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The body is a complex organism, and as such, it takes energy to maintain proper functioning. Adenosine triphosphate (ATP) is the source of energy for use and storage at the cellular level. The structure of ATP is a nucleoside triphosphate, consisting of a nitrogenous base (adenine), a ribose sugar, and three serially bonded phosphate groups. ATP is commonly …

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Percent strength represents the number of grams contained in 100 mL of product and is very useful in pharmacy calculations. The following units express percent based on the nature of the ingredient: Percent Weight in Volume (w/v): Is the number of grams in 100 mL of solution and is expressed as %w/v.

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043 334 9393

Telephone claims must be made to the Radio Bingo Claim Line on 043 334 9393 BEFORE 6pm on the day the numbers are called (T's & C's apply). Remember - Jackpot Day is Wednesday 5th January 2022 and the Jackpot is €5,000! Tune in Monday to Friday at 8.50am for the live draw! You can hear these numbers again at: 10.05am, 12.30pm, 2.30pm and 4.45pm.

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Vitamin B12 (cobalamin) is a water-soluble vitamin that is derived from animal products such as red meat, dairy, and eggs. Intrinsic factor is a glycoprotein that is produced by parietal cells in the stomach and necessary for the absorption of B12 in the terminal ileum. Once absorbed, B12 is used as a cofactor for enzymes that are involved in the synthesis of DNA, …

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In S. aureus, the autoinducer molecule is a peptide (AIP) derived from the product of the agrD gene. This peptide is processed to yield a cyclic peptide containing a thiolactone ring. AIP is secreted and detected by AgrC, which activates the regulator AgrA.

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HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 …

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rrnDB. A searchable database documenting variation in ribosomal RNA operons (rrn) in Bacteria and Archaea.Find information such as the 16S gene copy number of an organism by looking up its name under the NCBI or RDP taxonomy or by full-text search of rrnDB's records.. Please cite the use of rrnDB in the following way:. Stoddard S.F, Smith B.J., Hein R., Roller …

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Affected individuals can also develop trichorrhexis nodosa, a node-like appearance of fragile hair that usually responds to arginine supplementation. Affected individuals who have never had prolonged coma nevertheless have been reported to have significant developmental disabilities [ Summar 2001 , Summar & Tuchman 2001 , Nagamani et al 2012 ].

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Contact the NIHMS help desk with your queries. My NCBI and My Bibliography: Please first refer to the My Bibliography training materials and FAQ. My NCBI also maintains a help desk to assist users with manuscript submissions. Contact the My NCBI help desk with your queries. Be sure to include the full citation and eRA Commons username if needed.

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6502499090

Director: J. Dianne Keen-Kim, PhD, ABMG, FACMG, DABMG, Lab Director Phone: 6502499090 Email: [email protected] Jennifer Saucier, MS, Certified Genetic counselor, CGC

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Inheritest NGS, Comprehensive. Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version

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MaterniT GENOME. Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.

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Eye Contact Lens 39: 93–99. pmid:23266586 . View Article PubMed/NCBI Google Scholar 4. Young G, Chalmers RL, Napier L, Hunt C, Kern J (2011) Characterizing contact lens-related dryness symptoms in a cross-section of UK soft …

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The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a ca

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The Fast Track Program. Two multicomponent selective and universal prevention programs were effective. An example is the Fast Track Program, an intensive 10-year intervention that was implemented in four United States locations for children with high rates of aggression in Grade 1. The program includes universal and selective components to ...

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Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011; 88:42–56. [PMC free article: PMC3014373] [PubMed: 21194675]

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Regional association plots for signal loci on chromosomes 4, 16 and 1. At each SNP location (genomic position, NCBI Build 36) we plot the log 10 P value from combined analysis of incident and prevalent AF. Symbol colors indicate the strength of linkage disequilibrium derived from CEU HapMap build 22: strong (red, r 2 ≥0.8) moderate (orange, 0.5≤r 2 <0.8) weak (yellow, 0.20≤r 2 …

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Pulse oximetry is a non-invasive monitor that measures the oxygen saturation in the blood by shining light at specific wavelengths through tissue (most commonly the fingernail bed). Deoxygenated and oxygenated hemoglobin absorb light at different wavelengths (660 nm and 940 nm respectively), and the absorbed light is processed by a proprietary algorithm in the …

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Giardia lamblia (syn. Giardia intestinalis, Giardia duodenalis) is a flagellated unicellular eukaryotic microorganism that commonly causes diarrheal disease throughout the world.It is the most common cause of waterborne outbreaks of diarrhea in the United States and is occasionally seen as a cause of food-borne diarrhea (47a, 227).In developing countries, there is a very high …

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Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry.

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Fetal movements felt by pregnant women are a sign that the fetus is growing in size and strength. The pregnant woman is usually the first to feel these movements, which can later be perceived by others. Women are often taught by their health care provider to monitor or be aware of the movements of the fetus. This can be a general awareness of fetal movements, or the …

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The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin …

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The First IOM Definition. In 1978, the IOM published a report entitled A Manpower Policy for Primary Health Care: Report of a Study (IOM, 1978).The second chapter, which had been released a year earlier as an interim report, defined the essence of primary care as it should and could be practiced: "accessible, comprehensive, coordinated and continual care delivered by …

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The human heart is one of the most studied and vital organs to life. There are many ways to describe the status of the heart’s function and health. One measure of heart function is the cardiac index. The cardiac index relies on another important parameter, cardiac output, and turns cardiac output into a normalized value that accounts for the body size of the …

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21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals.

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Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1.

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Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with …

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In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS).

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Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ ...

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Although a universally accepted definition of the term ''school health services" has not been adopted, the School Health Policies and Programs Study (SHPPS) has described school health services as a "coordinated system that ensures a continuum of care from school to home to community health care provider and back" (Small et al., 1995). The goals and program …

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Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab. 2003; 80:437–43. [PubMed: 14654357]

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The previous chapter dealt with the roles and responsibilities of health professionals in relation to the bereaved in the broad context of health care. In this chapter, the more formal bereavement programs and approaches are discussed. Many of the techniques used by mental health professionals and experienced lay care-givers to assist the bereaved are similar to those …

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Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction …

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A very small number of newborns survive following intrauterine transfusions and repeated frequent transfusions after birth. ... [Steensma et al 2005]. Red cell indices are usually hypochromic and microcytic, in contrast to the normocytic or macrocytic indices typical of myelodysplastic syndrome. ... Phone: +357 22 319129. Fax: +357 22 314552.

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Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with …

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The number and position of AGG trinucleotide repeats are known to be important in the overall stability of the CGG repeat sequence. Recent results have linked the presence of an AGG interruption with a reduced risk of transmission to a full mutation in CGG repeat ranges below 100 [ Yrigollen et al 2012 , Yrigollen et al 2014 , Nolin et al 2015 ].

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Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on …

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Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or …

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One of the single most difficult challenges for any prescriber is to distinguish between the legitimate prescription of controlled substances versus the prescription potentially used for illegitimate purposes. To discern the difference, prescribers need to understand the signs, symptoms, and treatment of acute and chronic pain as well as the signs and symptoms …

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Metz G, Coppard N, Cooper JM, Delatycki MB, Dürr A, Di Prospero NA, Giunti P, Lynch DR, Schulz JB, Rummey C, Meier T. Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database. Brain. 2013; 136:259–268. [PMC free article: PMC3624678] [PubMed: 23365101]

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Introduction. Burn injuries are an under-appreciated trauma that can affect anyone, anytime and anywhere. The injuries can be caused by friction, cold, heat, radiation, chemical or electric sources, but the majority of burn injuries are caused by heat from hot liquids, solids or fire 1.Although all burn injuries involve tissue destruction due to energy transfer, different causes …

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The ocular manifestations may be more severe in black individuals [Dollfus et al 2003, Ramkumar et al 2011, Brooks et al 2013]. Neurologic. ... Review of the world literature has revealed a substantial number of people with XP who have oral cavity neoplasms, ... Phone: +44 (0) 1494 456192; +44 (0) 1494 459888.

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Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010; 154C:220–8. [PMC free article: PMC2946898] [PubMed: 20425783]

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SRA - Now available on the cloud. Sequence Read Archive (SRA) data, available through multiple cloud providers and NCBI servers, is the largest publicly available repository of high throughput sequencing data. The archive accepts data from all branches of life as well as metagenomic and environmental surveys.

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Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems.

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In the My Bibliography banner, check the citation compliance status bar for immediate feedback on the number of your publications that are non-compliant, not defined, in process, or complete. In the example below, Theodore Smith has two articles which are non-compliant, 29 not defined, two in process, and 190 articles compliant to the NIH ...

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The sub-award number will be missing in the entry for the contact PI of the main award. 6. How do I generate a PDF Compliance Report? Follow this section in the My NCBI Help guide. 7. I do not see papers I entered in My NCBI listed on my RPPR. How do I enter them on to my RPPR?

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Almost two years ago, we launched PubMed Journals, an NCBI Labs project. PubMed Journals helped people follow the latest biomedical literature by making it easier to find and follow journals, browse new articles, and included a Journal News Feed to track new arrivals news links, trending articles and important article updates. PubMed Journals was a successful …

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www.ncbi.nlm.nih.gov

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LiftOver is a necesary step to bring all genetical analysis to the same reference build. LiftOver can have three use cases: (1) Convert genome position from one genome assembly to another genome assembly In most scenarios, we have known genome positions in NCBI build 36 (UCSC hg 18) and hope to lift them over to NCBI build 37 (UCSC hg19).

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