Prevalence of Gaucher Disease in Patients of Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia

Rationale: Gaucher disease (GD) is the most common amongst the lysosomal storage disorders. Prevalence of GD in Saudi Arabia is not available in published literature and it is expected to be high and remains undiagnosed. In 2004, a Saudi study reported that GD accounts for 6% of all genetic metabolic disorders. While acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder with no clear data about its incidence in Saudi Arabia. Consequently, this study proposes to determine the prevalence of GD and ASMD in outpatient settings in Saudi Arabia by screening patients with unknown causes of splenomegaly and/or thrombocytopenia. These data will change the local practice and increase the awareness towards GD and ASMD in Saudi Arabia. Objectives: To determine the prevalence of GD in high risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause) and describe their characteristics. We also aim to determine the prevalence of ASMD in high risk group. Methods: A multi-center, observational, study will be conducted in 25 specialty care centres across Saudi Arabia, these centres are mainly focusing on pediatric hematology, adult hematology and hemato-pathology. Female or male patients (aged 2-75 years) will deemed eligible if they have clinical, instrumental or laboratory signs of splenomegaly or thrombocytopenia over a period of 12 months without definitive cause. These patients will be tested for acid β-glucosidase and acid sphingomyelinase enzymes activity on dried blood spot (DBS) samples. Patients with hematological malignancies, hemolytic anemia, and/or thalassemia (except sickle cell disease) will be excluded. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. All patient data will be collected in a single visit. Each enrolled patient will visit the investigator for a baseline visit. The investigator will contact them later for sharing the investigation blood test results. During the baseline visit, data and blood sample for enzyme tests and genotyping will be collected by the investigator/designated person at the site. Discussion: Arab world represents one of the leading regions in terms of the incidence of congenital and genetic disorders; a growing body of published literature reported a notable trends towards higher incidence of congenital and genetic diseases, compared to other parts of the world(1). High consanguinity rates which reach up to 60% in some regions, high prevalence of haemoglobinopathies and metabolic disorders, relatively high maternal and parental age, and lack of proper genetic screening were reported as contributing factors for this high prevalence of genetic disorders in the Arab world(1-3). In Saudi Arabia, the situation appears to be no different as previous retrospective studies showed a relatively high incidence of genetic diseases such as inborn error of metabolism. The data of the present study will change the local practice and increase the awareness towards GD and ASMD in Saudi Arabia. References: Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ [Internet]. 2006 Oct 21 [cited 2019 Jun 29];333(7573):831-4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17053236 Al-Gazali LI, Alwash R, Abdulrazzaq YM. United Arab Emirates: Communities and Community Genetics. Public Health Genomics [Internet]. 2005 [cited 2019 Jun 29];8(3):186-96. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16113536 Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome in Qatar. Clin Genet [Internet]. 2006 Mar 30 [cited 2019 Jun 29];69(4):360-2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16630172 Disclosures No relevant conflicts of interest to declare.

Download Full-text

Prevalence of Gaucher Disease (GD) in Patients with Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia: A Multicenter Cross-sectional Study Protocol (Preprint)

10.2196/preprints.28607 ◽

2021 ◽

Author(s):

Abdulelah Qadi ◽

Aly Ezzat ◽

Ayman Al Hejazi ◽

Fahad Al Abbas ◽

Ghaleb Elyamany ◽

...

Keyword(s):

Saudi Arabia ◽

Gaucher Disease ◽

Cross Sectional Study ◽

Primary Objective ◽

High Risk Group ◽

Acid Sphingomyelinase ◽

Lysosomal Storage ◽

Sectional Study ◽

Eligibility Criteria ◽

Cross Sectional

UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. Despite healthcare being free to Saudi citizens, a number of potential barriers to healthcare access and individual healthcare-seeking have been reported. While Gaucher disease is a rare disease, its incidence in Saudi Arabia appears to be higher than other parts of the world. Nevertheless, no previous nationwide study was conducted to provide reliable data regarding the incidence and characteristics of Saudi patients with Gaucher Disease. There is a scarcity in the published literature regarding the treatment patterns and outcomes of Gaucher Disease in Saudi Arabia as well.

Download Full-text

BLEEDINGS IN THE HIGH-RISK GROUP OBSTETRIC HOSPITAL

V F Snegirev Archives of Obstetrics and Gynecology ◽

10.18821/2313-8726-2018-5-1-37-40 ◽

2018 ◽

Vol 5 (1) ◽

pp. 37-40

Author(s):

Elena M. Guseva

Keyword(s):

High Risk ◽

Blood Loss ◽

Risk Group ◽

Placenta Previa ◽

Massive Hemorrhage ◽

High Risk Group ◽

Massive Blood Loss ◽

High Prevalence ◽

Causes Of Deaths ◽

Stage Analysis

Massive hemorrhage and hemorrhagic shock as main causes of deaths in pregnancy, occupy up to 25% in the structure of mortality rate in obstetrics. In the past decade, the decline in the share of deaths of mothers has occurred due to postpartum bleedings and bleedings in detachment or placenta previa. The aim of the study was to determine the frequency and structure of massive bleedings in a high-risk group obstetric hospital. Methods. A retrospective descriptive cohort study was executed in 2 stages: at the 1st stage - a study of 396 deliveries histories with main nosological forms leading to possible pathological hemorrhage, in the II stage - analysis of 55 cases of massive blood loss. The object of the study was puerperas with placenta previa; puerperas with deliveries complicated by hypotonic bleeding or premature detachment of the placenta; puerperas with the massive blood loss. Duration of the study: from 01.01.2011 to 31.12. 2015. Results. The most frequent nosological form leading to abnormal blood loss is premature placental abruption. The frequency of cases of massive blood loss (more than 1000 ml) is 0.28% of the total number of deliveries and is more common in primigravidae (56.4%), mainly during surgical delivery (88%). Out of all massive bleedings, 45.5% are due to uterine hypotension. Amputation of the uterus was performed in 18.2% of the number of all cases of the massive hemorrhage. Conclusion. The high prevalence rate of the premature detachment of the placenta is explained by the uncontrollability of this pathology, in contrast to hypotonic bleeding in the postpartum period. The organ-preserving management in massive obstetric hemorrhages is not widely used.

Download Full-text

Prevalence of High Risk Group of Obstructive Sleep Apnea among Western Region Population in Saudi Arabia

The Egyptian Journal of Hospital Medicine ◽

10.12816/0044358 ◽

2018 ◽

Vol 70 (6) ◽

pp. 1035-1038

Author(s):

Mohammed Abdullah Assiri ◽

Habibullah Ammar Hussain M. ◽

Abdulaziz Saud Aljuaid

Keyword(s):

Obstructive Sleep Apnea ◽

Saudi Arabia ◽

Sleep Apnea ◽

High Risk ◽

Risk Group ◽

High Risk Group ◽

Western Region ◽

Obstructive Sleep

Download Full-text

To the question about the prevalence of prenosological forms of eating disorders among students of a medical university

Sanitarnyj vrač (Sanitary Inspector) ◽

10.33920/med-08-2008-05 ◽

2020 ◽

pp. 47-53

Author(s):

Anna Aleksandrovna Voitovich ◽

Taisiya Valerievna Milashevskaya ◽

Aleksandra Olegovna Moskvina

Keyword(s):

Eating Disorders ◽

Food Frequency Questionnaire ◽

Metabolic Disorders ◽

Risk Group ◽

Orthorexia Nervosa ◽

Food Frequency ◽

Significance Level ◽

Average Value ◽

High Prevalence ◽

Medical University

Today eating disorders and metabolic disorders are increasingly observed among the adult and children’s population. One of the ways to prevent these pathologies is the timely detection and correction of prenosological forms, one of them is orthorexia neurosa. The aim of our study was to identify the prevalence and characteristics of the manifestation of orthorexia nervosa (ON) among students. A survey was conducted among 60 students of a medical university with the «ORTO-15» and the «Food Frequency Questionnaire questionnaires» to obtain the necessary data. We took into account the height and weight of students and calculated body mass index (BMI) according to the Kettle’s formula. The results were statistically processed and calculated the average value (M), the deviation from the average (m). The correlation dependence between the values was estimated by the nonparametric Spearman’s coefficient (p). The data were considered statistically significant at p < 0.05 and a significance level of at least 95 %. The study showed a high prevalence of orthorexia nervosa among the examined individuals (in 80 % of cases, signs of ON were determined). The average BMI was 24.35 ± 5.3 among men and 20.9 ± 4.7 among girls. The normal BMI values among men were determined reliably more often than among girls (p˂0.05). In this case, a correlation between the values of BMI and the severity of signs of orthorexia nervosa was not found among students. According to the results of the «Food Frequency Questionnaire», a significant concern was identified with nutrition issues, both among girls and men. The above allowed us to conclude that the subjects examined constituted a risk group for the formation of mental disorders and eating disorders.

Download Full-text

Suicide by self-immolation in southern Iran: an epidemiological study

BMC Public Health ◽

10.1186/s12889-020-09778-z ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Ali Akbar Mohammadi ◽

Mohammadreza Karoobi ◽

Amirhossein Erfani ◽

Reza Shahriarirad ◽

Keivan Ranjbar ◽

...

Keyword(s):

Rural Areas ◽

Risk Group ◽

Study Data ◽

High Risk Group ◽

High Rate ◽

Burn Patients ◽

Cross Sectional ◽

Epidemiological Features ◽

High Prevalence ◽

Self Immolation

Abstract Background Self-immolation, as a method of suicide, is one of the most violent and extreme ways which is usually attempted by the ignition of inflammable materials, with more than 70% fatality rate. In the literature, Iran has been reported to have a high rate of self-immolation; therefore, this study aimed to evaluate the prevalence and epidemiological features of self-immolated patients. Methods In this retrospective cross-sectional multicenter study, data from burn patients from 2007 till 2017 due to self-immolation and suicide were enrolled in our study. Results Based on our data, 657 out of 3530 burn patients (18.6%) with a mean age of 31.15 (SD = 0.452) were documented as suicidal attempts; the majority were female (63.2%) and married (66.3%). Most of the patients were from rural areas (58.3%) with an education level of under diploma (63.2%). Of the patients in our study, 22 (8.7%) had comorbid systemic diseases and 115 (50.5%) had psychiatric disorders. Conclusion Due to the high prevalence of suicide by self-immolation among the Iranian population, further studies to evaluate the risk factors and clarify the high-risk group for more targeted approaches are recommended.

Download Full-text

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report

Clinica Chimica Acta ◽

10.1016/j.cccn.2004.11.032 ◽

2005 ◽

Vol 354 (1-2) ◽

pp. 167-180 ◽

Cited By ~ 47

Author(s):

Hye-Ran Yoon ◽

Kyung Ryul Lee ◽

Seungwoo Kang ◽

Dong Hwan Lee ◽

Han-Wook Yoo ◽

...

Keyword(s):

Mass Spectrometry ◽

High Risk ◽

Tandem Mass Spectrometry ◽

South Korea ◽

Metabolic Disorders ◽

Risk Group ◽

High Risk Group ◽

Tandem Mass

Download Full-text

Review of the spectrum of genetic diseases in Bahrain

Eastern Mediterranean Health Journal ◽

10.26719/1999.5.6.1114 ◽

1999 ◽

Vol 5 (6) ◽

pp. 1114-1120

Author(s):

S. S. Al Arrayed

Keyword(s):

Cystic Fibrosis ◽

Down Syndrome ◽

Metabolic Disorders ◽

Genetic Disorders ◽

Genetic Diseases ◽

Blood Disorders ◽

Chromosomal Disorders

This paper looks at some of the studies on genetic disorders conducted in Bahrain. The disorders covered include: genetic blood disorders, metabolic disorders, chromosomal disorders, including Down syndrome, and cystic fibrosis. The rate of consanguinity in Bahrain and the results of premarital counselling are also discussed

Download Full-text