Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation

Autor: Kamel T. Abidi, Naglaa M. Kamal, Ayman A. Bakkar A., Maram Alotaibi, Haifa Asseri, Kawthar A. Bokari

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Abstract Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability. Methods We report a seven‐years‐old fem

Externí odkaz: https://doaj.org/article/6a62e44c07444112946fabe035096b28

Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report

Autor: Jwaher M. Althobiti, Abdulaziz Alsaedi, Naglaa M. Kamal, Ayman A. Bakkar

Publikováno v: Medicine

Rationale: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy that can cause permanent brain damage. Consequently, optimal management is extremely important. Current pharmacologic and surgical treatment we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eddd0f59d789459f9c1f019606878de
https://pubmed.ncbi.nlm.nih.gov/28984754

Idiopathic hypoparathyroidism with extensive intracranial calcification in children

Autor: Abdulla A. Alharthi, Hamed A. Alghamdi, Abdulrahman Halabi, Ayman A. Bakkar, Abdullah Al-Harbi, Naglaa M. Kamal, Rawan A Alharbi, Laila M. Sherief, Ali Algarni

Publikováno v: Medicine. 96:e6347

Rationale Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide. Patient concerns An 11-year-old Saudi male child presented with tetany wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d37778572616f9bc9be8228bca0d6f40
https://doi.org/10.1097/md.0000000000006347

The Impact of COVID-19 Pandemic Lockdown on the Incidence of New-Onset Type 1 Diabetes and Ketoacidosis Among Saudi Children.

Autor: Alaqeel A; Department of Pediatrics, College of Medicine, Qassim University, Buraidah, Saudi Arabia., Aljuraibah F; Pediatric Department, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia., Alsuhaibani M; Department of Pediatrics, College of Medicine, Qassim University, Buraidah, Saudi Arabia., Huneif M; Department of Pediatrics, College of Medicine, Najran University, Najran, Saudi Arabia., Alsaheel A; Pediatric Endocrine Department, Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia., Dubayee MA; Pediatric Department, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia., Alsaedi A; Al Hada Armed Forces Hospital, Pediatric Department, Pediatric Endocrine Division, Taif, Saudi Arabia., Bakkar A; Al Hada Armed Forces Hospital, Pediatric Department, Pediatric Endocrine Division, Taif, Saudi Arabia., Alnahari A; Diabetes and Endocrinology Center, King Fahad Central Hospital in Jizan, Jizan, Saudi Arabia., Taha A; Pediatric Endocrinology Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alharbi K; Pediatric Department, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Taibah University, Madinah, Saudi Arabia., Alanazi Y; Pediatric Department, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Majmaah University, Majmaah, Saudi Arabia., Almadhi S; Pediatric Endocrine Department, Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia., Khalifah RA; Pediatric Endocrinology Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Apr 01; Vol. 12, pp. 669302. Date of Electronic Publication: 2021 Apr 01 (Print Publication: 2021).