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Journal Article
Yu, J., G. Walther, A. D. Van Diepeningen, A. H. G. G. van den Ende, R. - Y. Li, T. A. A. Moussa, O. A. Almaghrabi, and G. S. de Hoog, "DNA barcoding of clinically relevant Cunninghamella species", Medical mycology, vol. 53, no. 2: Oxford University Press, pp. 99–106, 2015. Abstractmed_mycol-2015-yu-99-106.pdf

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Vivante, A., O. S. Chacham, S. Shril, R. Schreiber, S. M. Mane, B. Pode-Shakked, N. A. Soliman, I. Koneth, M. Schiffer, Y. Anikster, et al., "Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.", Pediatric nephrology (Berlin, Germany), vol. 34, issue 9, pp. 1607-1613, 2019. Abstract

BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Recently, a causative role for PAX2 was reported in adult-onset nephrotic syndrome secondary to focal segmental glomerulosclerosis (FSGS). However, the prevalence of PAX2 mutations among large cohort of children with steroid-resistant nephrotic syndrome (SRNS) and FSGS has not been systematically studied.

METHODS: We employed whole-exome sequencing (WES) to identify the percentage of SRNS cases explained by monogenic mutations in known genes of SRNS/FSGS. As PAX2 mutations are not an established cause of childhood FSGS, we evaluated a cohort of 215 unrelated families with SRNS, in whom no underlying genetic etiology had been previously established.

RESULTS: Using WES, we identified 3 novel causative heterozygous PAX2 mutations in 3 out of the 215 unrelated index cases studied (1.3%). All three cases were detected in individuals from families with more than one affected and compatible with an autosomal dominant mode of inheritance (3/57 familial cases studied (5.2%)). The clinical diagnosis in three out of four pediatric index patients was done during routine medical evaluation.

CONCLUSIONS: Our findings demonstrate high frequency of PAX2 mutations in familial form of SRNS (5.2%) and further expand the phenotypic spectrum of PAX2 heterozygous mutations to include autosomal dominant childhood-onset FSGS. These results highlight the importance of including PAX2 in the list of genes known to cause FSGS in children.

CHEN, D. - Y., C. S. LAU, B. E. Zorkany, P. - N. HSU, S. PRAPROTNIK, R. VASILESCU, L. MARSHALL, and L. LLAMADO, Dosing down and then discontinuing biologic therapy in rheumatoid arthritis: a review of the literature, , 2017. dosing_down_and_then_discontinuing_biologic_therapy_in.pdf
Sota, J., D. Rigante, R. Cimaz, M. Cattalini, M. Frassi, R. Manna, L. L. Sicignano, E. Verrecchia, E. Aragona, and M. C. Maggio, "Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry", Rheumatology, 2021. Abstract
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Sota, J., D. Rigante, R. Cimaz, M. Cattalini, M. Frassi, R. Manna, L. L. Sicignano, E. Verrecchia, E. Aragona, M. C. Maggio, et al., "Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: Observational study from the International AIDA Registry", Rheumatology (United Kingdom), vol. 60, issue 12: Oxford University Press, pp. 5705 - 5712, 2021. AbstractWebsite
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de Joode, K., D. W. Dumoulin, J. Tol, H. M. Westgeest, L. V. Beerepoot, F. W. P. J. van den Berkmortel, P. G. N. J. Mutsaers, N. G. J. van Diemen, O. J. Visser, E. Oomen-de Hoop, et al., "Dutch Oncology COVID-19 consortium: Outcome of COVID-19 in patients with cancer in a nationwide cohort study.", European journal of cancer (Oxford, England : 1990), vol. 141, pp. 171-184, 2020. Abstract

AIM OF THE STUDY: Patients with cancer might have an increased risk for severe outcome of coronavirus disease 2019 (COVID-19). To identify risk factors associated with a worse outcome of COVID-19, a nationwide registry was developed for patients with cancer and COVID-19.

METHODS: This observational cohort study has been designed as a quality of care registry and is executed by the Dutch Oncology COVID-19 Consortium (DOCC), a nationwide collaboration of oncology physicians in the Netherlands. A questionnaire has been developed to collect pseudonymised patient data on patients' characteristics, cancer diagnosis and treatment. All patients with COVID-19 and a cancer diagnosis or treatment in the past 5 years are eligible.

RESULTS: Between March 27th and May 4th, 442 patients were registered. For this first analysis, 351 patients were included of whom 114 patients died. In multivariable analyses, age ≥65 years (p < 0.001), male gender (p = 0.035), prior or other malignancy (p = 0.045) and active diagnosis of haematological malignancy (p = 0.046) or lung cancer (p = 0.003) were independent risk factors for a fatal outcome of COVID-19. In a subgroup analysis of patients with active malignancy, the risk for a fatal outcome was mainly determined by tumour type (haematological malignancy or lung cancer) and age (≥65 years).

CONCLUSION: The findings in this registry indicate that patients with a haematological malignancy or lung cancer have an increased risk of a worse outcome of COVID-19. During the ongoing COVID-19 pandemic, these vulnerable patients should avoid exposure to severe acute respiratory syndrome coronavirus 2, whereas treatment adjustments and prioritising vaccination, when available, should also be considered.

Abdelhalim, H., K. Z. Abdalla, U. Zaher, and P. Vanrolleghem, "DYNAMIC MODELING OF THE ACTIVATED SLUDGE PROCESS FOR REAL TIME MONITORING AND CONTROL", Water Intelligence Online , 2004.
Harith, M. A., V. Palleschi, A. Salvetti, D. P. Singh, M. Vaselli, G. V. Dreiden, Y. I. Ostrovsky, and I. V. Semenova, "Dynamics of laser-driven shock waves in water", Journal of applied physics, vol. 66, no. 11: AIP Publishing, pp. 5194–5197, 1989. Abstract
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Vartoukian, S. R., W. M. Tilakaratne, N. Seoudi, M. Bombardieri, L. Bergmeier, A. R. Tappuni, and F. Fortune, "Dysregulation of the suppressor of cytokine signalling 3-signal transducer and activator of transcription-3 pathway in the aetiopathogenesis of Sjögren's syndrome.", Clinical and experimental immunology, vol. 177, issue 3, pp. 618-29, 2014 Sep. Abstract

The suppressor of cytokine signalling 3 (SOCS3) negatively regulates the Janus kinase (JAK)/signal transducer and activator of transcription-3 (STAT-3)/interleukin (IL)-17 pathway. The proinflammatory cytokine IL-17 is over-expressed in Sjögren's syndrome (SS) and is a key factor in its pathogenesis. We hypothesized that IL-17 over-expression in SS results from ineffective regulation by SOCS3. The expression of SOCS3 was analysed in peripheral blood mononuclear cells (PBMC) from SS cases, sicca controls (SC) and healthy controls (HC) and tissue samples from SS, SC and healthy salivary glands (HSG). PBMC and salivary gland tissue from SS and controls were dual-immunostained for SOCS3 and IL-17. IL-6-stimulated PBMC from SS and controls were evaluated for time-dependent STAT-3 activation and SOCS3 induction, and for IL-17 expression. Immunoblotting revealed greater levels of SOCS3 in PBMC from SS than SC (P = 0·017) or HC (P < 0·001). Similarly, the proportion of salivary-gland tissue cells staining for SOCS3 was significantly higher in SS than SC (P = 0·029) or HSG (P = 0·021). The cells in PBMC/salivary gland samples from controls predominantly expressed either SOCS3 or IL-17. However, there was a high frequency of SOCS3/IL-17 co-expression within cells of SS samples. IL-6-stimulation of PBMC from SS cases revealed prolonged activation of STAT-3 with reduced negative regulation by SOCS3, and enhanced expression of IL-17. This study showed that SOCS3 expression is up-regulated in SS. However, the absence in SS of the normal inverse relationship between SOCS3 and pSTAT-3/IL-17 indicates a functional disturbance in this signalling cascade. Consequently, a reduction in function, rather than a reduction in expression of SOCS3 accounts for the unregulated expression of IL-17 in SS, and may play a crucial role in aetiopathogenesis.

Badr, G., N. Bédard, M. S. Abdel-Hakeem, L. Trautmann, B. Willems, J. - P. Villeneuve, E. K. Haddad, R. P. Sékaly, J. Bruneau, and N. H. Shoukry, "Early Interferon Therapy for Hepatitis C Virus Infection Rescues Polyfunctional, Long-Lived CD8! Memory T Cells", JOURNAL OF VIROLOGY, vol. 82, issue 20, pp. 10017–10031, 2008. AbstractWebsite

The majority of acute hepatitis C virus (HCV) infections progress to chronicity and progressive liver damage.
Alpha interferon (IFN-!) antiviral therapy achieves the highest rate of success when IFN-! is administered
early during the acute phase, but the underlying mechanisms are unknown. We used a panel of major
histocompatibility complex class I tetramers to monitor the phenotypic and functional signatures of HCVspecific
T cells during acute HCV infection with different infection outcomes and during early IFN therapy. We
demonstrate that spontaneous resolution correlates with the early development of polyfunctional (IFN-"- and
IL-2-producing and CD107a#) virus-specific CD8# T cells. These polyfunctional T cells are distinguished by
the expression of CD127 and Bcl-2 and represent a transitional memory T-cell subset that exhibits the
phenotypic and functional signatures of both central and effector memory T cells. In contrast, HCV-specific
CD8# T cells in acute infections evolving to chronicity expressed low levels of CD127 and Bcl-2, exhibited
diminished proliferation and cytokine production, and eventually disappeared from the periphery. Early
therapeutic intervention with pegylated IFN-! rescued polyfunctional memory T cells expressing high levels of
CD127 and Bcl-2. These cells were detectable for up to 1 year following discontinuation of therapy. Our results
suggest that the polyfunctionality of HCV-specific T cells can be predictive of the outcome of acute HCV
infection and that early therapeutic intervention can reconstitute the pool of long-lived polyfunctional memory
T cells.

Akowuah, E., R. A. Benson, E. J. Caruana, G. Chetty, J. Edwards, S. Forlani, G. Gradinariu, G. J. Murphy, A. Y. Oo, A. J. Patel, et al., "Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study", The Journal of Thoracic and Cardiovascular SurgeryThe Journal of Thoracic and Cardiovascular Surgery, vol. 162, issue 2: Elsevier, pp. e355 - e372, 2021. AbstractWebsite
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Rickard, J., R. Tedford, M. Niebauer, M. Bassiouny, D. Spragg, B. Baranowski, B. Wilkoff, and N. Varma, "ECHOCARDIOGRAPHIC PREDICTORS OF LONG TERM OUTCOMES IN PATIENTS UNDERGOING CARDIAC RESYNCHRONIZATION THERAPY: WHAT IS THE OPTIMAL METRIC?", Journal of the American College of Cardiology, vol. 65, no. 10\_S: Journal of the American College of Cardiology, 2015. Abstract
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Vargas-Bello-Pérez, E., A. Elolimy, and A. M. Abdelatty, "Editorial: Nutrigenomics: omics of maternal nutrition and foetal programming.", Frontiers in genetics, vol. 15, pp. 1327341, 2024.
Safaa, H. M., X. Arbe, M. P. Serrano, D. G. Valencia, and G. G. Mateos, "Efecto del nivel de metionina, ácido linoleico y grasa añadida a la dieta", Albéitar, vol. 117, no. Julio/Agosto: Albéitar, España, pp. 54–57, 2008. Abstract
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Safaa, H. M., X. Arbe, M. P. Serrano, D. G. Valencia, and G. G. Mateos, "Efecto del nivel de metionina, ácido linoleico y grasa añadida a la dieta: productividad y calidad del huevo", Albéitar: publicación veterinaria independiente, no. 117: Grupo Asis, pp. 54–57, 2008. Abstract
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Safaa, H. M., X. Arbe, M. P. Serrano, D. G. Valencia, and G. G. Mateos, "Efecto del nivel de metionina, ácido linoleico y grasa añadida a la dieta: productividad y calidad del huevo", Albéitar: publicación veterinaria independiente, no. 117: Grupo Asis, pp. 54–57, 2008. Abstract
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Glasbey, J., A. Ademuyiwa, A. Adisa, E. Alameer, A. P. Arnaud, F. Ayasra, J. Azevedo, A. Minaya-Bravo, A. Costas-Chavarri, J. Edwards, et al., "Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study", The Lancet OncologyThe Lancet Oncology, vol. 22, issue 11: Elsevier, pp. 1507 - 1517, 2021. AbstractWebsite
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RADWAN, A., N. Ashton, T. Gates, A. Kilmer, and M. VanFleet, "Effect of different pillow designs on promoting sleep comfort, quality, & spinal alignment: A systematic review", European Journal of Integrative Medicine, vol. 42: Urban & Fischer, pp. 101269, 2021. Abstract
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Viudes-de-Castro, M. P., R. Lavara, H. M. Safaa, F. Marco-Jiménez, G. M. K. Mehaisen, and J. S. Vicente, "Effect of freezing extender composition and male line on semen traits and reproductive performance in rabbits", Animal, issue In Press, pp. 1-6, 2014.
Viudes-de-Castro, M. P., R. Lavara, H. M. Safaa, F. Marco-Jiménez, G. M. K. Mehaisen, and J. S. Vicente, "Effect of freezing extender composition and male line on semen traits and reproductive performance in rabbits", animal, vol. 8, no. 05: Cambridge University Press, pp. 765–770, 2014. Abstract
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Viudes-de-Castro, M. P., R. Lavara, H. M. Safaa, F. Marco-Jiménez, G. M. K. Mehaisen, and J. S. Vicente, "Effect of freezing extender composition and male line on semen traits and reproductive performance in rabbits", animal, vol. 8, no. 05: Cambridge University Press, pp. 765–770, 2014. Abstract
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Viudes-de-Castro, M. P., R. Lavara, H. M. Safaa, F. Marco-Jiménez, G. M. K. Mehaisen, and J. S. Vicente, "Effect of freezing extender composition and male line on semen traits and reproductive performance in rabbits", animal, vol. 8, no. 05: Cambridge University Press, pp. 765–770, 2014. Abstract
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Safaa, H. M., E. Jiménez-Moreno, D. G. Valencia, M. Frikha, M. P. Serrano, and G. G. Mateos, "Effect of main cereal of the diet and particle size of the cereal on productive performance and egg quality of brown egg-laying hens in early phase of production", Poultry science, vol. 88, no. 3: Oxford University Press, pp. 608–614, 2009. Abstract
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Marei, W. F., M. A. Alvarez, V. Van Hoeck, A. Gutierrez-Adan, P. E. Bols, and J. L. Leroy, "Effect of nutritionally induced hyperlipidaemia on in vitro bovine embryo quality depends on the type of major fatty acid in the diet", Reprod Fertil Dev, Nov 11, 2016. AbstractWebsite

The present study examined whether the effects of dietary-induced hyperlipidaemia on preimplantation embryo development depend on the predominant fatty acid (FA) type in the diet. In a combined in vivo-in vitro bovine model, two groups of cows (n=3 in each group) were fed with three diets consecutively (4 weeks feeding for each): (1) a maintenance control diet (CONT); (2) a high-starch diet rich in saturated fat (SAT); and (3) a high-starch diet rich in omega-3 unsaturated fat (UNSAT). Two feeding sequences were used to test for carry-over effects: Group A was fed CONT, SAT1 and then UNSAT2, whereas Group B was fed CONT, UNSAT1 and then SAT2. Serum was collected after each dietary period, analysed and tested in bovine in vitro embryo culture. Introducing SAT and UNSAT diets induced hyperlipidaemia (specifically hypercholesterolaemia and elevated free FAs) and reduced insulin sensitivity. Carry-over effects in serum metabolites and FA profile were dependent on the diet and feeding sequence. SAT1 and SAT2 serum decreased blastocyst rates and altered blastocyst mRNA expression related to apoptosis and oxidative stress. UNSAT1 and UNSAT2 serum resulted in normal embryo development and quality. Other in vitro effects depended on the sequence of feeding. In conclusion, substitution of saturated fat with omega-3 fat in a high-caloric diet induced hyperlipidaemia with an FA profile yielding similar rates and quality of blastocysts compared with normolipidaemic controls.

Marei, W. F. A., M. A. Alvarez, V. Van Hoeck, A. Gutierrez-Adan, P. E. J. Bols, and J. L. M. R. Leroy, "Effect of nutritionally induced hyperlipidaemia on in vitro bovine embryo quality depends on the type of major fatty acid in the diet.", Reproduction, fertility, and development, 2016 Nov 11. Abstract

The present study examined whether the effects of dietary-induced hyperlipidaemia on preimplantation embryo development depend on the predominant fatty acid (FA) type in the diet. In a combined in vivo-in vitro bovine model, two groups of cows (n=3 in each group) were fed with three diets consecutively (4 weeks feeding for each): (1) a maintenance control diet (CONT); (2) a high-starch diet rich in saturated fat (SAT); and (3) a high-starch diet rich in omega-3 unsaturated fat (UNSAT). Two feeding sequences were used to test for carry-over effects: Group A was fed CONT, SAT1 and then UNSAT2, whereas Group B was fed CONT, UNSAT1 and then SAT2. Serum was collected after each dietary period, analysed and tested in bovine in vitro embryo culture. Introducing SAT and UNSAT diets induced hyperlipidaemia (specifically hypercholesterolaemia and elevated free FAs) and reduced insulin sensitivity. Carry-over effects in serum metabolites and FA profile were dependent on the diet and feeding sequence. SAT1 and SAT2 serum decreased blastocyst rates and altered blastocyst mRNA expression related to apoptosis and oxidative stress. UNSAT1 and UNSAT2 serum resulted in normal embryo development and quality. Other in vitro effects depended on the sequence of feeding. In conclusion, substitution of saturated fat with omega-3 fat in a high-caloric diet induced hyperlipidaemia with an FA profile yielding similar rates and quality of blastocysts compared with normolipidaemic controls.