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https://www.readbyqxmd.com/read/29338831/diagnosis-and-treatment-of-acute-intermittent-porphyria
#1
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
https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#2
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
https://www.readbyqxmd.com/read/29327901/porphyria
#3
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
https://www.readbyqxmd.com/read/29327900/porphyria
#4
Daniel A Jaramillo-Calle
No abstract text is available yet for this article.
November 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29327899/porphyria
#5
Siddharth Sood, Nicholas Mingos, Gayle Ross
No abstract text is available yet for this article.
November 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29317194/validation-and-evaluation-of-two-porphobilinogen-deaminase-activity-assays-for-diagnosis-of-acute-intermittent-porphyria
#6
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
https://www.readbyqxmd.com/read/29306617/perioperative-challenges-in-liver-transplantation-for-a-patient-with-acute-intermittent-porphyria
#7
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
https://www.readbyqxmd.com/read/29296735/effects-of-hemin-and-hemodialysis-in-a-patient-with-acute-intermittent-porphyria-and-renal-failure
#8
Shirin Attarian, Chunli Yu, Karl E Anderson, Ellen W Friedman
Hemin and hemodialysis had an additive effect in decreasing ALA and PBG in our patient with acute intermittent porphyria and renal failure.The time course of ALA and PBG reaccumulation after hemodialysis is not known.
June 13, 2017: Blood Advances
https://www.readbyqxmd.com/read/29285091/treatment-of-acute-intermittent-porphyria-during-pregnancy-and-posterior-reversible-encephalopathy-syndrome-after-delivery-a-case-report
#9
Jian Zhang, Yiting Hu, Jimin Zheng, Juncha Gao, Hongtao Hou, Na Liu, Yuzhen Wang
Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks. The present report describes the case of a pregnant woman with AIP. The patient was treated with heme-arginate during pregnancy and successfully delivered a healthy baby. Following delivery, the patient presented with PRES and experienced generalized seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29192381/abcb6-an-abc-transporter-impacting-drug-response-and-disease
#10
Rebba C Boswell-Casteel, Yu Fukuda, John D Schuetz
Recent findings have discovered how insufficiency of ATP-binding cassette (ABC) transporter, ABCB6, can negatively impact human health. These advances were made possible by, first, finding that ABCB6 deficiency was the genetic basis for some severe transfusion reactions and by, second, determining that functionally impaired ABCB6 variants enhanced the severity of porphyria, i.e., diseases associated with defects in heme synthesis. ABCB6 is a broad-spectrum porphyrin transporter that is capable of both exporting and importing heme and its precursors across the plasma membrane and outer mitochondrial membrane, respectively...
November 30, 2017: AAPS Journal
https://www.readbyqxmd.com/read/29166231/porphyria
#11
(no author information available yet)
New England Journal of Medicine, Volume 377, Issue 21, Page 2100-2101, November 2017.
November 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#12
REVIEW
Robert Dawe
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29128804/hexachlorobenzene-as-a-persistent-organic-pollutant-toxicity-and-molecular-mechanism-of-action
#13
REVIEW
Beata Starek-Świechowicz, Bogusława Budziszewska, Andrzej Starek
Hexachlorobenzene (HCB) is an organochlorine pesticide widely distributed in the environment. Chronic exposure of humans to HCB leads to a number of effects, such as triggering of porphyria, microsomal enzyme induction, thyroid dysfunctions, neurological symptoms, and immunological disorders. In animals, HCB induced hepatic porphyria, neurotoxic effects, and toxic effects on the thyroid function, reproductive system, and immune system. HCB as a dioxin-like compound and a weak ligand of the aryl hydrocarbon receptor (AhR) is a hormonal disruptor...
July 1, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29097018/antiepileptic-drugs-and-liver-disease
#14
REVIEW
Jorge Vidaurre, Satya Gedela, Shannon Yarosz
Acute, symptomatic seizures or epilepsy may complicate the course of hepatic disease. Choosing the most appropriate antiepileptic drug in this setting represents a difficult challenge, as most medications are metabolized by the liver. This article focuses on the acute and chronic treatment of seizures in patients with advanced liver disease and reviews the hepatotoxic potential of specific antiepileptic drugs. Newer antiepileptic drugs without, or with minimal, hepatic metabolism, such as levetiracetam, lacosamide, topiramate, gabapentin, and pregabalin should be used as first-line therapy...
September 22, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29094055/effect-of-menstrual-cycle-on-acute-intermittent-porphyria
#15
V R Souza Júnior, V M V Lemos, I M L Feitosa, R Florencio, C W B Correia, L B Correia Fontes, M F Hazin Costa, M C B Correia
A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29091216/resolution-of-porphyria-cutanea-tarda-in-hiv-and-mixed-hcv-coinfection-after-direct-acting-antiviral-daa-therapy
#16
B Bruzzone, O Magnani, L Sticchi, P Canepa, E Rappazzo, G Icardi, M Setti
No abstract text is available yet for this article.
October 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28990424/an-inducible-promoter-responsive-to-different-porphyrinogenic-stimuli-improves-gene-therapy-vectors-for-acute-intermittent-porphyria
#17
Irantzu Serrano, Ana Sampedro, Manuel Alegre, Rafael Enriquez de Salamanca, Pedro Berraondo, Antonio Fontanellas
Porphobilinogen deaminase (PBGD)-gene therapy represents a promising therapeutic option for acute intermittent porphyria (AIP) patients suffering recurrent acute attacks. The first-in-human phase 1 clinical trial confirmed the safety and tolerability of AAV-AAT-PBGD gene therapy but higher doses and/or more efficient vectors are needed to achieve therapeutic expression of the transgene. We assayed the insertion into the promoter of a short enhancer element able to induce transgene expression during the exposure to endogenous and exogenous stimuli related to the pathology of the disease...
October 7, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28988019/acute-intermittent-porphyria-after-right-hemi-colectomy
#18
Shadi Alshammary, Reem Al Dulaijan, Khaldoon Saleh, Hazem Zakaria, Ahmed Eldamati, Norah Alwakeel, Abdulmohsen Al-Mulhim
INTRODUCTION: Acute intermittent porphyria is a rare autosomal dominant metabolic disease. It is caused by a genetic mutation that results in deficiency of porphobilinogen deaminase enzyme, the third enzyme in heme biosynthesis. Acute intermittent porphyria precipitated by surgery is very rare. CASE PRESENTATION: We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28987047/-epidemiology-and-risk-factors-of-hepatocellular-carcinoma
#19
REVIEW
Agnieszka Budny, Piotr Kozłowski, Marzena Kamińska, Małgorzata Jankiewicz, Agnieszka Kolak, Bożena Budny, Witold Budny, Joanna Niemunis-Sawicka, Grzegorz Szczypiór, Bartosz Kurniawka, Franciszek Burdan
Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. It also varies significantly depending on the geographic location. The main factors that cause HCC are infection of HBV and HCV, whose genome integrates into the DNA of the host, causing mutations. The other factors include excessive alcohol consumption, contact or consumption of Aspergillus toxins as well as various metabolic disorders, such as α1-antitrypsin deficiency, hemochromatosis, tyrosinemia, porphyria, von Gierke disease and in person with gene mutation p...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28984284/acute-pancreatitis-due-to-an%C3%A2-attack-of-acute-intermittent-porphyria
#20
Anna Matyjek, Przemysław Dyrla, Jerzy Gil, Piotr Gietka, Arkadiusz Lubas, Marek Saracyn
No abstract text is available yet for this article.
September 29, 2017: Polish Archives of Internal Medicine
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