Vol.1 2013 Issue 1 (January-June)

Permanent URI for this collectionhttps://repository.iau.edu.sa/handle/123456789/50

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A concise history of genome wide association studies
(2013) Al-Ali, Amein; Koeleman, Bobby; Asselbergs, Folkertvan der Laan, Sander
Genome-wide association studies (GWASs) have had a tremendous impact on the pace of genomic research of common diseases. The number of identified genetic variants associated has grown exponentially. For some diseases, such as coronary heart disease (CHD), the number of known susceptibility genes has grown from a handful to more than 45. A substantial number of genes point to unexpected mechanism involved, and functional data from the "Encyclopedia of Deoxyribonucleic Acid Elements" (ENCODE) project is helpful in uncovering the functional relevance to diseases. The rapidly evolving techniques have made the shift from family-based linkage studies to GWASs possible. Advanced single nucleotide polymorphism (SNP) arrays containing hundreds of thousands of variants efficiently assess the extent of genome-wide disease-associated genetic variation. Along with SNP arrays came breakthroughs in statistical analyses and study designs leading to the exponential growth of the GWAS catalog. Pathway analyses of GWASs results with manually curated software programs have been insightful. Next-generation sequencing (NGS) of the exome or even the whole genome will undoubtedly shift the balance in focus from common variants to more rare variations impacting common diseases. Moreover, the combined power of GWASs, sequencing, pathway analysis, and functional data to study common disease shall only be limited by our ability to comprehend.
Hormonal, metabolic and clinical profile of Saudi women with polycystic ovary syndrome
(2013) Al-Mulhim, Abdulaziz; Abul-Heija, Adel; Al-Talib, Ayman; Al-Turki, HaifaGasim, Turki
bjective: To establish the hormonal, metabolic and clinical profile for Saudi women with polycystic ovary syndrome (PCOS). Design: This is a prospective, cross-sectional study conducted at the University Hospital. All women were seen at the gynecology clinic. One hundred women aged between 18 and 45 years were included in the study; 50 women with polycystic ovary disease (PCOS) comprised the study group and 50 women without PCOS comprised the control group. The hormonal, metabolic and clinical profiles were assessed for both groups. Results: There are significantly higher levels of luteinizing hormone, prolactin, free testosterone dehydroepianosterone sulfate, 17?-hydroxy progesterone and fasting insulin in the study group. There were no differences in the levels of total testosterone, estradiol and cortisone levels between both groups. The levels of follicular stimulating hormone and sex hormone binding globulin were significantly lower in the study group. There were no differences in the blood sugar level, cholesterol, triglycerides and low- and high-density lipoproteins. The womens' ages, body mass index, blood pressure, uterine dimensions and endometrial thickness were similar in both groups. The size of both ovaries was significantly greater in the study group. There were more follicles in the ovaries of the study group. Conclusion: Hormonal profile of Saudi women with PCOS was similar with what is already published in the medical literature. But, despite the fact that Saudi women with and without PCOS are overweight, they do not suffer from raised blood pressure and metabolic syndrome; this may be due to the fact that women included in this study were relatively young and the sample size might be too small to draw effective conclusions.
Is hyperleptinemia a risk factor for hypertension
(2013) Afzal, NasirRafique, Nazish
Major risk factors of hypertension (HTN) including obesity, insulin resistance, renal pathology, increased sympathetic nerve activity (SNA) and vascular inflammation are associated with hyperleptinemia. Therefore hyperleptinemia may act as a mediator of blood pressure, linking body fat mass with changes in insulin action, sympathetic neuronal outflow and renal pathology. bjective: The objective of our study was to explore the relationship between hyperleptinemia and HTN in Pakistani population. Materials and Methods: It was a case control study of 6 months duration, carried out at Shifa College of Medicine and Shifa International Hospital, Islamabad. One hundred and four male subjects, 52 with HTN and 52 without HTN were included in this study. Leptin levels were measured by enzyme-linked immunosorbent assay (ELISA) technique. The relationship of leptin (LEP), body mass index (BMI), fasting blood sugar (FBS) and cholesterol levels with blood pressure were assessed. Results: Patients with HTN versus patients without HTN had a higher body mass index (28.0 ± 0.12 to 24.11 ± 0.27 kg/m ² ), FBS (169.20 ± 7.34 to 127.50 ± 2.30 mg/dl), total cholesterol (160 ± 3.72 to 158 ± 2.71 mg/dl) and LEP (53.40 ± 5.32 to 21.65±3.50 ng/ml) levels. In univariate analysis, obesity, hyperglycemia and hyperleptinemia (with P values of 0.000, 0.001, 0.000, respectively), whereas in multivariate analysis, hyperglycemia and hyperleptinemia (with P values of 0.006 and 0.001, respectively) were risk factors for HTN. Our study also showed that hyperleptinemia is an independent risk factor for HTN. Conclusions: We observed a strong positive relationship between hyperleptinemia and hypertension, thereby indicating that increased leptin levels could be considered as a risk factor for HTN and cardiovascular disease. Further studies are needed to probe the underlying pathophysiological mechanisms responsible for hyperleptinemia in HTN.
Kawasaki disease A university hospital experience
(2013) Lardhi, Amer
Kawasaki disease (KD) is an acute vasculitis of unknown etiology; it is the leading cause of acquired heart disease in children. KD is poorly understood in the Kingdom of Saudi Arabia (KSA). bjective: To examine the epidemiological, clinical characteristics, and outcomes of KD in children diagnosed and treated at a tertiary care hospital in eastern province of the KSA. Materials and Methods: A retrospective study of 35 patients admitted to the hospital with the diagnosis of KD was conducted at King Fahd Hospital of the University, Al-Khobar, KSA, from 1992 to 2012. Demographics, clinical features, laboratory findings, treatment, and patient outcome were analyzed. Results: The incidence was 7.4 per 100,000 children under five. The male-to-female ratio was 1.9:1. The median age at diagnosis was 15 months, and the diagnosis was made after a mean of 8.1 days of fever. A seasonal peak during the winter-spring months was observed. Thirty-two patients (91%) had classical presentation of KD. Conjunctivitis, changes in the oropharynx, and a polymorphous rash were the most common manifestations. Cardiac involvement was detected in 51%, with coronary artery abnormalities (CAA) noted in 34%. Patients were treated with immunoglobulin and aspirin. The CAA regressed in all patients but one by 12 months. This one child still had persistent aneurysms at 2 years of follow-up. Conclusion: The findings of this study showed that the basic clinical and epidemiological features associated with KD, in the KSA, were similar to those reported from regions in other parts of the world. A nationwide survey, however, is necessary to investigate the overall incidence, potential risk factors, and magnitude of KD disease in the KSA.
King Abdullah Bin Abdulaziz Arabic health encyclopedia (www.kaahe.org): A reliable source for health information in Arabic in the internet
(2013) Alsughayr, Abdulrhman
Launching the Official Scientific Journal of the University of Dammam
(2013) Al-Rubaish, Abdullah
Molecular classification of breast cancer: An overview with emphasis on ethnic variations and future perspectives
(2013) Ahmed, Ayesha; Al-Tamimi, DalalShawarby, Mohamed
Morphologically identical breast cancers can display divergent clinical outcomes and responses to therapy. This can predominantly be attributed to molecular class differences that exist amongst histologically similar cancer types. Consequently, molecular classification can be more powerful than histopathology as a predictive factor for the different treatments. This article reviews the molecular classification of breast cancer and emphasizes that ethnic variations may exist in molecular class prevalence patterns. It also highlights key insights into the currently defined molecular classes as provided by ongoing research on primary breast cancers using recent state-of-the-art technology. Such research is revealing that significant molecular heterogeneity may exist within the molecular classes themselves. More diverse ethnic variations may also be unraveled. The results of ongoing and upcoming research may provide more precise prognostic and predictive information about breast cancer and perhaps a breakthrough step toward "personaliziation" of breast cancer treatment. Forty-one relevant articles (2000-2012) extracted through PubMed and Google advanced searches and at our institute's library were utilized to prepare the article, along with results of published and ongoing research by the authors.
Myalgic encephalomyelitis chronic fatigue syndrome Review of history, clinical features, and controversies
(2013) Speight, Nigel
Myalgic encephalomyelits/chronic fatigue syndrome (ME/CFS) has been both a medical mystery and a source of controversy in Western medicine for over 50 years. This article reviews the major historical developments over this period, describes the clinical pattern and spectrum of severity, and then explores the current major controversies surrounding the subject.
A new Journal of Medicine and Medical Sciences
(2013) Al-Quorain, AbdulazizBella, Hassan
A perspective on wellness A physicians prescription for enhanced patient care
(2013) Vuturo, Anthony
With the beginning of the 21st century, medicine has seen the expansion of clinical interventions that could not have been predicted. Physicians trained in allopathic medicine embrace integrative medicine, prospective medicine, holistic medicine, and various permutations on comprehensive medicine. Recommendation for promoting wellness is often ignored. Wellness prescription complements every physician's practice irrespective of specialty. It requires physician to incorporate wellness strategy as a primary intervention. A prescription for wellness should include promotion of physical activity, healthy nutrition practices, management of stress, enhancements of individual relationships and recognizing awareness between mind, body, and spiritual components.
Presentation of conjunctival amyloidosis as bilateral ptosis and cicatricial entropion
(2013) Ajith, H; Sambhav, KumarBhandari, Vipul
Primary localized amyloidosis of the conjunctiva is a rare occurrence. This case report describes a 35-year-old male, who presented with drooping of both upper eyelids and a pricking sensation in the left eye. Examination of the conjunctiva showed granular swellings. The biopsy revealed amyloid deposition. Systemic amyloidosis was ruled out on further investigation. To our knowledge, this is the first report of amyloidosis of the conjunctiva and tarsus, presenting as ptosis with entropion, from India.
Primary torsion of the omentum mimicking acute appendicitis in a female child Case report and review of literature
(2013) Mitra, Dilip; Al Buainain, Hessah; Elshafei, HossamPal, Kamalesh
Primary torsion of the omentum is an unusual cause of an acute abdomen and commonly mimics acute appendicitis. A case of primary omental torsion seen in a seven-year-old girl is discussed. All the signs and symptoms mimicked acute appendicitis. The patient underwent emergency laparotomy in which a normal appendix and serous fluid in the pelvis were observed. The pathological diagnosis was a primary torsion of the omentum which was excised. This case helps to emphasize the importance of a routine exploration of the abdomen when finding a normal appendix at the time of laparotomy.
Role of universities in postgraduate training programs
(2013) Parashar, Shyam
β 2 adrenergic receptor gene polymorphisms in normal and in patients with myocardial infarction in the eastern province of Saudi Arabia
(2013) Al-Rubaish, Abdullah; Al-Shehri, Abdullah; Al-Ali, Abdullah; Al-Ali, Amein; Al-Nafaie, Awatif; Larbi, Emmanuel; Al-Muhanna, Fahd; Asselberg, Folkert; Al-Faraidy, KhalidShakil, Mohammed
Single nucleotide polymorphisms (SNPs) of the ?₂ -adrenergic receptor (?₂ -AR) gene have been implicated in the pathogenesis of cardiovascular diseases. This study evaluated two ?₂ -AR SNPs in association with myocardial infarction (MI), namely arginine-glycine (G16R) substitution at codon 16 and glutamine-glutamic (Q27E) substitution at condon 27. bjectives: Therefore, our main objective was to determine the association of these two SNPs among patients with MI with and without type 2 diabetes (T2D). Materials and Methods: Blood samples were collected from 201 MI patients with and without diabetes and from 115 controls and the ?₂ -AR gene polymorphisms at codon 16 and codon 27 were assessed by restriction fragment length polymorphism. The ?² test was used to compare differences between groups. Results: The SNPs did not deviate significantly from Hardy-Weinberg equilibrium in the control population. The allele and genotype frequencies of the ?₂ -AR gene polymorphism at codon 16 (G16R) was significantly different between MI cases and controls (?² = 10.495, P < 0.05 and ?² = 8.849, P < 0.05, respectively). No significant difference in genotype and allele frequencies at codon 27 was shown between these two groups (?² = 2.661, P ? 0.05 and ?² = 1.587, P ? 0.05, respectively). When the MI patients with and without T2D were pooled together, genotype distribution was different between cases and controls at codon 16 (?² = 4.631, P = 0.099) and codon 27 (?² = 7.247, P = 0.027). However, no significant differences were found in allele frequencies for codon 16 and codon 27 between the two groups (?² = 0.628, P = 0.428; ?² = 0.33, P = 0.565, respectively). Conclusion: Our findings indicate a moderate association of the ?₂ -AR G16R gene polymorphism with MI suggesting that this gene plays a universal role in the development of MI across ethnicities. However, there was no association of ?₂ -AR G16R gene polymorphism with diabetic patients with MI.

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