ArticleInternational journal of preventive medicine2013
Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation.
Article in International journal of preventive medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.Healthcare (Basel, Switzerland) · 2022Review
- Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.Cureus · 2020Article
- Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.Paediatric drugs · 2019Review
- NovelAdvanced pharmaceutical bulletin · 2019Article
- Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I.Iranian journal of pediatrics · 2016Article
- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.JIMD reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme. This disease manifests with severe liver and kidney impairment and is associated with an increased risk of liver cancer. The aim of this study was to evaluate clinical, laboratory, imaging, and histopathologic characteristics in the children with HT1 who had referred for liver transplantation.
methodsThe present retrospective study was conducted on 45 children with HT1 who had referred to Organ Transplantation Center affiliated to Shiraz University of Medical Sciences between March 2005 and March 2010.
resultsThere were 64.4% boys and 35.6% girls with mean age of 3.75±1.28 year (ranges from 2 months to 13 years). The most first clinical presentation was hepatic (80%) and the most prevalent physical findings were hepatomegaly (57.8%), splenomegaly (51.1%), ascites (42.2%), and jaundice (37.9%). The most relevant laboratory parameters were the high serum succinylacetone, alpha-fetoprotein, and tyrosine levels. The most common findings in the patient's abdominal ultrasonography were multiple hepatic nodules (75.6%) and inhomogeneous parenchymal echogenicity of liver (48.9%), while hyper and hypo attenuated nodules (60%) and non-homogeneous pattern of liver parenchyma (53.3%) were the most prevalent findings in abdominal computed tomography scan. In the histopathology of the liver, the most important finding was cirrhosis in all the patients. In this study, 14 patients (31.1%) received Nitisinone (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyklohexanedione; NTBC).
conclusionsThis study described clinical and laboratory findings in the children with HT1 who had referred for liver transplantation because of end-stage liver disease from all over country, which indicates delay in diagnosis and treatment of this disease. Considering the results of this study, newborn screening for this disease is highly suggested.
Indexed as
Identifiers
24498493PMC3898443W1578780537What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.