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Porphyria

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https://www.readbyqxmd.com/read/28416230/porphyria-cutanea-tarda%C3%A2-in-a-patient-with-hepatitis-c
#1
Elisabeth Gómez Moyano, Leandro Martínez Pilar, Maria Dolores Fernandez Ballesteros, Daniel Jesús Godoy Diaz
No abstract text is available yet for this article.
April 14, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28400347/squiz-your-knowledge-expanding-scarring-alopecia-in-a-patient-with-porphyria-cutanea-tarda
#2
Sara Campos, André Lencastre
No abstract text is available yet for this article.
April 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28398918/histological-features-of-methylene-blue-induced-phototoxicity-administered-in-the-context-of-parathyroid-surgery
#3
Ciara A Maguire, Anup Sharma, Lida Alarcon, Lorrette Ffolkes, Malgorzata Kurzepa, Lucy Ostlere, Venura Samarasinghe, Manuraj Singh
Methylene blue is a chromophore dye known for its photosensitizing properties. It is also administered intravenously as a tracer in parathyroid surgery to identify abnormal glands. We describe 2 cases of acute methylene blue-induced phototoxicity in patients who underwent parathyroidectomy. Both patients developed an acute vesiculopustular inflammatory rash on the anterior neck corresponding to the site exposed intraoperatively to overhanging surgical lights. One of the patients also developed a bulla on her finger at the site of attachment of the oxygen probe...
March 16, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28396719/case-of-hepatocellular-carcinoma-in-a-patient-with-hereditary-tyrosinemia-in-the-post-newborn-screening-era
#4
Essam M Imseis, John S Bynon, Chad Thornhill
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area...
March 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28369802/direct-acting-antivirals-for-hepatitis-c-virus-induce-a-rapid-clinical-and-biochemical-remission-of-porphyria-cutanea-tarda
#5
A Combalia, J To-Figueras, M Laguno, M Martinez-Rebollar, P Aguilera
Sporadic porphyria cutanea tarda (PCT) is strongly associated with HCV infection in our population (1,2,3,4.) . Therapeutic options for PCT include phlebotomies and low-dose 4-aminoquinolines, which show high rates of disease remission. However, some PCT patients may present frequent relapses attributable to resistance/intolerability/poor adherence to conventional treatments and/or persistence of risk factors. In 2014 we reported the first case of a patient with active PCT and HCV-HIV co-infection cured with direct antiviral agents (DAAs) (5) ...
March 29, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28360031/intermediate-filament-proteins-of-digestive-organs-physiology-and-pathophysiology
#6
M Bishr Omary
Intermediate filament proteins (IFs), such as cytoplasmic keratins in epithelial cells and vimentin in mesenchymal cells and the nuclear lamins, make up one of the 3 major cytoskeletal protein families. Whether in digestive organs or other tissues, IFs share several unique features including stress-inducible overexpression, abundance, cell-selective and differentiation-state expression, and association with >80 human diseases when mutated. While most IF mutations cause disease, mutations in simple epithelial keratins 8, 18 or 19, or in lamin A/C predispose to liver disease with or without other tissue manifestations...
March 30, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28349448/neonatal-onset-hereditary-coproporphyria-a-new-variant-of-hereditary-coproporphyria
#7
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed...
March 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28348263/pure-motor-axonal-neuropathy-triggered-by-antituberculous-therapy-in-an-undiagnosed-case-of-acute-intermittent-porphyria
#8
Masood Uz Zaman Babar, Haris Hakeem, Sara Khan
A man aged 22 years misdiagnosed as suffering from recurrent abdominal tuberculosis, in view of recurrent abdominal pain was treated for abdominal tuberculosis in the past. The patient was prescribed antituberculous therapy. 2 months after starting treatment, he developed progressive weakness of all 4 limbs. Electrodiagnostic examination revealed an acute severe motor axonal neuropathy. Further workup revealed elevated porphyrin precursors in urine.
March 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28334762/missense-uros-mutations-causing-congenital-erythropoietic-porphyria-reduce-uros-homeostasis-that-can-be-rescued-by-proteasome-inhibition
#9
Jean-Marc Blouin, Ganeko Bernardo-Seisdedos, Emma Sasso, Julie Esteve, Cécile Ged, Magalie Lalanne, Arantza Sanz-Parra, Pedro Urquiza, Hubert de Verneuil, Oscar Millet, Emmanuel Richard
Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability...
April 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28329491/congenital-erythropoietic-porphyria-gunther-disease-long-term-follow-up-of-a-case-and-review
#10
Matthew Howard, Anthony Hall, Donald Ramsay
Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Multiplepatient interviews and collection of biochemistry datawere conducted for the case discussion...
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28321838/porphyria-cutanea-tarda-an-intriguing-genetic-disease-and-marker
#11
REVIEW
Nancy S Handler, Marc Z Handler, Matthew P Stephany, Glenn A Handler, Robert A Schwartz
Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun-exposed skin, a classic presenting sign of PCT, is not exclusive to the condition...
March 21, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28321076/acute-intermittent-porphyria-presenting-with-posterior-reversible-encephalopathy-syndrome-accompanied-by-prolonged-vasoconstriction
#12
Tadayuki Takata, Kodai Kume, Yohei Kokudo, Kazuyo Ikeda, Masaki Kamada, Tetsuo Touge, Kazushi Deguchi, Tsutomu Masaki
A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator. Repeated MRI and magnetic resonance angiography revealed exacerbated PRES, part of which showed a small infarction, accompanied by progressive vasoconstriction...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28260267/performing-therapeutic-venesection-in-a-doctor-s-surgery
#13
Lim Hy, Ho Wk Ho
BACKGROUND: Although venesection was widely applied in the past for the treatment of various ailments and diseases, in modern medical practice, it is indicated in very few conditions, namely, hereditary haemochromatosis, polycythaemia and porphyria cutanea tarda. OBJECTIVE: This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery...
March 2017: Australian Family Physician
https://www.readbyqxmd.com/read/28252812/hepatitis-c-virus-and-its-cutaneous-manifestations-treatment-in-the-direct-acting-antiviral-era
#14
REVIEW
L E Wiznia, M E Laird, A G Franks
New all-oral direct-acting antivirals (DAA) have changed the hepatitis C virus (HCV) treatment landscape. Given that dermatologists frequently encounter HCV-infected patients, knowledge of the current treatment options and their utility in treating HCV-associated dermatologic disorders is important. In addition to highlighting the new treatment options, we review four classically HCV-associated dermatologic disorders - mixed cryoglobulinaemia (MC), lichen planus (LP), porphyria cutanea tarda (PCT) and necrolytic acral erythema (NAE) - and examine the role for all-oral direct-acting antiviral (DAA) regimens in their treatment...
March 2, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28220410/an-audit-of-the-use-of-gonadorelin-analogues-to-prevent-recurrent-acute-symptoms-in-patients-with-acute-porphyria-in-the-united-kingdom
#15
Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C Rees, Penelope Stein, Julian Barth, M Felicity Stewart, Michael Badminton
Severe recurrent acute attacks of porphyria have traditionally been treated with either prophylactic human haemin or gonadorelin analogues (GnA) in females. Evidence on the most effective treatment for this patient subgroup is lacking. This audit surveyed the use of prophylactic GnA in the UK.Twenty female patients (who experienced between 2 and 45 acute attacks of porphyria requiring hospitalisation and treatment with human haemin prior to GnA prophylaxis) were included in the audit. Data was retrospectively collected based on patient history and case review...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28210512/porphyria-cutanea-tarda-in-a-patient-with-end-stage-renal-disease-a-case-of-successful-treatment-with-deferoxamine-and-ferric-carboxymaltose
#16
Natacha Rodrigues, Fernando Caeiro, Alice Santana, Teresa Mendes, Leonor Lopes
Porphyria cutanea tarda (PCT) is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. Also, conventional treatment of PCT is compromised in these patients as hydroxychloroquine is contraindicated, phlebotomies with the stipulated frequency are poorly tolerated in already anaemia-prone patients, and iron-chelating agents are less efficient in removing iron and contribute to worsening anaemia...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28193754/author-response-acute-intermittent-porphyria-related-leukoencephalopathy
#17
Marjo S van der Knaap, Sietske H Kevelam
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28193753/letter-re-acute-intermittent-porphyria-related-leukoencephalopathy
#18
Wladimir B V R Pinto, Paulo Victor Sgobbi de Souza, Thiago Bortholin, Marco Antonio Troccoli Chieia, Acary S B Oliveira
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28143953/hemolytic-anemia-repressed-hepcidin-level-without-hepatocyte-iron-overload-lesson-from-g%C3%A3-nther-disease-model
#19
Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim
Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1...
February 2017: Haematologica
https://www.readbyqxmd.com/read/28133909/anti-hcv-for-porphyria-cutanea-tarda
#20
Ayman Abdelmaksoud
No abstract text is available yet for this article.
January 30, 2017: Dermatologic Therapy
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