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1. Molecular diagnosis of 405 individuals with autism spectrum disorder

Author

Miyake, Noriko, Tsurusaki, Yoshinori, Fukai, Ryoko, Kushima, Itaru, Okamoto, Nobuhiko, Ohashi, Kei, Nakamura, Kazuhiko, Hashimoto, Ryota, Hiraki, Yoko, Son, Shuraku, Kato, Mitsuhiro, Sakai, Yasunari, Osaka, Hitoshi, Deguchi, Kimiko, Matsuishi, Toyojiro, Takeshita, Saoko, Fattal-Valevski, Aviva, Ekhilevitch, Nina, Tohyama, Jun, Yap, Patrick, Keng, Wee Teik, Kobayashi, Hiroshi, Takubo, Keiyo, Okada, Takashi, Saitoh, Shinji, Yasuda, Yuka, Murai, Toshiya, Nakamura, Kazuyuki, Ohga, Shouichi, Matsumoto, Ayumi, Inoue, Ken, Saikusa, Tomoko, Hershkovitz, Tova, Kobayashi, Yu, Morikawa, Mako, Ito, Aiko, Hara, Toshiro, Uno, Yota, Seiwa, Chizuru, Ishizuka, Kanako, Shirahata, Emi, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Takata, Atsushi, Mizuguchi, Takeshi, Ozaki, Norio, and Matsumoto, Naomichi

Published
2024
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2. Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein

Author

Esther Osher, Yossi Anis, Ruth Singer-Shapiro, Nataly Urshanski, Tamar Unger, Shira Albeck, Oren Bogin, Gary Weisinger, Fortune Kohen, Avi Valevski, Aviva Fattal-Valevski, Liora Sagi, Michal Weitman, Yulia Shenberger, Nadav Sagiv, Ruth Navon, Meir Wilchek, and Naftali Stern

Subjects
late-onset Tay-Sachs, β-hexosaminidase A, HexA, HEXA, HEXB, enzyme replacement therapy, Genetics, QH426-470, Cytology, QH573-671
Abstract

Tay-Sachs (TS) disease is a neurodegenerative disease resulting from mutations in the gene encoding the α-subunit (HEXA) of lysosomal β-hexosaminidase A (HexA). We report that (1) recombinant HEXA alone increased HexA activity and decreased GM2 content in human TS glial cells and peripheral mononuclear blood cells; 2) a recombinant chimeric protein composed of HEXA linked to two blood-brain barrier (BBB) entry elements, a transferrin receptor binding sequence and granulocyte-colony stimulating factor, associates with HEXB in vitro; reaches human cultured TS cells lysosomes and mouse brain cells, especially neurons, in vivo; lowers GM2 in cultured human TS cells; lowers whole brain GM2 concentration by approximately 40% within 6 weeks, when injected intravenously (IV) to adult TS-mutant mice mimicking the slow course of late-onset TS; and increases forelimbs grip strength. Hence, a chimeric protein equipped with dual BBB entry elements can transport a large protein such as HEXA to the brain, decrease the accumulation of GM2, and improve muscle strength, thereby providing potential treatment for late-onset TS.

Published
2024
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6. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Author

Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, and Servais, Laurent

Published
2024
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15. Hereditary orotic aciduria identified by newborn screening

Author

Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, and Shlomo Almashanu

Subjects
newborn screening (NBS), hereditary orotic aciduria, uridine monophosphate synthase, orotic acid, megaloblastic anemia, neurodevelopmental disability, Genetics, QH426-470
Abstract

Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill.Methods: Measuring orotic acid as part of expanded newborn screening using flow injection analysis tandem mass spectrometry.Results: Since the addition of orotic acid measurement to the Israeli routine newborn screening program, 1,492,439 neonates have been screened. The screen has identified ten Muslim Arab newborns that remain asymptomatic so far, with DBS orotic acid elevated up to 10 times the upper reference limit. Urine organic acid testing confirmed the presence of orotic aciduria along with homozygous variations in the UMPS gene.Conclusion: Newborn screening measuring of orotic acid, now integrated into the routine tandem mass spectrometry panel, is capable of identifying neonates with hereditary orotic aciduria.

Published
2023
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16. Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs.

Author

Whitfield, Kyly, Bourassa, Megan, Adamolekun, Bola, Bergeron, Gilles, Bettendorff, Lucien, Brown, Kenneth, Cox, Lorna, Fattal-Valevski, Aviva, Fischer, Philip, Frank, Elizabeth, Hiffler, Laurent, Hlaing, Lwin, Jefferds, Maria, Kapner, Hallie, Kounnavong, Sengchanh, Mousavi, Maral, Roth, Daniel, Tsaloglou, Maria-Nefeli, Wieringa, Frank, and Combs, Gerald

Subjects
LMIC, beriberi, erythrocyte transketolase, nutrition, thiamine deficiency, thiamine diphosphate, Dietary Supplements, Food, Fortified, Global Health, Humans, Prevalence, Public Health, Risk Factors, Thiamine Deficiency
Abstract

Thiamine is an essential micronutrient that plays a key role in energy metabolism. Many populations worldwide may be at risk of clinical or subclinical thiamine deficiencies, due to famine, reliance on staple crops with low thiamine content, or food preparation practices, such as milling grains and washing milled rice. Clinical manifestations of thiamine deficiency are variable; this, along with the lack of a readily accessible and widely agreed upon biomarker of thiamine status, complicates efforts to diagnose thiamine deficiency and assess its global prevalence. Strategies to identify regions at risk of thiamine deficiency through proxy measures, such as analysis of food balance sheet data and month-specific infant mortality rates, may be valuable for understanding the scope of thiamine deficiency. Urgent public health responses are warranted in high-risk regions, considering the contribution of thiamine deficiency to infant mortality and research suggesting that even subclinical thiamine deficiency in childhood may have lifelong neurodevelopmental consequences. Food fortification and maternal and/or infant thiamine supplementation have proven effective in raising thiamine status and reducing the incidence of infantile beriberi in regions where thiamine deficiency is prevalent, but trial data are limited. Efforts to determine culturally and environmentally appropriate food vehicles for thiamine fortification are ongoing.

Published
2018

19. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Author

Helman, Guy, Zerem, Ayelet, Almad, Akshata, Hacker, Julia L., Woidill, Sarah, Sase, Sunetra, LeFevre, Alexandra N., Ekstein, Josef, Johansson, Martin M., Stutterd, Chloe A., Taft, Ryan J., Simons, Cas, Grinspan, Judith B., Pizzino, Amy, Schmidt, Johanna L., Harding, Brian, Hirsch, Yoel, Viaene, Angela N., Fattal-Valevski, Aviva, and Vanderver, Adeline

Published
2021
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21. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Author

Neurologen, Brain, Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W. Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent, Neurologen, Brain, Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W. Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, and Servais, Laurent

Published
2024

22. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, Roy, S. Q., Servais, L., Munell, F., Molinero, M. A., Natera de Benito, D., Nascimento, A., Gomez-Andres, D., Comellas, L. C., Exposito, J., Tizzano, E. F., Cuppen, I., Van der Pol, L., Aleman, A., Lochmuller, H., Mcmillan, H., Kirschner, J., Muller, C., Oskoui, M., Masson, R., Bruno, C., Gonorazky, H. D., Tesi-Rocha, C., Yaworski, A. M., Zanoteli, E., Mendonca, R., D'Amico, A., Cumbo, F., Tosi, Clelia Maria, Pane, Marika, Mercuri, Eugenio Maria, Nardes, F., Prufer, A., Arci, B. K., Pascual, S. I., Fattal-Valevski, A., De Waele, L., Deconinck, N., Farrar, M., Haberlova, J., Gomez-Garcia de la Banda, M., Childs, A. -M., Martos, C., Wraige, E., Gowda, V., Illingworth, M., Ong, M., Majundar, A., Hughes, I., Torne, K., Willis, T., Ramdas, S., De Goede, C., Erbas, Y., Brusa, C., Scoto, M., Muntoni, F., Baranello G., Tosi M., Pane M. (ORCID:0000-0002-4851-6124), Mercuri E. (ORCID:0000-0002-9851-5365), Baranello, Giovanni, Roy, S. Q., Servais, L., Munell, F., Molinero, M. A., Natera de Benito, D., Nascimento, A., Gomez-Andres, D., Comellas, L. C., Exposito, J., Tizzano, E. F., Cuppen, I., Van der Pol, L., Aleman, A., Lochmuller, H., Mcmillan, H., Kirschner, J., Muller, C., Oskoui, M., Masson, R., Bruno, C., Gonorazky, H. D., Tesi-Rocha, C., Yaworski, A. M., Zanoteli, E., Mendonca, R., D'Amico, A., Cumbo, F., Tosi, Clelia Maria, Pane, Marika, Mercuri, Eugenio Maria, Nardes, F., Prufer, A., Arci, B. K., Pascual, S. I., Fattal-Valevski, A., De Waele, L., Deconinck, N., Farrar, M., Haberlova, J., Gomez-Garcia de la Banda, M., Childs, A. -M., Martos, C., Wraige, E., Gowda, V., Illingworth, M., Ong, M., Majundar, A., Hughes, I., Torne, K., Willis, T., Ramdas, S., De Goede, C., Erbas, Y., Brusa, C., Scoto, M., Muntoni, F., Baranello G., Tosi M., Pane M. (ORCID:0000-0002-4851-6124), and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

n/a

Published
2024

26. Controlled amnioreduction for twin-to-twin transfusion syndrome

Author

Zoya Gordon, Aviva Fattal-Valevski, David Elad, and Ariel J. Jaffa

Subjects
Gynecology and obstetrics, RG1-991, Public aspects of medicine, RA1-1270
Abstract

Background: Twin-to-twin transfusion syndrome (TTTS) is a severe condition causing preterm delivery, fetal death, and neurodevelopmental disorders. This study presents a data-based controlled amnioreduction (AR) protocol composed of sequential amniodrainage in treatment of TTTS. Methods: A total of 18 procedures were performed in 11 TTTS pregnancies at 17 to 34 weeks of gestation. The amniotic pressure was measured along with sequential removal of the amniotic fluid, 500 mL each step. The umbilical artery systolic/diastolic (S/D) ratio for each twin was measured pre- and post-AR. Long-term neurodevelopmental outcomes of all TTTS survivors were evaluated from parental answers to a phone survey. Results: The amniotic pressure decreased exponentially with the increased volume of removed amniotic fluid until a plateau was obtained. Changes of the S/D ratio between pre- and post-AR procedure did not reveal a clear tendency. The survival rate was 86.4% although 91% of all twins were at Quintero stage III. Long-term neurodevelopment outcomes in the 19 surviving twins were 68.4% optimal, 26.3% suboptimal, and 5.3% abnormal. Conclusion: The controlled AR procedure resulted in a relatively high rate of twin survival with favorable long-term neurodevelopment outcomes.

Published
2022
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27. Functional Benefit and Orthotic Effect of Dorsiflexion-FES in Children with Hemiplegic Cerebral Palsy

Author

Idan Segal, Sam Khamis, Liora Sagie, Jacob Genizi, David Azriel, Sharona Katzenelenbogen, and Aviva Fattal-Valevski

Subjects
hemiplegia, cerebral palsy, FES, functional benefit, Pediatrics, RJ1-570
Abstract

Functional electrical stimulation of the ankle dorsiflexor (DF-FES) may have advantages over ankle foot orthoses (AFOs) in managing pediatric cerebral palsy (CP). This study assessed the functional benefit and orthotic effect of DF-FES in children with hemiplegic CP. We conducted an open-label prospective study on children with hemiplegic CP ≥ 6 years who used DF-FES for five months. The functional benefit was assessed by repeated motor function tests and the measurement of ankle biomechanical parameters. Kinematic and spatiotemporal parameters were assessed by gait analysis after one and five months. The orthotic effect was defined by dorsiflexion ≥ 0° with DF-FES at either the mid or terminal swing. Among 26 eligible patients, 15 (median age 8.2 years, range 6–15.6) completed the study. After five months of DF-FES use, the results on the Community Balance and Mobility Scale improved, and the distance in the Six-Minute Walk Test decreased (six-point median difference, 95% CI (1.89, 8.1), –30 m, 95% CI (−83.67, −2.6), respectively, p < 0.05) compared to baseline. No significant changes were seen in biomechanical and kinematic parameters. Twelve patients (80%) who showed an orthotic effect at the final gait analysis experienced more supported walking over time, with a trend toward slower walking. We conclude that the continuous use of DF–FES increases postural control and may cause slower but more controlled gait.

Published
2023
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29. Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

Author

Katarzyna Kotulska, Aviva Fattal-Valevski, and Jana Haberlova

Subjects
spinal muscular atrophy, spinal muscular atrophy treatment, onasemnogene abeparvovec, gene therapy, AAV9, Neurology. Diseases of the nervous system, RC346-429
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants. Recently, disease modifying therapies have been introduced in clinical practice. They include intrathecal and oral antisense oligonucleotides binding to pre-mRNA of SMN2 gene and increasing the translation of fully functional SMN protein as well as SMN1 gene replacement therapy. Onasemnogene abeparvovec uses the adeno-associated virus 9 (AAV9) vector to deliver the SMN1 gene. Phase 1 and phase 3 clinical trials showed that a single administration of onasemnogene abeparvovec resulted in improvement of motor functions in the majority of infants with SMA. Currently, phase 3 trials in SMA1 and SMA2 patients, as well as presymptomatic infants diagnosed with SMA, are ongoing. The drug was approved for medical use in the US in 2019, and in Japan and the European Union in 2020. Thus, first real-world data on efficacy and safety of onasemnogene abeparvovec in SMA patients are available.

Published
2021
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32. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, and Muntoni, Francesco, additional

Published
2023
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35. Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A)

Author

Tatiana Rabinski, Sivan T. Sagiv, Moran Hausman-Kedem, Aviva Fattal-Valevski, Moran Rubinstein, Karen B. Avraham, and Gad D. Vatine

Subjects
Biology (General), QH301-705.5
Abstract

The GLUN2D subunit of the N-methyl D-aspartate receptor (NMDAR) is encoded by the GRIN2D gene. Mutations in GRIN2D have been associated with neurodevelopmental and epileptic encephalopathies. Access to patient samples harboring mutations in GRIN2D can contribute to understanding the role of NMDAR in neuronal development and function. We report the generation of induced pluripotent stem cell (iPSC) lines from a GRIN2D-developmental and epileptic encephalopathy (DEE) patient, carrying a de novo c.1999G>A heterozygous pathogenic variant, and his healthy parent. Generated lines highly expressed pluripotency markers, spontaneously differentiated into the three germ layers, retained the deficiency-causing mutation, and displayed normal karyotypes.

Published
2021
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37. Neurosurgical aspects of Noonan syndrome

Author

Eldad Saragosti, Aviva Fattal-Valevski, Dror Levin, Moran Hausman-Kedem, Shlomi Constantini, Noa Mecica, Shiri Zarour, and Jonathan Roth

Subjects
Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine
Published
2023
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38. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

Author

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, and Regina Trollmann

Subjects
intelligence quotient, tuberous sclerosis complex, TSC-associated neuropsychiatric disorders, TOSCA, TAND profile, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, international cohort.Methods: Individuals of any age with a documented visit for TSC in the 12 months prior to enrolment were included. Frequency and percentages of baseline TAND manifestations were presented by categories of IA (no intellectual disability [ID, intelligence quotient (IQ)>70]; mild ID [IQ 50–70]; moderate-to-profound ID [IQ

Published
2020
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39. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Author

Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S. Damseh, Elena Dumin, Aviva Fattal‐Valevski, Tzipora C. Falik‐Zaccai, Clair Habib, Sagi Josefsberg, Stanley H. Korman, Katya Kneller, Yuval Landau, Tally Lerman‐Sagie, Hanna Mandel, Yehoshua Manor, Tameemi Moady Abdalla, Rachel Rock, Nira Rostami, Ann Saada, Talya Saraf‐Levy, Nava Shaul Lotan, Ronen Spiegel, Orna Staretz‐Chacham, Galit Tal, Igor Ulanovsky, Taly Vaisid, Yael Wilnai, and Shlomo Almashanu

Subjects
Genetics, Genetics (clinical)
Abstract

Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose-1-phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it from becoming universal. In order to develop the Israeli newborn screening pilot algorithm for galactosemia, flow injection analysis tandem mass spectrometry measurement of galactose-1-phosphate in archived dried blood spots from newborns with classical galactosemia, galactosemia variants, epimerase deficiency, and normal controls, was conducted. Out of 431 330 newborns screened during the pilot study (30 months), two with classical galactosemia and four with epimerase deficiency were identified and confirmed. Five false positives and no false negatives were recorded. Following this pilot study, the Israeli final and routine newborn screening algorithm, as recommended by the Advisory Committee to the National Newborn Screening Program, now consists of galactose-1-phosphate measurement integrated into the routine tandem mass spectrometry panel as the first-tier screening test, and GALT enzyme activity as the second-tier performed to identify only newborns suspected to be at risk for classical galactosemia. The GALT enzyme activity cut-off used in the final algorithm was lowered in order to avoid false positives.

Published
2022
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40. Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy

Author

Rotem Orbach, Liora Sagi, Efraim Sadot, Itay Tokatly Latzer, Anna Shtamler, Tehila Zisberg, and Aviva Fattal‐Valevski

Subjects
Muscular Atrophy, Spinal, Cellular and Molecular Neuroscience, Glucose, Physiology, Physiology (medical), Oligonucleotides, Humans, Neurology (clinical), Spinal Muscular Atrophies of Childhood, Injections, Spinal
Abstract

There is limited information on the potential effects of repeated intrathecal antisense oligonucleotide drug delivery on cerebrospinal fluid (CSF) biochemical and blood cell profiles. This study aimed to examine longitudinal changes in the biochemical components (glucose, protein) and blood cell counts in the CSF of spinal muscular atrophy (SMA) patients treated with intrathecal nusinersen.We collected and analyzed clinical and CSF parameters (cell count, protein, glucose, culture) of 50 individuals with SMA during nusinersen treatment (22 type 1, 17 type 2, and 11 type 3).The median protein concentration at baseline and during treatment was within the normal range but rose during treatment and was significantly above baseline at the time of the ninth intrathecal injection (p = 0.02, two-tailed Wilcoxon matched-pairs test, and p = 0.0015, Friedman test for repeated measures). Further analysis showed that the increase in CSF protein concentration was evident for SMA types 2 and 3 patients, but not for type 1. This observation was also demonstrated by a significant correlation between the SMN2 gene copy number and the increase in CSF protein concentration (Spearman rank correlation test).Our results demonstrate that a delayed increase in CSF protein concentration is expected during nusinersen treatment for SMA types 2 and 3. This might reflect the medication's effect and a possible therapeutic biochemical marker.

Published
2022
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42. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Author

Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., and Taylor, Robert W.

Published
2016
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43. Molecular diagnosis of 405 individuals with autism spectrum disorder

Author

Miyake, Noriko, primary, Tsurusaki, Yoshinori, additional, Fukai, Ryoko, additional, Kushima, Itaru, additional, Okamoto, Nobuhiko, additional, Ohashi, Kei, additional, Nakamura, Kazuhiko, additional, Hashimoto, Ryota, additional, Hiraki, Yoko, additional, Son, Shuraku, additional, Kato, Mitsuhiro, additional, Sakai, Yasunari, additional, Osaka, Hitoshi, additional, Deguchi, Kimiko, additional, Matsuishi, Toyojiro, additional, Takeshita, Saoko, additional, Fattal-Valevski, Aviva, additional, Ekhilevitch, Nina, additional, Tohyama, Jun, additional, Yap, Patrick, additional, Keng, Wee Teik, additional, Kobayashi, Hiroshi, additional, Takubo, Keiyo, additional, Okada, Takashi, additional, Saitoh, Shinji, additional, Yasuda, Yuka, additional, Murai, Toshiya, additional, Nakamura, Kazuyuki, additional, Ohga, Shouichi, additional, Matsumoto, Ayumi, additional, Inoue, Ken, additional, Saikusa, Tomoko, additional, Hershkovitz, Tova, additional, Kobayashi, Yu, additional, Morikawa, Mako, additional, Ito, Aiko, additional, Hara, Toshiro, additional, Uno, Yota, additional, Seiwa, Chizuru, additional, Ishizuka, Kanako, additional, Shirahata, Emi, additional, Fujita, Atsushi, additional, Koshimizu, Eriko, additional, Miyatake, Satoko, additional, Takata, Atsushi, additional, Mizuguchi, Takeshi, additional, Ozaki, Norio, additional, and Matsumoto, Naomichi, additional

Published
2023
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44. Hereditary orotic aciduria identified by newborn screening

Author

Staretz-Chacham, Orna, primary, Damseh, Nadirah S., additional, Daas, Suha, additional, Abu Salah, Nasser, additional, Anikster, Yair, additional, Barel, Ortal, additional, Dumin, Elena, additional, Fattal-Valevski, Aviva, additional, Falik-Zaccai, Tzipora C., additional, Hershkovitz, Eli, additional, Josefsberg, Sagi, additional, Landau, Yuval, additional, Lerman-Sagie, Tally, additional, Mandel, Hanna, additional, Rock, Rachel, additional, Rostami, Nira, additional, Saraf-Levy, Talya, additional, Shaul Lotan, Nava, additional, Spiegel, Ronen, additional, Tal, Galit, additional, Ulanovsky, Igor, additional, Wilnai, Yael, additional, Korman, Stanley H., additional, and Almashanu, Shlomo, additional

Published
2023
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47. Utility of Genetic Testing in Children with Leukodystrophy

Author

Zerem, Ayelet, primary, Libzon, Stephanie, additional, Ben Sira, Liat, additional, Meirson, Hadas, additional, Hausman-Kedem, Moran, additional, Haviv, Noam, additional, Yosovich, Keren, additional, Mory, Adi, additional, Baris Feldman, Hagit, additional, Lev, Dorit, additional, Lerman-Sagie, Tally, additional, Fattal-Valevski, Aviva, additional, Hacohen, Yael, additional, and Marom, Daphna, additional

Published
2023
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48. Radiologically isolated aquaporin-4 antibody neuromyelitis optica spectrum disorder

Author

Omar Abdel-Mannan, Ainat Klein, Anat Bachar Zipori, Liat Ben-Sira, Aviva Fattal-valevski, Yael Hacohen, and Hadas Meirson

Subjects
Aquaporin 4, Optic Neuritis, Neurology, Neuromyelitis Optica, Humans, Female, sense organs, Neurology (clinical), Child, Autoantibodies
Abstract

Aquaporin-4 antibody (AQP4-Ab) Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare neuroinflammatory syndrome presenting predominantly with optic neuritis and transverse myelitis. We report a case of radiologically isolated longitudinally extensive optic neuritis in an asymptomatic 12-year-old female with positive serum AQP4-Ab, with resolution of imaging changes after immune therapy. By contrast to patients with radiologically isolated syndrome, of which some will never convert to multiple sclerosis, the pathogenicity of AQP4-Ab in the context of sub-clinical disease, supported treatment in our patient. Given the severe morbidity in AQP4-Ab NMOSD, prognostic biomarkers for disease severity are required to guide optimal therapy for patients.

Published
2022
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49. Nonrespiratory complications of nusinersen‐treated spinal muscular atrophy type 1 patients

Author

Moran Lavie, Mika Rochman, Liora Sagi, Anat Yerushalmy Feler, Dror Ovadia, Michal Cahal, Moria Be'er, Efraim Sadot, Aviva Fattal‐Valevski, and Israel Amirav

Subjects
Male, Muscular Atrophy, Spinal, Pulmonary and Respiratory Medicine, Scoliosis, Respiration, Pediatrics, Perinatology and Child Health, Oligonucleotides, Humans, Infant, Spinal Muscular Atrophies of Childhood
Abstract

Emergence of new treatments for spinal muscular atrophy type 1 (SMA1) has led to dramatic improvements in respiratory failure and survival. However, these "treated" patients sustain major problems in other organ systems, which may directly or indirectly affect their respiratory function. We observed three main nonrespiratory manifestations in these patients comprised of facial deformities, feeding problems, and spinal deformities.To investigate these three main sequelae in nusinersen-treated SMA1 patients.Data on nusinersen-treated SMA1 patients were prospectively collected throughout a 3-year period, with special focus upon nonrespiratory features of the disease.Twenty nusinersen-treated SMA1 patients were included (eight males, median age 13.5 months, interquartile range: 4-56.2 months), among whom 17 survived after 3 years of follow-up. At follow-up, 15 (88%) patients were diagnosed with facial weakness, hypoplasia, or deformity. All but one patient (94%) were fed invasively by percutaneous endoscopic gastrostomy or nasogastric tube feeding. Four patients (25%) had maintained oral feeding in parallel to gastrostomy feeding and had clinical and radiologic evidence of aspirations. Fifteen (88%) patients were diagnosed with scoliosis, of whom seven had undergone or were scheduled to undergo corrective surgery.Nusinersen-treated SMA1 patients may sustain facial deformities, feeding problems, and severe scoliosis, all of which affect their respiratory system. Strict surveillance of these complications is essential to avoid further respiratory morbidity.

Published
2022
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50. Molecular diagnosis of 405 individuals with autism spectrum disorder

Author

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, and Naomichi Matsumoto

Subjects
Genetics, Genetics (clinical)
Published
2023
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