22 results on '"C. Verhelst"'
Search Results
2. Longitudinal profiles of resting energy metabolism of adult covid-19 patients in intensive care
- Author
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C. Verhelst, J. Demol, J. Geers, E. De Waele, E. Valgaeren, Joop Jonckheer, and K. Huysentruyt
- Subjects
2019-20 coronavirus outbreak ,medicine.medical_specialty ,Nutrition and Dietetics ,Coronavirus disease 2019 (COVID-19) ,business.industry ,Endocrinology, Diabetes and Metabolism ,Intensive care ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Emergency medicine ,Energy metabolism ,medicine ,business ,Article - Published
- 2021
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3. Adequacy of nutritional therapy of covid-19 patients during their ICU and ward stay: better is worse
- Author
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Joop Jonckheer, C. Verhelst, E. De Waele, J. Geers, and J. Demol
- Subjects
medicine.medical_specialty ,Nutrition and Dietetics ,Coronavirus disease 2019 (COVID-19) ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine ,Medical nutrition therapy ,Intensive care medicine ,business ,Article - Published
- 2021
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4. Iatrogenic malnutrition is more prevalent in critically ill covid-19 patients than in non-covid-19 patients, especially when discharged to the ward
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C. Verhelst, J. Geers, Joop Jonckheer, E. De Waele, J. Demol, and I. Loodts
- Subjects
2019-20 coronavirus outbreak ,medicine.medical_specialty ,Nutrition and Dietetics ,Coronavirus disease 2019 (COVID-19) ,business.industry ,Critically ill ,Endocrinology, Diabetes and Metabolism ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,medicine.disease ,Article ,Malnutrition ,Medicine ,business ,Intensive care medicine - Published
- 2021
- Full Text
- View/download PDF
5. Birds of Manizales - Caldas, Colombia
- Author
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Juan C. Verhelst
- Subjects
Aves ,Manizales ,Diagnóstico biodiversidad ,Conservación ,Lista de especies ,Biology (General) ,QH301-705.5 - Published
- 2001
- Full Text
- View/download PDF
6. Quality improvement program of nutritional therapy on ICU: knowledge is power
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Herbert Spapen, S. Vanden Eynde, E. De Waele, Joeri Pen, C. Verhelst, Manu L N G Malbrain, Joop Jonckheer, and J. Demol
- Subjects
Power (social and political) ,medicine.medical_specialty ,Nutrition and Dietetics ,Quality management ,business.industry ,medicine ,Medical nutrition therapy ,Critical Care and Intensive Care Medicine ,Intensive care medicine ,business - Published
- 2018
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7. PT03.03: Peripheral Parenteral Nutrition and Occurence of Thrombophlebitis
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J. Demol, Hilde Collier, Manu L N G Malbrain, Herbert Spapen, Z. Rosseel, Garmt Meers, E. De Waele, Joeri Pen, and C. Verhelst
- Subjects
medicine.medical_specialty ,Nutrition and Dietetics ,Parenteral nutrition ,business.industry ,Internal medicine ,medicine ,Critical Care and Intensive Care Medicine ,business ,medicine.disease ,Thrombophlebitis ,Gastroenterology - Published
- 2019
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8. SYSTEMISCHE LUPUS ERYTHEMATOSUSGEASSOCIEERDE HEMOFAGOCYTAIRE LYMFOHISTIOCYTOSE
- Author
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A. Vonck, L.G.M.M. van Garsse, M. Dierick, F. Lacquet, and C. Verhelst
- Subjects
Autoimmune disease ,Gynecology ,medicine.medical_specialty ,Systemic disease ,Lupus erythematosus ,business.industry ,Immunopathology ,medicine ,General Medicine ,medicine.disease ,business ,Connective tissue disease - Abstract
Een patiente werd gehospitaliseerd met lymfadenopathie, koorts en een gegeneraliseeerd exantheem. Laboratoriumonderzoek toonde leucopenie, anemie, hyperferritinemie, verhoogde sedimentatie, gestegen CRP, complementverbruik, positieve anti-nuclaire factor-titer met positieve anti-dubbel strengig DNA antilichamen, negatieve p-ANCA en een fout positieve syfilis-test. Beenmergonderzoek toonde een groot aantal hemofagocyterende macrofagen. Diagnose van secundaire hemofagocytaire lymfohistiocytose bij een patiente met systemische lupus erythematosus werd vooropgesteld, een ernstige en soms fatale aandoening met vaak herhaalde opstoten van systemische lupus erythematosus, die langdurig actief kan blijven ondanks het gebruik van immunosuppressieve therapie. Hemofagocytaire lymfohistiocytose en systemische lupus erythematosus zijn vaak niet goed te onderscheiden, aangezien er frequent overlappingen zijn in klinische presentatie en biochemie. De diagnose berust op het klinisch beeld, bloed- en beenmergonder...
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- 2009
- Full Text
- View/download PDF
9. Contents Vol. 121, 2009
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Eibhlin Conneally, Li An, Kanokwan Sanchaisuriya, A.S. Araújo, M.N.N. Santos, L.R.S. Vasconcelos, Nicholas C. Zoumbos, Hiroshi Handa, Yoshihisa Nojima, F. Lacquet, Eleni D. Lagadinou, A. Ruiz-Sáez, Maria K. Angelopoulou, Theodoros P. Vassilakopoulos, Maria Rosaria D'Apice, Yoshiaki Ishigatsubo, Arito Yamane, Shin Fujisawa, Giuseppa Penna, Hirotaka Nakahashi, Caterina Musolino, Hiroyuki Fujita, Naoto Tomita, M.M. Speeckaert, Jian Ouyang, P. Moura, Rie Hyo, Olga Tsopra, Jing Wang, Jun Taguchi, Kengo Takeuchi, Anila Mitre, Shigeki Motomura, Chizuko Hashimoto, Alessandro Allegra, C. Verhelst, Supan Fucharoen, Gyo Jun, A. Koch, Sarah Daly, Sachiya Takemura, Goonnapa Fucharoen, Argiris Symeonidis, M.S.M. Cavalcanti, Bing Chen, T.F. Mendonça, Thawalwong Ratanasiri, Hideki Uchiumi, Masaru Kojima, Jae-Won Park, Michela Biancolella, Gerassimos A. Pangalis, Nattaya Sae-ung, Hirokazu Murakami, Y. Tersek, Panos G. Ziros, Angela Granata, Andrea Alonci, Rossarin Karnpean, Giuseppe Novelli, Jeong-Soo Im, Yonggong Yang, R. Speeckaert, Leila Baghernajad-Salehi, Yun-Jae Jung, M.A.C. Bezerra, Patricia Rizzotti, Norifumi Tsukamoto, Ju Young Seoh, Koji Ogawa, Silvia Russo, Federica Sangiuolo, Masamitsu Karasawa, Arianna D'Angelo, R. Marchi Cappelletti, Eleni Thanopoulou, Takayuki Saitoh, Alexandra Kouraklis-Symeonidis, Stephen E. Langabeer, Shi Chen, Chang-Hoon Jeon, Nicola Di Daniele, Vahe Mokini, Anila Babameto-Laku, M.C.V.C. Oliveira, M. Meyer, and Rongfu Zhou
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Hematology ,General Medicine - Published
- 2009
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10. Snel progressieve glomerulonefritis: het belang van een vroegtijdige diagnose en therapie
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Peeters P, De Meyer G, De Paepe M, C. Verhelst, and Vanholder R
- Subjects
General Medicine - Published
- 2007
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11. Determination of Tritiated Dexamethasone in Rat Liver and Muscle: Comparison of Two Sample Preparation Techniques, Combustion and Solubilization, Prior to Liquid Scintillation Counting
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Geert W. C. Verhelst, Luc Tirry, Carlos Van Peteghem, Guy Smagghe, and Guido Slegers
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Chromatography ,medicine.drug_class ,Liquid scintillation counting ,General Chemistry ,chemistry.chemical_compound ,chemistry ,medicine ,Corticosteroid ,Sample preparation ,Tritium ,Counts per minute ,General Agricultural and Biological Sciences ,Hydrogen peroxide ,Quantitative analysis (chemistry) ,Dexamethasone ,medicine.drug - Abstract
Rats were injected intramuscularly with 20 μCi/kg [3H]dexamethasone, which is a synthetic therapeutic glucocorticoid. After 2 h, the rats were sacrificed, and liver and muscle tissues were taken for assay. 3H radioactivity measurements were performed in a liquid scintillation counter. The objective of this study was to compare two sample preparation techniques, namely, alkaline solubilization versus dry combustion, to release the incorporated radioactivity quantitatively from rat liver and muscle; sample combustion has a recovery of 99 ± 1.0%. In addition, the effect of bleaching the samples with hydrogen peroxide was evaluated and quench correction curves were established. The current data demonstrated that the efficiencies of both methods were similar in the measurement of [3H]dexamethasone incorporated in rat liver and muscle tissues. For muscle, differences in disintegrations per minute (dpm) reached only 0.18%; for liver, the score was 0.78%. In conclusion, knowledge of the total radioactivity presen...
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- 1998
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12. A case of HELLP syndrome: an immuno-'logical' approach
- Author
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W A, Heggermont, C, Verhelst, K, De Wilde, M, De Paepe, F, Lacquet, and A, Vonck
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Adult ,Blood Platelets ,Diagnosis, Differential ,HELLP Syndrome ,Immunity, Cellular ,Platelet Aggregation ,Pregnancy ,Pregnancy Outcome ,Humans ,Female ,Follow-Up Studies - Abstract
We report on a 27-year-old woman who developed severe arterial hypertension on a background of general malaise within 48 hours after vaginal delivery, suggesting severe acute-onset pre-eclampsia. Concomitant biochemical observations of haemolysis, elevated liver tests and low platelets lead to the diagnosis of (post-partum) HELLP syndrome. Our patient was transferred immediately to the intensive care unit (ICU), where she underwent plasmapheresis in combination with intravenous glucocorticoids, nicardipine and labetalol. Our patient recovered fully after three plasmapheresis sessions. Genetic testing of mutations responsible for complement deficits was negative.
- Published
- 2012
13. Pelger-Huët anomaly: a critical review of the literature
- Author
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Reinhart Speeckaert, Marijn M. Speeckaert, A Koch, F Lacquet, and C Verhelst
- Subjects
Male ,Neutrophils ,Receptors, Cytoplasmic and Nuclear ,Laminopathy ,Biology ,Lamin B receptor ,Synteny ,Diagnosis, Differential ,Mice ,medicine ,Animals ,Humans ,Genes, Dominant ,Netherlands ,Genetics ,Mammals ,Leukemia ,Hematology ,General Medicine ,medicine.disease ,Chromatin ,Founder Effect ,Disease Models, Animal ,Myelodysplastic Syndromes ,Pelger–Huet anomaly ,Female ,Pelger-Huet Anomaly - Abstract
Pelger-Huët anomaly (PHA), an autosomal dominant haematological trait is characterised by neutrophil nuclear hypolobulation and modified chromatin distribution. Mutations in the lamin B receptor gene, a member of the sterol reductase family have been identified as the underlying cause. Due to its asymptomatic nature or lack of observer familiarity, PHA is often overlooked. In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy.
- Published
- 2009
14. [Systemic lupus erythematosus over hemophagocytic lymphohistiocytosis]
- Author
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M, Dierick, F, Lacquet, C, Verhelst, A, Vonck, and L, Van Garsse
- Subjects
Diagnosis, Differential ,Killer Cells, Natural ,Immunity, Cellular ,Ferritins ,Humans ,Lupus Erythematosus, Systemic ,Lymphohistiocytosis, Hemophagocytic - Abstract
A woman was admitted to the hospital with lymphadenopathy, fever and a generalised exanthema. Laboratory examination revealed leucopenia, anaemia, high sedimentation, elevated CRP and a markedly elevated serum ferritin. Further exploration showed a positive anti-nuclear factor-titre with anti-double-stranded DNA antibodies, positive p-ANCA and a falsely positive syphilis-test. Bone marrow examination revealed an elevated number of phagocytizing macrophages. Diagnosis of secondary haemophagocytic lymphohistiocytosis in a patient with systemic lupus erythematosus was made, a serious and sometimes fatal condition with often repeated exacerbations of the systemic lupus erythematosus that stays active for long periods in spite of the use of immunosuppressive therapy. Haemophagocytic lymphohistiocytosis and systemic lupus erythematosus are sometimes difficult to differentiate because the clinical presentation and laboratory findings are frequently very similar. The diagnosis depends on the clinical picture, blood and bone marrow examination. Bone marrow reveals an elevated haemophagocytosis. In patients with secondary haemophagocytic lymphohistiocytosis, the treatment of the underlying disorder is sometimes sufficient. In some cases there is need for a specific treatment with corticosteroids, intravenous immunoglobulin, immunosuppressive therapy or etoposide.
- Published
- 2009
15. Subject Index Vol. 121, 2009
- Author
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Theodoros P. Vassilakopoulos, Nicola Di Daniele, Vahe Mokini, Bing Chen, A. Ruiz-Sáez, Maria K. Angelopoulou, Hirotaka Nakahashi, Yoshiaki Ishigatsubo, Jae-Won Park, Gerassimos A. Pangalis, Eibhlin Conneally, P. Moura, Anila Babameto-Laku, Hiroyuki Fujita, Maria Rosaria D'Apice, M.N.N. Santos, L.R.S. Vasconcelos, Anila Mitre, Jun Taguchi, Supan Fucharoen, Rie Hyo, Jing Wang, Gyo Jun, Yoshihisa Nojima, Shi Chen, A. Koch, Federica Sangiuolo, Alessandro Allegra, Masaru Kojima, Patricia Rizzotti, Rossarin Karnpean, Thawalwong Ratanasiri, Chang-Hoon Jeon, Nicholas C. Zoumbos, Hiroshi Handa, Silvia Russo, Andrea Alonci, Arianna D'Angelo, F. Lacquet, Eleni D. Lagadinou, Shin Fujisawa, R. Marchi Cappelletti, M.C.V.C. Oliveira, Eleni Thanopoulou, Norifumi Tsukamoto, M.A.C. Bezerra, Takayuki Saitoh, Ju Young Seoh, Kengo Takeuchi, M.M. Speeckaert, Li An, M.S.M. Cavalcanti, Alexandra Kouraklis-Symeonidis, Stephen E. Langabeer, Koji Ogawa, Leila Baghernajad-Salehi, T.F. Mendonça, Shigeki Motomura, Olga Tsopra, Yonggong Yang, C. Verhelst, Masamitsu Karasawa, Sachiya Takemura, Argiris Symeonidis, Sarah Daly, M. Meyer, Rongfu Zhou, R. Speeckaert, Jeong-Soo Im, Hirokazu Murakami, Y. Tersek, Angela Granata, Yun-Jae Jung, Michela Biancolella, Arito Yamane, Caterina Musolino, Naoto Tomita, A.S. Araújo, Hideki Uchiumi, Kanokwan Sanchaisuriya, Jian Ouyang, Chizuko Hashimoto, Giuseppa Penna, Nattaya Sae-ung, Goonnapa Fucharoen, Panos G. Ziros, and Giuseppe Novelli
- Subjects
Index (economics) ,Statistics ,Subject (documents) ,Hematology ,General Medicine ,Mathematics - Published
- 2009
- Full Text
- View/download PDF
16. Corneal polarization in the living human eye explained with a biaxial model
- Author
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S C Verhelst and G. J. van Blokland
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Optics and Photonics ,Materials science ,genetic structures ,Light ,Models, Biological ,Pupil ,Cornea ,Optics ,Ellipsometry ,medicine ,Light beam ,Humans ,Ocular Physiological Phenomena ,Circular polarization ,Birefringence ,business.industry ,Optical polarization ,Polarization (waves) ,eye diseases ,Atomic and Molecular Physics, and Optics ,Electronic, Optical and Magnetic Materials ,medicine.anatomical_structure ,Human eye ,sense organs ,Computer Vision and Pattern Recognition ,business - Abstract
We have applied Mueller matrix ellipsometry to assess the change in the state of polarization of a light beam that has double passed the ocular media and is scattered at the fundus of the human eye in vivo. At several positions in the pupil plane, which together cover the area of the dilated pupil, Mueller matrices are assessed. From them the magnitude of the retardation and the orientation of the eigenvector are calculated. The properties of the retardation process are surveyed by measuring the retardation along a horizontal meridian as a function of wavelength, density of visual pigment, and location of retinal fixation. Furthermore, photographs are taken from the polarization patterns on the iris with circularly polarized light. We posit that the cornea behaves as a biaxial crystal with its fastest principal axis normal to its surface and its slowest nasally downward. The retardation of light by a model eye with such a cornea is calculated, and the results are compared with the data.
- Published
- 1987
17. Combined lateral extra-articular tenodesis and anterior cruciate ligament reconstruction: risk of osteoarthritis.
- Author
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Declercq J, Schuurmans M, Tack L, Verhelst C, and Truijen J
- Subjects
- Humans, Retrospective Studies, Knee Joint surgery, Tenodesis methods, Anterior Cruciate Ligament Injuries surgery, Anterior Cruciate Ligament Reconstruction methods, Osteoarthritis surgery, Joint Instability etiology
- Abstract
Purpose: Lateral extra-articular tenodesis (LET) procedure, combined with an intra-articular reconstruction of the anterior cruciate ligament (ACL), is used to reduce rotational laxity and the risk of graft failure. However, concern of overtightening of the lateral compartment and subsequent osteoarthritis remains. The aim of this study is to evaluate the degenerative changes in the lateral compartment and to compare the clinical and radiographical results between two LET techniques., Methods: Eighty-three patients (86 knees) were retrospectively reviewed at a mean of 67.7 months (range 49-85 months). Forty-two knees had an ACL reconstruction combined with a LET procedure according to the modified Lemaire technique and 44 knees according to the modified Coker-Arnold technique. IKDC, Lysholm, Tegner and VAS scores were used. Osteoarthritis was radiographically evaluated by the Kellgren-Lawrence classification., Results: There were 12 patients (28.6%) in the modified Lemaire subgroup and 13 patients (29.5%) in the modified Coker-Arnold subgroup that had doubtful or mild radiologic signs of osteoarthritis. No patients had moderate or severe signs at final follow-up. There was no significant difference in radiological signs of osteoarthritis. In the modified Lemaire subgroup, we report a mean IKDC of 86.31 (± 13.794), a mean Lysholm of 87.83 (± 12.802) and a mean Tegner of 5.38 (± 2.556). In the modified Coker-Arnold subgroup, a mean IKDC of 87.27 (± 11.653), a mean Lysholm of 91.89 (± 8.035) and a mean Tegner of 5.16 (± 2.420) were reported. There were no statistical significant differences between both techniques. In eight patients, a complication was identified, 3 of which had a failure of the ACL reconstruction., Conclusions: The chosen LET-technique seems to have minimal effect on both the clinical and the radiographic results. The LET is a safe procedure, and it does not increase the risk of osteoarthritis in the lateral compartment., (© 2022. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)
- Published
- 2023
- Full Text
- View/download PDF
18. [Bariatric surgery: The clinical pathway of the patient with a severe obesity surgery].
- Author
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Verkindt H, Verhelst C, and Skorupinski J
- Subjects
- Humans, Obesity, Morbid epidemiology, Patient Care Team organization & administration, Patient Care Team standards, Prevalence, Bariatric Surgery standards, Critical Pathways organization & administration, Critical Pathways standards, Critical Pathways statistics & numerical data, Obesity, Morbid surgery
- Abstract
Bariatric surgery is developing parallel to the increasing prevalence of severe obesity. Patient' care is guided by professional recommendations highlighting the key-role of multidisciplinary team in perioperative management. The clinical pathway, particularly adapted for bariatric surgery, allows the optimization of resources allocation and healthcare planning while improving the quality and efficiency (performance) of healthcare. The assessment (and adjustments) of clinical pathways allows measuring the impact of quality of care, patients' outcome and the effectiveness of healthcare. Additionally, the development of a clinical pathway fosters multidisciplinary team cohesion around the project., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
19. A case of HELLP syndrome: an immuno-"logical" approach.
- Author
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Heggermont WA, Verhelst C, De Wilde K, De Paepe M, Lacquet F, and Vonck A
- Subjects
- Adult, Diagnosis, Differential, Female, Follow-Up Studies, HELLP Syndrome immunology, HELLP Syndrome therapy, Humans, Pregnancy, Pregnancy Outcome, Blood Platelets immunology, HELLP Syndrome diagnosis, Immunity, Cellular, Platelet Aggregation immunology
- Abstract
We report on a 27-year-old woman who developed severe arterial hypertension on a background of general malaise within 48 hours after vaginal delivery, suggesting severe acute-onset pre-eclampsia. Concomitant biochemical observations of haemolysis, elevated liver tests and low platelets lead to the diagnosis of (post-partum) HELLP syndrome. Our patient was transferred immediately to the intensive care unit (ICU), where she underwent plasmapheresis in combination with intravenous glucocorticoids, nicardipine and labetalol. Our patient recovered fully after three plasmapheresis sessions. Genetic testing of mutations responsible for complement deficits was negative.
- Published
- 2012
- Full Text
- View/download PDF
20. Autoimmune haemolytic anaemia associated with a thymoma: case report and review of the literature.
- Author
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De Keyzer K, Peeters P, Verhelst C, Dendooven A, Vonck A, and Vanholder R
- Subjects
- Aged, Anemia, Hemolytic, Autoimmune drug therapy, Female, Glucocorticoids administration & dosage, Humans, Prednisone administration & dosage, Thymectomy, Thymoma pathology, Thymoma surgery, Thymus Neoplasms pathology, Thymus Neoplasms surgery, Anemia, Hemolytic, Autoimmune etiology, Thymoma complications, Thymus Neoplasms complications
- Abstract
A 67-year-old female presents with a small mass in the anterior mediastinum on chest computed tomography. A biopsy proves the mass to be a spindle-cell-type or type A thymoma. Subsequently the patient develops fever and severe Coombs-positive haemolytic anaemia. She is initially treated with oral corticosteroids. Because of persistence of the haemolysis subsequent thymectomy is performed. Haemolysis disappears almost instantly and does not return after discontinuation of the oral corticosteroids. Review of the literature reveals only 17 other cases of thymoma-associated autoimmune haemolytic anaemia.
- Published
- 2009
- Full Text
- View/download PDF
21. [Systemic lupus erythematosus over hemophagocytic lymphohistiocytosis].
- Author
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Dierick M, Lacquet F, Verhelst C, Vonck A, and Van Garsse L
- Subjects
- Diagnosis, Differential, Ferritins blood, Humans, Killer Cells, Natural immunology, Killer Cells, Natural metabolism, Immunity, Cellular, Lupus Erythematosus, Systemic blood, Lupus Erythematosus, Systemic diagnosis, Lupus Erythematosus, Systemic immunology, Lymphohistiocytosis, Hemophagocytic blood, Lymphohistiocytosis, Hemophagocytic diagnosis, Lymphohistiocytosis, Hemophagocytic immunology
- Abstract
A woman was admitted to the hospital with lymphadenopathy, fever and a generalised exanthema. Laboratory examination revealed leucopenia, anaemia, high sedimentation, elevated CRP and a markedly elevated serum ferritin. Further exploration showed a positive anti-nuclear factor-titre with anti-double-stranded DNA antibodies, positive p-ANCA and a falsely positive syphilis-test. Bone marrow examination revealed an elevated number of phagocytizing macrophages. Diagnosis of secondary haemophagocytic lymphohistiocytosis in a patient with systemic lupus erythematosus was made, a serious and sometimes fatal condition with often repeated exacerbations of the systemic lupus erythematosus that stays active for long periods in spite of the use of immunosuppressive therapy. Haemophagocytic lymphohistiocytosis and systemic lupus erythematosus are sometimes difficult to differentiate because the clinical presentation and laboratory findings are frequently very similar. The diagnosis depends on the clinical picture, blood and bone marrow examination. Bone marrow reveals an elevated haemophagocytosis. In patients with secondary haemophagocytic lymphohistiocytosis, the treatment of the underlying disorder is sometimes sufficient. In some cases there is need for a specific treatment with corticosteroids, intravenous immunoglobulin, immunosuppressive therapy or etoposide.
- Published
- 2009
- Full Text
- View/download PDF
22. Pelger-Huët anomaly: a critical review of the literature.
- Author
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Speeckaert MM, Verhelst C, Koch A, Speeckaert R, and Lacquet F
- Subjects
- Animals, Chromatin ultrastructure, Diagnosis, Differential, Disease Models, Animal, Female, Founder Effect, Genes, Dominant, Humans, Leukemia diagnosis, Male, Mammals genetics, Mice, Myelodysplastic Syndromes diagnosis, Netherlands epidemiology, Neutrophils ultrastructure, Receptors, Cytoplasmic and Nuclear deficiency, Receptors, Cytoplasmic and Nuclear genetics, Receptors, Cytoplasmic and Nuclear physiology, Synteny, Lamin B Receptor, Pelger-Huet Anomaly blood, Pelger-Huet Anomaly diagnosis, Pelger-Huet Anomaly epidemiology, Pelger-Huet Anomaly genetics, Pelger-Huet Anomaly physiopathology
- Abstract
Pelger-Huët anomaly (PHA), an autosomal dominant haematological trait is characterised by neutrophil nuclear hypolobulation and modified chromatin distribution. Mutations in the lamin B receptor gene, a member of the sterol reductase family have been identified as the underlying cause. Due to its asymptomatic nature or lack of observer familiarity, PHA is often overlooked. In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy., (Copyright (c) 2009 S. Karger AG, Basel.)
- Published
- 2009
- Full Text
- View/download PDF
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