76 results found for "blas"
The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation. [read more]
Achondroplasia is a kind of autosomal disorder of the dominant genes which commonly causes dwarfism. Achondroplastic dwarfs are short in stature and their average height when they reach adulthood is at 123 centimeters (about 4 feet and 0.6 inches) for females and 131 centimeters (about 4 feet and 3.8 inches) for males. [read more]
Acute erythroblastic leukemia is also known by other medical terms such as erythremic myelosis, erythroleukemia and the DiGuglielmo syndrome, which is the uncontrolled production of immature and undeveloped erythrocytes, more popularly known as the red blood cells. This type of leukemia is a rare form of cancer that originates from the marrow and blood. [read more]
Acute lymphoblastic leukemia, otherwise known as acute lymphocytic leukemia is another form of cancer of the white blood cells. In this case, the immature and malignant white blood cells continues to multiply in an abnormally rapid thereby causing overproduction in the bone marrow. This disease causes damage and death by actively crowding out the Bone marrow's normal cells and spread to the other organs in the body. ALL is found to be common among children and young adults. [read more]
Acute monoblastic leukemia otherwise known as acute monocytic leukemia is an acute type of myeloid leukemia. For patients to be considered a victim of AML-M5, he must have more than 20% blasts in the marrow. Monoblasts are largely distinguished for displaying a rough, circular nucleus and a delicate lacy chromatin. [read more]
Pernicious anemia, also called ?Addisson's anemia? or ?Biermer's anaemia?, is a type of megalobastic anemia caused by vitamin B12 deficiency. This condition is the most common cause of vitamin B12 deficiency in adults. [read more]
Sideroblastic anemia is a condition caused by the abnormal production of red blood cells, normally as a part of myelodysplastic syndrome that can evolve into hematological malignancies, such as acute myelogenous leukemia. When this happens, the patient's body will have iron, but it cannot incorporate this into the hemoglobin. [read more]
Angiomatosis is a condition that refers to ?little knots? of capillaries in different organs. Angiomatosis tend to be defined, sponge-like, sharp tumors that are composed of dilated and large cavernous vascular spaces. Angiomatosis often appears in people with Sturge-Weber syndrome, Bacillary angiomatosis, Von-Hippel-Lindau disease and Klippel-Trenaunay-Weber syndrome. [read more]
Anosmia is a condition wherein patients experience the loss of temporary or permanent ability to smell. Hyposmia is a related condition wherein patients experience a decrease in their ability to smell, while ?hyperosmia? is a condition that causes an increase in the patient's ability to smell. However, when a person loses his sense of smell for a particular odor, he is suffering from a genetically based disorder called ?specific anosmia?. ?Congenital Anosmia? refers to the condition wherein a person is born without the sense of smell. Anosmia can be associated with other conditions, such as cystic fibrosis, zinc deficiency, cadmium poisoning, allergies, Refsum disease, holoprosencephaly, Alzheimer's disease, Kallman syndrome and Parkinson's disease. [read more]
Arachnoidal Fibroblastoma, commonly known as Meningioma, is a tumor of the meninges, a part of the brain that protects the spinal cord and brain. This condition can develop in any part of the spinal cord or brain, but usually start in the cerebral hemispheres. Most Arachnoidal Fibroblastoma are benign, but malignant types of this condition occur. This condition accounts to one in every five brain tumors and is mostly found in middle-aged adults. [read more]
An error of metabolism that is inherent is known as Arakawa's syndrome II. A hereditary disorder caused by the absence of the enzyme tetrahydrofolate-methyltransferase. People who has this disease cannot properly digest methylcobalamin a kind of Vitamin B12. Other terms for this disease are Methionine synthase deficiency, N5-methylhomocysteine transferase deficiency and Tetrahydrofolate-methyltransferase deficiency syndrome. [read more]
Bilateral renal agenesis is uncommon and is a serious condition, related to Potter's Syndrome. Bilateral renal agenesis is the lack of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop as a fetus inside the womb. This absence of kidneys results to a deficiency of amniotic fluid (or oligohydramnios) in a pregnant woman. Normally, the amniotic fluid serves as a cushion for the developing fetus. When there is not enough amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. It is the consequence of failure of differentiation of the metanephric blastema during the 25?28th day of development and both ureters and kidneys and renal arteries are missing. This disorder is more commonly found in infants born of a parent who has a kidney malformation, particularly the absence of one kidney (or unilateral renal agenesis). Studies have proven that unilateral renal agenesis and bilateral renal agenesis are genetically related to eachother. 1 out of 3 infants with this congenital defect are not born alive. Most infants that are born alive do not live beyond the coarse of four hours. [read more]
Blastocystis hominis infection is an infection caused by a microscopic parasite known as B. hominis, which is commonly found in human stools. [read more]
A blastoma is a type of cancer that is brough about by malignancies in precursor cells, often called blasts. It is a tumor thought to result from embryonic tissue. The term "blastoma" is generally used as part of the name for a tumor as, for examples, in glioblastoma and medulloblastoma (types of brain tumors), hepatoblastoma (a liver tumor), nephroblastoma ( Wilms tumor of the kidney), neuroblastoma (a childhood tumor of neural origin), osteoblastoma (a bone tumor) and retinoblastoma (a tumor of the retina). A blastoma is a neoplasm composed of immature and undifferentiated cells derived from the blastema of an organ or tissue. [read more]
Blastomycosis is a fungal infection caused by the Blastomyces dermatitidis organism. Blastomycosis causes clinical symptoms that have similarites to histoplasmosis. The organism causing blastomycosis is endemic to portions of North America. [read more]
Bothriocephalosis (also known as Diphyllobothriasis) is an infection with an intestinal parasite. The parasite is a fish tapeworm known as Diphyllobothrium latum. Human infection is caused by eating undercooked fish contaminated with the bacteria. Adult tapeworms may infect humans, felines, canids, pinnipeds, bears, and mustelids, though the accuracy of the records for some of the nonhuman species is disputed. Immature eggs are passed in the feces of the mammal host (the definitive host, where the worms reproduce). [read more]
Bourneville's disease (also known as Tuberous sclerosis) is characterized by facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognised as angiofibromas. It produces tuberous sclerosis occurring in association with adenoma sebaceum. It is syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum (overgrowth of the sebaceous glands) of the face, hamartomatous tumours of the heart and kidney, and cerebral cortical tubers (hence the name "tuberous sclerosis"). It is heredofamilial and usually shows itself early in life. Females are more often affected by this disease than males. Incomplete forms of the syndrome can manifest. Bourneville's disease is transmitted as an autosomal dominant trait with variable expressivity. [read more]
Cancer is a group of diseases in which cells are hostile, invasive, and sometimes metastatic. These three are considered malignant properties of cancers that differentiate them from benign tumors. Although some benign tumor types are capable of being malignant, they are usually self-limited in their growth and don't invade or metastasize. People from all ages, even fetuses, may be affected with cancer but age is a factor that can raise the risks for more common varieties. About 13% of all deaths are caused by cancer and according to the American Cancer Society, 7.6 million people died from cancer in 2007 across the world. Even plants and animals may be affected by cancer. Abnormalities in the genetic material of the transformed cells practically cause all cancers. Carcinogens such as tobacco smoke, chemicals, radiation or infectious agents may have caused said abnormalities. Some however, may be randomly acquired through errors in DNA replication or inherited. DNA methylation and microRNAs are new aspect of the genetics of cancer pathogenesis that are gaining importance. The tissues from which the cancerous cells originate are used as bases in classifying cancer. There are also two general classes of genes affected by cancer anmely the oncogenes and tumor suppressor genes. [read more]
Chondroblastoma is a relatively rare but benign bone tumor which grows slowly in the affected part of a person's body. It comes from chondroblasts or cartilage cells and usually leads to the deterioration of muscles, extreme pain in the bones and immobility of the joint. When not treated, chondrolastoma may affect other organs particularly at the lungs. [read more]
Choriocarcinoma is a kind of malignant cancer under the group of gestational trophoblastic diseases (GTD). This cancer targets the placenta, and commonly attacks women, rather than men. [read more]
Chromomycosis, also known as chromoblastomycosis, is a fungal infection common in places of tropical climate. It can be caused by different types of fungi that thrive under the skin and spreads slowly and becomes difficult to treat. [read more]
Congenital mesoblastic nephroma is a type of tumor of the kidney that is usually detected before birth through ultrasound, typically during the first three months of fetal development. The tumor contains fibroblastic cells or the connective cell tissues and may continue to spread to the other kidney or neighboring tissues. This congenital disorder has been found to be more prevalent among males. [read more]
Copper transport disease is a hereditary disorder involving copper metabolism, passed on as X-linked trait. Copper builds up at unusually low levels in the brain and liver, but higher level than normal in the intestinal lining and kidney. [read more]
CREST syndrome (Calcinosis Raynaud's Esophagus Sclerodactyly Telangiectasia) is a disorder caused by a glitch in our connective tissues, the substance found outside our cells that hold the tissues and organs of our bodies together. It can be a benign condition that won't affect our bodily functions, yet in some cases it can be serious and fatal. A subset of sleroderma, it causes problems in the skin and blood vessels, and in extreme cases, lungs, digestive tract or heart. [read more]
Dentinogenesis imperfecta is a disorder of tooth development brought about by abnormal genetic mutations in the DSPP gene. It causes discolorations in teeth and development of abnormally weak dentin causing teeth to break easily, and break easily as well. It is otherwise called as hereditary Opalescent Dentin. Researchers have identified three types of this disease. [read more]
Dermatofibroma is a lesion or a dermal tumor, mostly benign, laid ot by fibroblasts. It is characterized by hard papules in different colors ranging from brown to tan. In some cases, Dermatofibroma can become itchy and tender. It is also believed to be a reaction of the skin to previous injuries. Some are rare malignant fibrohistocytic tumors whuch are usually deep penetrating. [read more]
Eosinophilic granuloma is a rare disease often involving proliferation of clones of the langerhans cells, ana some abnormal cells from the bone marrow which are and capable of migrating from the skin to the lymph nodes. In a clinical test, its presentations may range from an isolated bone lesions to a disease involving many parts of the body systems. [read more]
Ependymoblastoma is a malignant tumor which is very rarely reported. It is also known as Primitive neuroectodermal tumor or PNET. It usually occurs in children who are under 10 years of age. Ependyoblastoma is classified into two types which is based on its location in the body. It can be peripheral PNET or CNS PNET. [read more]
Ependymoma is a tumor that usually arises from the ependyma. Ependyma a tissue located in the central nervous system. Most of the time, the location of the tumor in children is in the intracranial, while the location of the tumor is in the spinal in the case of adults. The most common location of the intracranial ependymoma is in the fourth ventricle. It is only very rarely that ependymoma occurs in the pelvis or in the pelvic cavity. It is believed that Ependyomoma may have cause Syringomyelia. These tumors are also seen with Type 2 Neurofibromatosis. [read more]
The term fibromatosis specifically refers to the certain group of benign soft tissue tumors that presents particular characteristics that includes the absence of clinical malignant and cytologic features. The histology of fibromatosis is consistent with the proliferation of some well-differentiated fibroblasts, with filtrative growth patterns and rather aggressive clinical behavior. The mass usually be characterized by dense fibrocellular tissues that contain some mature fibrocytes and collagen that may be in various stages of maturation. These mass have atypical features and may have abnormal mitotic activity. [read more]
Fibrosarcoma is characterized as a tumor of the mesenchymal cell origin that is primarily composed of several malignant fibroblasts in collagen background. It typically occurs as a soft-tissue mass or a bone tumor. There are generally two main types of fibroscarcoma: primary and seconday. The former involves a fibroplastic malignancy producing varying amounts of collagen. Secondary fibrosarcoma results from a preexisting lesion. [read more]
Gestational trophoblastic disease is a group of many other diseases that are all involved with the abnormal growth of cells in the uterus. It does not grow from the cells of the uterus. These are rare but treatable tumors that start in the tissues and they develop after the conception when the egg fertilizes the sperm. There are four types of gestational trophoblastic disease: Hydatidiform mole, persistent/invasive trophoblastic disease, choriocarcinoma and placental site trophoblastic tumors. [read more]
Glioblastoma is a variety of central nervous system tumors, caused by glial cells. The brain is the most commonly affected area; however, the tumor can also occur in any other part of the central nervous system. [read more]
Glioblastoma multiforme is the highest grade brain tumor, and is also the most aggressive and most common type. It is also the most malignant form of gliomas characterized by star-shaped cells, called astrocystoma tumors. [read more]
Gliosarcoma is a malignant cancer and a glioblastoma consisting of gliomatous and sarcomatous components. Most gliomas do not show metastases outside the cerebrum however gliosarcoma being a rare type of glioma, have propensity to do so and are most commonly spreading through the blood to the lungs and liver including the lymph nodes (Beumont et. al. (2007). "Gliosarcoma with multiple extracranial metastases: case report and review of the literature". J. Neurooncology 83: 39-46). [read more]
Hemangioblastoma is a disease of the central nervous system characterized by benign brain tumors, usually occurring in the cerebellum. The tumors represent cysts, and contain small solid nodules inside. The small nodules contain abnormal blood vessels in a tangle. Hemangioblastomas are most commonly occurring in those ranging from 35 to 45 years old. [read more]
Hemolytic disease of the newborn, or erythroblastosis fetalis, is an alloimmune state wherein the IgG antibodies produced by a pregnant mother attack the red blood cells that circulate in the fetus. This condition causes reticulocytosis and anemia. This can be a dreaded disease and can lead to heart failure. [read more]
Hepatoblastoma is a rare malignant liver neoplasm arising in infants and children and composed of tissue resembling fetal or mature liver cells or bile ducts. They are generally present with an abdominal mass. Alpha-fetoprotein (AFP) commonly is heightened but when AFP is not elevated at diagnosis the prognosis is poor. [read more]
A hydatidiform mole (or hydatid mole, mola hytadidosa) is an anomalous growth containing a nonviable embryo which implants and proliferates within the uterus. [read more]
Hydrops fetalis is a condition in the fetus marked by an accumulation of fluid, or edema, in at least two fetal compartments, including the subcutaneous tissue, pleura, pericardium, or in the abdomen, which is also known as ascites. The edema is typically seen in the fetal subcutaneous tissue, sometimes leading to spontaneous abortion. It is a prenatal form of heart failure, in which the heart has failed to satisfy the insatiable demand for an unusually high amount of blood flow. [read more]
Hypothalamic hamartoblastoma syndrome, also known as Pallister-Hall syndrome syndrome, is a disease characterized by an abnormal growth in the brain known as hypothalamic hamartoma. Hypothalamic hamartoblastoma syndrome affects many parts of the body but does not pose serious complications most of the time. While the growths often do not cause any health problems they sometime lead to seizures and other life-threatening conditions. Some individuals with this disease have an obstruction in their anal opening, malformation of their airways and even kidney abnormalities. [read more]
Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, nails and teeth. It is also called Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus. [read more]
Jackson-Weiss Syndrome is a rare genetic disorder characterized by bone malformation including fusion of foot bones and premature joining together of some bones in the skull, which impedes the normal growth of the skull; thus create deformity to the face and head. [read more]
The Lesch-Nyhan syndrome is a rare hereditary disorder which is transmitted by the mother to her male offspring. Patients with the disease suffer from sever mental and physical disabilities as well as self-mutilating behaviors all throughout life. [read more]
Lymphoblastic lymphoma is a rare medical condition that is considered as an uncommon form of aggressive Non-Hodgkin Lymphoma or NHL. [read more]
Large cell, immunoblastic lymphoma is a type of non-Hodgkin's lymphoma, which is highly malignant. It is characterized by large lymphoblasts that have a diffuse pattern of infiltration. [read more]
By definition, medulloblastoma is an extremely malignant primary brain tumor that comes from the cerebellum or posterior fossa of the human brain. It belongs to the family of tumors knows as cranial primitive neuroectodermal tumors or PNET. [read more]
By definition, Megaloblastic anemia is a rare form of anemia classified as macrocytic that result when DNA synthesis is inhibited in the body's red blood cell production [read more]
Hunter syndrome or mucopolysachharoidosis Type II is a lyososomal storage disease caused by a deficiency or absence of the enzyme idunorate-2-sulfatase (l2S). It is named after Scottish physician Charles A. Hunter who emigrated to Canada and practiced medicine there. [read more]
Myoxozoa is an exotic disease caused by a group of parasitic individuals called myxozoa. The term is from the Greek ?myx?, meaning slime or mucus, and ?zoa?, meaning animals. The myxozoa were originally believed to be protozoan, but were later distinguished to be metazoan through rDNA testing. [read more]
Neonatal ALD (short for neonatal adenoleukodystrophy) is a genetic disease affecting infants, causing damage to the adrenal gland and the myelin sheath, or the protective coating of the nerve cells. [read more]
Neuroblastoma is a type of cancer which affects infants and children which usually occurs and develops in the nerve cells of the body. It usually occurs in and around the adrenal glands but it some cases it may also grow in the chest, neck and pelvis. [read more]
Neuroblastoma is a neuroendocrine tumor, originating from any neural crest element of the sympathetic nervous system (SNS). The sympathetic nervous system is a branch of the autonomic nervous system. It is a nerve network responsible for carrying messages from the brain throughout the whole body. It is also the part of the brain responsible for fight-or-flight response and adrenaline or epinephrine production. Neuroblastoma commonly begins in one of the adrenal glands. [read more]
This condition is also known referred to as Multiple Basal Cell Carcinoma Syndrome, Basal Cell Nevus Syndrome, Gorlin-Goltz Syndrome or Gorlin Syndrome. This condition can be inherited. A person with this disease has multiple defects. Affected areas of the body include the skin, eyes and bones, nervous and endocrine systems. This condition had its very first definition in 1960. It is an autosomal dominant condition that causes unusual appearance of the face and a higher risk for cancer. 1 case per 56,000-164,000 population had been reported to have this condition. A child who had inherited the defective gene from either his mother or father will most likely have NBCCS. [read more]
Obesity is a clinical weight condition in which the body has 20 percent more weight than the recommended weight relative the an individual's height, which results in such illness as diabetes and heart disease. [read more]
Orotic aciduria is the excessive excretion of orotic acid in the urine. [read more]
Pallister-Hall syndrome is medical disorder that primarily affects the natural development of several parts of the body. Most people suffering this condition may have extra fingers on the toes and fingers as well as skin between the hands and feet. Other patients may suffer severe malformations. [read more]
Pancreatoblastoma is also known as the infantile form of pancreatic carcinoma. This medical condition is considered to be one of the extremely rare types of pancreatic tumor that typically develops during early childhood. In comparison to all other carcinomas, PB has been known to be less aggressive in infants as well as children than the cases found in adult. [read more]
Pediatric T-cell leukemia is a rare type of an acute lymphoblastic leukemia occuring to children. It is a cancer involving the lymphoblasts which forms lymphocyte cells. [read more]
Pernicious anemia is also popularly known as Biermer's anaemia and Addison's anaemia or even Addison-Biermer anaemia. This is a rare form of megaloblastic anemia which is due to deficiency in vitamin B12 which is caused by an impaired absorption of the vitamin because of the absence of some intrinsic factor especially in the setting of the atrophic gastritis, more specifically, loss of the gastric parietal cells. [read more]
Pinealoma is defined as a rare type of tumor that grows at a slow rate in the patient's brain. This disease is often referred to as pineocytoma or pinealocytoma. [read more]
Pneumonoultramicroscopicsilicovolcanoconiosis is a lung disease due to the inhalation of fine silica dust. [read more]
Pompe's disease is a metabolic disorder in which the body an acid maltase deficiency. [read more]
Posterior uveitis is a sub-class of uveitis, a condition characterized by an inflammation of the middle layer of the eye, which is called the uvea. Simply put, it is an inflammatory process involving the interior of the eye. Posterior uveitis refers to the inflammation of the retina and choroid. In the United States, 10% of the blindness cases are attributed to uveitis. Posterior uveitis is the rarer kind of uveitis. [read more]
Retinoblastoma pertains to cancer of the retina that affects children. If untreated, retinoblastoma is almost invariably fatal. [read more]
Rh disease, a condition affecting pregnant mothers, is one of the identified causes of hemolytic disease of the newborn (or HDN), and may range from mild to severe. In mild forms, Rh disease may cause mild anemia with reticulocytosis in the fetus. In moderate or severe forms, Rh disease can cause a more distinct anemia as well as erythroblastosis fetalis in the fetus. In its most severe form, the disease can lead to hydrops fetalis, morbus haemolyticus neonatorum, or even stillbirth. Rh disease is also alternatively called Rh (D) disease, RhD Hemolytic Disease of the Newborn, Rhesus disease, Rhesus D Hemolytic Disease of the Newborn or RhD HDN. [read more]
Sanfilippo syndrome pertains to a hereditary metabolism disorder characterized by the body's inability to properly break down complex sugar molecules called glycosaminoglycans. Sanfilippo syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS), and is sometimes called MPS II. [read more]
Granulocytic sarcoma is a form of chloroma, characterized by the appearance of a solid tumor consisting of myeloblasts (i.e. or white blood cells that are described as immature and malignant). It is also alternatively known as granulocytic sarcoma or (more appropriately) extramedullary myeloid tumor. Basically, a chloroma is a solid collection of leukemic cells found outside the bone marrow; in particular, it is an extramedullary symptom of acute myeloid leukemia. [read more]
Sideroblastic anemia, autosomal is a type of sideroblastic anemia that is inherited in autosomal recessive mode of transmission. This hereditary sideroblastic anemia is a medical condition wherein the body has enough iron but cannot integrate it into hemoglobin. In this inherited form of anemia, the red blood cells become overloaded with iron thus reduce the ability of the blood to carry oxygen. [read more]
Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels needed for normal function of the organism. Biologic effects of low carnitine levels may not be clinically significant until they reach less than 10-20% of the norm. [read more]
This disease is a slowly developing anemia of early childhood, which is characterized by a gradual onset of pallor. It is also known as TEC. The disease means new red blood cells are temporarily not produced. [read more]
Gestational trophoblastic disease or also known as Trophoblastic neoplasms is a quick growing form of cancer that occurs in a woman's uterus after a pregnancy, miscarriage, or abortion. The disease is usually metastatic, which means it spreads to other places in the body. It is also known as choriocarcinoma. [read more]
Also known as Gestational trophoblastic disease or Trophoblastic neoplasms a Trophoblastic tumor is a quick growing form of cancer that occurs in a woman's uterus after a pregnancy, miscarriage, or abortion. The disease is usually metastasizes and spreads to other places in the body. It's other name is choriocarcinoma. [read more]
Very long-chain acyl-coenzyme A dehydrogenase deficiency or VLCAD for brevity is a disorder of the fatty acid oxidation disorder that hinders the normal conversion of certain fats to energy by the body especially during period without food intake. [read more]
Von Hippel-Lindau disease or VHL for brevity is a rare genetic condition which usually involves the unusual and abnormal growth of tumors in different parts of the body which is usually rich in blood supply. [read more]
Wilms' tumor otherwise known as the nephroblastoma, is a tumor which often leads to cancer of the kidneys that more frequently occurs in children. It is frequently detected to children between the ages of two and three and often manifests as a lump in the abdomen. [read more]