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Porphyria

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https://www.readbyqxmd.com/read/28712039/cutaneous-manifestations-of-scleroderma-and-scleroderma-like-disorders-a-comprehensive-review
#1
REVIEW
Caterina Ferreli, Giulia Gasparini, Aurora Parodi, Emanuele Cozzani, Franco Rongioletti, Laura Atzori
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations...
July 16, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28695690/cerebral-vasospasm-in-acute-porphyria
#2
P Olivier, D Van Melkebeke, P-J Honoré, L Defreyne, D Hemelsoet
BACKGROUND AND PURPOSE: Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non-acute porphyrias considering the occurrence of life-threatening neurovisceral attacks, presenting with abdominal pain, neuropsychiatric disturbance and neuropathy. Vasospasm is a very rare complication that can occur in all major types of acute porphyria. METHODS: We describe a porphyric crisis with vasospasm in a woman with previously undiagnosed acute porphyria...
July 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28689593/dermatologic-manifestations-of-chronic-hepatitis-c-infection
#3
REVIEW
Mehmet Sayiner, Pegah Golabi, Freba Farhat, Zobair M Younossi
Chronic hepatitis C virus (HCV) infection is associated with various extrahepatic manifestations, including dermatologic involvement mostly caused by immune complexes. Mixed cryoglobulinemia has a strong relationship with HCV with 95% of these patients being infected with HCV. Lichen planus is a disease of the squamous epithelium and may affect any part of the skin, with 4% to 24% of patients with lichen planus reported to have chronic HCV infection. Porphyria cutanea tarda is the most common form of porphyria, and it is thought that HCV interferes with iron stores, which can promote porphyria cutanea tarda...
August 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28666226/comprehensive-analysis-of-the-tryptophan-metabolome-in-urine-of-patients-with-acute-intermittent-porphyria
#4
Alex Gomez-Gomez, Josep Marcos, Paula Aguilera, Jordi To-Figueras, Oscar J Pozo
BACKGROUND: Acute intermittent porphyria (AIP) is a rare metabolic disorder due to a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. This low enzymatic activity may predispose to the appearance of acute neurological attacks. Seminal studies suggested that AIP was associated with changes in tryptophan homeostasis with inconclusive results. Therefore, the aim of this study was to analyze the urinary metabolome of AIP patients focusing on tryptophan metabolism using state-of-the-art technology...
June 19, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28654958/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#5
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/28653968/an-unusual-cause-of-headache-and-fatigue-in-a-division-1-collegiate-athlete
#6
Ali Y Makki, John Leddy, Koki Takano, Rajiv Jain
Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Months later, his grandmother was diagnosed with VP after being hospitalized; hence, he was tested. He was positive for a heterozygous missense mutation, R168H, in one protoporphyrinogen oxidase allele. This case highlights a rare disorder of heme synthesis that should be considered in the differential diagnosis of exertional fatigue and headaches in athletes...
July 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28653147/-altered-orientation-and-aggressiveness-in-an-89-year-old-woman
#7
M Kowar, A H Jacobs
An 89-year-old woman with Alzheimer's dementia was admitted because of altered orientation, aggressiveness and inability to take care of herself at home. Her patient history indicated that 14 days ago the battery of the pacemaker had be renewed. During that time the patient suffered from psychomotor alterations. Therefore, melperone had been initiated. Inspection of the urine and laboratory findings pointed towards an acute exacerbation of acute intermittent porphyria as a possible cause of the delirium. After discontinuation of melperone with additional parenteral therapy with physiological fluids, the signs of delirium significantly improved...
June 26, 2017: Der Internist
https://www.readbyqxmd.com/read/28641714/hepatitis-c-treatment-in-patients-with-porphyria-cutanea-tarda
#8
Ashwani K Singal, Krishna V R Venkata, Sarat Jampana, Fakhar-Ul Islam, Karl E Anderson
BACKGROUND: Hepatitis C virus (HCV) infection is a common susceptibility factor for porphyria cutanea tarda (PCT). Experience on HCV treatment in patients with PCT is limited. Recently, HCV treatment has improved with direct-acting antivirals (DAA). We review our experience on HCV treatment in patients with PCT with older and newer regimens. MATERIALS AND METHODS: A retrospective chart review was conducted. HCV treatment was attempted 22 times in 13 patients with PCT (5 attempts in 1, 2 in 5 and 1 in the other 7 patients)...
June 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28638573/acute-intermittent-porphyria-a-test-of-clinical-acumen
#9
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28634198/the-effect-of-sustained-virological-response-on-the-risk-of-extrahepatic-manifestations-of-hepatitis-c-virus-infection
#10
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
#11
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
#12
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
#13
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
#14
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
#15
Oleksandr Trofymenko, Paul Sagerman, Drew J B 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
#16
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
#17
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
#18
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
#19
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...
August 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
#20
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
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