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See detailClinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
HARVENGT, Julie ULg; wanty, catherine; De Paepe, Boel et al

in Molecular Genetics and Metabolism Reports (2014)

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the ... [more ▼]

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT). Clinical follow-up showed mild developmental delay, strabism, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization, without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabism and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17 related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions, and influence the outcome in consanguineous families. Immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA related mitochondrial disorders. [less ▲]

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See detailClinical Vignette. Tetralogy of Fallot Associated with a Patent Ductus Arteriosus in a German Shepherd Dog
Mc Entee, Kathleen ULg; Snaps, Frédéric ULg; Clercx, Cécile ULg et al

in Journal of Veterinary Internal Medicine (1998), 12(1, Jan-Feb), 53-5

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See detailClinical virology of ruminants
Thiry, Etienne ULg

Book published by Editions du Point Vétérinaire (2007)

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See detailClinical virology of swine
Thiry, Etienne ULg

Book published by Editions du Point Vétérinaire (2005)

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See detailClinical virology of the dog and cat
Thiry, Etienne ULg

Book published by Editions du Point Vétérinaire (2006)

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See detailClinical, bronchoscopic, histopathologic, diagnostic imaging, and arterial oxygenation findings in West Highland White Terriers with idiopathic pulmonary fibrosis.
Heikkilä, H. P.; Lappalaïnen, A. K.; Day, M. J. et al

in Journal of Veterinary Internal Medicine (2011)

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic, interstitial lung disease primarily affecting West Highland White Terriers (WHWTs). OBJECTIVE: To describe the clinicopathological and ... [more ▼]

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic, interstitial lung disease primarily affecting West Highland White Terriers (WHWTs). OBJECTIVE: To describe the clinicopathological and diagnostic imaging features in WHWTs with IPF. ANIMALS: Twelve WHWTs with IPF and 14 healthy control WHWTs. METHOD: Prospective study. Clinical signs and findings of physical examination, blood and arterial blood gas analyses, radiography, high-resolution computed tomography (HRCT), bronchoscopy and bronchoalveolar lavage (BAL) of IPF dogs were obtained and compared with controls. Histopathologic changes in IPF dogs were evaluated. RESULTS: Mean partial pressure of oxygen was significantly lower in IPF (mean ± SD, 65.5 ± 15.4 mmHg) than in controls (99.1 ± 7.8 mmHg, P<.001). The alveolar-arterial oxygen gradient was significantly higher in IPF (50.1 ± 17.3 mmHg) than in controls (17.5 ± 4.9 mmHg, P<.001). In HRCT, ground glass opacity (GGO) was detected in all IPF dogs, traction bronchiectasis in 4, and honeycombing in 1. Bronchoscopic airway changes were noted in all IPF dogs. On BAL fluid (BALF) cytology, the total cell count (TCC) was higher in IPF dogs, and the numbers but not the percentages of macrophages, neutrophils, and mast cells were increased. On histopathology, multifocal or diffuse interstitial fibrosis, type II pneumocyte hyperplasia, prominent intraalveolar macrophages, distortion of alveolar architecture, and emphysematous change were detected. CONCLUSION AND CLINICAL IMPORTANCE: IPF causes substantial hypoxemia. In HRCT, GGO is a consistent finding. IPF dogs have concurrent airway changes and an increase in BALF TCC. [less ▲]

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See detailClinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
Uwineza, Annette; PIERQUIN, Geneviève ULg; GAILLEZ, Stephanie ULg et al

in Genetic counseling (Geneva, Switzerland) (2013), 24(2), 193-200

The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13 ... [more ▼]

The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13, resulting in deletion of 13qter. The first patient, a 15 year-old boy, presented a delayed psychomotor development, mental retardation, dysmorphic features and bleeding disorders associated with a de novo terminal 13q34 deletion. The second case was a foetus of 31 weeks with prenatal diagnosis of severe malformation such as holoprosencephaly, congenital cardiac defects, gastro-intestinal abnormalities with intrauterine growth retardation, the molecular analysis showed a de novo deletion encompassing the region 13q31.3-q34. [less ▲]

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See detailClinical, electrocardiographic and echocardiographic improvements after L-carnitine supplementation in cardiomyopathic dog.
Mc Entee, Kathleen ULg; Clercx, Cécile ULg; Snaps, Frédéric ULg et al

in Canine Practice (1995), 20(2), 12-15

In dogs suffering from dilated cardiomyopathy, myocardial concentrations of L-carnitine are sometimes very low. A Labrador suffering from dilated cardiomyopathy was treated with L-carnitine. The dog ... [more ▼]

In dogs suffering from dilated cardiomyopathy, myocardial concentrations of L-carnitine are sometimes very low. A Labrador suffering from dilated cardiomyopathy was treated with L-carnitine. The dog showed a clear and rapid clinical improvement as well as an improvement of electrocardiographic and echocardiographic indices of cardiac function. Screening by myocardial biopsy in dogs affected by dilated cardiomyopathy and in susceptible breeds is recommended. The dog had been maintained on a strict vegetarian diet. [less ▲]

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See detailClinical, histopathological and immunological aspects of neosporosis in experimentally infected dogs
Lasri, Saadia ULg; Rettigner, C.; Onclin, K. et al

Conference (2003)

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See detailClinical, pathological and diagnostic aspects of congenital neosporosis in a series of naturally infected calves
de Meerschman, F.; Focant, Charles ULg; Detry, Jacques et al

in Veterinary Record : Journal of the British Veterinary Association (2005), 157(4), 115-118

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See detailThe clinical, pathological, and genetic features of familial isolated pituitary adenomas
Beckers, Albert ULg; Daly, Adrian ULg

in European Journal of Endocrinology (2007), 157(4), 371-382

Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated ... [more ▼]

Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome retated only to patients with acrogigantism. Pituitary adenomas of all types - not limited to IFS - can occur in a familial setting in the absence of MEN1 and CNC; this phenotype is tcrmed familial isolated pituitary adenomas (FIPA). Over the past 7 years, we have described over 90 FIPA kindreds. In FIPA, both homogeneous and heterogeneous pituitary adenoma phenotypes can occur within families; virtually all FIPA kindreds contain at least one prolactinoma or somatotropinoma. FIPA differs from MEN1 in terms of a lower proportion of prolactinomas and more frequent somatotropinomas in the FIPA cohort. Patients with FIPA are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. A minority of FIPA families overall (15%) exhibit mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene; AIP mutations are present in only half of IFS kindreds occurring as part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have a penetrance of over 50%. AIP mutations are extremely rare in patients with sporadic pituitary adenomas. This review deals with pituitary adenomas that occur in a familial setting, describes in detail the clinical, pathological, and genetic features of FIPA, and addresses aspects of the clinical approach to FIPA families with and without AIP mutations. [less ▲]

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See detailClinical, virological, and immunological parameters associated with superinfection of latently with FeHV-1 infected cats
Richter, M.; Schudel, L.; Tobler, K. et al

in Veterinary Microbiology (2009)

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See detailClinically meaningful effect of strontium ranelate on knee osteoarthritis symptoms
Bruyère, Olivier ULg; Bellamy, N; Brown, J et al

in Arthritis and Rheumatism (2012), 64(S10), 110

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See detailClinically meaningful effect of strontium ranelate on symptoms in knee osteoarthritis: a responder analysis
Bruyère, Olivier ULg; Reginster, Jean-Yves ULg; Bellamy, Nicholas et al

in Rheumatology (2014), 53

Objectives. The aim of this study was to assess the efficacy of strontium ranelate in improving symptoms in knee OA. Methods. Symptoms were assessed over 3 years in patients with primary knee OA receiving ... [more ▼]

Objectives. The aim of this study was to assess the efficacy of strontium ranelate in improving symptoms in knee OA. Methods. Symptoms were assessed over 3 years in patients with primary knee OA receiving strontium ranelate 2 g/day (n = 454), 1 g/day (n = 445) or placebo (n = 472) in the Strontium Ranelate Efficacy in Knee Osteoarthritis Trial. Clinical response was evaluated using WOMAC subscores, minimal perceptible clinical improvement (MPCI), minimal clinically important improvement (MCII) and a modified OMERACT Osteoarthritis Research Society International (OARSI) responder definition. Patients who withdrew prematurely from the study were considered non-responders. Results. There was no significant effect on symptoms for strontium ranelate 1 g/day. At the dosage of 2 g/day, strontium ranelate was associated with greater response than placebo in terms of 520% improvement in WOMAC pain from baseline to the last visit (58% vs 47%, P = 0.002) and 550% improvement in WOMAC pain (42% vs 36%, P = 0.083). Significant differences were found in MPCI response for WOMAC pain (52% vs 40%, P<0.001), stiffness (47% vs 39%, P = 0.009) and physical function (46% vs 37%, P = 0.009) and in MCII response for WOMAC physical function (46% vs 37%, P = 0.013). There were also more OMERACT-OARSI-like responders with strontium ranelate (44% vs 35%, P = 0.004). The treatment placebo difference in MPCI response for WOMAC pain was significant after 6 months (P = 0.024), while that in MPCI and MCII response for WOMAC physical function reached significance after 12 months (P = 0.027 and P = 0.019, respectively). Conclusion. Treatment with strontium ranelate 2 g/day over 3 years is associated with a clinically meaningful improvement in pain from 6 months as well as physical function and stiffness as assessed by the number of responders above thresholds of clinical relevance. [less ▲]

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See detailA clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.
Salvatori, Roberto; Daly, Adrian ULg; Quinones-Hinojosa, Alfredo et al

in Endocrinology, diabetes & metabolism case reports (2014), 2014

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated ... [more ▼]

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease. LEARNING POINTS: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure. [less ▲]

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See detailClinico-pathological prognostic factors of IgA vasculitis
Bovy, Christophe ULg; Parotte, Marie-Christine ULg; Krzesinski, Jean-Marie ULg

in Acta Clinica Belgica (2007, October), 62(5), 369

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See detailA clinico-pathological report of SCA17 associated with a heterozygote small trinucleotide expansion
Garraux, Gaëtan ULg; Moonen, Gustave ULg; Deprez, Manuel ULg

in Movement Disorders : Official Journal of the Movement Disorder Society (2009), 24(Suppl. 1), 12-12

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See detailClinicopathologic analysis of appendiceal tumors from 1,237 apendectomies
Tchanasato, V.; Laurent, S.; Thiry, Albert ULg et al

in Acta Gastro-Enterologica Belgica (2005, January), 68(1), 08

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See detailClinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
Venturini, Giulia; Moulin, Alexandre P.; DEPREZ, Manuel ULg et al

in Ophthalmology (2012), 119(4), 857-64

PURPOSE: To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog ... [more ▼]

PURPOSE: To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog (PTEN) and neurofibromin 2 (NF2) genes in this rare intraocular tumor. DESIGN: Observational case report. PARTICIPANT: A 10-year-old girl diagnosed with PHTS. METHODS: The enucleated specimen underwent histologic, immunohistochemical, and transmission electronic microscopy. The expression of PTEN and NF2 and their protein products were evaluated by reverse transcription-polymerase chain reaction and immunohistochemistry. Somatic mutations of PTEN and NF2, as well as allelic loss, were investigated by direct sequencing of DNA extracted from the tumor. PTEN epigenetic silencing was investigated by pyrosequencing. MAIN OUTCOME MEASURES: Histopathologic and molecular characterization of a choroidal pigmented schwannoma. RESULTS: Histopathologic, immunohistochemical, and electron microscopic analysis demonstrated features consistent with a pigmented cellular schwannoma of the choroid. We found no loss of heterozygosity at the genomic level for the PTEN germline mutation and no promoter hypermethylation or other somatic intragenic mutations. However, we observed an approximate 40% reduction of PTEN expression at both the mRNA and the protein level, indicating that the tumor was nonetheless functionally deficient for PTEN. Although DNA sequencing of NF2 failed to identify any pathologic variants, its expression was abolished within the tumor. CONCLUSIONS: We report the first description of a pigmented choroidal schwannoma in the context of a PHTS. This rare tumor showed a unique combination of reduction of PTEN and absence of NF2 expression. [less ▲]

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See detailClinicopathologic presentations of dermatomycoses in cancer patients.
Quatresooz, Pascale ULg; Pierard, Claudine ULg; Arrese Estrada, Jorge ULg et al

in Journal of the European Academy of Dermatology & Venereology (2008)

Many of the skin fungal infections in cancer patients may look similar to those infections in non-cancer patients. However, in some cases, they become more extensive and even life threatening. Prolonged ... [more ▼]

Many of the skin fungal infections in cancer patients may look similar to those infections in non-cancer patients. However, in some cases, they become more extensive and even life threatening. Prolonged and severe neutropenia is the main risk factor for the dramatic issue of fungal infections. The dermatomycoses in cancer patients can be classified in four broad groups: primary superficial dermatophytoses, primary superficial yeast infections, opportunistic mold infections with distinct potential for dissemination and secondary cutaneous manifestations of fungaemia. Occasionally, more than one fungus are found inside a given skin lesion. A special condition is represented by the mycotic colonization of mucosal squamous cell carcinomas. Angio-invasion by fungi accounts for the frequency of disseminated infections prevailing in immunocompromised cancer patients. In case of skin involvement, the dermatologist may assist by recognizing subtle semiological signs and performing biopsies for swift histological examination, molecular biology and/or culture. [less ▲]

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