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Katarzyna Osipowicz, Agnieszka Kalinska-Bienias, Cezary Kowalewski, Katarzyna Wozniak
Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions...
October 17, 2016: International Wound Journal
Shinji Susa, Fumiko Sato-Monma, Kouta Ishii, Yurika Hada, Kaoru Takase, Kyoko Tada, Kiriko Wada, Wataru Kameda, Kentaro Watanabe, Toshihide Oizumi, Tamio Suzuki, Makoto Daimon, Takeo Kato
Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C mutation (p.G14R) in the PPOX gene. His cutaneous photosensitivity had been worsening for 3 years before the emergence of cholecystitis and it then gradually improved after cholecystectomy and ursodeoxycholic acid treatment with a slight decline in the porphyrin levels in his blood, urine and stool...
2016: Internal Medicine
Yun Tong, Ye Kyung Song, Stephen Tyring
No abstract text is available yet for this article.
October 12, 2016: JAMA Dermatology
Valentina Brancaleoni, Francesca Granata, Alessandra Colancecco, Dario Tavazzi, Maria Domenica Cappellini, Elena Di Pierro
No abstract text is available yet for this article.
September 29, 2016: Blood Cells, Molecules & Diseases
(no author information available yet)
[This corrects the article on p. 428 in vol. 20, PMID: 27555700.].
September 2016: Indian Journal of Critical Care Medicine
Eric M Neverman, Rochelle Parker
No abstract text is available yet for this article.
October 1, 2016: Journal of the American Osteopathic Association
Valeria Fiorentino, Valentina Brancaleoni, Francesca Granata, Giovanna Graziadei, Elena Di Pierro
The PPOX gene encodes for the protoporphyrinogen oxidase, which is involved in heme production. The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. The tissue-specific regulation of other heme biosynthetic enzymes is extensively studied, but the information concerning transcriptional and post-transcriptional regulation of PPOX gene expression is scarcely available. In this study, we characterized functions of three variants identified in the regulatory regions of the PPOX gene, which show a novel role for the 5' untranslated exon 1...
October 2016: Blood Cells, Molecules & Diseases
Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
: Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for PCT. Recently, a polymorphic variant (D519G, c.1556A>G, rs11558492) of glyceronephosphate O-acyltransferase (GNPAT) was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype, suggesting that GNPAT D519G, like HFE C282Y, is a modifier of iron homeostasis that favors iron absorption...
2016: PloS One
Diosely C Silveira, Mahrukh Bashir, Joshua Daniel, Michelle H Lucena, Frank Bonpietro
We report on a 20-year-old patient with a 6-month history of recurrent abdominal pain and a 3-day history of vomiting, hypertension, seizures, and encephalopathy. The brain MRI showed posterior reversible encephalopathy syndrome, and continuous EEG (cEEG) monitoring showed lateralized periodic discharges plus fast activity. Comprehensive CSF studies were negative. Because of severe abdominal pain without a definite etiology, we requested urine porphobilinogen and serum and fecal porphyrins, which suggested acute intermittent porphyria (AIP)...
2016: Epilepsy & Behavior Case Reports
Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system...
March 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Eric Laurent Maranda, Robert Heifetz, William A Estes, Jacqueline Cortizo, Shahjahan Shareef, Joaquin J Jimenez
No abstract text is available yet for this article.
September 1, 2016: JAMA Dermatology
Joel Norton, Christine Hymers, Penelope Stein, Joanne May Jenkins, Duncan Bew
BACKGROUND: Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features. CASE REPORT: A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass...
September 10, 2016: Journal of Emergency Medicine
Stig Thunell
The attack of acute porphyria Based on in silico evidence of pharmacokinetic, pharmacodynamic, and physiologic properties, have approximately 1 300 medicinal drugs been assessed with regard to the specific risk to carriers of acute porphyria. The classifications have been published in booklet form, together with prophylactic advice to the carriers and suggestions for doctors in charge of their care. The risk-classifications rest on the behavior of the drug in an extended molecular model of the attack of acute porphyria...
2016: Läkartidningen
Rahim Vakili, Parisa Armanpoor
No abstract text is available yet for this article.
June 2016: Iranian Journal of Pediatrics
Ankita D Patil, Niteen D Karnik, Milind Y Nadkar, Vishal A Gupta, Krithika Muralidhara, Suresh Passidhi
Peripheral nervous system involvement occurs in 3-18% patients of systemic lupus erythematosus (SLE) cases. American College of Rheumatology (ACR) includes 19 neuropsychiatric syndromes for diagnosis of SLE divided into neurological syndromes of central, peripheral and autonomic nervous systems along with the psychiatric syndromes. Sensorimotor quadriparesis in a suspected case of SLE could be due to a Guillain Barré (GBS)-like illness, mononeuritis multiplex presenting as plexopathies, an anterior spinal artery syndrome or it can present like an acute transverse myelitis or hypokalemic periodic paralysis related to Sjogren's syndrome with renal tubular acidosis...
November 2015: Journal of the Association of Physicians of India
Hetanshi Naik, Mikayla Stoecker, Saskia C Sanderson, Manisha Balwani, Robert J Desnick
BACKGROUND: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks. Patients with recurrent attacks have a decreased quality of life (QoL); however, no interactive assessment of these patients' views has been reported. We conducted guided discussions regarding specific topics, to explore patients' disease experience and its impact on their lives. METHODS: Sixteen AHP patients experiencing acute attacks were recruited to moderator-led online focus groups...
August 24, 2016: Molecular Genetics and Metabolism
Anne-Marie Bonnefoy Mirralles, Rodrigo Torres-Castro, Constanza Ovalle Guzman
Acute intermittent porphyria (AIP) is an infrequent metabolic disease that can cause severe disability or death without timely treatment. A porphyric attack occurs when genetic factors combine with trigger factors, and diagnosis may be delayed owing to nonspecific symptoms. Recovery from AIP can be nearly or fully complete with proper treatment, which includes intravenous hematin administration, the control of trigger factors, and a comprehensive rehabilitation program. The aim of this case report was to describe the clinical evolution of a 43-year-old woman with AIP and a polyneuropathy...
August 31, 2016: American Journal of Physical Medicine & Rehabilitation
Valéria Aparecida Zanela Franzon, Emanuella Stella Mikilita, Fernanda Henriques Camelo, Rosana Camargo
This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of uroporphyrinogen decarboxylase (Urod), which may be hereditary or acquired. Several studies suggest that HIV infection associated with cofactors might trigger the development of porphyria cutanea tarda. In this case report, we present a patient infected with HIV, who after the introduction of antiretroviral therapy (ART) enjoyed clinical improvement of porphyria cutanea tarda symptoms...
July 2016: Anais Brasileiros de Dermatologia
Nanno Schreuder, Ilahä Mamedova, Frank G A Jansman
PURPOSE: The acute porphyrias are a group of rare metabolic disorders of the heme biosynthetic pathway. Carriers of the acute porphyria gene are prone to potentially fatal acute attacks, which can be precipitated by drug exposure. It is therefore important to know whether a drug is safe for carriers of the acute porphyria gene. In this study, radiopharmaceuticals were assessed on their porphyrogenicity (ie, the potential of a drug to induce an attack). METHODS: The assessment was conducted by classifying the drugs according to the Thunell model...
August 24, 2016: Clinical Therapeutics
Sietske H Kevelam, Rochus A Neeleman, Quinten Waisfisz, Edith C H Friesema, Janneke G Langendonk, Marjo S van der Knaap
OBJECTIVE: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family. METHODS: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We performed whole-exome sequencing to find the causal gene variants. RESULTS: We identified 3 family members with a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons...
September 20, 2016: Neurology
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