Article
Clinical Neurology
Kotaro Yazaki, Satoru Sakuma, Norikatsu Hikita, Rika Fujimaru, Takashi Hamazaki
Summary: This article presents the renal histopathologic findings of drug-induced thrombotic microangiopathy (TMA) due to onasemnogene abeparvovec. The patient's TMA resolved after receiving treatment.
Article
Clinical Neurology
Mette van Kruijsbergen, Carin D. Schroder, Marjolijn Ketelaar, W. Ludo van der Pol, Inge Cuppen, Annette van der Geest, Fay-Lynn Asselman, Maarten J. Fischer, Johanna M. A. Visser-Meily, Marijke C. Kars
Summary: Parents' perspectives on deciding whether their child should receive nusinersen treatment vary, from focusing on treating the disease to pursuing a good quality of life for their child. Honest and neutral communication with their physician and access to available information are key factors that help parents make decisions.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2021)
Article
Pharmacology & Pharmacy
Arlene M. D'Silva, Didu Kariyawasam, Pooja Venkat, Chelsea Mayoh, Michelle A. A. Farrar
Summary: The search for clinically significant biomarkers that provide insight into disease progression and therapeutic response is crucial for spinal muscular atrophy (SMA) disease modifying therapies. In this study, miRNA-sequencing was used to identify differential miRNA expression in the cerebrospinal fluid (CSF) of six SMA children treated with nusinersen. Fourteen differentially expressed miRNAs were significantly altered during nusinersen treatment, with miR-7-5p, miR-15a-5p, miR-15b-3p/5p, miR-126-5p, miR-128-2-5p, and miR-130a-3p showing the greatest magnitude of change. The study also identified the mammalian target of rapamycin and mitogen-activated protein kinase signaling pathways as being important.
Article
Neurosciences
Goran Simic, Vana Vukic, Marija Babic, Maria Banovic, Ivana Berecic, Ena Spanic, Klara Zubcic, Anja Tea Golubic, Marija Barisic Kutija, Ana Merkler Sorgic, Zeljka Vogrinc, Ivan Lehman, Patrick R. Hof, Jadranka Sertic, Nina Barisic
Summary: This study aimed to identify reliable markers for monitoring treatment response and predicting treatment outcomes in patients with spinal muscular atrophy (SMA). The main finding was that the concentration of total tau protein in cerebrospinal fluid (CSF) correlated significantly with the duration of nusinersen treatment and motor improvement in SMA patients. The measurement of total tau concentration in CSF can serve as a reliable index for monitoring biomarker and clinical response to nusinersen therapy in SMA patients.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Medicine, General & Internal
Sally Dunaway Young, Jacqueline Montes, Allan M. Glanzman, Richard Gee, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Giulia Gambino, Richard Foster, Janice Wong, Steve Garafalo, Zdenek Berger
Summary: Nusinersen treatment can improve or stabilize motor function in non-ambulatory children with later-onset spinal muscular atrophy (SMA). The severity of baseline scoliosis is associated with later motor function, with greater decline in motor function observed in children with more severe scoliosis.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Thomas Meyer, Andre Maier, Zeljko Uzelac, Tim Hagenacker, Rene Guenther, Olivia Schreiber-Katz, Markus Weiler, Robert Steinbach, Ute Weyen, Jan Christoph Koch, Dagmar Kettemann, Jenny Norden, Johannes Dorst, Claudia Wurster, Albert C. Ludolph, Benjamin Stolte, Maren Freigang, Alma Osmanovic, Susanne Petri, Julian Grosskreutz, Annekathrin Roediger, Ramona Griep, Marcel Gaudlitz, Bertram Walter, Christoph Muench, Susanne Spittel
Summary: This study investigated treatment expectations and perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen. The results showed that patients had a positive perception of nusinersen therapy, and treatment expectations were associated with SMA type and functional status.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Pediatrics
Zhi-Juan Zhong, Pi-Mei Zheng, Hui-Hong Dou, Ji-Gan Wang
Summary: This study aimed to systematically analyze adverse events (AEs) in the treatment of spinal muscular atrophy (SMA) with Nusinersen in children and adolescents. The study found that Nusinersen-related AEs were rare and it effectively reduced common, serious, and fatal AEs in children and adolescents with SMA.
FRONTIERS IN PEDIATRICS
(2023)
Article
Clinical Neurology
V. A. Sansone, G. Coratti, M. C. Pera, M. Pane, S. Messina, F. Salmin, E. Albamonte, R. De Sanctis, M. Sframeli, V Di Bella, S. Morando, A. D'Amico, A. L. Frongia, L. Antonaci, A. Pirola, M. Pedemonte, E. Bertini, C. Bruno, E. Mercuri
Summary: The study compared demographics and disease characteristics between regularly followed SMA patients and newcomers, revealing differences in motor and respiratory function, particularly a higher proportion of newcomers at the severe end of the spectrum in type II patients. Only approximately a third of newcomers initiated treatment, compared to 51% of the regularly followed patients. Identification of patients not part of registries will help redefine the overall prevalence of SMA and different phenotypes.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Medicine, General & Internal
Marie Beaudin, Tahereh Kamali, Whitney Tang, Katharine A. Hagerman, Sally Dunaway Young, Lisa Ghiglieri, Dana M. Parker, Benoit Lehallier, Carolina Tesi-Rocha, Jacinda B. Sampson, Tina Duong, John W. Day
Summary: This study explored the therapeutic pathways and predictors of motor improvement in spinal muscular atrophy (SMA) patients treated with nusinersen through a proteomic analysis of their cerebrospinal fluid (CSF). The study identified certain proteins using a machine learning algorithm that were predictive of motor improvement after 2 years of treatment. These findings highlight the potential application of CSF biomarkers in predicting treatment response in SMA patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Emma Viscidi, Nasha Wang, Maneesh Juneja, Ishir Bhan, Claudia Prada, Dayle James, Stacie Lallier, Corinne Makepeace, Karen Laird, Susan Eaton, Anne Dilley, Susan Hall
Summary: This retrospective analysis using US EHR data found that SMA patients had an approximately fourfold increased risk of hydrocephalus compared with non-SMA controls in the era preceding nusinersen treatment. It suggests the importance of properly evaluating adverse events in nusinersen-treated SMA patients.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Clinical Neurology
Juan F. Vazquez-Costa, Monica Povedano, Andres E. Nascimiento-Osorio, Antonio Moreno Escribano, Solange Kapetanovic Garcia, Raul Dominguez, Jessica M. Exposito, Laura Gonzalez, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera de Benito, Nancy Carolina Nungo Garzon, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervas
Summary: The study assessed the safety and efficacy of nusinersen in adult SMA patients, finding significant improvements in multiple motor scales in the treated group, with most patients experiencing some degree of improvement with treatment. However, the most severely affected patients with complex spines may have a less favorable risk-benefit ratio.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Medicine, General & Internal
Leigh Ramos-Platt, Lauren Elman, Perry B. Shieh
Summary: Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disorder, with three disease-modifying therapies emerging in recent years, profoundly impacting the treatment of SMA, posing challenges in physician-patient decision-making, and sparking broad discussions in the SMA community.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2022)
Article
Clinical Neurology
Juan F. Vazquez-Costa, Monica Povedano, Andres E. Nascimiento-Osorio, Antonio Moreno Escribano, Solange Kapetanovic Garcia, Raul Dominguez, Jessica M. Exposito, Laura Gonzalez, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera de Benito, Nancy Carolina Nungo Garzon, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervas
Summary: This study evaluated the validity and limitations of assessment scales for adult SMA patients, finding that bedside functional scales have some advantages but limited responsiveness.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Andreas Thimm, Svenja Brakemeier, Kathrin Kizina, Juan Munoz Rosales, Benjamin Stolte, Andreas Totzeck, Cornelius Deuschl, Christoph Kleinschnitz, Tim Hagenacker
Summary: This study investigated the impact of nusinersen on the quality of life of adult SMA patients and found that despite significant improvements in motor function, patients' quality of life did not increase significantly. This highlights the need for novel, disease-specific assessments of quality of life in SMA.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Alma Osmanovic, Gresa Ranxha, Mareike Kumpe, Claudia D. Wurster, Benjamin Stolte, Isabell Cordts, Rene Guenther, Maren Freigang, Lars H. Mueschen, Camilla Binz, Andreas Hermann, Marcus Deschauer, Paul Lingor, Albert C. Ludolph, Tim Hagenacker, Olivia Schreiber-Katz, Susanne Petri
Summary: The study assessed treatment satisfaction of 5q-SMA patients treated with nusinersen, revealing that most patients were satisfied with treatment effectiveness, with higher satisfaction observed in less severely affected patients. There was lower satisfaction in terms of treatment convenience, and non-ambulatory patients were more likely to express dissatisfaction with effectiveness and convenience.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2021)
Article
Ethics
Felix R. De Bie, Sarah D. Kim, Sourav K. Bose, Pamela Nathanson, Emily A. Partridge, Alan W. Flake, Chris Feudtner
Summary: This scoping review examines the ethical literature on artificial womb technology (AWT), discussing both identified and emerging ethical considerations and concerns related to AWT and the care of fetal neonates.
AMERICAN JOURNAL OF BIOETHICS
(2023)
Article
Health Care Sciences & Services
James A. Feinstein, Chris Feudtner, Allison Kempe, Lucas E. Orth
Summary: This study assessed the use of anticholinergic medications and their side effects in children with severe neurological impairment and polypharmacy. It found that the use of anticholinergic medications was associated with the presence of anticholinergic symptoms. The findings suggest that clinicians should consider deprescribing potentially unnecessary anticholinergic medications.
JOURNAL OF PAIN AND SYMPTOM MANAGEMENT
(2023)
Editorial Material
Critical Care Medicine
Sinead Murphy L. Salem, Robert J. Graham
PEDIATRIC CRITICAL CARE MEDICINE
(2023)
Article
Pediatrics
Sarah A. Sobotka, Emma Lynch, Michael E. Msall, Robert J. Graham
Summary: Infants who need ongoing invasive mechanical ventilation after hospital-to-home transition are at high risk for developmental delays. Through developmental testing and interviews with parents, it was found that these children often experience delays in motor, cognitive, and communicative functioning. Restricted hospital environments and limited access to early intervention therapies contribute to these delays, highlighting the need for targeted therapeutic strategies.
PEDIATRIC PULMONOLOGY
(2023)
Article
Health Care Sciences & Services
Lucas E. Orth, Chris Feudtner, Allison Kempe, Megan A. Morris, Kathryn L. Colborn, R. Mark Gritz, Sunny A. Linnebur, Anowara Begum, James A. Feinstein
Summary: This randomized controlled trial aims to determine if a structured pharmacist-led Pediatric Medication Therapy Management (pMTM) intervention reduces medication-related problems (MRPs), symptom burden, and acute healthcare utilization in children with medical complexity (CMC). The trial will assess the effectiveness of pMTM compared to usual care in a large medical home, and will evaluate the outcomes of MRP counts, symptom burden scores, and acute healthcare visit counts.
BMC HEALTH SERVICES RESEARCH
(2023)
Article
Genetics & Heredity
Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs
Summary: This study analyzed healthcare resource utilization in XLMTM patients within a US medical claims database. The results showed a significant increase in healthcare resource use among XLMTM patients over the past five years. Most patients required respiratory and feeding support and had multiple hospitalizations throughout childhood and beyond.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Critical Care Medicine
Manzilat Y. Akande, Sriram Ramgopal, Robert J. Graham, Denise M. Goodman, Julia A. Heneghan
Summary: This study aimed to examine the association between neighborhood factors and emergent readmission to the pediatric intensive care unit (PICU) among survivors of pediatric critical illness. The results showed that children living in neighborhoods with lower opportunities were more likely to have a readmission to the PICU within one year. This study highlights the importance of neighborhood factors in the recovery and outcomes of children.
PEDIATRIC CRITICAL CARE MEDICINE
(2023)
Article
Anesthesiology
Yousof Fawzy, Zia Siddiqui, Samer Narouze, Sudheer Potru, Alyssa M. Burgart, Mercy A. Udoji
Summary: Workplace violence includes physical assault, threatening behavior, and verbal abuse targeting individuals in the workplace. Violence in healthcare settings, particularly pain clinics, is believed to be underreported due to hesitancy to report, lack of support from management and healthcare systems, and absence of institutional policies regarding patient violence against healthcare workers. This article explores the risk factors, costs, and impacts of workplace violence, provides guidance on establishing prevention programs, and addresses recovering from violence in the practice setting.
REGIONAL ANESTHESIA AND PAIN MEDICINE
(2023)
Article
Obstetrics & Gynecology
Alan. W. W. Flake, Felix. R. R. De Bie, David. A. A. Munson, Chris Feudtner
Summary: The goal of Artificial Placenta and Artificial Womb (EXTEND) technologies is to improve outcomes for extreme premature infants. However, they differ significantly in technology, intervention strategy, demonstrated physiology, and risk profiles. Bundling them together for ethical consideration in designing first-in-human trials is misguided.
JOURNAL OF PERINATOLOGY
(2023)
Article
Critical Care Medicine
Miriam T. Fox, Colin Meyer-Macaulay, Hanna Roberts, Stuart Lipsitz, Bryan D. Siegel, Chris Mastropietro, Robert J. Graham, Katie M. Moynihan
Summary: This study explores the associations between the timing of tracheostomy and patient characteristics or outcomes in the cardiac ICU. The results showed that late tracheostomy was associated with higher mortality rates and greater cumulative opioid exposure.
PEDIATRIC CRITICAL CARE MEDICINE
(2023)
Article
Medicine, General & Internal
Arda Hotz, Eli Sprecher, Lucia Bastianelli, Jonathan Rodean, Isabel Stringfellow, Elizabeth Barkoudah, Laurie E. Cohen, Carlos Estrada, Robert Graham, Jonathan Greenwood, Jennifer Kyle, Nina Mann, Maria Pinkham, Toni Solari, Rachel Rosen, Susan Saleeb, Ankoor S. Shah, Karen Watters, Sarah Wells, Jay G. Berry
Summary: This study analyzed the prevalence and spending on durable medical equipment and supplies (DMES) in pediatric patients using Medicaid. The study found that the prevalence of DMES use was 17.1%, and the spending varied depending on the number of complex chronic conditions (CCC).
Meeting Abstract
Critical Care Medicine
Sinead Murphy Salem, Jennifer Perez, Christine Duncan, Steven Staffa, Robert Graham
CRITICAL CARE MEDICINE
(2023)
Meeting Abstract
Critical Care Medicine
Jia Liu, Anna Kordun, Lauren Madoff, Robert Graham
CRITICAL CARE MEDICINE
(2023)
Meeting Abstract
Critical Care Medicine
Matthew Luchette, Alireza Akhondi-Asl, Robert Tasker, Kerri LaRovere, Robert Graham
CRITICAL CARE MEDICINE
(2023)
Article
Clinical Neurology
Perry B. Shieh, Nancy L. Kuntz, James J. Dowling, Wolfgang Mueller-Felber, Carsten G. Bonnemann, Andreea M. Seferian, Laurent Servais, Barbara K. Smith, Francesco Muntoni, Astrid Blaschek, A. Reghan Foley, Dimah N. Saade, Sarah Neuhaus, Lindsay N. Alfano, Alan H. Beggs, Ana Buj-Bello, Martin K. Childers, Tina Duong, Robert J. Graham, Minal Jain, Julie Coats, Vicky Macbean, Emma S. James, Jun Lee, Fulvio Mavilio, Weston Miller, Fatbardha Varfaj, Michael Murtagh, Cong Han, Mojtaba Noursalehi, Michael W. Lawlor, Suyash Prasad, Salvador Rico
Summary: MTM1 gene replacement therapy can improve ventilator dependence and motor function in children with X-linked myotubular myopathy, with most treated children achieving ventilator independence and some attaining the ability to walk independently.
