Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid build-up, neurologic disability, and behavioral problems, including self-injury. It is a rare condition.
Abstract : Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit a characteristic pattern of neurological and behavioral features attributable in part to dysfunction of basal ganglia dopamine systems. In the current studies, striatal dopamine loss was investigated in five different HPRT-deficient strains of mice carrying one of two different HPRT gene mutations. Caudoputamen dopamine concentrations were significantly reduced in all five of the strains, with deficits ranging from 50.7 to 61.1%. Mesolimbic dopamine was significantly reduced in only three of the five strains, with a range of 31.6-38.6%. The reduction of caudoputamen dopamine was age dependent, emerging between 4 and 12 weeks of age. Tyrosine hydroxylase and aromatic amino acid decarboxylase, two enzymes responsible for the synthesis of dopamine, were reduced by 22.4-37.3 and 22.2-43.1%, respectively. These ...
... is caused by hyperuricemia (high serum levels of uric acid) due to a defective gene called the hypoxanthine guanine phosphoribosyltransferase. Patients with this syndrome are prone to have uric acid kidney stones and mental retardation. It is inherited as an X-linked recessive condition ...
Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism which results from mutation in the gene for the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT); patients have hyperuricemia, gout, urinary tract calculi, and nephropathy which are effectively treated with allopurinol. There is also a syndrome of dystonia, chorea and athetosis, as well as involuntary self mutilative biting and aggression toward their caretakers, for which there is no treatment.. Kuvan™ is a form of tetrahydrobiopterin (BH4), and is approved to help lower the blood levels of phenylalanine in people who have phenylketonuria (PKU). LND patients have been found to have decreased BH4 in the spinal fluid and brain; BH4 is a precursor of dopamine, which has an effect on behavior. In an earlier study Dr Nyhan found that treatment of LND with 5-hydroxytryptophan and carbidopa abolished the self-injurious behavior but was uniformly transient.. This is a single site open-label protocol for eight subjects ...
Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was to describe macrocytic erythrocytes as another common aspect of the phenotype. Methods: The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly. Results: Macrocytic erythrocytes occurred in 81-92% of subjects with Lesch-Nyhan disease or its neurological variants. After excluding cases with iron deficiency because it might pseudonormalize erythrocyte volumes, macrocytosis occurred in 97% of subjects. Macrocytic erythrocytes were sometimes accompanied by mild anemia, and rarely by severe anemia. Conclusion: These results establish macrocytic erythrocytes as a very common aspect of the clinical phenotype of Lesch-Nyhan disease and its neurological variants. Macrocytosis is so characteristic that its absence should prompt ...
The favorable response to therapy, after the recognition of HPRT deficiency as the basis for the urolithiasis in 2 male siblings, contrasts sharply with the unfavorable outcome in their 2 uncles already in kidney failure. This underlines the importance of early diagnosis and therapy for the prognosis of partial HPRT deficiency. Lack of awareness of this disorder in many parts of mainland Europe is attributable to the fact that inherited defects of purine metabolism are relatively new diseases, the majority being discovered during the last 25 years. HPRT deficiency seems to be one of the most common enzyme defects of nucleotide metabolism among the 27 now described. This lack of awareness explains why it took so long for the diagnosis to be made in the uncles. Moreover, the elder, now 65, would have been 32 at the time the partial defect was first described by Kelly et al5 in 1967, when presumably renal function would already have been compromised. The development of renal disease in his nephew, ...
Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 89. Keenan RT, Nowatzky J, Pillinger MH. Etiology and pathogenesis of hyperuricemia and gout. In: Firestein GS, Budd RC, Gabriel SE, Mcinnes IB, ODell JR, eds. Kelleys Textbook of Rheumatology . 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 94. Keenan RT, Nowatzky J, Pillinger MH. Etiology and pathogenesis of hyperuricemia and gout. In: Firestein GS, Budd RC, Gabriel SE, Mcinnes IB, ODell JR, eds. Kelleys Textbook of Rheumatology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 94. ...
This study will be done in approximately 6 centers in approximately 4 countries, and approximately 24 subjects will be included. This study is divided into two parts. The first is a double-blinded portion lasting up to 18 weeks in total. The second portion is an optional open-label extension and lasts up to 54 weeks total. The total duration of the study, if you choose to participate in both portions, is anticipated to be up to approximately 78 weeks.. The first portion of this study is double-blind and assignment to a treatment group is done randomly. In this study, there are two treatment groups. One group will receive Ecopipam for one 6-week period and placebo for two 6-week periods, and the other group will receive Ecopipam for two 6-week periods and placebo for one 6-week period.. Subjects who did not experience any clinically significant side effects during the blinded portion of the study may be eligible to participate in an open-label extension that may last up to 54 weeks. ...
Resource #3: Purine and Pyrimidine Metabolism Disorders. http://www.merck.com/mmpe/sec19/ch296/ch296i.html. Main Focus: Under normal conditions, nucleotides act as components of cellular energy systems, signaling, and DNA and RNA production. However, when an enzyme has a defect causing it to malfunction leading to accumulation of compounds in blood, urine, or tissues, this can result in diseased states which can severely affect people and their everyday lives. This resource discusses several disorders of nucleotide metabolism; including disorders of purine salvage, purine nucleotide synthesis, purine catabolism, and pyrimidine metabolism. Not only is the nature of several deficiencies discussed, but diagnosis as well as possible treatment and diet adjustments are mentioned. Lesch-Nyhan syndrome is a disorder of purine salvage and results from a deficiency in the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme which normally aids in salvage pathway for hypoxanthine and guanine ...
A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimers, Parkinsons and Huntingtons diseases. The findings, published in the October 9, 2013 issue of the journal PLOS ONE, provide the first experimental picture of how gene expression errors impair the ability of stem cells to produce normal neurons, resulting instead in neurological disease. More broadly, they indicate that at least some distinctly different neurodevelopmental and neurodegenerative disorders share basic, causative defects. The scientists say that understanding defects in Lesch-Nyhan could help identify errant processes in other, more common neurological disorders, perhaps pointing the way to new kinds of ...
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Lesch-Nyhan Disease (LND) is a rare X-linked recessive metabolic and neurological syndrome due to the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). Besides its well known "housekeeping" function this purine salvage enzyme has revealed an unexpected role in neurodevelopment, unveiled by the peculiar neurological symptoms flanking hyperuricemia in LND: dystonia, choreoathetosis, compulsive self-injurious behaviour. Several lines of research have tried to find the molecular basis for the neurological phenotype after the disease was first described in 1964. Dopaminergic deficit was then found to underlie the neurologic symptoms but the aetiology for such alteration seemed inexplicable. A number of detailed studies in the last 50 years addressed the genetic, metabolic, cognitive, behavioral and anatomical features of this disease. Initial investigations seeked for accumulation of toxic metabolites or depletion of essential molecules to disclose potential connections between ...
Despite a diet that may be rich in nucleoproteins, dietary purines and pyrimidines are not incorporated directly into tissue nucleic acids. Humans synthesize the nucleic acids and their derivatives ATP, NAD+, coenzyme A, etc, from amphibolic intermediates. However, injected purine or pyrimidine analogs, including potential anticancer drugs, may nevertheless be incorporated into DNA. The biosyntheses of purine and pyrimidine ribonucleotide triphosphates (NTPs) and dNTPs are precisely regulated events. Coordinated feedback mechanisms ensure their production in appropriate quantities and at times that match varying physiologic demand (eg, cell division). Human diseases that involve abnormalities in purine metabolism include gout, Lesch-Nyhan syndrome, adenosine deaminase deficiency, and purine nucleoside phosphorylase deficiency. Diseases of pyrimidine biosynthesis are rarer, but include orotic acidurias. Unlike the low solubility of uric acid formed by catabolism of purines, the end products of ...
Self-mutilating behavior is the hallmark of this disease. Children begin to bite their fingers, lips, and the insides of their mouths as early as 2 years old. As children grow, self-injury becomes increasingly compulsive and severe. Eventually, mechanical physical restraints will be necessary to prevent head and leg banging, nose gouging, loss of fingers and lips from biting, and loss of vision from eye rubbing, among others. In addition to self-injury, older children and teens will become physically and verbally aggressive.. The cause of these behaviors is not entirely understood. However, some experts believe it is related to abnormalities in brain chemicals called neurotransmitters. It should be stressed that the child does not want to hurt himself or others, but is incapable of preventing these behaviors. People with Lesch-Nyhan syndrome have been described as doing the opposite of what they really want. ...
One of the most exciting potential applications of genetic engineering involves the treatment of human genetic disorders. Medical scientists know of about 3,000 disorders that arise because of errors in an individuals DNA. Conditions such as sickle-cell anemia, Tay-Sachs disease, Duchenne muscular dystrophy, Huntingtons chorea, cystic fibrosis, and Lesch-Nyhan syndrome result from the loss, mistaken insertion, or change of a single nitrogen base in a DNA molecule. Genetic engineering enables scientists to provide individuals lacking a particular gene with correct copies of that gene. If and when the correct gene begins functioning, the genetic disorder may be cured. This procedure is known as human gene therapy (HGT). The first approved trials of HGT with human patients began in the 1980s. One of the most promising sets of experiments involved a condition known as severe combined immune deficiency (SCID). Individuals with SCID have no immune systems. Exposure to microorganisms that would be ...
The auto-aggressive behavior that characterizes the Lesch-Nyhan syndrome1 is unique among behavioral abnormalities in that the genetic and molecular basis of the disorder has been firmly established.2...
... : You have been studying HD and its genetics for nearly 20 years. Can you tell us how you got into the field?. DAVIDSON: I recently woke up in the middle of the night thinking, "It has been 12 years since the publication of our knockdown studies."1 I had no idea that it would take us this long to get to the clinic. How did I originally get into HD? I first started working in inborn errors of metabolism that affect the CNS. As a graduate student, I worked on Lesch-Nyhan syndrome. It always fascinated me how seemingly ambiguous mutations would induce such profound changes in the brain. I became fascinated by learning how mutations induce neuropathology, and developing ways to mitigate that neuropathology. I started early on in gene replacement strategies, always thinking in the back of my mind how we could apply some of the things we learn about getting genes into cells, and use this in some of the dominant neurodegenerative disorders.. We started working on RNA interference (RNAi) ...
In his paper on the effects of Prenatal Genetic Intervention (PGI) on personal identity, Noam Zohar comes to a conclusion about genetic makeup and the uses of gene therapy quite different from the one I reach in another piece in this issue. Zohars argument rests on the contention that personal identity changes with alteration of the genome, following what I have identified as the "constitutive" view. To see that this is the pillar supporting the weight of his argument, consider the following. Questions of identity aside, how can it be that altering the genome of children suffering from Lesch-Nyhan syndrome or Tay-Sachs disease so that they now produce the enzyme that they formerly lacked does not benefit them? Clearly, if their identities were not changed, such individuals would in fact realize great benefit from PGI, since the devastating bad effects of the genetic flaw would be avoided. Such a change would certainly make the altered individuals better off, that is, it would benefit them. On ...
Solids are "leftovers" that are not usable by the body. Fiber, twigs, batteries, the occasional coin, along with cellulose, a sugar that plants use but we cannot digest. Corn, of course. Supposedly it take 24 hours for food to travel from stomach to toilet. Seems like it only takes three hours for me to shat the corn, but maybe thats just me. Our excreta takes on interesting colors. Mainly "Shit" brown- ever mixed all the paints together? What do you get? Thats right- shit brown. Occasionally, stool can be green, orangey, red, or even blue, depending on how much spinach, carrots, beets, or blue cotton candy youve had, respectively. We also can excrete some compounds in solid form in our urine. Urea is the stuff in urine that makes it yellow or orange. Lesch-Nyhan Disease is often detected when toddlers have urea crystals in their diapers. A quick and dirty test for Cystic Fibrosis is to get your child sweaty and lick him/her. If the sweat is really salty, get checked. ...
A hipoxantina, principal oxipurina envolvida na via de salvação das purinas no cérebro, acumula-se na doença de Lesch-Nyhan, um erro inato do metabolismo das purinas. Os sintomas clínicos manifestam-se precocemente na vida dos pacientes, incluindo alterações motoras e cognitivas, retardo mental e automutilação. Embora os mecanismos subjacentes da disfunção cerebral na doença de Lesch-Nyhan sejam pouco compreendidos, o acúmulo de hipoxantina parece contribuir para os danos neurológicos. O objetivo deste estudo foi investigar os efeitos da administração intraestriatal de hipoxantina em ratos infantis e adultos jovens submetidos à cirurgia estereotáxica. Neste estudo, analisamos primeiramente o efeito da hipoxantina sobre os parâmetros neuroinflamatórios e oxidativos em estriados de ratos infantis e adultos jovens. Foram avaliados também alguns parâmetros neuroenergéticos. Ratos Wistar de 21 e 60 dias de vida foram submetidos à cirurgia estereotáxica e foram divididos em ...
Diagnosis of complete deficiency of C2 Lennart ruedsson MD/PhD, Section of Microbiology, Immunology and Glycobiology Dept of Laboratory Medicine, Lund University, Lund, he patient was a 14-year-old girl
Deoxyribose 1-phosphate belongs to the class of organic compounds known as pentoses. These are monosaccharides in which the carbohydrate moiety contains five carbon atoms. Deoxyribose 1-phosphate is an extremely weak basic (essentially neutral) compound (based on its pKa). Deoxyribose 1-phosphate exists in all living species, ranging from bacteria to humans. Within humans, deoxyribose 1-phosphate participates in a number of enzymatic reactions. In particular, guanine and deoxyribose 1-phosphate can be biosynthesized from deoxyguanosine; which is catalyzed by the enzyme purine nucleoside phosphorylase. In addition, hypoxanthine and deoxyribose 1-phosphate can be biosynthesized from deoxyinosine through its interaction with the enzyme purine nucleoside phosphorylase. In humans, deoxyribose 1-phosphate is involved in the metabolic disorder called the lesch-nyhan syndrome (lns) pathway ...
Background The Plasmodium purine salvage enzyme, hypoxanthine guanine xanthine phosphoribosyl transferase (HGXPRT) can protect mice against Plasmodium yoelii pRBC challenge in a T cell-dependent manner and has, therefore, been proposed as a novel vaccine candidate. It is not known whether natural exposure to Plasmodium falciparum stimulates HGXPRT T cell reactivity in humans. Methods PBMC and plasma collected from malaria-exposed Indonesians during infection and 7-28 days after anti-malarial therapy, were assessed for HGXPRT recognition using CFSE proliferation, IFN? ELISPOT assay and ELISA. Results HGXPRT-specific T cell proliferation was found in 44% of patients during acute infection; in 80% of responders both CD4+ and CD8+ T cell subsets proliferated. Antigen-specific T cell proliferation was largely lost within 28 days of parasite clearance. HGXPRT-specific IFN-? production was more frequent 28 days after treatment than during acute infection. HGXPRT-specific plasma IgG was undetectable ...
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Obsolete - 5HHU: Plasmodium vivax hypoxanthine-guanine phosphoribosyltransferase in complex with [3R,4R]-4-guanin-9-yl-3-((S)-2-hydroxy-2-phosphonoethyl)oxy-1-N-(phosphonopropionyl)pyrrolidine
6-Fluoro-3-hydroxy-2-pyrazinecarboxamide (T-705) is a novel antiviral compound with broad activity against influenza virus and diverse RNA viruses. Its active metabolite, T-705-ribose-5′-triphosphate (T-705-RTP), is recognized by influenza virus RNA polymerase as a substrate competing with GTP, giving inhibition of viral RNA synthesis and lethal virus mutagenesis. Which enzymes perform the activation of T-705 is unknown. We here demonstrate that human hypoxanthine guanine phosphoribosyltransferase (HGPRT) converts T-705 into its ribose-5′-monophosphate (RMP) prior to formation of T-705-RTP. The anti-influenza virus activity of T-705 and T-1105 (3-hydroxy-2-pyrazinamide; the analogue lacking the 6-fluoro atom) was lost in HGPRT-deficient MDCK cells. This HGPRT dependency was confirmed in human HEK293T cells undergoing HGPRT-specific gene knockdown followed by influenza virus ribonucleoprotein reconstitution. Knockdown for adenine phosphoribosyltransferase (APRT) or nicotinamide ...
Our lab studies hypoxanthine guanine phosphoribosyltransferase and adenylosuccinate synthetase, enzymes involved in purine salvage in the malarial parasite, Plasmodium falciparum. We have also been studying enzymes involved in hemoglobin degradation and glycolysis. Enzymes of these essential pathways are of interest as targets for antimalarial chemotherapy. Protein engineering/ mutagenesis, spectroscopy and X- Ray crystallographic techniques are used to probe the structure, function and dynamics of these enzymes. Other aspects studied include substrate specificity,catalytic and kinetic mechanisms, and protein stability. Insights from these studies would aid the development of new antimalarials.. ...
This assay is used to detect mutations of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in Chinese hamster ovary (CHO) or lung (V79) fibroblasts.
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
A mental disorder characterized by arrested or incomplete mental development, with onset before age 18, leading to significantly below-average intellectual functioning (specifically, IQ below 70), accompanied by deficits in adaptive functioning in such areas as interpersonal communication, self-care, home living, social skills, use of public amenities, self-direction, scholastic or academic performance, work, leisure, health, or safety. According to the World Health Organization, an IQ between 50 and 70 is approximately indicative of mild mental retardation, 35-50 moderate mental retardation, 20-35 severe mental retardation, and below 20 profound mental retardation. See cerebral gigantism, cerebral palsy, cretinism, cri du chat, Downs syndrome, foetal alcohol syndrome, fragile X syndrome, Hurlers syndrome, idiot savant, Klinefelters syndrome, Lesch-Nyhan syndrome, macrocephaly, microcephaly, mild mental retardation, moderate mental retardation, phenylketonuria, profound mental retardation, ...
TY - JOUR. T1 - Combined preconditioning and in vivo chemoselection with 6-thioguanine alone achieves highly efficient reconstitution of normal hematopoiesis with HPRT-deficient bone marrow. AU - Hacke, Katrin. AU - Szakmary, Akos. AU - Cuddihy, Andrew R.. AU - Rozengurt, Nora. AU - Lemp, Nathan A.. AU - Aubrecht, Jiri. AU - Lawson, Gregory W.. AU - Rao, Nagesh P.. AU - Crooks, Gay M.. AU - Schiestl, Robert H.. AU - Kasahara, Noriyuki. PY - 2012/1. Y1 - 2012/1. N2 - Purine analogs such as 6-thioguanine (6TG) cause myelotoxicity upon conversion into nucleotides by hypoxanthine-guanine phosphoribosyltransferase (HPRT). Here we have developed a novel and highly efficient strategy employing 6TG as a single agent for both conditioning and in vivo chemoselection of HPRT-deficient hematopoietic stem cells. The dose-response and time course of 6TG myelotoxicity were first compared in HPRT wild-type mice and HPRT-deficient transgenic mice. Dosage and schedule parameters were optimized to employ 6TG for ...
The selection of T cell clones with mutations in the hypoxanthine guanine phosphoribosyltransferase (hprt) gene has been used to isolate T cells reactive to myelin basic protein (MBP) in patients with multiple sclerosis (MS). These T cell clones are activated in vivo, and are not found in healthy individuals. The third complementarity determining regions (CDR3) of the T cell receptor (TCR) alpha and beta chains are the putative contact sites for peptide fragments of MBP bound in the groove of the HLA molecule. The TCR V gene usage and CDR3s of these MBP-reactive hprt- T cell clones are homologous to TCRs from other T cells relevant to MS, including T cells causing experimental allergic encephalomyelitis (EAE) and T cells found in brain lesions and in the cerebrospinal fluid (CSF) of MS patients. In vivo activated MBP-reactive T cells in MS patients may be critical in the pathogenesis of MS ...
Self-mutilation. By Katie Katzell. What it is. Self-mutilation is a complex group of behaviors, causing damage of your own tissue. . There are three visible categories based on the amount of harm, rate and pattern of behavior . . Major. Slideshow 2664526 by tobit
Im great so they must be. ...Find answers to the question, Whats Your Opinion On Anyone Who Does Self-mutilation And Has OCD? :( from people who know at Ask Experience.
Looking for the definition of HGPRT? Find out what is the full meaning of HGPRT on Abbreviations.com! Hypoxanthin guanine phosphoribosyl tranferase is one option -- get in to view more @ The Webs largest and most authoritative acronyms and abbreviations resource.
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Well last night I had menstrual like cramps all night but not bad enough to be like Im going to LnD well I went to work and was still having pain in my back and lower stomach so my supervisor told me to go to hospital. So Im here and they did test on me and one of my test came back positive for early labor within the next 2 weeks... they told me I have to stay so they can watch me the the baby. They gave me a steroid shot just in case I deliver him early and im on antibiotics with a IV and fluids. I am contracting I feel them in my back mostly and let me tell you girls its no fun In here. My butt hurts from this hard ass bed..i hope the contractions stop and they send me home tomorrow. Im only 31 weeks along....He better stay cooking !
If you know the LND part number, you can go directly to the specification sheet by selecting from the List Box below. Part numbers are listed numerically. ...
Mutation induction at the hypoxanthine-guanine phosphoribosyl transferase (hprt) locus has been studied in three human bladder tumour cell lines of varying radiosensitivity. U1-S40b, a radiosensitive mutant clone of MGH-U1, has been previously reported to show no difference in split-dose recovery or low dose-rate sparing, but to have an impaired repair fidelity when compared to its parent line. In this paper we have shown that U1-S40b is less mutable at the hprt locus at a similar level of survival. This may represent an increased incidence of severe or non-repairable lesions, making hprt- mutants poorly recoverable in U1-S40b when compared to MGH-U1. No difference was seen in mutation induction between MGH-U1 and RT112, another human bladder tumour cell line of similar radiosensitivity to MGH-U1.. ...
Self-mutilation is not a new trend or phenomenon in adolescents. Self-mutilation can be divided into three categories: major, stereotypic, and moderate/superficial. Moderate/superficial self-mutilation is the most common type in adolescents and includes cutting, burning, and carving. School nurses are positioned to identify, to assist, and to educate adolescents who are self-mutilating, as well as those who may be at risk. A crucial intervention by school nurses is referral of students who are self-mutilating, because it is a gateway to treatment. Treatment, which includes therapy and medication, may be a difficult and lengthy process. The adolescent who self-mutilates may find the school environment difficult during treatment. School nurses must become educated about adolescent self-mutilation in order to care for those who engage in this behavior. Prevention of self-mutilation should focus on increasing coping mechanisms, facilitating decision-making strategies, encouraging positive ...
Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269,PubMed:11243733, ECO:0000269,PubMed:1353080, ECO:0000269,PubMed:15571218, ECO:0000269,PubMed:1746557, ECO:0000269,PubMed:21635362, ECO:0000269,PubMed:3343350, ECO:0000269,PubMed:3680503, ECO:0000269,PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Edema & Jaundice & Sloping Shoulders Symptom Checker: Possible causes include Orotate Phosphoribosyltransferase Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
... , self-injury or non-suicidal self-harm is the act of deliberate, repetitive, impulsive, non-lethal harming of ones body.
Im 15 years old (almost 16) and have self harmed for almost two years, my method being cutting. Im now getting help for my issues and am trying to get on the road to recovery. But I have the most awful scars all over my thighs and hips. My family and close friends are aware of whats happening, but I dont know how comfortable Id be with telling a partner.... ...
Nullo (The Pleasure of Self-mutilation) 11 songs lyrics: Breaking Hymens, Killing After Death, Maggotfilled, Voracious Backpacker, Nullo (The Pleasure Of Self-Mutilation), Nazino (Cannibal Hell), Fair Flesh Obsession, Penectomia, Infernal Haemorrhoids (Pt. 2), Chestblood, Shes Hot Tonight (In My Oven)
The measurement of the activity of the X-linked enzyme HPRT has been widely used as an indicator of X-chromosome activity during preimplantation development in the mouse. More recently, the concomitant measurement of the activity of the autosomally-encoded enzyme APRT has been used in an attempt to decrease the variability inherent in the measurement of enzyme activity from minute samples such as preimplantation embryos. In this study the use of the HPRT-deficient mouse mutant, Hprtb-m3, allowed the unequivocal identification of the parental origin of HPRT activity measured in embryos derived from crosses between wild-type mice, and mice which were homozygous or hemizygous for the Hprtb-m3 allele. Results were similar to those of a previous study, where oocyte-encoded HPRT activity accounted for about 10% of total HPRT activity at 76 hours post human chorionic gonadotrophin injection and the paternally-derived Hprt allele was shown to be transcriptionally active by the late 2-cell stage. In ...
human lymphoblast culture - posted in General Lab Techniques: Hi; I am new to research world and would like to learn more about human lymphoblasts culture techniques, and general rules used in tissue culture. Can someone direct me to good book / articles from where to start? I found many books, but I do not know where to start - I have bachelor in biology and psychology and currently taking some graduate classes but not directly related to research and I just have a chance to work in a l...
Expression of HPRT1 (HGPRT, HPRT) in cerebral cortex tissue. Antibody staining with HPA006360 and CAB012200 in immunohistochemistry.
THE POLITICAL self-mutilation of Joan Pratt has been astonishing, stalling the newly elected city comptrollers meteoric rise. Which is just as well. At least this way she is unlikely to become the