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22 results on '"Al Twaijri, Waleed"'

1. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Author

Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah, Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, and Faqeih, Eissa A.

Published
2024
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2. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Author

Saleh, Mohammed M., primary, Hamhom, Abdulrahim M., additional, Al-Otaibi, Ali, additional, AlGhamdi, Malak, additional, Housawi, Yousef, additional, Aljadhai, Yaser I., additional, Alameer, Seham, additional, Almannai, Mohammed, additional, Jad, Lamyaa A., additional, Alwadei, Ali H., additional, Tabassum, Sadia, additional, Alsaman, Abdulaziz, additional, AlAsmari, Ali, additional, Al Mutairi, Fuad, additional, Althiyab, Hamad, additional, Bashiri, Fahad A., additional, AlHumaidi, Suzan, additional, Alfadhel, Majid, additional, Mink, Jonathan W., additional, AlHashim, Aqeela, additional, Faqeih, Eissa A., additional, Kentab, Amal, additional, Muddathir, H.H., additional, Salih, M.A., additional, Mushiba, Aziza M., additional, Zada, A.P., additional, Bamajboor, Mohammed S., additional, Zameer, Sadique, additional, AlBassam, Fahad, additional, Mahmoud, Adel, additional, Alnawfal, A.A., additional, AlAmr, Mushari, additional, Bawazir, Maryam, additional, Al Rumayyan, Ahmed, additional, Al-Twaijri, Waleed, additional, Alrifai, Muhammed Talal, additional, and Al Hajjaj, Sumayah, additional

Published
2024
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5. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Author

Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, and Zada, Abdul Ali Peer

Published
2017
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7. Effect of melatonin in children with neurodevelopmental disabilities and sleep disorders.

Author

Al Twaijri, Waleed, Armah, Dua′a, Sabbar, Najla, Aldebasi, Tariq, Shaheen, Naila, Al Bekairy, Abdul, and Al-Jeraisy, Majed

Subjects
*CHILDREN with disabilities, *SLEEP disorders, *SLEEP quality, *MELATONIN, *PEDIATRIC neurology, *PEDIATRIC clinics
Abstract

Objectives: The aim of this study is to assess the efficacy and side effects of melatonin use in a population of children with neurodevelopmental disabilities who had sleep disorders. Methods: This is a cross-sectional study conducted in the pediatric neurology clinic at King Abdulaziz Medical City. A designed questionnaire was given to the parents to inquire about the sleep characteristics of their children before and after using melatonin. The patients' demographic data were collected and different parameters before and after starting melatonin were compared. Categorical variables were summarized and reported in terms of frequency and percent (n%). Continuous variables were reported in terms of mean and standard deviation. Results: A total of 23 patients were enrolled in our study, of which 15 (65.22%) were male. The mean age was 5.83 ± 3.07 years. For melatonin dose, 9 (39.13%) received 1 mg, 8 (34.78%) received 2 mg, and 6 (26.09%) received over 3 mg. Regarding melatonin duration of use, 7 (30.43%) received melatonin for 0 to 6 months, 7 (30.43%) received it for 7 to 12 months, and 9 (39.13%) received it for over a year. Significant differences were observed in time taken to fall asleep (P =0.046), the number of times the child woke up at night (P =0.071), total sleep time within 24 hours (P =.011), and time taken to wake up (P =.007), while no significant difference was observed in the number of naps taken during the daytime (P =.801). There were no major side effects reported. Conclusion: Melatonin had a significant impact on total sleep time and quality during the pre and post assessment of children with neurodevelopmental disabilities and sleep disorders. [ABSTRACT FROM AUTHOR]

Published
2022
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8. Pediatric intracranial hypertension

Author

Bashiri, Fahad A., primary, Al Abdulsalam, Hissah K., additional, Hassan, Saeed M., additional, Al Twaijri, Waleed A., additional, Almalki, Fuad I., additional, Kentab, Amal Y., additional, Hamad, Muddathir H., additional, Alwadei, Ali H., additional, Al-Showaeir, Daniah A., additional, Altweijri, Ikhlass S., additional, Aldabjan, Haifa M., additional, Aldegether, Moudi S., additional, Albakr, Abdulrahman A., additional, Alhothali, Wajda M., additional, Ajlan, Abdulrazag M., additional, Hassan, Hamdy H., additional, and Salih, Mustafa A., additional

Published
2019
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14. Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia

Author

Bashiri, Fahad A., primary, Hamad, Muddathir H., additional, Amer, Yasser S., additional, Abouelkheir, Manal M., additional, Mohamed, Sarar, additional, Kentab, Amal Y., additional, Salih, Mustafa A., additional, Nasser, Mohammad N. Al, additional, Al-Eyadhy, Ayman A., additional, Othman, Mohammed A. Al, additional, Al-Ahmadi, Tahani, additional, Iqbal, Shaikh M., additional, Somily, Ali M., additional, Wahabi, Hayfaa A., additional, Hundallah, Khalid J., additional, Alwadei, Ali H., additional, Albaradie, Raidah S., additional, Al-Twaijri, Waleed A., additional, Jan, Mohammed M., additional, Al-Otaibi, Faisal, additional, Alnemri, Abdulrahman M., additional, and Al-Ansary, Lubna A., additional

Published
2017
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15. Pediatric intracranial hypertension: Experience from 2 Tertiary Centers.

Author

Bashiri, Fahad A., Al Abdulsalam, Hissah K., Hassan, Saeed M., Al Twaijri, Waleed A., Almalki, Fuad I., Kentab, Amal Y., Hamad, Muddathir H., Alwadei, Ali H., Al-Showaeir, Daniah A., Altweijri, Ikhlass S., Aldabjan, Haifa M., Aldegether, Moudi S., Albakr, Abdulrahman A., Alhothali, Wajda M., Ajlan, Abdulrazag M., Hassan, Hamdy H., and Salih, Mustafa A.

Subjects
INTRACRANIAL hypertension, VITAMIN D deficiency, DISEASE complications
Abstract

Copyright of Neurosciences is the property of Neurosciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019
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16. Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Author

Trujillano, Daniel, primary, Bertoli-Avella, Aida M, additional, Kumar Kandaswamy, Krishna, additional, Weiss, Maximilian ER, additional, Köster, Julia, additional, Marais, Anett, additional, Paknia, Omid, additional, Schröder, Rolf, additional, Garcia-Aznar, Jose Maria, additional, Werber, Martin, additional, Brandau, Oliver, additional, Calvo del Castillo, Maria, additional, Baldi, Caterina, additional, Wessel, Karen, additional, Kishore, Shivendra, additional, Nahavandi, Nahid, additional, Eyaid, Wafaa, additional, Al Rifai, Muhammad Talal, additional, Al-Rumayyan, Ahmed, additional, Al-Twaijri, Waleed, additional, Alothaim, Ali, additional, Alhashem, Amal, additional, Al-Sannaa, Nouriya, additional, Al-Balwi, Mohammed, additional, Alfadhel, Majid, additional, Rolfs, Arndt, additional, and Abou Jamra, Rami, additional

Published
2016
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18. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Author

Alfadhel, Majid, primary, Almuntashri, Makki, additional, Jadah, Raafat H, additional, Bashiri, Fahad A, additional, Al Rifai, Muhammad, additional, Al Shalaan, Hisham, additional, Al Balwi, Mohammed, additional, Al Rumayan, Ahmed, additional, Eyaid, Wafaa, additional, and Al-Twaijri, Waleed, additional

Published
2013
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19. Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Author

Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, and Abou Jamra, Rami

Abstract

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified. WES enabled timely diagnosing of genetic diseases, validation of causality of specific genetic disorders of PTPN23, KCTD3, SCN3A, PPOX, FRMPD4, and SCN1B, and setting dual diagnoses by detecting two causative variants in distinct genes in the same patient. We observed a better diagnostic yield in consanguineous families, in severe and in syndromic phenotypes. Our results suggest that WES has a better yield in patients that present with several symptoms, rather than an isolated abnormality. We also validate the clinical benefit of WES as an effective diagnostic tool, particularly in nonspecific or heterogeneous phenotypes. We recommend WES as a first-line diagnostic in all cases without a clear differential diagnosis, to facilitate personal medical care.

Published
2017
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