Results 91 to 100 of about 1,348,248 (398)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Knowledge Summary 22: Reaching Child Brides [PDF]

, 2012
Child marriage affects 10 million girls under the age of 18 every year. The negative health and social impact of child marriage include higher rates of maternal and infant mortality, sexually transmitted infection, social separation, and domestic abuse
Partnership for Maternal, Newborn and Child Health
core  

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A mechanistic first--passage time framework for bacterial cell-division timing

, 2015
How exponentially growing cells maintain size homeostasis is an important fundamental problem. Recent single-cell studies in prokaryotes have uncovered the adder principle, where cells on average, add a fixed size (volume) from birth to division ...
Ghusinga, Khem Raj, Singh, Abhyudai, Vargas-Garcia, Cesar A.   +2 more
core   +1 more source

Health System Support for Childbirth care in Southern Tanzania: Results from a Health Facility Census. [PDF]

, 2013
Progress towards reaching Millennium Development Goals four (child health) and five (maternal health) is lagging behind, particularly in sub-Saharan Africa, despite increasing efforts to scale up high impact interventions.
A Jahn, A Nyamtema, A Nyamtema, A Pembe, AMDD, B Moller, BL Sorensen, C Kurowski, C McCord, C Pereira, C Ronsmans, Carine Ronsmans, Claudia Hanson, D Elbourne, D Urassa, D Urassa, F Manzi, F Manzi, Fatuma Manzi, G Bosse, G Mbaruku, Godfrey Mbaruku, H Kidanto, Hassan Mshinda, I Sorbye, J Armstrong Schellenberg, Jenny Jaribu, JK Rajaratnam, Joanna Schellenberg, JRMA Schellenberg, K Gross, K Makowiecka, L Gilson, M Kayongo, M Kruk, M Mrisho, M Sarker, Marcel Tanner, ME Kruk, ME Kruk, ME Kruk, Ministry of Health & Civil Service Department Tanzania, Ministry of Health (RCHS/NMCP), JHPIEGO, Ministry of Health and Social Welfare, Ministry of Health and Social Welfare, Ministry of Health-RCHS, GTZ, MY Yakoob, National Bureau of Statistics (NBS) Tanzania, ICF Macro, National Bureau of Statistics (NBS) Tanzania, Macro International Inc, OE Olsen, OM Campbell, R Pattinson, RE Black, S Cousens, S Penfold, S Scott, Stata Statistical Software, Suzanne Penfold, United Republic of Tanzania, Ministry of Health - Reproductive and Child Health Section, Werner Maokola, WHO, WHO, WHO, WHO, WHO, UNFPA, UNICEF, AMMD, WHO, UNFPA, UNICEF, The World Bank Group, WHO, UNICEF, WHO, UNICEF, UNFPA, The World Bank, ØE Olsen   +68 more
core   +5 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Patient reported outcome measures for use in pregnancy and childbirth: a systematic review

BMC Pregnancy and Childbirth, 2019
Background Globally, an increasing number of women give birth in a healthcare facility. Improvement in the quality of care is crucial if preventable maternal mortality and morbidity are to be reduced. A Patient Reported Outcome Measure (PROM) can be used
Fiona Dickinson, Mary McCauley, Helen Smith, Nynke van den Broek   +3 more
doaj   +1 more source

Opportunity analysis of newborn screening programs [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
HERRERO, Carmen, MORENO-TERNERO, Juan D.
core  

State of newborn health in India

Journal of Perinatology, 2016
About 0.75 million neonates die every year in India, the highest for any country in the world. The neonatal mortality rate (NMR) declined from 52 per 1000 live births in 1990 to 28 per 1000 live births in 2013, but the rate of decline has been slow and ...
M. J. Sankar, S. Neogi, Jyoti Sharma, M. Chauhan, R. Srivastava, P. Prabhakar, Ajay Khera, Rakesh Kumar, Sanjay Zodpey, Vinod K. Paul   +9 more
semanticscholar   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source