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22 results on '"Bar‐Aluma, Bat El"'

1. Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Author

Kazachkov, Mikhail, Palma, Jose-Alberto, Norcliffe-Kaufmann, Lucy, Bar-Aluma, Bat-El, Spalink, Christy L., Barnes, Erin P., Amoroso, Nancy E., Balou, Stamatela M., Bess, Shay, Chopra, Arun, Condos, Rany, Efrati, Ori, Fitzgerald, Kathryn, Fridman, David, Goldenberg, Ronald M., Goldhaber, Ayelet, Kaufman, David A., Kothare, Sanjeev V., Levine, Jeremiah, Levy, Joseph, Lubinsky, Anthony S., Maayan, Channa, Moy, Libia C., Rivera, Pedro J., Rodriguez, Alcibiades J., Sokol, Gil, Sloane, Mark F., Tan, Tina, and Kaufmann, Horacio

Published
2018
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3. A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia

Author

Bar-Aluma, Bat-el, Efrati, Ori, Kaufmann, Horacio, Palma, Jose-Alberto, and Norcliffe-Kaufmann, Lucy

Subjects
Bronchodilator agents -- Dosage and administration -- Complications and side effects, Dysautonomia -- Drug therapy -- Research, Health
Abstract

Background Chronic lung disease is a leading cause of premature death in patients with familial dysautonomia (FD). A significant number of patients have obstructive airway disease, yet it is not known whether this is pharmacologically reversible. Methods We conducted a double-blind, placebo-controlled, randomized clinical trial comparing the beta 2 agonist albuterol with the muscarinic blocker ipratropium bromide in patients homozygous for the IKBKAP founder mutation. Albuterol, ipratropium bromide, and placebo were administered on 3 separate days via nebulizer in the seated position. Airway responsiveness was evaluated using spirometry and impulse oscillometry 30 min post dose. Cardiovascular effects were evaluated by continuous monitoring of blood pressure, RR intervals, cardiac output, and systemic vascular resistance. Results A total of 14 patients completed the trial. Neither active agent had significant detrimental effects on heart rate or rhythm or blood pressure. Albuterol and ipratropium were similar in their bronchodilator effectiveness causing significant improvement in forced expiratory volume in 1-s (FEV1, p = 0.002 and p = 0.030). Impulse oscillometry measures were consistent with a reduction in total airway resistance post nebulization (resistance at 5 Hz p < 0.006). Conclusion Airway obstruction is pharmacologically reversible in a number of patients with FD. In the short term, both albuterol and ipratropium were well tolerated and not associated with major cardiovascular adverse events., Author(s): Bat-el Bar-Aluma [sup.1] [sup.3] , Ori Efrati [sup.1] , Horacio Kaufmann [sup.2] , Jose-Alberto Palma [sup.2] , Lucy Norcliffe-Kaufmann [sup.2] Author Affiliations: (1) Pulmonary Unit and The National Center [...]

Published
2018
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6. Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Author

Kagan, Maayan, primary, Semo-Oz, Rotem, additional, Ben Moshe, Yishay, additional, Atias-Varon, Danit, additional, Tirosh, Irit, additional, Stern-Zimmer, Michal, additional, Eliyahu, Aviva, additional, Raas-Rothschild, Annick, additional, Bivas, Maayan, additional, Shlomovitz, Omer, additional, Chorin, Odelia, additional, Rock, Rachel, additional, Tzadok, Michal, additional, Ben-Zeev, Bruria, additional, Heimer, Gali, additional, Bolkier, Yoav, additional, Gruber, Noah, additional, Dagan, Adi, additional, Bar Aluma, Bat El, additional, Pessach, Itai M., additional, Rechavi, Gideon, additional, Barel, Ortal, additional, Pode-Shakked, Ben, additional, Anikster, Yair, additional, and Vivante, Asaf, additional

Published
2023
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12. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Author

Neuser, Sonja, primary, Brechmann, Barbara, additional, Heimer, Gali, additional, Brösse, Ines, additional, Schubert, Susanna, additional, O'Grady, Lauren, additional, Zech, Michael, additional, Srivastava, Siddharth, additional, Sweetser, David A., additional, Dincer, Yasemin, additional, Mall, Volker, additional, Winkelmann, Juliane, additional, Behrends, Christian, additional, Darras, Basil T., additional, Graham, Robert J., additional, Jayakar, Parul, additional, Byrne, Barry, additional, Bar‐Aluma, Bat El, additional, Haberman, Yael, additional, Szeinberg, Amir, additional, Aldhalaan, Hesham M., additional, Hashem, Mais, additional, Al Tenaiji, Amal, additional, Ismayl, Omar, additional, Al Nuaimi, Asma E., additional, Maher, Karima, additional, Ibrahim, Shahnaz, additional, Khan, Fatima, additional, Houlden, Henry, additional, Ramakumaran, Vijayalakshmi S., additional, Pagnamenta, Alistair T., additional, Posey, Jennifer E., additional, Lupski, James R., additional, Tan, Wen‐Hann, additional, ElGhazali, Gehad, additional, Herman, Isabella, additional, Muñoz, Tatiana, additional, Repetto, Gabriela M., additional, Seitz, Angelika, additional, Krumbiegel, Mandy, additional, Poli, Maria Cecilia, additional, Kini, Usha, additional, Efthymiou, Stephanie, additional, Meiler, Jens, additional, Maroofian, Reza, additional, Alkuraya, Fowzan S., additional, Abou Jamra, Rami, additional, Popp, Bernt, additional, Ben‐Zeev, Bruria, additional, and Ebrahimi‐Fakhari, Darius, additional

Published
2021
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13. Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis [Erratum]

Author

Ashkenazi,Moshe, Sity,Saray, Sarouk,Ifat, Bar Aluma,Bat El, Dagan,Adi, Bezalel,Yael, Bentur,Lea, De Boeck,Kris, Efrati,Ori, Ashkenazi,Moshe, Sity,Saray, Sarouk,Ifat, Bar Aluma,Bat El, Dagan,Adi, Bezalel,Yael, Bentur,Lea, De Boeck,Kris, and Efrati,Ori

Abstract

Ashkenazi M, Sity S, Sarouk I, et al. J Asthma Allergy. 2018;11:101–107. On page 101, in the Conclusion section, the text “omlaizumb” should have been “omalizumab”. Read the original article.&nbsp

Published
2018

14. Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis

Author

Ashkenazi,Moshe, Sity,Saray, Sarouk,Ifat, Bar Aluma,Bat El, Dagan,Adi, Bezalel,Yael, Bentur,Lea, De Boeck,Kris, Efrati,Ori, Ashkenazi,Moshe, Sity,Saray, Sarouk,Ifat, Bar Aluma,Bat El, Dagan,Adi, Bezalel,Yael, Bentur,Lea, De Boeck,Kris, and Efrati,Ori

Abstract

Moshe Ashkenazi,1,2 Saray Sity,2 Ifat Sarouk,1,2 Bat El Bar Aluma,1,2 Adi Dagan,1,2 Yael Bezalel,1,2 Lea Bentur3 Kris De Boeck,4 Ori Efrati1,2 1Pediatric Pulmonology and National CF Center, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat Gan, Israel; 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 3Pediatric Pulmonology Institute, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa, Israel; 4Pediatric Pulmonology, Department of Pediatrics, University of Leuven, Leuven, Belgium Background: Allergic bronchopulmonary aspergillosis (ABPA) is a condition characterized by a Th2 response, serum eosinophilia, and increased total serum IgE to Aspergillus fumigatus. ABPA occurs in cystic fibrosis (CF) and asthma. Omalizumab is a humanized recombinant monoclonal antibody against IgE. Previous studies reported borderline results when treating ABPA with omalizumab. Methods: A retrospective study to investigate the efficacy of omalizumab in the treatment of ABPA in CF patients was conducted at 3 CF centers in Israel and Belgium. Data were obtained from the digital archive. We measured 4 outcome parameters: forced expiratory volume in 1 second, body mass index, pulmonary exacerbations, and steroid sparing. Results: The database was composed on the records of 9 patients. None of the outcome parameters showed any improvement. A favorable outcome was observed in patients with higher levels of posttreatment total IgE than those with lower levels. CF-related diabetes and male gender showed trends for poorer outcomes. Conclusion: No benefits were detected on treating ABPA in CF with omlaizumb. Monitoring the total IgE was not helpful. A prospective randomized double-blind study is needed. Keywords: ABPA, Omalizumab, CF, IgEErratum for this paper has been published.

Published
2018

19. Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

Author

Behar, Doron M., primary, Inbar, Ori, additional, Shteinberg, Michal, additional, Gur, Michal, additional, Mussaffi, Huda, additional, Shoseyov, David, additional, Ashkenazi, Moshe, additional, Alkrinawi, Soliman, additional, Bormans, Concetta, additional, Hakim, Fahed, additional, Mei-Zahav, Meir, additional, Cohen-Cymberknoh, Malena, additional, Dagan, Adi, additional, Prais, Dario, additional, Sarouk, Ifat, additional, Stafler, Patrick, additional, Bar Aluma, Bat El, additional, Akler, Gidon, additional, Picard, Elie, additional, Aviram, Micha, additional, Efrati, Ori, additional, Livnat, Galit, additional, Rivlin, Joseph, additional, Bentur, Lea, additional, Blau, Hannah, additional, Kerem, Eitan, additional, and Singer, Amihood, additional

Published
2017
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21. A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia.

Author

Efrati, Ori, Bar-Aluma, Bat-el, Kaufmann, Horacio, Palma, Jose-Alberto, and Norcliffe-Kaufmann, Lucy

Subjects
*BRONCHODILATOR agents, *DYSAUTONOMIA, *ALBUTEROL, *IPRATROPIUM (Drug), *RESPIRATORY obstructions
Abstract

Background: Chronic lung disease is a leading cause of premature death in patients with familial dysautonomia (FD). A significant number of patients have obstructive airway disease, yet it is not known whether this is pharmacologically reversible.Methods: We conducted a double-blind, placebo-controlled, randomized clinical trial comparing the beta 2 agonist albuterol with the muscarinic blocker ipratropium bromide in patients homozygous for the IKBKAP founder mutation. Albuterol, ipratropium bromide, and placebo were administered on 3 separate days via nebulizer in the seated position. Airway responsiveness was evaluated using spirometry and impulse oscillometry 30 min post dose. Cardiovascular effects were evaluated by continuous monitoring of blood pressure, RR intervals, cardiac output, and systemic vascular resistance.Results: A total of 14 patients completed the trial. Neither active agent had significant detrimental effects on heart rate or rhythm or blood pressure. Albuterol and ipratropium were similar in their bronchodilator effectiveness causing significant improvement in forced expiratory volume in 1-s (FEV1, p = 0.002 and p = 0.030). Impulse oscillometry measures were consistent with a reduction in total airway resistance post nebulization (resistance at 5 Hz p < 0.006).Conclusion: Airway obstruction is pharmacologically reversible in a number of patients with FD. In the short term, both albuterol and ipratropium were well tolerated and not associated with major cardiovascular adverse events. [ABSTRACT FROM AUTHOR]

Published
2018
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22. Familial Dysautonomia

Author

Bar-Aluma BE, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, and Amemiya A

Abstract

Clinical Characteristics: Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased., Diagnosis/testing: The diagnosis of familial dysautonomia is established in a proband with suggestive findings and biallelic pathogenic variants in ELP1 (formerly IKBKAP ) identified by molecular genetic testing., Management: Treatment of manifestations : Affected individuals are often managed by multidisciplinary specialists that include neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, speech-language pathologists, pulmonologists, cardiologists, nephrologists, ophthalmologists, dentists and dental hygienists, and social workers. Feeding teams manage neurogenic dysphagia; mental health professionals treat anxiety. Surveillance : Routine monitoring of the following: weight, nutrition, safety of oral feeding, developmental/educational progress, mental status, pulmonary function, sleep-disordered breathing, frequency and severity of dysautonomic crises, blood pressure lability, vision and low vision needs, ataxia and activities of daily living, spine for scoliosis, dental care and needs; assessment of caregiver needs. Agents/circumstances to avoid : The following can exacerbate symptoms: hot or humid weather; full bladder. Pregnancy management : Pregnancies in women with FD are considered high risk because of blood pressure lability. Visceral pain related to contractions during labor is perceived normally; therefore, analgesia should be provided., Genetic Counseling: Familial dysautonomia is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an ELP1 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the ELP1 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible. Carrier screening is available on a population basis for individuals of Ashkenazi Jewish heritage., (Copyright © 1993-2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.)

Published
1993

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