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Sample records for acute intermittent porphyria

  1. Feigning Acute Intermittent Porphyria

    Rania Elkhatib; Modupe Idowu; Gregory S. Brown; Jaber, Yasmeen M.; Reid, Matthew B.; Cheryl Person

    2014-01-01

    Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning this illness has not been reported in the English language literature to date. Here, we report on a patient who presented to the hospital with an acute attack of porphyria requesting opiates. Diligent assessment of extensive prior treatment r...

  2. Acute Intermittent Porphyria (AIP)

    ... sold as Panhematin ® , from Recordati Rare Diseases. Most hospitals do not stock it. Therefore the pharmacy must be notified at the time the patient’s ... the Acute Porphyrias - Clarification of Testing Results** Important Update ... & Immunology, University Hospital of Wales, for assistance in the preparation of ...

  3. Autonomic neuropathy in acute intermittent porphyria.

    Laiwah, A C; Macphee, G. J.; P Boyle; Moore, M R; Goldberg, A

    1985-01-01

    Autonomic function was assessed in subjects with acute intermittent porphyria and age- and sex-matched controls using five different bedside tests of cardiovascular reflexes. During the acute attack both parasympathetic and sympathetic tests were impaired, but subsequently improved during remission. Early parasympathetic dysfunction was also detected during remission and in latent asymptomatic acute intermittent porphyria.

  4. Cardiac calcification in acute intermittent porphyria

    Tanmoy Ghatak

    2011-01-01

    Full Text Available Aetiology of pericardial calcifications can be multifactorial. Tuberculosis has been reported as the most common cause. Other known causes include uraemia, asbestosis, post-traumatic or postoperative. We report a rare case of pericardial calcification seen in a patient with established acute intermittent porphyria. A direct causal relationship cannot be established between porphyria and pericardial calcification, but it may be due to deposition of the porphyrin in the pericardium.

  5. Cardiac calcification in acute intermittent porphyria

    Tanmoy Ghatak; Afzal Azim; Arvind K Baronia; Banani Poddar

    2011-01-01

    Aetiology of pericardial calcifications can be multifactorial. Tuberculosis has been reported as the most common cause. Other known causes include uraemia, asbestosis, post-traumatic or postoperative. We report a rare case of pericardial calcification seen in a patient with established acute intermittent porphyria. A direct causal relationship cannot be established between porphyria and pericardial calcification, but it may be due to deposition of the porphyrin in the pericardium.

  6. Acute intermittent porphyria in the puerperium

    Sparić Radmila

    2010-01-01

    Full Text Available Introduction. Acute intermittent porphyria emerges as a result of partial defect of porphobilinogen deaminase and is manifested by repeated episodes of somatic, psychiatric and neurological disorders. The disease is conducted via the autosomaldominant gene of variable penetration, so most of the carriers never experience seizures. Timely making of diagnosis, screening of blood relatives of the patient and education of patients on avoidance of provoking factors are the key to adequate treatment. Case Outline. A 23-year-old patient having born the third child was hospitalized due to pains in the abdomen and convulsive seizures nine days after the vaginal delivery. At admittance, she suffered a generalized convulsive seizure of clonic-tonic type. The patient immediately underwent a complete clinical, laboratory, bacteriological and ultrasound examination. Bearing in mind the fact that the patient had several convulsive seizures even after the given neurological therapy, haem-arginate was introduced into therapy during four days. The administration of haem-arginate led to the normalization of blood pressure, pulse and bowel function. The administration of haem-arginate led to the normalization of blood pressure, pulse and bowel function. The patient was treated by a team of doctors, in the intensive care ward, with the use of medicaments, which are allowed in the case of acute porphyria. Sixteen days after the admittance, with clean neurological status and gynaecological and ultra-sound findings, she was released for ambulatory treatment. Conclusion. The presented case exhibits the gravity of making a diagnosis of acute intermittent porphyria in puerperium and the necessity of multi-disciplinary approach in treating this disease. Acute intermittent porphyria should be considered in cases of ambiguous abdominal pain, as well as in patients having abdominal pains followed by neuro-psychiatric disorders.

  7. Post- Partum Acute Intermittent Porphyria - A Case Report

    Gaurav Tomar

    2010-02-01

    Full Text Available Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric manifestations. Proper management will dramatically improve the outcome in this otherwise debilitating and potentially life-threatening disease.

  8. Post- Partum Acute Intermittent Porphyria - A Case Report

    Gaurav Tomar; Ashish Sethi; TC Kriplani; Neeraj Narang

    2010-01-01

    Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric manifestations. Proper management will dramatically improve the outcome in this otherwise debilitating and potentially life-threatening disease.

  9. Acute intermittent porphyria: Diagnosis per chance

    Soundravally R

    2008-10-01

    Full Text Available Objectives: To report a case of acute intermittent porphyria (AIP diagnosed by chance during routine investigations. Clinical Presentation and Intervention: A 21-year-old female presented with vague gastrointestinal symptoms. Upon admission, she was disoriented. Later she developed generalized seizures and was treated with phenytoin, but the condition worsened. Upon investigation, her liver function, renal function, blood sugar level and electrolytes were within normal limits. When kept for routine laboratory testing, the color change in urine prompted us to investigate for porphyria. It was positive for phorphobilinogen (PBG and urophorphyrin. Since AIP had been diagnosed, the initial treatment with phenytoin was discontinued with a favorable outcome. A screening test for PBG in urine by Ehrlich′s reagent was performed on the patient′s mother and was positive. Conclusion: A high degree of suspicion at the laboratory can also determine the diagnosis of AIP, which is often missed by the clinician.

  10. Epidemiological, clinical anf pathogenetic studies of acute intermittent porphyria

    Bylesjö, Ingemar

    2008-01-01

    Porphyrias are inherited metabolic disorders characterised by an impairment of heme biosynthesis. Acute intermittent porphyria (AIP) is the most common of the acute porphyrias in Sweden. Acute attacks of AIP are characterised by neuro-psychiatric symptoms, including epileptic seizures. Environmental and acquired factors are related to the induction of symptoms. Acute attacks of AIP are treated with high doses of glucose and/or hematin infusions. The pathogenesis of the neuro-psychiatric sympt...

  11. Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

    Mayra Gonçalves Menegueti; Alkmim-Teixeira Gil Cezar; Karin Aparecida Casarini; Kátia Simone Muniz Cordeiro; Anibal Basile-Filho; Olindo Assis Martins-Filho; Maria Auxiliadora-Martins

    2011-01-01

    Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroen...

  12. Acute intermittent porphyria, women and sex hormones. Screening for hepatocellular carcinoma in porphyria

    Innala, Eva

    2010-01-01

    Background:   Porphyrias are inherited disorders with impaired heme biosynthesis. Acute intermittent porphyria (AIP) is the most common porphyria in Sweden. AIP attacks may be life-threatening. Female sex hormones are regarded as important precipitating factors. Hepatocellular carcinoma (HCC) is a severe complication in the older AIP population. The aim of the thesis was to describe the clinical expression of AIP in women, experience of hormonal contraception and hormonal replacement therapie...

  13. Differential diagnosis of acute abdominal pain – acute intermittent porphyria

    Mislav Klobučić; Duška Šklebar; Renata Ivanac; Dragica Vrabec Matković; Anita Jug-Klobučić; Ivan Šklebar

    2011-01-01

    Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days be...

  14. Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

    Mayra Gonçalves Menegueti

    2011-01-01

    Full Text Available Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroenterological disorders on patients whose routine investigation tests are normal, especially when precipitating factors exist. Intensive care measures and a multidisciplinary team approach are essential.

  15. Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach.

    Menegueti, Mayra Gonçalves; Gil Cezar, Alkmim-Teixeira; Casarini, Karin Aparecida; Muniz Cordeiro, Kátia Simone; Basile-Filho, Anibal; Martins-Filho, Olindo Assis; Auxiliadora-Martins, Maria

    2011-01-01

    Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroenterological disorders on patients whose routine investigation tests are normal, especially when precipitating factors exist. Intensive care measures and a multidisciplinary team approach are essential. PMID:21687623

  16. Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

    Menegueti, Mayra Gonçalves; Gil Cezar, Alkmim-Teixeira; Casarini, Karin Aparecida; Muniz Cordeiro, Kátia Simone; Basile-Filho, Anibal; Martins-Filho, Olindo Assis; Auxiliadora-Martins, Maria

    2011-01-01

    Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroenterological disorders on patients whose routine investigation tests are normal, especially when precipitating factors exist. Intensive care measures and a multidisciplinary team approach are essential. PMID:21687623

  17. Acute intermittent porphyria: Diagnostic dilemma and treatment options

    Mohan Deep Kaur; Nita Hazarika; Namita Saraswat; Rajesh Sood

    2015-01-01

    Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage. We present here a case report of AIP where the diagnosis was missed. The diversity of symptoms and details concerning the treatment options for AIP are discussed.

  18. Differential diagnosis of acute abdominal pain – acute intermittent porphyria

    Mislav Klobučić

    2011-08-01

    Full Text Available Acute intermittent porphyria (AIP is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days between the first presentationto the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.

  19. Acute intermittent porphyria and pregnancy: an obstetric challenge

    Pragati Meena

    2016-02-01

    Full Text Available Acute intermittent porphyria is a rare autosomal dominant disease caused by a mutation in the gene coding for the porphobillinogen deaminase enzymes in heam biosynthesis. The disease manifests as acute attacks of neuropsychiatric dysfunction and neurovisceral manifestations presenting as acute abdomen. In pregnancy, 54% patient has exacerbation of attacks in the form of seizures and acute abdomen occurs due to hormonal changes. Prevalence of acute intermittent porphyria is 1-2/200000 in general. Here we report a case of 36 year old women, G4P1L2A2 presenting at 10+4 weeks of gestation requesting pregnancy termination. Patient was diagnosed as case of acute intermittent porphyria with porphyic polyneuropathy 6 months back. At that time her main symptoms were acute pain abdomen with numbness and weakness in all four limbs. Her urinary porphobillinogen and 5 ALA raised. Her CECT of brain and nerve conduction studies were normal. Since then she is on Tablet Gabapentin 300 mg H.S. She underwent successful pregnancy termination by suction and evacuation under spinal anesthesia and she refused for copper-T insertion. Only safe drugs were used for procedure and she was discharged with advice of barrier contraception. [Int J Reprod Contracept Obstet Gynecol 2016; 5(2.000: 542-544

  20. Late Acute Intermittent Porphyria Attack In A Patient With Type 2 Diabetes

    Toma Nicoleta; Stancu Maria M.; Savu Octavian

    2015-01-01

    Background. Acute intermittent porphyria (AIP) is a hereditary metabolic aberration resulting from a partial defect in the activity of the enzyme porphobilinogen deaminase (PBDG) during the course of haeme synthesis. Diabetic metabolism may attenuate the episodes of porphyria related symptoms.

  1. Communication with acute intermittent porphyria patients who have tracheostomy

    Sevda Arslan

    2013-07-01

    Full Text Available Objective: Introducing acute intermittent porphyria disease and investigating the communication techniques for acute intermittent porphyria patients who have tracheostomyCase Report: 26 years old woman patient consulted to the hospital when she was 13 years old with nausea and vomiting complaints. In 2008, because of respiratory arrest, tracheostomy was implemented to the patient who had acute intermittent porphyria diagnose. The patient had two bullous lesions on the left hand and hyperpigmentation’s on the face and legs. As a result of metabolic acidosis (because of urine disease, the patient was taken to dialysis. After six months of dialysis, hypernatremia was found in the laboratory tests (Na: 85.Period of acute crisis developed In the patient with hypertension, atrophy in the muscles, fainting, abdominal pain, nausea, vomiting and diarrhea. Because of serious diarrhea, TPN was started for the patient who was fed with gavage before. Laboratory test results are Na:126, K:8.1, BUN:23.83, Urine:51, Creatinine:0.94, Leukocyte:20.4, erytrocyte:2.22, Hb:6.87g/dl, Hct: %20.9, Plt:106. Result: It is really difficult to communicate with these patients with lifespan limited because of an extremely severe clinical condition and tracheostomy.

  2. Tissue-specific splicing mutation in acute intermittent porphyria

    An inherited deficiency of porphobilinogen deaminase in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a heterogeneous disease. It was previously demonstrated that porphobilinogen deaminase is encoded by two distinct mRNA species expressed in a tissue-specific manner. Analysis of the genomic sequences indicated that these two mRNAs are transcribed from two promoters and only differ in their first exon. The first mutation identified in the human porphobilinogen deaminase gene is a single-base substitution (G → A) in the canonical 5' splice donor site of intron 1. This mutation leads to a particular subtype of acute intermittent porphyria characterized by the restriction of the enzymatic defect to nonerythropoietic tissues. Hybridization analysis using olignonucleotide probes after in vitro amplification of genomic DNA offers another possibility of detecting asymptomatic carriers of the mutation in affected families

  3. Tissue-specific splicing mutation in acute intermittent porphyria

    Grandchamp, B.; Picat, C. (Laboratoire de Genetique Moleculaire, Paris (France)); Mignotte, V.; Romeo, P.H.; Goossens, M. (Institut National de la Sante et de la Recherche Medicale, Creteil (France)); Wilson, J.H.P.; Sandkuyl, L. (Erasmus Univ., Rotterdam (Netherlands)); Te Velde, K. (Saint Geertruiden Hospital, Deventer (Netherlands)); Nordmann, Y. (Hopital Louis Mourier, Colombes (France))

    1989-01-01

    An inherited deficiency of porphobilinogen deaminase in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a heterogeneous disease. It was previously demonstrated that porphobilinogen deaminase is encoded by two distinct mRNA species expressed in a tissue-specific manner. Analysis of the genomic sequences indicated that these two mRNAs are transcribed from two promoters and only differ in their first exon. The first mutation identified in the human porphobilinogen deaminase gene is a single-base substitution (G {yields} A) in the canonical 5{prime} splice donor site of intron 1. This mutation leads to a particular subtype of acute intermittent porphyria characterized by the restriction of the enzymatic defect to nonerythropoietic tissues. Hybridization analysis using olignonucleotide probes after in vitro amplification of genomic DNA offers another possibility of detecting asymptomatic carriers of the mutation in affected families.

  4. Liver transplantation for acute intermittent porphyria:a viable treatment?

    Faisal S Dar; Koji Asai; Ali Raza Haque; Thomas Cherian; Mohamed Rela; Nigel Heaton

    2010-01-01

    BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria. Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms. These symptoms result from the overproduction and accumulation of porphyrin precursors, 5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG). The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred. Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks. METHOD:Two cases of LT for AIP were identiifed retro-spectively from a prospectively maintained LT database. RESULT:LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks. CONCLUSION:LT can correct the underlying metabolic abnormality in AIP and improves quality of life signiifcantly.

  5. An update of clinical management of acute intermittent porphyria

    Pischik E

    2015-09-01

    Full Text Available Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St Petersburg, Russia Abstract: Acute intermittent porphyria (AIP is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis. It manifests with occasional neuropsychiatric crises associated with overproduction of porphyrin precursors, aminolevulinic acid and porphobilinogen. The clinical criteria of an acute attack include the paroxysmal nature and various combinations of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness, or mental symptoms, in the absence of other obvious causes. Intensive abdominal pain without peritoneal signs, acute peripheral neuropathy, and encephalopathy usually with seizures or psychosis are the key symptoms indicating possible acute porphyria. More than fivefold elevation of urinary porphobilinogen excretion together with typical symptoms of an acute attack is sufficient to start a treatment. Currently, the prognosis of the patients with AIP is good, but physicians should be aware of a potentially fatal outcome of the disease. Mutation screening and identification of type of acute porphyria can be done at the quiescent phase of the disease. The management of patients with AIP include following strategies: A, during an acute attack: 1 treatment with heme preparations, if an acute attack is severe or moderate; 2 symptomatic treatment of autonomic dysfunctions, polyneuropathy and encephalopathy; 3 exclusion of precipitating factors; and 4 adequate nutrition and fluid therapy. B, during remission: 1 exclusion of precipitating factors (education of patients and family doctors, 2 information about on-line drug lists, and 3 mutation screening for family members and education about precipitating factors in

  6. Antinuclear antibodies and the diagnosis of systemic lupus erythematosus in patients with acute intermittent porphyria.

    Allard, S A; Charles, P. J.; Herrick, A. L.; McColl, K E; Scott, J. T.

    1990-01-01

    To investigate the previously postulated association of systemic lupus erythematosus (SLE) and porphyria 38 patients with various types of porphyria were investigated for clinical and laboratory evidence of a connective tissue disease. Antinuclear antibodies (ANAs) were found in 8/15 (53%) patients with acute intermittent porphyria. These patients were more likely to have had a recent acute attack of porphyria, but only one patient had clinical evidence of SLE. Antinuclear antibodies were not...

  7. Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

    Andersen, Janice; Sandberg, Sverre; Raaheim, Maalfrid; Gjengedal, Eva

    2011-01-01

    Objective: The Norwegian Porphyria Centre routinely offers genetic counselling and predictive genetic testing in families diagnosed with porphyria. The aim of this study was to investigate the subjective experiences of adolescents and young adults who were genetically tested for acute intermittent porphyria (AIP) as minors. What were the psychosocial consequences and how were these handled?

  8. Red cell survival and sequestration in acute intermittent porphyria

    Life span and sequestration of red cells have been studied in twenty one proved cases of acute intermittent porphyria of different age and sex group from Bikaner District, Rajasthan State (India). Chromium-51 labelled red cells were used in the study and the excess count method of Bughe Jones and Szur was used to calculate the index of sequestration. The mean apparent half survival time of erythrocytes in the control subjects was 25.9 +- 2.9 (S.D.) days and the same in the prophyria patients was 27.0 +- 3.8 days. This shows that the life span of red cells is normal in both the patient and the control. Excess destruction of red blood cells was found to take place in either spleen or liver in the disease and no excess accumulation of erythrocytes occurred over spleen as compared to liver. (M.G.B.)

  9. Late Acute Intermittent Porphyria Attack In A Patient With Type 2 Diabetes

    Toma Nicoleta

    2015-06-01

    Full Text Available Background. Acute intermittent porphyria (AIP is a hereditary metabolic aberration resulting from a partial defect in the activity of the enzyme porphobilinogen deaminase (PBDG during the course of haeme synthesis. Diabetic metabolism may attenuate the episodes of porphyria related symptoms.

  10. Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity.

    Herrick, A. L.; McColl, K E; Moore, M R; Brodie, M J; Adamson, A R; Goldberg, A

    1989-01-01

    1. Acute intermittent porphyria (AIP) is sometimes termed a 'pharmacogenetic' disease. patients with genetic deficiency of the enzyme porphobilinogen deaminase are liable to develop acute attacks of porphyria if exposed to a variety of drugs. 2. Two patients are reported who had no evidence of deficiency of erythrocyte porphobilinogen deaminase yet developed typical attacks of AIP while on anticonvulsant therapy. 3. Normal activity of erythrocyte porphobilinogen deaminase does not completely ...

  11. Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyria.

    Valle Feijóo, M L; Bermúdez Sanjurjo, J R; González Vázquez, L; Rey Martínez, M; de la Fuente Aguado, J

    2015-01-01

    Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a woman with abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SIADH) as clinical presentation of AIP. The diagnosis was achieved through the etiologic study of the SIADH. PMID:25796467

  12. Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

    Alfadhel M

    2014-11-01

    Full Text Available Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi ArabiaBackground: Acute intermittent porphyria (AIP is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.Case report: We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.Conclusion: Clinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.Keywords: porphyria, cholecystitis, acute abdomen, acute intermittent porphyria, HMBS gene, hydroxymethylbilane synthase

  13. Anesthetic management of vaginal tear repair during early puerperium in a patient with acute intermittent porphyria

    Mahmood Ghazanwy

    2014-04-01

    Full Text Available A 26 year old female with history of acute intermittent porphyria (AIP was scheduled for vaginal tear repair after delivering her first baby. Raised blood pressure during her antenatal period was safely treated with α-methyl dopa. Her preoperative examination revealed no symptoms suggestive of acute exacerbation of AIP. Anesthesia was induced with fentanyl and propofol, and a proseal laryngeal mask airway (LMA was inserted and maintained with intermittent propofol and inhalation of isoflurane in nitrous oxide and oxygen. Her intraoperative and postoperative period remained uneventful.

  14. Acute intermittent porphyria presenting with neurological emergency: Review of six cases

    Kochar Dhanpat

    2007-01-01

    Full Text Available Acute intermittent porphyria presenting with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome during first attack is relatively uncommon. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. We report a series of six cases who presented with convulsion and/or polyneuropathy early in the course of disease to highlight this fact.

  15. Acute intermittent porphyria: comorbidity and shared familial risks with schizophrenia and bipolar disorder in Sweden.

    Cederlöf, Martin; Bergen, Sarah E; Larsson, Henrik; Landén, Mikael; Lichtenstein, Paul

    2015-12-01

    Acute intermittent porphyria (AIP) has been associated with schizophrenia in some studies, but prior research is limited by the absence of comparison populations. Here, we linked Swedish registers to examine the risk of schizophrenia and bipolar disorder in 717 individuals diagnosed with AIP and their first-degree relatives, compared with matched individuals without AIP and their first-degree relatives. Individuals with AIP had a fourfold increased risk of schizophrenia or bipolar disorder. Similarly, relatives of individuals with AIP had double the risk of schizophrenia or bipolar disorder, suggesting that these associations may be as a result of common genetic influences. PMID:26494868

  16. Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria.

    Saberi, Kianoush; Salehi, Mehrdad; Rahmanian, Mehrzad; Bakhshandeh, Ali Reza; Mahlabani, Mohammad

    2016-01-01

    Facing a patient with acute intermittent porphyria (AIP), there is narrow safety margin which circumscribe all the therapeutic actions including choice of drugs. This would become even more complicated when it comes to a stressful and drug-dependent process like a cardiopulmonary bypass. According to author's researches, no specific AIP case of tricuspid valve (TV) replacement is reported recently. Furthermore, fast-track anesthesia was safely used in this 37-year-old male known the case of AIP, who was a candidate for TV replacement and removing the port catheter. The patient was extubated subsequently, only 3 h after entering the Intensive Care Unit. PMID:27052088

  17. Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria

    Kianoush Saberi

    2016-01-01

    Full Text Available Facing a patient with acute intermittent porphyria (AIP, there is narrow safety margin which circumscribe all the therapeutic actions including choice of drugs. This would become even more complicated when it comes to a stressful and drug-dependent process like a cardiopulmonary bypass. According to author′s researches, no specific AIP case of tricuspid valve (TV replacement is reported recently. Furthermore, fast-track anesthesia was safely used in this 37-year-old male known the case of AIP, who was a candidate for TV replacement and removing the port catheter. The patient was extubated subsequently, only 3 h after entering the Intensive Care Unit.

  18. A family with accute intermittent porphyria

    Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms. There are seven main types of porphyrias, acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric, congenital erythropoietic porphyria, porphyria cutanea tarda and erythropoietic protoporphyria have predominantly cutaneous manifestations and hereditary coproporphyria and variegate porphyria are classified as mixed as they both have neuropsychiatric and cutaneous features. They cause life-threatening attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric conditions. Lack of clinical recognition often delays effective treatment and inappropriate diagnostic tests may lead to misdiagnosis and inappropriate treatment. Although the specific enzyme and gene defect have been identified, diagnosis and treatment of these disorders present formidable challenges because their signs and symptoms mimic other common conditions. We present a case report of a 13 years old girl who suffers from acute intermittent porphyria and the family tree showing all members who suffer from it. (author)

  19. Acute intermittent porphyria with syndrome of inappropriate antidiuretic hormone secretion (SIADH and neurological crisis, successfully treated with haemodialysis

    P. S. Singh

    2014-04-01

    Full Text Available We report a 35 years old male, a case of Acute Intermittent Porphyria (AIP with Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH and neurological crisis for its rarity. Since specific parenteral medication (hemin was not available, patient was empirically treated with haemodialysis with satisfactory outcome. [Int J Res Med Sci 2014; 2(2.000: 795-797

  20. Acute hepatic porphyria and hepatocellular carcinoma.

    Kauppinen, R.; Mustajoki, P

    1988-01-01

    In this study we examined the case histories of 163 living and 82 deceased adult Finnish patients with acute hepatic porphyria. There were 184 patients with acute intermittent porphyria and 61 patients with variegate porphyria. Among the 124 of the 163 living patients, who were traced 1984-1985, no hepatocellular carcinoma was found. Among the 82 deceased patients the cause of death was porphyria in 29 (36%), cardiovascular disease in 23 (29%) and hepatocellular carcinoma in 7 (9%). Of the 7 ...

  1. MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome

    Utz, N.; Kinkel, B.; Hedde, J.P.; Bewermeyer, H. [Staedtisches Krankenhaus Koeln-Merheim, Koeln (Germany). Neurologische Klinik

    2001-12-01

    Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, altered mental function, visual disturbances and seizures. Neuroimaging studies suggest a white-matter oedema, predominantly in the posterior parietal-temporal-occipital regions of the brain. We present the case of a 30-year-old woman who had suffered her first attack of acute intermittent porphyria (AIP). Following 1 week of abdominal pain she developed several generalized seizures, and hallucinations, and exhibited a progressive deterioration of the consciousness. T2-weighted images, especially fluid-attenuated inversion recovery (FLAIR) sequences showed bilateral lesions in the posterior frontal, parietal and occipital cortex and subcortical white matter. Following treatment with haematin and a high carbohydrate diet the patient's condition improved. Follow-up magnetic resonance imaging (MRI) revealed complete resolution of the lesions. To our knowledge, this is the first report concerning a completely reversible PLS in AIP. (orig.)

  2. MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome

    Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, altered mental function, visual disturbances and seizures. Neuroimaging studies suggest a white-matter oedema, predominantly in the posterior parietal-temporal-occipital regions of the brain. We present the case of a 30-year-old woman who had suffered her first attack of acute intermittent porphyria (AIP). Following 1 week of abdominal pain she developed several generalized seizures, and hallucinations, and exhibited a progressive deterioration of the consciousness. T2-weighted images, especially fluid-attenuated inversion recovery (FLAIR) sequences showed bilateral lesions in the posterior frontal, parietal and occipital cortex and subcortical white matter. Following treatment with haematin and a high carbohydrate diet the patient's condition improved. Follow-up magnetic resonance imaging (MRI) revealed complete resolution of the lesions. To our knowledge, this is the first report concerning a completely reversible PLS in AIP. (orig.)

  3. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.

    Pallet, Nicolas; Mami, Iadh; Schmitt, Caroline; Karim, Zoubida; François, Arnaud; Rabant, Marion; Nochy, Dominique; Gouya, Laurent; Deybach, Jean-Charles; Xu-Dubois, Yichum; Thervet, Eric; Puy, Hervé; Karras, Alexandre

    2015-08-01

    Acute intermittent porphyria (AIP) is a genetic disorder of the synthesis of heme caused by a deficiency in hydroxymethylbilane synthase (HMBS), leading to the overproduction of the porphyrin precursors δ-aminolevulinic acid and porphobilinogen. The aim of this study is to describe the clinical and biological characteristics, the renal pathology, and the cellular mechanisms of chronic kidney disease associated with AIP. A total of 415 patients with HMBS deficiency followed up in the French Porphyria Center were enrolled in 2003 in a population-based study. A follow-up study was conducted in 2013, assessing patients for clinical, biological, and histological parameters. In vitro models were used to determine whether porphyrin precursors promote tubular and endothelial cytotoxicity. Chronic kidney disease occurred in up to 59% of the symptomatic AIP patients, with a decline in the glomerular filtration rate of ~1 ml/min per 1.73 m(2) annually. Proteinuria was absent in the vast majority of the cases. The renal pathology was a chronic tubulointerstitial nephropathy, associated with a fibrous intimal hyperplasia and focal cortical atrophy. Our experimental data provide evidence that porphyrin precursors promote endoplasmic reticulum stress, apoptosis, and epithelial phenotypic changes in proximal tubular cells. In conclusion, the diagnosis of chronic kidney disease associated with AIP should be considered in cases of chronic tubulointerstitial nephropathy and/or focal cortical atrophy with severe proliferative arteriosclerosis. PMID:25830761

  4. Spectrum of emergency department presentation in patients of acute intermittent porphyria: Experience from a North Indian tertiary care center

    Kumar Susheel

    2010-01-01

    Full Text Available Of the porphyrias, acute intermittent porphyria (AIP is the most frequently encountered porphyria. The clinical characterestics of thirteen patients of AIP who presented to the Emergency Department were analyzed. The most common precipitating factor was drugs. Eleven patients presented with pain abdomen. Neurological manifestations included: Seizures in six and motor weakness in six. Of the four patients with hyponatremia, three had associated neuropathy and the fourth patient demonstrated a severe course marked by pontine-extrapontine myelinolysis and profound adrenergic activity. In conclusion, even though AIP is less frequently reported from India the emergency physicians should be vigilant to exclude the diagnostic possibility of AIP in a patient with an appropriate clinical setting.

  5. Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT

    Anderson, Peter M.; Reddy, Raman M.; Anderson, Karl E.; Desnick, Robert J

    1981-01-01

    The molecular pathology of the porphobilinogen (PBG)-deaminase deficiency in heterozygotes for acute intermittent porphyria (AIP) was investigated by means of biochemical and immunologic techniques. The stable enzyme-substrate intermediates (A, B, C, D, and E) of PBG-deaminase were separated by anion-exchange chromatography of erythrocyte lysates from heterozygotes for AIP and normal individuals. In normal lysates, the intermediates eluted in a characteristic pattern with decreasing amounts o...

  6. Glucose Effect in the Acute Porphyrias

    ... You are here Home Diet and Nutrition The glucose effect in acute porphyrias The disorders Acute Intermittent ... are treated initially with the administration of carbohydrate/glucose. This therapy has its basis in the ability ...

  7. Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

    Homedan, Chadi; Schmitt, Caroline; Laafi, Jihane; Gueguen, Naïg; Desquiret-Dumas, Valérie; Lenglet, Hugo; Karim, Zoubida; Gouya, Laurent; Deybach, Jean-Charles; Simard, Gilles; Puy, Hervé; Malthièry, Yves; Reynier, Pascal

    2015-09-01

    Acute intermittent porphyria (AIP), an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway. The clinical expression of the disease is mainly neurological, involving the autonomous, central and peripheral nervous systems. We explored mitochondrial oxidative phosphorylation (OXPHOS) in the brain and skeletal muscle of the Hmbs(-/-) mouse model first in the basal state (BS), and then after induction of the disease with phenobarbital and treatment with heme arginate (HA). The modification of the respiratory parameters, determined in mice in the BS, reflected a spontaneous metabolic energetic adaptation to HMBS deficiency. Phenobarbital induced a sharp alteration of the oxidative metabolism with a significant decrease of ATP production in skeletal muscle that was restored by treatment with HA. This OXPHOS defect was due to deficiencies in complexes I and II in the skeletal muscle whereas all four respiratory chain complexes were affected in the brain. To date, the pathogenesis of AIP has been mainly attributed to the neurotoxicity of aminolevulinic acid and heme deficiency. Our results show that mitochondrial energetic failure also plays an important role in the expression of the disease. PMID:26071363

  8. Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature

    Mehta Madhur

    2010-01-01

    Full Text Available Acute intermittent porphyria (AIP, the most common and the most severe form of acute hepatic porphyria, is an autosomal dominant condition. It results from lower-than-normal levels (less than 50% of porphobilinogen (PBG deaminase. Patients may present commonly with gastrointestinal complaints and neuropsychiatric manifestations. Diagnosis may be confirmed with the presence of intermediary metabolites of haem synthesis, amino levulinic acid (ALA and PBG in urine or with specific enzyme assays. Abdominal pain is the most common symptom (90%. Peripheral polyneuropathy, primarily motor with flaccid paresis of proximal musculature, with or without autonomic involvement, is characteristic. Respiratory failure necessitates ventilator and intensive care support. Avoidance of precipitating factors and the use of haem preparations and intravenous dextrose form the basis of management. Gabapentin and propofol, rather than the conventional antiepileptics appear to be the appropriate choice for seizure control. Here, we present intensive care management of four cases of AIP with varying clinical presentation.

  9. Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures.

    Dagens, Andrew; Gilhooley, Michael James

    2016-01-01

    Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This article describes a case of AIP and PRES in a young woman. PMID:27277587

  10. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

    Yang, Jing; Wang, Honglian; Yin, Kunlun; Hua, Baolai; Zhu, Tienan; Zhao, Yongqiang; Guo, Shubin; Yu, Xuezhong; Wu, Wei; Zhou, Zhou

    2015-07-10

    Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. Genetic testing provides a precise diagnosis for the patient and other asymptomatic family members, and thereby proper treatments can be initiated to prevent the disease from progressing. In this study, we report a novel PBGD missense mutation, A G-to-C, at the position 988 resulting in Alanine to Proline (Ala330Pro), in a Chinese family. PMID:25870942

  11. Haplotype Analysis of Norwegian and Swedish Patients with Acute Intermittent Porphyria (AIP: Extreme Haplotype Heterogeneity for the Mutation R116W

    Kjersti Tjensvoll

    2003-01-01

    Full Text Available Acute intermittent porphyria (AIP, the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS also called porphobilinogen deaminase (PBGD. The mutation spectrum in the HMBS gene is characterized by a majority of family specific mutations. Among the exceptions are R116W and W198X, with high prevalence in both the Dutch and Swedish populations. These two mutations were also detected in unrelated Norwegian patients. Thus, Norwegian and Swedish patients were haplotyped using closely linked flanking microsatellites and intragenic single nucleotide polymorphisms (SNPs to see if the high frequency of these two mutations is due to a founder effect. Twelve intragenic SNPs were determined by a method based on fluorescent restriction enzyme fingerprinting single-strand conformation polymorphism (F-REF-SSCP.

  12. A novel 3-base deletion (IVS3+2_4delTGG of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

    Georgina Severo Ribeiro

    2007-01-01

    Full Text Available Acute intermittent porphyria (AIP, OMIM 176000 is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD, mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.

  13. Acute intermittent porphyria

    Syal, Kartik; Bhatt, Rashmi; Singh, Surinder; Ohri, Anil

    2015-01-01

    These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from transcriptions, they are prepared by Drs. Martin J. Cline and Hibbard E. Williams, Assistant Professors of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine.

  14. Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

    Daniela von Ah Lopes

    2008-12-01

    caso de porfiria aguda intermitente no pós-operatório de cirurgia bariátrica.Acute intermittent porphyria is an unusual pathology with potentially severe consequences when not early detected. Among the possible causes of porphyric crises decrease of caloric intake has been described. A case of acute intermittent porphyria in the late postoperative period of a bariatric surgery performed for treatment of obesity is reported. A review of the diagnostic aspects and management of this pathology in the intensive care unit follows. A 31 year old woman was admitted in the intensive care unit three weeks after a bariatric surgery, with decreased level of consciousness and respiratory distress. The patient evolved with psychomotor agitation, mental confusion, abdominal pain and proximal tetraparesis. Diagnosis investigation disclosed severe hyponatremia (92mEq/L, hypomagnesemia, hypophosfatemia and hypocalcemia and cloudy urine without hematuria. Acute porphyria was suspected and the urine test detected high delta amino-levulinic acid and porphobilinogen. Treatment consisted of a correction of electrolyte disturbances and high carbohydrate intake. Hematin and heme arginate were not used, due to the difficulty to acquire the medication. After 8 months the patient progressed with full recovery of muscle strength and a clinical improvement. Acute intermittent porphyria has signs and symptoms common to several clinical, neurological, psychiatric and gastroenterological pathologies, which complicate diagnosis. Therefore, acute intermittent porphyria should be included in the differential diagnosis of neurological, psychiatric and gastroenterological alterations when results of all other exams are normal. Attention must be given to patients undergoing surgery mainly bariatric that, in addition to procedure stress, substantially limit the total caloric intake, potentially triggering crises. Review of literature did not disclose any report of acute intermittent porphyria crisis

  15. Markers for vulnerability in acute porphyria. A hypothesis paper.

    Thunell, S; Andersson, C; Carlmark, B; Floderus, Y; Grönqvist, S O; Harper, P; Henrichson, A; Lindh, U

    1995-04-01

    Previously symptomatic and permanently asymptomatic carriers of a gene mutation for acute intermittent porphyria as well as matched controls were screened with regard to a series of variables of possible relevance to the development of porphyric symptoms. The basis for the study was a concept of acute porphyria as a condition of a permanent system overload of oxidative stress, with long term effects on hepatic and renal tissue, and with instances of periodic overload of free radicals giving rise to acute neurologic involvement. Leukocyte concentrations of manganese, calcium, iron and zinc, as well as erythrocyte calcium differed between the groups, acute intermittent porphyria gene carriers, irrespective of previous porphyric illness, showing significantly higher levels than the controls. Manganese was found to be the most discriminative component of all the 78 variables investigated, accounting for about 98 per cent of the variance between the groups. An increment, by a factor of four, in cellular manganese is suggestive of an increase, in acute intermittent porphyria, of a manganese associated enzyme, e.g. glutamine synthetase, pyruvate carboxylase or mitochondrial superoxide dismutase. The best fit into the model considered is provided by a theory focused on superoxide dismutase, induced in response to superoxide anion radical produced from aminolaevulinic acid. In porphyria gene carriers seemingly resistant to porphyric manifestations, an increase in potentially prooxidant cellular iron is matched by a proportional increment in manganese, i.e. presumably by a corresponding mitochondrial superoxide dismutase induction. This mechanism is not operative in porphyric individuals prone to development of neuropsychiatric symptoms. In acute intermittent porphyria with a history of porphyric illness there is a positive correlation between erythrocyte manganese and serum folate and a negative correlation between leukocyte ferrochelatase activity and serum cobalamin

  16. Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

    Lee, G.L.; Astrin, K.H.; Desnick, R.J. [Mount Sinai School of Medicine, New York, NY (United States)

    1995-08-28

    Acute intermittent porphyria (AIP) is an autosomal-dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, since the life-threatening acute attacks are precipitated by various factors, including drugs, alcohol, fasting, and certain hormones. Biochemical diagnosis is problematic, and the identification of mutations in the HMB-synthase gene provides accurate detection of presymptomatic heterozygotes, permitting avoidance of the acute precipitating factors. By direct solid-phase sequencing, two mutations causing AIP were identified, an adenine deletion at position 629 in exon 11(629delA), which alters the reading frame and predicts premature truncation of the enzyme protein after amino acid 255, and a nonsense mutation in exon 12 (R225X). These mutations were confirmed by either restriction enzyme analysis or family studies of symptomatic patients, permitting accurate presymptomatic diagnosis of affected relatives. 29 refs., 2 figs.

  17. A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

    Jiao, Huang; Xianfeng, Zhang; Hui, Han; Yuhong, Zhan; Chu, Zhang

    2015-08-01

    Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, and psychiatric symptoms. Excessive porphobilinogen was found in her urine. A new mutation in intron 2 (IVS2-2Ag→G), which had never previously been reported in patients with porphyria or in healthy Chinese population, was identified in the heterozygous state in the patient and her mother. PMID:26228342

  18. High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria

    Gu, X.F.; Rooij, F. de; Voortman, G.; Velde, K.T.; Nordmann, Y.; Grandchamp, B.

    1992-09-01

    Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a partial deficiency of porphobilinogen (PBG) deaminase. Different subtypes of the disease have been defined, and more than 10 different mutations have been described. The authors focused their study on exon 10, since they previously found that three different mutations were located in this exon and that two of them seemed to be relatively common. They used denaturing gradient gel electrophoresis (DGGE) after in vitro amplification to detect all possible mutations in exon 10 in 41 unrelated AIP patients. In about one-fourth of these patients they could distinguish three abnormal migration patterns, indicating the presence of various mutations. Additional sequencing demonstrated the presence of three different single-base substitutions. Two of these mutations had already been described. A third one consisted of a C-to-T transition located at position 499 of the PBG deaminase mRNA and resulted in an Arg-to-Trp substitution. All three mutations were found in patients with crossreacting immunological material (CRIM)-positive forms of AlP. The high frequency of these mutations make DGGE analysis of exon 10 a useful approach allowing the direct detection of the DNA abnormality in most of the families with the CRIM-positive subtype of AlP. 23 refs., 3 figs., 1 tab.

  19. Liver Transplantation in the Management of Porphyria

    Singal, Ashwani K.; Parker, Charles; Bowden, Christine; Thapar, Manish; Liu, Lawrence; McGuire, Brendan M.

    2014-01-01

    Porphyrias are a group of eight metabolic disorders, each resulting from a mutation that affects an enzyme of the heme biosynthetic pathway. Porphyrias are classified as hepatic or erythropoietic, depending upon the site where the gene defect is predominantly expressed. Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate...

  20. Acute Porphyria in a Patient with Arnold Chiari Malformation

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be mi...

  1. Acute porphyrias: clinical spectrum of hodpitalized patients

    To determine characteristics, clinical features and triggers of acute porphyria in hospitalized patients presenting to a tertiary care center in Pakistan. Case records of 26 patients hospitalized with diagnosis were identified through computerized hospital patients data. The diagnosis of acute porphyria was based on pertinent clinical features and laboratory investigations after exclusion of other alternative diagnosis and patients previously diagnosed as porphyric. The data was analyzed through SPSS software version 11.0. Twelve patients (46.2%) were males. Mean age was 21 years. Most common manifestation were gastrointestinal (n=22; 88.5%) followed by neurological symptoms (n=14; 54%). Neurological manifestations included seizures (n=9; 34.6%) and neuropathy (n=6; 23%). One patient presented with depression and insomnia. Family history was positive in (n=8; 30.8%). Eighteen (69%) had history of previous attacks at their presentation to the hospital. Most common precipitating factor was eating outside (n=18; 69%). Porphyrias are uncommon and cryptic group of diseases. This study shows a slightly different gender distribution, earlier onset of symptoms, higher number of neuropsychiatric symptoms (especially seizures), more distal neuropathies and different precipitant in the studied subset of patients than described previously in the western studies. (author)

  2. Porphyria

    ... How is porphyria diagnosed? How is porphyria treated? Eating, Diet, and Nutrition Points to Remember Clinical Trials What are porphyrias? Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning ...

  3. Chester porphyria: a clinical study of a new form of acute porphyria.

    Qadiri, M R; Church, S. E.; McColl, K E; Moore, M R; Youngs, G. R.

    1986-01-01

    Acute porphyria afflicts a large kindred in Chester that stems from a marriage in 1896 that has produced 200 descendants; this is the largest porphyric kindred to be identified in the United Kingdom. Six members aged 51 or under died from the condition over the past eight years. The diagnosis of porphyria was overlooked in some as the symptoms may mimic those of other acute illnesses, so that incomplete or incorrect death certificates have been issued. Psychosis, hypertension, and renal compl...

  4. Porphyria

    Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance ... carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects ...

  5. Safety of general anaesthesia and surgery in acute hepatic porphyria.

    Dover, S B; Plenderleith, L; Moore, M R; McColl, K E

    1994-01-01

    Patients with acute hepatic porphyria are denied essential operations because of concern that general anaesthesia and surgery will precipitate a life threatening porphyric crisis. This study assessed the safety of surgery under general anaesthesia in these patients. A combined prospective and retrospective case note study, with a biochemical study, was conducted in 25 patients with acute hepatic porphyria undergoing 38 surgical operations. Clinical outcome measures were survival and occurrenc...

  6. Epidemiological study of the Danish Acute Intermittent Porphyriapopulation

    Brusgaard, Klaus

    The aim of our study was to describe the occurrence of Acute Intermittent Porphyria (AIP) in Denmark demographically, genetically and biochemically.The study was based on a database of porphobilinogen deaminase (PBGD) mutations detected in the period of 2000-2010. A total of 148 individuals were...... the study period. PBGD mutations were detected by standard exon and splice site sequencing procedures.The biochemical diagnosis of an acute porphyria attack was based on a PBG/creatinine ratio of ≥5.0 mmol/mol (reference interval 0.0–0.8 mmol/mol). Demographic distribution and prevalence: Region of......, 19 (26%) women). The total amount of measurements of biochemistry significant for acute porphyria attack in the registration period was 366, which corresponds to an average of 15 (1-83) per individual (32 (2-83) among the men, 9 (1-41) among the women) The 14 individuals who died during the...

  7. Porphyria in Sweden.

    Thunell, S; Floderus, Y; Henrichson, A; Harper, P

    2006-01-01

    In a brief survey the work of Swedish porphyrinologists through time is presented, from the organic chemist Jakob Berzelius 1840 to the molecular biologists of today. The building up in Stockholm of a Swedish national competence centre for porphyria is touched upon and the emergence of a computerized national register on the porphyria gene carriers in the country described. Figures for the prevalences of the seven different forms of porphyria diagnosed in Sweden are given. The geographical distribution of gene mutation spectra is shown for the most frequent form, acute intermittent porphyria. The organisation at Porphyria Centre Sweden of its diagnostic and consultative services is described, as is the decentralized model for porphyria care applied in the form of a clinical network covering the long and sparsely populated country. The ideas and activities of the Swedish Porphyria Patients' Association are presented. Its focus on protection-by-information of the porphyria gene carrier against maltreatment in health service contacts, and against other exposures to environmental threats to his or her health, is discussed. The combined efforts of the national porphyria centre and the patients' association have resulted in early and accurate diagnosis of most of the porphyria gene carriers in the country. The information to the carriers and to the health service regarding the mechanisms of the diseases and the importance of avoiding exposure to disease triggering environmental factors have greatly reduced porphyric morbidity. In the case of the acute porphyrias, by this programme and after the introduction of heme arginate in the therapy, mortality in the acute phase has become extremely rare in Sweden. In contrast, probably due to greater awareness of the high risk for liver cancer in acute porphyrias the number of hepatoma cases diagnosed has increased. The current research activities at the Porphyria Centre which aim at finding ways to substitute the mutated gene in

  8. Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

    Marsden, Joanne T.; Guppy, Simon; Stein, Penelope; Cox, Timothy M.; Badminton, Michael; Gardiner, Tricia; Barth, Julian H; Stewart, M. Felicity; Rees, David C.

    2015-01-01

    The National Acute Porphyria Service (NAPS) provides acute care support and clinical advice for patients in England with active acute porphyria requiring haem arginate treatment and patients with recurrent acute attacks.

  9. Cutaneous Porphyrias

    Christiansen, Anne L; Aagaard, Lise; Krag, Aleksander; Rasmussen, Lars M; Bygum, Anette

    2016-01-01

    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. From the Danish Porphyria Register, we present the incidences and approximate prevalences of cutaneous porphyrias within the last 25 years. A total of 650 patients with porphyria...... cutanea tarda were identified, 73 with erythropoietic protoporphyria, 9 with variegate porphyria, 4 with hereditary coproporphyria and one with congenital erythropoietic porphyria. The total incidence of all porphyrias was ~0.52/100,000 per year....

  10. Danos ao DNA promovidos por ácido 5-aminolevulínico: possível associação com o desenvolvimento de carcinoma hepatocelular em portadores de porfiria aguda intermitente DNA damage induced by 5-aminolevulinic acid: a possible association with the development of hepatocellular carcinoma in acute intermittent porphyria patients

    Janice Onuki

    2002-07-01

    Full Text Available 5-Aminolevulinic acid (ALA is a heme precursor accumulated in acute intermittent porphyria (AIP, which might be associated with hepatocellular carcinoma (HCC in symptomatic patients. Under metal catalyzed oxidation, ALA and its cyclic dimerization product, 3,6-dihydropyrazine-2,5-dipropanoic acid, produce reactive oxygen species that damage plasmid and calf thymus DNA bases, increase the steady state level of 8-oxo-7,8-dihydro-2´-deoxyguanosine in liver DNA and promote mitochondrial DNA damage. The final product of ALA, 4,5-dioxovaleric acid (DOVA, is able to alkylate guanine moieties, producing adducts. ALA and DOVA are mutagenic in bacteria. This review shows an up-to-date literature data that reinforce the hypothesis that the DNA damage induced by ALA may be associated with the development of HCC in AIP patients.

  11. [Neurocutaneous porphyrias].

    Frank, J

    2016-03-01

    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. PMID:26743053

  12. The little imitator--porphyria: a neuropsychiatric disorder.

    Crimlisk, H L

    1997-01-01

    Three common subtypes of porphyria give rise to neuropsychiatric disorders; acute intermittent porphyria, variegate porphyria, and coproporphyria. The second two also give rise to cutaneous symptoms. Neurological or psychiatric symptoms occur in most acute attacks, and may mimic many other disorders. The diagnosis may be missed because it is not even considered or because of technical problems, such as sample collection and storage, and interpretation of results. A negative screening test doe...

  13. Porphyria and anorexia: cause and effect

    Martins, Carlos R.; Bandeira, Barbara E.S.; Martinez, Alberto R. M.; Dalgalarrondo, Paulo; França, Marcondes C.

    2014-01-01

    Porphyrias are hereditary disorders related to impaired biosynthesis of heme and characterized by multisystemic manifestations. Acute intermittent porphyria (AIP) is the most common acute subtype of the disease, and often associated with psychiatric symptoms. We here report a patient who developed acute flaccid paralysis after remarkable weight loss, which was related to an eating disorder (anorexia nervosa). After an extensive neurologic workup, he was diagnosed with AIP. This case emphasize...

  14. Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

    Siddesh Besur

    2014-11-01

    Full Text Available Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA, porphobilinogen and porphyrins are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther’s disease and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver versus bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow. We also describe salient clinical, laboratory and genetic features of the eight types of porphyria.

  15. MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria

    We report a 20-year-old woman who had an attack of acute intermittent porphyria with seizures, hallucinations, autonomic and somatic neuropathy. T2-weighted MRI revealed multiple lesions which were no longer visible 3 months later. We suggest a similar mechanism to posterior reversible encephalopathy underlying cerebral symptoms in porphyria. (orig.)

  16. MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria

    Celik, M. [Huesrev Gerede c, 128/4 Tesvikiye, 80690 Istanbul (Turkey); Department of Neurology, Sisli Etfal Education and Research Hospital, Sisli Etfal S., Sisli, Istanbul (Turkey); Forta, H.; Babacan, G. [Department of Neurology, Sisli Etfal Education and Research Hospital, Sisli Etfal S., Sisli, Istanbul (Turkey); Dalkilic, Tuerker [Department of Neurosurgery, Sisli Etfal Education and Research Hospital, Sisli Etfal S., Sisli, Istanbul (Turkey)

    2002-10-01

    We report a 20-year-old woman who had an attack of acute intermittent porphyria with seizures, hallucinations, autonomic and somatic neuropathy. T2-weighted MRI revealed multiple lesions which were no longer visible 3 months later. We suggest a similar mechanism to posterior reversible encephalopathy underlying cerebral symptoms in porphyria. (orig.)

  17. Porphyria Presenting as Diffuse Encephalopathy

    J Gordon Millichap

    2005-05-01

    Full Text Available An 18-year-old female presenting with seizures, myalgias, abdominal pain, headache and vomiting had multiple large contrast-enhancing white matter lesions on MRI and was diagnosed with acute intermittent porphyria (AIP, in a report from the Department of Neurology, Mayo Clinic, Rochester, MN.

  18. A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice

    Bălaşa Rodica

    2014-09-01

    Full Text Available Porfiria acută intermitentă (PAI este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de adultii care prezintă simptome inexplicabile, dar cu unele caracteristici clinice sugestive: femei cu vârstă reproductivă, dureri abdominale, slăbiciune musculară, hiponatremie prelungită şi severă, urină închisă la culoare sau roşie.

  19. Studies in laboratory animals to assess the safety of anti-inflammatory agents in acute porphyria.

    McColl, K E; Thompson, G G; Moore, M R

    1987-01-01

    The safety of various anti-inflammatory drugs in acute porphyria was assessed by examining their effect on rat hepatic haem synthesis. Azapropazone, chloroquine, and gold increased delta-aminolaevulinic acid (ALA) synthase activity, indicating that they are liable to precipitate porphyric crises. Aspirin, ibuprofen, indomethacin, ketoprofen, flurbiprofen, phenylbutazone, naproxen, prednisolone, and penicillamine did not increase ALA synthase activity and should be safe in porphyria. Though th...

  20. Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias.

    Stubenhaus, Bradford M; Dustin, John P; Neverett, Emily R; Beaudry, Megan S; Nadeau, Leanna E; Burk-McCoy, Ethan; He, Xinwen; Pearson, Bret J; Pellettieri, Jason

    2016-01-01

    Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to light, in the skin of affected individuals. Here we report that in addition to producing an ommochrome body pigment, the planarian flatworm Schmidtea mediterranea generates porphyrins in its subepithelial pigment cells under physiological conditions, and that this leads to pigment cell loss when animals are exposed to intense visible light. Remarkably, porphyrin biosynthesis and light-induced depigmentation are enhanced by starvation, recapitulating a common feature of some porphyrias - decreased nutrient intake precipitates an acute manifestation of the disease. Our results establish planarians as an experimentally tractable animal model for research into the pathophysiology of acute porphyrias, and potentially for the identification of novel pharmacological interventions capable of alleviating porphyrin-mediated photosensitivity or decoupling dieting and fasting from disease pathogenesis. PMID:27240733

  1. 表现为可逆性后部白质脑病综合征的急性间歇性卟啉病(附1例报告)%Acute intermittent porphyria appeaed as reversible posterior leukoencephalopathy syndrome ( report of 1 case)

    高海凤; 鲁琳; 李永秋

    2012-01-01

    Objective To explore the clinical features of acute intermittent porphyria ( AIP) apperaed as reversible posterior leukoencephalopathy syndrome (RPLS). Methods The clinical date of one AIP patient apperaed as RPLS was retrospectively analyzed. Results This patient was a young woman. The main clinical manifastations were abdominal pain, seizures, psychological symptoms and autonomie nervous dysfunction. The laboratory examination showed hyponatremia, hypochloridemia and uroporphyrin positive. The MR1 indicate diffusely lesions located in bilateral posterior frontal lobe, parital and temporal lobe and bilateral cerebellar hemisphere, which were low signals in T, WI and high signals in T2WI and Flair imaging. The symptom was improved after treated with high volume of glucose and adenosine triphosphate, and the symptomatic treatments like correcting electrolyte turbulence etc. The reexamination of MRI showed the lesions were almost disappeared. Conclusions AIP is a rare cause of RPLS. The AIP patient apperaed as RPLS may suffer abdominal pain and nervous and psychological symptoms. Urine test and MRI may be helpful to diagnose.%目的 探讨表现为可逆性白质脑病综合征(RPLs)的急性间歇性卟啉病(AIP)的临床特点.方法 回顾性分析1例表现为RPLS的AIP患者的临床资料.结果 本例患者为青年女性,临床表现为腹痛、癫痫发作、精神症状、植物神经受累表现,检查发现低钠、低氯血症,尿卟啉定性阳性;头颅MRI示两侧额叶后部、顶叶、颞叶皮质和两侧小脑半球弥漫对称性片状异常信号,T1WI为等或低信号,T2WI及Flair序列呈高信号.经高糖、三磷酸腺苷以及纠正电解质紊乱等治疗后症状改善.复查头颅MRI示病变基本消失.结论 AIP是RPLS的罕见原因之一.表现为RPLS的AIP可有腹痛和神经精神症状等,尿检和影像学检查对诊断有帮助.

  2. Porphyria and anorexia: cause and effect.

    Martins, Carlos R; Bandeira, Barbara E S; Martinez, Alberto R M; Dalgalarrondo, Paulo; França, Marcondes C

    2014-12-01

    Porphyrias are hereditary disorders related to impaired biosynthesis of heme and characterized by multisystemic manifestations. Acute intermittent porphyria (AIP) is the most common acute subtype of the disease, and often associated with psychiatric symptoms. We here report a patient who developed acute flaccid paralysis after remarkable weight loss, which was related to an eating disorder (anorexia nervosa). After an extensive neurologic workup, he was diagnosed with AIP. This case emphasizes a deleterious vicious cycle between AIP and anorexia: porphyria may lead to anorexia and the carbohydrate restriction may lead to recurrent porphyric attacks. Therefore, an interruption of this cycle with psychiatric approaches to the eating disorders is crucial for long-term therapeutic efficacy. PMID:25988062

  3. Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias

    Stubenhaus, Bradford M; Dustin, John P; Neverett, Emily R; Beaudry, Megan S; Nadeau, Leanna E; Burk-McCoy, Ethan; He, Xinwen; Pearson, Bret J; Pellettieri, Jason

    2016-01-01

    Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to light, in the skin of affected individuals. Here we report that in addition to producing an ommochrome body pigment, the planarian flatworm Schmidtea mediterranea generates porphyrins in its subepithelial pigment cells under physiological conditions, and that this leads to pigment cell loss when animals are exposed to intense visible light. Remarkably, porphyrin biosynthesis and light-induced depigmentation are enhanced by starvation, recapitulating a common feature of some porphyrias – decreased nutrient intake precipitates an acute manifestation of the disease. Our results establish planarians as an experimentally tractable animal model for research into the pathophysiology of acute porphyrias, and potentially for the identification of novel pharmacological interventions capable of alleviating porphyrin-mediated photosensitivity or decoupling dieting and fasting from disease pathogenesis. DOI: http://dx.doi.org/10.7554/eLife.14175.001 PMID:27240733

  4. Porphyrias: A 2015 update.

    Karim, Zoubida; Lyoumi, Said; Nicolas, Gael; Deybach, Jean-Charles; Gouya, Laurent; Puy, Hervé

    2015-09-01

    The hereditary porphyrias comprise a group of eight metabolic disorders of the heme biosynthesis pathway. Each porphyria is caused by abnormal function at a separate enzymatic step resulting in a specific accumulation of heme precursors. Porphyrias are classified as hepatic or erythropoietic, based on the organ system in which heme precursors (δ-aminolevulinic acid [ALA], porphobilinogen and porphyrins) are overproduced. Clinically, porphyrias are characterized by acute neurovisceral symptoms, skin lesions or both. However, most if not all the porphyrias impair hepatic or gastrointestinal function. Acute hepatic porphyrias present with severe abdominal pain, nausea, constipation, confusion and seizure, which may be life threatening, and patients are at risk of hepatocellular carcinoma without cirrhosis. Porphyria Cutanea presents with skin fragility and blisters, and patients are at risk of hepatocellular carcinoma with liver iron overload. Erythropoietic protoporphyria and X-linked protoporphyria present with acute painful photosensitivity, and patients are at risk of acute liver failure. Altogether, porphyrias are still underdiagnosed, but once they are suspected, early diagnosis based on measurement of biochemical metabolites that accumulate in the blood, urine, or feces is essential so specific treatment can be started as soon as possible and long-term liver complications are prevented. Screening families to identify presymptomatic carriers is also crucial to prevent overt disease and chronic hepatic complications. PMID:26142871

  5. Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms.

    Marsden, Joanne T; Guppy, Simon; Stein, Penelope; Cox, Timothy M; Badminton, Michael; Gardiner, Tricia; Barth, Julian H; Stewart, M Felicity; Rees, David C

    2015-01-01

    The National Acute Porphyria Service (NAPS) provides acute care support and clinical advice for patients in England with active acute porphyria requiring haem arginate treatment and patients with recurrent acute attacks.This audit examined the benefits and complications of regular haem arginate treatment started with prophylactic intent to reduce the frequency of recurrent acute attacks in a group of patients managed through NAPS. We included 22 patients (21 female and 1 male) and returned information on diagnosis, indications for prophylactic infusions, frequency and dose, analgesia, activity and employment and complications including thromboembolic disease and iron overload.The median age at presentation with porphyria was 21 years (range 9-44), with acute abdominal pain as the predominant symptom. Patients had a median of 12 (1-400) attacks before starting prophylaxis and had received a median of 52 (0-1,350) doses of haem arginate. The median age at starting prophylaxis was 28 years (13-58) with a median delay of 4 years (0.5-37) between presentation and prophylaxis. The frequency of prophylactic haem arginate varied from 1 to 8 per month, and 67% patients were documented as having a reduction in pain frequency on prophylaxis. Only one patient developed clinically significant iron overload and required iron chelation, but the number of venous access devices required varied from 1 to 15, with each device lasting a median of 1.2 years before requiring replacement. Six patients stopped haem arginate and in three this was because their symptoms had improved. Prophylactic haem arginate appears to be beneficial in patients with recurrent acute porphyria symptoms, but maintaining central venous access may prove challenging. PMID:25762493

  6. [Porphyrias and haem related disorders].

    Peoc'h, K; Martin-Schmitt, C; Talbi, N; Deybach, J-C; Gouya, L; Puy, H

    2016-03-01

    The hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway characterised by acute neurovisceral symptoms, skin lesions or both. Each porphyria is caused by abnormal function of a separate enzymatic step resulting in a specific accumulation of haem precursors. Seven porphyrias are the consequence of a partial enzyme deficiency while a gain of function mechanism has been recently characterised in a novel porphyria. Acute porphyrias present with severe abdominal pain, nausea, constipation, confusion and seizure, which may be life threatening. Cutaneous porphyrias can be present with either acute painful photosensitivity or skin fragility and blisters. Rare recessive porphyrias usually manifest in early childhood with either severe chronic neurological symptoms or chronic haemolysis and severe cutaneous photosensitivity. Porphyrias are still underdiagnosed, but once they are suspected, and depending on the clinical presentation, a specific and simple front line test allows the diagnosis in all symptomatic patients. Diagnosis is essential to institute as soon as possible a specific treatment. Screening families to identify presymptomatic carriers is crucial to prevent chronic complications and overt disease by counselling on avoiding potential precipitants. PMID:26774916

  7. Porphyria Cutanea Tarda: A rare metabolic condition in India

    B S Roopa; R Gurumoorthi; Ponnusankar Sivasankaran

    2015-01-01

    Porphyria cutanea tarda (PCT) is the most frequent type of porphyria worldwide and presents with skin symptoms only. Porphyrias are a group of eight panethnic inherited metabolic disorders of heme biosynthesis. Porphyria can affect peripheral, autonomic, and central nervous systems.In porphyria conditions there is accumulation of the hemeprecursor′s 5-aminolaevulinic acid, porphobilinogen, and porphyrins; which are associated with characteristic clinical feature with acute neurovisceral attac...

  8. Acute Effects of Carbohydrate Supplementation on Intermittent Sports Performance

    Lindsay B. Baker

    2015-07-01

    Full Text Available Intermittent sports (e.g., team sports are diverse in their rules and regulations but similar in the pattern of play; that is, intermittent high-intensity movements and the execution of sport-specific skills over a prolonged period of time (~1–2 h. Performance during intermittent sports is dependent upon a combination of anaerobic and aerobic energy systems, both of which rely on muscle glycogen and/or blood glucose as an important substrate for energy production. The aims of this paper are to review: (1 potential biological mechanisms by which carbohydrate may impact intermittent sport performance; (2 the acute effects of carbohydrate ingestion on intermittent sport performance, including intermittent high-intensity exercise capacity, sprinting, jumping, skill, change of direction speed, and cognition; and (3 what recommendations can be derived for carbohydrate intake before/during exercise in intermittent sports based on the available evidence. The most researched intermittent sport is soccer but some sport-specific studies have also been conducted in other sports (e.g., rugby, field hockey, basketball, American football, and racquet sports. Carbohydrate ingestion before/during exercise has been shown in most studies to enhance intermittent high-intensity exercise capacity. However, studies have shown mixed results with regards to the acute effects of carbohydrate intake on sprinting, jumping, skill, change of direction speed, and cognition. In most of these studies the amount of carbohydrate consumed was ~30–60 g/h in the form of a 6%–7% carbohydrate solution comprised of sucrose, glucose, and/or maltodextrin. The magnitude of the impact that carbohydrate ingestion has on intermittent sport performance is likely dependent on the carbohydrate status of the individual; that is, carbohydrate ingestion has the greatest impact on performance under circumstances eliciting fatigue and/or hypoglycemia. Accordingly, carbohydrate ingestion before

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

    Schutte, Clara-Maria; van der Meyden, Cornelius H; van Niekerk, Linette; Kakaza, Mandisa; van Coller, Riaan; Ueckermann, Veronica; Oosthuizen, Nicky M

    2016-01-01

    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. A possible manifestation of a severe attack is rapidly progressing quadriparesis, which may mimic Guillain-Barré syndrome. We present four such cases, highlighting that acute porphyria should be considered in the differential diagnosis of Guillain-Barré syndrome. Three patients presented to Steve Biko Academic Hospital, Pretoria, SA, with progressive quadriparesis, and one to a private hospital with acute abdominal pain followed by rapidly progressive quadriparesis. Two patients had started antiretroviral therapy before the development of symptoms, and one had started antituberculosis therapy. All patients had marked weakness with depressed reflexes, and showed varying degrees of confusion. An initial diagnosis of Guillain-Barré syndrome led to administration of intravenous immunoglobulins in two patients. On testing for porphyria, it was found that two patients had AIP and two VP. Electrophysiological investigations revealed severe mainly motor axonal neuropathy in all. Two patients deteriorated to the point of requiring mechanical ventilation, and one of them died due to complications of critical illness. Haemin was administered to three patients, but the process of obtaining this medication was slow, which delayed the recommended early administration. The surviving patients showed minimal recovery and remained severely disabled. Porphyric neuropathy should always be considered as a differential diagnosis in a patient with an acute neuropathy, especially in SA. Absence of abdominal pain does not exclude the

  10. Porphyria Cutanea Tarda

    ... Favorite Name: Category: Share: Yes No, Keep Private Porphyria Cutanea Tarda Share | A porphyria is blood disorder in which cells fail to ... the substance (heme) that gives blood its color. Porphyria Cutanea Tarda, also called PCT, is the most ...

  11. Porphyria Cutanea Tarda: A rare metabolic condition in India

    B S Roopa

    2015-01-01

    Full Text Available Porphyria cutanea tarda (PCT is the most frequent type of porphyria worldwide and presents with skin symptoms only. Porphyrias are a group of eight panethnic inherited metabolic disorders of heme biosynthesis. Porphyria can affect peripheral, autonomic, and central nervous systems.In porphyria conditions there is accumulation of the hemeprecursor′s 5-aminolaevulinic acid, porphobilinogen, and porphyrins; which are associated with characteristic clinical feature with acute neurovisceral attacks and skin lesions. Variegate porphyria, hereditary coproporphyria, and PCT share the same chronic cutaneous photosensitivity. Some drugs will also induce acute attack of porphyria. This report summarizes the management of PCT with a focus on the signs and symptoms and finding that might help and prevent unnecessary medications.

  12. Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases

    Winkler, A.; T. Peters; Elwes, R.

    2005-01-01

    Objectives: Although epileptic seizures are an infrequent feature of acute attacks of the neuropsychiatric porphyrias, there are no significant reports of porphyria in chronic epilepsy. This paper attempts to redress the balance.

  13. Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification.

    Chan, Amy; Liebow, Abigail; Yasuda, Makiko; Gan, Lin; Racie, Tim; Maier, Martin; Kuchimanchi, Satya; Foster, Don; Milstein, Stuart; Charisse, Klaus; Sehgal, Alfica; Manoharan, Muthiah; Meyers, Rachel; Fitzgerald, Kevin; Simon, Amy; Desnick, Robert J; Querbes, William

    2015-01-01

    The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1) by triggers such as fasting or drug exposure can lead to accumulation of neurotoxic heme intermediates that cause disease symptoms. We have demonstrated that hepatic ALAS1 silencing using siRNA in a lipid nanoparticle effectively prevents and treats induced attacks in a mouse model of acute intermittent porphyria. Herein, we report the development of ALN-AS1, an investigational GalNAc-conjugated RNAi therapeutic targeting ALAS1. One challenge in advancing ALN-AS1 to patients is the inability to detect liver ALAS1 mRNA in the absence of liver biopsies. We here describe a less invasive circulating extracellular RNA detection assay to monitor RNAi drug activity in serum and urine. A striking correlation in ALAS1 mRNA was observed across liver, serum, and urine in both rodents and nonhuman primates (NHPs) following treatment with ALN-AS1. Moreover, in donor-matched human urine and serum, we demonstrate a notable correspondence in ALAS1 levels, minimal interday assay variability, low interpatient variability from serial sample collections, and the ability to distinguish between healthy volunteers and porphyria patients with induced ALAS1 levels. The collective data highlight the potential utility of this assay in the clinical development of ALN-AS1, and in broadening our understanding of acute hepatic porphyrias disease pathophysiology. PMID:26528940

  14. Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study

    Tollånes, Mette Christophersen; Aarsand, Aasne Karine; Sandberg, Sverre

    2010-01-01

    The porphyrias comprise a heterogeneous group of rare, primarily hereditary, metabolic diseases caused by a partial deficiency in one of the eight enzymes involved in the heme biosynthesis. Our aim was to assess whether acute or cutaneous porphyria has been associated with excess risks of adverse pregnancy outcomes. A population-based cohort study was designed by record linkage between the Norwegian Porphyria Register, covering 70% of all known porphyria patients in Norway, and the Medical Bi...

  15. Acute interstitial nephritis induced by intermittent use of Rifampicin in patient with Brucellosis

    Acute oliguric renal failure (ARF) developed in a patient 2 days after she was started on intermittent anti-Brucella therapy including rifampicin. The clinical picture was compatible with acute allergic interstitial nephritis. Renal histology revealed mainly acute tubular necrosis with mild tubulo-intertitial mononuclear cellular infiltrate. Intermittent therapy, as in our patient, has been the major factor in the development of rifampicin induced ARF in cases reviewed in literature. (author)

  16. Disease: H00202 [KEGG MEDICUS

    Full Text Available H00202 Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria...; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria... (ALADP); Hereditary Coproporphyria (HCP) Hepatic porphyrias are diseases due to marked deficiencies... of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria... 176000 176200 121300 125270 PMID:14995910 Kauppinen R Molecular diagnostics of acute intermittent porphyria

  17. Porphyria cutanea tarda

    Bygum, A; Brandrup, F; Christiansen, L; Petersen, N E

    2000-01-01

    Porphyria cutanea tarda (PCT), the most common porphyria disease, is characterized by blistering and skin fragility of sun-exposed skin. The symptoms are caused by lowered activity of uroporphyrinogen decarboxylase (URO-D) resulting in accumulation of water-soluble porphyrins in the skin. Most PCT...

  18. Rapid screening test for porphyria diagnosis using fluorescence spectroscopy

    Lang, A.; Stepp, H.; Homann, C.; Hennig, G.; Brittenham, G. M.; Vogeser, M.

    2015-07-01

    Porphyrias are rare genetic metabolic disorders, which result from deficiencies of enzymes in the heme biosynthesis pathway. Depending on the enzyme defect, different types of porphyrins and heme precursors accumulate for the different porphyria diseases in erythrocytes, liver, blood plasma, urine and stool. Patients with acute hepatic porphyrias can suffer from acute neuropathic attacks, which can lead to death when undiagnosed, but show only unspecific clinical symptoms such as abdominal pain. Therefore, in addition to chromatographic methods, a rapid screening test is required to allow for immediate identification and treatment of these patients. In this study, fluorescence spectroscopic measurements were conducted on blood plasma and phantom material, mimicking the composition of blood plasma of porphyria patients. Hydrochloric acid was used to differentiate the occurring porphyrins (uroporphyrin-III and coproporphyrin-III) spectroscopically despite their initially overlapping excitation spectra. Plasma phantom mixtures were measured using dual wavelength excitation and the corresponding concentrations of uroporphyrin-III and coproporphyrin-III were determined. Additionally, three plasma samples of porphyria patients were examined and traces of coproporphyrin-III and uroporphyrin-III were identified. This study may therefore help to establish a rapid screening test method with spectroscopic differentiation of the occurring porphyrins, which consequently allows for the distinction of different porphyrias. This may be a valuable tool for clinical porphyria diagnosis and rapid or immediate treatment.

  19. Diet and Nutrition in Porphyria

    ... You are here Home About Porphyria Diet and Nutrition A proper diet is important to all individuals, ... alter food intake. Therefore, attention to diet and nutrition is important in almost any disease. Porphyrias are ...

  20. Clinical and genetic features of variegate porphyria in a Chinese patient

    2001-01-01

    @@Acute porphyria is rare in orientals. We describe a Chinese woman with recurrent generalised tonic-clonic seizures and abdominal pain. Genomic DNA studies identified a heterozygous base substitution from guanine to adenine at nucleotide position 503, resulting in substitution of arginine by histidine at position 168 of the protein (R168H). This genetic abnormality is similar to the mutation reported in Caucasians with variegate porphyria. To the best of our knowledge, this is the first report in the English literature a Chinese patient with variegate porphyria with an identifiable mutation. A brief review of porphyria is presented.

  1. [Solarium-induced pseudoporphyria and variegate porphyria as rare differential diagnoses of porphyria cutanea tarda].

    Kochs, C; Mühlenstädt, E; Neumann, N J; Hanneken, S

    2009-10-01

    Three patients presented with typical porphyria cutanea tarda-like vesicles, erosions and scars as well as increased fragility, primarily on the back of the hands. In two of the three, porphyrin workup was normal. Skin biopsy was compatible with porphyria cutanea tarda (PCT) or pseudoporphyria. The common aspect in the patients' history was the frequent use of solaria for many years, so that UV-induced pseudoporphyria was diagnosed. Treatment was strict abstention from UV radiation and regular dermatologic controls for signs of skin damage. Porphyrin analysis in the third patient showed normal excretion of total urine porphyrins and precursors; however, fecal porphyrins were elevated with dominating coproporphyrins in HPLC and the plasma fluorescence scan yielded a peak at 625 nm. Subsequent mutation analysis showed a mutation in the protoporphyrinogen oxidase gene, thereby confirming the diagnosis of variegate porphyria. Five months after the initial diagnosis the patient presented with the first acute attack. Further investigations revealed a metastasized carcinoma of the colon, which probably triggered the acute attack. Our cases show rare differential diagnoses in patients presenting with typical PCT-like skin lesions. The discrimination between porphyria cutanea tarda and its differential diagnoses is very important since it has an important impact not only on the treatment modality but also on the course and the prognosis of the disease. PMID:19756434

  2. Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

    Méndez, Manuel; Granata, Barbara X.; Jiménez, María J. Morán; Parera, Victoria E.; Batlle, Alcira; De Salamanca, Rafael Enríquez; Rossetti, María V.

    2011-01-01

    A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise diagnosis of patients with a symptomatic VP is essential to provide accurate treatment. It is also critical to identify asymptomatic relatives to avoid precipitating factors and prevent acute attacks.

  3. Sleep state dependence of ventilatory long-term facilitation following acute intermittent hypoxia in Lewis rats

    Nakamura, A.; Olson, E B; Terada, J.; Wenninger, J. M.; Bisgard, G. E.; Mitchell, G.S.

    2010-01-01

    Ventilatory long-term facilitation (vLTF) is a form of respiratory plasticity induced by acute intermittent hypoxia (AIH). Although vLTF has been reported in unanesthetized animals, little is known concerning the effects of vigilance state on vLTF expression. We hypothesized that AIH-induced vLTF is preferentially expressed in sleeping vs. awake male Lewis rats. Vigilance state was assessed in unanesthetized rats with chronically implanted EEG and nuchal EMG electrodes, while tidal volume, fr...

  4. LIPOPOLYSACCHARIDE ATTENUATES PHRENIC LONG-TERM FACILITATION FOLLOWING ACUTE INTERMITTENT HYPOXIA

    Vinit, Stéphane; Windelborn, James A; Mitchell, Gordon S.

    2011-01-01

    Lipopolysaccharide (LPS) induces inflammatory responses, including microglial activation in the central nervous system. Since LPS impairs certain forms of hippocampal and spinal neuroplasticity, we hypothesized that LPS would impair phrenic long-term facilitation (pLTF) following acute intermittent hypoxia (AIH) in outbred Sprague-Dawley (SD) and inbred Lewis (L) rats.. Approximately three hours following a single LPS injection (i.p.), the phrenic response during hypoxic episodes is reduced i...

  5. Diaphragm long-term facilitation following acute intermittent hypoxia during wakefulness and sleep

    Terada, J.; Mitchell, G.S.

    2011-01-01

    Acute intermittent hypoxia (AIH) elicits a form of respiratory plasticity known as long-term facilitation (LTF). Here, we tested four hypotheses in unanesthetized, spontaneously breathing rats using radiotelemetry for EEG and diaphragm electromyography (Dia EMG) activity: 1) AIH induces LTF in Dia EMG activity; 2) diaphragm LTF (Dia LTF) is more robust during sleep vs. wakefulness; 3) AIH (or repetitive AIH) disrupts natural sleep-wake architecture; and 4) preconditioning with daily AIH (dAIH...

  6. [Porphyria cutanea tara].

    Merk, H F

    2016-03-01

    Porphyria cutanea tara (PCT) has a prevelance of about 40 new diagnoses per 1 million people per year and is the most frequently occurring type of porphyria worldwide. Inhibition of the uroporphyrinogen decarboxylase (UROD) is the main cause of the disease, which can be the result of a heterozygous or homozygous mutation of the UROD gene; however, xenobiotics or other diseases may play an important role for the precipitation of the disease. Risk factors include alcohol, estrogen, iron overload, and hemochromatosis, hepatitis C or poisoning, e.g., with polyhalogenated aromatic compounds such as hexachlorobenzene. Signs and symptoms are blisters, skin fragility, erosions hyperpigmentation, sclerodermoid plaques. Therapy includes sun protection, prevention of risk factors, phlebotomy, and chloroquine. PMID:26743054

  7. Gene-environmental interactions: Lessons from porphyria

    Sassa, Shigeru

    2003-01-01

    The porphyrias are uncommon, complex, and fascinating metabolic conditions, caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. Two cardinal symptoms of the porphyrias are cutaneous photosensitivity and neurologic disturbances. Molecular analysis of gene defects has shown that there are multiple and heterogeneous mutations in each porphyria. Patients with symptomatic porphyria can suffer greatly, and, in rare cases, may die. While congenital porphyrias ar...

  8. Effects of Acutely Intermittent Hypoxic Exposure on Running Economy and Physical Performance in Basketball Players.

    Kilding, Andrew E; Dobson, Bryan P; Ikeda, Erika

    2016-07-01

    Kilding, AE, Dobson, BP, and Ikeda, E. Effects of acutely intermittent hypoxic exposure on running economy and physical performance in basketball players. J Strength Cond Res 30(7): 2033-2042, 2016-The aim of this study was to determine the effect of short duration intermittent hypoxic exposure (IHE) on physical performance in basketball players. Using a single-blind placebo-controlled group design, 14 trained basketball players were subjected to 15 days of passive short duration IHE (n = 7), or normoxic control (CON, n = 7), using a biofeedback nitrogen dilution device. A range of physiological, performance, and hematological variables were measured at baseline, and 10 days after IHE. After intervention, the IHE group, relative to the CON group, exhibited improvements in the Yo-Yo intermittent recovery level 1 (+4.8 ± 1.6%; effect size [ES]: 1.0 ± 0.4) and repeated high-intensity exercise test performance (-3.5 ± 1.6%; ES: -0.4 ± 0.2). Changes in hematological parameters were minimal, although soluble transferrin receptor increased after IHE (+9.2 ± 10.1%; ES: 0.3 ± 0.3). Running economy at 11 km·h (-9.0 ± 9.7%; ES: -0.7 ± 0.7) and 13 km·h was improved (-8.2 ± 6.9%; ES: -0.7 ± 0.5), but changes to V[Combining Dot Above]O2peak, HRpeak, and lactate were unclear. In summary, acutely IHE resulted in worthwhile changes in physical performance tests among competitive basketball players. However, physiological measures explaining the performance enhancement were in most part unclear. PMID:26677826

  9. Phase II study of profiromycin vs mitomycin-C utilizing acute intermittent schedules.

    Baker, L H; Izbicki, R M; Vaitkevicius, V K

    1976-01-01

    A randomized prosective study of Mitomycin-C and its N-methyl derivative, Porfiromycin, was conducted. Thirty-two patients with disseminated gastrointestinal cancer or other disseminated abdominal adenocarcinoma were treated with Mitomycin-C; 31 patients received Porfiromycin. Both drugs were given by acute intermittent bolus schedule (Mitomucin-C , 22.5 mg/M2 or Porfiromycin, 75 mg/M2 every 6--8 weeks as a single bolus i.v. injection). Eleven patients (34%) who received Mitomycin-C entered into partial remission. In 10 of the 31 patients (32%) receiving Porfiromycin, partial remission occured. Analysis by tumor type demonstrated that in the Mitomycin-C treated group responses occured in 4 of 12 patients with colorectal carcinoma, in 4 of 9 with upper GI cancers, and in 3 of 11 with ovarian cancer. Correspondingly in Porfiromycin group responses occured in 2 of 12 colorectal carcinoma patients, in 3 of 7 upper GI cancer patients, and in 5 of 12 ovarian cancer patients. Both drugs produced significant myelosuppression; however, Porfiromycin toxicity appeared more cumulative. Further clinical trial of Mitomycin in an acute intermittent bolus schedule appears justified. PMID:958162

  10. Congenital erythropoietic porphyria in three siblings.

    Bari, Arfan Ul

    2007-01-01

    Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis. PMID:17921617

  11. Congenital erythropoietic porphyria in three siblings

    Bari Arfan Ul

    2007-01-01

    Full Text Available Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis.

  12. Diagnostic Value of 99mTc-DISIDA hepatobiliary Scintigraphy in Patients with Acute or Intermittent Common Bile Duct Obstruction

    We examined patients with suspected acute or intermittent biliary obstruction using hepatobiliary scintigraphy, ultrasonography and contrast cholangiography. Of 16 patients with confirmed common bile duct obstruction, sonography and scintigraphy disagreed in 8(50%). Scintigraphy revealed partial or complete common bile duct obstruction in 13 patients (81.3%) and 6 of them had no evidence of dilated biliary trees. It is concluded that disagreement between sonography and scintigraphy is not rare in patients with acute or intermittent biliary obstruction and hepatobiliary scintigraphy is useful in diagnosing obstruction prior to ductal dilatation.

  13. [Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)].

    Kürten, V; Neumann, N J; Frank, J

    2016-03-01

    The porphyrias comprise a clinically, biochemically, and genetically heterogeneous group of predominantly hereditary metabolic disorders resulting from a dysfunction along the heme biosynthetic pathway. Whereas most variants can manifest with different cutaneous symptoms, some types only reveal life-threatening acute neurovisceral attacks. Therefore, interdisciplinary care of these patients is advisable. In this article, we provide an overview of characteristic clinical and laboratory findings in the various forms of porphyria and a diagnostic algorithm. PMID:26743052

  14. New developments in erythropoietic porphyrias.

    Darwich, E; Herrero, C

    2013-04-01

    In recent years, important advances have been made in our understanding of the genetics of porphyrias, particularly with respect to erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP), 2 forms of erythropoietic porphyria no longer considered to be monogenic. The identification of mutations in genes not previously associated with these disorders as causative factors or modulators of severity has helped to explain the presence of genotypic and phenotypic differences between patients carrying the same mutations. These advances have also led to the identification of causative genetic defects in patients who, based on molecular studies, had no mutations in the uroporphyrinogen III synthase gene UROS (in CEP) or in the ferrochelatase gene FECH (in EPP). Better understanding and characterization of the genetics of porphyrias will allow us to determine genotypic and phenotypic correlations and improve the molecular classification of these diseases, which will have both practical and prognostic implications. PMID:22766189

  15. Erythrodontia in congenital erythropoietic porphyria

    Rashmi Bhavasar

    2011-01-01

    Full Text Available Congenital erythropoietic porphyria (CEP is one of the rarest of porphyrias occurring worldwide. CEP is a very rare genetic autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity, hemolytic anemia with splenomegaly and a decreased life expectancy. We report a case of Günther′s disease in view of its rarity along with a description of this interesting condition. An 18-month-old female baby with clinical, hematological and biochemical profile of CEP was reported with marked skin photosensitivity over face and hands. She had erythrodontia with delayed eruption of teeth. When evaluating erythrodontia of uncertain cause, we advocate maintaining a high degree of awareness for porphyria, especially for CEP as it is the rarest among porphyria and is a life-threatening condition.

  16. Porphyria: Pathophysiology, diagnosis, and treatment.

    Gasson, Tracy; Klein, Kathleen

    2015-08-15

    Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. Most of these conditions are inherited; however, some are believed to be acquired through environmental exposures. Patients with porhyrias often present with a wide range of clinical symptoms, making it difficult to diagnose. Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis. PMID:26180905

  17. Porphyria cutanea tarda responding to spirulina

    Pavithran K; Nair P

    1992-01-01

    A male patient of porphyria cutanea tarda responded to oral spirulina - an alga rich in beta - carotene. The beta - carotene in the spirulina quenches the singlet oxygen which is responsible for the tissue damage in porphyria-associated photosensitivity.

  18. Porphyria Cutanea Tarda and Agent Orange

    ... ZIP code here Porphyria Cutanea Tarda and Agent Orange VA presumes porphyria cutanea tarda (PCT) is related to Veterans' exposure to Agent Orange or other herbicides during military service when the ...

  19. Porphyria cutanea tarda and Sjogren's syndrome *

    Fang, Su; Sun, Xiao Jie; Wang, ZanFeng; Song, DanYang; LI, TIENAN

    2014-01-01

    Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.

  20. Sleep state dependence of ventilatory long-term facilitation following acute intermittent hypoxia in Lewis rats.

    Nakamura, A; Olson, E B; Terada, J; Wenninger, J M; Bisgard, G E; Mitchell, G S

    2010-08-01

    Ventilatory long-term facilitation (vLTF) is a form of respiratory plasticity induced by acute intermittent hypoxia (AIH). Although vLTF has been reported in unanesthetized animals, little is known concerning the effects of vigilance state on vLTF expression. We hypothesized that AIH-induced vLTF is preferentially expressed in sleeping vs. awake male Lewis rats. Vigilance state was assessed in unanesthetized rats with chronically implanted EEG and nuchal EMG electrodes, while tidal volume, frequency, minute ventilation (Ve), and CO(2) production were measured via plethysmography, before, during, and after AIH (five 5-min episodes of 10.5% O(2) separated by 5-min normoxic intervals), acute sustained hypoxia (25 min of 10.5% O(2)), or a sham protocol without hypoxia. Vigilance state was classified as quiet wakefulness (QW), light and deep non-rapid eye movement (NREM) sleep (l-NREM and d-NREM sleep, respectively), or rapid eye movement sleep. Ventilatory variables were normalized to pretreatment baseline values in the same vigilance state. During d-NREM sleep, vLTF was observed as a progressive increase in Ve post-AIH (27 + or - 5% average, 30-60 min post-AIH). In association, Ve/Vco(2) (36 + or - 2%), tidal volume (14 + or - 2%), and frequency (7 + or - 2%) were increased 30-60 min post-AIH during d-NREM sleep. vLTF was significant but less robust during l-NREM sleep, was minimal during QW, and was not observed following acute sustained hypoxia or sham protocols in any vigilance state. Thus, vLTF is state-dependent and pattern-sensitive in unanesthetized Lewis rats, with the greatest effects during d-NREM sleep. Although the physiological significance of vLTF is not clear, its greatest significance to ventilatory control is most likely during sleep. PMID:20360430

  1. Chronic intermittent hypoxia alters ventilatory and metabolic responses to acute hypoxia in rats.

    Morgan, Barbara J; Adrian, Russell; Wang, Zun-Yi; Bates, Melissa L; Dopp, John M

    2016-05-15

    We determined the effects of chronic exposure to intermittent hypoxia (CIH) on chemoreflex control of ventilation in conscious animals. Adult male Sprague-Dawley rats were exposed to CIH [nadir oxygen saturation (SpO2), 75%; 15 events/h; 10 h/day] or normoxia (NORM) for 21 days. We assessed the following responses to acute, graded hypoxia before and after exposures: ventilation (V̇e, via barometric plethysmography), V̇o2 and V̇co2 (analysis of expired air), heart rate (HR), and SpO2 (pulse oximetry via neck collar). We quantified hypoxia-induced chemoreceptor sensitivity by calculating the stimulus-response relationship between SpO2 and the ventilatory equivalent for V̇co2 (linear regression). An additional aim was to determine whether CIH causes proliferation of carotid body glomus cells (using bromodeoxyuridine). CIH exposure increased the slope of the V̇e/V̇co2/SpO2 relationship and caused hyperventilation in normoxia. Bromodeoxyuridine staining was comparable in CIH and NORM. Thus our CIH paradigm augmented hypoxic chemosensitivity without causing glomus cell proliferation. PMID:26917692

  2. Clinical Characteristics and 30-Day Outcomes of Intermittent Hemodialysis for Acute Kidney Injury in an African Intensive Care Unit

    Arthur Kwizera; Janat Tumukunde; Lameck Ssemogerere; Emmanuel Ayebale; Peter Agaba; Jamali Yakubu; Aggrey Lubikire; Mary Nabukenya; Robert Kalyesubula

    2016-01-01

    Introduction. Acute kidney injury (AKI) is a common occurrence in the intensive care unit (ICU). Studies have looked at outcomes of renal replacement therapy using intermittent haemodialysis (IHD) in ICUs with varying results. Little is known about the outcomes of using IHD in resource-limited settings where continuous renal replacement therapy (CRRT) is limited. We sought to determine outcomes of IHD among critically ill patients admitted to a low-income country ICU. Methods. A retrospective...

  3. Hepatoerythropoietic porphyria precipitated by viral hepatitis.

    Hift, R J; Meissner, P N; Todd, G.

    1993-01-01

    Porphyria cutanea tarda (PCT), the condition resulting from a deficiency of hepatic uroporphyrinogen decarboxylase activity, is the commonest form of porphyria. Both acquired and familial form exist and are commonly associated in adults with liver disease and hepatic iron overload. The condition is extremely rare in children; most cases of childhood PCT are familial and some particularly severe cases have been shown to have a hepatoerythropoietic porphyria or homozygous uroporphyrinogen decar...

  4. PORPHYRIA : THE DISEASE THAT CALLS FOR AWARENESS

    Ravi R; Swati D

    2015-01-01

    Porphyria is a relatively uncommon condition and it should be considered in patients presenting with atypical medical , psychiatric , or surgical history. Paucity of clinical recognition of porphyria often delays diagnosis and consequently treatment. Also , signs and symptoms mimic other common medical and surgical conditions. So , awareness of porphyria alon g with proper and accurate diagnostic tests in conjunction could be of great boon to su...

  5. Diaphragm long-term facilitation following acute intermittent hypoxia during wakefulness and sleep.

    Terada, J; Mitchell, G S

    2011-05-01

    Acute intermittent hypoxia (AIH) elicits a form of respiratory plasticity known as long-term facilitation (LTF). Here, we tested four hypotheses in unanesthetized, spontaneously breathing rats using radiotelemetry for EEG and diaphragm electromyography (Dia EMG) activity: 1) AIH induces LTF in Dia EMG activity; 2) diaphragm LTF (Dia LTF) is more robust during sleep vs. wakefulness; 3) AIH (or repetitive AIH) disrupts natural sleep-wake architecture; and 4) preconditioning with daily AIH (dAIH) for 7 days enhances Dia LTF. Sleep-wake states and Dia EMG were monitored before (60 min), during, and after (60 min) AIH (10, 5-min hypoxic episodes, 5-min normoxic intervals; n = 9), time control (continuous normoxia, n = 8), and AIH following dAIH preconditioning for 7 days (n = 7). Dia EMG activities during quiet wakefulness (QW), rapid eye movement (REM), and non-REM (NREM) sleep were analyzed and normalized to pre-AIH values in the same state. During NREM sleep, diaphragm amplitude (25.1 ± 4.6%), frequency (16.4 ± 4.7%), and minute diaphragm activity (amplitude × frequency; 45.2 ± 6.6%) increased above baseline 0-60 min post-AIH (all P 0.05). We conclude that 1) AIH induces Dia LTF during NREM sleep and wakefulness; 2) Dia LTF is greater in NREM sleep vs. QW and is abolished during REM sleep; 3) AIH and repetitive AIH disrupt natural sleep patterns; and 4) Dia LTF is unaffected by dAIH. The capacity for plasticity in spinal pump muscles during sleep and wakefulness suggests an important role in the neural control of breathing. PMID:21372099

  6. Repetitive acute intermittent hypoxia increases growth/neurotrophic factor expression in non-respiratory motor neurons.

    Satriotomo, I; Nichols, N L; Dale, E A; Emery, A T; Dahlberg, J M; Mitchell, G S

    2016-05-13

    Repetitive acute intermittent hypoxia (rAIH) increases growth/trophic factor expression in respiratory motor neurons, thereby eliciting spinal respiratory motor plasticity and/or neuroprotection. Here we demonstrate that rAIH effects are not unique to respiratory motor neurons, but are also expressed in non-respiratory, spinal alpha motor neurons and upper motor neurons of the motor cortex. In specific, we used immunohistochemistry and immunofluorescence to assess growth/trophic factor protein expression in spinal sections from rats exposed to AIH three times per week for 10weeks (3×wAIH). 3×wAIH increased brain-derived neurotrophic factor (BDNF), its high-affinity receptor, tropomyosin receptor kinase B (TrkB), and phosphorylated TrkB (pTrkB) immunoreactivity in putative alpha motor neurons of spinal cervical 7 (C7) and lumbar 3 (L3) segments, as well as in upper motor neurons of the primary motor cortex (M1). 3×wAIH also increased immunoreactivity of vascular endothelial growth factor A (VEGFA), the high-affinity VEGFA receptor (VEGFR-2) and an important VEGF gene regulator, hypoxia-inducible factor-1α (HIF-1α). Thus, rAIH effects on growth/trophic factors are characteristic of non-respiratory as well as respiratory motor neurons. rAIH may be a useful tool in the treatment of disorders causing paralysis, such as spinal injury and motor neuron disease, as a pretreatment to enhance motor neuron survival during disease, or as preconditioning for cell-transplant therapies. PMID:26944605

  7. Porphyria and pregnancy. Case report

    Noemí Martínez

    2011-03-01

    Full Text Available The porphyrias are a group of diseases caused by a deficiency of enzymes responsible for the synthesis of heme, that can lead to severe disease that requires early diagnosis to avoid complications. The frequency of the disease is low and its association with pregnancy unusual, but it is a good time for patients carrying develop the disease or suffer an exacerbation of the same, hence the vital importance of prophylaxis of the factors risk.

  8. Porphyria and pregnancy. Case report

    Noemí Martínez

    2011-04-01

    Full Text Available The porphyrias are a group of diseases caused by a deficiency of enzymes responsible for the synthesis of heme, that can lead to severe disease that requires early diagnosis to avoid complications. The frequency of the disease is low and its association with pregnancy unusual, but it is a good time for patients carrying develop the disease or suffer an exacerbation of the same, hence the vital importance of prophylaxis of the factors risk.

  9. Porphyria cutanea tarda responding to spirulina

    Pavithran K

    1992-01-01

    Full Text Available A male patient of porphyria cutanea tarda responded to oral spirulina - an alga rich in beta - carotene. The beta - carotene in the spirulina quenches the singlet oxygen which is responsible for the tissue damage in porphyria-associated photosensitivity.

  10. Effect of Acute Intermittent CPAP Depressurization during Sleep in Obese Patients

    Jun, Jonathan C.; Unnikrishnan, Dileep; Schneider, Hartmut; Kirkness, Jason; Schwartz, Alan R.; Philip L. Smith; Polotsky, Vsevolod Y.

    2016-01-01

    Background Obstructive Sleep Apnea (OSA) describes intermittent collapse of the airway during sleep, for which continuous positive airway pressure (CPAP) is often prescribed for treatment. Prior studies suggest that discontinuation of CPAP leads to a gradual, rather than immediate return of baseline severity of OSA. The objective of this study was to determine the extent of OSA recurrence during short intervals of CPAP depressurization during sleep. Methods Nine obese (BMI = 40.4 ± 3.5) subje...

  11. PORPHYRIA : THE DISEASE THAT CALLS FOR AWARENESS

    Ravi R

    2015-01-01

    Full Text Available Porphyria is a relatively uncommon condition and it should be considered in patients presenting with atypical medical , psychiatric , or surgical history. Paucity of clinical recognition of porphyria often delays diagnosis and consequently treatment. Also , signs and symptoms mimic other common medical and surgical conditions. So , awareness of porphyria alon g with proper and accurate diagnostic tests in conjunction could be of great boon to surpass the formidable challenges put forth by porphyric patients. Here , we present a case of 24 year old woman who suffers from porphyria and ultimately dies because of inappropriateness in diagnosis on the part of physicians which is due to lack of awareness and strong clinically suspicious eye.

  12. Congenital erythropoietic porphyria with hemolytic anemia

    Massod Qazi

    2005-01-01

    Full Text Available A 15 year old boy with clinical, hematological and biochemical profile of congenital erythropoietic porphyria with hemolytic anemia is being reported in view of the rarity of this condition.

  13. Porphyria: A Suitable Case for Teaching.

    Hawkey, Roy

    1990-01-01

    The porphyrias are a family of genetic disorders whose genetics and biochemistry are largely identified. Background information on these diseases are discussed including porphyrins, gene expression, population genetics, and historical significance. (CW)

  14. Intermittent Exposure to Social Defeat and Open-field Test in Rats : Acute and Long-term Effects on ECG, Body Temperature and Physical Activity

    Sgoifo, Andrea; Pozzato, Chiara; Meerlo, Peter; Costoli, Tania; Manghi, Massimo; Stilli, Donatella; Olivetti, Giorgio; Musso, Ezio

    2002-01-01

    This study investigated the effects of exposure to an intermittent homotypic stressor on: (i) habituation of acute autonomic responsivity (i.e. cardiac sympathovagal balance and susceptibility to arrhythmias), and (ii) circadian rhythmicity of heart rate, body temperature, and physical activity. Aft

  15. Sporadic porphyria cutanea tarda due to haemochromatosis

    Geus, Hilde; Dees, A.

    2006-01-01

    textabstractHaemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning...

  16. The effects of acute intermittent hypoxia on cardiovascular parameters in normotensive and chronic hypobaric hypoxia-induced hypertensive rabbits.

    Yaman, Muhittin O; Guner, Ibrahim; Uzun, Hafize; Sahin, Gulderen; Yelmen, Nermin

    2014-01-01

    The effects of both chronic hypoxia and acute intermittent hypoxia (AIH) on cardiovascular system are unclear. We designed this study to develop a rabbit model of hypertension by exposure to chronic hypobaric hypoxia (CHH) and to investigate the effects of AIH on hypertensive rabbits. Present study was performed in 13 albino rabbits that divided into CHH and control groups. To develop hypertension, the rabbits were placed in a hypobaric chamber (390 mmHg; 22 hours/day, 30 days). Afterwards, AIH protocol was applied (8% FIO2 (Fraction of Inspired Oxygen) 1 min + 5 min normoxia, 20 cycles, 2 hours) to rabbits anesthetized with urethane and alpha-chloralose. Mean arterial pressure (MAP), heart rate (HR) and hematocrit values have been determined. Also asymmetric dimethylarginine (ADMA), endothelial nitric oxide synthase (eNOS), endothelin-1 and norepinephrine values have been analyzed in blood. We developed a model of hypertension in rabbits via exposure to severe CHH and we believe that ADMA is an important parameter in the development and permanence of CHH-induced hypertension. The main finding of this sudy was the depressor effect of AIH on blood pressure and heart rate in CHH- induced hypertension model. Finally, we believe that AIH protocol may be applicable for prevention and treatment of hypertension if properly developed. PMID:24448370

  17. Clinical Characteristics and 30-Day Outcomes of Intermittent Hemodialysis for Acute Kidney Injury in an African Intensive Care Unit

    Tumukunde, Janat; Ssemogerere, Lameck; Ayebale, Emmanuel; Agaba, Peter; Yakubu, Jamali; Lubikire, Aggrey; Nabukenya, Mary

    2016-01-01

    Introduction. Acute kidney injury (AKI) is a common occurrence in the intensive care unit (ICU). Studies have looked at outcomes of renal replacement therapy using intermittent haemodialysis (IHD) in ICUs with varying results. Little is known about the outcomes of using IHD in resource-limited settings where continuous renal replacement therapy (CRRT) is limited. We sought to determine outcomes of IHD among critically ill patients admitted to a low-income country ICU. Methods. A retrospective review of patient records was conducted. Patients admitted to the ICU who underwent IHD for AKI were included in the study. Patients' demographic and clinical characteristics, cause of AKI, laboratory parameters, haemodialysis characteristics, and survival were interpreted and analyzed. Primary outcome was mortality. Results. Of 62 patients, 40 had complete records. Median age of patients was 38.5 years. Etiologic diagnoses associated with AKI included sepsis, malaria, and ARDS. Mortality was 52.5%. APACHE II (OR 4.550; 95% CI 1.2–17.5, p = 0.028), mechanical ventilation (OR 13.063; 95% CI 2.3–72, p = 0.003), and need for vasopressors (OR 16.8; 95% CI 3.4–82.6, p = 0.001) had statistically significant association with mortality. Conclusion. IHD may be a feasible alternative for RRT in critically ill haemodynamically stable patients in low resource settings where CRRT may not be available. PMID:27042657

  18. Congenital erythropoietic porphyria: Two case reports

    Sankha Koley

    2011-01-01

    Full Text Available Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times and a clinician may not see a case during his professional life. We present two cases of CEP. One child with CEP presented with typical infancy-onset blistering, photosensitivity, red urine, and erythrodontia, with hypertrichosis of the upper arms and back. The other child of CEP presented with childhood-onset blistering, mutilation, and hypertrichosis on the face.

  19. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

    De Verneuil, H.; Beaumont, C; Deybach, J C; Nordmann, Y; Sfar, Z; Kastally, R

    1984-01-01

    Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). In HEP patients, enzyme activities were 5% of normal, and familial studies clearly confirmed that patients with HEP are cases of homozygous PCT. Immunoreactive uroporphyrinogen decarboxylase was measured by developing a direct and noncompetitive enzyme immunoassay (EIA). For the 1...

  20. Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services

    Tollånes Mette C; Aarsand Aasne K; Villanger Jørild Haugen; Støle Egil; Deybach Jean-Charles; Marsden Joanne; To-Figueras Jordi; Sandberg Sverre

    2012-01-01

    Abstract Background The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Initiative (EPI), a collaborative network of porphyria centres formed in 2001, evolved in 2007 into the European Porphyria Network (EPNET), where participating centres are required to adhere to agreed quality criteria. The aim of this study was to examine the state and d...

  1. Intermittent exposure to social defeat and open-field test in rats: acute and long-term effects on ECG, body temperature and physical activity.

    Sgoifo, Andrea; Pozzato, Chiara; Meerlo, Peter; Costoli, Tania; Manghi, Massimo; Stilli, Donatella; Olivetti, Giorgio; Musso, Ezio

    2002-02-01

    This study investigated the effects of exposure to an intermittent homotypic stressor on: (i) habituation of acute autonomic responsivity (i.e. cardiac sympathovagal balance and susceptibility to arrhythmias), and (ii) circadian rhythmicity of heart rate, body temperature, and physical activity. After implantation of a transmitter for the radiotelemetric recording of electrocardiogram (ECG), body temperature and physical activity, adult male rats (Rattus norvegicus, Wild Type Groningen strain) were repeatedly exposed (10 consecutive times, on alternate days) to either a social stressor (defeat by a con-specific, n = 15) or an open-field, control challenge (transfer to a new cage; n = 8). ECGs, body temperature and physical activity were continuously recorded in baseline, test and recovery periods (each lasting 15 min), at the 1st and 10th episodes of both defeat and open-field challenge. The circadian rhythms of heart rate, body temperature and physical activity were monitored before (5 days), during (16 days) and after (21 days) the intermittent stress protocol. This study indicates that there is no clear habituation of either acute cardiac autonomic responsivity (as estimated by means of time-domain indexes of heart rate variability) or arrhythmia occurrence to a brief, intermittent, homotypic challenge, regardless of the nature of the stressor (social or non-social). On the other hand, rats exposed to social challenge also failed to show adaptation of acute temperature and activity stress responsiveness, whereas rats facing open-field challenge developed habituation of activity and sensitization of temperature responses. Repeated social challenge produced remarkable reductions of the heart rate circadian rhythm amplitude (this effect being significantly greater than that produced by intermittent open-field), but only minor changes in the daily rhythms of body temperature and physical activity. PMID:12171764

  2. Intermittent use of amifostine during postoperative radiochemotherapy and acute toxicity in rectal cancer patients

    From September 1997 through October 1998, 30 patients with stage II/III rectal cancer underwent postoperative radiochemotherapy at our department. All patients had undergone curative (R0) resection and received 50.4 Gy to the pelvis with a 3-field technique using a belly board followed by a boost of 5.4 Gy to the presacral space in conventional fractionation with 1.8 Gy per fraction. 5-FU chemotherapy was administered as 120-hours continuous infusion in the first and fifth radiation week via a central venous catheter in a daily dosage of 1000 mg/m2. All patients were offered to participate in a phase-II study using additional amifostine. Fifteen patients participated and received 500 mg amifostine daily on chemotherapy days (days 1 to 5 and 29 to 33) immediately prior to the daily radiation fraction. Fifteen patients did not participate and served as non-randomized control. The study was approved by the ethical committee of the Martin-Luter-University and informed consent was obtained from all patients. Results: The distribution of patients' characteristics and prognostic parameters was comparable in both groups. Side effects of amifostine were mild and included hypotension (53% grade I, 7% grade II) and nausea (47% grade I, 13% grade II). Antiemetics were not routinely used. All patients completed radiochemotherapy plus amifostine without unplanned breaks or dose reductions. One patients developed a cerebral infraction which was considered to be not related to the use of amifostine. As compared to the non-randomized control group, patients with additional amifostine had less acute skin and bowel toxicity (maximum erythema score 1.47±0.64 without vs 0.87±0.52 with amifostine, p=0.009 and maximum diarrhea score 1.07±1.03 vs 0.40±0.63, p=0.044). Oral 5-FU-related mucositis and hematological toxicity were not significantly different. (orig.)

  3. Herbicide-induced experimental variegate porphyria in mice: tissue porphyrinogen accumulation and response to porphyrogenic drugs.

    Krijt, J; Stranska, P; Maruna, P; Vokurka, M; Sanitrak, J

    1997-01-01

    Administration of oxadiazon or oxyfluorfen (1000 ppm in the diet) to male BALB/c mice for 9 days resulted in experimental porphyria, resembling the acute phase of human variegate porphyria. Urinary concentrations of 5-aminolevulinic acid and porphobilinogen reached 1500 and 3000 mumol/L, respectively. Both herbicides caused a decrease of protoporphyrinogen oxidase activity in liver and kidney. Brain protoporphyrinogen oxidase activity was not altered. Liver and kidney porphyrin content increased to 11 and 17 nmol/g, respectively (control mice, 2 nmol/g). Over 50% of liver and kidney porphyrins were in the reduced (porphyrinogen) form. Bile of oxadiazon-treated mice contained 700 nmol/mL of protoporphyrinogen (control mice, 15 nmol/mL). Porphyrin content of the trigeminal nerve increased from 1 nmol/g in control animals to 11 nmol/g in oxadiazon-treated animals, suggesting a possible contribution of peripheral nerve porphyrins to porphyric neuropathy. Mice treated with 125 ppm of oxadiazon in the diet for 9 days excreted moderately elevated levels of porphobilinogen in urine (control mice, less than 50 mumol/L; treated mice, 330 mumol/L). Administration of phenobarbital or phenytoin (single injections on days 7, 8, and 9) increased the urinary porphobilinogen concentration to 3500 mumol/L. This response to porphyrogenic drugs resembles the response observed in human acute porphyrias. PMID:9431441

  4. Intermittent use of amifostine during postoperative radiochemotherapy and acute toxicity in rectal cancer patients

    Dunst, J.; Semlin, S.; Pigorsch, S.; Mueller, A.C.; Reese, T. [Halle-Wittenberg Univ., Halle (Germany). Abt. fuer Radiotherapie

    2000-09-01

    From September 1997 through October 1998, 30 patients with stage II/III rectal cancer underwent postoperative radiochemotherapy at our department. All patients had undergone curative (R0) resection and received 50.4 Gy to the pelvis with a 3-field technique using a belly board followed by a boost of 5.4 Gy to the presacral space in conventional fractionation with 1.8 Gy per fraction. 5-FU chemotherapy was administered as 120-hours continuous infusion in the first and fifth radiation week via a central venous catheter in a daily dosage of 1000 mg/m{sup 2}. All patients were offered to participate in a phase-II study using additional amifostine. Fifteen patients participated and received 500 mg amifostine daily on chemotherapy days (days 1 to 5 and 29 to 33) immediately prior to the daily radiation fraction. Fifteen patients did not participate and served as non-randomized control. The study was approved by the ethical committee of the Martin-Luter-University and informed consent was obtained from all patients. Results: The distribution of patients' characteristics and prognostic parameters was comparable in both groups. Side effects of amifostine were mild and included hypotension (53% grade I, 7% grade II) and nausea (47% grade I, 13% grade II). Antiemetics were not routinely used. All patients completed radiochemotherapy plus amifostine without unplanned breaks or dose reductions. One patients developed a cerebral infraction which was considered to be not related to the use of amifostine. As compared to the non-randomized control group, patients with additional amifostine had less acute skin and bowel toxicity (maximum erythema score 1.47{+-}0.64 without vs 0.87{+-}0.52 with amifostine, p=0.009 and maximum diarrhea score 1.07{+-}1.03 vs 0.40{+-}0.63, p=0.044). Oral 5-FU-related mucositis and hematological toxicity were not significantly different. (orig.) [German] Zwischen September 1997 und Oktober 1998 wurden 15 Patienten mit postoperativer

  5. Porphyria cutanea tarda in a HIV- positive patient.

    Franzon, Valéria Aparecida Zanela; Mikilita, Emanuella Stella; Camelo, Fernanda Henriques; Camargo, Rosana

    2016-01-01

    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. PMID:27579753

  6. Porphyria cutanea tarda in a HIV- positive patient*

    Franzon, Valéria Aparecida Zanela; Mikilita, Emanuella Stella; Camelo, Fernanda Henriques; Camargo, Rosana

    2016-01-01

    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. PMID:27579753

  7. Energy intermittency

    Sorensen, Bent

    2014-01-01

    The first book to consider intermittency as a key point of an energy system, Energy Intermittency describes different levels of variability for traditional and renewable energy sources, presenting detailed solutions for handling energy intermittency through trade, collaboration, demand management, and active energy storage. Addressing energy supply intermittency systematically, this practical text:Analyzes typical time-distributions and intervals between episodes of demand-supply mismatch and explores their dependence on system layouts and energy source characteristicsSimulates scenarios regar

  8. Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda.

    Guha, Sibashish Kamal; Bandyopadhyay, Debabrata; Saha, Abanti; Lal, Niharika Ranjan

    2016-01-01

    Porphyria cutanea tarda (PCT), a relatively uncommon metabolic disease, is the most common cutaneous porphyria. Here, we present the case of a patient diagnosed with sporadic, nonfamilial PCT that presented with classical cutaneous findings and multiple risk factors, including alcohol abuse, human immunodeficiency virus/AIDS, that have been strongly associated with the sporadic form of PCT. PMID:27293254

  9. Human immunodeficiency virus associated sporadic nonfamilial porphyria cutanea tarda

    Sibashish Kamal Guha; Debabrata Bandyopadhyay; Abanti Saha; Niharika Ranjan Lal

    2016-01-01

    Porphyria cutanea tarda (PCT), a relatively uncommon metabolic disease, is the most common cutaneous porphyria. Here, we present the case of a patient diagnosed with sporadic, nonfamilial PCT that presented with classical cutaneous findings and multiple risk factors, including alcohol abuse, human immunodeficiency virus/AIDS, that have been strongly associated with the sporadic form of PCT.

  10. Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda

    Guha, Sibashish Kamal; Bandyopadhyay, Debabrata; Saha, Abanti; Lal, Niharika Ranjan

    2016-01-01

    Porphyria cutanea tarda (PCT), a relatively uncommon metabolic disease, is the most common cutaneous porphyria. Here, we present the case of a patient diagnosed with sporadic, nonfamilial PCT that presented with classical cutaneous findings and multiple risk factors, including alcohol abuse, human immunodeficiency virus/AIDS, that have been strongly associated with the sporadic form of PCT.

  11. Acute Flaccid paralysis in adults: Our experience

    Rupesh Kaushik

    2014-01-01

    Full Text Available Acute flaccid paralysis (AFP is a complex clinical syndrome with a broad array of potential etiologies that vary with age. We present our experience of acute onset lower motor neuron paralysis. Materials and Methods: One hundred and thirty-three consecutive adult patients presenting with weakness of duration less than four weeks over 12 months period were enrolled. Detailed history, clinical examination, and relevant investigations according to a pre-defined diagnostic algorithm were carried out. The patients were followed through their hospital stay till discharge or death. Results: The mean age was 33.27 (range 13-89 years with male preponderance (67.7%. The most common etiology was neuroparalytic snake envenomation (51.9%, followed by Guillain Barre syndrome (33.1%, constituting 85% of all patients. Hypokalemic paralysis (7.5% and acute intermittent porphyria (4.5% were the other important conditions. We did not encounter any case of acute polio mylitis in adults. In-hospital mortality due to respiratory paralysis was 9%. Conclusion: Neuroparalytic snakebite and Guillain Barre syndrome were the most common causes of acute flaccid paralysis in adults in our study.

  12. Porphyria and radiotherapy: yet a constellation of risk?

    Background: little is known concerning the relation of porphyrias to radiation treatment for cancer. The recent literature does not report negative outcomes at least in single cases of breast cancer, bladder cancer or in a patient with lymphoma. Theoretically, there is a risk for radiation treatment in cases of porphyrias. Case report: two patients with porphyria are described who underwent radiotherapy for glioblastoma multiforme. Case histories, radiation treatment data and the proof of porphyria are given in detail. The patients received a concomitant radiochemotherapy with infusions of ACNU [1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-(2-chloroethyl)-3-nitrosourea] every 6 weeks. The total radiation doses at the ICRU point were 60 and 38 Gy, respectively, given in single daily fractions of 2 Gy. Results: both patients responded well as far as objective tumor regression is concerned but died early after 7 and 1.5 months following diagnosis. The first patient experienced a large brain necrosis and deterioration of her porphyria. The second patient died of cardiopulmonary insufficiency still during radiotherapy with persistent or even increased signs of porphyria. The tumor showed extensive necrosis already after 38 Gy. Conclusion: in view of annotations in the literature and this case report, caution is advised as for irradiation of brain or nervous tissues in case of porphyrias. Molecular biology data seems to support this warning to some extent. (orig.)

  13. HAART: a risk factor for development of porphyria cutanea tarda?

    Fred Bernardes Filho

    2012-12-01

    Full Text Available Porphyria cutanea tarda (PCT is caused by inherited or acquired partial deficiency of the uroporphyrinogen-decarboxylase (Uro-D enzyme activity. It is the most common form of porphyria. The main triggering factors to the development of porphyria cutanea tarda are alcohol, hepatitis C virus and human immunodeficiency virus. There are several reports of PCT associated with drugs, among them, antiretroviral therapy. We describe three HIV-positive patients, which showed photosensitivity as well as the emergence of tense blisters on sun-exposed areas during the use of highly active antiretroviral therapy (HAART and discuss the possibility of PCT after the use of these drugs by those patients.

  14. Acute intermittent hypoxia-induced expression of Brain-Derived Neurotrophic Factor is disrupted in the brainstem of mecp2 null mice

    Vermehren-Schmaedick, Anke; Jenkins, Victoria K.; Knopp, Sharon J.; Balkowiec, Agnieszka; Bissonnette, John M.

    2012-01-01

    Rett syndrome is a neurodevelopmental disorder caused by loss of function mutations in the gene encoding the transcription factor methyl-CpG-binding protein 2 (MeCP2). One of its targets is the gene encoding brain-derived neurotrophic factor (bdnf). In vitro studies using cultured neurons have produced conflicting results with respect to the role of MeCP2 in BDNF expression. Acute intermittent hypoxia (AIH) induces plasticity in the respiratory system characterized by long-term facilitation of phrenic nerve amplitude. This paradigm induces an increase in BDNF protein. We hypothesized that AIH leads to augmentation of BDNF transcription in respiratory-related areas of the brainstem and that MeCP2 is necessary for this process. Wild-type and mecp2 null (mecp2−/y) mice were subjected to three 5-min episodes of exposure to 8% O2/4% CO2/88% N2, delivered at 5-min intervals. Normoxia control wild-type and mecp2 null mice were exposed to room air for the total length of time, i.e. 30 min. Following a recovery in room air, the pons and medulla were rapidly removed. Expression of BDNF protein and transcripts were determined by ELISA and quantitative PCR, respectively. AIH induced a significant increase in BDNF protein in the pons and medulla, and in mRNA transcript levels in the pons of wild-type animals. In contrast, there were no significant changes in either BDNF protein or transcripts in the pons or medulla of mice lacking Mecp2. The results indicate that Mecp2 is required for regulation of BDNF expression by acute intermittent hypoxia in vivo. PMID:22297041

  15. Acute intermittent hypoxia-induced expression of brain-derived neurotrophic factor is disrupted in the brainstem of methyl-CpG-binding protein 2 null mice.

    Vermehren-Schmaedick, A; Jenkins, V K; Knopp, S J; Balkowiec, A; Bissonnette, J M

    2012-03-29

    Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding the transcription factor methyl-CpG-binding protein 2 (MeCP2). One of its targets is the gene encoding brain-derived neurotrophic factor (bdnf). In vitro studies using cultured neurons have produced conflicting results with respect to the role of MeCP2 in BDNF expression. Acute intermittent hypoxia (AIH) induces plasticity in the respiratory system characterized by long-term facilitation of phrenic nerve amplitude. This paradigm induces an increase in BDNF protein. We hypothesized that AIH leads to augmentation of BDNF transcription in respiratory-related areas of the brainstem and that MeCP2 is necessary for this process. Wild-type and mecp2 null (mecp2(-/y)) mice were subjected to three 5-min episodes of exposure to 8% O(2)/4% CO(2)/88% N(2), delivered at 5-min intervals. Normoxia control wild-type and mecp2 null mice were exposed to room air for the total length of time, that is, 30 min. Following a recovery in room air, the pons and medulla were rapidly removed. Expression of BDNF protein and transcripts were determined by ELISA and quantitative PCR, respectively. AIH induced a significant increase in BDNF protein in the pons and medulla, and in mRNA transcript levels in the pons of wild-type animals. In contrast, there were no significant changes in either BDNF protein or transcripts in the pons or medulla of mice lacking MeCP2. The results indicate that MeCP2 is required for regulation of BDNF expression by acute intermittent hypoxia in vivo. PMID:22297041

  16. A comparison of synchronized intermittent mandatory ventilation and pressure-regulated volume control ventilation in elderly patients with acute exacerbations of COPD and respiratory failure

    Chang SC

    2016-05-01

    Full Text Available Suchi Chang,1 Jindong Shi,2 Cuiping Fu,1 Xu Wu,1 Shanqun Li1 1Department of Respiratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, 2Department of Respiratory Medicine, The Fifth People’s Hospital of Shanghai, Fudan University, Shanghai, People’s Republic of China Background: COPD is the third leading cause of death worldwide. Acute exacerbations of COPD may cause respiratory failure, requiring intensive care unit admission and mechanical ventilation. Intensive care unit patients with acute exacerbations of COPD requiring mechanical ventilation have higher mortality rates than other hospitalized patients. Although mechanical ventilation is the most effective intervention for these conditions, invasive ventilation techniques have yielded variable effects. Objective: We evaluated pressure-regulated volume control (PRVC ventilation treatment efficacy and preventive effects on pulmonary barotrauma in elderly COPD patients with respiratory failure. Patients and methods: Thirty-nine intubated patients were divided into experimental and control groups and treated with the PRVC and synchronized intermittent mandatory ventilation – volume control methods, respectively. Vital signs, respiratory mechanics, and arterial blood gas analyses were monitored for 2–4 hours and 48 hours. Results: Both groups showed rapidly improved pH, partial pressure of oxygen (PaO2, and PaO2 per fraction of inspired O2 levels and lower partial pressure of carbon dioxide (PaCO2 levels. The pH and PaCO2 levels at 2–4 hours were lower and higher, respectively, in the test group than those in the control group (P<0.05 for both; after 48 hours, blood gas analyses showed no statistical difference in any marker (P>0.05. Vital signs during 2–4 hours and 48 hours of treatment showed no statistical difference in either group (P>0.05. The level of peak inspiratory pressure in the experimental group after mechanical ventilation for 2–4 hours and 48

  17. A case of congenital erythropoietic porphyria without hemolysis

    Arun K De

    2013-01-01

    Full Text Available Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis.

  18. Terpene-induced porphyria and the illness of Vincent van Gogh

    Lambrecht, R.; Cable, E.; Cable, J.; Clements, E.; Donohue, S.; Greene, Y.; Srivastava, K.; Arnold, W.; Bonkovsky, H. (Univ. of Massachusetts Medical Center, Worcester (United States) Univ. of Kansas Medical Center, Kansas City (United States))

    1992-01-01

    Vincent van Gogh suffered from recurrent bouts of an illness that may have been acute porphyria and abused camphor and alcohol, the latter particularly in the form of absinthe, a liqueur distilled from wormwood that was popular in 19th C France. To learn whether camphor or terpenes found in absinthe are porphyrogenic, the authors studied them in cultures of chick embryo liver cells. All were found to be porphyrogenic, especially in the presence of deferoxamine. The terpenes also induced the activity and protein amount of 5-aminolevulinate synthase and heme oxygenase, and induced activities of benzphetamine demethylase. The degree of porphyrin and enzyme induction produced by 1mM camphor was similar to that produced by 50uM glutethimide, a potent porphyrogen. Potency of pinene and thujone were lower. Camphor and glutethimide both produced accumulations of 8- and 7-COOH porphyrins, whereas pinene and thujone produced 4- and 2-COOH porphyrin accumulation. The authors conclude that camphor, pinen and thujone are porphyrogenic, cable of exacerbating acute porphyria, and may have done so in van Gogh.

  19. Predicting Changes in High-Intensity Intermittent Running Performance with Acute Responses to Short Jump Rope Workouts in Children

    Martin Buchheit

    2014-09-01

    Full Text Available The aims of the present study were to 1 examine whether individual HR and RPE responses to a jump rope workout could be used to predict changes in high-intensity intermittent running performance in young athletes, and 2 examine the effect of using different methods to determine a smallest worthwhile change (SWC on the interpretation of group-average and individual changes in the variables. Before and after an 8-week high-intensity training program, 13 children athletes (10.6 ± 0.9 yr performed a high-intensity running test (30-15 Intermittent Fitness Test, VIFT and three jump rope workouts, where HR and RPE were collected. The SWC was defined as either 1/5th of the between-subjects standard deviation or the variable typical error (CV. After training, the large ~9% improvement in VIFT was very likely, irrespective of the SWC. Standardized changes were greater for RPE (very likely-to-almost certain, ~30-60% changes, ~4-16 times >SWC than for HR (likely-to-very likely, ~2-6% changes, ~1-6 times >SWC responses. Using the CV as the SWC lead to the smallest and greatest changes for HR and RPE, respectively. The predictive value for individual performance changes tended to be better for HR (74-92% than RPE (69%, and greater when using the CV as the SWC. The predictive value for no-performance change was low for both measures (<26%. Substantial decreases in HR and RPE responses to short jump rope workouts can predict substantial improvements in high-intensity running performance at the individual level. Using the CV of test measures as the SWC might be the better option.

  20. A Case of Porphyria Cutanea Tarda in a Patient Undergoing Dialysis

    Ayşegül Güney; Ayşın Köktürk; Ayşe Polat

    2010-01-01

    Porphyrinogens are the building blocks of all the hemoproteins, such as hemoglobin and the cytochrome enzymes. In certain inherited and acquired disease states, called the porphyrias, these intermediate metabolites of hemoglobin synthesis are increased. Porphyria cutanea tarda is the most common type of porphyria. It is characterized by photosensitivity resulting in bullae, especially on sun-exposed parts. Liver diseases, kidney diseases, hepatitis C virus infection concomitant with porphyria...

  1. Acute and delayed effects of intermittant ozone on cardiovascular and thermoregulatory responses of young and aged rats

    Ozone (03) is associated with cardiovascular and respiratory diseases. The aged population is considered to be more sensitive to air pollutants but relatively few studies have demonstrated increased susceptibility in animal models of aging. To study the acute and delayed physiolo...

  2. Acute effects of resistance exercise and intermittent intense aerobic exercise on blood cell count and oxidative stress in trained middle-aged women

    The aim of this study was to compare the effect of an intermittent intense aerobic exercise session and a resistance exercise session on blood cell counts and oxidative stress parameters in middle-aged women. Thirty-four women were selected and divided into three groups: RE group (performing 60 min of resistance exercises, N = 12), spinning group (performing 60 min of spinning, N = 12), and control group (not exercising regularly, N = 10). In both exercise groups, lymphocytes and monocytes decreased after 1-h recuperation (post-exercise) compared to immediately after exercise (P < 0.05). Immediately after exercise, in both exercised groups, a significant increase in TBARS (from 16.5 ± 2 to 25 ± 2 for the spinning group and from 18.6 ± 1 to 28.2 ± 3 nmol MDA/mL serum for the RE group) and protein carbonyl (from 1.0 ± 0.3 to 1.6 ± 0.2 for the spinning group and from 0.9 ± 0.2 to 1.5 ± 0.2 nmol/mg protein for the RE group) was observed (P < 0.05). A decrease in antioxidant activities (non-protein sulfhydryl, superoxide dismutase, catalase) was also demonstrated with a negative correlation between damage markers and antioxidant body defenses (P < 0.05). These results indicate that an acute bout of intermittent or anaerobic exercise induces immune suppression and increases the production of reactive oxygen species, causing oxidative stress in middle-aged and trained women. Furthermore, we demonstrated that trained women show improved antioxidant capacity and lower oxidative damage than sedentary ones, demonstrating the benefits of chronic regular physical activity

  3. A Case of Porphyria Cutanea Tarda in a Patient Undergoing Dialysis

    Ayşegül Güney

    2010-09-01

    Full Text Available Porphyrinogens are the building blocks of all the hemoproteins, such as hemoglobin and the cytochrome enzymes. In certain inherited and acquired disease states, called the porphyrias, these intermediate metabolites of hemoglobin synthesis are increased. Porphyria cutanea tarda is the most common type of porphyria. It is characterized by photosensitivity resulting in bullae, especially on sun-exposed parts. Liver diseases, kidney diseases, hepatitis C virus infection concomitant with porphyria cutanea tarda have been reported. We reported porphyria in a patient undergoing dialysis.

  4. The acute effects of intermittent treadmill running on hunger and plasma acylated ghrelin concentration in individuals with obesity

    Gholipour M

    2011-05-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Body weight is regulated by both food intake and energy expenditure. Ghrelin, a hormone produced by the stomach and pancreas, enhances appetite. This study was undertaken to determine the effects of intermittent treadmill running on acylated ghrelin and appetite in individuals with obesity."n"nMethods : Nine inactive male students, with a mean age of 20.56±0.48 yrs, a body mass index of 32.68±0.84 kg/m2 and a maximum oxygen uptake of 34.21±1.48 ml/kg/min, participated in the study in two trials (control and exercise in a counterbalanced, randomized design. The protocol included intermittent running with a constant intensity at 65% of VO2 max on a treadmill. Blood samples were collected before, during, and 2h after cessation of the exercise."n"nResults : Acylated ghrelin concentrations and hunger ratings decreased significantly in the second phase and remained lower than baseline (P=0.006 and P=0.002, respectively at the end of the exercise. The total area under the curve values and hunger ratings (all P<0.0005 were significantly lower in the exercise trial compared with the control state. Similarly, growth hormone rose significantly at the second phase and remained higher than baseline (P=0.033 at the

  5. Genetic and biochemical studies in Argentinean patients with variegate porphyria

    Giudice Jimena

    2008-06-01

    Full Text Available Abstract Background A partial deficiency in Protoporphyrinogen oxidase (PPOX produces the mixed disorder Variegate Porphyria (VP, the second acute porphyria more frequent in Argentina. Identification of patients with an overt VP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. Methods We have studied at molecular level 18 new Argentinean patients biochemically diagnosed as VP. PPOX gene was amplified in one or in twelve PCR reactions. All coding exons, flanking intronic and promoter regions were manual or automatically sequenced. For RT-PCR studies RNA was retrotranscripted, amplified and sequenced. PPOX activity in those families carrying a new and uncharacterized mutation was performed. Results All affected individuals harboured mutations in heterozygous state. Nine novel mutations and 3 already reported mutations were identified. Six of the novel mutations were single nucleotide substitutions, 2 were small deletions and one a small insertion. Three single nucleotide substitutions and the insertion were at exon-intron boundaries. Two of the single nucleotide substitutions, c.471G>A and c.807G>A and the insertion (c.388+3insT were close to the splice donor sites in exons 5, 7 and intron 4 respectively. The other single nucleotide substitution was a transversion in the last base of intron 7, g.3912G>C (c.808-1G>C so altering the consensus acceptor splice site. However, only in the first case the abnormal band showing the skipping of exon 5 was detected. The other single nucleotide substitutions were transversions: c.101A>T, c.995G>C and c.670 T>G that result in p.E34V, p.G332A and W224G aminoacid substitutions in exons 3, 10 and 7 respectively. Activity measurements indicate that these mutations reduced about 50% PPOX activity and also that they co-segregate with this reduced activity value. Two

  6. Comparison of the effects of growth hormone on acylated ghrelin and following acute intermittent exercise in two levels of obesity

    Majid Gholipour

    2013-08-01

    Full Text Available Background: The prevalence of obesity has risen enormously over the past few decad-es. Both food intake (Appetite and energy expenditure can influence body weight. Acylated ghrelin enhances appetite, and its plasma level is suppressed by growth horm-one. The present study, examines the effects of an intermittent exercise with progress-ive intensities on acylated ghrelin, appetite, and growth hormone in inactive male students with two levels of obesity.Methods: Eleven inactive males were allocated into two groups on the basis of their body mass index (BMI. Six subjects in group one, BMI= 31.18±0.92 kg/m2, and five subjects in group two, BMI= 36.94±2.25 kg/m2, ran on the treadmill with progressive intensities of 50, 60, 70 and 80% of VO2max for 10, 10, 5, and 2 min respectively. Blood samples were collected before the exercise (as the resting values, after each workload (during the exercise, and at 30, 60, and 120 min (during recovery.Results: Plasma acylated ghrelin concentrations and hunger ratings in two groups were decreased and remained significantly lower than resting values (P=0.008 and P=0.002 respectively at the end of the trial and there was no significant differences between groups. Growth hormone levels in two groups were increased and remained significant-ly higher than resting values (groups one P=0.012, group two P=0.005 at the end of the trial and there was no significant differences between groups. In addition, there were no significant differences between area under the curves (AUC values over total periods for acylated ghrelin, hunger ratings, and growth hormone in two groups.Conclusion: These findings indicate that individuals with two levels of obesity have the same response to the different intensities of treadmill running and two hours thereafter during recovery period, which can be considered for designing a more effective weighting loss training program.

  7. [Porphyria cutanea tarda: the benefit of additional diagnostics].

    Vossen, Allard R J V; Boesten, Lianne S M; Siersema, Peter D; Nellen, Ruud G L

    2016-01-01

    The porphyrias are a clinically and genetically heterogeneous group of relatively rare metabolic diseases that result from disorders in the biosynthesis of haeme. Porphyria cutanea tarda (PCT) is the most common type, accounting for 80-90% of all porphyrias, and is essentially an acquired disease, although PCT can also occur on a familial basis. We describe a 71-year-old female and a 62-year-old male patient, both of whom had several risk factors for developing PCT, ranging from iron overload due to a mutation in the hereditary haemochromatosis protein (HFE) gene, alcohol use, smoking, and exogenous oestrogen, to persistent hepatitis C infection. The clinical relevance of the several diagnostic modalities is important in PCT. Diagnostic evaluation is important in order to confirm the diagnosis, but also to evaluate the treatment response in the context of long-term follow-up in the prevention of late complications of PCT, i.e. hepatocellular carcinoma. PMID:26840933

  8. Multiple hepatic foci in latent porphyria cutanea tarda

    A 41-year-old patient with latent porphyria cutanea tarda is described; 8 years after mastectomy for carcinoma, sonography and CT showed multiple hepatic foci, which were at first interpreted as liver metastases. A liver biopsy was carried out during laparoscopy and u/v fluorescence and subsequent laboratory tests confirmed the diagnosis of porphyria cutanea tarda. Treatment with Resochin produced almost complete resolution of the liver abnormalities within 9 months. Magnetic resonance tomography using proton-weighted SE sequences showed a few foci of high signal intensity. (orig.)

  9. Multiple hepatic foci in latent porphyria cutanea tarda

    Kerjes, W.; Harder, T.; Steudel, A.; Hartlapp, J.H.

    1988-02-01

    A 41-year-old patient with latent porphyria cutanea tarda is described; 8 years after mastectomy for carcinoma, sonography and CT showed multiple hepatic foci, which were at first interpreted as liver metastases. A liver biopsy was carried out during laparoscopy and u/v fluorescence and subsequent laboratory tests confirmed the diagnosis of porphyria cutanea tarda. Treatment with Resochin produced almost complete resolution of the liver abnormalities within 9 months. Magnetic resonance tomography using proton-weighted SE sequences showed a few foci of high signal intensity.

  10. Chronic Intermittent Ethanol Exposure Enhances the Excitability and Synaptic Plasticity of Lateral Orbitofrontal Cortex Neurons and Induces a Tolerance to the Acute Inhibitory Actions of Ethanol.

    Nimitvilai, Sudarat; Lopez, Marcelo F; Mulholland, Patrick J; Woodward, John J

    2016-03-01

    Alcoholism is associated with changes in brain reward and control systems, including the prefrontal cortex. In prefrontal areas, the orbitofrontal cortex (OFC) has been suggested to have an important role in the development of alcohol-abuse disorders and studies from this laboratory demonstrate that OFC-mediated behaviors are impaired in alcohol-dependent animals. However, it is not known whether chronic alcohol (ethanol) exposure alters the fundamental properties of OFC neurons. In this study, mice were exposed to repeated cycles of chronic intermittent ethanol (CIE) exposure to induce dependence and whole-cell patch-clamp electrophysiology was used to examine the effects of CIE treatment on lateral OFC (lOFC) neuron excitability, synaptic transmission, and plasticity. Repeated cycles of CIE exposure and withdrawal enhanced current-evoked action potential (AP) spiking and this was accompanied by a reduction in the after-hyperpolarization and a decrease in the functional activity of SK channels. CIE mice also showed an increase in the AMPA/NMDA ratio, and this was associated with an increase in GluA1/GluA2 AMPA receptor expression and a decrease in GluN2B NMDA receptor subunits. Following CIE treatment, lOFC neurons displayed a persistent long-term potentiation of glutamatergic synaptic transmission following a spike-timing-dependent protocol. Lastly, CIE treatment diminished the inhibitory effect of acute ethanol on AP spiking of lOFC neurons and reduced expression of the GlyT1 transporter. Taken together, these results suggest that chronic exposure to ethanol leads to enhanced intrinsic excitability and glutamatergic synaptic signaling of lOFC neurons. These alterations may contribute to the impairment of OFC-dependent behaviors in alcohol-dependent individuals. PMID:26286839

  11. Porphyria Cutanea Tarda with Constrictive Pericarditis: A Rare Association

    Jyotika Kalsy; Mughda Sharma; Nidhi Sharma; Kaur Jasleen

    2012-01-01

    Porphyria cutanea tarda(PCT) is characterised by photosensitivity and bulla formation on photoexposed parts which heals with scaring and pigmentation. PCT is frequently associated with diabetes mellitus, lupus erythematosus and hepetitis C virus infection. We are reporting and Indian patient of PCT associated with pericarditis which is very rare.

  12. Intermittent hyperthyreosis

    Intermittent hyperthyreosis occurs under various forms of stress, especially heat stress. The clinician may diagnose such cases as masked or apathetic hyperthyroidism or 'forme fruste' hyperthyreosis or thyroid autonomy. As most routine and standard tests may here yield inconsistent results, it is the patients' anamnesis which may provide the clue. Our Bioclimatology Unit has now seen over 100 cases in which thyroid hypersensitivity towards heat was the most prominent syndrome: 10-15% of weather-sensitive patients are affected. The patients complain before or during heat spells of such contradictory symptoms as insomnia, irritability, tension, tachycardia, palpitations, precordial pain, dyspnoe, flushes with sweating or chills, tremor, abdominal pain or diarrhea, polyuria or pollakisuria, weight loss in spite of ravenous appetite, fatigue, exhaustion, depression, adynamia, lack of concentration and confusion. Determination of urinary neurohormones allows a differential diagnosis, intermittent hyperthyreosis being characterized by three cardinal symptoms: tachycardia - every case with more than 80 pulse beats being suspect (not specific); urinary histamine - every case excreting more than 90 μg/day being suspect. Again the drawback of this test is its lack of specificity, as histamine may also be increased in cases of allergy and spondylitis; urinary thyroxine - every case excreting more than 20 μg/day T-4 being suspect. This is the only specific test. Therapy should make use of lithium carbonate and betablockers. Propyl thiouracil is rarely required. (orig.)

  13. Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation

    Schaffer, Moshe; Schaffer, Pamela Manuela; Panzer, M.; Wilkowski, R; Dühmke, Eckhart

    2001-01-01

    Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm. Skin reactions and neurovisceral dysfunctions are known side effects of ionizing irradiation. It can be postulated that during or after ionizing irradiation treatment of patients affected with tumor and porphyria, severe side effects might appear, in contrast to...

  14. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients*

    Vieira, Fatima Mendonça Jorge; NAKHLE Maria Cristina; Abrantes-Lemos, Clarice Pires; Cançado, Eduardo Luiz Rachid; dos Reis, Vitor Manoel Silva

    2013-01-01

    BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepat...

  15. 38 CFR 3.813 - Interim benefits for disability or death due to chloracne or porphyria cutanea tarda.

    2010-07-01

    ... disability or death due to chloracne or porphyria cutanea tarda. 3.813 Section 3.813 Pensions, Bonuses, and... porphyria cutanea tarda. (a) Disability benefits. Except as provided in paragraph (c) of this section, a... Vietnam era, and who suffers from chloracne or porphyria cutanea tarda which became manifest within...

  16. Congenital erythropoietic porphyria in an African hedgehog (Atelerix albiventris).

    Wolff, Carlos; Corradini, Paulina; Cortés, Galaxia

    2005-06-01

    A 6-mo-old, male African hedgehog (Atelerix albiventris) presented with a history of pink urine and demonstrating pink-colored teeth and mild hepatomegaly on examination. Urinalysis revealed no physical, chemical, or cellular abnormalities other than a pink color and fluorescence under ultraviolet light (UV). Also under UV, intense fluorescence of teeth, feet, and spines was noted. Porphyria was suspected. Spectrophotometric evaluation of urine showed extremely elevated levels of copro- and uroporphyrins. Analysis of the urine by thin-layer chromatography showed an abnormal pattern of excreted porphyrin intermediates. Urine high-performance thin-layer chromatography showed that excreted porphyrins were 90-95% of the type-I isomeric form, suggestive of congenital erythropoietic porphyria. PMID:17323578

  17. Intermittent hypoxia and neurorehabilitation.

    Gonzalez-Rothi, Elisa J; Lee, Kun-Ze; Dale, Erica A; Reier, Paul J; Mitchell, Gordon S; Fuller, David D

    2015-12-15

    In recent years, it has become clear that brief, repeated presentations of hypoxia [i.e., acute intermittent hypoxia (AIH)] can boost the efficacy of more traditional therapeutic strategies in certain cases of neurologic dysfunction. This hypothesis derives from a series of studies in animal models and human subjects performed over the past 35 yr. In 1980, Millhorn et al. (Millhorn DE, Eldridge FL, Waldrop TG. Respir Physiol 41: 87-103, 1980) showed that electrical stimulation of carotid chemoafferent neurons produced a persistent, serotonin-dependent increase in phrenic motor output that outlasts the stimulus for more than 90 min (i.e., a "respiratory memory"). AIH elicits similar phrenic "long-term facilitation" (LTF) by a mechanism that requires cervical spinal serotonin receptor activation and de novo protein synthesis. From 2003 to present, a series of studies demonstrated that AIH can induce neuroplasticity in the injured spinal cord, causing functional recovery of breathing capacity after cervical spinal injury. Subsequently, it was demonstrated that repeated AIH (rAIH) can induce recovery of limb function, and the functional benefits of rAIH are greatest when paired with task-specific training. Since uncontrolled and/or prolonged intermittent hypoxia can elicit pathophysiology, a challenge of intermittent hypoxia research is to ensure that therapeutic protocols are well below the threshold for pathogenesis. This is possible since many low dose rAIH protocols have induced functional benefits without evidence of pathology. We propose that carefully controlled rAIH is a safe and noninvasive modality that can be paired with other neurorehabilitative strategies including traditional activity-based physical therapy or cell-based therapies such as intraspinal transplantation of neural progenitors. PMID:25997947

  18. Radiological features in congenital erythropoietic porphyria (Gunther's disease)

    Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium. (orig.)

  19. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda

    Christiansen, L; Bygum, A; Jensen, A; Brandrup, F; Thomsen, K; Hørder, Mogens; Petersen, N E

    2000-01-01

    Decreased uroporphyrinogen decarboxylase (UROD) activity is a characteristic feature of the most common of the porphyrias, porphyria cutanea tarda (PCT). A subgroup of the clinically overt PCT cases is associated with mutations in the gene encoding UROD and inherited as an autosomal-dominant trait...

  20. Feline porphyria associated with anemia, severe hepatic disease, and renal calculi

    Schnier, Jonathan J.; Hanna, Paul

    2010-01-01

    A 13-year-old, neutered male domestic cat presented with signs of weight loss, anemia, and hepatomegaly. Pathognomonic signs of porphyria were identified. Charcoal-like renal calculi and severe liver changes were observed, neither of which has been previously reported in association with feline porphyria.

  1. Porphyria and radiotherapy: yet a constellation of risk?; Porphyrie und Radiotherapie: doch eine Risikokonstellation?

    Rhomberg, W. [Abt. fuer Radioonkologie, Landeskrankenhaus, Feldkirch (Austria); Offner, F.A. [Abt. fuer Pathologie, Landeskrankenhaus, Feldkirch (Austria)

    2005-06-01

    Background: little is known concerning the relation of porphyrias to radiation treatment for cancer. The recent literature does not report negative outcomes at least in single cases of breast cancer, bladder cancer or in a patient with lymphoma. Theoretically, there is a risk for radiation treatment in cases of porphyrias. Case report: two patients with porphyria are described who underwent radiotherapy for glioblastoma multiforme. Case histories, radiation treatment data and the proof of porphyria are given in detail. The patients received a concomitant radiochemotherapy with infusions of ACNU [1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-(2-chloroethyl)-3-nitrosourea] every 6 weeks. The total radiation doses at the ICRU point were 60 and 38 Gy, respectively, given in single daily fractions of 2 Gy. Results: both patients responded well as far as objective tumor regression is concerned but died early after 7 and 1.5 months following diagnosis. The first patient experienced a large brain necrosis and deterioration of her porphyria. The second patient died of cardiopulmonary insufficiency still during radiotherapy with persistent or even increased signs of porphyria. The tumor showed extensive necrosis already after 38 Gy. Conclusion: in view of annotations in the literature and this case report, caution is advised as for irradiation of brain or nervous tissues in case of porphyrias. Molecular biology data seems to support this warning to some extent. (orig.)

  2. Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease

    Feng; Yan; Yan; Lu; Jie; Yin; Feng; Jiang; Zhen-Ping; Huang

    2014-01-01

    · Porphyria cutanea tarda(PCT) with ocular complications are rarely reported. To the best of our knowledge, no reports exist on allogeneic corneoscleral limbus tissue transplantation for treatment of these.Amniotic membrane grafting had been performed in their patient suffering from porphyria eye disease, but necrosis developed in the grafts. Nevertheless, in our patient, allogeneic corneoscleral limbus transplantation prevented necrosis from development at corneoscleral limbus. So we considered that the allogeneic corneoscleral limbus transplantation might be an option to repair the necrosis in porphyria eye disease with avoiding sunlight and using artificial tear drops.

  3. Porfiria cutânea tardia Porphyria cutanea tarda

    Fátima Mendonça Jorge Vieira

    2006-12-01

    Full Text Available Trata-se de revisão sobre a porfiria cutânea tardia em que são abordados a fisiopatogenia, as características clínicas, as doenças associadas, os fatores desencadeantes, a bioquímica, a histopatologia, a microscopia eletrônica, a microscopia de imunofluorescência e o tratamento da doença.This is a review article of porphyria cutanea tarda addressing pathophysiology, clinical features, associated conditions, triggering factors, biochemistry, histopathology, electronic microscopy, immunofluorescence microscopy and treatment of the disease.

  4. Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature.

    Chowdhury, Ujjwal K; Patel, Kartik; Seth, Sandeep; Ray, Ruma; Jagia, Priya; Sahu, Manoj

    2015-10-01

    An 18-year-old boy with congenital erythropoietic porphyria and calcific constrictive pericarditis underwent total pericardiectomy. The cause of pericardial calcification could be deposition of porphyrins in the pericardium. Surgical importance of this rare condition is highlighted. PMID:26467880

  5. Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia.

    Murphy, A.; Gibson, G; Elder, G H; Otridge, B A; Murphy, G M

    1995-01-01

    Cutaneous signs of Günther's disease (congenital erythropoietic porphyria) developing 5 years after the onset of symptomatic thrombocytopenia are described in a 65-year-old man. Persistent thrombocytopenia unresponsive to corticosteroids and immunoglobulin necessitated a splenectomy.

  6. Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease

    2014-01-01

    Porphyria cutanea tarda (PCT) with ocular complications are rarely reported. To the best of our knowledge, no reports exist on allogeneic corneoscleral limbus tissue transplantation for treatment of these. Amniotic membrane grafting had been performed in their patient suffering from porphyria eye disease, but necrosis developed in the grafts. Nevertheless, in our patient, allogeneic corneoscleral limbus transplantation prevented necrosis from development at corneoscleral limbus. So we conside...

  7. Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases

    Deen, Kristyn; Wu, Jason

    2015-01-01

    Porphyria cutanea tarda (PCT) is the most common type of porphyria worldwide and is often initially diagnosed when cutaneous manifestations arise. We present two patients where misdiagnosis of PCT occurred due to the condition masquerading as epidermolysis bullosa acquisita histologically. In patients with undifferentiated bullous/erosive skin conditions occurring in photo-distributed regions, PCT should be considered in the differential diagnosis irrespective of histopathological findings on...

  8. INTERMITTENT DEGRADATION AND SCHIZOTYPY

    Roché, Matthew W.; Silverstein, Steven M.; Lenzenweger, Mark F.

    2015-01-01

    Intermittent degradation refers to transient detrimental disruptions in task performance. This phenomenon has been repeatedly observed in the performance data of patients with schizophrenia. Whether intermittent degradation is a feature of the liability for schizophrenia (i.e., schizotypy) is an open question. Further, the specificity of intermittent degradation to schizotypy has yet to be investigated. To address these questions, 92 undergraduate participants completed a battery of self-repo...

  9. Intermittent Explosive Disorder

    Lut Tamam; Meliha Zengin Eroglu; Ozlem Paltaci

    2011-01-01

    Intermittent explosive disorder is an impulse control disorder characterized by the occurrence of discrete episodes of failure to resist aggressive impulses that result in violent assault or destruction of property. Though the prevalence intermittent explosive disorder has been reported to be relatively rare in frontier studies on the field, it is now common opinion that intermittent explosive disorder is far more common than previously thought especially in clinical psychiatry settings. Etio...

  10. A molecular study of congenital erythropoietic porphyria in cattle

    Agerholm, J S; Thulstrup, P W; Bjerrum, M J; Bendixen, Christian; Jørgensen, C B; Fredholm, M

    2012-01-01

    is segregating in a manner consistent with autosomal recessive inheritance. Biochemical analyses demonstrated accumulation of uroporphyrin, thus confirming that it is indeed insufficient activity of UROS which is the cause of the disease. We have therefore sequenced all nine exons of UROS in affected......Previous studies have shown that congenital erythropoietic porphyria (CEP) in cattle is caused by an inherited deficiency of the enzyme uroporphyrinogen III synthase (UROS) encoded by the UROS gene. In this study, we have established the pedigree of an extended Holstein family in which the disease...... and non-affected individuals without detecting any potential causative mutations. However, a single nucleotide polymorphism (SNP) located within the spliceosome attachment region in intron 8 of UROS is shown to segregate with the disease allele. Our study supports the hypothesis that CEP in cattle is...

  11. Further discussion concerning porphyria cutanea tarda and TCDD exposure

    Jones, R.E.; Chelsky, M.

    Past reports have correlated a diagnosis of porphyria cutanea tarda (PCT) with exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Re-examination of the literature, however, has caused us to question the conclusion of a relationship between acquired PCT and TCDD. The major considerations at issue were: (1) whether the diagnostic label of PCT was applied excessively to cases with findings that are nonspecific; (2) whether the clinical conditions suggestive of PCT were likely results of exposure to another chemical, for example hexachlorobenzene (HCB); and (3) whether a causal link between PCT and TCDD is reasonably substantiated by the facts. Based on the re-evaluation of the literature, the known effects of HCB and TCDD, and the follow-up results from the chemical plant, the authors submit that HCB alone, or HCB in combination with other polychlorinated aromatic hydrocarbons, may have been responsible for the effects observed and the subsequent correlation to PCT.

  12. Advances in understanding the pathogenesis of congenital erythropoietic porphyria.

    Di Pierro, Elena; Brancaleoni, Valentina; Granata, Francesca

    2016-05-01

    Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of CEP include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of ALAS2, the first and rate-limiting of the haem synthesis enzymes in erythroid cells, has also been reported. CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out. PMID:26969896

  13. A comparison of synchronized intermittent mandatory ventilation and pressure-regulated volume control ventilation in elderly patients with acute exacerbations of COPD and respiratory failure

    Chang SC; Shi JD; Fu CP; Wu X; Li SQ

    2016-01-01

    Suchi Chang,1 Jindong Shi,2 Cuiping Fu,1 Xu Wu,1 Shanqun Li1 1Department of Respiratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, 2Department of Respiratory Medicine, The Fifth People’s Hospital of Shanghai, Fudan University, Shanghai, People’s Republic of China Background: COPD is the third leading cause of death worldwide. Acute exacerbations of COPD may cause respiratory failure, requiring intensive care unit admission and mechanical ventilation. Intensive car...

  14. A comparison of synchronized intermittent mandatory ventilation and pressure-regulated volume control ventilation in elderly patients with acute exacerbations of COPD and respiratory failure

    Chang, Su Chi

    2016-01-01

    Suchi Chang,1 Jindong Shi,2 Cuiping Fu,1 Xu Wu,1 Shanqun Li1 1Department of Respiratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, 2Department of Respiratory Medicine, The Fifth People’s Hospital of Shanghai, Fudan University, Shanghai, People’s Republic of China Background: COPD is the third leading cause of death worldwide. Acute exacerbations of COPD may cause respiratory failure, requiring intensive care unit admission and mechanical ventilation. Inten...

  15. ROTURA DEL SEPTO INTERVENTRICULAR DESPUÉS DE INFARTO AGUDO DE MIOCARDIO CON APERTURA Y CIERRE INTERMITENTES / Interventricular septal rupture after acute myocardial infarction with intermittent opening and closing

    Jorge L. Alonso Freire

    2013-01-01

    Full Text Available Resumen La rotura del septo interventricular es una grave complicación en pacientes que sufren infarto agudo de miocardio. Se presenta aproximadamente en el 1 % de los pacientes infartados, su mortalidad es elevada y el tratamiento de elección es la reparación quirúrgica. Se presenta un paciente anciano que ingresó en la Unidad de Cuidados Intensivos por infarto agudo de miocardio de cara anterior, que recibió tratamiento trombolítico con estreptokinasa recombinante cubana y 24 horas más tarde, presentó deterioro hemodinámico con cambios electrocardiográficos y aparición de soplo sistólico en la punta. Se realizó una ecocardiografía que mostró un defecto del septo interventricular con apertura y cierre intermitentes. Horas más tarde el paciente falleció por insuficiencia cardiocirculatoria, a pesar del tratamiento. Se presentan las imágenes ecocardiográficas y la pieza anatómica. Lo inusual del presente caso fue la apertura y el cierre intermitentes del defecto interventricular. No se encontró ningún informe similar a en las bases de datos bibliográficas consultadas. / Abstract Ventricular septum rupture is a serious complication in patients with acute myocardial infarction. It occurs in approximately 1% of heart attack patients; its mortality rate is high and surgical repair is the treatment of choice. The case of an elderly male patient who was admitted to the Intensive Care Unit for acute anterior myocardial infarction is reported. This patient received thrombolytic therapy with Cuban recombinant streptokinase and 24 hours later presented hemodynamic deterioration with electrocardiographic changes and appearance of systolic murmur at the apex. Echocardiography was performed which showed a ventricular septal defect with intermittent opening and closing. Despite treatment, the patient died of circulatory failure hours later. Echocardiographic images and the anatomical specimen are shown. What was unusual in this case was

  16. Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.

    Muñoz-Santos, Carlos; Guilabert, Antonio; Moreno, Nemesio; To-Figueras, Jordi; Badenas, Celia; Darwich, Esteve; Herrero, Carmen

    2010-03-01

    Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case. PMID:20517178

  17. Partial protoporphyrinogen oxidase (PPOX gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

    Barbaro Michela

    2013-01-01

    Full Text Available Abstract Variegate porphyria (VP is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed areas of the skin and/or neuropsychiatric acute attacks. The identification of the genetic defect in VP families is of crucial importance to detect the carrier status which allows counseling to prevent potentially life threatening neurovisceral attacks, usually triggered by factors such as certain drugs, alcohol or fasting. In a total of 31 Swedish VP families sequence analysis had identified a genetic defect in 26. In the remaining five families an extended genetic investigation was necessary. After the development of a synthetic probe set, MLPA analysis to screen for single exon deletions/duplications was performed. We describe here, for the first time, two partial deletions within the PPOX gene detected by MLPA analysis. One deletion affects exon 5 and 6 (c.339-197_616+320del1099 and has been identified in four families, most probably after a founder effect. The other extends from exon 5 to exon 9 (c.339-350_987+229del2609 and was found in one family. We show that both deletions are mediated by Alu repeats. Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP.

  18. Intermittent Explosive Disorder

    Lut Tamam

    2011-09-01

    Full Text Available Intermittent explosive disorder is an impulse control disorder characterized by the occurrence of discrete episodes of failure to resist aggressive impulses that result in violent assault or destruction of property. Though the prevalence intermittent explosive disorder has been reported to be relatively rare in frontier studies on the field, it is now common opinion that intermittent explosive disorder is far more common than previously thought especially in clinical psychiatry settings. Etiological studies displayed the role of both psychosocial factors like childhood traumas and biological factors like dysfunctional neurotransmitter systems and genetics. In differential diagnosis of the disorder, disorders involving agression as a symptom such as alcohol and drug intoxication, antisocial and borderline personality disorders, personality changes due to general medical conditions and behavioral disorder should be considered. A combination of pharmacological and psychotherapeutic approaches are suggested in the treatment of the disorder. This article briefly reviews the historical background, diagnostic criteria, epidemiology, etiology and treatment of intermittent explosive disorder.

  19. Forecasting intermittent demand

    Teunter, R.H.; Duncan, L

    2006-01-01

    Methods for forecasting intermittent demand are compared using a large data-set from the UK Royal Air Force (RAF). Several important results are found. First, we show that the traditional per period forecast error measures are not appropriate for intermittent demand, even though they are consistently used in the literature. Second, by comparing target service levels to achieved service levels when inventory decisions are based on demand forecasts, we show that Croston's method (and a variant)...

  20. Intermittency in particle physics

    This thesis presents an analysis of intermittency as it appears in high energy multiparticle production. Momentum space particle distributions are scale invariant and fluctuate from events to events. This phenomenon originates from Hydrodynamics. Some results about hydrodynamics intermittency are by the way deduced using random diffusion processes and the Landau-Ginzburg equation. A phenomenological approach utilizing random cascading models is used to describe the morphology and intermittent features of particle distributions. Along these lines, a thorough study of random cascades is performed. The origin of intermittent fluctuation is to be found within the Framework of Quantum Field Theory. Indeed intermittency is intimately linked to the perturbative cascade of Quantum Chromodynamics. The long distance behaviour of perturbative QCD is intermittent at the leading collinear logarithm approximation. Moreover fluctuations of matter density along the rapidity axis suggest that the gluon cascade undergoes a phase transition towards a valley landscape where gluons are prone to get clumped within small regions. This is compatible with the so-called preconfinement

  1. Vinyl chloride-induced hepatic coproporphyrinuria with transition to chronic hepatic porphyria

    Doss, M.; Lange, C.E.; Veltman, G.

    1984-02-15

    A chronic hepatic disorder of porphyrin metabolism was found in 36 workers with vinyl chloride (VC)-induced hepatic injury following long-time industrial exposure. Pathologic porphyrinuria, especially secondary coproporphyrinuria with transition to subclinical chronic hepatic porphyria, is a consistent pathobiochemical parameter for the recognition of VC hepatic lesions. The porphyrinuria is of diagnostic value for the incipient toxic phase. Erythrocyte uroporphyrinogen decarboxylase activity studied in six cases with initial chronic hepatic porphyria was normal, suggesting that VC affects only this enzyme in the liver.

  2. Porphyria cutanea tarda in a chronic hemodialysis patient

    Labidi Jannet

    2010-01-01

    Full Text Available End-stage renal failure and long-term hemodialysis (HD treatment promote the development of genetically conditioned porphyria cutanea tarda (PCT. Iron overload is often asso-ciated with this disease and is thought to play a role in its pathogenesis. We report a case of HD-related PCT, which improved with deferoxamine treatment. A 33-year-old woman, with end-stage renal failure on HD since 1998, presented with a history of blisters on the face and dorsum of the hands, of several months duration. Laboratory analysis showed: hemoglobin 10.4 g/dL; a moderate hepatic cytolysis; ferritin 1300 μg/L (Nl: 8-120 μg/L and negative serology for HIV, HBV and HCV. Porphyrin analyses showed a PCT pattern. Skin biopsy findings and direct immunofluo-rescence were consistent with PCT. The patient received deferoxamine (40 mg/kg intravenously every week for 6 weeks which led to dramatic improvement of the symptoms. Several treatments are proposed in the management of dialysis-related PCT. This case confirms that deferoxamine can induce rapid and prolonged remission.

  3. Are renewable energies intermittent?

    This article outlines that renewable energies, notably photovoltaic and wind energy, are not that intermittent. Besides the fact that their operation is progressive (they do not pass from nothing to one), the fact they are distributed among the territory means that, when considering them all, the production is smoothed at the territory scale. They are in fact more varying than intermittent and they are smoothed and predictable. On the other side, thermal plants are regularly stopped, for maintenance for example. It states that in absence of wind or sun, fossil energies can be replaced by hydraulic energy and nuclear energy

  4. Intermittency and random matrices

    Sokoloff, Dmitry; Illarionov, E. A.

    2015-08-01

    A spectacular phenomenon of intermittency, i.e. a progressive growth of higher statistical moments of a physical field excited by an instability in a random medium, attracted the attention of Zeldovich in the last years of his life. At that time, the mathematical aspects underlying the physical description of this phenomenon were still under development and relations between various findings in the field remained obscure. Contemporary results from the theory of the product of independent random matrices (the Furstenberg theory) allowed the elaboration of the phenomenon of intermittency in a systematic way. We consider applications of the Furstenberg theory to some problems in cosmology and dynamo theory.

  5. Porphyria cutanea tarda associated with autoimmune hypothyroidism, vitiligo and alopecia universalis.

    Sabán, J; Rodríguez-García, J L; Gil, J; País, J R; Medina, S

    1991-12-01

    The aetiology of porphyria cutanea tarda (PCT) has not been elucidated, but the possibility of an autoimmune mechanism has been proposed. We report a case of an unknown clinical combination of PCT with autoimmune hypothyroidism, alopecia universalis and vitiligo with thyroid and parietal cell circulating antibodies. This is highly suggestive of underlying autoimmune damage in this patient. PMID:1803247

  6. Difficult diagnosis in a dermatologist's practice (description of a clinical case of late cutaneous porphyria

    Utz S.R.

    2015-09-01

    Full Text Available The article presents a case report of clinical observations of late cutaneous porphyria in a 50-years old patient. The data of the etiology, pathogenesis and clinical picture are summarized. A differential diagnosis with vulgar disease, acquired epidermolysis bullosa and pseudoporphyria. The results of a successful comprehensive treatment of disease by drugs quinoline series, systemic glucocorticosteroids, phlebotomy.

  7. Difficult diagnosis in a dermatologist's practice (description of a clinical case of late cutaneous porphyria)

    Utz S.R.; Bakulev A.L.; Slesarenko N.A.; Eremina M.G.; Muratova D.S.

    2015-01-01

    The article presents a case report of clinical observations of late cutaneous porphyria in a 50-years old patient. The data of the etiology, pathogenesis and clinical picture are summarized. A differential diagnosis with vulgar disease, acquired epidermolysis bullosa and pseudoporphyria. The results of a successful comprehensive treatment of disease by drugs quinoline series, systemic glucocorticosteroids, phlebotomy.

  8. Zooplankton intermittency and turbulence

    Schmitt, François G.

    2010-05-01

    Planktonic organisms usually live in a turbulent world. Since marine turbulence is characterized by very high Reynolds numbers, it possesses very intermittent fluctuations which in turn affect marine life. We consider here such influence on zooplankton on 2 aspects. First we consider zooplankton motion in the lab. Many copepods display swimming abilities. More and more species have been recently recorded using normal or high speed cameras, and many trajectories have been extracted from these movies and are now available for analysis. These trajectories can be complex, stochastic, with random switching from low velocity to high velocity events and even jumps. These complex trajectories show that an adequate modeling is necessary to understand and characterize them. Here we review the results published in the literature on copepod trajectories. We discuss the random walk, Levy walk modeling and introduce also multifractal random walks. We discuss the way to discriminate between these different walks using experimental data. Stochastic simulations will be performed to illustrate the different families. Second, we consider zooplankton contact rates in the framework of intermittent turbulence. Intermittency may have influence on plankton contact rates. We consider the Particle Stokes number of copepods, in a intermediate dissipation range affected by intermittent fluctuations. We show that they may display preferential concentration effects, and we consider the influence on contact rates of this effect in the intermediate dissipation range.

  9. Effect of intermittent hypercapnia on respiratory control in rat pups.

    Steggerda, Justin A; Mayer, Catherine A; Martin, Richard J; Wilson, Christopher G

    2010-01-01

    Preterm infants are subject to fluctuations in blood gas status associated with immature respiratory control. Intermittent hypoxia during early postnatal life has been shown to increase chemoreceptor sensitivity and destabilize the breathing pattern; however, intermittent hypercapnia remains poorly studied. Therefore, to test the hypothesis that intermittent hypercapnia results in altered respiratory control, we examined the effects of daily exposure to intermittent hypercapnia on the ventilatory response to subsequent hypercapnic and hypoxic exposure in neonatal rat pups. Exposure cycles consisted of 5 min of intermittent hypercapnia (5% CO(2), 21% O(2), balance N(2)) followed by 10 min of normoxia. Rat pups were exposed to 18 exposure cycles each day for 1 week, from postnatal day 7 to 14. We analyzed diaphragm electromyograms (EMGs) from pups exposed to subsequent acute hypercapnic (5% CO(2)) and hypoxic (12% O(2)) challenges. In response to a subsequent hypercapnia challenge, there was no significant difference in the ventilatory response between control and intermittent hypercapnia-exposed groups. In contrast, intermittent hypercapnia-exposed rat pups showed an enhanced ventilatory response to hypoxic challenge with an increase in minute EMG to 118 +/- 14% of baseline versus 107 +/- 13% for control pups (p < 0.05). We speculate that prior hypercapnic exposure may increase peripheral chemoreceptor response to subsequent hypoxic exposures and result in perturbed neonatal respiratory control. PMID:19752577

  10. The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage

    Ríos de Molina M.C.

    2002-01-01

    Full Text Available We evaluated the porphyrinogenic ability of ethanol (20% in drinking water per se, its effect on the development of sporadic porphyria cutanea tarda induced by hexachlorobenzene in female Wistar rats (170-190 g, N = 8/group, and the relationship with hepatic damage. Twenty-five percent of the animals receiving ethanol increased up to 14-, 25-, and 4.5-fold the urinary excretion of delta-aminolevulinate, porphobilinogen, and porphyrins, respectively. Ethanol exacerbated the precursor excretions elicited by hexachlorobenzene. Hepatic porphyrin levels increased by hexachlorobenzene treatment, while this parameter only increased (up to 90-fold in some of the animals that received ethanol alone. Ethanol reduced the activities of uroporphyrinogen decarboxylase, delta-aminolevulinate dehydrase and ferrochelatase. In the ethanol group, many of the animals showed a 30% decrease in uroporphyrinogen activity; in the ethanol + hexachlorobenzene group, this decrease occurred before the one caused by hexachlorobenzene alone. Ethanol exacerbated the effects of hexachlorobenzene, among others, on the rate-limiting enzyme delta-aminolevulinate synthetase. The plasma activities of enzymes that are markers of hepatic damage were similar in all drug-treated groups. These results indicate that 1 ethanol exacerbates the biochemical manifestation of sporadic hexachlorobenzene-induced porphyria cutanea tarda; 2 ethanol per se affects several enzymatic and excretion parameters of the heme metabolic pathway; 3 since not all the animals were affected to the same extent, ethanol seems to be a porphyrinogenic agent only when there is a predisposition, and 4 hepatic damage showed no correlation with the development of porphyria cutanea tarda.

  11. Uroporphyrinogen decarboxylase: Complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria

    Moran-Jimenez, M.J.; Ged, C.; Verneuil, H. de [Universite de Bordeaux (France)] [and others

    1996-04-01

    A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is found in patients with sporadic porphyria cutanea tarda (s-PCT), familial porphyria cutanea tarda (f-PCT), and hepatoerythropoietic porphyria (HEP). Subnormal UROD activity is due to mutations of the UROD gene in both f-PCT and HEP, but no mutations have been found in s-PCT. Genetic analysis has determined that f-PCT is transmitted as an autosomal dominant trait. In contrast, HEP, a severe form of cutaneous porphyria, is transmitted as an autosomal recessive trait. HEP is characterized by a profound deficiency of UROD activity, and the disease is usually manifest in childhood. In this study, a strategy was designed to identify alleles responsible for the HEP phenotype in three unrelated families. Mutations of UROD were identified by direct sequencing of four amplified fragments that contained the entire coding sequence of the UROD gene. Two new missense mutations were observed at the homoallelic state: P62L (proline-to-leucine substitution at codon 62) in a Portuguese family and Y311C (tyrosine-to-cysteine substitution at codon 311) in an Italian family. A third mutation, G281E, was observed in a Spanish family. This mutation has been previously described in three families from Spain and one from Tunisia. In the Spanish family described in this report, a paternal uncle of the proband developed clinically overt PCT as an adult and proved to be heterozygous for the G281E mutation. Mutant cDNAs corresponding to the P62L and Y311C changes detected in these families were created by site-directed mutagenesis. Recombinant proteins proved to have subnormal enzyme activity, and the Y311C mutant was thermolabile. 24 refs., 7 figs., 4 tabs.

  12. Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of three cases

    Levesque, M.; Legmann, P.; Le Cloirec, A.; Deybach, J.C.; Nordmann, Y.

    1988-01-01

    Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.

  13. Ultraviolet light induced changes in the organization of mitotic chromosomes in porphyria cutanea tarda

    Chromosome decondensation or attenuation can be induced with ultraviolet light, particularly in the presence of inhibitors of semiconservative DNA synthesis, such as hydroxyurea. The rate of decondensation of metaphase chromosomes from lymphocyte cultures of healthy controls and patients with porphyria cutanea tarda has been compared after ultraviolet irradiation in the presence of hydroxyurea. Chromosomes of the patients attenuated more readily than the control ones at all UV doses. The possibilities causing such differences in the profile of chromosome decondensation are discussed

  14. Forecast combinations for intermittent demand

    Fotios PETROPOULOS; Kourentzes, Nikos

    2015-01-01

    Intermittent demand is characterised by infrequent demand arrivals, where many periods have zero demand, coupled with varied demand sizes. The dual source of variation renders forecasting for intermittent demand a very challenging task. Many researchers have focused on the development of specialised methods for intermittent demand. However, apart from a case study on hierarchical forecasting, the effects of combining, which is a standard practice for regular demand, have not been investigated...

  15. Fate in intermittent claudication

    Jelnes, Rolf; Gaardsting, O; Hougaard Jensen, K;

    1986-01-01

    The fate of 257 consecutive patients (100 women) aged 36-85 years (mean 65) first seen with intermittent claudication in 1977 was analysed after a mean of 6.5 (SD 0.5) years. When first seen none of the patients complained of rest pain or had ulcers or gangrenous lesions on the feet. At follow up...... 113 of the patients (44%) had died. Causes of death were no different from those in the general population. Mortality was twice that of the general population matched for age and sex. Mortality among the men was twice that among the women. In men under 60 mortality was four times that expected. The...

  16. Studies on the role of the Ah receptor in hexachloro-benzene-induced porphyria

    Many of the effects of hexachlorobenzene (HCB) resemble those of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), whose effects are initiated by its binding to the AH receptor, the regulatory gene product of the Ah locus. I investigated the ability of HCB to interact with the AH receptor and the involvement of this protein in HCB-induced porphyria. The induction of two cytochrome P450 isozymes regulated by the Ah locus was also examined in light of their possible role in the pathogenesis of HCB- and TCDD-induced porphyria. HCB competitively inhibited the in vitro specific binding of [3H]-TCDD to the rat hepatic Ah receptor (KI = 2.1 μM) without affecting the solubility of [3H]TCDD. Following the administration of HCB to rats, the number of [3H]TCDD specific binding sites was reduced by up to 40%. HCB induced cytochromes P450b, P450e, P450c, and P450d, confirming that it is a mixed-type P450 inducer. The presence of porphyria in mice was assessed by measuring urinary and hepatic porphyrins and hepatic uroporphyrinogen decarboxylase activity

  17. Studies on the role of the Ah receptor in hexachloro-benzene-induced porphyria

    Hahn, M.E.

    1987-01-01

    Many of the effects of hexachlorobenzene (HCB) resemble those of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), whose effects are initiated by its binding to the AH receptor, the regulatory gene product of the Ah locus. I investigated the ability of HCB to interact with the AH receptor and the involvement of this protein in HCB-induced porphyria. The induction of two cytochrome P450 isozymes regulated by the Ah locus was also examined in light of their possible role in the pathogenesis of HCB- and TCDD-induced porphyria. HCB competitively inhibited the in vitro specific binding of ({sup 3}H)-TCDD to the rat hepatic Ah receptor (K{sub I} = 2.1 {mu}M) without affecting the solubility of ({sup 3}H)TCDD. Following the administration of HCB to rats, the number of ({sup 3}H)TCDD specific binding sites was reduced by up to 40%. HCB induced cytochromes P450b, P450e, P450c, and P450d, confirming that it is a mixed-type P450 inducer. The presence of porphyria in mice was assessed by measuring urinary and hepatic porphyrins and hepatic uroporphyrinogen decarboxylase activity.

  18. Interventions for intermittent exotropia

    Hatt, Sarah R; Gnanaraj, Lawrence

    2014-01-01

    Background The clinical management of intermittent exotropia has been discussed extensively in the literature, yet there remains a lack of clarity regarding indications for intervention, the most effective form of treatment and whether or not there is an optimal time in the evolution of the disease at which any treatment should be carried out. Objectives The objective of this review was to analyse the effects of various surgical and non-surgical treatments in randomised trials of participants with intermittent exotropia, and to report intervention criteria and determine the significance of factors such as age with respect to outcome. Search methods We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library, Issue 4, 2012), MEDLINE (January 1966 to May 2012), EMBASE (January 1980 to May 2012), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to May 2012), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 4 May 2012. We are no longer searching the UK Clinical Trials Gateway (UKCTG) for this review. We manually searched the British Orthoptic Journal up to 2002, and the proceedings of the European Strabismological Association (ESA), International Strabismological Association (ISA) and American Academy of Paediatric Ophthalmology and Strabismus meeting (AAPOS) up to 2001. We contacted researchers who are active in the field for information about further published or unpublished studies. Selection criteria We included randomised controlled trials of any surgical or non-surgical treatment for intermittent exotropia. Data collection and

  19. Instantons and intermittency

    Falkovich, G; Lebedev, V; Migdal, A

    1995-01-01

    We propose the new method for finding the non-Gaussian tails of probability distribution function (PDF) for solutions of a stochastic differential equation, such as convection equation for a passive scalar, random driven Navier-Stokes equation etc. Existence of such tails is generally regarded as a manifestation of intermittency phenomenon. Our formalism is based on the WKB approximation in the functional integral for the conditional probability of large fluctuation. We argue that the main contribution to the functional integral is given by a coupled field-force configuration -- {\\em instanton}. As an example, we examine the correlation functions of the passive scalar u advected by a large-scale velocity field \\delta-correlated in time. We find the instanton determining the tails of the generating functional and show that it is different from the instanton that determines the probability distribution function of high powers of u. We discuss the simplest instantons for the Navier-Stokes equation.

  20. Effects of Cold Modality Application With Static and Intermittent Pneumatic Compression on Tissue Temperature and Systemic Cardiovascular Responses

    Holwerda, Seth W.; Trowbridge, Cynthia A.; Womochel, Kathryn S.; Keller, David M.

    2013-01-01

    Background: In the therapeutic setting, cryotherapy with varying levels of intermittent cyclical compression often replaces an ice bag and elastic wrap. However, little is known about the cardiovascular strain and tissue temperature decreases associated with cooling and intermittent compression. Hypothesis: The authors hypothesized that higher levels of intermittent compression will result in greater reductions of tissue temperature and that all cold modalities will cause acute increases in c...

  1. Bandagem reversível do tronco pulmonar IV: análise da hipertrofia aguda do ventrículo direito em modelo experimental de sobrecarga intermitente IV Pulmonary trunk reversible banding: analysis of right ventricle acute hypertrophy in an intermittent loading experimental model

    Acrisio Sales Valente

    2008-03-01

    Full Text Available OBJETIVO: A bandagem ajustável do tronco pulmonar (TP pode proporcionar treinamento ventricular mais fisiológico para cirurgia de Jatene em dois estágios. Este estudo experimental analisa a hipertrofia aguda (96 horas do ventrículo direito (VD submetido à sobrecarga sistólica intermitente. MÉTODOS: Cinco grupos de sete cabritos jovens foram dispostos conforme o tempo de sobrecarga sistólica do VD (0, 24, 48, 72 e 96 horas. O grupo zero hora funcionou como grupo controle. Avaliações ecocardiográficas e hemodinâmicas foram feitas diariamente. Os animais foram sacrificados para avaliação do conteúdo de água e pesagem das massas cardíacas. RESULTADOS: Houve aumento da espessura do VD a partir de 48 horas de treinamento (pOBJECTIVES: Adjustable pulmonary trunk (PT banding device may induce a more physiologic ventricle retraining for the two-stage Jatene operation. This experimental study evaluates the acute hypertrophy (96 hours of the right ventricle (RV submitted to an intermittent pressure overload. METHODS: Five groups of seven young goats were distributed according to RV intermittent systolic overload duration (0, 24, 48, 72 and 96 hours. The zero-hour group served as a control group. Echocardiographic and hemodynamic evaluations were performed daily. After completing the training program for each group, the animals were sacrificed for water content and cardiac masses evaluation. RESULTS: There was a significant increase in RV free wall thickness starting with the 48-hour group (p<0.05. However, a decreased RV ejection fraction, associated with an important RV dilation and a significant increase in the RV volume to mass ratio was observed at 24-hour training period, when compared to 96-hour period (p=0.003, with subsequent recovery throughout the protocol. A 104.7% increase in RV mass was observed in the 96-hour group, as compared to the control group, with no differences in water content between these two groups. The daily mean

  2. Intermedia and Intermittency

    Veres Bálint

    2014-12-01

    Full Text Available It is commonly known that medial reflections have been initiated by attempts to secure the borders of discrete medial forms and to define the modus operandi of each essentialized medial area. Later on, the focus of study has shifted to plurimedial formations and the interactions between predefined medial genres. In the last few decades, taxonomic approaches to various multi-, inter-, and transmedial phenomena dominated the discussions, which offered invaluable support in mapping the terrain, but at the same time hindered the analysis of the ephemeral, time-dependent aspects of plurimedial operations. While we explore the properties of each medial configuration, we lose sight of the actual historical drivers that produce ever-new configurations. My thesis is that any discourse on intermediality should be paralleled by a discourse on cultural intermittency, and consequently, media studies should involve an approach that focuses on the “ecosystem” of the constantly renewing media configurations from the point of view of their vitalizing potential and capability to trigger heightened experiences. This approach draws much inspiration from K. Ludwig Pfeiffer’s media anthropology that gives orientation in my paper.

  3. Intermittency Growth in Fluid Turbulence

    ZHU Jian-Zhou

    2006-01-01

    @@ Measurement and phenomenological analyses of intermittency growth in an experimental turbulent pipe flow and numerical turbulence are performed, for which working definitions such as degree, increment, and growth rate of intermittency are introduced with the help of quasiscaling theory. The logarithmic-normal inertial scaling model is extended to quasiscaling as the second-order truncation of the Taylor expansion and is used for studying the intermittency growth problem. The extended self-similarity properties are shown to be not consistent with the monotonicity of the third order local quasiscaling exponent and the nonmonotonic behaviour of the intermittency growth rate as a result of bottleneck. Digestions of the results with scale-dependent multifractals are provided.

  4. Intermittency in spiral Poiseuille flow

    The results of an experimental study on intermittent spiral vortices observed in a counter-rotating Taylor-Couette system with an additional axial through flow, i.e. Spiral-Poiseuille flow, are presented. Convectively unstable upstream propagating spiral vortices appear in the laminar basic flow from an oscillatory instability and in general become absolutely unstable at higher inner cylinder Reynolds number. It is found that at Reynolds numbers above the absolute stability border the spiral vortices become unstable and a complex flow state showing intermittent bursts appears. The intermittent flow state is characterised by an irregular alternation between clearly distinguishable 'laminar' phases corresponding to up-and downstream propagating spiral vortices as well as propagating Taylor vortices. For a sufficiently high rate of axial through flow it is found that intermittency can occur directly from the convectively unstable regime of the upstream propagating spiral vortices

  5. Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C

    Azim, James; McCurdy, Heather; Moseley, Richard H.

    2008-01-01

    There is a strong association between porphyria cutanea tarda (PCT) and chronic viral hepatitis C. Therapy for chronic viral hepatitis C may improve PCT. However, there are only a few reports of the de novo development of PCT during therapy for chronic viral hepatitis C. We describe the development of PCT in a 56-year-old patient with chronic viral hepatitis C after 12 wk of peginterferon/ribavirin therapy. In addition, the patient was homozygous for the H63D hereditary hemochromatosis gene (...

  6. Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India

    Ramesh M. Bhat

    2014-01-01

    Full Text Available A 30-year-old unmarried, heterosexual male presented with an 8-month history of tense blistering skin lesions over the hands. Physical examination revealed facial hypertrichosis and multiple erosions with crusts and scars over the dorsum of both hands. Woods lamp examination of the urine, histopathology and urinary porphyrin levels were suggestive of porphyria cutanea tarda (PCT. The patient responded well to hydroxychloroquine and antiretroviral drugs. This case report calls for a detailed evaluation and HIV testing in every patient with PCT.

  7. Spinal Plasticity following Intermittent Hypoxia: Implications for Spinal Injury

    Dale-Nagle, Erica A.; Hoffman, Michael S.; MacFarlane, Peter M.; Satriotomo, Irawan; Lovett-Barr, Mary Rachael; Vinit, Stéphane; Mitchell, Gordon S.

    2010-01-01

    Plasticity is a fundamental property of the neural system controlling breathing. One frequently studied model of respiratory plasticity is long-term facilitation of phrenic motor output (pLTF) following acute intermittent hypoxia (AIH). pLTF arises from spinal plasticity, increasing respiratory motor output through a mechanism that requires new synthesis of brain derived neurotrophic factor (BDNF), activation of its high affinity receptor, tropomyosin-related kinase B (TrkB) and extracellular...

  8. High-Intensity Intermittent Exercise: Effect on Young People's Cardiometabolic Health and Cognition.

    Cooper, Simon B; Dring, Karah J; Nevill, Mary E

    2016-01-01

    With only a quarter of young people currently meeting physical activity guidelines, two key areas of concern are the effects of exercise on cardiometabolic health and cognition. Despite the fact that physical activity in young people is typically high intensity and intermittent in nature, much of the literature examines traditional endurance-type exercise. This review provides an update on the effects of high-intensity intermittent exercise on young people's cardiometabolic health and cognition. High-intensity intermittent exercise has acute beneficial effects on endothelial function and postprandial lipemia and chronic positive effects on weight management. In addition, there is emerging evidence regarding chronic benefits on the blood lipid profile, blood pressure, and proinflammatory and anti-inflammatory cytokines. Furthermore, emerging evidence suggests beneficial acute and chronic effects of high-intensity intermittent exercise on cognition. However, further research is required in both cardiometabolic health and cognition, particularly regarding the impact of school-based interventions in adolescents. PMID:27399821

  9. Intermittency in 197Au fragmentation

    The concept of factorial moments was applied to an analysis of the dynamical fluctuations in the charge distributions of the fragments emitted from gold nuclei with energies 10.6 and < 1.0 GeV/n interacting with emulsion nuclei. Clear evidence for intermittent fluctuations has been found in an analysis using all the particles released from the gold projectile, with a stronger effect observed below 1 GeV/n than at 10.6 GeV/n. For the full data sets, however, the intermittency effect was found to be very sensitive to the singly charged particles, and neglecting these particles strongly reduces the intermittency signal. When the analysis is restricted to the multiply charged fragments, an intermittency effect is revealed only for multifragmentation events, although one that is enhanced as compared to the analysis of all, singly and multiply charged, particles. The properties of the anomalous fractal dimensions suggest a sequential decay mechanism, rather than the existence of possible critical behaviour in the process of nuclear fragmentation. The likely influence of the charge conservation effects and the finite size of decaying systems on the observed intermittency signals was pointed out. (author). 37 refs, 9 figs, 5 tabs

  10. Elastic wave turbulence and intermittency

    Chibbaro, Sergio; Josserand, Christophe

    2016-07-01

    We investigate the onset of intermittency for vibrating elastic plate turbulence in the framework of the weak wave turbulence theory using a numerical approach. The spectrum of the displacement field and the structure functions of the fluctuations are computed for different forcing amplitudes. At low forcing, the spectrum predicted by the theory is observed, while the fluctuations are consistent with Gaussian statistics. When the forcing is increased, the spectrum varies at large scales, corresponding to the oscillations of nonlinear structures made of ridges delimited by d cones. In this regime, the fluctuations exhibit small-scale intermittency that can be fitted via a multifractal model. The analysis of the nonlinear frequency shows that the intermittency is linked to the breakdown of the weak turbulence at large scales only.

  11. Bursts in intermittent aeolian saltation

    Carneiro, M V; Herrmann, H J

    2014-01-01

    Close to the onset of Aeolian particle transport through saltation we find in wind tunnel experiments a regime of intermittent flux characterized by bursts of activity. Scaling laws are observed in the time delay between each burst and in the measurements of the wind fluctuations at the critical Shields number $\\theta_c$. The time delay between each burst decreases on average with the increase of the Shields number until saltation becomes non-intermittent and the sand flux becomes continuous. A numerical model for saltation including the wind-entrainment from the turbulent fluctuations can reproduce these observations and gives insight about their origin. We present here also for the first time measurements showing that with feeding it becomes possible to sustain intermittent flux even below the threshold $\\theta_c$ for natural saltation initiation.

  12. Anesthesia for hemicolectomy in a known porphyric with cecal malignancy

    B K Naithani

    2015-01-01

    Full Text Available Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and preparedness for reintubation and ventilatory support. The classical signs of a porphyric crisis such as pain abdomen, vomiting and neuropsychiatric symptoms are masked under general anesthesia and can be confused with postoperative pain and vomiting and postoperative cognitive dysfunction, especially for intra-abdominal surgeries. Eternal vigilance for onset of an acute crisis is imperative. After a crisis of acute intermittent porphyria, residual paresis may persist for years in the absence of further attacks.

  13. Intermittent control of coexisting attractors.

    Liu, Yang; Wiercigroch, Marian; Ing, James; Pavlovskaia, Ekaterina

    2013-06-28

    This paper proposes a new control method applicable for a class of non-autonomous dynamical systems that naturally exhibit coexisting attractors. The central idea is based on knowledge of a system's basins of attraction, with control actions being applied intermittently in the time domain when the actual trajectory satisfies a proximity constraint with regards to the desired trajectory. This intermittent control uses an impulsive force to perturb one of the system attractors in order to switch the system response onto another attractor. This is carried out by bringing the perturbed state into the desired basin of attraction. The method has been applied to control both smooth and non-smooth systems, with the Duffing and impact oscillators used as examples. The strength of the intermittent control force is also considered, and a constrained intermittent control law is introduced to investigate the effect of limited control force on the efficiency of the controller. It is shown that increasing the duration of the control action and/or the number of control actuations allows one to successfully switch between the stable attractors using a lower control force. Numerical and experimental results are presented to demonstrate the effectiveness of the proposed method. PMID:23690639

  14. Intermittency patterns in hadron multiproduction

    Short-range fluctuations in rapidity are observed in high energy multiproduction of hadrons. Using a factorial moment method, we show how to isolate non-statistical fluctuations and discuss some model predictions. Models including a space-time cascade of cluster decays are expected to lead to fluctuation patterns typical of intermittency whereas the dual parton model gives a very different steady behaviour

  15. Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C

    James Azim; Heather McCurdy; Richard H Moseley

    2008-01-01

    There is a strong association between porphyria cutanea tarda (PCT) and chronic viral hepatitis C. Therapy for chronic viral hepatitis C may improve PCT. However, there are only a few reports of the de novo development of PCT during therapy for chronic viral hepatitis C. We describe the development of PCT in a 56-year-old patient with chronic viral hepatitis C after 12 wk of peginterferon/ribavirin therapy. In addition, the patient was homozygous for the H63D hereditary hemochromatosis gene (HFE) mutation. The association of PCT with chronic viral hepatitis C and the possible role of hepatic iron overload and ribavirin-induced hemolytic anemia in the development of PCT during therapy for chronic viral hepatitis C are discussed.

  16. A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations

    Debjani Mishra

    2016-01-01

    Full Text Available A 27-year-old male patient was presented with foreign body sensation in both the eyes for 2 years duration and blisters followed by scarring and pigmentation in the photo-exposed areas of the body over the previous 12 years. His urine was reddish colored for the previous year. On examination, there was scarring, hyper-pigmentation of photo-exposed parts of the body along with resorption of the distal phalanges of fingers in both hands except the smallest digit which had onycholysis. Ocular examination indicated scleral necrosis in the interpalpebral areas in both eyes and bilateral dry eye. Hematological examination indicated a picture suggestive of hemolytic anemia. Abdominal ultrasonography indicated an enlarged spleen. These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.

  17. A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.

    Debjani, Mishra; Somnath, Mukhopadhyay

    2016-01-01

    A 27-year-old male patient was presented with foreign body sensation in both the eyes for 2 years duration and blisters followed by scarring and pigmentation in the photo-exposed areas of the body over the previous 12 years. His urine was reddish colored for the previous year. On examination, there was scarring, hyper-pigmentation of photo-exposed parts of the body along with resorption of the distal phalanges of fingers in both hands except the smallest digit which had onycholysis. Ocular examination indicated scleral necrosis in the interpalpebral areas in both eyes and bilateral dry eye. Hematological examination indicated a picture suggestive of hemolytic anemia. Abdominal ultrasonography indicated an enlarged spleen. These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations. PMID:26957860

  18. Methodological foundations for physical rehabilitation of patients on intermittent asthma.

    Grigus I.M.

    2011-05-01

    Full Text Available The aim was to improve the physical rehabilitation of patients with intermittent bronchial asthma exacerbation by applying the pathogenetic modes of physical activity and a range of physical therapeutic factors. A total of 70 patients with intermittent asthma in the acute stage. In the hospital carried out a specific program of physical rehabilitation, including the modified methods of therapeutic physical culture and physiotherapy facilities. The use of physical rehabilitation resulted in a reduction of assault period of the disease, significantly improved the physical performance of patients. In all cases of physical rehabilitation program achieved full control of the disease, significantly improves the quality of life of patients, did not occur in the treatment of patients with only medicines.

  19. Accumulation of uroporphyrin does not provoke further inhibition of liver uroporphyrinogen decarboxylase activity in hexachlorobenzene-induced porphyria.

    Adjarov, D G; Elder, G H

    1986-01-01

    The inhibition of uroporphyrinogen decarboxylase (Uro-D) is the basic pathogenetic mechanism in porphyria caused by hexachlorobenzene (HCB). This study aimed to establish whether hepatic accumulation of uroporphyrin in this porphyria could provoke a further decrease of Uro-D activity. Male C57Bl/6 mice were treated for 8 weeks with a diet containing 0.02% HCB. In some of them the deposition of liver porphyrins was additionally increased by intraperitoneal application of delta-aminolaevulinic acid (ALA). Uro-D activity was determined by measuring unconverted substrate uroporphyrinogen after its oxidation to uroporphyrin by reversed-phase high performance liquid chromatography. The value of endogenously formed uroporphyrin was also obtained from the sample by subtraction, using a blank assay. HCB treatment resulted in reduced activity of hepatic Uro-D, but this activity was not significantly less in animals loaded with ALA than in non-loaded mice. Uroporphyrin deposition tended to decrease 6 weeks after withdrawal of HCB, but the activity of Uro-D was still markedly inhibited. There was no evidence that the accumulation of uroporphyrin promoted a supplementary decrease of Uro-D activity in HCB porphyria. PMID:3596742

  20. Acute lymphocytic Leukemia masquerading as acute osteomyelitis

    Two children each developed a focal destructive bone lesion accompanied by intermittent fever, swelling, tenderness and elevated ESR. Blood counts were normal; bone marrow aspiration showed acute leukemia. The bone lesions healed in both patients after anti-leukemic therapy. We suggest that the similar roentgenographic appearance of osteomyelitis, bone infarction and focal destructive lesions in leukemia probably reflects a common, basically ischemic process of bone. (orig.)

  1. Intermittent exotropia: Surgical treatment strategies

    Jai Aditya Kelkar

    2015-01-01

    Full Text Available Surgical management of intermittent exotropias (IXTs is ambiguous, with techniques of management varying widely between institutions. This review aims to examine available literature on the surgical management of IXT. A literature search was performed using PubMed, Web of Knowledge, LILACS, and the University of Liverpool Orthoptic Journals and Conference Transactions Database. All English-language papers published between 1958 and the present day were considered.

  2. Power-constrained intermittent control

    Gawthrop, Peter J.; Wagg, David J; Neild, Simon A; Wang, Liuping

    2013-01-01

    In this article, input power, as opposed to the usual input amplitude, constraints are introduced in the context of intermittent control. They are shown to result in a combination of quadratic optimisation and quadratic constraints. The main motivation for considering input power constraints is its similarity with semi-active control. Such methods are commonly used to provide damping in mechanical systems and structures. It is shown that semi-active control can be re-expressed and generalised...

  3. Lattice splitting under intermittent flows

    Schläpfer, Markus; Trantopoulos, Konstantinos

    2010-01-01

    We study the splitting of regular square lattices subject to stochastic intermittent flows. Various flow patterns are produced by different groupings of the nodes, based on their random alternation between two possible states. The resulting flows on the lattices decrease with the number of groups according to a power law. By Monte Carlo simulations we reveal how the time span until the occurrence of a splitting depends on the flow patterns. Increasing the flow fluctuation frequency shortens t...

  4. Intermittent torsion of accessory hepatic lobe: An unusual cause of recurrent right upper quadrant pain

    An accessory lobe of the liver is a rare congenital anomaly that can undergo torsion and present as an acute surgical emergency. It is rarely diagnosed preoperatively. We report the preoperative utility of CT scan and MRI in the diagnosis and surgical planning of a case of intermittent accessory hepatic lobe torsion

  5. Intermittent torsion of accessory hepatic lobe: An unusual cause of recurrent right upper quadrant pain

    Jambhekar Kedar

    2010-01-01

    Full Text Available An accessory lobe of the liver is a rare congenital anomaly that can undergo torsion and present as an acute surgical emergency. It is rarely diagnosed preoperatively. We report the preoperative utility of CT scan and MRI in the diagnosis and surgical planning of a case of intermittent accessory hepatic lobe torsion.

  6. Long-term tolerability of telcagepant for acute treatment of migraine in a randomized trial

    Connor, Kathryn M; Aurora, Sheena K; Loeys, Tom; Ashina, Messoud; Jones, Christopher; Giezek, Hilde; Massaad, Rachid; Williams-Diaz, Angela; Lines, Christopher; Ho, Tony W

    2011-01-01

    To evaluate the long-term tolerability of telcagepant for acute treatment of intermittent migraine attacks. Background.- Telcagepant is a calcitonin gene-related peptide (CGRP) receptor antagonist being investigated for the acute treatment of migraine....

  7. Hexachlorobenzene impairs glucose metabolism in a rat model of porphyria cutanea tarda: a mechanistic approach

    Mazzetti, Marta Blanca; Taira, Maria Cristina; Lelli, Sandra Marcela; Viale, Leonor Carmen San Martin de [Departamento de Quimica Biologica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, C1428BGA, Ciudad Autonoma Buenos Aires (Argentina); Dascal, Eduardo; Basabe, Juan Carlos [Centro de Investigaciones Endocrinologicas (CEDIE). Hospital de Ninos, Dr. Ricardo Gutierrez, C1425EDF, Ciudad Autonoma Buenos Aires (Argentina)

    2004-01-01

    Hexachlobenzene (HCB), one of the most persistent environmental pollutants, induces porphyria cutanea tarda (PCT). The aim of this work was to analyze the effect of HCB on some aspects of glucose metabolism, particularly those related to its neosynthesis in vivo. For this purpose, a time-course study on gluconeogenic enzymes, pyruvate carboxylase (PC), phosphoenolpyruvate carboxykinase (PEPCK), glucose-6-phosphatase (G-6-Pase) and on pyruvate kinase (PK), a glycolytic enzyme, was carried out. Plasma glucose and insulin levels, hepatic glycogen, tryptophan contents, and the pancreatic insulin secretion pattern stimulated by glucose were investigated. Oxidative stress and heme pathway parameters were also evaluated. HCB treatment decreased PC, PEPCK, and G-6-Pase activities. The effect was observed at an early time point and grew as the treatment progressed. Loss of 60, 56, and 37%, respectively, was noted at the end of the treatment when a considerable amount of porphyrins had accumulated in the liver as a result of drastic blockage of uroporphyrinogen decarboxylase (URO-D) (95% inhibition). The plasma glucose level was reduced (one-third loss), while storage of hepatic glucose was stimulated in a time-dependent way by HCB treatment. A decay in the normal plasma insulin level was observed as fungicide intoxication progressed (twice to four times lower). However, normal insulin secretion of perifused pancreatic Langerhans islets stimulated by glucose during the 3rd and 6th weeks of treatment did not prove to be significantly affected. HCB promoted a time-dependent increase in urinary chemiluminiscence (fourfold) and hepatic malondialdehide (MDA) content (fivefold), while the liver tryptophan level was only raised at the longest intoxication times. These results would suggest that HCB treatment does not cause a primary alteration in the mechanism of pancreatic insulin secretion and that the changes induced by the fungicide on insulin levels would be an adaptative

  8. Bifurcations and intermittent magnetic activity

    The sequence of equilibria of two-dimensional reduced magnetohydrodynamics has been studied as a function of the tearing mode stability parameter Δ'. After a symmetry-breaking bifurcation occurring at Δ' ∼ 0, which originates a state with a small magnetic island, the system undergoes a second bifurcation, of tangent type, at Δ' ∼ 1. Above this value, no stationary solutions with small islands exist. The system rapidly develops an island of macroscopic size. This general property is proposed as a basic ingredient of the intermittent events observed in magnetically confined plasmas. (author)

  9. Bifurcations and intermittent magnetic activity

    Tebaldi, C.; Ottaviani, M.; Porcelli, F. [Commission of the European Communities, Abingdon (United Kingdom). JET Joint Undertaking

    1996-04-01

    The sequence of equilibria of two-dimensional reduced magnetohydrodynamics has been studied as a function of the tearing mode stability parameter {Delta}`. After a symmetry-breaking bifurcation occurring at {Delta}` {approx} 0, which originates a state with a small magnetic island, the system undergoes a second bifurcation, of tangent type, at {Delta}` {approx} 1. Above this value, no stationary solutions with small islands exist. The system rapidly develops an island of macroscopic size. This general property is proposed as a basic ingredient of the intermittent events observed in magnetically confined plasmas. (author).

  10. Improved Intermittency Analysis of Individual Events

    Janik, R. A.; Ziaja, B.

    1998-01-01

    Recent progress on the event-by-event analysis of intermittent data by R. A. Janik and myself is reported. The intermittency analysis of single event data (particle moments) in multiparticle production is improved, taking into account corrections due to the reconstruction of history of a particle cascade. This approach is tested within the framework of the $\\alpha$-model.}