Search Results - "Hamad, Muddathir"

Vitamin D supplementation to prevent vitamin D deficiency for children with epilepsy: Randomized pragmatic trial protocol by Khalifah, Reem Al, Hudairi, Abrar, Homyani, Doua Al, Hamad, Muddathir H., Bashiri, Fahad A.

“…Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of high-quality evidence led to variability among scientific societies…”
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International alliance and AGREE-ment of 71 clinical practice guidelines on the management of critical care patients with COVID-19: a living systematic review by Amer, Yasser S., Titi, Maher A., Godah, Mohammad W., Wahabi, Hayfaa A., Hneiny, Layal, Abouelkheir, Manal Mohamed, Hamad, Muddathir H., ElGohary, Ghada Metwally, Hamouda, Mohamed Ben, Ouertatani, Hella, Velasquez-Salazar, Pamela, Acosta-Reyes, Jorge, Alhabib, Samia M., Esmaeil, Samia Ahmed, Fedorowicz, Zbys, Zhang, Ailing, Chen, Zhe, Liptrott, Sarah Jayne, Frungillo, Niccolò, Jamal, Amr A., Almustanyir, Sami A., Dieyi, Newman Ugochukwu, Powell, John, Hon, Katrina J., Alzeidan, Rasmieh, Azzo, Majduldeen, Zambrano-Rico, Sara, Ramirez-Jaramillo, Paulina, Florez, Ivan D.

“…We aimed to systematically identify and critically assess the clinical practice guidelines (CPGs) for the management of critically ill patients with COVID-19…”
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Appraisal of clinical practice guidelines for the management of attention deficit hyperactivity disorder (ADHD) using the AGREE II Instrument: A systematic review by Amer, Yasser Sami, Al-Joudi, Haya Faisal, Varnham, Jeremy L, Bashiri, Fahad A, Hamad, Muddathir Hamad, Al Salehi, Saleh M, Daghash, Hadeel Fakhri, Albatti, Turki Homod

“…High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and positive outcomes. The…”
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An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families by Koko, Mahmoud, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL‐Amin, Melka, Esteves, Typhaine, Altmüller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nürnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger, Stevanin, Giovanni

“…PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop‐gain PRUNE1 variants were…”
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Appraisal of clinical practice guidelines for the management of attention deficit hyperactivity disorder by Amer, Yasser Sami, Al-Joudi, Haya Faisal, Varnham, Jeremy L, Bashiri, Fahad A, Hamad, Muddathir Hamad, Al Salehi, Saleh M, Daghash, Hadeel Fakhri, Albatti, Turki Homod

“…Background and objective High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and…”
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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of…”
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Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study by Alsini, Hanin, Alghamdi, Abdulaziz, Alshafi, Shatha, Hundallah, Khalid, Almehmadi, Sameer, Alsowat, Daad, Al-Yamani, Suad, Almuzaini, Hanin, Alwadie, Ali, Al-Otaibi, Ali, Jad, Lamyaa, Almadhi, Asma, Bashiri, Fahad, Kentab, Amal, Hamad, Muddathir H, Baarmah, Duaa, Alrifaie, Mohammed, Almuqbel, Mohammed, Baradie, Raidah Al, Mir, Ali, Jan, Mohammed, Muthaffar, Osama, Aljabri, Mohammed, Ali, Elsayed, Saeed, Mohammed, Matar, Abeer, Tabarki, Brahim

“…•We evaluated the electro clinical characteristics of the Saudi Arabian children with D/EE-SWAS and compared their treatment outcomes.•The most prevalent…”
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The natural history of infantile neuroaxonal dystrophy by Altuame, Fadie D, Foskett, Gretchen, Atwal, Paldeep S, Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A, Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S

“…Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic…”
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Vitamin D Supplementation for Children with Epilepsy on Antiseizure Medications: A Randomized Controlled Trial by Bashiri, Fahad A, Hudairi, Abrar, Hamad, Muddathir H, Al-Sulimani, Lujain K, Al Homyani, Doua, Al Saqabi, Dimah, Kentab, Amal Y, Al Khalifah, Reem A

“…Antiseizure medications (ASMs) are crucial for managing epilepsy in children. However, a well-documented side effect of ASMs is their impact on bone health,…”
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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) by Seidahmed, Mohammed Z, Hamad, Muddathir H, AlBakheet, Albandary, Elmalik, Salah A, AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M, Colak, Dilek, Salih, Mustafa A, Kaya, Namik

“…Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family…”
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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient by Alsagob, Maysoon, Salih, Mustafa A, Hamad, Muddathir H A, Al-Yafee, Yusra, Al-Zahrani, Jawaher, Al-Bakheet, Albandary, Nester, Michael, Sakati, Nadia, Wakil, Salma M, AlOdaib, Ali, Colak, Dilek, Kaya, Namik

“…15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with…”
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Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia by Kentab, Amal Y, Alsalloum, Yara, Labani, Mai, Hudairi, Abrar, Hamad, Muddathir H, Jamjoom, Dima Z, Alwadei, Ali H, Alhammad, Reem M, Bashiri, Fahad A

“…Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin…”
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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy by Al Khalifah, Reem, Hamad, Muddathir H, Hudairi, Abrar, Al-Sulimani, Lujain K, Al Homyani, Doua, Al Saqabi, Dimah, Bashiri, Fahad A

“…Vitamin D has a role in the pathogenesis of many medical disorders, especially those of the central nervous system. It is essential in maintaining the bone…”
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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome by Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih

“…Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including…”
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Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital by Bashiri, Fahad A, AlSheikh, Rawan, Hamad, Muddathir H, Alsheikh, Hamad, Alsheikh, Rana Abdullah, Kentab, Amal, AlTheeb, Najd, Alghamdi, Malak

“…Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize…”
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Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center by Bashiri, Fahad A., Al dosari, Abdullah, Hamad, Muddathir H., Kentab, Amal Y., Alwadei, Ali H.

“…To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia. This retrospective study…”
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Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies by Salih, Mustafa A, Hamad, Muddathir H, Savarese, Marco, Alorainy, Ibrahim A, Al-Jarallah, Abdullah S, Alkhalidi, Hisham, AlQudairy, Hanan, Albader, Anoud, Alotaibi, Amal Jahz, Alsagob, Maysoon, Al-Bakheet, Albandary, Colak, Dilek, Udd, Bjarne, Kaya, Namik

“…Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families. Whole-exome sequencing, autozygosity mapping, and…”
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Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center by Kentab, Amal Y, Al Bulayhi, Shumukh, Hamad, Muddathir H, Al Wadei, Ali, Bashiri, Fahad A

“…To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification. A…”
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The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan by Saha, Madhurima, Reddy, Hemakumar M, Salih, Mustafa, Estrella, Elicia, Jones, Michael D, Mitsuhashi, Satomi, Cho, Kyung-Ah, Suzuki-Hatano, Silveli, Rizzo, Skylar A, Hamad, Muddathir H, Mukhtar, Maowia M, Hamed, Ahlam A, Elseed, Maha A, Lek, Monkol, Valkanas, Elise, MacArthur, Daniel G, Kunkel, Louis M, Pacak, Christina A, Draper, Isabelle, Kang, Peter B

“…Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps…”
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