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Porphyria

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https://www.readbyqxmd.com/read/28634198/the-effect-of-sustained-virological-response-on-the-risk-of-extrahepatic-manifestations-of-hepatitis-c-virus-infection
#1
Parag Mahale, Eric A Engels, Ruosha Li, Harrys A Torres, Lu-Yu Hwang, Eric L Brown, Jennifer R Kramer
BACKGROUND AND AIM: Chronic HCV infection is associated with several extrahepatic manifestations (EHMs). Data on the effect of sustained virological response (SVR) on the risk of EHMs are limited. METHODS: We conducted a retrospective cohort study using data of patients from the US Veterans Affairs HCV Clinical Case Registry who had a positive HCV RNA test (10/1999-08/2009). Patients receiving interferon-based antiviral therapy (AVT) were identified. SVR was defined as negative HCV RNA at least 12 weeks after end of AVT...
June 20, 2017: Gut
https://www.readbyqxmd.com/read/28632283/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#2
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28630774/lead-poisoning-can-be-easily-misdiagnosed-as-acute-porphyria-and-nonspecific-abdominal-pain
#3
Ming-Ta Tsai, Shi-Yu Huang, Shih-Yu Cheng
Lead poisoning (LP) is less commonly encountered in emergency departments (ED). However, lead exposure still occurs, and new sources of poisoning have emerged. LP often goes unrecognized due to a low index of suspicion and nonspecific symptoms. We present a case of a 48-year-old man who had recurring abdominal pain with anemia that was misdiagnosed. His condition was initially diagnosed as nonspecific abdominal pain and acute porphyria. Acute porphyria-like symptoms with a positive urine porphyrin test result led to the misdiagnosis; testing for heme precursors in urine is the key to the differential diagnosis between LP and acute porphyria...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28614581/clinical-biochemical-and-genetic-characterization-of-north-american-patients-with-erythropoietic-protoporphyria-and-x-linked-protoporphyria
#4
Manisha Balwani, Hetanshi Naik, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Jessica R Overbey, Bruce Wang, Ashwani K Singal, Lawrence U Liu, Robert J Desnick
Importance: Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized. Objective: To describe the baseline clinical characteristics, genotypes, and determinants of disease severity in a large patient cohort with EPP or XLP...
June 14, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28605040/acute-hepatic-porphyrias-recommendations-for-evaluation-and-long-term-management
#5
Manisha Balwani, Bruce Wang, Karl E Anderson, Joseph R Bloomer, D Montgomery Bissell, Herbert L Bonkovsky, John D Phillips, Robert J Desnick
The acute hepatic porphyrias (AHPs) are a group of four inherited disorders, each resulting from the deficient activity of a specific enzyme in the heme biosynthetic pathway. They present clinically with acute neurovisceral symptoms which may be sporadic or recurrent, and which, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic or recurrent acute attacks, asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations...
June 12, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28479501/porphyria-cutanea-tarda-as-the-initial-manifestation-of-subclinical-hereditary-hemochromatosis
#6
Oleksandr Trofymenko, Paul Sagerman, Drew Jb Kurtzman
No abstract text is available yet for this article.
May 4, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28464763/sporadic-porphyria-in-a-patient-with-stage-ii-melanoma-treated-with-interferon-%C3%AE
#7
Valerie Reymann, Celine Girard, Olivier Dereure, Bernard Guillot, Aurélie Du Thanh
Porphyria cutanea tarda (PCT) is the most common form of human porphyria, due to reduced activity of uroporphyrinogen decarboxylase (UROD). There are many factors which can trigger PCT such as viral infections, excessive alcohol intake, iron overload, hepatotoxic drugs and hepatic tumours. Drug induced PCT is well documented but PCT induced by interferon α has rarely been described and only in cases of Hepatitis C Virus (HCV) infection or haematological malignancies. Here, we report the first case of de novo PCT induced by adjuvant interferon α (IFNα) therapy in a patient with stage II melanoma...
May 2, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28416230/porphyria-cutanea-tarda%C3%A2-in-a-patient-with-hepatitis-c
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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