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Porphyria

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https://www.readbyqxmd.com/read/27891417/a-commonly-missed-well-known-entity-acute-intermittent-porphyria-a-case-report
#1
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
#2
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
#3
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
#4
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 healthy age-, sex- and place of residence matched controls was performed. Plasma cytokines, insulin and C-peptide were analyzed after an overnight fast using multiplex assay. Long pentraxin-3 (PTX3) and complement activation products (C3bc and TCC) were analyzed using ELISA. Urine porphobilinogen ratio (U-PBG, µmol/mmol creatinine), hematological and biochemical tests were performed using routine methods...
November 8, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27851360/1725-acute-intermittent-porphyria-a-challenging-diagnosis
#5
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
#6
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
#7
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
#8
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)...
November 3, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27804912/emerging-therapies-for-acute-intermittent-porphyria
#9
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
#10
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
#11
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)...
October 31, 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
#12
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
https://www.readbyqxmd.com/read/27783504/the-remarkable-character-of-porphobilinogen-synthase
#13
Eileen K Jaffe
Porphobilinogen synthase (PBGS), also known as 5-aminolevulinate dehydratase, is an essential enzyme in the biosynthesis of all tetrapyrroles, which function in respiration, photosynthesis, and methanogenesis. Throughout evolution, PBGS adapted to a diversity of cellular niches and evolved to use an unusual variety of metal ions both for catalytic function and to control protein multimerization. With regard to the active site, some PBGSs require Zn(2+); a subset of those, including human PBGS, contain a constellation of cysteine residues that acts as a sink for the environmental toxin Pb(2+)...
October 26, 2016: Accounts of Chemical Research
https://www.readbyqxmd.com/read/27769855/acute-intermittent-porphyria-in-children-a-case-report-and-review-of-the-literature
#14
Manisha Balwani, Preeti Singh, Anju Seth, Ekta Malik Debnath, Hetanshi Naik, Dana Doheny, Brenden Chen, Makiko Yasuda, Robert J Desnick
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are commonly seen and may precede the diagnosis of AIP. As an example, we report a 9year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy...
October 15, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27767238/squamous-cell-carcinoma-of-the-penis-successfully-treated-with-imiquimod-5-cream-in-a-porphyria-cutanea-tarda-patient
#15
Pablo Fernández-Crehuet, Ricardo Ruiz-Villaverde, Juan J Rios-Martin, Amalia Pérez-Gil, Francisco Camacho-Martinez
No abstract text is available yet for this article.
October 21, 2016: Dermatologic Therapy
https://www.readbyqxmd.com/read/27748034/development-of-bullous-pemphigoid-during-the-haemodialysis-of-a-young-man-case-report-and-literature-survey
#16
Katarzyna Osipowicz, Agnieszka Kalinska-Bienias, Cezary Kowalewski, Katarzyna Wozniak
Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions...
October 17, 2016: International Wound Journal
https://www.readbyqxmd.com/read/27746433/transient-worsening-of-photosensitivity-due-to-cholelithiasis-in-a-variegate-porphyria-patient
#17
Shinji Susa, Fumiko Sato-Monma, Kouta Ishii, Yurika Hada, Kaoru Takase, Kyoko Tada, Kiriko Wada, Wataru Kameda, Kentaro Watanabe, Toshihide Oizumi, Tamio Suzuki, Makoto Daimon, Takeo Kato
Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C mutation (p.G14R) in the PPOX gene. His cutaneous photosensitivity had been worsening for 3 years before the emergence of cholecystitis and it then gradually improved after cholecystectomy and ursodeoxycholic acid treatment with a slight decline in the porphyrin levels in his blood, urine and stool...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27732687/resolution-of-porphyria-cutanea-tarda-in-patients-with-hepatitis-c-following-ledipasvir-sofosbuvir-combination-therapy
#18
Yun Tong, Ye Kyung Song, Stephen Tyring
No abstract text is available yet for this article.
October 12, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27693411/corrigendum-to-seven-novel-genetic-mutations-within-the-5-utr-and-the-housekeeping-promoter-of-hmbs-gene-responsible-for-the-non-erythroid-form-of-acute-intermittent-porphyria-blood-cells-mol-dis-49-2012-147-151
#19
Valentina Brancaleoni, Francesca Granata, Alessandra Colancecco, Dario Tavazzi, Maria Domenica Cappellini, Elena Di Pierro
No abstract text is available yet for this article.
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27688637/erratum-acute-intermittent-porphyria-a-critical-diagnosis-for-favourable-outcome
#20
(no author information available yet)
[This corrects the article on p. 428 in vol. 20, PMID: 27555700.].
September 2016: Indian Journal of Critical Care Medicine
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