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https://www.readbyqxmd.com/read/28045721/case-report-red-urine-after-day-care-strabismus-surgery
#1
Pregardien Caroline, Nassogne Marie-Cécile, Yuksel Demet, Veyckemans Francis
In the absence of surgery on the urinary tract, the emission of red urine after anesthesia should be considered as a diagnostic emergency because it can be a sign of hematuria, hemoglobinuria, blood transfusion reaction, significant myoglobinuria, or porphyria.This case describes the management of a 12-year-old boy who presented red urine at the day care unit after strabismus surgery.
December 30, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/28031405/a-variant-of-peptide-transporter-2-predicts-the-severity-of-porphyria-associated-kidney-disease
#2
Dimitri Tchernitchko, Quentin Tavernier, Jérôme Lamoril, Caroline Schmitt, Neila Talbi, Said Lyoumi, Anne-Marie Robreau, Zoubida Karim, Laurent Gouya, Eric Thervet, Alexandre Karras, Hervé Puy, Nicolas Pallet
CKD occurs in most patients with acute intermittent porphyria (AIP). During AIP, δ-aminolevulinic acid (ALA) accumulates and promotes tubular cell death and tubulointerstitial damage. The human peptide transporter 2 (PEPT2) expressed by proximal tubular cells mediates the reabsorption of ALA, and variants of PEPT2 have different affinities for ALA. We tested the hypothesis that PEPT2 genotypes affect the severity and prognosis of porphyria-associated kidney disease. We analyzed data from 122 individuals with AIP who were followed from 2003 to 2013 and genotyped for PEPT2 At last follow-up, carriers of the PEPT2*1*1 genotype (higher affinity variant) exhibited worse renal function than carriers of the lower affinity variants PEPT2*1/*2 and PEPT2*2/*2 (mean±SD eGFR: 54...
December 28, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28025645/clinical-and-laboratory-features-of-acute-porphyria-a-study-of-36-subjects-in-a-chinese-tertiary-referral-center
#3
Jing Yang, Qianlong Chen, Hang Yang, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Huadong Zhu, Xuezhong Yu, Li Zhang, Zhou Zhou
Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18-45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p = 0...
2016: BioMed Research International
https://www.readbyqxmd.com/read/28011390/reversible-mri-findings-in-a-case-of-acute-intermittent-porphyria-with-a-novel-mutation-in-the-porphobilinogen-deaminase-gene
#4
Jing Yang, Hang Yang, Qianlong Chen, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Zhou Zhou
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes...
December 18, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28003770/advances-in-the-management-of-erythropoietic-protoporphyria-role-of-afamelanotide
#5
REVIEW
Ashley M Lane, Jerome T McKay, Herbert L Bonkovsky
Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP) chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. In XLPP, the genetic defect is a gain-of-function mutation, usually a four-base deletion, in the gene that encodes the enzyme 5-aminolevulinic acid synthase-2, the first and rate-controlling enzyme of heme synthesis in developing red blood cells...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27982422/update-review-of-the-acute-porphyrias
#6
REVIEW
Penelope E Stein, Michael N Badminton, David C Rees
Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features...
December 16, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27960012/-porphyrias-and-the-kidney
#7
Caterina Canavese
No abstract text is available yet for this article.
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27930636/what-hematologists-need-to-know-about-acute-hepatic-porphyria
#8
Manisha Balwani
No abstract text is available yet for this article.
November 2016: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/27891417/a-commonly-missed-well-known-entity-acute-intermittent-porphyria-a-case-report
#9
Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27871506/elective-cholecystectomy-performed-on-patient-with-variegate-porphyria-propofol-based-total-intravenous-anesthesia-with-target-controlled-infusion
#10
Adam Kuźmiński, Michał Aporowicz, Monika Brol, Anna Żołnowska, Maciej Masternak
Porphyria is caused by disorders of enzymes that synthetize porphyrins. Both elective and emergency surgical procedures on patient suffering from porphyria may provoke acute symptoms. These patients require special anesthetic management since some of commonly used anesthetic agents may also induce acute manifestation of porphyria. We present the case of 53-year-old woman previously diagnosed with porphyria who underwent elective laparoscopic cholecystectomy. Propofol-based total intravenous anesthesia with target-controlled infusion was used...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27859603/congenital-erythropoietic-porphyria-mild-presentation-with-late-onset-associated-with-a-mutation-in-the-uros-gene-promoter-sequence
#11
A Fityan, H Fassihi, R Sarkany
No abstract text is available yet for this article.
December 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27859020/systemic-inflammation-in-acute-intermittent-porphyria-a-case-control-study
#12
E Storjord, J A Dahl, A Landsem, H Fure, J K Ludviksen, S Goldbeck-Wood, B O Karlsen, K S Berg, T E Mollnes, E W Nielsen, O-L Brekke
This study aimed to examine whether acute intermittent porphyria (AIP) is associated with systemic inflammation and whether the inflammation correlates with disease activity. A case-control study with 50 AIP cases and age-, sex- and place of residence-matched controls was performed. Plasma cytokines, insulin and C-peptide were analysed after an overnight fast using multiplex assay. Long pentraxin-3 (PTX3) and complement activation products (C3bc and TCC) were analysed using enzyme-linked immunosorbent assay (ELISA)...
November 8, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27851360/1725-acute-intermittent-porphyria-a-challenging-diagnosis
#13
Anusha Shanbhag, Kshitij Chatterjee, Jagpal Klair, Manish Joshi
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27849156/molecular-characterisation-of-acute-intermittent-porphyria-in-a-cohort-of-south-african-patients-and-kinetic-analysis-of-two-expressed-mutants
#14
Philip Fortgens, Elaine Pienaar, Anne Corrigall, Mark Sonderup, C Wendy Spearman, Peter Meissner
AIMS: Acute intermittent porphyria (AIP) is a disorder of the haem biosynthetic pathway caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Knowledge of the spectrum of mutations present in South Africa is limited. This study presents the molecular profile of 20 South African patients with AIP, and the kinetic analysis of one novel expressed mutated HMBS enzyme and a previously identified mutation at the same position. METHODS: Genomic DNA was isolated from affected probands and selected family members, the HMBS gene amplified and mutations characterised by direct sequencing and restriction enzyme analysis...
November 14, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27837157/case-report-of-patient-with-erythropoietic-protoporphyria-and-basal-cell-carcinoma-diagnoses
#15
Shayne D Reitmeier, Brent Schacter, Marni C Wiseman
BACKGROUND: Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer. There is a clear association between BCC development and ultraviolet (UV) radiation. Erythropoietic protoporphyria (EPP) is an inherited porphyria disorder that is a result of protoporphyrin accumulation, typically manifesting with phototoxicity. CASE SUMMARY: We report a case of a 24 year-old man with both EPP and BCC diagnoses. At the age of 4 years, the patient was diagnosed with EPP...
November 11, 2016: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27818118/-medical-induced-abortion
#16
K Bettahar, A Pinton, T Boisramé, V Cavillon, S Wylomanski, I Nisand, D Hassoun
OBJECTIVE: Updated clinical recommendations for medical induced abortion procedure. METHODS: A systematic review of French and English literature, reviewing the evidence relating to the provision of medical induced abortion was carried out on PubMed, Cochrane Library and international scientific societies recommendations. RESULTS: The effectiveness of medical abortion is higher than 95% when the protocols are adjusted to gestational age (EL1)...
December 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27804912/emerging-therapies-for-acute-intermittent-porphyria
#17
Antonio Fontanellas, Matías A Ávila, Pedro Berraondo
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme synthesis pathway. The dominant clinical feature is acute neurovisceral attack associated with high production of potentially neurotoxic porphyrin precursors due to increased hepatic heme consumption. Current Standard of Care is based on a down-regulation of hepatic heme synthesis using heme therapy. Recurrent hyper-activation of the hepatic heme synthesis pathway affects about 5% of patients and can be associated with neurological and metabolic manifestations and long-term complications including chronic kidney disease and increased risk of hepatocellular carcinoma...
November 2, 2016: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/27799046/targeting-the-nrf2-heme-oxygenase-1-axis-after-intracerebral-hemorrhage
#18
Jing Chen-Roetling, Raymond F Regan
BACKGROUND: Injury to cells adjacent to an intracerebral hemorrhage (ICH) is likely mediated at least in part by toxins released from the hematoma that initiate complex and interacting injury cascades. Pharmacotherapies targeting a single toxin or pathway, even if consistently effective in controlled experimental models, have a high likelihood of failure in a variable clinical setting. Nuclear factor erythroid-2 related factor 2 (Nrf2) regulates the expression of heme oxygenase-1 (HO-1) and multiple other proteins with antioxidant and anti-inflammatory effects, and may be a target of interest after ICH...
October 27, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27796941/hepatic-porphyria-a-narrative-review
#19
REVIEW
Sumant Arora, Steven Young, Sudha Kodali, Ashwani K Singal
Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT)...
November 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/27788171/haem-biosynthesis-and-antioxidant-enzymes-in-circulating-cells-of-acute-intermittent-porphyria-patients
#20
Miguel D Ferrer, Antonia Mestre-Alfaro, Magdalena Martínez-Tomé, Lucrecia Carrera-Quintanar, Xavier Capó, Antonia M Jiménez-Monreal, Luis García-Diz, Enrique Roche, María A Murcia, Josep A Tur, Antoni Pons
The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively...
2016: PloS One
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