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Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
Paloma Triana, Mariela Dore, Martha Muñoz Romo, Javier Jimenez Gomez, Alba Sánchez Galán, Francisco Hernandez, Ane M Andres Moreno, Jose Luis Encinas, Leopoldo Martinez, Manuel Lopez Santamaria
Aim Hepatocellular carcinoma (HCC), although being infrequent, is the second-most common primary hepatic malignancy in children, after hepatoblastoma (HB). The prognosis is very poor. We present our series of children with HCC referred to our transplant unit to be assessed as candidates for liver transplantation (LT). Methods A retrospective review of HCCs referred to our transplant unit in the past 20 years (1994-2015) was performed. Age at diagnosis, disease-free survival, location of recurrence, initial treatment, secondary treatment, and mortality were noted...
October 10, 2016: European Journal of Pediatric Surgery
(no author information available yet)
No abstract text is available yet for this article.
October 10, 2016: Medical Letter on Drugs and Therapeutics
Songul Gokay, Pembe Soylu Ustkoyuncu, Fatih Kardas, Mustafa Kendirci
BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment. METHODS: A retrospective study was carried out with seven HT1 patients...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Isabelle Becher, Thilo Werner, Carola Doce, Esther A Zaal, Ina Tögel, Crystal A Khan, Anne Rueger, Marcel Muelbaier, Elsa Salzer, Celia R Berkers, Paul F Fitzpatrick, Marcus Bantscheff, Mikhail M Savitski
We describe a two-dimensional thermal proteome profiling strategy that can be combined with an orthogonal chemoproteomics approach to enable comprehensive target profiling of the marketed histone deacetylase inhibitor panobinostat. The N-hydroxycinnamide moiety is identified as critical for potent and tetrahydrobiopterin-competitive inhibition of phenylalanine hydroxylase leading to increases in phenylalanine and decreases in tyrosine levels. These findings provide a rationale for adverse clinical observations and suggest repurposing of the drug for treatment of tyrosinemia...
September 26, 2016: Nature Chemical Biology
Ludi Zhang, Yanjiao Shao, Lu Li, Feng Tian, Jin Cen, Xiaotao Chen, Dan Hu, Yan Zhou, Weifen Xie, Yunwen Zheng, Yuan Ji, Mingyao Liu, Dali Li, Lijian Hui
Hereditary tyrosinemia type I (HT1) is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (Fah). Fah-deficient mice and pigs are phenotypically analogous to human HT1, but do not recapitulate all the chronic features of the human disorder, especially liver fibrosis and cirrhosis. Rats as an important model organism for biomedical research have many advantages over other animal models. Genome engineering in rats is limited till the availability of new gene editing technologies. Using the recently developed CRISPR/Cas9 technique, we generated Fah(-/-) rats...
2016: Scientific Reports
Nadezda R Maksimova, Elizaveta E Gurinova, Aitalina L Sukhomyasova, Anastasia L Danilova, Vladimir S Kaimonov, Mira T Savvina, Aleksandra E Yakovleva, Elena I Alekseeva
INTRODUCTION: Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective . AIM: We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one. MATERIAL AND METHODS: The material for the clinical study is based on the genetic data of the patient card with tyrosinemia type 1, which is observed in the medical-genetic consultations Republican Hospital №1-National Medical Center of the Republic of Sakha (Yakutia)...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Marcos Sterkel, Hugo D Perdomo, Melina G Guizzo, Ana Beatriz F Barletta, Rodrigo D Nunes, Felipe A Dias, Marcos H F Sorgine, Pedro L Oliveira
Blood-feeding arthropods are vectors of infectious diseases such as dengue, Zika, Chagas disease, and malaria [1], and vector control is essential to limiting disease spread. Because these arthropods ingest very large amounts of blood, a protein-rich meal, huge amounts of amino acids are produced during digestion. Previous work on Rhodnius prolixus, a vector of Chagas disease, showed that, among all amino acids, only tyrosine degradation enzymes were overexpressed in the midgut compared to other tissues [2]...
August 22, 2016: Current Biology: CB
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, Faysal Elgilani, Bruce Amiot, Harvey Chen, Piero Rinaldo, Ronald Marler, Huailei Jiang, Timothy R DeGrado, Lukkana Suksanpaisan, Michael K O'Connor, Brittany L Freeman, Samar H Ibrahim, Kah Whye Peng, Cary O Harding, Chak-Sum Ho, Markus Grompe, Yasuhiro Ikeda, Joseph B Lillegard, Stephen J Russell, Scott L Nyberg
We tested the hypothesis that ex vivo hepatocyte gene therapy can correct the metabolic disorder in fumarylacetoacetate hydrolase-deficient (Fah(-/-)) pigs, a large animal model of hereditary tyrosinemia type 1 (HT1). Recipient Fah(-/-) pigs underwent partial liver resection and hepatocyte isolation by collagenase digestion. Hepatocytes were transduced with one or both of the lentiviral vectors expressing the therapeutic Fah and the reporter sodium-iodide symporter (Nis) genes under control of the thyroxine-binding globulin promoter...
July 27, 2016: Science Translational Medicine
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, Nasra H Giama, Daniel L Kraft, Andrew J Bordner, Roongruedee Chaiteerakij, Jennifer B McCormick, Maja Radulovic, Rondell P Graham, Michael S Torbenson, Silvia Tortorelli, C Ronald Scott, Noralane M Lindor, Dawn S Milliner, Devin Oglesbee, Wafa'a Al-Qabandi, Markus Grompe, Dimitar K Gavrilov, Mounif El-Youssef, Karl J Clark, Paldeep S Atwal, Lewis R Roberts, Eric W Klee, Stephen C Ekker
Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 is characterized by the production of a pathognomonic metabolite, succinylacetone (SUAC) and is included in the Recommended Uniform Screening Panel for newborns. Treatment intervention is effective if initiated within the first month of life...
October 2016: Human Mutation
Seema Alam, Bikrant Bihari Lal
CONTEXT: Suspecting metabolic liver disease in an infant or young child with acute liver failure, and a protocol-based workup for diagnosis is the need of the hour. EVIDENCE ACQUISITION: Data over the last 15 years was searched through Pubmed using the keywords Metabolic liver disease and Acute liver failure with emphasis on Indian perspective. Those published in English language where full text was retrievable were included for this review. RESULTS: Metabolic liver diseases account for 13-43% cases of acute liver failure in infants and young children...
August 8, 2016: Indian Pediatrics
Kumar Palaniappan, Vibhor V Borkar, Mohamed Safwan, Mukul Vij, Sanjay Govil, Naresh Shanmugam, Mohamed Rela
HCC is the second most common malignant liver tumor of childhood. It typically affects children with a median age of 10-14 yr on background hepatitis B-related liver disease and is often metastatic or locally advanced at diagnosis. Children below the age of five yr typically constitute <10% of all children with HCC. In these children, it occurs on a background of congenital or metabolic liver disease. The records of all children with HCC who presented to our department over a six-yr study period were reviewed...
July 8, 2016: Pediatric Transplantation
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M L W Körver-Keularts, Philippe J Goyens, Patrick J McKiernan, Francjan J van Spronsen
BACKGROUND: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems. However, the neuropsychological profile of these patients is unknown...
2016: Orphanet Journal of Rare Diseases
Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Fatih Kardaş, Neslihan Önenli Mungan
BACKGROUND: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. CASE REPORT: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis...
May 2016: Balkan Medical Journal
Songul Gokay, Mustafa Kendirci, Pembe Soylu Ustkoyuncu, Fatih Kardas, Ayse Kacar Bayram, Hüseyin Per, Hatice Gamze Poyrazoğlu
BACKGROUND: Tyrosinemia type II is a rare autosomal recessive disorder caused by the deficiency of tyrosine aminotransferase (TAT). It may occur with symptoms of ocular and cutaneous whether with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report clinical, biochemical and genetic features of a four-year-old boy who presented with afebrile seizure and photophobia. METHODS: Genomic DNAs were obtained from peripheral blood leukocytes from the whole family...
June 10, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Francesca Angileri, Geneviève Morrow, Jean-Yves Scoazec, Nicolas Gadot, Vincent Roy, Suli Huang, Tangchun Wu, Robert M Tanguay
Hereditary tyrosinemia type 1 (HT1) is a severe inborn error of metabolism, impacting the tyrosine catabolic pathway with a high incidence of hepatocellular carcinoma (HCC). Using a HT1 murine model, we investigated the changes in profiles of circulating and hepatic miRNAs. The aim was to determine if plasma miRNAs could be used as non-invasive markers of liver damage in HT1 progression. Plasma and liver miRNAome was determined by deep sequencing after HT1 phenotype was induced. Sequencing analysis revealed deregulation of several miRNAs including let-7/miR-98 family, miR-21 and miR-148a, during manifestation of liver pathology...
2016: Scientific Reports
Megan A Hillgartner, Sarah B Coker, Ashton E Koenig, Marissa E Moore, Elizabeth Barnby, Gordon G MacGregor
Tyrosinemia type I is a recessive inborn error of metabolism caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, coding for the final enzyme in the metabolism of tyrosine. This renders FAH nonfunctional and without treatment, toxic metabolites accumulate causing liver and kidney damage. Introduction of the drug NTBC in 2002 offered a treatment which inhibits an upstream enzyme, preventing the production of the toxic metabolites. There is now a long-term survival rate of greater than 90 % in children, but there are reports of lower cognitive function and IQ as well as schooling and behavioral problems in these children...
September 2016: Journal of Inherited Metabolic Disease
Neslihan Önenli Mungan, Dinçer Yıldızdaş, Deniz Kör, Özden Özgür Horoz, Faruk İncecik, Murat Öktem, Johannes Sander
Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione treatment the prognosis improved with reduced rate of complications. "Neurologic crisis" of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm...
October 2016: Metabolic Brain Disease
Ira Shah, Forum Shah
We present four children with tyrosinemia and their response to NTBC [2-[2-nitro-4-trifluoromethylbenzoyl]-1, 3-cyclohexanedione]. One child received NTBC for only 3 months after which he was diagnosed to have hepatocellular carcinoma and underwent a living-related liver transplantation. The child is doing well post-transplant. Remaining three children have been on NTBC for almost 3 years, have normal liver functions, undetectable urine succinylacetone, and no portal hypertension or renal tubular acidosis...
May 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Lia R Edmunds, P Anthony Otero, Lokendra Sharma, Sonia D'Souza, James M Dolezal, Sherin David, Jie Lu, Lauren Lamm, Mahesh Basantani, Pili Zhang, Ian J Sipula, Lucy Li, Xuemei Zeng, Ying Ding, Fei Ding, Megan E Beck, Jerry Vockley, Satdarshan P S Monga, Erin E Kershaw, Robert M O'Doherty, Lisa E Kratz, Nathan A Yates, Eric P Goetzman, Donald Scott, Andrew W Duncan, Edward V Prochownik
Establishing c-Myc's (Myc) role in liver regeneration has proven difficult particularly since the traditional model of partial hepatectomy may provoke an insufficiently demanding proliferative stress. We used a model of hereditary tyrosinemia whereby the affected parenchyma can be gradually replaced by transplanted hepatocytes, which replicate 50-100-fold, over several months. Prior to transplantation, livers from myc-/- (KO) mice were smaller in young animals and larger in older animals relative to myc+/+ (WT) counterparts...
May 24, 2016: Oncotarget
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