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Newborn Screening Saves Lives Reauthorization Act Of 2013 (H.R. 1281; 113th Congress)
The Newborn Screening Saves Lives Reauthorization Act of 2014 () is a bill that would amend the Public Health Service Act to reauthorize grant programs and other initiatives to promote expanded screening of newborns and children for heritable disorders. The bill was introduced into the United States House of Representatives during the 113th United States Congress. A companion bill, , was introduced into the United States Senate. There is no record in this article that the proposed bill ever became US Federal statutory law. Background Newborn screening programs test for a number of different conditions using a number of different laboratorial methodologies. There is also bedside testing for hearing loss using evoked auditory potentials and congenital heart defects using pulse oximetry. Newborn screening started out using simple bacterial inhibition assays to screen for a single disorder, starting with phenylketonuria in the early 1960s. With this testing methodology, newbo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lucille Roybal-Allard
Lucille Elsa Roybal-Allard (born June 12, 1941) is an American politician serving as the U.S. representative for since 2013. A member of the Democratic Party, she first entered Congress in 1993. Her district, numbered as the 33rd until 2003 and then the 34th, includes much of southern Los Angeles, as well as several eastern suburbs, such as Downey, Bell and Bell Gardens. On December 20, 2021, Roybal-Allard announced her retirement at the end of the 117th Congress. Early life, education, and career Roybal-Allard was born in Boyle Heights, California, the daughter of Edward R. Roybal, who served in Congress from 1963 to 1993, and Lucille Beserra Roybal. She attended Ramona Convent Secondary School in Alhambra, California, graduating in 1959. She also attended California State University, Los Angeles. Roybal-Allard was a public relations officer and fund-raising executive. She was also a member of the California State Assembly from 1987 to 1992, first elected on May 12, 1987, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United States Senate
The United States Senate is the upper chamber of the United States Congress, with the House of Representatives being the lower chamber. Together they compose the national bicameral legislature of the United States. The composition and powers of the Senate are established by Article One of the United States Constitution. The Senate is composed of senators, each of whom represents a single state in its entirety. Each of the 50 states is equally represented by two senators who serve staggered terms of six years, for a total of 100 senators. The vice president of the United States serves as presiding officer and president of the Senate by virtue of that office, despite not being a senator, and has a vote only if the Senate is equally divided. In the vice president's absence, the president pro tempore, who is traditionally the senior member of the party holding a majority of seats, presides over the Senate. As the upper chamber of Congress, the Senate has several powers o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids, and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. It is one of the most common autosomal recessive disorders in humans. Types CAH can occur in various forms. The clinical presentation of each form is different and depends to a large extent on the underlying enzyme defect, its precursor retention, and deficient products. Classical forms appear in infancy, and nonclassical forms appear in late childhood. The presentation in patients with classic CAH can be further subdivided into two forms: salt-wasting and simple-virilizing, depending ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
17α-hydroxyprogesterone
17α-Hydroxyprogesterone (17α-OHP), also known as 17-OH progesterone (17-OHP), or hydroxyprogesterone (OHP), is an endogenous progestogen steroid hormone related to progesterone. It is also a chemical intermediate in the biosynthesis of many other endogenous steroids, including androgens, estrogens, glucocorticoids, and mineralocorticoids, as well as neurosteroids. Biological activity 17α-OHP is an agonist of the progesterone receptor (PR) similarly to progesterone, albeit weakly in comparison. In addition, it is an antagonist of the mineralocorticoid receptor (MR) as well as a partial agonist of the glucocorticoid receptor (GR), albeit with very low potency ( EC50 >100-fold less relative to cortisol) at the latter site, also similarly to progesterone. Biochemistry Biosynthesis 17α-OHP is derived from progesterone via 17α-hydroxylase (encoded by CYP17A1) 17α-OHP increases in the third trimester of pregnancy primarily due to fetal adrenal production. This steroid is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Hypothyroidism
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem. Significant deficiency may cause excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, significant jaundice, and low body temperature. Causes of congenital hypothyroidism include iodine deficiency and a developmental defect in the thyroid gland, either due to a genetic defect or of unknown cause. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, most of the developed world utilizes newborn screening with blood thyroid stimulating hormone (TSH) levels to detect congenital hypothyr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thyroid Hormones
File:Thyroid_system.svg, upright=1.5, The thyroid system of the thyroid hormones T3 and T4 rect 376 268 820 433 Thyroid-stimulating hormone rect 411 200 849 266 Thyrotropin-releasing hormone rect 297 168 502 200 Hypothalamus rect 66 216 386 256 Anterior pituitary gland rect 66 332 342 374 Negative feedback rect 308 436 510 475 Thyroid gland rect 256 539 563 635 Thyroid hormones rect 357 827 569 856 Catecholamine rect 399 716 591 750 Metabolism desc bottom-left Thyroid hormones are any hormones produced and released by the thyroid gland, namely triiodothyronine (T3) and thyroxine (T4). They are tyrosine-based hormones that are primarily responsible for regulation of metabolism. T3 and T4 are partially composed of iodine. A deficiency of iodine leads to decreased production of T3 and T4, enlarges the thyroid tissue and will cause the disease known as simple goitre. The major form of thyroid hormone in the blood is thyroxine (T4), whose half-life of around one week is longer th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biotinidase Deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms. Signs and symptoms Signs and symptoms of a biotinidase deficiency can appear several days after birth. These include seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly lead to coma and death. Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase def ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosemia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common (1:480 births) in the Irish Traveller population. Symptoms Adults Infants Infan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha amino acids appear in the genetic code. Amino acids can be classified according to the locations of the core structural functional groups, as Alpha and beta carbon, alpha- , beta- , gamma- or delta- amino acids; other categories relate to Chemical polarity, polarity, ionization, and side chain group type (aliphatic, Open-chain compound, acyclic, aromatic, containing hydroxyl or sulfur, etc.). In the form of proteins, amino acid '' residues'' form the second-largest component (water being the largest) of human muscles and other tissues. Beyond their role as residues in proteins, amino acids participate in a number of processes such as neurotransmitter transport and biosynthesis. It is thought that they played a key role in enabling life ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mass Spectrometry
Mass spectrometry (MS) is an analytical technique that is used to measure the mass-to-charge ratio of ions. The results are presented as a ''mass spectrum'', a plot of intensity as a function of the mass-to-charge ratio. Mass spectrometry is used in many different fields and is applied to pure samples as well as complex mixtures. A mass spectrum is a type of plot of the ion signal as a function of the mass-to-charge ratio. These spectra are used to determine the elemental or isotopic signature of a sample, the masses of particles and of molecules, and to elucidate the chemical identity or structure of molecules and other chemical compounds. In a typical MS procedure, a sample, which may be solid, liquid, or gaseous, is ionized, for example by bombarding it with a beam of electrons. This may cause some of the sample's molecules to break up into positively charged fragments or simply become positively charged without fragmenting. These ions (fragments) are then separated accordin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is due to mutations in the '' PAH'' gene, which results in low levels of the enzyme phenylalanine hydroxylase. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the disease. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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