Sultan Qaboos University Medical Journal, an internationally peer-reviewed multidisciplinary journal, is published quarterly in print and online with free access to full text articles. Its aims are: to be an internationally recognised regional medium of biomedical communication; to encourage medical research and publication in Oman, the Gulf and further afield, and to create awareness of new developments among health professionals in Oman and beyond. SQUMJ is listed in PubMed and indexed in SCOPUS, the Directory of Open Access Journals, the Al Manhal database of Arab journals and the WHO Index Medicus for the Eastern Mediterranean Region. SQUMJ DOES NOT CHARGE AUTHORS FOR SUBMISSION OR PUBLICATION.
SQUMJ is an Open Access Journal. This means that all content is freely available without charge to the user or his/her institution. Users are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles in this journal without asking prior permission from the publisher or the author. This is in accordance with the Budapest Open Access Initiative (BOAI) definition of open access.
The Role of Inflammatory Mediators in the Pathogenesis of Alzheimer’s Disease
(Review) Gholamreza Azizi, Shadi S. Navabi, Ahmed Al-Shukaili, Mir H. Seyedzadeh, Reza Yazdani and Abbas Mirshafiey
ABSTRACT: Alzheimer’s disease (AD), a neurodegenerative disorder associated with advanced age, is the most common cause of dementia globally. AD is characterised by cognitive dysfunction, deposition of amyloid plaques, neurofibrillary tangles and neuro-inflammation. Inflammation of the brain is a key pathological hallmark of AD. Thus, clinical and immunopathological evidence of AD could be potentially supported by inflammatory mediators, including cytokines, chemokines, the complement system, acute phase proteins and oxidative mediators. In particular, oxidative mediators may actively contribute to the progression of AD and on-going inflammation in the brain. This review provides an overview of the functions and activities of inflammatory mediators in AD. An improved understanding of inﬂammatory processes and their role in AD is needed to improve therapeutic research aims in the field of AD and similar diseases.
A Call for More Diploma Nurses to Attain a Baccalaureate Degree
Advancing the nursing profession in Oman(Sounding Board) Joy K. Kamanyire and Susan Achora
ABSTRACT: The healthcare needs of the Omani population are evolving, particularly with regards to changes in disease complexity, advances in technology and the enhanced delivery of healthcare services. Nurses now need to adapt to a fundamental shift in the provision of patient-centred care. In line with lifelong learning goals, registered nurses in Oman at the diploma level should seek to obtain a more advanced qualification, for instance a Bachelor of Science in Nursing, to ensure they possess the requisite skills and knowledge to keep abreast of new developments in healthcare management. Challenges involved in this transition and suggestions to overcome these potential obstacles are discussed in this article in order to inform nursing education stakeholders. Recommendations to ensure the success of bridging programmes are also suggested.
Skeletal Muscle Metastasis from Renal Cell Carcinoma
21 cases and review of the literature(Original Study) Tamara Miner Haygood, Mohamed Sayyouh, Jason Wong, Jennifer C. Lin, Aurelio Matamoros, Carl Sandler and John E. Madewell
ABSTRACT:Objectives: This study aimed to raise radiologists’ awareness of skeletal muscle metastases (SMM) in renal cell carcinoma (RCC) cases and to clarify their imaging appearance. Methods: A retrospective analysis was undertaken of 21 patients between 44–75 years old with 72 SMM treated from January 1990 to May 2009 at the MD Anderson Cancer Center in Houston, Texas, USA. Additionally, 37 patients with 44 SMM from a literature review were analysed. Results: Among the 21 patients, the majority of SMM were asymptomatic and detected via computed tomography (CT). Mean metastasis size was 18.3 mm and the most common site was the trunk muscles (83.3%). The interval between discovery of the primary tumour and metastasis detection ranged up to 234 months. Peripheral enhancement (47.1%) was the most common post-contrast CT pattern and non-contrasted CT lesions were often isodense. Magnetic resonance imaging (MRI) characteristics were varied. Five lesions with available T1-weighted pre-contrast images were hyperintense to the surrounding muscle. Other organ metastases were present in 20 patients. Of the 44 SMM reported in the literature, the majority were symptomatic. Average metastasis size was 53.4 mm and only 20.5% of SMM were in trunk muscles. The average interval between tumour discovery and metastasis detection was 101 months. Other organ metastases were recorded in 17 out of 29 patients. Conclusion: SMM should always be considered in patients with RCC, even well after primary treatment. SMM from RCC may be invisible on CT without intravenous contrast; contrast-enhanced studies are therefore recommended. SMM are often hyperintense to the surrounding muscle on T1-weighted MRI scans.
Keywords: Renal Cell Carcinoma; Skeletal Muscle; Metastasis; United States.
Gallium-67 Scintigraphy in the Era of Positron Emission Tomography and Computed Tomography
Tertiary centre experience(Original Study) Badriya Al-Suqri and Naima Al-Bulushi
ABSTRACT:Objectives: Although 18F-fluorodeoxyglucose positron emission tomography (PET)/computed tomography (CT) has largely replaced the use of gallium-67 (67Ga) scintigraphy in the evaluation and follow-up of lymphoma patients, 67Ga scans are still of value, particularly in countries where no PET/CT service is available. The current study presents the experience of a tertiary care centre using 67Ga scintigraphy for the evaluation of lymphomas and infections. Methods: A retrospective review was conducted of all 67Ga scans performed between 2007 and 2011 at the Royal Hospital in Muscat, Oman. Images and reports of 67Ga scans were compared to clinical and radiological follow-up data including CT and PET/CT scans and biopsies when available. Results: A total of 74 patients were referred for 67Ga scintigraphy during this period with 12 patients excluded due to lack of follow-up data, resulting in 62 patients. Among these patients, 90 67Ga scans were performed, including 59 for lymphoma, 29 for infection and two for sarcoidosis assessment. Of the infection assessment scans, 22 were performed to assess pyrexia of unknown origin and seven for follow-up after known infections. Sensitivity and specificity were found to be 80% and 88%, respectively, for the lymphoma assessment scans. For the infection assessment scans, sensitivity and specificity were reported to be 80% and 100%, respectively. Conclusion: Results from this study were consistent with other reported rates of 67Ga scan sensitivity and specificity in the evaluation of lymphomas and infections. This indicates that 67Ga scintigraphy is a useful tool for these types of evaluations when PET/CT services are not available. Keywords: Gallium-67-Citrate; Gallium Radioisotopes; Fluorodeoxyglucose F18; Scintigraphy; Lymphoma; Infection; Fever of Unknown Origin; Oman.
Correlation between Carotid Artery Intima-Media Thickness and Luminal Diameter with Body Mass Index and Other Cardiovascular Risk Factors in Adults
(Original Study) Sameeah A. Rashid and Sarbast A. Mahmud
ABSTRACT:Objectives: This study aimed to examine the correlation between carotid artery intima-media thickness (IMT) and luminal diameter (LD) with body mass index (BMI) and other cardiovascular risk factors. Methods: This observational cross-sectional study took place between June 2013 and March 2014 in the Radiology Department of Rizgary Teaching Hospital in Erbil, Iraq. Non-randomly selected subjects ≥20 years old (n = 140) were divided into BMI groups and evaluated for the following cardiovascular risk factors: gender, age, hypertension (HTN), diabetes (DM), smoking, alcohol consumption, blood pressure, serum total cholesterol and triglyceride (TG) levels. IMT and LD of the extracranial carotid arteries were measured by B-mode ultrasonography. Results: The mean IMT was 0.8 ± 0.3 mm, ranging from a total mean of 0.7 mm in the normal BMI group to 1.0 mm in the extremely obese group. A significant correlation was found between IMT and BMI (P = 0.04), but not between BMI and LD (P = 0.3). No significant difference in mean IMT or LD was seen between genders. Significant correlations were found between IMT and age, HTN, DM, high serum cholesterol and TG levels (P <0.001). An increase of one BMI unit caused a 0.009 mm increase in IMT and an increase of one year in age caused a 0.011 mm increase in IMT. Conclusion: Age, obesity, HTN, DM, high serum cholesterol and TG levels were found to have an impact on carotid IMT, which is a strong marker for the early development of atherosclerosis.
Keywords: Carotid Intima-Media Thickness; Ultrasonography; Atherosclerosis; Body Mass Index; Risk Factors; Iraq.
Changing Survival Rate of Infants Born Before 26 Gestational Weeks
Single-centre study(Original Study) Asad Rahman, Mohamed Abdellatif, Sharef W. Sharef, Muhammad Fazalullah, Khalfan Al-Senaidi, Ashfaq A. Khan, Masood Ahmad, Mathew Kripail, Mazen Abuanza and Flordeliza Bataclan
ABSTRACT:Objectives: This study aimed to evaluate the changing survival rate and morbidities among infants born before 26 gestational weeks at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. Methods: This retrospective study assessed the mortality and morbidities of all premature infants born alive at 23–26 gestational weeks at SQUH between June 2006 and May 2013. Infants referred to SQUH within 72 hours of birth during this period were also included. Electronic records were reviewed for gestational age, gender, birth weight, maternal age, mode and place of delivery, antenatal steroid administration, morbidity and outcome. The survival rate was calculated and findings were then compared with those of a previous study conducted in the same hospital from 1991 to 1998. Rates of major morbidities were also calculated. Results: A total of 81 infants between 23–26 gestational weeks were admitted to the neonatal unit during the study period. Of these, 58.0% were male and 42.0% were female. Median gestational age was 25 weeks and mean birth weight was 770 ± 150 g. Of the 81 infants, 49 survived. The overall survival rate was 60.5% compared to 41% reported in the previous study. Respiratory distress syndrome (100.0%), retinopathy of prematurity (51.9%), bronchopulmonary dysplasia (34.6%), intraventricular haemorrhage (30.9%) and patent ductus arteriosus (28.4%) were the most common morbidities. Conclusion: The overall survival rate of infants between 23–26 gestational weeks during the study period had significantly improved in comparison to that found at the same hospital from 1991 to 1998. There is a need for the long-term neurodevelopmental follow-up of premature infants. Keywords: Extremely Premature Infants; Neonates; Survival Rate; Morbidity; Oman.
Social Networking Addiction among Health Sciences Students in Oman
(Original Study) Ken Masters
ABSTRACT:Objectives: Addiction to social networking sites (SNSs) is an international issue with numerous methods of measurement. The impact of such addictions among health science students is of particular concern. This study aimed to measure SNS addiction rates among health sciences students at Sultan Qaboos University (SQU) in Muscat, Oman. Methods: In April 2014, an anonymous English-language six-item electronic self-reporting survey based on the Bergen Facebook Addiction Scale was administered to a non-random cohort of 141 medical and laboratory science students at SQU. The survey was used to measure usage of three SNSs: Facebook (Facebook Inc., Menlo Park, California, USA), YouTube (YouTube, San Bruno, California, USA) and Twitter (Twitter Inc., San Francisco, California, USA). Two sets of criteria were used to calculate addiction rates (a score of 3 on at least four survey items or a score of 3 on all six items). Work-related SNS usage was also measured. Results: A total of 81 students completed the survey (response rate: 57.4%). Of the three SNSs, YouTube was most commonly used (100%), followed by Facebook (91.4%) and Twitter (70.4%). Usage and addiction rates varied significantly across the three SNSs. Addiction rates to Facebook, YouTube and Twitter, respectively, varied according to the criteria used (14.2%, 47.2% and 33.3% versus 6.3%, 13.8% and 12.8%). However, addiction rates decreased when workrelated activity was taken into account. Conclusion: Rates of SNS addiction among this cohort indicate a need for intervention. Additionally, the results suggest that addiction to individual SNSs should be measured and that workrelated activities should be taken into account during measurement. Keywords: Addictive Behaviors; Internet; Social Networking; Social Media; Students; Oman.
Rigid Spine Syndrome among Children in Oman
(Original Study) Roshan Koul, Dilip Sankhla, Suad Al-Jahdhami, Renjith Mani, Rana A. Rahim, Saif Al-Yaarubi, Hussein Al-Kindy, Khalid Al-Thihli and Amna Al-Futaisi
ABSTRACT:Objectives: Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome (RSS) among children in Oman. Methods: Data on children diagnosed with RSS were collected consecutively at presentation between 1996 and 2014 at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A diagnosis of RSS was based on the patient’s history, clinical examination, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles, particularly the erector spinae, was the diagnostic feature; this was noted using magnetic resonance imaging of the spine. Children with disease onset in the paraspinal muscles were labelled as having primary RSS or rigid spinal muscular dystrophy. Secondary RSS was classified as RSS due to the late involvement of other muscle diseases. Results: Over the 18-year period, 12 children were included in the study, with a male-to-female ratio of 9:3. A total of 10 children were found to have primary RSS or rigid spinal muscular dystrophy syndrome while two had secondary RSS. Onset of the disease ranged from birth to 18 months of age. A family history was noted, with two siblings from one family and three siblings from another (n = 5). On examination, children with primary RSS had typical features of severe spine rigidity at onset, with the rest of the neurological examination being normal. Conclusion: 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. Keywords: Rigid Spine Syndrome; Rigid Spine Muscular Dystrophy; Selenoprotein; Children; Magnetic Resonance Imaging; Oman.
Modified Goff Symptom Index
Simple triage tool for ovarian malignancy(Original Study) Jyothi Shetty, Priyadarshini P., Deeksha Pandey and Manjunath A. P.
ABSTRACT:Objectives: Ovarian cancer often goes undiagnosed or misdiagnosed in the early stages. The present study aimed to validate a modified version of the Goff Symptom Index (GSI) in an Indian population. Methods: This prospective case-control study was conducted between July 2010 and June 2012 in a university hospital in Manipal, Karnataka, India. A total of 305 inpatients admitted for ovarian pathology investigations and outpatients undergoing routine gynaecological check-ups were included in the study. The modified GSI (MGSI) was used to investigate the presence, severity, frequency and duration of 10 ovarian cancer symptoms on a scale of 1–5. Four additional symptoms were included with those of the original GSI (two symptoms from a previous MGSI and two new symptoms). Patients were regarded as positive for ovarian cancer if symptoms occurred >12 times per month and time since onset was <1 year. Histopathology confirmed the diagnosis of ovarian tumours. Results: A total of 13 patients were excluded. The final sample (n = 292) was divided into a test group (n = 74) and a control group (n = 218) based on histopathology. Within the controls, 144 women were found to have benign tumours. The MGSI was positive in 71.6% of the test group as opposed to only 11.5% of the control group. The addition of two symptoms (loss of appetite and weight) to the GSI increased the test’s sensitivity from 71.6% to 77% without compromising specificity (88.5%). Conclusion: Based on these findings, the addition of two new symptoms (loss of appetite and weight) to the GSI is proposed in order to increase the test’s sensitivity. However, the addition of urinary symptoms to the GSI requires further validation.
Keywords: Ovarian Cancer; Diagnosis; Symptom Assessment; Triage; Algorithm; Reliability and Validity; India.
Medical Students’ Perceptions of Peer Assessment in a Problem-based Learning Curriculum
(Original Study) Yasin I. Tayem, Henry James, Khalid A. J. Al-Khaja, Rima L. A. Razzak, Bhagath K. Potu and Reginald P. Sequeira
ABSTRACT:Objectives: Peer assessment (PA) is believed to support learning and help students develop both professionally and personally. The aim of this study was to examine medical students’ perceptions of intragroup PA in a problem-based learning (PBL) setting. Methods: This study was carried out between September and November 2014 and involved six random groups of fourth-year undergraduate medical students (n = 60) enrolled at the Arabian Gulf University in Manama, Bahrain. While working on set tasks within a curriculum unit, each student evaluated a randomly selected peer using an English language adapted assessment tool to measure responsibility and respect, information processing, critical analysis, interaction and collaborative skills. At the end of the unit, students’ perceptions of PA were identified using a specifically-designed voluntary and anonymous selfadministered questionnaire in English. Results: A total of 55 students participated in the study (response rate: 92%). The majority of students reported that their learning (60%), attendance (67%), respect towards group members (70%) and participation in group discussions (71%) improved as a result of PA. Regarding problem analysis skills, most participants believed that PA improved their ability to analyse problems (65%), identify learning needs (64%), fulfil tasks related to the analysis of learning needs (72%) and share knowledge within their group (74%). Lastly, a large proportion of students reported that this form of assessment helped them develop their communication (71%) and self-assessment skills (73%), as well as collaborative abilities (75%). Conclusion: PA was well accepted by the students in this cohort and led to self-reported improvements in learning, skills, attitudes, engagement and other indicators of personal and professional development. PA was also perceived to have a positive impact on intragroup attitudes.
Shigellosis Outbreak in Al Batinah South Governorate, Oman
Case-control study(Original Study) Idris Abaidani, Prasanna A. Raju, Issa Al-Shualli, Khalid Al-Sa’di, Nasser Al-Shaqsi and Amer Al-Khatri
ABSTRACT:Objectives: An outbreak of acute gastroenteritis due to Shigella flexneri occurred in August 2012 in the catchment area of the Wadi Sahtan Health Center in Rustaq, Al Batinah South Governorate, Oman. The aim of this study was to discover possible causes of this outbreak in the villages of Fassa, Rogh and Amk and to measure the risk of exposure among cases and controls. Methods: A case-control study was conducted in September 2012 in Fassa, Rogh and Amk. All households in the three villages were interviewed. Case and control households were compared to determine possible exposure avenues, including place of residence, source of drinking water, hand hygiene levels and practices related to drinking water, food preparation and environmental sanitation. Results: Residing in Fassa (P <0.0001; odds ratio [OR] = 4.86, 95% confidence interval [CI] = 2.22–10.63) and average hand hygiene practices (P = 0.008; OR = 13.97, 95% CI = 1.58–123.36) were associated with an increased risk of contracting shigellosis. No significant differences were found with regards to the other exposure avenues. Conclusion: This was the first study conducted in Oman regarding an outbreak of shigellosis in a community setting. The only variables that significantly impacted the risk of acute gastroenteritis were residing in Fassa and average hand hygiene practices. The source of the outbreak could not be identified. However, septic tank sanitation and water and food consumption practices were not satisfactory in the studied villages. These need to be addressed to prevent similar outbreaks of acute gastroenteritis in this region in the future.
Risky Driving Behaviours among Medical Students in Erbil, Iraq
(Original Study) Nazar P. Shabila, Kamaran H. Ismail, Abubakir M. Saleh and Tariq S. Al-Hadithi
ABSTRACT:Objectives: This study aimed to assess risky driving behaviours among medical students in Erbil, Iraq, and to explore the relationship between risky driving behaviours and perceptions of risky driving. Methods: This self-administered questionnaire-based survey was conducted from January to May 2014 among a random sample of 400 medical students at Hawler Medical University in Erbil. The questionnaire was designed to assess the frequency of engagement in 21 risky driving behaviours, the perceived risk of each behaviour and the preference for each behaviour as ranked on a 5-point scale. Results: A total of 386 students responded to the survey (response rate: 96.5%). Of these, 211 reported that they currently drove a vehicle (54.7%). Drivers most frequently engaged in the following behaviours: playing loud music (35.9%), speeding (30.4%), allowing front seat passengers to not wear seat belts (27.9%) and using mobile phones (27.7%). Least frequent driving behaviours included not stopping at a red light (3.9%), driving while sleepy (4.4%), driving after a mild to moderate intake of alcohol (4.5%) and drunk driving (6.4%). Mean risky driving behaviour scores were significantly higher among males (P <0.001) and those who owned a car (P = 0.002). The mean risk perception score was higher among >20-year-olds (P = 0.028). There was a significant positive relationship between the preference for risky behaviours and risky driving behaviours (beta = 0.44; P <0.001). Conclusion: Medical students in Erbil reported high frequencies of several serious risky driving behaviours. The preference for risky behaviours was found to be an important predictor of risky driving behaviours among medical students in Erbil.
Keywords: Medical Students; Automobile Driving; Risk-Taking; Perception; Risk Assessment; Iraq.
Health Beliefs Related to Diabetes Mellitus Prevention among Adolescents in Saudi Arabia
(Original Study) Reem L. Al-Mutairi, Amen A. Bawazir, Anwar E. Ahmed and Hoda Jradi
ABSTRACT:Objectives: The incidence of type 2 diabetes mellitus (T2DM) is growing rapidly in the Saudi population. The purpose of this study was to assess the constructs of the health belief model (HBM) as they relate to T2DM lifestyle and prevention behaviours among adolescents. Methods: A cross-sectional study was conducted between May and October 2013 among 426 non-diabetic secondary school students from randomly selected schools in Riyadh, Saudi Arabia. An Arabic version of an adapted English language questionnaire was used to assess knowledge and attitudes related to the severity and prevention of T2DM. A preventative behaviour assessment was also conducted to assess physical activity and dietary habits. Results: The majority of the students (63.4%) had at least one diabetic family member. Obesity was more frequent in males compared to females (P = 0.013). Awareness about the importance of maintaining a healthy body weight to prevent T2DM was lower in males than females (P = 0.037), although males engaged in routine exercise more often (P = 0.001). Males were less likely than females to recognise the risks for T2DM, including obesity (P = 0.030), heredity (P = 0.013) and high fat intake (P = 0.001). Conclusion: An alarmingly high number of Saudi students were unaware of T2DM severity and associated risk factors. Female students were more aware of the benefits of T2DM preventative lifestyle behaviours than males, although males engaged in routine exercise more often. Raising adolescents’ awareness about the primary prevention strategies for T2DM should be a public health priority in Saudi Arabia. The HBM could inform further research on diabetes prevention among Saudi adolescents.
Keywords: Adolescents; Diabetes Mellitus; Knowledge; Lifestyle Risk Reduction; Saudi Arabia.
(Continuing Medical Education) Ritu Lakhtakia, Ikram Burney, Asim Qureshi, Sinan Al-Azawi, Hamid Al-Badi and Shaikha Al-Hajri
ABSTRACT: This article narrates a multifaceted educational journey undertaken by a medical student through a weekly SCRAPS (surgery, clinical disciplines, radiology, anatomy, psychiatry and laboratory sciences) clinicopathological meeting held in the College of Medicine & Health Sciences at Sultan Qaboos University in Muscat, Oman. Through a presentation titled ‘Unveiling Cancer’, the multidisciplinary and interprofessional audience witnessed a simulated interaction between a medical student, a technologist peer and tutors in medicine, pathology and radiology. The presentation was based on the complexities of presentation, diagnosis and management of a patient with anaplastic large cell lymphoma, a rare type of non-Hodgkin lymphoma, in the aftermath of a bone marrow transplantation. After describing the case, the student shared with the audience a spectrum of learning objectives, which included integration in the complex world of contemporary medicine, insight into the triumphs and travails of technology (immunohistochemistry) and peer collaboration, communication and mentorship.
Keywords: Clinico-Pathological Conference; Anaplastic Large-Cell Lymphoma; Immunohistochemistry; Medical Education; Oman.
Follicular Dendritic Cell Sarcoma
Cytogenetics and pathological findings(Case Report) Achandira M. Udayakumar, Maiya Al-Bahri, Ikram A. Burney and Ibrahim Al-Haddabi
ABSTRACT: Follicular dendritic cell sarcoma (FDCS) is a rare neoplasm with a non-specific and insidious presentation further complicated by the difficult diagnostic and therapeutic assessment. It has a low to intermediate risk of recurrence and metastasis. Unlike other soft tissue sarcomas or histiocytic and dendritic cell neoplasms, cytogenetic studies are very limited in FDCS cases. Although no specific chromosomal marker has yet been established, complex aberrations and different ploidy types have been documented. We report the case of a 39-yearold woman with FDCS who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in February 2013. Ultrastructural, immunophenotypical and histological findings are reported. In addition, karyotypic findings showed deletions of the chromosomes 1p, 3q, 6q, 7q, 8q and 11q. To the best of the authors’ knowledge, these have not been reported previously in this tumour. Techniques such as spectral karyotyping may help to better characterise chromosomal abnormalities in this type of tumour.
Keywords: Chromosomal Aberrations; Cytogenetics; Follicular Dendritic Cell Sarcoma; Fine Needle Aspiration; Karyotyping; Case Report; Oman.
De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism
(Case Report) Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Sayegh and Adila Al-Kindy
ABSTRACT: The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.
Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
(Case Report) Kawther El-Shafie, Nafisa Samir, Ritu Lakhtakia, Robin Davidson, Ahmed Al-Waili, Muna Al-Mamary and Mohammed Al-Shafee
ABSTRACT: Vitamin B12 deficiency is common in developing countries and should be suspected in patients with unexplained anaemia or neurological symptoms. Dermatological manifestations associated with this deficiency include skin hyper- or hypopigmentation, angular stomatitis and hair changes. We report a case of a 28-year-old man who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in November 2013 with localised hyperpigmentation of the palmar and dorsal aspects of both hands of two months’ duration. Other symptoms included numbness of the hands, anorexia, weight loss, dizziness, fatigability and a sore mouth and tongue. There was no evidence of hypocortisolaemia and a literature search revealed a possible B12 deficiency. The patient had low serum B12 levels and megaloblastic anaemia. An intrinsic factor antibody test was negative. A gastric biopsy revealed chronic gastritis. After B12 supplementation, the patient’s symptoms resolved. Family physicians should familiarise themselves with atypical presentations of B12 deficiency. Many symptoms of this deficiency are reversible if detected and treated early.
Keywords: Vitamin B12 Deficiency; Hyperpigmentation; Atrophic Gastritis; Case Report; Oman.
Posterior Reversible Encephalopathy Syndrome in Two Omani Children with Underlying Renal Diseases
(Case Report) Mohamed A. El-Naggari, Dana Al-Nabhani, Ibtisam El-Nour, Alaa El-Manzalawy and Anas-Alwogud A. Abdelmogheth
ABSTRACT: Posterior reversible encephalopathy syndrome (PRES) is a neurological condition with a combination of clinical and radiological features. Clinical symptoms include headaches, confusion, seizures, disturbed vision or an altered level of consciousness. Classic magnetic resonance imaging (MRI) findings indicate subcortical and cortical oedema, affecting mainly the posterior cerebral region. We report two paediatric cases of PRES with underlying renal diseases presenting at the Sultan Qaboos University Hospital in Muscat, Oman, in April 2010 and August 2011. The first case was an 11-year-old girl diagnosed with systemic lupus erythematosus and the second was a six-and-a-half-year-old boy on peritoneal dialysis due to multi-drug-resistant nephrotic syndrome. Both patients were hypertensive and treated with blood pressure control medications. No residual neurological dysfunction was noted in the patients at a one-year follow-up and at discharge, respectively. The role of hypertension in paediatric PRES cases, among other important risk factors, is emphasised. Additionally, MRI is an important diagnostic and prognostic tool. Prompt diagnosis and aggressive management is fundamental to preventing permanent neurological damage.
Keywords: Posterior Reversible Encephalopathy Syndrome; Pediatrics; Peritoneal Dialysis; Systemic Lupus Erythematosus; Magnetic Resonance Imaging; Case Report; Oman.
Ruptured Rudimentary Horn Pregnancy Diagnosed by Preoperative Magnetic Resonance Imaging Resulting in Fetal Salvage
(Case Report) Silja A. Pillai, Mariam Mathew, Noreen Ishrat, Anupam Kakaria, Asim Qureshi and Gowri Vaidyanathan
ABSTRACT: Pregnancy in a rudimentary horn is very rare. The rupture of the horn during pregnancy is an obstetric emergency which can be life-threatening for both the mother and fetus. Preoperative diagnosis of such pregnancies can be challenging and they are usually diagnosed intraoperatively. We report a unique case of a 31-year-old multiparous woman who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2013 at 32 gestational weeks with abdominal pain. Ultrasonography was inconclusive. A rudimentary horn pregnancy was subsequently diagnosed via magnetic resonance imaging (MRI). An emergency laparotomy revealed haemoperitoneum and a ruptured rudimentary horn pregnancy. A live baby with an Apgar score of 2 at one minute and 7 at five minutes was delivered. The rudimentary horn with the placenta in situ was excised and a left salpingooophorectomy was performed. The postoperative period was uneventful. The authors recommend MRI as an excellent diagnostic modality to confirm rudimentary horn pregnancies and to expedite appropriate management.
Keywords: Uterus, abnormalities; Pregnancy; Magnetic Resonance Imaging; Live Birth; Case Report; Oman.
Botryoid Rhabdomyosarcoma of the Cervix
Case report with review of the literature(Case Report) Bajpai Neha, Attibele P. Manjunath, Shivarudraiah Girija and Kumar Pratap
ABSTRACT: Botryoid rhabdomyosarcoma is an aggressive malignancy that arises from embryonal rhabdomyoblasts. It is commonly seen in the genital tract of female infants and young children. Due to the young age of affected patients, this malignancy poses a management challenge as the preservation of hormonal, sexual and reproductive function is essential. There is currently no consensus regarding management. However, treatment strategies for these tumours have evolved from radical exenterative surgeries to more conservative management options. We report a case of botryoid rhabdomyosarcoma in an adolescent girl presenting to Kasturba Hospital, in Manipal, India, in August 2007 with botryoid rhabdomyosarcoma of the cervix. She was treated with surgery and adjuvant chemotherapy. The patient remained healthy until eight months after the surgery. After acquiring a varicella zoster virus infection, she died due to septic shock and multiple organ failure. Awareness of such an uncommon lesion and its clinical implications is important to avoid misdiagnosis.
Keywords: Cervix; Rhabdomyosarcoma; Surgery; Chemoradiotherapy; Case Report; India.