aurelie fabre | University College Dublin (original) (raw)

Papers by aurelie fabre

Research paper thumbnail of <b><i>CSF2RB</i></b>mutation related hereditary PAP the “long and winding road” into adulthood

ERJ Open Research, Oct 31, 2023

Research paper thumbnail of ERS International Congress, Madrid, 2019: highlights from the Epidemiology and Environment Assembly

ERJ Open Research, 2020

At the European Respiratory Society's International Congress of 2019, which was held in Madri... more At the European Respiratory Society's International Congress of 2019, which was held in Madrid, Spain, there were several sessions with exciting poster and oral presentations within the fields of epidemiology and tobacco control. This article is the summary of two of these sessions. One was on the use of Big Data in epidemiology and the other, on the global burden of respiratory disease and tobacco.

Research paper thumbnail of Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease

European Respiratory Journal, 2009

The present authors report the case of an adult with chronic granulomatous disease who developed ... more The present authors report the case of an adult with chronic granulomatous disease who developed an unusual lung fibrosis associated with severe pulmonary hypertension. Histological analysis of a lung biopsy showed a diffuse infiltration with pigmented macrophages without granulomas, which particularly involved the pulmonary arterial and venular walls. Clinical and histological findings were suggestive of pulmonary veno-occlusive disease. Such a clinical association has not been previously described in the literature and might be due to the persistent expression of gp91phox at a very low level. In conclusion, the present case report illustrates a novel manifestation of chronic granulomatous disease.

Research paper thumbnail of Imaging lipid bodies in cells and tissues using third-harmonic generation microscopy

Nature Methods, 2005

Lipid bodies have an important role in energy storage and lipid regulation. Here we show that lip... more Lipid bodies have an important role in energy storage and lipid regulation. Here we show that lipid bodies are a major source of contrast in third-harmonic generation (THG) microscopy of cells and tissues. In hepatocytes, micrometer-sized lipid bodies produce a THG signal 1-2 orders of magnitude larger than other structures, which allows one to image them with high specificity. THG microscopy with B1,200 nm excitation can be used to follow the distribution of lipid bodies in a variety of unstained samples including insect embryos, plant seeds and intact mammalian tissue (liver, lung). We found that epi-THG imaging is possible in weakly absorbing tissues because bulk scattering redirects a substantial fraction of the forward-generated harmonic light toward the objective. Finally, we show that the combination of THG microscopy with two-photon and second-harmonic imaging provides a new tool for exploring the interactions between lipid bodies, extracellular matrix and fluorescent compounds (vitamin A, NADH and others) in tissues.

Research paper thumbnail of Histologic scoring of liver biopsy in focal nodular hyperplasia with atypical presentation

Hepatology, 2002

The contribution of radio-guided transcutaneous biopsy in the diagnosis of focal nodular hyperpla... more The contribution of radio-guided transcutaneous biopsy in the diagnosis of focal nodular hyperplasia (FNH) of the liver was compared with the findings on surgical specimens to assess its contribution in clinical and radiologic atypical cases. This retrospective study involved 30 patients with atypical tumors on imaging who underwent liver biopsy and then surgery. All surgical specimens were diagnosed as FNH, either classical (n ‫؍‬ 18) or nonclassical (n ‫؍‬ 12). Imaging data were reviewed according to 4 radiologic criteria on magnetic resonance imaging (MRI) and/or computed tomography (CT) scan (hypervascularity, homogeneity, nonencapsulation, and presence of a central scar), and classified depending on the number of criteria found (group I, 4 of 4; group II, 3 of 4; group III, 2 or fewer). Histologic assessment of ultrasound (US)-guided liver biopsy recorded major diagnostic features (fibrous bands, thick-walled vessels, reactive ductules, and nodularity) and minor features (sinusoidal dilatation and perisinusoidal fibrosis). "Definite FNH" (3 or 4 major features) was diagnosed in 14 biopsies, "possible FNH" (2 major and 1 or 2 minor features) in 7 cases, and "negative for FNH" (2 or fewer major features without minor features) in 9 cases. The diagnosis of FNH on biopsy was reached in 14 cases (58.3%) in patients with 2 or fewer imaging criteria (group III; n ‫؍‬ 24). Biopsies with a diagnosis of "possible FNH" corresponded to a large proportion of telangiectatic-type FNH on the specimen. In conclusion, liver biopsy does not appear to be necessary in cases in which imaging is typical. However, the absence of radiologic diagnostic criteria in FNH does not preclude a positive diagnosis on liver needle biopsy. Using the proposed histologic scoring system, surgical management may be avoided in these cases. (HEPATOLOGY 2002;35:414-420.) Abbreviations: FNH, focal nodular hyperplasia; CT, computed tomography; MRI, magnetic resonance imaging; US, ultrasound.

Research paper thumbnail of Intraductal acinar cell carcinoma of the pancreas

Virchows Archiv, 2001

We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in ... more We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in a 74-year-old man, which presented as recurrent episodes of acute pancreatitis. Endoscopic ultrasound examination revealed an intraductal mass bulging into the main pancreatic duct suggesting, pre-operatively, an intraductal mucinous papillary tumour. Gross examination showed several dilated branch ducts that contained haemorrhagic tumour material without any solid or true cystic formation within the pancreatic parenchyma. Using histology, a purely intraductal acinar cell carcinoma was observed, involving branch ducts only, associated with foci of carcinoma in situ in adjacent exocrine parenchyma. The main pancreatic duct was free of disease except for its communication with a cancerous branch duct. A concomitant neuroendocrine microadenoma was incidentally found during slide screening. Immunohistochemistry performed on the intraductal proliferation confirmed zymogen secretion with positive staining for alpha-1 anti-chymotrypsin and anti-trypsin and the persistence of diastase-periodic acid-Schiff positive granules in the apical pole of the tumour cells. Neuroendocrine markers were negative in the acinar cell carcinoma and positive in the neuroendocrine microadenoma. To our knowledge, this is the first report of an intraductal acinar cell carcinoma of the pancreas involving branch ducts and sparing the main pancreatic duct.

Research paper thumbnail of Sudden adult death syndrome and other non-ischaemic causes of sudden cardiac death

Heart, 2006

Objective: To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years... more Objective: To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years including elderly patients and to highlight the concept of the structurally normal heart in sudden death. Methods: Pathological data were collected prospectively for sudden adult deaths referred by UK coroners. Results: 453 cases of sudden death from 1994 to 2003 (278 men (61.4%) and 175 women (38.6%), age range 15-81 years) were reviewed. Males predominated in both age groups (( 35 years, . 35 years). More than half of the hearts (n = 269, 59.3%) were structurally normal. In the other 40.7%, cardiac abnormalities were noted, which included: (1) cardiomyopathies (23%) such as idiopathic fibrosis, left ventricular hypertrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic right ventricular dysplasia; (2) inflammatory disorders (8.6%) including lymphocytic myocarditis and cardiac sarcoidosis; (3) non-atheromatous abnormalities of coronary arteries (4.6%); (4) valve diseases; and (5) miscellaneous and rare causes. Conclusion: The concept of the structurally normal heart in sudden death and the need for histological examination to detect underlying disease is highlighted. Relatives need to be referred for cardiological and genetic screening in cases of normal hearts found at necropsy.

Research paper thumbnail of <b><i>CSF2RB</i></b>mutation related hereditary PAP the “long and winding road” into adulthood

ERJ Open Research, Oct 31, 2023

Research paper thumbnail of ERS International Congress, Madrid, 2019: highlights from the Epidemiology and Environment Assembly

ERJ Open Research, 2020

At the European Respiratory Society's International Congress of 2019, which was held in Madri... more At the European Respiratory Society's International Congress of 2019, which was held in Madrid, Spain, there were several sessions with exciting poster and oral presentations within the fields of epidemiology and tobacco control. This article is the summary of two of these sessions. One was on the use of Big Data in epidemiology and the other, on the global burden of respiratory disease and tobacco.

Research paper thumbnail of Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease

European Respiratory Journal, 2009

The present authors report the case of an adult with chronic granulomatous disease who developed ... more The present authors report the case of an adult with chronic granulomatous disease who developed an unusual lung fibrosis associated with severe pulmonary hypertension. Histological analysis of a lung biopsy showed a diffuse infiltration with pigmented macrophages without granulomas, which particularly involved the pulmonary arterial and venular walls. Clinical and histological findings were suggestive of pulmonary veno-occlusive disease. Such a clinical association has not been previously described in the literature and might be due to the persistent expression of gp91phox at a very low level. In conclusion, the present case report illustrates a novel manifestation of chronic granulomatous disease.

Research paper thumbnail of Imaging lipid bodies in cells and tissues using third-harmonic generation microscopy

Nature Methods, 2005

Lipid bodies have an important role in energy storage and lipid regulation. Here we show that lip... more Lipid bodies have an important role in energy storage and lipid regulation. Here we show that lipid bodies are a major source of contrast in third-harmonic generation (THG) microscopy of cells and tissues. In hepatocytes, micrometer-sized lipid bodies produce a THG signal 1-2 orders of magnitude larger than other structures, which allows one to image them with high specificity. THG microscopy with B1,200 nm excitation can be used to follow the distribution of lipid bodies in a variety of unstained samples including insect embryos, plant seeds and intact mammalian tissue (liver, lung). We found that epi-THG imaging is possible in weakly absorbing tissues because bulk scattering redirects a substantial fraction of the forward-generated harmonic light toward the objective. Finally, we show that the combination of THG microscopy with two-photon and second-harmonic imaging provides a new tool for exploring the interactions between lipid bodies, extracellular matrix and fluorescent compounds (vitamin A, NADH and others) in tissues.

Research paper thumbnail of Histologic scoring of liver biopsy in focal nodular hyperplasia with atypical presentation

Hepatology, 2002

The contribution of radio-guided transcutaneous biopsy in the diagnosis of focal nodular hyperpla... more The contribution of radio-guided transcutaneous biopsy in the diagnosis of focal nodular hyperplasia (FNH) of the liver was compared with the findings on surgical specimens to assess its contribution in clinical and radiologic atypical cases. This retrospective study involved 30 patients with atypical tumors on imaging who underwent liver biopsy and then surgery. All surgical specimens were diagnosed as FNH, either classical (n ‫؍‬ 18) or nonclassical (n ‫؍‬ 12). Imaging data were reviewed according to 4 radiologic criteria on magnetic resonance imaging (MRI) and/or computed tomography (CT) scan (hypervascularity, homogeneity, nonencapsulation, and presence of a central scar), and classified depending on the number of criteria found (group I, 4 of 4; group II, 3 of 4; group III, 2 or fewer). Histologic assessment of ultrasound (US)-guided liver biopsy recorded major diagnostic features (fibrous bands, thick-walled vessels, reactive ductules, and nodularity) and minor features (sinusoidal dilatation and perisinusoidal fibrosis). "Definite FNH" (3 or 4 major features) was diagnosed in 14 biopsies, "possible FNH" (2 major and 1 or 2 minor features) in 7 cases, and "negative for FNH" (2 or fewer major features without minor features) in 9 cases. The diagnosis of FNH on biopsy was reached in 14 cases (58.3%) in patients with 2 or fewer imaging criteria (group III; n ‫؍‬ 24). Biopsies with a diagnosis of "possible FNH" corresponded to a large proportion of telangiectatic-type FNH on the specimen. In conclusion, liver biopsy does not appear to be necessary in cases in which imaging is typical. However, the absence of radiologic diagnostic criteria in FNH does not preclude a positive diagnosis on liver needle biopsy. Using the proposed histologic scoring system, surgical management may be avoided in these cases. (HEPATOLOGY 2002;35:414-420.) Abbreviations: FNH, focal nodular hyperplasia; CT, computed tomography; MRI, magnetic resonance imaging; US, ultrasound.

Research paper thumbnail of Intraductal acinar cell carcinoma of the pancreas

Virchows Archiv, 2001

We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in ... more We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in a 74-year-old man, which presented as recurrent episodes of acute pancreatitis. Endoscopic ultrasound examination revealed an intraductal mass bulging into the main pancreatic duct suggesting, pre-operatively, an intraductal mucinous papillary tumour. Gross examination showed several dilated branch ducts that contained haemorrhagic tumour material without any solid or true cystic formation within the pancreatic parenchyma. Using histology, a purely intraductal acinar cell carcinoma was observed, involving branch ducts only, associated with foci of carcinoma in situ in adjacent exocrine parenchyma. The main pancreatic duct was free of disease except for its communication with a cancerous branch duct. A concomitant neuroendocrine microadenoma was incidentally found during slide screening. Immunohistochemistry performed on the intraductal proliferation confirmed zymogen secretion with positive staining for alpha-1 anti-chymotrypsin and anti-trypsin and the persistence of diastase-periodic acid-Schiff positive granules in the apical pole of the tumour cells. Neuroendocrine markers were negative in the acinar cell carcinoma and positive in the neuroendocrine microadenoma. To our knowledge, this is the first report of an intraductal acinar cell carcinoma of the pancreas involving branch ducts and sparing the main pancreatic duct.

Research paper thumbnail of Sudden adult death syndrome and other non-ischaemic causes of sudden cardiac death

Heart, 2006

Objective: To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years... more Objective: To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years including elderly patients and to highlight the concept of the structurally normal heart in sudden death. Methods: Pathological data were collected prospectively for sudden adult deaths referred by UK coroners. Results: 453 cases of sudden death from 1994 to 2003 (278 men (61.4%) and 175 women (38.6%), age range 15-81 years) were reviewed. Males predominated in both age groups (( 35 years, . 35 years). More than half of the hearts (n = 269, 59.3%) were structurally normal. In the other 40.7%, cardiac abnormalities were noted, which included: (1) cardiomyopathies (23%) such as idiopathic fibrosis, left ventricular hypertrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic right ventricular dysplasia; (2) inflammatory disorders (8.6%) including lymphocytic myocarditis and cardiac sarcoidosis; (3) non-atheromatous abnormalities of coronary arteries (4.6%); (4) valve diseases; and (5) miscellaneous and rare causes. Conclusion: The concept of the structurally normal heart in sudden death and the need for histological examination to detect underlying disease is highlighted. Relatives need to be referred for cardiological and genetic screening in cases of normal hearts found at necropsy.