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102 results on '"Piccoli, Giorgina"'

7. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Author

Billon, Clarisse, Piccoli, Giorgina Barbara, de Sainte Agathe, Jean-Madeleine, Stoeva, Radka, Derive, Nicolas, Heidet, Laurence, Berrebi, Dominique, Bruneval, Patrick, Jeunemaitre, Xavier, and Hureaux, Marguerite

Abstract

Megacystis-microcolon-hypoperistalsis-syndrome (MMIHS) is a rare and early-onset congenital disease characterized by massive abdominal distension due to a large non-obstructive bladder, a microcolon and decreased or absent intestinal peristalsis. While in most cases inheritance is autosomal dominant and associated with heterozygous variant in ACTG2 gene, an autosomal recessive transmission has also been described including pathogenic bialellic loss-of-function variants in MYH11. We report here a novel family with visceral myopathy related to MYH11 gene, confirmed by whole genome sequencing (WGS). WGS was performed in two siblings with unusual presentation of MMIHS and their two healthy parents. The 38 years-old brother had severe bladder dysfunction and intestinal obstruction, whereas the 30 years-old sister suffered from end-stage kidney disease with neurogenic bladder and recurrent sigmoid volvulus. WGS was completed by retrospective digestive pathological analyses. Compound heterozygous variants of MYH11 gene were identified, associating a deletion of 1.2 Mb encompassing MYH11 inherited from the father and an in-frame variant c.2578_2580del, p.Glu860del inherited from the mother. Pathology analyses of the colon and the rectum revealed structural changes which significance of which is discussed. Cardiac and vascular assessment of the mother was normal. This is the second report of a visceral myopathy corresponding to late-onset form of MMIHS related to compound heterozygosity in MYH11; with complete gene deletion and a hypomorphic allele in trans. The hypomorphic allele harbored by the mother raised the question of the risk of aortic disease in adults. This case shows the interest of WGS in deciphering complex phenotypes, allowing adapted diagnosis and genetic counselling. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Chronic kidney disease, female infertility, and medically assisted reproduction: a best practice position statement by the Kidney and Pregnancy Group of the Italian Society of Nephrology.

Author

Attini, Rossella, Cabiddu, Gianfranca, Ciabatti, Francesca, Montersino, Benedetta, Carosso, Andrea Roberto, Gernone, Giuseppe, Gammaro, Linda, Moroni, Gabriella, Torreggiani, Massimo, Masturzo, Bianca, Santoro, Domenico, Revelli, Alberto, and Piccoli, Giorgina Barbara

Published
2023
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17. What a paediatric nephrologist should know about preeclampsia and why it matters.

Author

Piccoli, Giorgina Barbara, Torreggiani, Massimo, Crochette, Romain, Cabiddu, Gianfranca, Masturzo, Bianca, Attini, Rossella, and Versino, Elisabetta

Subjects
*CARDIOVASCULAR disease prevention, *HYPERTENSION risk factors, *RISK factors of preeclampsia, *PREECLAMPSIA prevention, *KIDNEY disease prevention, *CHRONIC kidney failure, *PROFESSIONS, *PREMATURE infants, *PREECLAMPSIA, *PREGNANCY complications, *TEENAGE pregnancy, *PROTEINURIA, *DISEASE risk factors, *DISEASE complications
Abstract

Preeclampsia is a protean syndrome causing a kidney disease characterised by hypertension and proteinuria, usually considered transitory and reversible after delivery. Its prevalence ranges from 3–5 to 10% if all the related disorders are considered. This narrative review, on behalf of the Kidney and Pregnancy Study Group of the Italian Society of Nephrology, focuses on three reasons why preeclampsia should concern paediatric nephrologists and how they can play an important role in its prevention, as well as in the prevention of future kidney and cardiovascular diseases. Firstly, all diseases of the kidney and urinary tract diagnosed in paediatric age are associated with a higher risk of adverse pregnancy-related outcomes, including preeclampsia. Secondly, babies with low birth weights (small for gestational age, born preterm, or both) have an increased risk of developing the full panoply of metabolic diseases (obesity, hypertension, early-onset cardiopathy and chronic kidney disease) and girls are at higher risk of developing preeclampsia when pregnant. The risk may be particularly high in cases of maternal preeclampsia, highlighting a familial aggregation of this condition. Thirdly, pregnant teenagers have a higher risk of developing preeclampsia and the hypertensive disorders of pregnancy, and should be followed up as high risk pregnancies. In summary, preeclampsia has come to be seen as a window on the future health of both mother and baby. Identification of subjects at risk, early counselling and careful follow-up can contribute to reducing the high morbidity linked with this disorder. [ABSTRACT FROM AUTHOR]

Published
2022
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18. Correction to: Chronic kidney disease, female infertility, and medically assisted reproduction: a best practice position statement by the Kidney and Pregnancy Group of the Italian Society of Nephrology.

Author

Attini, Rossella, Cabiddu, Gianfranca, Ciabatti, Francesca, Montersino, Benedetta, Carosso, Andrea Roberto, Gernone, Giuseppe, Gammaro, Linda, Moroni, Gabriella, Torreggiani, Massimo, Masturzo, Bianca, Santoro, Domenico, Revelli, Alberto, and Piccoli, Giorgina Barbara

Published
2024
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35. Nutrition care for chronic kidney disease during pregnancy: an updated review.

Author

Reyes-López, María Angélica, Piccoli, Giorgina B, Leone, Filomena, Orozco-Guillén, Alejandra, and Perichart-Perera, Otilia

Abstract

Cases of chronic kidney disease (CKD), including CKD in pregnant women, have increased globally in recent years. CKD during pregnancy is associated with a higher risk of adverse outcomes, including gestational hypertension, preeclampsia, intrauterine growth restriction, and preterm birth, among others. Nutrition plays a significant role in many metabolic and physiological changes during pregnancy. Women with CKD are at increased risk of nutrition deficiencies and metabolic issues than women without CKD. Currently, we lack evidence regarding metabolic and nutritional adaptations during pregnancy in women with CKD and how these adaptations relate to perinatal outcomes. In this review, dietary and supplementation recommendations for CKD in adults and pregnant women are summarized from current clinical guidelines. We present the main nutrition care practices that have been studied in CKD pregnancies. This review will be helpful to health professionals as a preliminary reference for nutrition assessment and therapy in pregnant women with CKD. [ABSTRACT FROM AUTHOR]

Published
2020
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46. The pathogenesis of pre-eclampsia in kidney donors.

Author

Piccoli, Giorgina Barbara and Orozco-Guillén, Oralia Alejandra

Subjects
*PREECLAMPSIA, *CHRONIC kidney failure, *KIDNEYS, *PATHOGENESIS, *ECLAMPSIA
Abstract

Kidney donation and chronic kidney disease are associated with an increased risk of pre-eclampsia. A recent study in pregnant uninephrectomized mice provides new insights into the mechanisms that underlie these associations and potential therapeutic strategies. [ABSTRACT FROM AUTHOR]

Published
2023
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49. A best-practice position statement on pregnancy after kidney transplantation: focusing on the unsolved questions. The Kidney and Pregnancy Study Group of the Italian Society of Nephrology.

Author

Cabiddu, Gianfranca, Spotti, Donatella, Gernone, Giuseppe, Santoro, Domenico, Moroni, Gabriella, Gregorini, Gina, Giacchino, Franca, Attini, Rossella, Limardo, Monica, Gammaro, Linda, Todros, Tullia, Piccoli, Giorgina Barbara, and The Kidney and Pregnancy Study Group of the Italian Society of Nephrology

Published
2018
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