings (e.g., abnormally short hands), a detailed patient history, and a variety of specialized tests such as advanced imaging techniques. X-rays may reveal characteristic abnorm... | 23 | Acromicric Dysplasia |
nord_23_6 | Therapies of Acromicric Dysplasia | TreatmentThe treatment of Acromicric Dysplasia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), physical therapists, and/or other... | Therapies of Acromicric Dysplasia. TreatmentThe treatment of Acromicric Dysplasia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists)... | 23 | Acromicric Dysplasia |
nord_24_0 | Overview of ACTH Deficiency | ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a reduction in the secretion of adrenal hormones, resulting in adrenal insufficiency (hypoadrenalism). Adrenal insufficiency lea... | Overview of ACTH Deficiency. ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a reduction in the secretion of adrenal hormones, resulting in adrenal insufficiency (hypoadrenalis... | 24 | ACTH Deficiency |
nord_24_1 | Symptoms of ACTH Deficiency | ACTH deficiency can either be congenital or acquired, and its manifestations are clinically indistinguishable from those of glucocorticoid deficiency. Symptoms include weight loss, lack of appetite (anorexia), muscle weakness, nausea and vomiting, and low blood pressure (hypotension). Low blood levels of sugar and dilu... | Symptoms of ACTH Deficiency. ACTH deficiency can either be congenital or acquired, and its manifestations are clinically indistinguishable from those of glucocorticoid deficiency. Symptoms include weight loss, lack of appetite (anorexia), muscle weakness, nausea and vomiting, and low blood pressure (hypotension). Low b... | 24 | ACTH Deficiency |
nord_24_2 | Causes of ACTH Deficiency | The exact cause(s) of ACTH deficiency remain unknown. A defect in the brain’s hypothalamus or in the pituitary gland may cause the deficiency. Also, there is a congenital (present at birth) form of ACTH deficiency that has been tracked to mutations of the T-box 19 (TBX19) gene (also referred to as TPIT) on the long arm... | Causes of ACTH Deficiency. The exact cause(s) of ACTH deficiency remain unknown. A defect in the brain’s hypothalamus or in the pituitary gland may cause the deficiency. Also, there is a congenital (present at birth) form of ACTH deficiency that has been tracked to mutations of the T-box 19 (TBX19) gene (also referred ... | 24 | ACTH Deficiency |
nord_24_3 | Affects of ACTH Deficiency | Symptoms of ACTH deficiency most often occur in adults, but the disorder may also be diagnosed in infancy. The disorder affects males and females in equal numbers. | Affects of ACTH Deficiency. Symptoms of ACTH deficiency most often occur in adults, but the disorder may also be diagnosed in infancy. The disorder affects males and females in equal numbers. | 24 | ACTH Deficiency |
nord_24_4 | Related disorders of ACTH Deficiency | Symptoms of the following disorders may be similar to those of ACTH Deficiency. Comparisons may be useful for a differential diagnosis:Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged. ... | Related disorders of ACTH Deficiency. Symptoms of the following disorders may be similar to those of ACTH Deficiency. Comparisons may be useful for a differential diagnosis:Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland... | 24 | ACTH Deficiency |
nord_24_5 | Diagnosis of ACTH Deficiency | When ACTH deficiency is suspected, blood samples are taken for analysis, especially of the level of cortisol in the blood. Cortisol is the name of one of the hormones produced by the outer portion (cortex) of the adrenal glands. If the concentration of cortisol is low, it typically indicates a low concentration of ACTH... | Diagnosis of ACTH Deficiency. When ACTH deficiency is suspected, blood samples are taken for analysis, especially of the level of cortisol in the blood. Cortisol is the name of one of the hormones produced by the outer portion (cortex) of the adrenal glands. If the concentration of cortisol is low, it typically indicat... | 24 | ACTH Deficiency |
nord_24_6 | Therapies of ACTH Deficiency | TreatmentHormone replacement therapy with cortisol is the treatment of choice for this disorder. With such therapy, patients can lead a normal life. | Therapies of ACTH Deficiency. TreatmentHormone replacement therapy with cortisol is the treatment of choice for this disorder. With such therapy, patients can lead a normal life. | 24 | ACTH Deficiency |
nord_25_0 | Overview of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | Summary
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare, inherited condition that affects the way the immune system works. The most common symptoms of APDS are frequent upper respiratory tract infections, sinus infections, ear infections, bronchitis and pneumonia (lung infection). Most people with A... | Overview of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). Summary
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare, inherited condition that affects the way the immune system works. The most common symptoms of APDS are frequent upper respiratory tract infections, sinus infections, ear in... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_1 | Symptoms of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | APDS affects each person differently. Some people have very mild symptoms, while others are much more severely impacted. Most people with APDS begin to have symptoms in childhood. However, symptoms can begin at any age, and some people do not develop symptoms until adulthood. There are some reports of people who have b... | Symptoms of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). APDS affects each person differently. Some people have very mild symptoms, while others are much more severely impacted. Most people with APDS begin to have symptoms in childhood. However, symptoms can begin at any age, and some people do not develo... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_2 | Causes of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | APDS is caused by pathogenic variants in either the PIK3CD gene (APDS1) or the PIK3R1 gene (APDS2). Both genes are important for the growth, survival and function of certain types of immune cells called T cells and B cells. These are specialized white blood cells that help fight infection. Pathogenic variants in these ... | Causes of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). APDS is caused by pathogenic variants in either the PIK3CD gene (APDS1) or the PIK3R1 gene (APDS2). Both genes are important for the growth, survival and function of certain types of immune cells called T cells and B cells. These are specialized white... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_3 | Affects of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | APDS has been diagnosed in people from around the world and does not seem to be more common in any one ethnic group. It affects males and females equally. The exact number of people with this condition is unknown. | Affects of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). APDS has been diagnosed in people from around the world and does not seem to be more common in any one ethnic group. It affects males and females equally. The exact number of people with this condition is unknown. | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_4 | Related disorders of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | Hyper-IgM Syndrome (HIGM)Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder that is usually inherited as an X-linked recessive condition. People with this disorder have low levels of IgG, IgA and IgE antibodies. Levels of IgM antibodies may be high or in the normal range. Symptoms and physical findin... | Related disorders of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). Hyper-IgM Syndrome (HIGM)Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder that is usually inherited as an X-linked recessive condition. People with this disorder have low levels of IgG, IgA and IgE antibodies. Levels of... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_5 | Diagnosis of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | APDS is diagnosed based on the symptoms, clinical examination, a detailed family history and laboratory testing to look for abnormalities in the levels and function of immune cells. Because APDS can look like other immunodeficiencies, genetic testing is necessary to make a specific diagnosis. Genetic testing for immuno... | Diagnosis of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). APDS is diagnosed based on the symptoms, clinical examination, a detailed family history and laboratory testing to look for abnormalities in the levels and function of immune cells. Because APDS can look like other immunodeficiencies, genetic testi... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_25_6 | Therapies of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) | Treatment for APDS is focused on managing the symptoms. APDS is treated using a combination of long-term immunoglobulin replacement therapy to help support the immune system and immunosuppressive medications to help with symptoms due to autoimmunity and inflammation. In addition, people with APDS often require daily an... | Therapies of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS). Treatment for APDS is focused on managing the symptoms. APDS is treated using a combination of long-term immunoglobulin replacement therapy to help support the immune system and immunosuppressive medications to help with symptoms due to autoimmunit... | 25 | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
nord_26_0 | Overview of Acute Cholecystitis | The gallbladder is a small pear shaped organ that stores and concentrates bile used for digestion of fats. Bile is a compound composed mainly of cholesterol, bile salts and bilirubin, produced by the liver and stored in the gallbladder during fasting states. When food is consumed, it is partially digested by the stoma... | Overview of Acute Cholecystitis. The gallbladder is a small pear shaped organ that stores and concentrates bile used for digestion of fats. Bile is a compound composed mainly of cholesterol, bile salts and bilirubin, produced by the liver and stored in the gallbladder during fasting states. When food is consumed, it i... | 26 | Acute Cholecystitis |
nord_26_1 | Symptoms of Acute Cholecystitis | Acute Calculous Cholecystitis The specific symptoms associated with cholecystitis vary among patients. Upper abdominal pain, often localized to the right upper quadrant, is the most common symptom. In acute calculous cholecystitis, the pain is often sudden and intense but it can be described as cramping, dull, or stead... | Symptoms of Acute Cholecystitis. Acute Calculous Cholecystitis The specific symptoms associated with cholecystitis vary among patients. Upper abdominal pain, often localized to the right upper quadrant, is the most common symptom. In acute calculous cholecystitis, the pain is often sudden and intense but it can be desc... | 26 | Acute Cholecystitis |
nord_26_2 | Causes of Acute Cholecystitis | Acute Calculous CholecystitisThe medical term for the presence of a gallstone is cholelithiasis. Approximately 90 percent of cases of cholecystitis are associated with the presence of a gallstone obstructing the cystic duct (calculous cholecystitis), often resulting in buildup of cholesterol- saturated bile in the gall... | Causes of Acute Cholecystitis. Acute Calculous CholecystitisThe medical term for the presence of a gallstone is cholelithiasis. Approximately 90 percent of cases of cholecystitis are associated with the presence of a gallstone obstructing the cystic duct (calculous cholecystitis), often resulting in buildup of choleste... | 26 | Acute Cholecystitis |
nord_26_3 | Affects of Acute Cholecystitis | Although the incidence of acute cholecystitis is unknown, about 120,000 Americans are treated for acute cholecystitis annually. At age 65, 25% of women and 12% of men will have gallstone disease. Approximately 10% of all patients with symptomatic gallstones will develop cholecystitis. If the gallbladder is not remove... | Affects of Acute Cholecystitis. Although the incidence of acute cholecystitis is unknown, about 120,000 Americans are treated for acute cholecystitis annually. At age 65, 25% of women and 12% of men will have gallstone disease. Approximately 10% of all patients with symptomatic gallstones will develop cholecystitis. ... | 26 | Acute Cholecystitis |
nord_26_4 | Related disorders of Acute Cholecystitis | Symptoms of the following disorders can be similar to those of cholecystitis. Comparisons may be useful for a differential diagnosis.Acute emphysematous cholecystitis (clostridial cholecystitis) occurs when gas forming bacteria like Clostridium and E. Coli cause acute infection and cell death (necrosis) in the gallblad... | Related disorders of Acute Cholecystitis. Symptoms of the following disorders can be similar to those of cholecystitis. Comparisons may be useful for a differential diagnosis.Acute emphysematous cholecystitis (clostridial cholecystitis) occurs when gas forming bacteria like Clostridium and E. Coli cause acute infection... | 26 | Acute Cholecystitis |
nord_26_5 | Diagnosis of Acute Cholecystitis | Acute cholecystitis has no single clinical or laboratory finding with the level of diagnostic accuracy needed for diagnosis. Instead, the recommended diagnostic technique combines clinical observations with an abdominal ultrasound. The Tokyo Guidelines require one local sign or symptom, one systemic sign, and a confirm... | Diagnosis of Acute Cholecystitis. Acute cholecystitis has no single clinical or laboratory finding with the level of diagnostic accuracy needed for diagnosis. Instead, the recommended diagnostic technique combines clinical observations with an abdominal ultrasound. The Tokyo Guidelines require one local sign or symptom... | 26 | Acute Cholecystitis |
nord_26_6 | Therapies of Acute Cholecystitis | Treatment
When first admitted for ACC, patients receive nothing by mouth as they may need immediate surgery. The primary treatment for the disease is usually cholecystectomy, the surgical removal of the entire gallbladder. Surgical removal of just the gallstones has a high rate of pathological recurrence within 5 years... | Therapies of Acute Cholecystitis. Treatment
When first admitted for ACC, patients receive nothing by mouth as they may need immediate surgery. The primary treatment for the disease is usually cholecystectomy, the surgical removal of the entire gallbladder. Surgical removal of just the gallstones has a high rate of path... | 26 | Acute Cholecystitis |
nord_27_0 | Overview of Acute Disseminated Encephalomyelitis | SummaryAcute disseminated encephalomyelitis (ADEM) is a neurological, immune-mediated disorder in which widespread inflammation of the central nervous system (brain and spinal cord) damages tissue known as white matter. White matter is composed of nerve fibers that are covered by a collection of fats and proteins known... | Overview of Acute Disseminated Encephalomyelitis. SummaryAcute disseminated encephalomyelitis (ADEM) is a neurological, immune-mediated disorder in which widespread inflammation of the central nervous system (brain and spinal cord) damages tissue known as white matter. White matter is composed of nerve fibers that are ... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_1 | Symptoms of Acute Disseminated Encephalomyelitis | Symptoms of ADEM can present within days to weeks following an infection. In a subset of patients, there is no identifiable infectious “trigger” for ADEM. Most commonly, ADEM occurs only once in a particular individual, meaning the disease is most often considered a monophasic disorder; however, a small percentage of p... | Symptoms of Acute Disseminated Encephalomyelitis. Symptoms of ADEM can present within days to weeks following an infection. In a subset of patients, there is no identifiable infectious “trigger” for ADEM. Most commonly, ADEM occurs only once in a particular individual, meaning the disease is most often considered a mon... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_2 | Causes of Acute Disseminated Encephalomyelitis | The exact cause of ADEM is not known but it may be associated with an atypical immune response following an infectious trigger. An initial illness or infection is observed in 70-80% of patients with ADEM. For instance, ADEM can develop following an upper respiratory tract viral infection. Other ADEM inducing infections... | Causes of Acute Disseminated Encephalomyelitis. The exact cause of ADEM is not known but it may be associated with an atypical immune response following an infectious trigger. An initial illness or infection is observed in 70-80% of patients with ADEM. For instance, ADEM can develop following an upper respiratory tract... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_3 | Affects of Acute Disseminated Encephalomyelitis | ADEM can develop at any age but is much more frequent in younger children. Outcomes and severity of ADEM are typically worse in adults than in children. Males and females are affected, but males may be affected more often. In children, the mean age of onset is between 5-8 years old, but ADEM has been diagnosed in child... | Affects of Acute Disseminated Encephalomyelitis. ADEM can develop at any age but is much more frequent in younger children. Outcomes and severity of ADEM are typically worse in adults than in children. Males and females are affected, but males may be affected more often. In children, the mean age of onset is between 5-... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_4 | Related disorders of Acute Disseminated Encephalomyelitis | Symptoms of the following disorders can be similar to those of ADEM. Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system involving the brain, spinal cord and optic nerves. As a result of an unknown mechanism in MS, the myelin sheath that surrounds the nerve is destroyed. The inflamm... | Related disorders of Acute Disseminated Encephalomyelitis. Symptoms of the following disorders can be similar to those of ADEM. Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system involving the brain, spinal cord and optic nerves. As a result of an unknown mechanism in MS, the myeli... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_5 | Diagnosis of Acute Disseminated Encephalomyelitis | A diagnosis of ADEM is made based on the identification of characteristic symptoms, a detailed patient history, thorough clinical evaluation and a variety of specialized tests including imaging techniques such as magnetic resonance imaging (MRI). An MRI uses a magnetic field and radio waves to produce cross-sectional i... | Diagnosis of Acute Disseminated Encephalomyelitis. A diagnosis of ADEM is made based on the identification of characteristic symptoms, a detailed patient history, thorough clinical evaluation and a variety of specialized tests including imaging techniques such as magnetic resonance imaging (MRI). An MRI uses a magnetic... | 27 | Acute Disseminated Encephalomyelitis |
nord_27_6 | Therapies of Acute Disseminated Encephalomyelitis | TreatmentNo standard therapy for ADEM has been established. Most therapies that have been used to treat ADEM have some effect of modifying the activity of the host immune system. Such therapies include corticosteroids, immunoglobulin (IVIg) therapy or plasmapheresis. High doses of corticosteroids are the primary treatm... | Therapies of Acute Disseminated Encephalomyelitis. TreatmentNo standard therapy for ADEM has been established. Most therapies that have been used to treat ADEM have some effect of modifying the activity of the host immune system. Such therapies include corticosteroids, immunoglobulin (IVIg) therapy or plasmapheresis. H... | 27 | Acute Disseminated Encephalomyelitis |
nord_28_0 | Overview of Acute Eosinophilic Pneumonia | SummaryAcute eosinophilic pneumonia (AEP) is a rare disorder characterized by the rapid accumulation of eosinophils in the lungs (pulmonary eosinophilia). Eosinophils are a type of white blood cell and are part of the immune system. They are usually produced in response to allergens, inflammation or infection (especial... | Overview of Acute Eosinophilic Pneumonia. SummaryAcute eosinophilic pneumonia (AEP) is a rare disorder characterized by the rapid accumulation of eosinophils in the lungs (pulmonary eosinophilia). Eosinophils are a type of white blood cell and are part of the immune system. They are usually produced in response to alle... | 28 | Acute Eosinophilic Pneumonia |
nord_28_1 | Symptoms of Acute Eosinophilic Pneumonia | AEP is characterized by a sudden, rapid onset of symptoms usually within 1-7 days. However, in some cases, symptoms may develop less rapidly over the course of up to one month. AEP often develops in young, otherwise healthy individuals. Associated symptoms are nonspecific and can include fever, cough, difficulty breath... | Symptoms of Acute Eosinophilic Pneumonia. AEP is characterized by a sudden, rapid onset of symptoms usually within 1-7 days. However, in some cases, symptoms may develop less rapidly over the course of up to one month. AEP often develops in young, otherwise healthy individuals. Associated symptoms are nonspecific and c... | 28 | Acute Eosinophilic Pneumonia |
nord_28_2 | Causes of Acute Eosinophilic Pneumonia | The cause of IAEP is unknown (idiopathic). Researchers believe that AEP develops due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils and recruit them to the lungs. The exact reason for the overproduction and accumulation of eosinophils is unknown.Several environmental factor... | Causes of Acute Eosinophilic Pneumonia. The cause of IAEP is unknown (idiopathic). Researchers believe that AEP develops due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils and recruit them to the lungs. The exact reason for the overproduction and accumulation of eosinophils... | 28 | Acute Eosinophilic Pneumonia |
nord_28_3 | Affects of Acute Eosinophilic Pneumonia | AEP affects males approximately twice as often as females. Fewer than 200 cases have been reported in the medical literature and the exact prevalence is unknown. AEP can affect individuals of any age, but occurs most often in individuals between 20-40 years of age. | Affects of Acute Eosinophilic Pneumonia. AEP affects males approximately twice as often as females. Fewer than 200 cases have been reported in the medical literature and the exact prevalence is unknown. AEP can affect individuals of any age, but occurs most often in individuals between 20-40 years of age. | 28 | Acute Eosinophilic Pneumonia |
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