461 results match your criteria Variegate Porphyria


Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

Cureus 2018 Sep 24;10(9):e3351. Epub 2018 Sep 24.

Orthopaedics, Dow University of Health Sciences, Karachi, PAK.

Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. Read More

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September 2018
1 Read

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain. Electronic address:

Porphyrias are rare diseases caused by alterations in the heme biosynthetic pathway. Depending on the afected enzyme, porphyrin precursors or porphyrins are overproduced, causing acute neurovisceral attacks or dermal photosensitivity, respectively. Hereditary Coproporphyria (HCP) and Variegate Porphyria (VP) are mixed porphyrias since they can present acute and/or cutaneous symptoms. Read More

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November 2018
1 Read

Crosstalks between mTORC1 and mTORC2 variagate cytokine signaling to control NK maturation and effector function.

Nat Commun 2018 11 19;9(1):4874. Epub 2018 Nov 19.

Institute of Materia Medica, College of Pharmacy, Army Medical University (Third Military Medical University), 30# Gaotanyan Road, Shapingba District, Chongqing, 400038, China.

The metabolic checkpoint kinase mechanistic/mammalian target of rapamycin (mTOR) regulates natural killer (NK) cell development and function, but the exact underlying mechanisms remain unclear. Here, we show, via conditional deletion of Raptor (mTORC1) or Rictor (mTORC2), that mTORC1 and mTORC2 promote NK cell maturation in a cooperative and non-redundant manner, mainly by controlling the expression of Tbx21 and Eomes. Intriguingly, mTORC1 and mTORC2 regulate cytolytic function in an opposing way, exhibiting promoting and inhibitory effects on the anti-tumor ability and metabolism, respectively. Read More

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November 2018
1 Read

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Mol Genet Metab 2018 Oct 9. Epub 2018 Oct 9.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, HUPNVS Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Laboratory of Excellence Gr-Ex, France; Université Paris Diderot, UFR de Médecine Xavier Bichat, F-75018 Paris, France.

Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP). These diseases have been identified as risk factors for primary liver cancers (PLC), mainly hepatocellular carcinoma (HCC: range 87-100%) but also cholangiocarcinoma, alone or combination with HCC. Read More

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October 2018
7 Reads
2.625 Impact Factor

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Mol Genet Metab 2018 Oct 26. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP). AIP, HCP, VP, and ADP each results from loss-of-function (LOF) mutations in their disease-causing genes: hydroxymethylbilane synthase (HMBS); coproporphyrinogen oxidase (CPOX); protoporphyrinogen oxidase (PPOX), and δ-aminolevulinic acid dehydratase (ALAD), respectively. During the 11-year period from January 1, 2007 through December 31, 2017, the Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 315 unrelated AIP individuals with HMBS mutations, including 46 previously unreported mutations, 29 unrelated HCP individuals with CPOX mutations, including 11 previously unreported mutations, and 54 unrelated VP individuals with PPOX mutations, including 20 previously unreported mutations. Read More

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October 2018
7 Reads

Ectoparasitism in Black-and-White Ruffed Lemurs ( Varecia variegata) in Southeastern Madagascar.

J Wildl Dis 2018 Aug 10. Epub 2018 Aug 10.

3 Department of Anthropology, Hunter College of City University of New York, 695 Park Avenue, New York, New York 10065, USA.

We documented ectoparasites found on wild black-and-white ruffed lemurs ( Varecia variegate) in the southeastern rain forests of Madagascar and describe trends in parasitism. In this study, 235 mesostigmatic mites (1 male, 87 females, 147 nymphs) identified as Liponyssella sp., in the acarine family Macronyssidae, were collected during 87% (34/39) of lemur examinations (mean number/host=7. Read More

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August 2018
1 Read

Cryptides: latent peptides everywhere.

Crit Rev Biochem Mol Biol 2018 Jun 22;53(3):246-263. Epub 2018 Mar 22.

c Dipartimento di Scienze della Vita e dell'Ambiente , Università di Cagliari , Cagliari , Italy.

Proteomic surveys with top-down platforms are today revealing thousands of naturally occurring fragments of bigger proteins. Some of them have not functional meaning because they derive from pathways responsible for protein degradation, but many have specific functions, often completely different from that one of the parent proteins. These peptides encrypted in the protein sequence are nowadays called cryptides. Read More

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June 2018
4 Reads

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

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. Read More

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April 2018
5 Reads

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Endocrine 2018 09 7;61(3):403-406. Epub 2018 Mar 7.

Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy.

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. Read More

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September 2018
3 Reads

Elucidating Bauhinia variegata lectin/phosphatidylcholine interactions in lectin-containing liposomes.

J Colloid Interface Sci 2018 Jun 24;519:232-241. Epub 2018 Feb 24.

Universidade do Extremo Sul Catarinense - UNESC, Av. Universitária 1105, CEP 88806-000 Criciúma, SC, Brazil. Electronic address:

Investigations focused on the interactions of nanoparticles with lectins are relevant since it is well accepted that such proteins can be recognized by carbohydrates as parts of cell membranes. This can ultimately enhance the cellular uptake of the produced assemblies. In this framework, the physical interactions of phosphatidylcholine (PC) liposomes and the Bauhinia variegate lectin (BVL) are reported here. Read More

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June 2018
6 Reads

The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer.

Genetics 2018 03 26;208(3):951-961. Epub 2017 Dec 26.

Department of Biology, University of Bari Aldo Moro, 70125 Italy.

Genome amplification in the form of rings or giant rod-shaped marker chromosomes (RGMs) is a common genetic alteration in soft tissue tumors. The mitotic stability of these structures is often rescued by perfectly functioning analphoid neocentromeres, which therefore significantly contribute to cancer progression. Here, we disentangled the genomic architecture of many neocentromeres stabilizing marker chromosomes in well-differentiated liposarcoma and lung sarcomatoid carcinoma samples. Read More

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March 2018
15 Reads

mRNA Traffic Control Reviewed: N6-Methyladenosine (m A) Takes the Driver's Seat.

Bioessays 2018 Jan 4;40(1). Epub 2017 Dec 4.

Department of Microbiology and Cell Biology, Indian Institute of Science, Bangalore, 560012, India.

Messenger RNA is a flexible tool box that plays a key role in the dynamic regulation of gene expression. RNA modifications variegate the message conveyed by the mRNA. Similar to DNA and histone modifications, mRNA modifications are reversible and play a key role in the regulation of molecular events. Read More

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January 2018
31 Reads

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

F1000Res 2017 30;6:1906. Epub 2017 Oct 30.

Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

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. Read More

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October 2017
14 Reads

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Background: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

Methods: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Read More

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December 2017
33 Reads

Giant Conjunctival Nevus in a 12-Year-Old Child.

Case Rep Ophthalmol Med 2017 23;2017:8414352. Epub 2017 Aug 23.

Department of Pathology, University of Szeged, 2 Állomas Street, Szeged 6725, Hungary.

We describe a case of a giant conjunctival nevus presented in a 12-year-old girl with suspicious clinicomorphological appearance. The lesion was noticed by the parents at the age of 3 years as a "fleshy spot" on the bulbar conjunctiva. The lesion remained unchanged until approx. Read More

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August 2017
2 Reads

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.

J Dermatol 2017 Dec 22;44(12):e317-e318. Epub 2017 Jul 22.

Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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December 2017
6 Reads

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

J Intern Med 2017 09 20;282(3):229-240. Epub 2017 Jul 20.

Centre for Disease Burden, Domain for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.

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. Read More

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September 2017
19 Reads

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Ann Intern Med 2017 08 27;167(3):159-169. Epub 2017 Jun 27.

From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.

Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.

Design: Pilot randomized trial. Read More

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August 2017
101 Reads

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

Clin J Sport Med 2017 Jul;27(4):e58-e59

UBMD Orthopaedics & Sports Medicine Department, University at Buffalo.

Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Read More

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July 2017
9 Reads

A Rare Case of Misdiagnosed Silent Lung Cancer with Solitary Metastasis to the Temporomandibular Joint Condyle.

J Oral Facial Pain Headache 2017 Spring;31(2):180-185

This article describes the case history of a 59-year-old female patient who sought advice for temporomandibular joint (TMJ) pain and sounds but who was actually diagnosed with a primary lung cancer with metastasis to the TMJ. The patient had a history of TMJ pain and deflection in jaw movement that progressively worsened over a few months and did not improve with the usual standard of care treatment provided by an orofacial pain practitioner. Magnetic resonance and computed tomography (CT) prescribed at a tertiary clinic showed an osteolytic bone mass within the right TMJ condyle. Read More

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October 2017
7 Reads

Avoid missing a rare condition by colouring your judgment purple.

BMJ 2017 04 20;357:j1489. Epub 2017 Apr 20.

Department of dermatology, Heart of England NHS Foundation Trust, Birmingham, UK.

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April 2017
1 Read

Porphyria cutanea tarda: an intriguing genetic disease and marker.

Int J Dermatol 2017 Jun 21;56(6):e106-e117. Epub 2017 Mar 21.

Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. Read More

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June 2017
5 Reads

Models of amphibian myogenesis - the case of Bombina variegata.

Int J Dev Biol 2017 ;61(1-2):17-27

Department of Animal Developmental Biology, Institute of Experimental Biology, University of Wroclaw, Wroclaw, Poland.

Several different models of myogenesis describing early stages of amphibian paraxial myotomal myogenesis are known. Myoblasts of Xenopus laevis and Hymenochirus boettgeri change their position from perpendicular to parallel, in relation to axial organs, and differentiate into mononucleate myotubes. In Bombina variegate the myotomal myoblasts change their shape from round to elongate and then differentiate into mononuclear, morphologically mature myotubes. Read More

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February 2018

Peracute Bacterial Meningitis due to Infection with Klebsiella pneumoniae in Captive-bred Ruffed Lemurs (Varecia variegate).

J Comp Pathol 2017 Feb - Apr;156(2-3):281-285. Epub 2017 Feb 1.

Laboratory of Veterinary Pathology, School of Veterinary Medicine, Azabu University, 1-17-71 Fuchinobe, Chuo-ku, Kanagawa, Japan. Electronic address:

We describe the development of neurological signs in four juvenile black-and-white ruffed lemurs (Varecia variegate), housed at a petting zoo in Japan. The clinical course was severe, with three lemurs dying within 1 day of the appearance of clinical signs. The other lemur was treated and survived. Read More

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G-quadruplexes in human promoters: A challenge for therapeutic applications.

Biochim Biophys Acta Gen Subj 2017 May 24;1861(5 Pt B):1399-1413. Epub 2016 Dec 24.

Dept. of Pharmaceutical and Pharmacological Sciences, University of Padova, v. Marzolo, 5, 35131 Padova, Italy. Electronic address:

Background: G-rich sequences undergo unique structural equilibria to form G-quadruplexes (G4) both in vitro and in cell systems. Several pathologies emerged to be directly related to G4 occurrence at defined genomic portions. Additionally, G-rich sequences are significantly represented around transcription start sites (TSS) thus leading to the hypothesis of a gene regulatory function for G4. Read More

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May 2017
6 Reads

Update review of the acute porphyrias.

Br J Haematol 2017 02 16;176(4):527-538. Epub 2016 Dec 16.

Department of Haematological Medicine, King's College Hospital, London, UK.

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Read More

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February 2017
22 Reads

Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion.

J Clin Anesth 2016 Dec 11;35:114-117. Epub 2016 Aug 11.

Department and Clinic of Anesthesiology and Intensive Care, Wroclaw Medical University, Wrocław, Poland.

Porphyria is caused by disorders of enzymes that synthetize porphyrins. Both elective and emergency surgical procedures on patient suffering from porphyria may provoke acute symptoms. These patients require special anesthetic management since some of commonly used anesthetic agents may also induce acute manifestation of porphyria. Read More

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December 2016
6 Reads

Hepatic porphyria: A narrative review.

Indian J Gastroenterol 2016 Nov 31;35(6):405-418. Epub 2016 Oct 31.

Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.

Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Read More

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November 2016
18 Reads

Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.

J Emerg Med 2016 Nov 10;51(5):e115-e122. Epub 2016 Sep 10.

Department of Trauma and Emergency Surgery, King's College Hospital NHS Foundation Trust, London, UK.

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. Read More

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November 2016
14 Reads

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.

PLoS One 2016 27;11(10):e0164857. Epub 2016 Oct 27.

Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.

The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Read More

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June 2017
13 Reads

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.

Intern Med 2016;55(20):2965-2969. Epub 2016 Oct 15.

Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Japan.

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. Read More

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February 2017
11 Reads

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Blood Cells Mol Dis 2016 10 17;61:48-53. Epub 2016 Aug 17.

Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, U.O. di Medicina Interna, Milano, Italy. Electronic address:

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. Read More

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October 2016
32 Reads

Haplotype Study in Argentinean Variegate Porphyria Patients.

Hum Hered 2015 24;80(3):139-43. Epub 2016 May 24.

Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) CONICET, Hospital de Clx00ED;nicas Josx00E9; de San Martx00ED;n - UBA, Buenos Aires, Argentina.

Background/aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Read More

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October 2017
8 Reads

Acute variegate porphyria presenting with reversible cerebral vasoconstriction.

Clin Neurol Neurosurg 2016 Jul 6;146:102-4. Epub 2016 May 6.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

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July 2016
3 Reads

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.

Acta Derm Venereol 2016 Nov;96(7):868-872

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark.

Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. Read More

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November 2016
19 Reads

[Effect of cadmium stress on root vigor and accumulation of elements Ca, Mg, Mn, Zn, Fe in Salix variegate.]

Ying Yong Sheng Tai Xue Bao 2016 Apr;27(4):1109-1115

Key Laboratory of Eco-environment in the Three Gorges Reservoir Region of the Ministry of Education, College of Life Sciences, Southwest University, Chongqing 400715, China.

In order to explore the effect of cadmium stress on root vigor and accumulation of five kinds of conventional metal elements in Salix variegata, a hydroponic experiment with different cadmium treatments were conducted. The cadmium treatments included 0 mg·L (CK), 2 mg·L (T), 10 mg·L (T), 20 mg·L (T) and 50 mg·L (T). The root vigor and distribution of cadmium and five kinds of conventional metal elements (including Ca, Mg, Mn, Zn and Fe) in S. Read More

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First Evidence on the Role of Heavy Ion Irradiation of Meteorites and Formamide in the Origin of Biomolecules.

Orig Life Evol Biosph 2016 Nov 6;46(4):515-521. Epub 2016 Apr 6.

Dipartimento di Biologia e Biotecnologie "Charles Darwin", University Sapienza, Piazzale Aldo Moro 5, 00185, Rome, Italy.

Formamide (NHCHO) has been irradiated in condensed phase at 273 K by B-boron beams in the presence of powdered meteorites of the chondrite and stony-iron types. Relative to the controls (no radiation or no catalysis), a variegate panel of compounds was observed, including purine and pyrimidine nucleobases (uracil, cytosine, adenine, and guanine), nucleobase analogues, heterocycles, and carboxylic acids involved in metabolic pathways. The presence of amino imidazole carbonitrile (AICN), 4,6-diamino purine (4,6-DAP) and 2,4-diamino pyrimidine (2,4-DAPy) among the observed products suggests the occurrence of an unified mechanism based on the generation of radical cyanide species (•CN). Read More

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November 2016
5 Reads

Safe use of perampanel in a carrier of variegate porphyria.

Pract Neurol 2016 Jun 2;16(3):217-9. Epub 2016 Feb 2.

Department of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK Epilepsy Society, Chalfont St Peter, UK.

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June 2016
4 Reads

Severe porphyric neuropathy--importance of screening for porphyria in Guillain-Barré syndrome.

S Afr Med J 2015 Nov 20;106(1):44-7. Epub 2015 Nov 20.

Department of Neurology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa.

The hepatic porphyrias are a group of rare metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthesis pathway. In South Africa (SA), a high incidence of variegate porphyria (VP) is seen as a result of a founder effect, but acute intermittent porphyria (AIP) is also encountered. The development of acute neurovisceral attacks is related to environmental factors, including medications, hormones and diet. Read More

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November 2015
34 Reads

[Neurocutaneous porphyrias].

Authors:
J Frank

Hautarzt 2016 Mar;67(3):221-5

Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.

Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria. Read More

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March 2016
10 Reads

Characterisation of the flavin adenine dinucleotide binding region of protoporphyrinogen oxidase.

Biochem Biophys Rep 2015 Dec 29;4:306-311. Epub 2015 Oct 29.

Lennox Eales Porphyria Laboratories, Department of Medicine, University of Cape Town Medical School, K-floor, Old GSH Main Building, Observatory, Cape Town 7925, South Africa.

Protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the haem biosynthetic pathway catalysers the six electron oxidation of protoporphyrinogen-IX to protoporphyrin-IX, in the presence of flavin adenine dinucleotide (FAD) and oxygen. In humans, partial defects in PPOX result in variegate porphyria. In this study, the FAD binding region in PPOX was analysed by engineering and characterising a selection of mutant proteins. Read More

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December 2015
3 Reads

Catching Functional Modes and Structural Communication in Dbl Family Rho Guanine Nucleotide Exchange Factors.

J Chem Inf Model 2015 Sep 14;55(9):1878-93. Epub 2015 Sep 14.

Department of Life Sciences, University of Modena and Reggio Emilia , via Campi 103, 41125 Modena, Modena, Italy.

Computational approaches such as Principal Component Analysis (PCA) and Elastic Network Model-Normal Mode Analysis (ENM-NMA) are proving to be of great value in investigating relevant biological problems linked to slow motions with no demand in computer power. In this study, these approaches have been coupled to the graph theory-based Protein Structure Network (PSN) analysis to dissect functional dynamics and structural communication in the Dbl family of Rho Guanine Nucleotide Exchange Factors (RhoGEFs). They are multidomain proteins whose common structural feature is a DH-PH tandem domain deputed to the GEF activity that makes them play a central role in cell and cancer biology. Read More

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September 2015
3 Reads

"Real-life" treatment of chronic pain: Targets and goals.

Best Pract Res Clin Rheumatol 2015 Feb 20;29(1):111-9. Epub 2015 May 20.

Department of Medicine H, Soroka Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel; Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel. Electronic address:

Treating chronic pain is a complex challenge. While textbooks and medical education classically categorize pain as originating from peripheral (nociceptive), neuropathic, or centralized origins, in real life each and every patient may present a combination of various pain sources, types, and mechanisms. Moreover, individual patients may evolve and develop differing types of pain throughout their clinical follow-up, further emphasizing the necessity to maintain clinical diligence during the evaluation and follow-up of these patients. Read More

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February 2015
5 Reads

Acute Porphyrias.

J Emerg Med 2015 Sep 7;49(3):305-12. Epub 2015 Jul 7.

Department of Medicine, University of Connecticut, Farmington, Connecticut; Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.

Background: Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of delta-aminolevulinic acid (ALA) dehydratase (ALADP). Read More

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September 2015
10 Reads

Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals.

Toxicol Rep 2015 13;2:976-983. Epub 2015 Jul 13.

Department of Environmental Health Sciences, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.

Butafenacil is an herbicide that inhibits protoporphyrinogen oxidase (PPOX), an enzyme that catalyzes oxidation of protoporphyrinogen IX to protoporphyrin IX during chlorophyll and heme biosynthesis. Based on a high-content screen, we previously identified butafenacil as a potent inducer of anemia in zebrafish embryos. Therefore, the objective of this study was to begin investigating the utility of butafenacil as a positive control for identifying anemia- and variegate porphyria-inducing chemicals. Read More

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July 2015
6 Reads

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-26. Epub 2015 Jul 1.

Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston, Texas.

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), δ-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria (HEP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLP). Read More

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July 2015
25 Reads

Astrocyte physiopathology: At the crossroads of intercellular networking, inflammation and cell death.

Authors:
Daniela Rossi

Prog Neurobiol 2015 Jul 27;130:86-120. Epub 2015 Apr 27.

Laboratory for Research on Neurodegenerative Disorders, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10, 27100 Pavia, Italy. Electronic address:

Recent breakthroughs in neuroscience have led to the awareness that we should revise our traditional mode of thinking and studying the CNS, i.e. by isolating the privileged network of "intelligent" synaptic contacts. Read More

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July 2015
22 Reads

Meteorite-catalyzed syntheses of nucleosides and of other prebiotic compounds from formamide under proton irradiation.

Proc Natl Acad Sci U S A 2015 May 13;112(21):E2746-55. Epub 2015 Apr 13.

Istituto Pasteur-Fondazione Cenci Bolognetti, c/o Dipartimento di Biologia e Biotecnologie "Charles Darwin," Sapienza-Università di Roma, Rome 00185, Italy

Liquid formamide has been irradiated by high-energy proton beams in the presence of powdered meteorites, and the products of the catalyzed resulting syntheses were analyzed by mass spectrometry. Relative to the controls (no radiation, or no formamide, or no catalyst), an extremely rich, variegate, and prebiotically relevant panel of compounds was observed. The meteorites tested were representative of the four major classes: iron, stony iron, chondrites, and achondrites. Read More

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May 2015
5 Reads

The immunoprofile of interstitial Cajal cells within adenomyosis/endometriosis lesions.

Rom J Morphol Embryol 2015 ;56(1):133-8

Department of General Surgery, "Sf. Ioan" Emergency Clinical Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania;

Adenomyosis and endometriosis are lesions which have aroused the interest for the investigation of antibodies specific to the structures from the composition, but also for the cause behind the appearance of these lesions in completely different structures. The impact they have on fertility is not known entirely, for they are difficult to diagnose. Endometriosis causes infertility and it is a hard to treat lesion. Read More

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April 2016
2 Reads