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https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#1
REVIEW
Robert Dawe
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29128804/hexachlorobenzene-as-a-persistent-organic-pollutant-toxicity-and-molecular-mechanism-of-action
#2
REVIEW
Beata Starek-Świechowicz, Bogusława Budziszewska, Andrzej Starek
Hexachlorobenzene (HCB) is an organochlorine pesticide widely distributed in the environment. Chronic exposure of humans to HCB leads to a number of effects, such as triggering of porphyria, microsomal enzyme induction, thyroid dysfunctions, neurological symptoms, and immunological disorders. In animals, HCB induced hepatic porphyria, neurotoxic effects, and toxic effects on the thyroid function, reproductive system, and immune system. HCB as a dioxin-like compound and a weak ligand of the aryl hydrocarbon receptor (AhR) is a hormonal disruptor...
July 1, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29097018/antiepileptic-drugs-and-liver-disease
#3
REVIEW
Jorge Vidaurre, Satya Gedela, Shannon Yarosz
Acute, symptomatic seizures or epilepsy may complicate the course of hepatic disease. Choosing the most appropriate antiepileptic drug in this setting represents a difficult challenge, as most medications are metabolized by the liver. This article focuses on the acute and chronic treatment of seizures in patients with advanced liver disease and reviews the hepatotoxic potential of specific antiepileptic drugs. Newer antiepileptic drugs without, or with minimal, hepatic metabolism, such as levetiracetam, lacosamide, topiramate, gabapentin, and pregabalin should be used as first-line therapy...
September 22, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29094055/effect-of-menstrual-cycle-on-acute-intermittent-porphyria
#4
V R Souza Júnior, V M V Lemos, I M L Feitosa, R Florencio, C W B Correia, L B Correia Fontes, M F Hazin Costa, M C B Correia
A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29091216/resolution-of-porphyria-cutanea-tarda-in-hiv-and-mixed-hcv-coinfection-after-direct-acting-antiviral-daa-therapy
#5
B Bruzzone, O Magnani, L Sticchi, P Canepa, E Rappazzo, G Icardi, M Setti
No abstract text is available yet for this article.
October 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28990424/an-inducible-promoter-responsive-to-different-porphyrinogenic-stimuli-improves-gene-therapy-vectors-for-acute-intermittent-porphyria
#6
Irantzu Serrano, Ana Sampedro, Manuel Alegre, Rafael Enriquez de Salamanca, Pedro Berraondo, Antonio Fontanellas
Porphobilinogen deaminase (PBGD)-gene therapy represents a promising therapeutic option for acute intermittent porphyria (AIP) patients suffering recurrent acute attacks. The first-in-human phase 1 clinical trial confirmed the safety and tolerability of AAV-AAT-PBGD gene therapy but higher doses and/or more efficient vectors are needed to achieve therapeutic expression of the transgene. We assayed the insertion into the promoter of a short enhancer element able to induce transgene expression during the exposure to endogenous and exogenous stimuli related to the pathology of the disease...
October 7, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28988019/acute-intermittent-porphyria-after-right-hemi-colectomy
#7
Shadi Alshammary, Reem Al Dulaijan, Khaldoon Saleh, Hazem Zakaria, Ahmed Eldamati, Norah Alwakeel, Abdulmohsen Al-Mulhim
INTRODUCTION: Acute intermittent porphyria is a rare autosomal dominant metabolic disease. It is caused by a genetic mutation that results in deficiency of porphobilinogen deaminase enzyme, the third enzyme in heme biosynthesis. Acute intermittent porphyria precipitated by surgery is very rare. CASE PRESENTATION: We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28987047/-epidemiology-and-risk-factors-of-hepatocellular-carcinoma
#8
REVIEW
Agnieszka Budny, Piotr Kozłowski, Marzena Kamińska, Małgorzata Jankiewicz, Agnieszka Kolak, Bożena Budny, Witold Budny, Joanna Niemunis-Sawicka, Grzegorz Szczypiór, Bartosz Kurniawka, Franciszek Burdan
Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. It also varies significantly depending on the geographic location. The main factors that cause HCC are infection of HBV and HCV, whose genome integrates into the DNA of the host, causing mutations. The other factors include excessive alcohol consumption, contact or consumption of Aspergillus toxins as well as various metabolic disorders, such as α1-antitrypsin deficiency, hemochromatosis, tyrosinemia, porphyria, von Gierke disease and in person with gene mutation p...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28984284/acute-pancreatitis-due-to-an%C3%A2-attack-of-acute-intermittent-porphyria
#9
Anna Matyjek, Przemysław Dyrla, Jerzy Gil, Piotr Gietka, Arkadiusz Lubas, Marek Saracyn
No abstract text is available yet for this article.
September 29, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#10
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28904459/clinical-biochemical-characteristics-and-hospital-outcome-of-acute-intermittent-porphyria-patients-a-descriptive-study-from-north-india
#11
Susheel Kumar, Ashish Bhalla, Navneet Sharma, Deba Prasad Dhibar, Savita Kumari, Subhash Varma
INTRODUCTION: Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND METHODS: It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed. RESULTS: Fifteen AIP patients constituted of eight females and seven males were analyzed...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#12
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28884440/disappearance-of-multiple-hyperechoic-liver-nodules-in-sporadic-porphyria-cutanea-tarda-after-treatment-with-ledipasvir-sofosbuvir-for-hepatitis-c
#13
Kazuhide Takata, Satoshi Shakado, Keiko Sakamoto, Hiromi Fukuda, Ryo Yamauchi, Sho Fukuda, Hideo Kunimoto, Kaoru Umeda, Takashi Tanaka, Keiji Yokoyama, Daisuke Morihara, Yasuaki Takeyama, Makoto Irie, Shotaro Sakisaka
Ultrasonography in a 60-year-old man with chronic hepatitis C (CHC) demonstrated multiple hyperechoic nodules. Radiological investigations did not reveal any signs of malignancy. However, magnetic resonance chemical shift imaging showed multiple focal fatty changes in the liver. Urinary levels of uroporphyrin and coproporphyrin were elevated, and we made a diagnosis of porphyria cutanea tarda. Direct-acting antivirals, ledipasvir/sofosbuvir, were initiated for CHC, which led to sustained viral response, resolution of the liver nodules, and normalization of urinary porphyrin...
October 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28874591/mutation-in-human-clpx-elevates-levels-of-%C3%AE-aminolevulinate-synthase-and-protoporphyrin-ix-to-promote-erythropoietic-protoporphyria
#14
Yvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, Julia R Kardon, Hana Manceau, Caroline Kannengiesser, Hector A Bergonia, Martin D Kafina, Zoubida Karim, Laurent Gouya, Tania A Baker, Hervé Puy, John D Phillips, Gaël Nicolas, Barry H Paw
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We previously discovered that the mitochondrial AAA+ unfoldase ClpX promotes heme biosynthesis by activation of δ-aminolevulinate synthase (ALAS), which catalyzes the first step of heme synthesis. CLPX has also been reported to mediate heme-induced turnover of ALAS...
September 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28870041/-gonadotropin-releasing-hormone-agonist-to-treat-acute-intermittent-porphyria-a-case-report
#15
J Bai, L L Gong, Y Wang
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28865079/acquired-erythropoietic-uroporphyria-secondary-to-myelodysplastic-syndrome-with-chromosome-3-alterations-a-case-report
#16
S Podlipnik, F Guijarro, A Combalia, J To-Figueras, C Badenas, D Costa, M Rozman, S Jorge, P Aguilera, A Gaya
Congenital erythropoietic porphyria (CEP) is a rare, autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase (UROS), due to mutations in the UROS gene in chromosome 10. On occasion, patients show a mild late-onset disease, without germline UROS mutations, associated with hematologic malignancies. We report a 65-year-old patient with photosensitivity, porphyrins overexcretion and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possible due to an inversion including 3q21 and 3q26 breakpoints...
September 2, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28854095/porphyria
#17
REVIEW
D Montgomery Bissell, Karl E Anderson, Herbert L Bonkovsky
New England Journal of Medicine, Volume 377, Issue 9, Page 862-872, August 2017.
August 31, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28815861/radiation-and-chemotherapy-with-no-excessive-toxicity-in-a-patient-with-human-papillomavirus-related-tonsillar-cancer-and-porphyria-cutanea-tarda-case-report-and-literature-review
#18
James K Russo, Annie Braseth
BACKGROUND: Porphyria is a condition of cutaneous photosensitivity. It is unclear if radiotherapy (RT) is safe in patients with porphyria. METHODS: We report a patient case with uncontrolled porphyria cutanea tarda treated with chemoradiation for p16-positive oropharyngeal cancer. Given the scarcity of data on this subject, we also conducted a literature review on the topic of radiation in patients with porphyria. RESULTS: The patient in our study did not experience any unusual acute or late toxicity, despite receiving a high dose of cutaneous radiation...
August 16, 2017: Head & Neck
https://www.readbyqxmd.com/read/28755733/hepatitis-c-viral-infection-and-porphyria-cutanea-tarda
#19
EDITORIAL
Jeffrey P Callen
No abstract text is available yet for this article.
July 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#20
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
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