Výsledky vyhledávání - "Alsagheir, A."

Akademický článek

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study

Autor: Abdullah Al-Ashwal, Manal AlHelal, Afaf AlSagheir, Areej Alfattani, Khushnooda Ramzan, Faiqa Imtiaz, Raghad Alhuthil

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

IntroductionFamilial chylomicronemia syndrome (FCS) is a severe type of hypertriglyceridemia (HTG). Despite its rarity, we have encountered more than 100 patients with FCS at our center. Therefore, we aimed to provide a useful resource for clinicians

Externí odkaz: https://doaj.org/article/df28a636038c4e3f891807e7216efc59

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Akademický článek

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation

Autor: Noha Mukhtar, Balgees Alghamdi, Meshael Alswailem, Afaf Alsagheir, Ali S. Alzahrani

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

IntroductionSo far, only 11 PTH mutations have been described as causes of familial isolated hypoparathyroidism (FIH). In this report, we describe a family with FIH but with significant elevation of functionally inactive PTH due to a PTH mutation. We

Externí odkaz: https://doaj.org/article/eada220240c4433c9633539c60dbad3e

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Akademický článek

Graves’ disease thyroid dermopathy: a case report

Autor: Loay Tashkandi, Afaf Alsagheir, Saud Alobaida, Raghad Alhuthil

Publikováno v: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)

Abstract Background Graves’ disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves’ disease are multisystemic and include thyroid orbitopathy; pretibial myxed

Externí odkaz: https://doaj.org/article/3b4aee17c38a416e8095f051facd83a8

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Akademický článek

Graves' disease thyroid dermopathy: a case report.

Autor: Tashkandi, Loay¹ (AUTHOR), Alsagheir, Afaf² (AUTHOR) ASagheir@kfshrc.edu.sa, Alobaida, Saud³ (AUTHOR), Alhuthil, Raghad² (AUTHOR)

Publikováno v: Journal of Medical Case Reports. 4/7/2024, Vol. 18 Issue 1, p1-5. 5p.

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Akademický článek

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)

Abstract Background Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have ana

Externí odkaz: https://doaj.org/article/75ef611592ac46869fbc423ec526ad5f

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Akademický článek

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia

Autor: Afaf Alsagheir, Abdullah Al-Ashwal, Amal Binladen, Raghad Alhuthil, Faisal Joueidi, Khushnooda Ramzan, Faiqa Imtiaz

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

IntroductionHereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). This study aims to evaluate phenotype and genotype char

Externí odkaz: https://doaj.org/article/fae8c54f7b1844598ccccd5b82461701

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Akademický článek

Information needs on type 1 diabetes mellitus (T1DM) and its management in children and adolescents: a qualitative study

Autor: Noraida Mohamed Shah, Sasha Muhammed Elamin, Nur Fitrah Muhamad Arshad, Adyani Md Redzuan, Siti Azdiah Abdul Aziz, Joyce Hong, Xin Yun Chua, Bassam Saleh Bin-Abbas, Afaf Alsagheir

Publikováno v: BMJ Open, Vol 14, Iss 4 (2024)

Objective The objective of this study is to explore the information needs related to insulin therapy in children and adolescents with type 1 diabetes mellitus (T1DM) from the children’s perspectives as well as their caregivers.Design Qualitative st

Externí odkaz: https://doaj.org/article/8334ecc4acd54495b588607455e88b97

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Akademický článek

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Autor: Al Yaarubi, Saif¹ (AUTHOR) alyaarubica@gmail.com, Alsagheir, Afaf² (AUTHOR), Al Shidhani, Azza³ (AUTHOR), Alzelaye, Somaya⁴ (AUTHOR), Alghazir, Nadia⁵ (AUTHOR), Brema, Imad⁶ (AUTHOR), Alsaffar, Hussain³ (AUTHOR), Al Dubayee, Mohammed^7,8,9 (AUTHOR), Alshahrani, Awad^7,8,9 (AUTHOR), Abdelmeguid, Yasmine¹⁰ (AUTHOR), Omar, Omneya M.¹⁰ (AUTHOR), Attia, Najya¹¹ (AUTHOR), Al Amiri, Elham¹² (AUTHOR), Al Jubeh, Jamal¹³ (AUTHOR), Algethami, Albandari¹⁴ (AUTHOR), Alkhayyat, Haya¹⁵ (AUTHOR), Haleem, Azad¹⁶ (AUTHOR), Al Yahyaei, Mouza¹⁷ (AUTHOR), Khochtali, Ines¹⁸ (AUTHOR), Babli, Saleha¹⁹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 3/13/2024, Vol. 19 Issue 1, p1-15. 15p.

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Akademický článek

Demographic, Clinical, and Biomedical Profile of Diabetic Patients Receiving Home Healthcare in Saudi Arabia

Autor: Lamya M. Alzubaidi, Aeshah I. Alsagheir, Muna H Hassanein, Rawah M Khalifa, Ibrahim K Luttfi

Publikováno v: International Journal of Biomedicine, Vol 13, Iss 4, Pp 323-328 (2023)

Background: Identifying characteristics of diabetic patients receiving home healthcare will help in designing services that respond to their conditions and improve their health status and quality of life. The aim of this study was to describe the dem

Externí odkaz: https://doaj.org/article/8ee22e3315b04256b87fbafaa7c3d17d

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