Results 71 to 80 of about 312,879 (216)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Birth weight rather than birth length is associated with childhood behavioural problems in a Czech ELSPAC cohort. [PDF]

PLoS One, 2021
Ráčková L, Kuruczová D, Jarkovský J, Bienertová-Vašků J.   +3 more
europepmc   +1 more source

Anthropometrics of neonates born to mothers with PCOS with metformin or placebo exposure in utero

Acta Obstetricia et Gynecologica Scandinavica
Introduction Fetal growth may be affected by both maternal polycystic ovary syndrome (PCOS) and metformin therapy. Here, we explore the effect of intrauterine metformin exposure on birth anthropometrics of infants born to women with PCOS.
Guro Ørndal Nilsen, Melanie Rae Simpson, Liv Guro Engen Hanem, Tone Shetelig Løvvik, Rønnaug Ødegård, Live Marie T. Stokkeland, Marianne Skovsager Andersen, Petur Benedikt Juliusson, Eszter Vanky   +8 more
doaj   +1 more source

Prenatal paraben exposure and neonatal birth outcomes: The modifying role of mid‑to‑late pregnancy weight gain rate

Ecotoxicology and Environmental Safety
Parabens are ubiquitous endocrine-disrupting chemicals. However, the effects of paraben mixtures on neonatal growth and the modifying role of post‑blood‑collection gestational weight gain rate (GWG_after) remain unclear.
Yueyi Lv, Mengjun Chang, Xianjia Li, Ye Li, Jin Ji, Lingling Zhang, Rui Zhang, Yunyun Du, Xi Shi, Shuqin Ma, Can Liu, Suzhen Guan   +11 more
doaj   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Impact of maternal dietary carbohydrate intake and vitamin D-related genetic risk score on birth length: the Vitamin D Pregnant Mother (VDPM) cohort study. [PDF]

BMC Pregnancy Childbirth, 2022
Aji AS, Lipoeto NI, Yusrawati Y, Malik SG, Kusmayanti NA, Susanto I, Nurunniyah S, Alfiana RD, Wahyuningsih W, Majidah NM, Vimaleswaran KS.   +10 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Relationship between Serum Umbilical Cord and Maternal Leptin and Adiponectin Concentrations with Fetal Growth Parameters [PDF]

Iranian Journal of Public Health, 2007
Background: Pregnancy and accelerated fetal growth always are related with major metabolic changes and body fat redistribution and adiponectin is one of principle adipocyte hormones, so studying adiponectin changes during pregnancy may reveal some hidden
F Zare, A Moradizirkohi, Zh Maghbooli, A Hossein-nezhad, K omidfar, M Rahmani, B Larijani   +6 more
doaj   +2 more sources

Birth length is the strongest predictor of linear growth status and stunting in the first 2 years of life after a preconception maternal nutrition intervention: the children of the Women First trial. [PDF]

Am J Clin Nutr, 2022
Krebs NF, Hambidge KM, Westcott JL, Garcés AL, Figueroa L, Tshefu AK, Lokangaka AL, Goudar SS, Dhaded SM, Saleem S, Ali SA, Bauserman MS, Derman RJ, Goldenberg RL, Das A, Chowdhury D, Women First Preconception Maternal Nutrition Study Group.   +16 more
europepmc   +1 more source