Výsledky vyhledávání - "Severe intrauterine growth retardation"

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

Autor: Naja Becher, Morten Alstrup, Jenny Blechingberg, Elsebet Ostergaard, Puk Sandager, Ida Vogel

Publikováno v: JIMD Reports, Vol 59, Iss 1, Pp 20-25 (2021)
Alstrup, M, Vogel, I, Sandager, P, Blechingberg, J, Becher, N & Østergaard, E 2021, ' A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses ', JIMD Reports, vol. 59, no. 1, pp. 20-25 . https://doi.org/10.1002/jmd2.12209
JIMD Reports

The C1QBP protein (complement component 1 Q subcomponent‐binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e030fc6286b578be6a088049a3a51696
https://doaj.org/article/3a27870e6e52468cb9e9eb302ca6ca16

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Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations

Autor: Shouta Inoue, Hisato Suzuki, Nobuhiko Okamoto, Katsuya Hirata, Kimihiko Banno, Toshiki Takenouchi, Kenjiro Kosaki, Chihiro Ichikawa, Masatoshi Nozaki

Publikováno v: American Journal of Medical Genetics Part A. 185:866-870

Infantile liver failure syndrome type 1 (ILFS1) is a recently recognized autosomal recessive disorder caused by deleterious mutations in the leucyl-tRNA synthetase 1 gene (LARS1). The LARS1 enzyme is responsible for incorporation of the amino acid le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e80209048e9fdc25751f63ab9a9c2c1b
https://doi.org/10.1002/ajmg.a.62012

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Embarazo en hemodiálisis crónica: experiencia de un hospital universitario

Autor: Luis Toro C, Ma. Eugenia Sanhueza V., Úrsula Fiedler Z.

Publikováno v: Revista médica de Chile v.147 n.6 2019
SciELO Chile
CONICYT Chile
instacron:CONICYT

Background: Pregnancies in women with end stage renal failure are uncommon. However, correction of anemia and improvement in dialysis techniques increases the rate of successful pregnancies. Aim: To describe a 16 years’ experience treating pregnant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c942c458e073235a2a0ea0db6cf00c7
https://doi.org/10.4067/s0034-98872019000600709

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Mosaic Variegated Aneuploidy Syndrome

Autor: Dongyou Liu

Publikováno v: Handbook of Tumor Syndromes ISBN: 9781351187435

Mosaic variegated aneuploidy syndrome (MVA syndrome) is an autosomal recessive disorder characterized by mosaic aneuploidies (predominantly trisomy/extra chromosome, and monosomy/missing chromosome), severe intrauterine growth retardation, microcepha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5850b44a1499d8f61fa9cdc1d20c1899
https://doi.org/10.1201/9781351187435-46

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Congenital diabetes mellitus

Autor: Fabrizio Barbetti, Alessia Piscopo, Francesca Casaburo, Angela Zanfardino, Riccardo Bonfanti, Ivana Rabbone, Dario Iafusco, Emanuele Miraglia del Giudice, Maria Francesca Gicchino, Gulsum Ozen, Nadia Tinto, Fernanda Iafusco, Serena Meola

Congenital diabetes mellitus is a rare disorder characterized by hyperglycemia that occurs shortly after birth. We define "Diabetes of Infancy" if hyperglycemia onset before 6 months of life. From the clinical point of view, we distinguish two main t

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Pregnancy after chemoradiotherapy in childhood: Complications and recommendations - about one case

Autor: Charles Garabedian, C. Decanter, H. Sudour, C. Verhaeghe, A. Escande, A. Grabarz, A-S. Defachelles, V. Debarge

Publikováno v: Journal of Gynecology Obstetrics and Human Reproduction. 50:101947

The question of pregnancy prognosis after radio chemotherapy is unaddressed. We report here the case of three successive spontaneous pregnancies 17 years after the management of a thigh rhabdomyosarcoma treated by radiochemotherapy. In 2018 the patie

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https://doi.org/10.1016/j.jogoh.2020.101947

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A novel 2q14.1q14.3 deletion involvingGLI2andRNU4ATACgenes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

Autor: Marie Biard, Philippe Vago, Hélène Laurichesse, Charles Rouzade, Andrei Tchirkov, Carole Goumy, Laetitia Gouas, Christine Francannet, Mathilde Gay-Bellile, Stephan Kemeny, Philippe Vanlieferinghen, Gaelle Salaun, Céline Pebrel-Richard, Eleonore Eymard-Pierre

Publikováno v: Birth Defects Research Part A: Clinical and Molecular Teratology. 106:793-797

Background Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (

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https://doi.org/10.1002/bdra.23535

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Insulin-like growth factors in embryonic and fetal growth and skeletal development (Review)

Autor: Georgios Agrogiannis, Anastasia E. Konstantinidou, Efstratios Patsouris, Stavros Sifakis

Publikováno v: Molecular Medicine Reports

The insulin-like growth factors (IGF)-I and -II have a predominant role in fetal growth and development. IGFs are involved in the proliferation, differentiation and apoptosis of fetal cells in vitro and the IGF serum concentration has been shown to b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8abab9c8681325cbd65cceac7adf1239
https://doi.org/10.3892/mmr.2014.2258

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PaternalGNASMutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

Autor: Arnaud Molin, Nicolas Richard, Harald Jüppner, Marie-Laure Kottler, Nadia Coudray, Pauline Rault-Guillaume

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 98:E1549-E1556

Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef053d512c1ff5a00532f73f76a704b
https://doi.org/10.1210/jc.2013-1667

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Diabète néonatal permanent par mutation récessive du gène de l’insuline : une observation familiale

Autor: Jean-Louis Stephan, S. Darteyre, O. Richard, H. Cavé, P. Pélissier, M. Di Benedetto

Publikováno v: Archives de Pédiatrie. 20:199-202

Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life and defined by chronic hyperglycemia due to severe nonautoimmune insulin deficiency. Nonsyndromic neonatal diabetes is genetically

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad97eb188a68130d498fe5ffeb1994d6
https://doi.org/10.1016/j.arcped.2012.11.009

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