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Ronan O'Malley, Ganesh Rao, Penelope Stein, Oliver Bandmann
The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder...
March 14, 2018: Practical Neurology
Anne L Christiansen, Anette Bygum, Ole Hother-Nielsen, Lars M Rasmussen
The prevalence of diabetes mellitus is increased in patients with porphyria cutanea tarda. Different tests are available for diagnosing and screening for type II diabetes mellitus, however choosing the most suitable test is challenging. The pitfalls in the different tests along with the interfering comorbidities and treatments concerning patients with porphyria cutanea tarda complicate diagnosing these patients with diabetes mellitus. HbA1c, fasting glucose, or oral glucose tolerance are the current available tests, with HbA1c as first choice...
March 8, 2018: International Journal of Dermatology
Isabella Tabaro, Giuseppe Reimondo, Giangiacomo Osella, Caterina Aurizi, Pasquale Caraci, Luca Barbieri, Daniela Francesca Giachino, Fabio Sirchia, Massimo Terzolo
PURPOSE: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia...
March 7, 2018: Endocrine
Adele Latina, Massimo Terzolo, Anna Pia, Giuseppe Reimondo, Elena Castellano, Micaela Pellegrino, Giorgio Borretta
Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia...
2018: Case Reports in Endocrinology
Caroline Schmitt, Hugo Lenglet, Angèle Yu, Constance Delaby, Arndt Benecke, Thibaud Lefebvre, Philippe Letteron, Valérie Paradis, Staffan Wahlin, Sverre Sandberg, Pauline Harper, Eliane Sardh, Arne Kristian Sandvik, Johannes R Hov, Aasne Karine Aarsand, Laurence Chiche, Céline Bazille, Jean-Yves Scoazec, Jordi To Figueras, Montserrat Carrascal, Joaquim Abian, Arienne Mirmiran, Zoubida Karim, Jean-Charles Deybach, Hervé Puy, Katell Peoc'h, Hana Manceau, Laurent Gouya
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency. So far, the treatment of choice is hemin which represses ALAS1. The main issue in the medical care of AIP patients is the occurrence of debilitating recurrent attacks. OBJECTIVE: The aim of this study was to determine whether chronic hemin administration contributes to the recurrence of acute attacks...
March 2, 2018: Journal of Internal Medicine
Chiara Pisciotta, Michael E Shy
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT...
2018: Handbook of Clinical Neurology
Silvina Fernanda Ruspini, Johanna Romina Zuccoli, Jimena Verónica Lavandera, Marìa Del Carmen Martínez, Leda María Olivieri, Esther Noemí Gerez, Alcira María Del Carmen Batlle, Ana María Buzaleh
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disease produced by a deficiency of Porphobilinogen deaminase (PBGD). The aim of this work was to evaluate the effects of Isoflurane and Sevoflurane on heme metabolism in a mouse genetic model of AIP to further support our previous proposal for avoiding their use in porphyric patients. A comparative study was performed administering the porphyrinogenic drugs allylisopropylacetamide (AIA), barbital and ethanol, and also between sex and mutation using AIP (PBG-D activity 70% reduced) and T1 (PBG-D activity 50% diminished) mice...
February 21, 2018: Biochimica et Biophysica Acta
Jorge Espinoza-Ríos, Vanessa Valenzuela Granados, Manuel Ojeda Cisneros, Aldo Gálvez Canseco, Cesar Ramos Aguilar, Brunella Raymundo Villalva, Victor Aguilar Sánchez, José Pinto Valdivia, Jorge Huerta-Mercado Tenorio, Alejandro Bussalleu Rivera
The present case is a 56 year old male who present hyperpigmented and hypopigmented scars in both hands, associated with the presence of milia cysts. It was studied the metabolism of porphyrins and skin biopsy of the lesions which were compatible with porphyria cutanea tarda. In the initial laboratory, elevated transaminases values were found and subsequently identified chronic infection of hepatitis C virus. In order to treat viral infection and resolve the dermal commitment; considered extrahepatic manifestation of hepatitis C virus, treatment was started with pegylated interferon and ribavirin, with favorably development and rapid viral response, with undetectable viral load until now (24 weeks of treatment), decreased level of serum transaminases and improvement of skin lesions...
October 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
Margaux Luck, Caroline Schmitt, Neila Talbi, Laurent Gouya, Cédric Caradeuc, Hervé Puy, Gildas Bertho, Nicolas Pallet
Introduction: Metabolomic profiling combines Nuclear Magnetic Resonance spectroscopy with supervised statistical analysis that might allow to better understanding the mechanisms of a disease. Objectives: In this study, the urinary metabolic profiling of individuals with porphyrias was performed to predict different types of disease, and to propose new pathophysiological hypotheses. Methods: Urine 1H-NMR spectra of 73 patients with asymptomatic acute intermittent porphyria (aAIP) and familial or sporadic porphyria cutanea tarda (f/sPCT) were compared using a supervised rule-mining algorithm...
2018: Metabolomics: Official Journal of the Metabolomic Society
Laura Duque-Serrano, Liliana Patarroyo-Rodriguez, Dorothy Gotlib, Juan C Molano-Eslava
PURPOSE OF REVIEW: The aim of this paper is to review psychiatric manifestations, comorbidities, and psychopharmacological management in individuals with acute porphyria (AP). RECENT FINDINGS: Recent literature begins to clarify associations between AP, schizophrenia, bipolar disorder, and other psychopathology. Broad psychiatric symptoms have been associated to acute porphyria (AP) and correspond to a spectrum of heterogeneous manifestations such as anxiety, affective alterations, behavioral changes, personality, and psychotic symptoms...
February 2, 2018: Current Psychiatry Reports
John Lidemberto Cardenas, Carlos Guerrero
Despite medical advances, the diagnosis and management of acute intermittent porphyria continues to be challenging. Acute pain is one of the most important clinical manifestations in acute intermittent porphyria, but management and pain assessment have been poorly studied in these patients. The lack of information and evidence based recommendations regarding these topics in the medical literature is certainly surprising. Furthermore, pain management is discussed based on extrapolating concepts adopted for other pain syndromes...
February 26, 2018: Current Medical Research and Opinion
Sudesh Kumar Arya, Amit Raj, Piyush Kohli, Ravi Kant Bamotra
PURPOSE: To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors. METHODS: Case report Result: A 42-year-old Indian male diagnosed with PCT and history of daily intake of alcohol, presented with sudden decrease in vision of right eye. Examination showed perforated cornea surrounded by rim of 360-degree avascular necrotic sclera, with no evidence of infection...
January 25, 2018: Ocular Immunology and Inflammation
Hugo Lenglet, Caroline Schmitt, Thomas Grange, Hana Manceau, Narjesse Karboul, Florian Bouchet-Crivat, Anne-Marie Robreau, Gael Nicolas, Jerôme Lamoril, Sylvie Simonin, Arienne Mirmiran, Karim Zoubida, Enrique Casalino, Jean-Charles Deybach, Hervé Puy, Katell Peoc'h, Laurent Gouya
Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incomplete penetrance. We evaluated the prevalence, penetrance, and heritability of AIP, in families with the disease from the French reference center for porphyria (CFP) (602 overt patients; 1968 relatives) and the general population, using Exome Variant Server (EVS; 12,990 alleles) data. The pathogenicity of the 42 missense variants identified was assessed in silico, and in vitro, by measuring residual HMBS activity of the recombinant protein...
January 17, 2018: Human Molecular Genetics
Jie Bai, Zhi Hong Wang
Acute intermittent porphyria (AIP) is a metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase. Its clinical manifestations include acute abdominal pain,neuropsychological abnormalities,and red urine. Due to its low incidence and varied clinical symptoms,the rates of misdiagnosis and mistreatment were particularly high. Biochemical testing and gene detection contribute to diagnosis. Management strategies include intravenous administration of human haemin,carbohydrate loading and symptomatic treatment...
December 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
D Montgomery Bissell, Karl E Anderson, Herbert L Bonkovsky
No abstract text is available yet for this article.
November 23, 2017: New England Journal of Medicine
Daniel A Jaramillo-Calle
No abstract text is available yet for this article.
November 23, 2017: New England Journal of Medicine
Siddharth Sood, Nicholas Mingos, Gayle Ross
No abstract text is available yet for this article.
November 23, 2017: New England Journal of Medicine
Chia-Ni Lin, Ya-Ching Huang, Long-Sun Ro, Ming-Feng Liao, Hsiao-Chen Ning, Hung-Chou Kuo
BACKGROUND: Acute intermittent porphyria (AIP) is caused by diminished activity of porphobilinogen deaminase (PBGD). The purpose of this study was to validate and compare two assays for PBGD activity. The clinical sensitivity of the PBGD activity assays in AIP diagnosis was also evaluated. METHODS: This study included 74 subjects from 18 Taiwanese families including symptomatic patients with AIP, asymptomatic carriers, and healthy family members. The specific mutations in AIP patients were identified by DNA sequencing...
January 6, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Elizabeth B Malinzak, Nancy W Knudsen, Ankeet D Udani, Deepak Vikraman, Debra L Sudan, Timothy E Miller
No abstract text is available yet for this article.
November 28, 2017: Journal of Cardiothoracic and Vascular Anesthesia
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