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Porphyria

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https://www.readbyqxmd.com/read/29791431/pseudo-porphyria-or-porphyria-cutanea-tarda
#1
Vitorino Modesto Dos Santos
No abstract text is available yet for this article.
January 2018: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29789288/porphyria-cutanea-tarda-presenting-as-milia-and-blisters
#2
Long Hoai Nguyen, Karima Khamisa
No abstract text is available yet for this article.
May 22, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29774528/slc40a1-and-cp-single-nucleotide-polymorphisms-in-porphyria-cutanea-tarda-patients-of-mixed-ancestry
#3
Isabella Brasil Succi, Luís Cristóvão Pôrto, Dayse Silva, Adriana Nascimento, Ronald Costa Neto, João Carlos Fonseca
Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated...
May 17, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29750336/relapse-of-porphyria-cutanea-tarda-after-treatment-with-phlebotomy-or-4-aminoquinoline-antimalarial-a-meta-analysis
#4
H Salameh, H Sarairah, M Rizwan, Y-F Kuo, K E Anderson, A K Singal
INTRODUCTION: Porphyria cutanea tarda (PCT), the most common human porphyria, due to hepatic deficiency of uroporphyrinogen decarboxylase (UROD) activity, which is acquired in the presence of multiple susceptibility factors. PCT presents clinically with cutaneous blistering photosensitivity and is readily treatable with either repeated phlebotomy or 4-aminoquinoline antimalarial. We performed a systematic review and meta-analysis to compare the effectiveness of these quite different treatment approaches, especially on relapse rates after achieving remission...
May 11, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29746920/animal-models-of-nafld-from-the-pathologist-s-point-of-view
#5
REVIEW
Helmut Denk, Peter M Abuja, Kurt Zatloukal
Fatty liver disease is a multifactorial world-wide health problem resulting from a complex interplay between liver, adipose tissue and intestine and initiated by alcohol abuse, overeating, various types of intoxication, adverse drug reactions and genetic or acquired metabolic defects. Depending on etiology fatty liver disease is commonly categorized as alcoholic or non-alcoholic. Both types may progress from simple steatosis to the necro-inflammatory lesion of alcoholic (ASH) and non-alcoholic steatohepatitis (NASH), respectively, and finally to cirrhosis and hepatocellular carcinoma...
May 7, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29731767/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-in-hmbs-gene-in-a-chinese-patient-with-acute-intermittent-porphyria-with-rare-type-of-mild-anemia
#6
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29705816/brain-perfusion-defects-by-spet-ct-and-neurostat-semi-quantitative-analysis-in-two-patients-with-congenital-erythropoietic-porphyria
#7
Vincenzo Frusciante, Cristina Ferrari, Manuela Totaro, Guido Valle, Claudio Carmine Guida, Filippo Aucella, Paola Caputo, Giuseppe Rubini
BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder with chronic and relatively stable presentation. Till now brain blood flow derangements have been described only in acute hepatic porphyrias. We describe the first findings of brain perfusion defects, studied by single photon emission tomography/computed tomography (SPET/CT), in two patients affected by CEP, by using a semi-quantification anatomic-standardized voxel-based program compared with magnetic resonance imaging (MRI) results...
January 2018: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29675607/medical-and-financial-burden-of-acute-intermittent-porphyria
#8
Rochus A Neeleman, Margreet A E M Wagenmakers, Rita H Koole-Lesuis, G Sophie Mijnhout, J H Paul Wilson, Edith C H Friesema, Janneke G Langendonk
INTRODUCTION: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers. METHODS: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands...
April 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29660996/annals-express-a-case-of-hereditary-coproporphyria-with-posterior-reversible-encephalopathy-and-novel-cpox-gene-mutation-c-863t-g-p-leu288trp
#9
Deborah Lambie, Christopher M Florkowski, Chris Sies, Anthony Raizis, Wai-Kwan Siu, Cindy Towns
A 21 year old female had recurrent presentations to the Emergency Department (ED) with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval 135-145) and she had fluctuating hypertension. Acute porphyria was suspected and confirmed with raised urine porphobilinogen (PBG)/creatinine ratio of 12·4 umol/mmol (reference interval < 1·5) and she was treated with intravenous haem arginate. Urinary porphyrin/creatinine ratio was 673 nmol/mmol, (reference interval <35) and faecal porphyrins 2430 umol/kg dry weight (reference interval <200) were markedly elevated, with raised faecal CIII:CI ratio, consistent with acute coproporphyria...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29644058/porphyria-and-kidney-diseases
#10
Nicolas Pallet, Alexandre Karras, Eric Thervet, Laurent Gouya, Zoubida Karim, Hervé Puy
The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology. In turn, disturbances in haem metabolism interfere with renal physiology and are tightly interrelated with kidney diseases. Acute intermittent porphyria causes kidney injury, whereas medical situations associated with end-stage renal disease, such as porphyrin accumulation, iron overload and hepatitis C, participate in the inhibition of uroporphyrinogen decarboxylase and predispose the individual to porphyria cutanea tarda...
April 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29610169/erythropoietic-protoporphyria-initial-diagnosis-with-cholestatic-liver-disease
#11
Amy Coffey, Daniel H Leung, Norma M Quintanilla
The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous manifestations. Hepatobiliary disease affects the minority of individuals with EPP and usually manifests in patients with an established diagnosis of EPP. We report on a classic but rare case of EPP that masqueraded as cholestasis. An 8-year-old boy was referred to the Hepatology Clinic after an abrupt onset of jaundice with a longstanding history of dermatitis...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29594648/identification-and-characterization-of-40-novel-hydroxymethylbilane-synthase-mutations-that-cause-acute-intermittent-porphyria
#12
Brenden Chen, Constanza Solis-Villa, Angelika L Erwin, Manisha Balwani, Irina Nazrenko, John D Phillips, Robert J Desnick, Makiko Yasuda
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis. Molecular diagnosis is the most sensitive and specific diagnostic test for AIP, and importantly, it permits the identification of asymptomatic family members for genetic counseling and avoidance of precipitating factors. Here, we report the identification of 40 novel HMBS mutations, including 11 missense, four nonsense, 16 small insertions or deletions, eight consensus splice site mutations, and a complex insertion-deletion mutation in unrelated individuals with AIP...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29557620/-congenital-erythropoietic-porphyria-case-report-and-management-recommendations
#13
Claudia Salomone B, Isabel Ogueta C, Carlos Reyes V, Gloria Durán S, Noemí Aguirre, Angélica Wietstruck
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29553924/porphyria-what-is-it-and-who-should-be-evaluated
#14
Yonatan Edel, Rivka Mamet
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Other symptoms which could appear include hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms...
April 19, 2018: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/29540448/porphyria-often-discussed-but-too-often-missed
#15
REVIEW
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
https://www.readbyqxmd.com/read/29516487/diagnosing-diabetes-mellitus-in-patients-with-porphyria-cutanea-tarda
#16
REVIEW
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
https://www.readbyqxmd.com/read/29516370/novel-mutation-of-ppox-gene-in-a-patient-with-abdominal-pain-and-syndrome-of-inappropriate-antidiuresis
#17
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
https://www.readbyqxmd.com/read/29515921/acute-primary-adrenal-insufficiency-after-hip-replacement-in-a-patient-with-acute-intermittent-porphyria
#18
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
https://www.readbyqxmd.com/read/29498764/recurrent-attacks-of-acute-hepatic-porphyria-major-role-of-the-chronic-inflammatory-response-in-the-liver
#19
C Schmitt, H Lenglet, A Yu, C Delaby, A Benecke, T Lefebvre, P Letteron, V Paradis, S Wahlin, S Sandberg, P Harper, E Sardh, A K Sandvik, J R Hov, A K Aarsand, L Chiche, C Bazille, J-Y Scoazec, J To-Figueras, M Carrascal, J Abian, A Mirmiran, Z Karim, J-C Deybach, H Puy, K Peoc'h, H Manceau, L Gouya
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disorder of haem 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
https://www.readbyqxmd.com/read/29478606/neuropathy
#20
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
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