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229 results on '"Biassoni, L."'

3. Assessing bone mineralisation in children with chronic kidney disease: what clinical and research tools are available?

Author

Lalayiannis, A.D., Crabtree, N.J., Fewtrell, M., Biassoni, L., Milford, D.V., Ferro, C.J., and Shroff, R.

Subjects
Children -- Diseases, Chronic kidney failure -- Diagnosis -- Development and progression, Bones -- Density, Health
Abstract

Mineral and bone disorder in chronic kidney disease (CKD-MBD) is a triad of biochemical imbalances of calcium, phosphate, parathyroid hormone and vitamin D, bone abnormalities and soft tissue calcification. Maintaining optimal bone health in children with CKD is important to prevent long-term complications, such as fractures, to optimise growth and possibly also to prevent extra-osseous calcification, especially vascular calcification. In this review, we discuss normal bone mineralisation, the pathophysiology of dysregulated homeostasis leading to mineralisation defects in CKD and its clinical consequences. Bone mineralisation is best assessed on bone histology and histomorphometry, but given the rarity with which this is performed, we present an overview of the tools available to clinicians to assess bone mineral density, including serum biomarkers and imaging such as dual-energy X-ray absorptiometry and peripheral quantitative computed tomography. We discuss key studies that have used these techniques, their advantages and disadvantages in childhood CKD and their relationship to biomarkers and bone histomorphometry. Finally, we present recommendations from relevant guidelines-Kidney Disease Improving Global Outcomes and the International Society of Clinical Densitometry-on the use of imaging, biomarkers and bone biopsy in assessing bone mineral density. Given low-level evidence from most paediatric studies, bone imaging and histology remain largely research tools, and current clinical management is guided by serum calcium, phosphate, PTH, vitamin D and alkaline phosphatase levels only., Author(s): A.D. Lalayiannis [sup.1] , N.J. Crabtree [sup.2] , M. Fewtrell [sup.1] , L. Biassoni [sup.1] , D.V. Milford [sup.2] , C.J. Ferro [sup.3] , R. Shroff [sup.1] Author Affiliations: [...]

Published
2020
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6. Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

Author

Reid, K.M., Steel, D., Nair, S., Bhate, S., Biassoni, L., Sudhakar, S., Heys, M., Burke, E., Kamsteeg, E.J., Hameed, B., Zech, M., Mencacci, N.E., Barwick, K., Topf, M., and Kurian, Manju A.

Subjects
All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Abstract

Contains fulltext : 291875.pdf (Publisher’s version ) (Open Access) The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal. Triome whole-genome sequencing revealed a homozygous variant (c.110C>A, (p.T37K)) in DRD1, encoding the most abundant dopamine receptor (D(1)) in the central nervous system, most highly expressed in the striatum. This variant was absent from gnomAD, with a CADD score of 27.5. Using an in vitro heterologous expression system, we determined that DRD1-T37K results in loss of protein function. Structure-function modelling studies predicted reduced substrate binding, which was confirmed in vitro. Exposure of mutant protein to the selective D(1) agonist Chloro APB resulted in significantly reduced cyclic AMP levels. Numerous D(1) agonists failed to rescue the cellular defect, reflected clinically in the patient, who had no benefit from dopaminergic therapy. Our study identifies DRD1 as a new disease-associated gene, suggesting a crucial role for the D(1) receptor in motor control.

Published
2023

10. The presence of vesicoureteric reflux does not identify a population at risk for renal scarring following a first urinary tract infection

Author

Moorthy, I., Easty, M., McHugh, K., Ridout, D., Biassoni, L., and Gordon, I.

Subjects
Renal manifestations of general diseases -- Health aspects, Urinary tract infections -- Health aspects, Bladder diseases -- Care and treatment, Urinary tract infections in children -- Care and treatment, Children -- Diseases, Children -- Care and treatment
Published
2005

33. Evaluation of the Sunlight Omnisense quantitative ultrasound machine in children

Author

Williams, J.E., Fewtrell, M.S., Lee, P.J., Jaffe, A., and Biassoni, L.

Subjects
Ultrasonic waves -- Health aspects -- Research, Daylight -- Health aspects -- Research, Sunshine -- Health aspects -- Research, Children -- Health aspects -- Research, Bones -- Growth, Family and marriage, Health, Research, Health aspects
Abstract

Measurement of bone mass in children is performed for both clinical and research purposes, generally using bone densitometry. Quantitative ultrasound (QUS) predicts fracture risk in adults and has the advantage [...]

Published
2004

35. The immunolocalization of PGP 9.5 in normal human kidney and renal cell carcinoma

Author

D Andrea, V., Malinovsky, L., Berni, A., Biancari, F., Biassoni, L., Filippo Maria DI MATTEO, Corbellini, L., Falvo, L., Santoni, F., Spyrou, M., and Antoni, E.

Subjects
Male, Humans, Thiolester Hydrolases, Kidney, Carcinoma, Renal Cell, Ubiquitin Thiolesterase, Kidney Neoplasms, Neoplasm Proteins
Abstract

The Authors studied the localization of protein gene product (PGP) 9.5-like immunoreactivity in normal human kidney tissue and compared the results with the same immunostaining in renal cell carcinoma. PGP 9.5-like immunoreactivity was found in cells of distal convoluted tubules and in some glomerular capillaries. The cells of proximal convoluted tubules did not show any immunostaining. Sections from renal cell carcinoma showed a very low immunostaining or were negative for PGP 9.5. As PGP 9.5 is a marker of the diffuse endocrine system, the Authors believe that the stained cells of distal tubules should be considered as neuroendocrine cells. The negative reaction to PGP 9.5 antibodies in renal cell carcinoma is rather surprising since not only tumours of neuroectodermal origin, but also tumours of other origin and tissues from some chronic degenerative diseases show a positive reaction. The explication of a negative reaction in renal cell carcinoma remains open: one of the possible explanations could be the specific histogenesis of this tumour.

Published
1997

41. Thymomas: a review

Author

D'Andrea, Vito, Ambrogi, V., Biassoni, L., Horvath, F., and DE ANTONI, Enrico

Published
1992

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