|
Hypophosphatasia
Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's syndrome; sometimes abbreviated HPP) is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 388 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms. The prevalence of hypophosphatasia is not known; one s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALPL
Alkaline phosphatase, tissue-nonspecific isozyme (TNAP) is an enzyme that in humans is encoded by the ''ALPL'' gene. Function There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue-nonspecific). The first three are located together on chromosome 2, whereas the tissue-nonspecific form is located on chromosome 1. The product of this gene is a membrane-bound glycosylated enzyme that is expressed in a variety of tissues and is, therefore, referred to as the tissue-nonspecific form of the enzyme. A proposed function of this form of the enzyme is in regulating matrix mineralization through its ability to degrade mineralization-inhibiting pyrophosphate. Mice that lack a functional form of this enzyme (gene knockout mice) show abnormal skeletal and dental development including a mineralization deficiency called osteomalacia/odontomalacia (hypomineralization of bones and teeth). Humans with inactivating m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rickets
Rickets, scientific nomenclature: rachitis (from Greek , meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone Deformity, deformities, bone pseudofractures and Bone fracture, fractures, muscle spasms, or an scoliosis, abnormally curved spine. The analogous condition in adults is osteomalacia. The most common cause of rickets is a hypovitaminosis D, vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asfotase Alfa
Asfotase alfa, sold under the brand name Strensiq, is a medication used in the treatment of people with perinatal/infantile- and juvenile-onset hypophosphatasia. U.S. Patent 7,763,712 The most common side effects include injection site reactions, hypersensitivity reactions (such as difficulty breathing, nausea, dizziness and fever), lipodystrophy (a loss of fat tissue resulting in an indentation in the skin or a thickening of fat tissue resulting in a lump under the skin) at the injection site, and ectopic calcifications of the eyes and kidney. The enzyme tissue non-specific |
Alkaline Phosphatase
The enzyme alkaline phosphatase (ALP, alkaline phenyl phosphatase, also abbreviated PhoA) is a phosphatase with the physiological role of dephosphorylating compounds. The enzyme is found across a multitude of organisms, prokaryotes and eukaryotes alike, with the same general function, but in different structural forms suitable to the environment they function in. Alkaline phosphatase is found in the periplasmic space of '' E. coli'' bacteria. This enzyme is heat stable and has its maximum activity at high pH. In humans, it is found in many forms depending on its origin within the body – it plays an integral role in metabolism within the liver and development within the skeleton. Due to its widespread prevalence in these areas, its concentration in the bloodstream is used by diagnosticians as a biomarker in helping determine diagnoses such as hepatitis or osteomalacia. The level of alkaline phosphatase in the blood is checked through the ALP test, which is often par ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplastic
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a Tissue (biology), tissue or Organ (biology), organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of hyperplasia (too many cells). Hypoplasia is a congenital condition, while hyperpla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonates
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to Juvenile (organism), juveniles of other organisms. A newborn is, in colloquial use, a baby who is only hours, days, or weeks old; while in medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after Human birth, birth (the term applies to Preterm birth, premature, Pregnancy#Term, full term, and Postterm pregnancy, postmature infants). Infants born prior to 37 weeks of gestation are called "premature", those born between 39 and 40 weeks are "full term", those born through 41 weeks are "late term", and anything beyond 42 weeks is considered "post term". Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, defini ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stillbirth
Stillbirth is typically defined as fetus, fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without vital signs, signs of life. A stillbirth can often result in the feeling of guilt (emotion), guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and sudden infant death syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health syste ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calvarium
The calvaria is the top part of the skull. It is the superior part of the neurocranium and covers the cranial cavity containing the brain. It forms the main component of the skull roof. The calvaria is made up of the superior portions of the frontal bone, occipital bone, and parietal bones. In the human skull, the sutures between the bones normally remain flexible during the first few years of postnatal development, and fontanelles are palpable. Premature complete ossification of these sutures is called craniosynostosis. In Latin, the word ''calvaria'' is used as a feminine noun with plural ''calvariae''; however, many medical texts incorrectly list the word as ''calvarium'', a neuter Latin noun with plural ''calvaria''. Structure The outer surface of the skull possesses a number of landmarks. The point at which the frontal bone and the two parietal bones meet is known as the bregma. The point at which the two parietal bones and the occipital bone meet is known as the lamb ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibromyalgia
Fibromyalgia (FM) is a functional somatic syndrome with symptoms of widespread chronic pain, accompanied by fatigue, sleep disturbance including awakening unrefreshed, and Cognitive deficit, cognitive symptoms. Other symptoms can include headaches, Abdominal pain, lower abdominal pain or cramps, and Depression (mood), depression. People with fibromyalgia can also experience insomnia and extreme sensitivity. The causes of fibromyalgia are unknown, with several pathophysiologies proposed. People with fibromyalgia are sometimes accused of imagining their symptoms. Fibromyalgia was first recognised in the 1950s, and defined in 1990, with updated criteria in 2011, 2016, and 2019. Fibromyalgia is estimated to affect 2 to 4% of the population. Women are affected more than men. Rates appear similar across areas of the world and among varied cultures. Symptoms of fibromyalgia are persistent in most patients. The treatment of fibromyalgia is Symptomatic treatment, symptomatic an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pathognomonic
Pathognomonic (synonym ''pathognomic'') is a term, often used in medicine, that means "characteristic for a particular disease". A pathognomonic sign is a particular sign whose presence means that a particular disease is present beyond any doubt. The absence of a pathognomonic sign does not rule out the disease. Labelling a sign or symptom "pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom. The word is an adjective of Greek origin derived from πάθος ''pathos'' 'disease' and γνώμων ''gnomon'' 'indicator' (from γιγνώσκω ''gignosko'' 'I know, I recognize'). Practical use While some findings may be classic, typical or highly suggestive in a certain condition, they may not occur ''uniquely'' in this condition and therefore may not directly imply a specific diagnosis. A pathognomonic sign or symptom has very high positive predictive value and high specificity but does not need to have high sensitivity: for example it can som ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chondrocytes
Chondrocytes (, ) are the only cells found in healthy cartilage. They produce and maintain the cartilaginous matrix, which consists mainly of collagen and proteoglycans. Although the word '' chondroblast'' is commonly used to describe an immature chondrocyte, the term is imprecise, since the progenitor of chondrocytes (which are mesenchymal stem cells) can differentiate into various cell types, including osteoblasts. Development From least- to terminally-differentiated, the chondrocytic lineage is: # Colony-forming unit-fibroblast # Mesenchymal stem cell / marrow stromal cell # Chondrocyte # Hypertrophic chondrocyte Mesenchymal (mesoderm origin) stem cells are undifferentiated, meaning they can differentiate into a variety of generative cells commonly known as osteochondrogenic (or osteogenic, chondrogenic, osteoprogenitor, etc.) cells. When referring to bone, or in this case cartilage, the originally undifferentiated mesenchymal stem cells lose their pluripotency, proliferat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoblasts
Osteoblasts (from the Greek combining forms for "bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts function in groups of connected cells. Individual cells cannot make bone. A group of organized osteoblasts together with the bone made by a unit of cells is usually called the osteon. Osteoblasts are specialized, terminally differentiated products of mesenchymal stem cells. They synthesize dense, crosslinked collagen and specialized proteins in much smaller quantities, including osteocalcin and osteopontin, which compose the organic matrix of bone. In organized groups of disconnected cells, osteoblasts produce hydroxyapatite, the bone mineral, that is deposited in a highly regulated manner, into the inorganic matrix forming a strong and dense mineralized tissue, the mineralized matrix. Hydroxyapatite-coated bone implants often perform better as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
