Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal re...Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal recessive disorder that manifests as retinal dystrophy and leukodystrophy. We report five Omani patients with ages ranging between 4 and 30 years. First presentation was in infancy with nystagmus and photophobia and progressed to legal blindness by 10 years of age. Electroretinogram confirmed severe cone-rod dystrophy. Motor neuroregression with variable ages of onset and signs of progressive cerebellar ataxia were seen in all patients, whereas cognitive decline was observed in some. Brain MRI revealed diffuse T2 signal abnormality in deep white matter, with involvement of corticospinal tracts. Plasma long chain fatty acid profile showed mild elevation of C26 and C26/22 ratio. Two homozygous variants in gene were identified; exons 7 and 8 deletion and exon 4 deletion. This series confirms retinal dystrophy and leukodystrophy as key features of ACBD5 deficiency with main symptoms of early onset visual decline, progressive spasticity, and cerebellar ataxia. This case series adds valuable insight in to this ultra-rare neurometabolic disease.
OBJECTIVES: Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system. It is suggested that mechanisms of many diseases involve 'sterile inflammation' triggered by oxidative stress in the abse...OBJECTIVES: Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system. It is suggested that mechanisms of many diseases involve 'sterile inflammation' triggered by oxidative stress in the absence of infection. Inflammasomes regulate such inflammatory processes. Antioxidants can counter oxidative stress, but their exact relationship with inflammasome activity in MS is unclear. This study aimed to investigate the association between inflammasome markers and antioxidant vitamins D and E in Jordanian patients with MS. METHODS: We enrolled 100 patients with MS and 100 healthy controls. Their blood samples were analyzed by enzyme-linked immunosorbent assay (ELISA) for levels of interleukin-18 (IL-18), IL-1 beta (IL-1β), nucleotide-binding oligomerization domain, leucine-rich repeat, and pyrin domain-containing protein 3 (NLRP3), and vitamins D and E. RESULTS: Patients with MS had significantly higher serum levels of IL-18 (0.020), IL-1 β (0.001), and NLRP3 (0.040) compared with the controls. Serum NLRP3 had an inverse correlation with vitamin D (r = -0.20; 0.020). Moreover, a significant negative correlation existed between IL-1 β and vitamin E (r = -0.14; 0.040). CONCLUSIONS: Our findings suggest that inflammasome activation in MS is linked to decreased levels of antioxidant vitamins. Hence, inflammasome marker levels may serve as future potential biomarkers of disease activity and progression in MS.
Drug induced leukocytoclastic vasculitis is defined as the inflammation of blood vessels caused by the use of pharmacological agents. It may only affect the skin, resulting in cutaneous leukocytoclastic vasculitis, or it...Drug induced leukocytoclastic vasculitis is defined as the inflammation of blood vessels caused by the use of pharmacological agents. It may only affect the skin, resulting in cutaneous leukocytoclastic vasculitis, or it may be systemic, affecting other organs such as central nervous system, gastrointestinal tract, lungs, kidneys, and joints resulting is organ and tissue damage and even death. Early withdrawal of the causative drug is sufficient to promote rapid resolution and recovery. Here we report a case of tigecycline induced cutaneous leukocytoclastic vasculitis of hemorrhagic vesiculobullous type in an immunocompromised patient who was being treated with tigecycline for parapneumonic effusion with persistently elevated inflammatory markers.
OBJECTIVES: Colorectal cancer (CRC) age-standardized mortality rates (ASMR) are increasing in the North Africa and Middle East (NAME) region, in contrast to the global trend. While the upward trend of the CRC mortality i...OBJECTIVES: Colorectal cancer (CRC) age-standardized mortality rates (ASMR) are increasing in the North Africa and Middle East (NAME) region, in contrast to the global trend. While the upward trend of the CRC mortality in the NAME region is evident, the key drivers of this increase are still not fully established. We sought to examine the impact of 11 risk factors on the rise in CRC mortality in the region. METHODS: We obtained data from the Global Burden of Disease study 1990-2019. We examined changes in risk-related ASMR (ASMRΔ) for high body mass index (BMI), high fasting plasma glucose (FPG), low physical activity, smoking, alcohol, and six dietary factors. Analyses were stratified by sex. Rates and rate differences were expressed per 100 000. RESULTS: CRC ASMR in the NAME region increased by 19.5% (ΔASMR = 1.6). ASMR increased by 25.0% (ΔASMR = 2.1) in men and 16.5% (ΔASMR = 1.3) in women. High FPG and high BMI had the highest risk-attributed ASMRΔ in the NAME population (0.56 and 0.55, respectively). In men, high BMI had the highest risk-attributed ΔASMR (0.85), while in women, high FPG had the highest risk-attributed ΔASMR (0.50). ΔASMR, related to all metabolic risks, (high FPG and high BMI) explained 64.4% of the CRC mortality increase in the region, 63.8% of the increase in men, and 53.8% of the increase in women. CONCLUSIONS: CRC mortality is increasing in the NAME region; hyperglycemia and obesity are the key drivers of the increasing trend. Interventions targeting metabolic risks are needed.
Polycystic ovary syndrome is a common endocrine disorder among women of reproductive age worldwide and is increasingly recognized in Oman. Hormonal imbalances, particularly elevated androgen levels, underline many of its...Polycystic ovary syndrome is a common endocrine disorder among women of reproductive age worldwide and is increasingly recognized in Oman. Hormonal imbalances, particularly elevated androgen levels, underline many of its manifestations, leading to excessive male-pattern hair growth, acne, and oily skin. These visible manifestations can significantly affect self-esteem and body image. Furthermore, these hormonal imbalances disrupt the menstrual cycle, causing irregular or absent periods, and making natural conception difficult. As such, polycystic ovary syndrome deeply influences a woman's perceptions of her femininity and societal norms surrounding womanhood. This can be particularly distressing to women in Middle Eastern societies including Oman, where motherhood is highly valued. Recognizing this broad range of issues is important for developing culturally appropriate interventions to address both the physical and psychological consequences of this condition, thereby improving the quality of life of affected women.
OBJECTIVES: Viral Hepatitis reactivation can occur in patients receiving tyrosine kinase inhibitors (TKIs), with potentially fatal complications. We aimed to assess hepatitis reactivation in patients with chronic myeloid...OBJECTIVES: Viral Hepatitis reactivation can occur in patients receiving tyrosine kinase inhibitors (TKIs), with potentially fatal complications. We aimed to assess hepatitis reactivation in patients with chronic myeloid leukemia (CML) treated with TKIs. METHODS: We retrospectively reviewed the clinical and laboratory records, including antiviral therapy and hepatitis testing data, of CML patients treated with TKI at Sultan Qaboos University Hospital between 2006 and 2020. RESULTS: The participants comprised 98 Omani CML patients who underwent TKI therapy (mean age = 41.1 years; range = 4-77 years). No cases met study criteria for viral hepatitis reactivation during TKI therapy. Imatinib was the first-line CML therapy for 87 (88.8%) patients; Imatinib was used as first line in 93 (94.9%) patients; most patients subsequently switched to other TKIs. Anti-HBc was positive at baseline in 16 (16.3%) patients of whom six with hepatitis B surface antigen-positivity were treated with antivirals along with TKIs, with positive outcomes. The only hepatitis C virus positive CML patient in the cohort also achieved long-term remission from both with combined interferon therapy and TKI. The overall mortality rate was nine (9.2%). CONCLUSIONS: In this cohort of Omani patients, no hepatitis B virus or hepatitis C virus reactivation case was documented in association with TKI therapy.
OBJECTIVES: This study aimed to investigate the etiology and risk factors of infertility among Omani couples aged 18-49 years. METHODS: Subjects in this retrospective cross-sectional study were selected using purposive s...OBJECTIVES: This study aimed to investigate the etiology and risk factors of infertility among Omani couples aged 18-49 years. METHODS: Subjects in this retrospective cross-sectional study were selected using purposive sampling method from Omani couples who attended the infertility clinic of a tertiary referral hospital in Muscat between January 2015 and December 2022. Demographic variables, clinical findings, imaging results, hormonal profiles, surgical history, and semen parameters extracted from the hospital information system were analyzed. The main outcomes included male and female infertility etiologies and associated risk factors. RESULTS: The participants included 259 Omani couples. Female-factor infertility accounted for 53.7% of cases, male-factor infertility for 41.7%, and unexplained infertility for 4.6%. Combined factors accounted for 14.3%. Among couples with primary and secondary infertility, mean ages of the female partners age were 37.0 ± 7.1 years and 43.0 ± 5.5 years respectively. Overall, 39.6% of women were obese or overweight. Polycystic ovarian syndrome (PCOS) (21.6%), fibroids (16.0%), endometriosis (7.8%), and tubal block (14.4%) were the main female factors. There was a significant association between body mass index and PCOS and between higher age and fibroids ( = 0.211; < 0.010). Male abnormalities included oligospermia (45.4%), asthenozoospermia (18.5%), multiple semen abnormalities (23.1%), azoospermia (11.1%), and teratozoospermia (1.9%). CONCLUSIONS: Higher maternal age, high body mass index, particularly in association with PCOS and anovulatory disorders, were important modifiable risk factors of infertility in this cohort of Omani couples. Early identification and targeted interventions are recommended to improve fertility outcomes.
Spontaneous ovarian hyperstimulation syndrome is a rare condition seen in women of childbearing age. It could be gestational or non-gestational. Most reported cases are associated with multiple pregnancies and hypothyroi...Spontaneous ovarian hyperstimulation syndrome is a rare condition seen in women of childbearing age. It could be gestational or non-gestational. Most reported cases are associated with multiple pregnancies and hypothyroidism. We report a case of spontaneous ovarian hyperstimulation syndrome in a young non-pregnant woman with a pituitary macroadenoma which regressed after surgical resection of the pituitary adenoma, but recurred after four years.
Peroneal neuropathy is the most prevalent compressive neuropathy of the lower extremity and may result from prolonged squatting. However, bilateral peroneal nerve paralysis following prolonged squatting is uncommon. Squa...Peroneal neuropathy is the most prevalent compressive neuropathy of the lower extremity and may result from prolonged squatting. However, bilateral peroneal nerve paralysis following prolonged squatting is uncommon. Squatting-induced common peroneal nerve neuropathy in the workplace has been reported among agricultural workers, sewer pipe workers, and harvesting farm workers, but little is known about this type of neuropathy in other professions. In this report, we present a case of a floor tile worker who, after prolonged squatting for 6-7 hours over two months, developed bilateral lower-leg numbness and weakness due to a bilateral peroneal nerve injury. Two months after cessation of work and physiotherapy, his symptoms and neurophysiological abnormalities had completely resolved. Avoiding prolonged squatting, especially in small spaces, and incorporating knee and knee muscle stretching exercises are highly effective in preventing this neuropathy in workers.
Calcifying fibrous tumor (CFT) is a rare benign tumor of mesenchymal origin that may develop in several sites in the body, including the gastrointestinal tract. CFTs could present with clinical symptoms or remain asympto...Calcifying fibrous tumor (CFT) is a rare benign tumor of mesenchymal origin that may develop in several sites in the body, including the gastrointestinal tract. CFTs could present with clinical symptoms or remain asymptomatic. We report a rare case of CFT located at the jejunal mesentery and attached to a mesenteric band causing small bowel obstruction. This case is distinctive due to the presence of a mesenteric CFT combined with a mesenteric band, causing constriction of the small bowel. To our knowledge, this is the first case in the literature to report a congenital band associated with CFT. The mass was surgically removed, and the band was released and ligated.
OBJECTIVES: Inflammatory bowel disease (IBD) is a global health concern with increasing incidence. Many patients with IBD have impaired immunity, leading to suboptimal response to vaccines. Hepatitis B Virus (HBV) vaccin...OBJECTIVES: Inflammatory bowel disease (IBD) is a global health concern with increasing incidence. Many patients with IBD have impaired immunity, leading to suboptimal response to vaccines. Hepatitis B Virus (HBV) vaccination has been part of compulsory childhood immunization program since 1990 in Oman. Given the concerns about vaccine immunogenicity in patients with IBD, we designed this study to quantify the immune response to scheduled HBV vaccination in Omani patients with IBD and compare it with that in a matching control cohort of healthy Omani blood donors. METHODS: This retrospective case-control study was conducted from 1 January to 31 May 2024, at Sultan Qaboos University Hospital. We enrolled a total of 252 participants: 126 patients with IBD and 126 controls. Baseline demographics, comorbidities, and viral serologies before and after vaccination were collected. The primary outcome was long term immune response to HBV vaccination. Secondary outcomes included identifying factors associated with suboptimal vaccine response. RESULTS: Durable protective immune response to HBV vaccine was achieved in 29 (23.0%) patients with IBD and 109 (86.5%) controls. Prednisolone and esomeprazole therapies were both significantly associated with suboptimal vaccine response ( 0.016 and < 0.001, respectively). There was no significant correlation between low immunogenicity to HBV vaccine and age, sex, type of IBD, comorbidities, or body mass index. CONCLUSIONS: Omani patients with IBD show markedly reduced long-term immunogenicity to HBV vaccination. Esomeprazole and corticosteroid therapies may be associated with this diminished response. These findings highlight the importance of reassessing the immunogenicity to HBV vaccination, and potentially other protective vaccinations, in all patients with IBD as part of their standard of care.
OBJECTIVES: Antenatal care (ANC) visits during pregnancy aim to identify and address factors associated with unsafe pregnancy while educating pregnant women on the nuances of pregnancy and motherhood. The recommended num...OBJECTIVES: Antenatal care (ANC) visits during pregnancy aim to identify and address factors associated with unsafe pregnancy while educating pregnant women on the nuances of pregnancy and motherhood. The recommended number of visits varies across different countries. We compared the adverse maternal and fetal outcomes in participants with adequate ANC visits to the Focused ANC (FANC) model by the World Health Organization with those in the adequate and adequate plus categories of the Adequacy of the Prenatal Care Utilization (APNCU) index, to evaluate if the number of visits had any influence on these outcomes. METHODS: We conducted a prospective observational study among consenting participants who had received one or more antenatal visits elsewhere before presenting to our hospital for further care between January 2021 and September 2022. We collected details on previous pregnancy, prior ANC visits, adverse maternal, and fetal outcomes after delivery, and then statistically analyzed the data. Categorical variables were analyzed using the chi-square test, and the level of significance was set at ≤ 0.05 with a confidence interval of 95%. RESULTS: A total of 500 participants were included. Of these, 2.0%, 13.4%, 46.6%, and 38.0% received adequate plus, adequate, intermediate, and inadequate prenatal care, respectively. There was a statistically significant difference between participants with adequate visits as per the FANC model and those with adequate and adequate plus visits as per the APNCU index in the distribution of high-risk factors in the index pregnancy, such as anemia, hypertensive disorder, and gestational diabetes mellitus. Similarly, statistically significant differences were found between adverse maternal outcomes like post-partum hemorrhage and intensive care unit admission, and adverse neonatal outcomes like preterm birth, low birth weight, birth asphyxia, neonatal hypoglycemia, meconium aspiration, neonatal intensive care unit admission, and stillbirth. CONCLUSIONS: Although the number of participants receiving adequate ANC based on the FANC model was greater than those in the adequate and adequate plus categories according to the APNCU index, the frequency of adverse maternal and fetal outcomes was higher in the FANC model. This most likely indicates that less frequent ANC visits are probably inadequate for the timely identification of issues of concern, and therefore for preventing adverse outcomes.
Oman identified child maltreatment as a national health priority almost two decades ago and has since set in motion various measures to address the issue. These measures include capacity-building for healthcare professio...Oman identified child maltreatment as a national health priority almost two decades ago and has since set in motion various measures to address the issue. These measures include capacity-building for healthcare professionals, establishing a governance system for response and treatment, and creating a legal framework and database for reporting cases. This review documents the efforts made by the Ministry of Health and other stakeholders to manage child maltreatment. It benchmarks the various initiatives against the INSPIRE Strategy's key components: Implementation and enforcement of laws, Norms and values, Safe environments, Parent and caregiver support, Income and economic strengthening, Response and support services, and Education and life skills. Data were collected by reviewing the literature and information by examining available literature on child protection in Oman, relevant policies and regulations, and implemented programs identified by stakeholders. The findings indicate that the child protection system aligns with the INSPIRE strategies, but improvements are needed in coordination with stakeholders. An electronic case management system is urgently required to enhance cooperation, alongside capacity-building efforts for professionals engaged in child care.
OBJECTIVES: Given the increasing prevalence of breast cancer, understanding why women perform or do not perform breast self-examination (BSE) is essential to promote self-care. This study explored the perceptions of prim...OBJECTIVES: Given the increasing prevalence of breast cancer, understanding why women perform or do not perform breast self-examination (BSE) is essential to promote self-care. This study explored the perceptions of primary healthcare workers about barriers and facilitators to performing BSE in Oman and identified potential interventions to promote BSE. METHODS: A qualitative study using four focus group discussions was conducted with 30 healthcare workers (nurses, physicians, administrators, and radiographers) from primary healthcare centers in Muscat. Discussions were audio-recorded, transcribed, and analyzed thematically analyzed using constructs from the Health Belief Model. RESULTS: Barriers to BSE included inadequate knowledge of correct BSE techniques (low self-efficacy), limited access to accurate information and professional recommendations (lack of cues to action), sociocultural stigma, fear of cancer (perceived barriers), and low motivation. Facilitators included higher educational level and personal exposure to breast cancer (perceived susceptibility), peer and family support, and positive healthcare experiences (perceived benefits). Religious beliefs played dual roles, acting both as fatalistic barriers and as motivators for self-care. Participants expressed uncertainty about the effectiveness of BSE compared to other screening methods but acknowledged its role in early detection and monitoring disease progression. Suggested strategies included introducing BSE into educational curricula, strengthening its role in clinical practice, engaging communities, and conducting public health awareness campaigns. CONCLUSIONS: BSE remains a useful tool for women to detect breast abnormalities. Enhanced efforts are recommended to integrate BSE education and practice across academic institutions, workplaces, healthcare facilities, and community services.
OBJECTIVES: Artificial intelligence (AI) platforms based on large language models such as ChatGPT, are increasingly being used by both the public and medical professionals to obtain medical information. This rapid growth...OBJECTIVES: Artificial intelligence (AI) platforms based on large language models such as ChatGPT, are increasingly being used by both the public and medical professionals to obtain medical information. This rapid growth in reliance makes it essential to systematically evaluate the accuracy and clinical reliability of AI-generated medical content. The objective of this study was to evaluate the accuracy of responses provided by ChatGPT regarding prevention, screening, treatment, and risk factors of common gynecological cancers. The assessment focused primarily on the use of ChatGPT by primary care providers and the public with limited subject-specific knowledge. METHODS: We evaluated the reliability of ChatGPT (version 3.5) in answering questions about two of the most common gynecological cancers. ChatGPT was posed a total of 40 questions on the prevention, screening, and treatment of endometrial cancer (20 questions) and cervical cancer (20 questions). Responses were independently reviewed and categorized as accurate, inadequate, or inaccurate by five physicians with a mean of 18 ± 3 years of experience in gynecological oncology. Reviewers provided reasons for deeming some responses as inadequate or inaccurate. RESULTS: Overall, 20 out of 40 (50%) responses by ChatGPT 3.5 were regarded as either inaccurate or inadequate. Most of the deficient responses were related to questions on the treatment of the two cancers, while responses to questions about prevention were mostly accurate. CONCLUSIONS CH: atGPT may provide accurate information about prevention of gynecological cancers, but the public and health professionals should not rely on its responses to make medical decisions, as many responses in this domain were inadequate or inaccurate. Consultation with qualified physicians or specialists is essential for individualized decision-making. Medical information sourced from AI tools such as ChatGPT should be integrated with clinician oversight to improve reliability.
OBJECTIVES: Genetic predisposition is one of the factors that contribute to the etiology of heart failure (HF). This study aimed to compare the prevalence of human leukocyte antigen (HLA)-DQ2 and HLA-DQ8 haplotypes in pa...OBJECTIVES: Genetic predisposition is one of the factors that contribute to the etiology of heart failure (HF). This study aimed to compare the prevalence of human leukocyte antigen (HLA)-DQ2 and HLA-DQ8 haplotypes in patients with HF with reduced ejection fraction (HFrEF) and healthy controls. METHODS: This case control study was conducted in Western Türkiye, and included 100 participants: 50 patients diagnosed with HFrEF and 50 healthy matching controls. The frequency and distribution of HLA-DQ2 and HLA-DQ8 were compared between the groups. RESULTS: No statistically significant differences in haplotype distribution were observed between patients and controls for any of the assessed parameters. HLA-DQ2 positivity was observed in 16.0% of the HFrEF group and 20.0% of controls, while HLA-DQ8 positivity was found in 24.0% and 26.0%, respectively. Subgroup analyses stratified by sex and HF etiology also did not reveal differences. CONCLUSIONS: The HLA-DQ2 and HLA-DQ8 haplotypes are not significantly associated with HFrEF in the population studied. Therefore, the utility of these haplotypes as standalone markers for early detection of HFrEF appears limited.