Editorial
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Dealing with Death/dying in Medicine
Review Article
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Prevalence of Diabetic Retinopathy Among Individuals with Diabetes in Gulf Cooperation Council countries: A Systematic Review and Meta-analysis
Zoelfigar Mohamed, Malek Al-Natour, Hilal Al Rahbi
Objectives: To determine the proportion of diabetic retinopathy (DR) among individuals with diabetes mellitus in the Gulf Cooperation Council (GCC) countries. Methods: This study was executed in compliance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Online databases including Scopus, Web of Sciences, PubMed, Index Medicus for the eastern Mediterranean region, Medline, and ProQuest, were utilized to retrieve studies on the prevalence of DR in GCC countries that were conducted from 2003 to 2019. Results: Twenty articles were included in the meta-analysis, involving 61 855 patients. The prevalence of DR was 20.5% (95% CI: 20.212–20.850). The highest prevalence rate was observed in Saudi Arabia (69.8%; 95% CI: 64.989–74.216) and the lowest in the UAE (6.0%; 95% CI: 2.780–11.084). There was a significant heterogeneity between the reviewed studies (p < 0.001). Conclusions: The prevalence of DR was high in the GCC countries. Our findings provide crucial information for the public healthcare systems in these countries to actively educate the public and screen at-risk populations for undiagnosed cases of diabetes, detect early stages of retinopathy, and provide required care to minimize the number of untreated cases.
Keywords:Diabetic Retinopathy; Diabetes Mellitus; Prevalence; Gulf Cooperation Council.
Original Articles
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Modeling Zero-inflated Count Data Using Generalized Poisson and Ordinal Logistic Regression Models in Medical Research
Bijesh Yadav, Lakshmanan Jeyaseelan, Marimuthu Sappani, Thenmozhi Mani, Sebastian George, Shrikant I. Bangdiwala
Objectives: In medical research, the study’s design and statistical methods are pivotal, as they guide interpretation and conclusion. Selecting appropriate statistical models hinges on the distribution of the outcome measure. Count data, frequently used in medical research, often exhibit over-dispersion or zero inflation. Occasionally, count data are considered ordinal (with a maximum outcome value of 5), and this calls for the application of ordinal regression models. Various models exist for analyzing over-dispersed data such as negative binomial, generalized Poisson (GP), and ordinal regression model. This study aims to examine whether the GP model is a superior alternative to the ordinal logistic regression (OLR) model, specifically in the context of zero-inflated Poisson models using both simulated and real-time data. Methods: Simulated data were generated with varied estimates of regression coefficients, sample sizes, and various proportions of zeros. The GP and OLR models were compared using fit statistics. Additionally, comparisons were made using real-time datasets. Results: The simulated results consistently revealed lower bias and mean squared error values in the GP model compared to the OLR model. The same trend was observed in real-time datasets, with the GP model consistently demonstrating lower standard errors. Except when the sample size was 1000 and the proportions of zeros were 30% and 40%, the Bayesian information criterion consistently favored the GP model over the OLR model. Conclusions: This study establishes that the proposed GP model offers a more advantageous alternative to the OLR model. Moreover, the GP model facilitates easier modeling and interpretation when compared to the OLR model.
Keywords:Logistic Models; Models, Statistical; Outcome Assessment, Health Care.
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Seroprevalence of Human T-cell Lymphotropic Virus Types I/II Among Blood Donors in a Tertiary Hospital in Oman
Noora Al-Bulushi, Khuloud Al Maamari, Fatma Ba Alawi, Arwa Z. Al-Riyami, Ali Al Marhoobi
Objectives: Routine blood donor screening of human T-cell lymphotropic virus (HTLV) has been practiced in Oman since 2017. Limited data exists on HTLV seroprevalence among Omanis. This study aims to determine the seroprevalence of HTLV-I/II among blood donors attending a hospital-based blood bank to assess the need for a universal versus targeted screening. Methods: We conducted a retrospective review of blood donors’ results attending a hospital blood bank between January 2017 and February 2020. Blood samples were screened for HTLV-I/II antibodies using ARCHITECT i2000SR. Reactive samples underwent further testing by immunoblot assay (MP Diagnostics HTLV Blot 2.4). Age, gender, and nationality were assessed. All components manufactured at the blood bank undergo leukoreduction before storage. Results: A total of 24 469 first-time blood donors were screened for HTLV antibodies. Most participants were male (n = 22 186, 90.7%), and the majority were Omani (n = 22 711, 92.8%). The age range was 18 to 64 years, with a median of 32 years. The seroreactivity rate was 0.2% (43; 95% CI: 0.12–0.23). Confirmatory testing by immunoblot revealed three indeterminate results (7.9%), of which two were Omani and one non-Omani donor, and the remaining 40 seroreactive donors tested negative. Conclusions: Our study revealed zero seroprevalence of confirmed HTLV among blood donors. The continuation of universal screening for first-time donors is a standard of care. With universal leukoreduction at Sultan Qaboos University Hospital and a very low risk of HTLV in Oman’s population, the need for screening regular donors can be reconsidered if these findings are confirmed on a larger scale involving other blood banks in Oman.
Keywords:Human T-lymphotropic virus 1; Human T-lymphotropic virus 2; Seroepidemiologic Studies; Oman.
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Time to Positivity of Blood Culture as a Predictor of Causative Pathogens and Survival in Neonatal Sepsis: A Retrospective Cohort Study from Indonesia
Agung Dwi Wahyu Widodo, Putu Bagus Dharma Permana, Arina Setyaningtyas, Manik Retno Wahyunitisari
Objectives: In the blood culture procedure for neonatal sepsis, time to positivity (TTP) reflects the pathogenic bacterial load and the time required for empirical antibiotic regimen administration prior to definitive treatment. This study aims to identify the differences in TTP among causative pathogens and its predictive value for the overall survival of neonates with sepsis at a tertiary healthcare center in Indonesia. Methods: A retrospective cohort study was conducted from January 2020 to August 2022 at Dr. Soetomo General Hospital, Surabaya, Indonesia. Neonates with blood culture-proven neonatal sepsis were included in the analysis. TTP was defined as the time between the acceptance of a blood culture specimen from the neonatal intensive care unit and reports of positive culture growth by the laboratory. Results: Across 125 cases, the median TTP was 58.1 hours (IQR = 24.48). Blood cultures were positive within 48 hours for 41.6% of cases, 72 hours for 86.4%, and 96 hours for 98.4%. A significantly shorter TTP was exhibited by the three major gram-negative organisms (Klebsiella pneumoniae, Acinetobacter baumannii, Enterobacter cloacae) compared to coagulase-negative Staphylococci. The neonatal sepsis mortality rate was 49.6% during the study period. In the Cox multivariate regression model, a shorter TTP was an independently predicted mortality in the entire cohort (hazard ratio (HR) = 0.985, 95% CI: 0.973–0.998) and the gram-negative sepsis cohort group (HR = 0.983, 95% CI: 0.968–0.999). Conclusions: TTP predicts different causative pathogens and the overall survival of neonatal sepsis cases at a tertiary healthcare facility in Indonesia.
Keywords:Neonatal Sepsis; Sepsis; Indonesia.
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Pituitary Adenoma Prevalence and Characteristics of Omani Patients: A Single Center Experience
Abdullah M. Al Futaisi, Asma M. Al Marzouqi, Mohammed A. Al Abri, Maha Z. Al Riyami
Objectives: To estimate the incidence of pituitary adenomas (PA) in adult Omani patients and describe its epidemiological, clinical, and radiological characteristics. Methods: In this longitudinal, descriptive study, we reviewed the records of all PA patients from January 2015 to January 2020 who presented at the endocrinology facilities at Sultan Qaboos University Hospital, Muscat. Results: The participants comprised of 112 Omani patients with PA. The incidence of PA among all adult patients at Sultan Qaboos University Hospital (inpatient and outpatient) over five years (2015–2020) was 0.23%. The cohort had a mean age of 41.0±15.0 years. Of the 112 patients included in this study, 79 (70.5%) were women. Nearly half (51; 45.5%) of adenomas were prolactinomas while 46 (41.1%) were non-functioning adenomas, and seven (6.3%) were growth hormone-secreting adenomas while six (5.4%) were adrenocorticotropic hormone secreting adenomas. Headache was present in 67 (59.8%) patients, followed by visual field defects (40; 35.7%), galactorrhea (26; 23.2%), and fatigue (19; 17.0%). The majority of women (45/79; 57.0%) presented with menstrual cycle abnormalities. Radiological appearances were nearly equally distributed between micro- and macroadenomas. Most cases (58/112; 52.0%) of PA were treated medically by cabergoline, octreotide, and replacement therapies such as hydrocortisone and thyroxin, 38 (33.9%) were treated surgically (mainly by trans-sphenoidal pituitary resection), and the remaining 10 (8.9%) cases were subjected to radiotherapy. Medical treatment combined with surgery was employed for 15 (13.4%) patients. Conclusions: In our investigation, PA was primarily prevalent among Omani female patients, and the most common subtype of pituitary tumors was prolactinomas. The most common presentation symptom was headaches; most female patients had menstrual irregularities. Medical treatment was the primary approach for the applicable types of PAs, while surgery and radiotherapy were found to be secondary and tertiary treatment options, respectively.
Keywords:Pituitary gland; Adenoma; Acromegaly; Prolactinoma; Oman.
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ApaI and Fok1 Variants of Vitamin D Receptor Gene Associated with Metabolic Syndrome Among Jordanian Women
Manar Fayiz Atoum
Objectives: The association between vitamin D receptor (VDR) polymorphisms and metabolic syndrome (MS) remains debatable. The current study aimed to determine the correlation of VDR gene polymorphisms with MS among Jordanian women.Methods: This case-control study enrolled 100 women with MS and 100 age-matched women as control at Al-Hikma Modern Hospital in Jordan between January 2019 and January 2020. The levels of glycated hemoglobin, fasting glucose, triglyceride, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and 25-hydroxy vitamin D (25(OH)D) were determined from serum samples of all participants. DNA was extracted from whole blood samples, and VDR gene polymorphisms Apa1, Taq1, Bsm1, and Fok1 were analyzed by polymerase chain reaction and restriction fragment length polymorphism. Results: There was a significant difference between MS patients and control in terms of body mass index (34.3±3.1 vs. 28.1±2.5), glycated hemoglobin (5.9±1.1 vs. 4.6±1.2), fasting blood glucose (6.4±1.6 vs. 5.2±1.4), and total cholesterol (6.5±1.2 vs. 5.3±1.8). The results also demonstrated a statistical difference in the number of MS patients and control with 25(OH)D deficiency (69.0 vs. 33.0), 25(OH)D insufficiency (25.0 vs. 42.0), and 25(OH)D sufficiency (6.0 vs. 25.0) (p < 0.001). MS was significantly associated with VDR polymorphisms among Apa1 and Fok1 genes. The genotype distribution for CC (47.0% vs. 53.0%; p = 0.002) and CA (37.0% vs. 45.0%; p = 0.001) genotypes among Apa1 VDR polymorphism, as well as among TT genotype (38.0% vs. 20.0%; p = 0.025) among Fok1 VDR gene polymorphism significantly differed between MS patients and healthy individuals. However, no associations were detected among Taq1 and Bsm1 VDR genotypes. Conclusions: VDR gene polymorphism of Apa1 and Fok1 variants may increase the risk of metabolic syndrome among Jordanian women.
Keywords:Body Mass Index; Vitamin D; Metabolic Syndrome; Polymorphism, Genetic; Jordan.
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Potential Involvement of Human Leukocyte Antigen-DR/DQ Polymorphisms with Schizophrenia Among Patients with Schizophrenia in Yemen
Hassan Abdulwahab Al-Shamahy, Sami Mohammed Abdo Hassan
Objectives: To evaluate the hypothesis that human leukocyte antigens (HLAs) confer susceptibility to schizophrenic disorders, by assessing their contribution to the risk of schizophrenia in a Yemeni population. Methods: The researchers approached patients who had been diagnosed with schizophrenia at Al-Amal Hospital for Psychiatric Diseases, Sana’a. Controls were drawn randomly from the general population. The HLA class II alleles of the participants were examined. The genotypes of the HLA-DQB1 and HLA-DRB1 alleles were determined by polymerase chain reaction using sequence-specific primers. Results: The subjects comprised 110 patients with schizophrenia, matched by an equal number of controls. The prevalence of HLA-DRB1*04 was significantly higher among patients than among controls (7.3% vs. 0.0%; p = 0.003), as was HLA-DRB1*07 (62.7% vs. 17.3%, odds ratio (OR) = 8.1, 95% CI: 4.3–15.1; p < 0.001). HLA-DRBI*14 was significantly less prevalent among patients (0.9% vs. 11.8%, OR = 0.06, 95% CI: 0.01–0.50, χ2 = 10.9; p < 0.001). HLA-DQB1*07 was the most common allele discovered in schizophrenia patients and was found to have a much higher incidence in patients than the control group (22.7% vs. 4.5%, OR = 6.2, 95%CI: 2.3–16.8, χ2 = 15.4; p < 0.001). Conclusions: The HLA-DQB1 and HLA-DRB1 gene loci are linked to schizophrenia in the Yemeni population, according to the current study’s evidence.
Keywords: HLA Antigens; Schizophrenia; Yemen.
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IDH1 and IDH2 Gene Mutations in Omani Patients with Acute Myeloid Leukemia: Prognostic Significance and Clinic-pathologic Feature
Yusra Al Abri, Mohammed Al Huneini, Shoaib Al Zadjali, Mohammed Al Rawahi
Objectives: We sought to define the prevalence of isocitrate dehydrogenase (IDH) mutations, evaluate the clinicopathologic impact of IDH mutations, assess the effect of IDH mutations on the response to the currently offered treatment for acute myeloid leukemia (AML) cases, and determine the impact of other common concurrent mutations with IDH. Methods: A single-center retrospective cohort study was conducted at Sultan Qaboos University Hospital (SQUH) from October 2009 to October 2019. We included all Omani patients (pediatric and adult) treated at SQUH with the standard therapy, for whom DNA extraction was performed at diagnosis. The target mutations in both IDH1 and IDH2 genes were screened using the direct polymerase chain reaction product sequencing method. Statistical analysis was conducted using SPSS software. Survival differences were estimated using the log-rank test. Continuous variables were presented as median (IQRs), while categorical variables were presented as frequency. Results: A total of 61 patients treated, for whom DNA extraction was performed at diagnosis were evaluated. The median age was 40 (range = 25.5–65.5). The prevalence of IDH1 R132, IDH2 R140, and IDH2 R172 mutations among the study group was 6.6%, 3.3%, and 1.6%, respectively. Clinicopathologic characteristics associated with IDH mutations at diagnosis included older age, lower white blood cell count, higher median platelet counts, normal karyotype AML, and cytogenetics intermediate-risk group. The overall survival (OS) in patients harboring IDH mutations was poor, with a median OS of nine months. This analysis confirms that the response rate and OS for both IDH-mutated and IDH wild-type AML patients were comparable. This will provide contemporary data to be used for comparison with the results of novel investigational (e.g., selective IDH inhibitor) strategies. Conclusions: The current study results were consistent with the other international studies of IDH mutations in AML and demonstrate the poor prognosis associated with IDH mutations. Clinicopathologic features associated with IDH mutations included older age, lower white blood cell count, higher median platelet counts, normal karyotype AML, and cytogenetics intermediate-risk group.
Keywords: Acute Myeloid Leukemia; Isocitrate Dehydrogenase 1; IDH2 Protein, Human.
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Relationship Between Alexithymia, Smartphone Addiction, and Psychological Distress Among University Students: A Multi-country Study
Mai Helmy, Ahmed H. Ebrahim, Aysha Faqeeh, Ethan Engel, Farzana Ashraf, Buremoh Ayotunde Isaac
Objectives: Increasing dependence on smartphones results in the appearance of psychological problems, especially among young people. This study aims to determine the rates of alexithymia and its relationship with smartphone addiction and psychological distress in university students. Methods: A total of 2616 students (mean age = 22.5±3.5 years; 73.1% female) from universities in Egypt, Oman, and Pakistan were included in a cross-sectional and comparative study conducted through a web survey during the COVID-19 pandemic from October to December 2021. The following scales were used: Toronto Alexithymia Scale (TAS-20), Depression Anxiety Stress Scale (DASS-21), and Smartphone Addiction Scale-Short Version (SAS-SV). The survey also included questions related to sociodemographic and smartphone usage patterns.Results: Students scoring above the TAS-20 cutoff point were significantly more likely to have smartphone addiction (χ2(1) = 45.41; p < 0.001) and psychological distress (χ2(1) = 246.31; p < 0.001). Likewise, smartphone addiction was significantly associated with psychological distress (χ2(1) = 57.46; p < 0.001). However, at each of the TAS-20, SAS-SV, and DASS-21 variables, there were significant differences between the students of the three countries (p < 0.050, p < 0.010, and p < 0.010, respectively); smartphone addiction was highest in Oman, while alexithymia and psychological distress were most severe in Egypt. Women scored higher than men on SAS and TAS scales (p < 0.001). Students who used social media frequently were more prone to smartphone addiction. Conclusions: Understanding cultural and socioeconomic factors (such as living standards, technology accessibility, and social interaction patterns) is crucial for generating strategies to improve the psychological well-being of the youth of different regions and countries. Further, this study confirms the findings of recent studies indicating the heightened university students’ psychological vulnerability during the COVID-19 pandemic.
Keywords:Alexithymia; Behavior; Psychological Distress; Transcultural Psychology; Students.
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The Quality of Life of Urban Omani People During the COVID-19 Pandemic in A’Seeb Wilayat: A Cross-sectional Study
Mohammed Al Hinai, Zalikha Issa Al Belushi, Asma Said Al Shidhani, Maisa Hamed Al Kiyumi
Objectives: COVID-19 is an emergent disease with significant global concern, which might have a negative effect on quality of life. This study aimed to determine the impact of the COVID-19 pandemic on the quality of life of people (with or without COVID-19) attending primary health centers in A’Seeb Wilayat in Muscat, Oman. Methods: This cross-sectional study was conducted in four randomly selected primary health centers in A’Seeb Wilayat from 17 July 2021 to 31 January 2022. All Omani men and women, aged ≥ 18 years, regardless of their COVID-19 infection status, who were able to read and use online questionnaire, were included. The consecutive sampling method was applied. An online self-administered and validated Arabic version of the Short Form-12 was used to determine the impact of the COVID-19 pandemic on mental and physical quality of life. Results: A total of 701 participants were included with a mean age of 25.3 years. Two-thirds of the participants (n = 473, 67.5%) reported being physically affected by the COVID-19 pandemic (score of ≤ 50) and more than half (n = 392, 55.9%) had been mentally affected (score of ≤ 42). Univariate analysis revealed a significant association between physical impact and educational level, low family income, chronic diseases, and alcohol consumption. Gender, young age, being single, low income, and chronic diseases were significant risk factors for mental impact. Conclusions: Physical and mental impacts are very common during the COVID-19 pandemic. Several risk factors were identified. Public health programs need to be implemented to mitigate the negative impact of COVID-19 on quality of life.
Keywords:COVID-19; Quality of Life; Oman.
Case Reports
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Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
Asma Al Hatmi, Ishaq Sulaiman Al-Salmi, Mohammed Al-Masqari, Atheel Kammona
Colonic leiomyomatous lesions are smooth muscle tumors including both benign leiomyoma and malignant leiomyosarcoma. They usually occur in elderly and middle-aged groups. They are rare, representing 3% of all gastrointestinal leiomyomas. Descending and sigmoid colon are the most commonly affected segments of colon. Patients are usually asymptomatic but occasionally they may present with abdominal pain, hemorrhage, and intestinal obstruction. Radiological findings for these lesions are variable and overlapping with other diagnoses but usually manifest as large lesions with lobulated margins, extra-colic growth, and heterogeneous enhancement. Final diagnosis is achieved by tissue diagnosis in which immunohistochemistry is used to differentiate them from other types of mesenchymal tumors like gastrointestinal stromal tumor. A complete surgical/endoscopic resection is usually curative with an excellent prognosis in cases of benign leiomyoma. In cases of leiomyosarcoma, post-surgical chemotherapy and radiotherapy are usually needed with a five-year survival of about 50%. We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.
Keywords:Leiomyosarcoma; Smooth Muscle Tumor; Leiomyoma; Oman.
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Latent Autoimmune Diabetes in Adults: A Case Report
Khalid Shaikh, Natasha Mathew
Latent autoimmune diabetes in adults (LADA) is a slow progressive autoimmune destruction of pancreatic beta cells. This condition tends to manifest during adulthood, often around 35 years of age. While LADA can initially be managed by oral medications, eventually the patient will require insulin. We report a case of a 34-year-old woman who was initially treated for type 2 diabetes mellitus but was later diagnosed with LADA.
Keywords:Latent Autoimmune Diabetes in Adults; Double Diabetes; Autoantibodies; Glutamic Acid Decarboxylase; Oman.
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New-onset Seropositive Rheumatoid Arthritis Post-mRNA COVID-19 Vaccine: A Case Report
Amanda Almouslem, Talal Al Lawati, Ali Al Shirawi, Usama Al Amri
Growing evidence in the medical literature has linked the COVID-19 vaccine as a potential trigger for the development or exacerbation of various autoimmune rheumatic diseases. To the best of our knowledge, we report one of the first cases of seropositive rheumatoid arthritis diagnosed after the messenger RNA COVID-19 vaccine.
Keywords:Anti-Citrullinated Protein Antibodies; COVID-19; COVID-19 Vaccines; RNA, Messenger; Arthritis, Rheumatoid.
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Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
Shasthara Paneyala, Harsha Sundaramurthy, Sahana Panambur, Nemichandra S. C., Vimala Colaco, Sri Harsha Chalasani
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.
Keywords:Idiopathic Intracranial Hypertension; Pseudotumor Cerebri; Cranial Nerve Palsies; Papilledema; Headache; India.
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A Novel PTRH2 Gene Mutation Causing Infantileonset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Hasan M. Isa, Sara D. Khalaf, Sara Janahi, Mohamed M. Naser, Noor Al Hamad, Hasan Alhaddar, Maryam Busehail
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficiency. The diagnosis was confirmed by genetic testing using whole exome sequencing. This is the first reported case of IMNEPD from Bahrain and was found to have a novel homozygous peptidyl-tRNA hydrolase 2 (PTRH2) gene mutation (NM_001015509.2: c.370del p.(Glu124Lysfs*4)). Moreover, we conducted an extensive literature review with an emphasis on the variable clinical spectrum and genotypes of previously reported patients in comparison to our case.
Keywords:Child; Intellectual Disability; Hearing Loss, Sensorineural; Diabetes Mellitus; Pancreatic Diseases; Mutation.
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Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report
Majeed H. Al Ajeli
Sanjad-Sakati syndrome is a rare autosomal recessive genetic disorder that presents solely in Arabian people. Our case was reported from the Fallujah Teaching Hospital for Women and Children in Fallujah, Iraq. This syndrome is associated with hypoparathyroidism, growth retardation, atypical facial appearance, and a variable degree of mental retardation. It is usually caused by genetic mutations of the tubulin-folding cofactor E (TBCE; 604934), which is located on the 1q42.3 chromosome. This case was confirmed by a genetic study which revealed a pathogenic variant in the homozygous state in the TBCE gene. Typically, the physical features of this case involve microcephaly, long and narrow face, beaked nose, deep-set eyes, large ears, thin lips, long philtrum, micrognathia, and small hands and feet. Although Sanjad-Sakati syndrome is an incurable disease, early diagnosis helps with appropriate palliative treatment of the patient, reducing other associated metabolic and electrolyte disturbances, and allows for a genetic study and counseling of the family, especially in our society due to the high rate of consanguinity.
Keywords:Sanjad-Sakati Syndrome; tubulin folding cofactor E-like protein, human; Hypoparathyroidism.
Clinical Quiz
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An Unexpected Midline Neck Swelling in a Young Female
Jennifer Peak Hui Lee, Jeyasakthy Saniasiaya
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Two Common Pelvic Diseases Detected on X-ray Pelvis
Minal Dhanvij, Avantika Gupta, Bishnupriya Moharana, Chandrakant Munjewar, Neha Gangane
Letter to the Editor
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Incremental Cost-effectiveness Thresholds for Policy Decision-makers: Is ICER the Most Appropriate Measure to Use?
Sultana Al Sabahi, Ahmed Almasharfi
Supplement
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Oman Medical Specialty Board Research Forum 2023/2024: Abstracts