Results 61 to 70 of about 2,182,083 (430)

NeoRS: a neonatal resting state fMRI data preprocessing pipeline [PDF]

arXiv, 2022
Resting state fMRI (rsfMRI) has been shown to be a promising tool to study intrinsic functional connectivity and assess its integrity in cerebral development. In neonates, where fMRI is limited to few paradigms, rsfMRI was shown to be a relevant tool to explore regional interactions of brain networks.
arxiv  

Treatment for congenital toxoplasmosis: finding out what works [PDF]

, 2009
Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R
core   +3 more sources

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source

Neonatal Hearing Screening

, 2021
Around the world 10 million people have some type or degree of auditory problem, of them, between 200,000 and 400,000 have total deafness. Estimating that a large population presents this problem from birth (61%), with an incidence of 1 to 3 of every 1000 newborns.
Alejandra Itzel Contreras Rivas, Edgar Flores Molina, Gaston Eduardo Estudillo Jimenez, Patricio Guerra Ulloa   +3 more
openaire   +4 more sources

The risk stratification of adverse neonatal outcomes in women with gestational diabetes (STRONG) study [PDF]

, 2018
Aims: To assess the risk of adverse neonatal outcomes in women with gestational diabetes (GDM) by identifying subgroups of women at higher risk to recognize the characteristics most associated with an excess of risk. Methods: Observational, retrospective,
Abbruzzese, S, Affinito, L, Agus, S, Ansaldi, E, Baggi, V, Battezzati, M, Bertolotto, A, Berzi, D, Biase, Nd, Biglino, S, Bitterman, O, Bonomo, M, Bonomo, M, Bordon, P, Bordone, C, Bossi, A, Cannarsa, E, Cavuto, L, Cimino, E, Ciriello, E, Clementi, S, Coletta, I, Contini, P, Cordera, R, Corsi, L, Costa, S, Cristina, B, Dalfrà, M, Dalfrà, M, De Mori, V, Del Prete, A, Delucchi, M, Di Cianni, G, di Loreto, C, Dodesini, Ar, Dodesini, Ar, Dotta, F, Dozio, N, Falivene, Mr, Fallarino, M., Festa, C, Filardi, T, Fochesato, E, Fraticelli, F, Fresa, R, Fresa, R, Frusca, T, Grassi, A, Grimaldi, F, Grimaldi, L, Guarino, E, Haddoub, S, Imbergamo, Mp, Lacaria, E, Lalli, C, Lapolla, A, Lencioni, C, Lencioni, C, Leotta, S, Libera, E, Limone, P, Lisato, G, Lombardi, S, Lovati, E, Lucisano, G, Maggi, Daniela, Magotti, Mg, Marcone, T, Marcone, T, Masha, A, Meregalli, G, Michele, A, Milluzzo, A, Mion, E, Mollo, F, Monaci, F, Montani, V, Morano, S, Mori, M, Napoli, A, Nicolao, I, Nicolucci, A, Nuzzi, A, Oliverio, R, Pintaudi, B, Pintaudi, B, Pissarelli, A, Quarleri, L, Rancan, S, Ratto, L, Romanelli, T, Scarponi, M, Scavini, M, Sciacca, L, Sciacca, L, STRONG Study Collaborators., Collaborators Napoli A, Suprani, A, Tommasi, C, Tonutti, L, Torlone, E, Tumminia, A, Tumminia, A, Turazzi, D, Vero, R, Versari, G, Vita, Mg, Vitacolonna, E, Vitacolonna, E, Zambotti, F   +108 more
core   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Frontiers in Genetics, 2019
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene.
Yiming Lin, Hongzhi Gao, Chunmei Lin, Yanru Chen, Shuang Zhou, Weihua Lin, Zhenzhu Zheng, Xiaoqing Li, Min Li, Qingliu Fu   +9 more
doaj   +1 more source

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Scientific Reports, 2021
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SMOX could be a target for chemoprevention ...
João Fadista, Victor Yakimov, Urmo Võsa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tõnu Esko, Viktorija Kukuškina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra   +17 more
doaj   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Universal newborn hearing screening in the Lazio region, Italy [PDF]

, 2018
Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria, Conti, Guido, Frezza, Simonetta, Giannantonio, Sara, Greco, Antonio, Marsella, Pasquale, Orlando, Maria Patrizia, Picciotti, Pasqualina Maria, Ralli, Massimo, Russo, Francesca Yoshie, Scorpecci, Alessandro, Turchetta, Rosaria   +11 more
core   +1 more source