Results 51 to 60 of about 342,862 (291)

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

At‐Home Early Diagnosis of Mastitis: Calibration‐Free Analysis of Sodium to Potassium Ratio in Breast Milk

Advanced Functional Materials, EarlyView.
MAMAWEL is introduced as the first calibration‐free potentiometric sensor for at‐home mastitis diagnosis. By measuring the sodium‐to‐potassium ratio in breast milk, the device reliably differentiates between healthy and mastitis‐affected samples with less than 10% error.
Ali Soleimani, Farbod Amirghasemi, Melissa Banks, Abdulrahman Al‐Shami, Sina Khazaee Nejad, Abdalrhman Sheer, Clare Dominique Sanchez, Haozheng Ma, Daniel Vargas Ramos, Maral P.S. Mousavi   +9 more
wiley   +1 more source

Salmonella enterica Serovars Typhi and Paratyphi A are avirulent in newborn and infant mice even when expressing virulence plasmid genes of Salmonella Typhimurium

Journal of Infection in Developing Countries, 2010
Background: Salmonella enterica serovars Typhi and Paratyphi A are human host-restricted pathogens. Therefore, there is no small susceptible animal host that can be used to assess the virulence and safety of vaccine strains derived from these Salmonella
Javier Santander, Roy Curtiss III
doaj   +1 more source

Inhaled PGE1 in neonates with hypoxemic respiratory failure: two pilot feasibility randomized clinical trials. [PDF]

, 2014
BackgroundInhaled nitric oxide (INO), a selective pulmonary vasodilator, has revolutionized the treatment of neonatal hypoxemic respiratory failure (NHRF). However, there is lack of sustained improvement in 30 to 46% of infants.
Ambalavanan, Namasivayam, Bara, Rebecca, Cotten, C Michael, Das, Abhik, Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, Garg, Meena, Higgins, Rosemary D, Keszler, Martin, Klein, Jonathan M, Lakshminrusimha, Satyan, Malian, Monica, Nelin, Leif D, Ohls, Robin, Saha, Shampa, Sanchez, Pablo J, Shankaran, Seetha, Sood, Beena G, Van Meurs, Krisa P, Wallace, Dennis   +18 more
core   +2 more sources

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 more
wiley   +1 more source

Improving Communication between Doctors and Parents after Newborn Screening [PDF]

, 2011
Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie, Collins, Jenelle, Eskra, Kerry, Farrell, Michael, Farrell, Philip M., Hoffman, Gary, Kennedy-Parker, Karen, La Pean, Alison, Panepinto, Julie, Tluczek, Audrey   +9 more
core   +2 more sources

Hydrocolloid‐Based Multiwavelength Stretchable QD‐OLED Patch for Simultaneous Neonatal Jaundice and Dermatitis Treatment with Biosignal Monitoring

Advanced Healthcare Materials, EarlyView.
Comparison of therapeutic and diagnostic applications of a surface‐emitting light source with multiwavelength emission characteristics. Abstract Conventional light‐emitting‐diode‐based light sources suffer from rigidity, localized heating, and poor adaptability to skin deformation, limiting their use in skin‐attached medical devices.
In Ho Kim, Young Woo Kim, Jae‐Young Jeong, Ye Ji Shin, Chaeyeong Lee, Jae Gyun Choi, Oh Kwan Kwon, Kyoung Hwa Kim, Sang Jik Kwon, Eou‐Sik Cho, Yongmin Jeon   +10 more
wiley   +1 more source