Search Results - "Orbach, Rotem"

Comparison of disease activity in SPMS and PPMS in the context of multicenter clinical trials by Orbach, Rotem, Zhao, Zhenming, Wang, Yong-Cheng, O'Neill, Gilmore, Cadavid, Diego

“…Retrospective single center natural history studies have shown that times to reach disability milestones and ages at which they are reached are similar in…”
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Pulmonary Hemorrhage Due to Coxsackievirus B Infection − a Call to Raise Suspicion of this Important Complication As an End-stage of Enterovirus Sepsis in Preterm Twin Neonates by Orbach, Rotem, MD, Mandel, Dror, MD, Lubetzky, Ronit, MD, Ovental, Amit, MD, Haham, Alon, MD, Halutz, Ora, MSC, Grisaru-Soen, Galia, MD

“…Highlights • Prematurity is a risk factor for the fulminate form of neonatal enteroviral infection. • Our report emphasizes the morbid complication of…”
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Maternal and neonatal hyponatremia during labor: a case series by Solomon, Neta, Many, Ariel, Orbach, Rotem, Mandel, Dror, Shinar, Shiri

“…Background: Hyponatremia during labor and delivery may result in severe maternal and neonatal sequelae. Our aim was to describe the direct effect of…”
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The Effect of Deep Freezing on Human Milk Macronutrients Content by Orbach, Rotem, Mandel, Dror, Mangel, Laurence, Marom, Ronella, Lubetzky, Ronit

“…Long-term storage of human milk (HM) requires freezing at low temperatures, the consequences of which upon macronutrients are unclear. The conflicting results…”
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Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy by Orbach, Rotem, Sagi, Liora, Sadot, Efraim, Tokatly Latzer, Itay, Shtamler, Anna, Zisberg, Tehila, Fattal‐Valevski, Aviva

“…Introduction/Aims There is limited information on the potential effects of repeated intrathecal antisense oligonucleotide drug delivery on cerebrospinal fluid…”
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Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene by Tokatly Latzer, Itay, Sagi, Liora, Bali, Deeksha Sarihyan, Rehder, Catherine, Orbach, Rotem, Fattal-Valevski, Aviva

“…Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the gene. It manifests as a broad spectrum of…”
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Interleukin-12p40 in the spinal fluid as a biomarker for clinically isolated syndrome by Orbach, Rotem, Gurevich, Michael, Achiron, Anat

“…Background: The cerebrospinal (CSF) constitutes a specific immune micro-environment to the central nervous system, thus it may contain specific biomarkers…”
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Outpatient Management of Headache after Pediatric Emergency Department Visit: Are we Missing Anything? by Glatstein, Miguel, Voliovitch, Yair, Orbach, Rotem, Carmi, Amit, Amarilyo, Gil, Carbell, Gary, Rimon, Ayelet

“…Background Headache is a common complaint in children at a pediatric emergency department (PED). The primary objective of this analysis is to describe the…”
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Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis by Orbach, Rotem, Schneebaum Sender, Nira, Lubetzky, Ronit, Fattal-Valevski, Aviva

“…Objective: To assess the intracranial pressure in pediatric acute disseminated encephalomyelitis using spinal tap opening pressure on lumbar puncture, which is…”
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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes by Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T, Töpf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A, Bönnemann, Carsten G

“…Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA)…”
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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis by Dohrn, Maike F, Beijer, Danique, Lone, Museer A, Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J, Gable, Kenneth, Dunn, Teresa, Chen, Sitong, Danzi, Matt C, Synofzik, Matthis, Bönnemann, Carsten G, Nazlı Başak, A, Hornemann, Thorsten, Zuchner, Stephan

“…BackgroundAmyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific gain-of-function…”
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The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study by Mitelpunkt, Alexis, Kramer, Uri, Hausman Kedem, Moran, Zilbershot Fink, Efrat, Orbach, Rotem, Chernuha, Veronika, Fattal-Valevski, Aviva, Deutsch, Lisa, Heffetz, Daphna, Sacks, Hagit

“…Several works have reported on the antiepileptic impact of cannabis-based preparations in patients with treatment-resistant epilepsy (TRE). However, current…”
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Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001) by Orbach, Rotem, Syeda, Safoora, Mohassel, Payam, Dohrn, Maike, Lone, Museer A., Donkervoort, Sandra, Foley, A. Reghan, Beijer, Danique, Bayraktar, Elif, Oflazer, Piraye, Munot, Pinki, Rose, Aubrey, Lyons, Michael, Louie, Raymond, Gable, Kenneth, Franca, Marcondes C., Galarza-Brito, Juan E., Eckenweiler, Matthias, Asamoah, Alexander, Majumdar, Anirban, Shieh, Perry, Schumann, Anke, Gupta, Sita D., Lakhotia, Arpita, Jackson, Kelly, Chao, Kathrine R., Winder, Thomas, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Chen, Sitong, Danzi, Matt, Synofzik, Matthis, Muntoni, Francesco, Başak, A. Nazli, Dunn, Teresa M., Hornemann, Thorsten, Zuchner, Stephan, Bonnemann, Carsten

“…Abstract only…”
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Acute disseminated encephalomyelitis in children - clinical and MRI decision making in the emergency department by Bisker Kassif, Orly, Orbach, Rotem, Rimon, Ayelet, Scolnik, Dennis, Glatstein, Miguel

“…Acute disseminated encephalomyelitis (ADEM) is an uncommon, treatable, primarily pediatric, immune-mediated disease. Diagnosis of ADEM requires two essential…”
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Are We Over-Treating Insect Bite Related Periorbital Cellulitis in Children? The Experience of a Large, Tertiary Care Pediatric Hospital by Friedel, Nadav, Scolnik, Dennis, Rimon, Ayelet, Orbach, Rotem, Laat, Sharon, Glatstein, Miguel M

“…Preseptal (periorbital) and orbital cellulitis are potentially catastrophic infections near the eye. Preseptal cellulitis is far more common, and although…”
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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease by Donkervoort, Sandra, van de Locht, Martijn, Ronchi, Dario, Reunert, Janine, McLean, Catriona A, Zaki, Maha, Orbach, Rotem, de Winter, Josine M, Conijn, Stefan, Hoomoedt, Daan, Neto, Osorio Lopes Abath, Magri, Francesca, Viaene, Angela N, Foley, A Reghan, Gorokhova, Svetlana, Bolduc, Véronique, Hu, Ying, Acquaye, Nicole, Napoli, Laura, Park, Julien H, Immadisetty, Kalyan, Miles, Lee B, Essawi, Mona, McModie, Salar, Ferreira, Leonardo F, Zanotti, Simona, Neuhaus, Sarah B, Medne, Livija, ElBagoury, Nagham, Johnson, Kory R, Zhang, Yong, Laing, Nigel G, Davis, Mark R, Bryson-Richardson, Robert J, Hwee, Darren T, Hartman, James J, Malik, Fady I, Kekenes-Huskey, Peter M, Comi, Giacomo Pietro, Sharaf-Eldin, Wessam, Marquardt, Thorsten, Ravenscroft, Gianina, Bönnemann, Carsten G, Ottenheijm, Coen A C

“…Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( ) and TnI-slow ( ), are predominantly expressed in fast-…”
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The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children by Tokatly Latzer, Itay, Orbach, Rotem, Ben-Sira, Liat, Mezad-Koursh, Daphna, Bachar Zipori, Anat, Roth, Jonathan, Constantini, Shlomi, Fattal-Valevski, Aviva, Lubetzky, Ronit

“…The clinical applicability and yield of brain magnetic resonance imaging (MRI) in the setting of an inpatient pediatric department has not been investigated…”
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Is There a Role for Placental Cultures in Cases of Clinical Chorioamnionitis Complicating Preterm Premature Rupture of Membranes? by Fouks, Yuval, Many, Ariel, Orbach, Rotem, Shapira, Udi, Amit, Sharon, Grisaru-Soen, Galia, Mandel, Dror, Shinar, Shiri

“…To assess the role of placental cultures in cases of preterm premature rupture of membranes (PPROM) complicated by chorioamnionitis and to determine the effect…”
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Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation by Silverstein, Sarah, Orbach, Rotem, Syeda, Safoora, Foley, A. Reghan, Gorokhova, Svetlana, Meilleur, Katherine G., Leach, Meganne E., Uapinyoying, Prech, Chao, Katherine R., Donkervoort, Sandra, Bönnemann, Carsten G.

“…Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and…”
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