Explanipedia

The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions Open

Rebecca J. Brown, Barış Akıncı, Saif Al-Yaarubi, Élise Bismuth, Marco Cappa , et al. · 2025

Introduction Lipodystrophy syndromes comprise a group of rare endocrine disorders characterized by the generalized or partial loss of adipose tissue. Affected individuals frequently display absolute or relative reductions in leptin, a key …

A rapid action plan to improve diagnosis and management of lipodystrophy syndromes Open

Lindsay T. Fourman, Josivan Gomes Lima, Vinaya Simha, Marco Cappa, Saif Al-Yaarubi , et al. · 2024

Introduction Lipodystrophy syndromes are rare diseases that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage…

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

Saif Al-Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir , et al. · 2024

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 a…

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4 Open

Gülçin Akıncı, Saif Al-Yaarubi, Nivedita Patni, Nadia Alhashmi, Azza Al‐Shidhani , et al. · 2024

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra‐rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null vari…

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa Open

Abdullah Al‐Ashwal, Afaf Alsagheir, Mohammed Al Dubayee, Mutaz Al-Khnifsawi, Ahmed Al-Sarraf , et al. · 2023

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LD…

Effect of Hydroxyurea Therapy on Growth Parameters in Older Children (6-15 Year-Old) with Sickle Cell Disease: Low Dose Versus High Dose Open

Doaa Khater, Sharef Al‐Mulaabed, Abeer Alomairi, Mohamed Elshinawy, Ashraf Soliman , et al. · 2023

Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and response. This is a prospective study conducte…

Lessons Learned From COVID-19 Lockdown: An ASPED/MENA Study on Lifestyle Changes and Quality of Life During Ramadan Fasting in Children and Adolescents Living With Type 1 Diabetes Open

Amir Babiker, Nancy Samir Elbarbary, Bothainah Alaqeel, Khalid Al Noaim, Saif Al-Yaarubi , et al. · 2023

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (Qo…

Circadian Rhythm, Sleep, and Immune Response and the Fight against COVID-19 Open

Mohammed Al-Abri, Saif Al-Yaarubi, Elias A. Said · 2022

Sleep is an imperative physiological aspect that plays a vital role in maintaining hormonal and humeral functions of the body and hence a healthy life. Circadian rhythms are daily oscillations in human activities and physiology that prepar…

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman Open

Khalid Al‐Rasadi, Khalid Al‐Rasadi, Muna Al-Bulushi, Mohammed Habais, Abdullah Al-Mujaini , et al. · 2022

Familial hypertriglyceridemia (F-HTG) is an autosomal disorder that causes severe elevation of serum triglyceride levels. It is caused by genetic alterations in LPL , APOC2 , APOA5 , LMF1 , and GPIHBP1 genes. The mutation spectrum of F-HTG…

Monitoring of Adrenal Functions Amid the COVID-19 Pandemic: Lessons From Pediatric Leukemia Open

Doaa Khater, Saif Al-Yaarubi, Naji Al Dhawi, Irfan Ullah, Ashraf Abdullah Saad , et al. · 2022

Patients' Perception of the Use of the EasyPod™ Growth Hormone Injector Device and Impact on Injection Adherence: A Multi-Center Regional Study Open

Asma Deeb, Saif Al-Yaarubi, Bassam Bin Abbas, Jamal Al Jubeh, Deepti Chaturvedi , et al. · 2022

Objective This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance. Methods This cross-sectional, multicenter study was conducted in six centers from three…

The Association of Human Leukocyte Antigens Complex with Type 1 Diabetes in the Omani Population Open

Mohammed S. Al‐Balushi, Samiya Al-Badi, Saif Al-Yaarubi, Hamad Al‐Riyami, Azza Al‐Shidhani , et al. · 2022

Known HLA class II gene alleles are associated with T1D in Omani children.

AACE2021-A-1064: A 10-Year Non-Interventional Registry of Patients with Fibroblast Growth Factor 23-Related Hypophosphatemic Rickets and Osteomalacia in the Gulf Region Open

Mohammed Al-Dubayee, Salwa Al Aidarous, Fahad Al Juraibah, Saif Al-Yaarubi, Hessa Alkandari , et al. · 2021

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination Open

Azza Al Shidhani, Fathiya Al Murshedi, Saif Al-Yaarubi, Khalid Al Thihli, Irfan Ullah · 2021

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this …

Use of continuous glucose monitoring trend arrows in the younger population with type 1 diabetes Open

Nancy Samir Elbarbary, Othmar Moser, Saif Al-Yaarubi, Hussain Alsaffar, Adnan Al Shaikh , et al. · 2021

Early control of glycaemia is key to reduce vascular complications in individuals with Type 1 diabetes. Therefore, encouraging children and adolescents with T1DM to take responsibility for controlling glucose levels is an important yet a c…

Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa Open

Azza Al Shidhani, Irfan Ullah, Hussain Alsaffar, Adila Al Kindi, Hameeda Al Nabhani , et al. · 2021

The physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been ex…

Abstracts from the 7th AACE Gulf Chapter Annual Meeting, Muscat, Oman 1-3 November, 2019 Open

Imad Brema, Muawiyah Hamza, Benjamin Bradley, Abdullah Aljurian, Alaa Algurashi , et al. · 2020

© 2020. Gulf Association of Endocrinology and Diabetes (GAED). All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copy…

Obesity and the Warning Trends Open

Saif Al-Yaarubi · 2019

An ICET-A survey on occult and emerging endocrine complications in patients with β-thalassemia major: Conclusions and recommendations. Open

Vincenzo De Sanctis, Ashraf Soliman, Duran Canatan, Ploutarchos Tzoulis, Shahina Daar , et al. · 2019

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been repo…

Short Synacthen Test for Children at Sultan Qaboos University Hospital; Reviewing the sampling times Open

Hussain Alsaffar, Mohammed Alshafey, Irfan Ullah, Nafila Al-Riyami, Saif Al-Yaarubi , et al. · 2019

An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report. Open

Vincenzo De Sanctis, Ashraf Soliman, Duran Canatan, Heba Elsedfy, Mehran Karimi , et al. · 2018

Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainl…

Erratum. Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322 Open

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Samir Elbarbary , et al. · 2018

This erratum is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.

Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes Open

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Samir Elbarbary , et al. · 2017

Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients’ prognosis an…

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ Open

Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah , et al. · 2016

CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie …

Accrediting the MD Programme in Sultan Qaboos University: Process, Earned Benefits, and Lessons Learned Open

Sulayma Albarwani, Muna Al Saadoon, Omar A Al-Rawas, Saif Al-Yaarubi, Rashid Al-Abri , et al. · 2015

The MD Programme of the College of Medicine and Health Sciences, Sultan Qaboos University, has been accredited recently. The College has been preparing for this event for more than ten years and wishes to share its experience with other re…

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta Open

Khalfan S. Al-Senaidi, Irfan Ullah, Hashim Javad, Murtadha Al‐Khabori, Saif Al-Yaarubi · 2015

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta Open

Khalfan S. Al-Senaidi, Irfan Ullah, Hashim Javad, Murtadha Al‐Khabori, Saif Al-Yaarubi · 2015

Children with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel …

Rigid Spine Syndrome among Children in Oman Open

Roshan Koul, Dilip Sankhla, Suad Al-Jahdhami, Renjith Mani, Rana A. Rahim , et al. · 2015

RSS is a rare disease with only 12 reported cases found at SQUH during the study period. Cases of primary RSS should be differentiated from the secondary type.

Preventing the Future Pandemic of Diabetes Mellitus in Oman Open

Saif Al-Yaarubi, Azza Al-Shidani, Sumaya Habib · 2015

Diabetes mellitus is currently one of the most challenging public health problems worldwide. With a marked increase in its prevalence, it is reaching epidemic proportions in many countries.1 Globally, the diabetes rate has risen by 45% ove…

Preventing the Future Pandemic of Diabetes Mellitus in Oman Open

Saif Al-Yaarubi, Azza Al-Shidani, Sumaya Habib · 2015

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