Database : MEDLINE
Search on : Porphyrias [Words]
References found : 6787 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 679 go to page                         

  1 / 6787 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29516370
[Au] Autor:Tabaro I; Reimondo G; Osella G; Aurizi C; Caraci P; Barbieri L; Giachino DF; Sirchia F; Terzolo M
[Ad] Address:Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy.
[Ti] Title:Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
[So] Source:Endocrine;, 2018 Mar 07.
[Is] ISSN:1559-0100
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Syndrome of inappropriate antidiuresis (SIAD) was confirmed and measurement of urine porphobilinogen and delta-aminolevulinic acid disclosed the diagnosis of acute porphyria. The genetic analysis of PPOX gene was performed. METHODS: The entire coding sequence and exon/intron boundaries of PPOX gene were amplified in 5 different Polymerase Chain Reaction (PCR) fragments. In silico prediction of the pathogenicity of the mutation was determined by using different tools, Polyphen2, SNPs&GO, SNPs3D. RESULTS: The genetic analysis of PPOX gene revealed a novel missense variant c.1376 G > A (p.Cys459Tyr) in heterozygous state. The same variant was later found in one of her cousins with skin lesions and other three younger asymptomatic relatives. We provided evidence that this novel mutation is likely to be pathogenetic. CONCLUSIONS: Our case highlights the importance of considering VP in the differential diagnosis of SIAD and underlines the role of genetic screening in the management of such patients. The finding of a novel mutation of PPOX gene in our index case has allowed to recognize an affected family.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1007/s12020-018-1569-5

  2 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29478606
[Au] Autor:Pisciotta C; Shy ME
[Ad] Address:Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
[Ti] Title:Neuropathy.
[So] Source:Handb Clin Neurol;148:653-665, 2018.
[Is] ISSN:0072-9752
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. CMT is, however, an umbrella term that encompasses a wide variety of inherited sensory and/or motor neuropathies. The number of disease genes identified in CMT has expanded rapidly over the past few decades, making an accurate genetic diagnosis more challenging, although increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has increased our understanding of the disease and allowed the development of rational approaches to therapy. In this chapter, the authors review the clinical features of CMT, suggest genetic testing strategies, and provide an update on new-generation sequencing techniques in inherited neuropathies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process

  3 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29182253
[Au] Autor:Jaramillo-Calle DA
[Ad] Address:Institucion Prestadora de Servicios de Salud­Universitaria Universidad de Antioquia, Medellin, Colombia daniel.jaramillo2@udea.edu.co
[Ti] Title:Porphyria.
[So] Source:N Engl J Med;377(21):2100-1, 2017 11 23.
[Is] ISSN:1533-4406
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Porphyria Cutanea Tarda
Porphyrias
[Pt] Publication type:LETTER; COMMENT
[Em] Entry month:1711
[Cu] Class update date: 171130
[Lr] Last revision date:171130
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171129
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1712682

  4 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29182251
[Au] Autor:Sood S; Mingos N; Ross G
[Ad] Address:University of Melbourne, Melbourne, VIC, Australia
[Ti] Title:Porphyria.
[So] Source:N Engl J Med;377(21):2100, 2017 11 23.
[Is] ISSN:1533-4406
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Porphyria Cutanea Tarda
Porphyrias
[Pt] Publication type:LETTER; COMMENT
[Em] Entry month:1711
[Cu] Class update date: 171130
[Lr] Last revision date:171130
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171129
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1712682

  5 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29152226
[Au] Autor:Dawe R
[Ad] Address:Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.
[Ti] Title:An overview of the cutaneous porphyrias.
[So] Source:F1000Res;6:1906, 2017.
[Is] ISSN:2046-1402
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. The single commonest cutaneous porphyria in most parts of the world is acquired porphyria cutanea tarda, which is usually due to chronic liver disease and liver iron overload. The next most common cutaneous porphyria, erythropoietic protoporphyria, is an inherited disorder in which the accumulation of bile-excreted protoporphyrin can cause gallstones and, rarely, liver disease. Some of the porphyrias that cause blistering (usually bullae) and fragility (clinically and histologically identical to porphyria cutanea tarda) can also be associated with acute neurovisceral porphyria attacks, particularly variegate porphyria and hereditary coproporphyria. Management of porphyria cutanea tarda mainly consists of visible-light photoprotection measures while awaiting the effects of treating the underlying liver disease (if possible) and treatments to reduce serum iron and porphyrin levels. In erythropoietic protoporphyria, the underlying cause can be resolved only with a bone marrow transplant (which is rarely justifiable in this condition), so management consists particularly of visible-light photoprotection and, in some countries, narrowband ultraviolet B phototherapy. Afamelanotide is a promising and newly available treatment for erythropoietic protoporphyria and has been approved in Europe since 2014.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171122
[Lr] Last revision date:171122
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.12688/f1000research.10101.1

  6 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28988019
[Au] Autor:Alshammary S; Dulaijan RA; Saleh K; Zakaria H; Eldamati A; Alwakeel N; Al-Mulhim A
[Ad] Address:Department of Surgery, King Fahd Hospital of the University, College of Medicine, University of Dammam, Dammam, Saudi Arabia.
[Ti] Title:Acute intermittent porphyria after right hemi-colectomy.
[So] Source:Int J Surg Case Rep;40:116-119, 2017.
[Is] ISSN:2210-2612
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase (HMBS) gene (c.760delC p Leu254). DISCUSSION: Acute intermittent porphyria is the most common and life threatining type of acute porphyrias. It is more common in women and usually presents after puberty with acute abdominal pain and diverse neuro-psychiatric manifestations that can be confused with several surgical and medical diseases. Acute intermittent porphyria after surgery is most likely due to postoperative pain and low-calorie intake. Once suspected, prompt ICU management including high calorie intake are necessary to avoid serious complications and mortality before starting definitive treatment with hematin. CONCLUSION: Acute intermittent porphyria should be suspected in any patient, particularly young women, who develop diverse neuro-visceral and psychiatric manifestations and hyponatremia after surgery.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171024
[Lr] Last revision date:171024
[St] Status:PubMed-not-MEDLINE

  7 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28874591
[Au] Autor:Yien YY; Ducamp S; van der Vorm LN; Kardon JR; Manceau H; Kannengiesser C; Bergonia HA; Kafina MD; Karim Z; Gouya L; Baker TA; Puy H; Phillips JD; Nicolas G; Paw BH
[Ad] Address:Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
[Ti] Title:Mutation in human elevates levels of aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
[So] Source:Proc Natl Acad Sci U S A;114(38):E8045-E8052, 2017 Sep 19.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We previously discovered that the mitochondrial AAA+ unfoldase ClpX promotes heme biosynthesis by activation of δ-aminolevulinate synthase (ALAS), which catalyzes the first step of heme synthesis. CLPX has also been reported to mediate heme-induced turnover of ALAS. Here we report a dominant mutation in the ATPase active site of human CLPX, p.Gly298Asp, that results in pathological accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Amassing of PPIX in erythroid cells promotes erythropoietic protoporphyria (EPP) in the affected family. The mutation in inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX. Our results thus identify an additional molecular mechanism underlying the development of EPP and further our understanding of the multiple mechanisms by which CLPX controls heme metabolism.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171007
[Lr] Last revision date:171007
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1700632114

  8 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28854095
[Au] Autor:Bissell DM; Anderson KE; Bonkovsky HL
[Ad] Address:From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).
[Ti] Title:Porphyria.
[So] Source:N Engl J Med;377(9):862-872, 2017 Aug 31.
[Is] ISSN:1533-4406
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Porphyria Cutanea Tarda
Porphyria, Acute Intermittent
Protoporphyria, Erythropoietic
[Mh] MeSH terms secundary: Female
Heme/biosynthesis
Hemin/therapeutic use
Humans
Male
Phlebotomy
Porphobilinogen/blood
Porphyria Cutanea Tarda/complications
Porphyria Cutanea Tarda/diagnosis
Porphyria Cutanea Tarda/therapy
Porphyria, Acute Intermittent/complications
Porphyria, Acute Intermittent/diagnosis
Porphyria, Acute Intermittent/therapy
Porphyrins/analysis
Prognosis
Protoporphyria, Erythropoietic/complications
Protoporphyria, Erythropoietic/diagnosis
Protoporphyria, Erythropoietic/therapy
RNA, Small Interfering/therapeutic use
Sunlight/adverse effects
Symptom Assessment
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Porphyrins); 0 (RNA, Small Interfering); 42VZT0U6YR (Heme); 743LRP9S7N (Hemin); 74KHC72QXK (Porphobilinogen)
[Em] Entry month:1709
[Cu] Class update date: 170906
[Lr] Last revision date:170906
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170831
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMra1608634

  9 / 6787 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28730628
[Au] Autor:Baravelli CM; Sandberg S; Aarsand AK; Nilsen RM; Tollånes MC
[Ad] Address:Norwegian Porphyria Centre (NAPOS), Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway.
[Ti] Title:Acute hepatic porphyria and cancer risk: a nationwide cohort study.
[So] Source:J Intern Med;282(3):229-240, 2017 Sep.
[Is] ISSN:1365-2796
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Acute hepatic porphyria (AHP) is considered to be a risk factor for primary liver cancer (PLC), but varying risk estimates have been published. OBJECTIVES: Our aim was to investigate the risk of PLC and other cancers in persons with AHP using a nationwide cohort design. Given that greater numbers of women than men tend to have manifest and more severe AHP, a further aim was to investigate sex differences in this risk. METHODS: The study sample consisted of all Norwegian residents aged 18 years or older during the period 2000-2011. Persons with AHP (n = 251) were identified through the Norwegian Porphyria Centre, and patients with a cancer diagnosis were identified by linkage to the Cancer Registry of Norway. RESULTS: For persons with AHP, the annual incidence rate of PLC was 0.35%. PLC risk was substantially higher for individuals with an AHP diagnosis compared to the reference population [adjusted hazard ratio (aHR) 108, 95% confidence interval (CI) 56-207]. In a meta-analysis of published studies on PLC and AHP, including ours, women had a higher risk than men. In addition, our results suggested that persons with AHP may have increased risks of kidney (aHR 7.4, 95% CI 2.4-23.1) and endometrial cancers (aHR 6.2, 95% CI 2.0-19.3). CONCLUSIONS: Our findings confirmed a substantially higher risk of PLC associated with AHP compared to the general population. In a meta-analysis, the risk was shown to be greater for women than men. The novel findings of a moderate to substantial association between AHP and kidney and endometrial cancers should be investigated further.
[Mh] MeSH terms primary: Endometrial Neoplasms/epidemiology
Kidney Neoplasms/epidemiology
Liver Neoplasms/epidemiology
Porphobilinogen Synthase/deficiency
Porphyrias, Hepatic/epidemiology
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Cohort Studies
Comorbidity
Female
Humans
Incidence
Male
Middle Aged
Norway/epidemiology
Risk Factors
Sex Distribution
Sex Factors
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Name of substance:EC 4.2.1.24 (Porphobilinogen Synthase)
[Em] Entry month:1709
[Cu] Class update date: 170911
[Lr] Last revision date:170911
[Js] Journal subset:IM
[Da] Date of entry for processing:170722
[St] Status:MEDLINE
[do] DOI:10.1111/joim.12646

  10 / 6787 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 28695690
[Au] Autor:Olivier P; Van Melkebeke D; Honoré PJ; Defreyne L; Hemelsoet D
[Ad] Address:Ghent University Hospital, Ghent, Belgium.
[Ti] Title:Cerebral vasospasm in acute porphyria.
[So] Source:Eur J Neurol;24(9):1183-1187, 2017 Sep.
[Is] ISSN:1468-1331
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Furthermore we performed a systematic review by searching the electronic database Pubmed/MEDLINE for additional data in published studies of vasospasm in acute porphyria. RESULTS: Overall, 9 case reports reporting on 11 patients who suffered vasospasm during an exacerbation of acute porphyria were identified. All of the reported patients were women and the mean age was 29.4 years. When brain MRI was performed, T2-hyperintense lesions, consistent with ischaemic changes, were observed in most patients (10/11, 91%). Although the genetic pathogenesis of the disease is well understood, the precise mechanisms to explain neurologic involvement in acute porphyria remain unclear. CONCLUSION: Acute porphyria is an unusual and rare cause of vasospasm. However, considering porphyria in patients with unexplained cerebral vasospasm, especially in women of childbearing age, is crucial given the severity of possible complications and the available treatment options.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170814
[Lr] Last revision date:170814
[St] Status:In-Process
[do] DOI:10.1111/ene.13347


page 1 of 679 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information