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Organic Acidemias
Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present. The branched-chain amino acids include isoleucine, leucine and valine. Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders. The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Signs and symptoms Cause Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organ systems. Most are inherited as autosomal recessive diseases. Diagnosis Org ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Error Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrate (biochemistry), substrates) into others (Product (chemistry), products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of Biochemical Processes, biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dehydration
In physiology, dehydration is a lack of total body water that disrupts metabolic processes. It occurs when free water loss exceeds intake, often resulting from excessive sweating, health conditions, or inadequate consumption of water. Mild dehydration can also be caused by immersion diuresis, which may increase risk of decompression sickness in divers. Most people can tolerate a 3-4% decrease in total body water without difficulty or adverse health effects. A 5-8% decrease can cause fatigue and dizziness. Loss of over 10% of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs with a 15 and 25% loss of body water.Ashcroft F, Life Without Water in Life at the Extremes. Berkeley and Los Angeles, 2000, 134-138. Mild dehydration usually resolves with oral rehydration, but severe cases may need intravenous fluids. Dehydration can cause hypernatremia (high levels of sodium ions in the blood). This is distinct from hypovolemia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vomiting
Vomiting (also known as emesis, puking and throwing up) is the forceful expulsion of the contents of one's stomach through the mouth and sometimes the nose. Vomiting can be the result of ailments like food poisoning, gastroenteritis, pregnancy, motion sickness, or hangover; or it can be an after effect of diseases such as brain tumors, elevated intracranial pressure, or overexposure to ionizing radiation. The feeling that one is about to vomit is called nausea; it often precedes, but does not always lead to vomiting. Impairment due to alcohol or anesthesia can cause inhalation of vomit. In severe cases, where dehydration develops, intravenous fluid may be required. Antiemetics are sometimes necessary to suppress nausea and vomiting. Self-induced vomiting can be a component of an eating disorder such as bulimia nervosa, and is itself now classified as an eating disorder on its own, purging disorder. Complications Aspiration Vomiting is dangerous if gastric content e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lethargy
Lethargy is a state of tiredness, sleepiness, weariness, fatigue, sluggishness, or lack of energy. It can be accompanied by depression, decreased motivation, or apathy. Lethargy can be a normal response to inadequate sleep, overexertion, overworking, stress, lack of exercise, improper nutrition, drug abuse, boredom, or a symptom of an underlying illness or disorder. It may also be a side effect of medication or caused by an interaction between medications or medication(s) and alcohol. It may also be an altered level of consciousness. When part of a normal response, lethargy often resolves with rest, adequate sleep, decreased stress, physical exercise, and good nutrition. Its symptoms, however, can last days or even months, so it can be a sign of a recent underlying illness or infection if it does not resolve normally. See also * Clinical depression * Disorders of diminished motivation * Encephalitis lethargica * Sleep apnea * Sleep deprivation * Somnolence Somnolence ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Development (biology)
Development of the human body is the process of growth to maturity. The process begins with fertilization, where an egg released from the ovary of a female is penetrated by a sperm cell from a male. The resulting zygote develops through mitosis and cell differentiation, and the resulting embryo then implants in the uterus, where the embryo continues development through a fetal stage until birth. Further growth and development continues after birth, and includes both physical and psychological development that is influenced by genetic, hormonal, environmental and other factors. This continues throughout life: through childhood and adolescence into adulthood. Before birth Development before birth, or prenatal development () is the process in which a zygote, and later an embryo, and then a fetus develops during gestation. Prenatal development starts with fertilization and the formation of the zygote, the first stage in embryonic development which continues in fetal de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Poor Feeding
Dysphagia is difficulty in swallowing. Although classified under "symptoms and signs" in ICD-10, in some contexts it is classified as a condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach, a lack of pharyngeal sensation or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia, which is defined as painful swallowing, and globus, which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction) or both together. A psychogenic dysphagia is known as phagophobia. Classification Dysphagia is classified into the following major types: # Oropharyngeal dysphagia # Esophageal and obstructive dysphagia # Neuromuscular symptom complexes # Functional dysphagia is defined in some patients as having no organic cause f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Disability
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living".Center for Disease Control and Prevention. (2013)Developmental disabilities.Retrieved October 18, 2013 Developmental disabilities can be detected early on and persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay. The most common developmental disabilities are: * Motor disorders, and learning difficulties such as dyslexia, Tourette's syndrome, dyspraxia, dysgraphia, dyscalculia, and nonverbal learning disorder. * Autism spectrum disorder (ASD, formerly the PDD umbrella covering Asperger syndrome and classic autism) causes difficulties in s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Central Nervous System
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain, spinal cord and retina. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all parts of the bodies of bilateria, bilaterally symmetric and triploblastic animals—that is, all multicellular animals except sponges and Coelenterata, diploblasts. It is a structure composed of nervous tissue positioned along the Anatomical_terms_of_location#Rostral,_cranial,_and_caudal, rostral (nose end) to caudal (tail end) axis of the body and may have an enlarged section at the rostral end which is a brain. Only arthropods, cephalopods and vertebrates have a true brain, though precursor structures exist in onychophorans, gastropods and lancelets. The rest of this article exclusively discusses the vertebrate central nervous system, which is radically distinct from all other animals. Overview In vertebrates, the brain and spinal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organ (anatomy)
In a multicellular organism, an organ is a collection of Tissue (biology), tissues joined in a structural unit to serve a common function. In the biological organization, hierarchy of life, an organ lies between Tissue (biology), tissue and an organ system. Tissues are formed from same type Cell (biology), cells to act together in a function. Tissues of different types combine to form an organ which has a specific function. The Gastrointestinal tract, intestinal wall for example is formed by epithelial tissue and smooth muscle tissue. Two or more organs working together in the execution of a specific body function form an organ system, also called a biological system or body system. An organ's tissues can be broadly categorized as parenchyma, the functional tissue, and stroma (tissue), stroma, the structural tissue with supportive, connective, or ancillary functions. For example, the gland's tissue that makes the hormones is the parenchyma, whereas the stroma includes the nerve t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prognosis
Prognosis ( Greek: πρόγνωσις "fore-knowing, foreseeing"; : prognoses) is a medical term for predicting the likelihood or expected development of a disease, including whether the signs and symptoms will improve or worsen (and how quickly) or remain stable over time; expectations of quality of life, such as the ability to carry out daily activities; the potential for complications and associated health issues; and the likelihood of survival (including life expectancy). A prognosis is made on the basis of the normal course of the diagnosed disease, the individual's physical and mental condition, the available treatments, and additional factors. A complete prognosis includes the expected duration, function, and description of the course of the disease, such as progressive decline, intermittent crisis, or sudden, unpredictable crisis. When applied to large statistical populations, prognostic estimates can be very accurate: for example the statement "45% of patients with sever ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Newborn Screening
Newborn screening (NBS) is a public health program of screening (medicine), screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie (microbiologist), Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
