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Article ; Online: Cholesterol microcrystals in rheumatoid arthritis synovial liquid.

Blouin, Jean-Marc / Poursac, Nicolas / Gad, Sophie / Richard, Emmanuel

2024 Volume 82, Issue 1, Page(s) 112–113

Title translation	Microcristaux de cholestérol dans le liquide synovial et polyarthrite rhumatoïde.
MeSH term(s)	Humans ; Cholesterol
Chemical Substances	Cholesterol (97C5T2UQ7J)
Language	French
Publishing date	2024-04-19
Publishing country	France
Document type	Journal Article
ZDB-ID	418098-7
ISSN	1950-6112 ; 0003-3898
ISSN (online)	1950-6112
ISSN	0003-3898
DOI	10.1684/abc.2024.1870
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Article: Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Goudet, Claire / Ged, Cécile / Petit, Audrey / Desage, Chloe / Mahe, Perrine / Salhi, Aicha / Harzallah, Ines / Blouin, Jean-Marc / Mercie, Patrick / Schmitt, Caroline / Poli, Antoine / Gouya, Laurent / Barlogis, Vincent / Richard, Emmanuel

Life (Basel, Switzerland)

2024 Volume 14, Issue 1

Abstract: 1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from ... ...

Abstract	(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4) Conclusions: The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives.
Language	English
Publishing date	2024-01-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life14010130
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Article: CRISPR editing to mimic porphyria combined with light: A new preclinical approach for prostate cancer.

Boutin, Julian / Genevois, Coralie / Couillaud, Franck / Lamrissi-Garcia, Isabelle / Guyonnet-Duperat, Veronique / Bibeyran, Alice / Lalanne, Magalie / Amintas, Samuel / Moranvillier, Isabelle / Richard, Emmanuel / Blouin, Jean-Marc / Dabernat, Sandrine / Moreau-Gaudry, François / Bedel, Aurélie

Molecular therapy. Oncology

2024 Volume 32, Issue 1, Page(s) 200772

Abstract: Thanks to its very high genome-editing efficiency, CRISPR-Cas9 technology could be a promising anticancer weapon. Clinical trials using CRISPR-Cas9 nuclease ... ...

Abstract	Thanks to its very high genome-editing efficiency, CRISPR-Cas9 technology could be a promising anticancer weapon. Clinical trials using CRISPR-Cas9 nuclease to
Language	English
Publishing date	2024-02-08
Publishing country	United States
Document type	Journal Article
ISSN	2950-3299
ISSN	2950-3299
DOI	10.1016/j.omton.2024.200772
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Article: Preventing hyperhomocysteinemia using vitamin B

Redonnet-Vernhet, Isabelle / Mercié, Patrick / Lebreton, Louis / Blouin, Jean-Marc / Bronnimann, Didier / Mesli, Samir / Guibet, Claire / Ribeiro, Emmanuel / Gensous, Noémie / Duffau, Pierre / Gouya, Laurent / Richard, Emmanuel

Molecular genetics and metabolism reports

2024 Volume 39, Page(s) 101076

Abstract: Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment ...

Abstract	Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration. On initiation of treatment, the patient developed a major hyperhomocysteinemia (>400 μmol/L) which necessitated to discontinue the siRNA-based therapy. A thorough metabolic analysis in the patient suggests that hyperhomocysteinemia could be attributed to a functional deficiency of cystathionine β-synthase (CBS) enzyme induced by givosiran. Long-term treatment with vitamin B
Language	English
Publishing date	2024-04-04
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2024.101076
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Article: An Orthotopic Model of Glioblastoma Is Resistant to Radiodynamic Therapy with 5-AminoLevulinic Acid.

Dupin, Charles / Sutter, Jade / Amintas, Samuel / Derieppe, Marie-Alix / Lalanne, Magalie / Coulibaly, Soule / Guyon, Joris / Daubon, Thomas / Boutin, Julian / Blouin, Jean-Marc / Richard, Emmanuel / Moreau-Gaudry, François / Bedel, Aurélie / Vendrely, Véronique / Dabernat, Sandrine

Cancers

2022 Volume 14, Issue 17

Abstract: Radiosensitization of glioblastoma is a major ambition to increase the survival of this incurable cancer. The 5-aminolevulinic acid (5-ALA) is metabolized by the heme biosynthesis pathway. 5-ALA overload leads to the accumulation of the intermediate ... ...

Abstract	Radiosensitization of glioblastoma is a major ambition to increase the survival of this incurable cancer. The 5-aminolevulinic acid (5-ALA) is metabolized by the heme biosynthesis pathway. 5-ALA overload leads to the accumulation of the intermediate fluorescent metabolite protoporphyrin IX (PpIX) with a radiosensitization potential, never tested in a relevant model of glioblastoma. We used a patient-derived tumor cell line grafted orthotopically to create a brain tumor model. We evaluated tumor growth and tumor burden after different regimens of encephalic multifractionated radiation therapy with or without 5-ALA. A fractionation scheme of 5 × 2 Gy three times a week resulted in intermediate survival [48-62 days] compared to 0 Gy (15-24 days), 3 × 2 Gy (41-47 days) and, 5 × 3 Gy (73-83 days). Survival was correlated to tumor growth. Tumor growth and survival were similar after 5 × 2 Gy irradiations, regardless of 5-ALA treatment (RT group (53-67 days), RT+5-ALA group (40-74 days), HR = 1.57,
Language	English
Publishing date	2022-08-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers14174244
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Article: Identification of novel

Blouin, Jean-Marc / Ged, Cécile / Bernardo-Seisdedos, Ganeko / Cabantous, Txomin / Pinson, Benoît / Poli, Antoine / Puy, Hervé / Millet, Oscar / Gouya, Laurent / Morice-Picard, Fanny / Richard, Emmanuel

Molecular genetics and metabolism reports

2021 Volume 27, Page(s) 100722

Abstract: Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. These ... ...

Abstract	Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. These phototoxic metabolites predominantly produced by the erythron result in ineffective erythropoiesis, chronic hemolysis and splenomegaly, but they also disseminate in tissues causing bullous photosensitivity to UV light and skin fragility that may progress to scarring with photo mutilation. Therapeutic management is currently limited to supportive care and bone marrow transplantation is reserved for the most severe cases. We describe here a 26-year-old women previously diagnosed with CEP harbouring two novel
Language	English
Publishing date	2021-02-11
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2021.100722
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Article ; Online: Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.

Prat, Florence / Toutain, Jérôme / Boutin, Julian / Amintas, Samuel / Cullot, Grégoire / Lalanne, Magalie / Lamrissi-Garcia, Isabelle / Moranvillier, Isabelle / Richard, Emmanuel / Blouin, Jean-Marc / Dabernat, Sandrine / Moreau-Gaudry, François / Bedel, Aurélie

Stem cell reports

2020 Volume 15, Issue 3, Page(s) 677–693

Abstract: CRISPR/Cas9 is a promising technology for gene correction. However, the edition is often biallelic, and uncontrolled small insertions and deletions (indels) concomitant to precise correction are created. Mutation-specific guide RNAs were recently tested ... ...

Abstract	CRISPR/Cas9 is a promising technology for gene correction. However, the edition is often biallelic, and uncontrolled small insertions and deletions (indels) concomitant to precise correction are created. Mutation-specific guide RNAs were recently tested to correct dominant inherited diseases, sparing the wild-type allele. We tested an original approach to correct compound heterozygous recessive mutations. We compared editing efficiency and genotoxicity by biallelic guide RNA versus mutant allele-specific guide RNA in iPSCs derived from a congenital erythropoietic porphyria patient carrying compound heterozygous mutations resulting in UROS gene invalidation. We obtained UROS function rescue and metabolic correction with both guides with the potential of use for porphyria clinical intervention. However, unlike the biallelic one, the mutant allele-specific guide was free of on-target collateral damage. We recommend this design to avoid genotoxicity and to obtain on-target scarless gene correction for recessive disease with frequent cases of compound heterozygous mutations.
MeSH term(s)	Alleles ; Base Sequence ; CRISPR-Associated Protein 9/metabolism ; CRISPR-Cas Systems/genetics ; Clone Cells ; Exons/genetics ; Gene Editing ; Genetic Therapy ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Karyotyping ; Mutation/genetics ; Porphyrias/genetics ; Porphyrias/therapy ; RNA, Guide, CRISPR-Cas Systems/metabolism ; Stem Cells/metabolism ; Uroporphyrinogen III Synthetase/genetics
Chemical Substances	RNA, Guide, CRISPR-Cas Systems ; CRISPR-Associated Protein 9 (EC 3.1.-) ; Uroporphyrinogen III Synthetase (EC 4.2.1.75)
Language	English
Publishing date	2020-08-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2720528-9
ISSN	2213-6711 ; 2213-6711
ISSN (online)	2213-6711
ISSN	2213-6711
DOI	10.1016/j.stemcr.2020.07.015
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Article ; Online: Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.

Blouin, Jean-Marc / Ged, Cécile / Lalanne, Magalie / Lamrissi-Garcia, Isabelle / Morice-Picard, Fanny / Costet, Pierre / Daher, Raêd / Moreau-Gaudry, François / Bedel, Aurélie / Puy, Hervé / Gouya, Laurent / Karim, Zoubida / Richard, Emmanuel

Blood

2020 Volume 136, Issue 21, Page(s) 2457–2468

Abstract: Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of nonphysiological porphyrin isomer I metabolites. Clinical features are heterogeneous ... ...

Abstract	Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of nonphysiological porphyrin isomer I metabolites. Clinical features are heterogeneous among patients with CEP but usually combine skin photosensitivity and chronic hemolytic anemia, the severity of which is related to porphyrin overload. Therapeutic options include symptomatic strategies only and are unsatisfactory. One promising approach to treating CEP is to reduce the erythroid production of porphyrins through substrate reduction therapy by inhibiting 5-aminolevulinate synthase 2 (ALAS2), the first and rate-limiting enzyme in the heme biosynthetic pathway. We efficiently reduced porphyrin accumulation after RNA interference-mediated downregulation of ALAS2 in human erythroid cellular models of CEP disease. Taking advantage of the physiological iron-dependent posttranscriptional regulation of ALAS2, we evaluated whether iron chelation with deferiprone could decrease ALAS2 expression and subsequent porphyrin production in vitro and in vivo in a CEP murine model. Treatment with deferiprone of UROS-deficient erythroid cell lines and peripheral blood CD34+-derived erythroid cultures from a patient with CEP inhibited iron-dependent protein ALAS2 and iron-responsive element-binding protein 2 expression and reduced porphyrin production. Furthermore, porphyrin accumulation progressively decreased in red blood cells and urine, and skin photosensitivity in CEP mice treated with deferiprone (1 or 3 mg/mL in drinking water) for 26 weeks was reversed. Hemolysis and iron overload improved upon iron chelation with full correction of anemia in CEP mice treated at the highest dose of deferiprone. Our findings highlight, in both mouse and human models, the therapeutic potential of iron restriction to modulate the phenotype in CEP.
MeSH term(s)	5-Aminolevulinate Synthetase/antagonists & inhibitors ; 5-Aminolevulinate Synthetase/biosynthesis ; 5-Aminolevulinate Synthetase/genetics ; Adult ; Anemia, Hemolytic/drug therapy ; Anemia, Hemolytic/etiology ; Animals ; CRISPR-Cas Systems ; Cell Line ; Cell Line, Tumor ; Deferiprone/therapeutic use ; Disease Models, Animal ; Erythroid Cells/drug effects ; Erythroid Cells/metabolism ; Female ; Gene Knock-In Techniques ; Humans ; Iron/metabolism ; Iron Chelating Agents/therapeutic use ; Iron Overload/drug therapy ; Iron Overload/etiology ; Leukemia, Erythroblastic, Acute/pathology ; Mice ; Peripheral Blood Stem Cells/drug effects ; Peripheral Blood Stem Cells/metabolism ; Photosensitivity Disorders/drug therapy ; Photosensitivity Disorders/etiology ; Porphyria, Acute Intermittent/metabolism ; Porphyria, Erythropoietic/complications ; Porphyria, Erythropoietic/drug therapy ; Porphyrins/biosynthesis ; RNA Interference ; RNA, Small Interfering/pharmacology
Chemical Substances	Iron Chelating Agents ; Porphyrins ; RNA, Small Interfering ; Deferiprone (2BTY8KH53L) ; Iron (E1UOL152H7) ; 5-Aminolevulinate Synthetase (EC 2.3.1.37) ; ALAS2 protein, human (EC 2.3.1.37) ; ALAS2 protein, mouse (EC 2.3.1.37)
Language	English
Publishing date	2020-07-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2020006037
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Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.

Mirmiran, Arienne / Poli, Antoine / Ged, Cecile / Schmitt, Caroline / Lefebvre, Thibaud / Manceau, Hana / Daher, Raêd / Moulouel, Boualem / Peoc'h, Katell / Simonin, Sylvie / Blouin, Jean-Marc / Deybach, Jean-Charles / Nicolas, Gaël / Puy, Hervé / Richard, Emmanuel / Gouya, Laurent

Haematologica

2021 Volume 106, Issue 3, Page(s) 913–917

MeSH term(s)	Humans ; Phlebotomy ; Porphyria, Erythropoietic/diagnosis ; Porphyria, Erythropoietic/therapy
Language	English
Publishing date	2021-03-01
Publishing country	Italy
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2019.228270
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Article ; Online: Late diagnosis of primary hyperoxaluria type III.

Richard, Emmanuel / Blouin, Jean-Marc / Harambat, Jérome / Llanas, Brigitte / Bouchet, Stéphane / Acquaviva, Cécile / de la Faille, Renaud

Annals of clinical biochemistry

2017 Volume 54, Issue 3, Page(s) 406–411

Abstract: We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose ... ...

Abstract	We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors. However, the persistence of excessive hyperoxaluria after his eating habits was changed leading us to perform molecular genetic testing. We found heterozygous mutations of the recently PH3-associated HOGA1 gene when sequencing PH genes. This is the first description of late diagnosis primary PH3 in a patient with several additional pro-lithogenic factors. This case illustrates the importance of undertaking a complete biological work-up to determine the aetiology of hyperoxaluria. This may reveal underdiagnosed primary hyperoxaluria, even in older patients.
MeSH term(s)	Aged ; Carcinoma, Renal Cell/diagnosis ; Carcinoma, Renal Cell/pathology ; Carcinoma, Renal Cell/surgery ; Delayed Diagnosis ; Gene Expression ; Glyceric Acids/urine ; Glycolates/urine ; Humans ; Hyperoxaluria, Primary/complications ; Hyperoxaluria, Primary/diagnosis ; Hyperoxaluria, Primary/genetics ; Hyperoxaluria, Primary/urine ; Kidney/metabolism ; Kidney/pathology ; Kidney/surgery ; Kidney Neoplasms/diagnosis ; Kidney Neoplasms/pathology ; Kidney Neoplasms/surgery ; Male ; Mutation ; Nephrectomy ; Oxo-Acid-Lyases/genetics ; Oxo-Acid-Lyases/metabolism ; Urolithiasis/complications ; Urolithiasis/diagnosis ; Urolithiasis/genetics ; Urolithiasis/urine
Chemical Substances	Glyceric Acids ; Glycolates ; glycolic acid (0WT12SX38S) ; glyceric acid (70KH64UX7G) ; Oxo-Acid-Lyases (EC 4.1.3.-) ; 4-hydroxy-2-oxoglutarate aldolase (EC 4.1.3.16)
Language	English
Publishing date	2017-05
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	390309-6
ISSN	1758-1001 ; 0004-5632
ISSN (online)	1758-1001
ISSN	0004-5632
DOI	10.1177/0004563216677101
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