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ORIGINAL RESEARCH ARTICLES
Impalement injury – presentation of two new cases
Faisal Badri, Alya Al-Mazrouei, Hadeil Azam, Nisreen Alamri
May-August 2012, 5(2):173-178
DOI:10.7707/hmj.v5i2.171  
Massive penetrating trauma by impalement is a rare form of injury. As this report presents two new cases of thoracoabdominal impalement, the description of the clinical courses of these two patients, who had both been hit by iron rods falling from a great height, is used to analyse the available literature as well. There is uniform agreement that the penetrating object needs to stay in situ until management at a tertiary trauma centre can be started. The possibility of multiple lesions with the need to be treated by different surgical specialities needs to be taken into account. Damage to cardiovascular structure is the highest risk factor for a poor outcome. However, in all other situations, qualified treatment can lead to a favourable outcome, as was seen for the two patients described in this report.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  5 238 48
A study in pleiotropy – Jalili syndrome
Pratibha Nair, Tasneem Obeid, Ghazi Omar Tadmouri, Najib Al-Khaja, Ismail K Jalili
May-August 2013, 6(2):233-240
DOI:10.7707/hmj.v6i2.248  
Jalili syndrome, first described 25 years ago in a Palestinian family, is a rare autosomal recessive genetic disorder that is characterized by the comorbid appearance of cone–rod dystrophy (CRD) and amelogenesis imperfecta. To date, 71 patients with this condition belonging to 17 different families have been reported worldwide. Studies into the molecular aetiology of Jalili syndrome have identified mutations in the CNNM4 gene, located on chromosome 2q11. Other members of this protein family have been shown to be involved in mineral transport. We postulate a role for the CNNM4 protein in metal ion transport and homeostasis and especially in the transport of magnesium ions. Mutations in the gene could interfere with the depolarization process of retinal cells, as well as in the dental biomineralization process. We also show that mutations localized to the transmembrane domain of this protein result in more severe phenotypes of the syndrome, indicating an important function for this domain, probably as a transmembrane channel for metal transport. Jalili syndrome offers an example of how a single mutation in a gene is capable of affecting two independent traits by causing a defect in a single protein that carries out essentially the same function in two different tissue types. Given that 274 inherited disorders, almost exclusively reported in Arab families, have no defined genetic aetiologies as yet, and with the increasing trend of genome-wide association studies in the region, it is highly plausible that more conditions will be assumed to be manifestations of pleiotropy.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  4 441 37
EDITORIAL
Newborn screening in the Middle East and North Africa – challenges and recommendations
Rabah M Shawky
September-December 2012, 5(3):191-192
DOI:10.7707/hmj.v5i3.192  
Full text not available  [PDF] [CITATIONS]
  3 162 44
REVIEW ARTICLE
Nutrition and exercise in the treatment of type 2 diabetes mellitus
Subash Sivaraman, Martin O Weickert
May-August 2012, 5(2):131-144
DOI:10.7707/hmj.v5i2.136  
Dietary factors and insufficient exercise levels are now presumed to be the leading cause of chronic disease worldwide. Insulin resistance due to chronic energy-dense food intake combined with lack of physical activity has been proposed as the strongest single predictor for the development of type 2 diabetes mellitus (T2DM). Conversely, a healthy diet in conjunction with exercise causes weight loss and reduces abdominal fat mass and insulin resistance. Furthermore, modulating the macronutrient composition of isoenergetic foods appears to have additional important effects on insulin sensitivity and diabetes risk, concepts that are of particular interest given that long-term sustained weight loss is difficult to achieve. We here provide an update of the current literature regarding the role of nutrition and exercise in the prevention and treatment of T2DM, with a focus on currently used concepts and controversies regarding modulation of glucose metabolism and diabetes risk using lifestyle measures.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  3 176 25
REVIEW FOR THE SHEIKH HAMDAN BIN RASHID AL MAKTOUM AWARD FOR MEDICAL SCIENCES
Classical homocystinuria: newborn screening with early treatment effectively prevents complications
Sufin Yap
September-December 2012, 5(3):351-362
DOI:10.7707/hmj.v5i3.191  
Classical homocystinuria (HCU) due to cystathionine β-synthase deficiency is an inherited disorder of methionine metabolism. HCU has a reported worldwide prevalence ranging from 1 in 344 000 to 1 in 65 000 in Ireland. Molecular studies indicate a much higher incidence of between 1 in 6500–20 000 and as high as 1 in 1800 in a highly consanguinous Qatari population. Recognized complications from the untreated disease affect four major systems: ocular (ectopia lentis), skeletal (osteoporosis), vascular (thromboembolic events) and central nervous systems (intellectual disabilities). The natural history is such that 82% will have ectopia lentis by the age of 10 years, 27% will have had a clinically detected thromboembolic event by the age of 15 years, 64% will have radiological evidence of spinal osteoporosis by the age of 15 years and 23% will not survive to the age of 30 years. Long-term outcome studies on a group of Irish patients detected by newborn screening and commenced on early treatment document that homocysteine-lowering treatment is effective in preventing complications and normal intelligence is achieved. Vascular events are the major cause of morbidity and mortality. The results from a multicentre study show that homocysteine-lowering therapy is effective in significantly reducing the vascular risk during treatment. In the half-century since its discovery in 1962, homocystinuria with its devastating complications has been discovered to be a treatable condition, with the best possible clinical outcome in cases detected early by newborn screening.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  3 260 45
COMMENTARY: CANCER
Screening for cervical cancer – the experience of the United Arab Emirates
Saad Ghazal-Aswad, Thikra AM Hassan, Padmanabhan Badrinath, Satish Chandrasekhar Nair
January-April 2013, 6(1):105-110
DOI:10.7707/hmj.v6i1.128  
In most Arab countries, including Algeria, Lebanon, Libya, Morocco, Oman, Tunisia, Sudan and the United Arab Emirates (UAE), cervical cancer is the second most common malignancy seen in women. The objective of this study was to ascertain whether or not cervical cancer screening (CCS) is important in the detection of precancer and early cervical cancers, and if so, to understand how it can most effectively be implemented in the UAE. Before introducing any CCS programme, it is important to determine [1] the knowledge, attitude and practice (KAP) of physicians involved in the screening programme, [2] the actual prevalence of the precancer and cancer of the cervix, and [3] the choice of treatment modalities available. These factors will determine the likely effectiveness of screening. As in other Arab countries, women in the UAE have little awareness of Papanicolaou's stain test (also known as the Pap smear), and so many have never undergone this test. This is critical, as many patients present with advanced-stage disease in countries where awareness is low. Our observations indicate that there are significant gaps in the KAP of primary health care physicians with regard to CCS. Additionally, standards in colposcopy and cytology services are severely lacking, despite good treatment modalities. Based on this study, it is imperative that physicians receive training and that quality control measures be implemented prior to the introduction of CCS, to ensure that the programme can succeed in the UAE. In this way, the experience of the UAE should serve as a learning model for other countries in the Arab world, where CCS and prevention programmes have yet to be initiated.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 207 35
ORIGINAL RESEARCH ARTICLES
Ventricular myocyte contraction, intracellular calcium and expression of genes encoding cardiac muscle proteins in young and ageing Zucker diabetic fatty rat heart
Frank C Howarth, Muhammad A Qureshi, Zahra Hassan, Lina T Al Kury, Dmytro Isaev, Khatija Parekh, Salem R K D Yammahi, Annie John, Murat Oz, Haider Raza, Ernest Adeghate, Thomas E Adrian
May-August 2012, 5(2):165-172
DOI:10.7707/hmj.v5i2.140  
Diabetes mellitus and its complications is a serious global health problem and the total number of people with this disease is projected to rise from 171 million in 2000 to 366 million in 2030. A recent study among Emirati citizens reported age-standardized rates for diabetes mellitus (diagnosed and undiagnosed) and pre-diabetes in those 30–64 years old as 29.0% and 24.2%, respectively. The association between type 2 diabetes mellitus and obesity is very strong and cardiovascular disease is the leading cause of morbidity and mortality among diabetic patients. The changes in ventricular myocyte contraction, intracellular calcium and the expression of genes encoding cardiac muscle proteins that take place in young (9–13 weeks) and ageing (30–34 weeks) Zucker diabetic fatty (ZDF) rat heart have been reviewed. Diabetes mellitus was associated with a fourfold elevation in non-fasting blood glucose in young and ageing ZDF rat compared with age-matched Zucker lean controls. Amplitude of shortening was unaltered in myocytes from young and ageing ZDF rats. Time to peak and time to half relaxation of shortening was prolonged in myocytes from young ZDF rats and was unaltered in myocytes from ageing ZDF rats compared with controls. Amplitude of the Ca2+ transient was unaltered in myocytes from young and ageing ZDF rats. Time to peak Ca2+ transient was prolonged in myocytes from young and ageing ZDF rats. L-type Ca2+ current was significantly reduced in myocytes from young and ageing ZDF rats. Sarcoplasmic reticulum Ca2+ transport did not appear to be altered in myocytes from young or ageing ZDF rats. Expression of genes encoding L-type Ca2+ channel proteins, plasma membrane transporters, sarcoplasmic reticulum Ca2+ and regulatory proteins and cardiac muscle proteins were variously up-regulated, down-regulated or unaltered in ventricles from young and ageing ZDF rats. Up-regulated genes in young ZDF rat heart included CACNA1C, CACNA1G, CACNA1H, ATP1A1 and MYH7, whereas down-regulated genes in young ZDF rat heart included ATP1B1, SLC9A1, ATP2A2, CALM1, MYH6, MYL2, ACTC1, TNNI3, TNNT2 and TNNC1. Up-regulated genes in ageing ZDF rat heart included CACNA1G, CACNA1H, ATP2A1 and MYL2, whereas down-regulated genes in ageing ZDF rat heart included CACNA2D3, SLC9A1, ATP2A2, MYH6 and TNNT2. Subtle changes in expression of genes encoding various cardiac muscle proteins may underlie functional changes in hearts of young and ageing ZDF rats compared with age-matched controls.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 245 30
The impact of child-rearing by maids on mother–child attachment
Abdulrahman Al-Matary, Jaffar Ali
May-August 2013, 6(2):197-204
DOI:10.7707/hmj.v6i2.119  
IntroductionThe objective of this study was to assess the perceived negative impact on mother–child attachment of raising children with the help of foreign maids, as practised in Arab Gulf countries. Materials and methods A descriptive cross-sectional study was conducted. A convenience sample was recruited from June 2010 to December 2010 from three tertiary hospitals and shopping centres. Five hundred questionnaires were distributed. Of these, 336 with complete data sets were analysed. The study was approved by the Institutional Review Board of the King Fahad Medical City. The analysed data were tabulated in the form of descriptive statistics. Results. Eighty per cent of households had a maid, but only 50% of mothers had careers. The proportion of babies who were not bottle-fed was 31.6%, with 15.7% exclusively breast-fed. Of the 52.8% of babies who were both breast- and bottle-fed, most were usually bottle-fed. The proportions of participants who reported high and low levels of mother–child attachment were 61.9% and 15.6% respectively. Although 22.6% declined to comment on this, questioning revealed a low level of mother–child attachment in this group, and therefore low mother–child attachment totalled 38.2% (15.6% + 22.6%). In 45.2% of cases, mothers stated that bonding was not affected by the maid, whereas 30% stated that bonding was affected. Although 24.2% declined to express their view, further questioning confirmed their discomfort in answering this question; this suggested that they did perceive a lack of bonding, and therefore that this affected a total of 54.2% (24.2% + 30%) of households. Discussion Although only half of the mothers had careers, a larger proportion of households had maids, indicating an overdependence of mothers on domestic aides. The very low proportion of babies who were exclusively breast-fed would suggest that mother–child bonding was affected in a large proportion of households that bottle-fed. However, about two-thirds of the mothers claimed high levels of mother–child bonding, whereas only one-sixth felt that bonding was adversely affected. The remainder were reluctant to discuss this point, suggesting that the problem of low levels of mother–child bonding exists. The study found that almost half of mother–child bonding relationships could be impaired by the presence of maids. Conclusion. This study indicates that mother–child attachment is adversely affected by the presence of maids, which could prove detrimental to the psychosocial development of affected children and the population of the Gulf Cooperation Council countries in the long term. Family-friendly work policies for mothers and education on responsible parenting are recommended.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 275 56
Sensitization of murine macrophages and human hepatoma cells to lipopolysaccharide-induced oxidative and nitrosative stress by aspirin
Haider Raza, Annie John, Jasmin Shafarin
May-August 2014, 7(2):219-228
DOI:10.7707/hmj.v7i2.316  
Bacterial endotoxin lipopolysaccharide (LPS) induces the production of inflammatory cytokines and reactive oxygen species (ROS) under in vivo and in vitro conditions. Acetylsalicylic acid (ASA, aspirin) is one of the most commonly used anti-inflammatory drugs. Our aim was to study the mechanism of aspirin action in the presence of LPS in murine macrophages and human hepatoma cells. We investigated the effects of LPS with a subtoxic concentration of ASA, alone and in conjunction, on oxidative and nitrosative stress using the mouse macrophage cell line J774.2 and human hepatoma HepG2 cells. Apoptosis was measured by flow cytometric analysis. LPS alone markedly induced nitric oxide (NO) production in macrophage cells and moderately in HepG2 cells. When ASA was added to LPS-treated macrophage cells, the increase in NO production was significantly higher than that induced by LPS or ASA alone. However, treatment of HepG2 cells with LPS or ASA alone or in combination exhibited moderate effects on NO production. Similarly, production of ROS after treatment with LPS and ASA was also higher in macrophages than in HepG2 cells. The combination of LPS and ASA also markedly increased the rate of lipid peroxidation in both cell lines. The activity of aconitase, an oxidative stress-sensitive mitochondrial matrix enzyme, was also markedly inhibited in J774.2 cells compared with HepG2 cells. Furthermore, treatment of cells with LPS alone or in combination with ASA also resulted in higher apoptotic cell death in macrophages. These results suggest that macrophages are more sensitive to LPS and that LPS and ASA treatments synergistically increase oxidative and nitrosative stress in these cells.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 248 53
REVIEW ARTICLE
Camptothecin and taxol – from nature to bench to bedside
Mansukh C Wani
January-March 2015, 8(1):69-81
DOI:10.7707/hmj.355  
Camptothecin (CPT) and taxol are secondary metabolites found, respectively, in the wood bark of Camptotheca acuminata, a native of China, and Taxus brevifolia, found in the Pacific north-west coastal region of the USA. The compounds were isolated by the bioassay-guided fractionation of the crude plant material and their structures established by single crystal X-ray analysis. Both compounds have unique mechanisms of antitumour activity. Camptothecin inhibits an enzyme, topoisomerase I, involved in DNA replication. Taxol binds to a protein, tubulin, thus inhibiting cell division. Currently, two analogues of camptothecin, topotecan (Hycamtin®, GlaxoSmithKline, Brentford, UK) and irinotecan (Campto®, Pfizer Ltd, New York, NY, USA), and taxol and its analogues, docetaxel (Taxotere®, Sanofi-Aventis Ltd, Guilford, UK) and cabazitaxel (Jevtana®, Sanofi-Aventis Ltd, Guilford, UK), are approved for clinical use in the USA by the Food and Drug Administration (FDA). The camptothecin analogues are used to treat ovarian, colorectal and small-cell lung cancers. Taxol is used extensively to treat refractory ovarian, breast and non-small-cell lung cancers and Kaposi's sarcoma. Docetaxel has been a very important drug for the treatment of breast cancer and cabazitaxel is FDA approved for the treatment of hormone-refractory prostate cancer.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 224 41
STATE-OF-THE-ART REVIEW
Appetite regulation and physical activity – an energy balance perspective
Catherine Gibbons, John Blundell
January-March 2015, 8(1):33-52
DOI:10.7707/hmj.431  
In addressing the topic of appetite regulation, energy balance and physical activity, there are many reasons why it is appropriate to consider these issues conjointly in relation to the phenomenon of obesity. Firstly, it is widely recognized that obesity arises from a mismatch between energy taken in and energy expended, although this is not a simple matter of calculating the algebraic sum of two numbers. Secondly, recent evidence has revealed that appetite control (responsible for energy intake) is closely related to the energy requirements of the body, in contrast to the conventional approach of appetite emerging from the regulation of body fat (lipostatic hypothesis). Thirdly, physical activity is obviously implicated in energy balance and therefore connected to both energy intake (appetite control) and the control of body tissue stores (obesity). Finally, for the management of obesity, increasing physical activity (moving more) and decreasing dietary intake (eating less) are two of the major principles in the medical and public health arenas. This review will deal with research and theory relating to human obesity, with the objective of providing a synthesis relevant to understanding the predicament that this phenomenon is causing. One major reason for addressing the problem in this way is because, in recent years, it has become apparent that the observed increase in obesity, worldwide, is associated with an overconsumption of food (a problem related to appetite control) and a sedentary lifestyle (a problem related to physical activity), and the relationship between the two (an issue related to energy balance). Accordingly, investigations in this area should provide insights into how to deal with overconsumption and with sedentariness for the management of obesity. This review is about energy intake and energy expenditure and how they influence the human capacity to live healthily in a modern world.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  2 275 69
CASE REPORTS
Sacrococcygeal teratoma
Mohammed Hassan Abdelrhaman, Salah Ahmed Ibrahim, Moawia Elsadig
September-December 2013, 6(3):395-396
DOI:10.7707/hmj.v6i3.254  
Sacrococcygeal teratoma is one of the most common tumours affecting newborns and infants. Currently, a diagnosis is most likely to be made in the prenatal period during routine ultrasonography examination. Delay in diagnosis and treatment may lead to the development of complications, fetal loss and increased perinatal mortality. This case report investigates rupture of the tumour at birth, one of the complications of sacrococcygeal teratoma. The baby in this case survived and showed a good postoperative recovery.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 178 31
EDITORIAL
The management of common chronic respiratory disorders
P John Rees
January-April 2014, 7(1):1-1
DOI:10.7707/hmj.v7i1.317  
Full text not available  [PDF] [CITATIONS]
  1 103 40
ORIGINAL RESEARCH ARTICLES
Breast cancer profile in Ras Al Khaimah, United Arab Emirates – a histopathological and immunohistochemical study
Manal M Sami, Ibrahim Y Hachim, Ahmed H Elbarkouky, Mahmood Y Hachim, Azan Al Saadi
January-April 2014, 7(1):70-92
DOI:10.7707/hmj.v7i1.288  
Breast cancer was the most frequently diagnosed cancer among United Arab Emirate (UAE) nationals in 2002, accounting for 23% of all cancers in women. However, few studies have examined the immunohistochemical profile and subtyping of breast cancer in UAE and their correlation with the established prognostic factors. The aim of this study is to evaluate the immunohistochemical expression of oestrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2)/neu, B-cell lymphoma 2 (Bcl-2), E-cadherin and p53 in primary breast carcinomas in Ras Al Khaimah (RAK) and analyse their expression in comparison with the established prognostic factors of breast cancer. We also attempt to classify breast cancer in the present cohort using immunohistochemical marker panels consisting of ER, PR and HER2, and to study the correlation with the other clinicopathological characteristics. The study included 28 patients with primary breast carcinomas diagnosed at the Department of Surgery, Saqr Hospital, RAK, during the period 2001–10. Immunohistochemical staining for ER, PR, HER2/neu, Bcl-2, E-cadherin and p53 was carried out and the tumours were categorized into four subtypes: luminal A, luminal B, HER2 enriched and triple-negative breast cancer (TNBC). Expression of ER, PR, HER 2, Bcl-2, E-cadherin and p53 was observed in 12 (42.85%), 7 (25%), 6 (21.4%), 14 (50%), 12 (42.8%) and 5 (17.8%) tumours, respectively. Lobular carcinoma showed significantly higher expression of ER (80%, P = 0.05) and loss of E-cadherin expression in all cases (100%, P = 0.006); HER2 and p53 overexpression was more frequently found in invasive ductal carcinoma (66.6% and 80%, respectively), and poorly differentiated tumours exhibited loss of ER and PR (84.6%, P = 0.02, and 92.3%, P = 0.01, respectively), loss of E-cadherin expression and showed predominant expression of p53 (P = 0.029). There was a strong positive correlation between ER and PR expression and Bcl-2 expression (P = 0.002 and P = 0.03, respectively). A total of 40% of p53-expressing tumours showed HER2 overexpression compared with 82.61% displaying loss of both markers (P = 0.0001). The majority of p53-positive tumours were ER, PR and Bcl-2 negative (80%, 100% and 80%, respectively). The luminal A, luminal B, HER2-enriched and TNBC subtypes accounted for 39.29%, 10.71%, 10.71% and 39.29%, respectively. The immunohistochemical subtypes were significantly associated with histological grade (P = 0.03), in situ component (P = 0.04), American Joint Committee on Cancer (AJCC) stage (P = 0.02) and Bcl-2 expression (P = 0.001). Steroid hormone receptors and p53 expression were relatively lower than other series, whereas the expression of HER2, Bcl-2 and E-cadherin were consistent with the range reported in the literature. The molecular subtypes showed significant associations with tumour grade and stage, two of the well-established prognostic factors.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 241 60
REVIEW ARTICLE
Human gene therapy – the future of health care
Milad Soleimani, Maxime Merheb, Rachel Matar
January-March 2015, 8(1):101-110
DOI:10.7707/hmj.304  
Gene therapy is the use of genes to heal diseases at the genetic level. It involves insertion, correction or inactivation of specific genes in organisms suffering from genetic disorders. Ever since it was introduced as a hypothesis in the 1960s, gene therapy has gone on to become a medical wonder that promises relief from the likes of Parkinson's disease and multiple sclerosis. Today, the technique is used to manipulate the genome of not only somatic cells but also the germline cells of early embryos and gametes with a vast range of viral and non-viral vectors. The diseases targeted by gene therapy are among the deadliest on the planet: they are categorized into cancers, genetic deficiencies and autoimmune diseases. On the one hand, gene therapy is deemed by some to be an ethically and technically problematic technology because of its cost, its treatment of human dignity and its questionable accuracy and safety. In contrast to what its opponents say, the pro-gene therapy arguments support the technique by highlighting its remarkable efficiency, long-term cost-effectiveness and ability to cure unique diseases, among others.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 233 47
Leprosy in pregnancy – a review of the literature
Christiana Oluwashola Fatola, Anthony Kodzo-Grey Venyo, Lucy Kodzo-Grey Venyo, Douglas John Lindsay Maloney
January-March 2015, 8(1):83-95
DOI:10.7707/hmj.320  
Leprosy, or Hansen's disease, is one of the world's oldest infectious diseases. It affects the skin and nerves and, if left untreated, leads to deformity. Every 2 minutes someone is diagnosed with leprosy, but, because of the lack of education and the stigma surrounding the disease, some people are diagnosed too late and develop life-changing disabilities. Through a simple course of medication, leprosy is an entirely curable disease. Literature, such as reported cases and review papers, on leprosy in pregnancy was obtained using various internet search engines. Leprosy in pregnancy is a rarely reported event, but nine countries in Africa, Asia and Latin America have considered it a public health problem. An effective cure for leprosy is available in the form of multidrug therapy, taken for some months, but if treatment is delayed until a later stage, there is a high risk of disability. Pregnancy is hazardous for women with leprosy. It is most dangerous during the third trimester when infection can lead to adverse obstetric and fetal outcomes, such as low birthweight, prematurity, exfoliative dermatitis in the newborn and erythema nodosum in the pregnant mother. Documentation on leprosy in pregnancy indicates that pregnancy is not only a trigger for leprosy but also an ideal in vivo model for research. Leprosy in pregnancy can be treated safely and effectively by combined drug therapy. However, early detection, well-planned health education for leprosy patients and the highest standard of clinical supervision during pregnancy are key strategies in reducing problems associated with the disease and are also the best way to prevent disability.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 364 62
Lymphoepithelioma-like carcinoma of the urinary bladder – review of the literature
Anthony Kodzo-Grey Venyo, Kweku Baiden-Amissah
September-December 2013, 6(3):327-346
DOI:10.7707/hmj.v6i3.245  
Lymphoepithelioma tumours are commonly found in the nasopharynx, and histologically similar lymphoepitheliomas have been found elsewhere in the body, including the urinary bladder. Because of the rarity of lymphoepithelioma-like carcinoma (LELC) of the urinary bladder, most practitioners will be unfamiliar with its presentation, management and outcome. LELC of the urinary tract is just one of the variants of urothelial carcinoma that were added to the World Health Organization (WHO) classification in 2004, characterized by their morphological features and immunohistochemical staining characteristics, and including also the nested, microcystic, micropapillary, plasmacytoid variants. The aim of this article is to briefly outline the features of LELC based on the results of various internet searches. LELC of the urinary bladder is a rare tumour, accounting for 0.4–1.3% of all carcinomas of the urinary bladder, and occurs mainly in adults, with a reported mean age at diagnosis of 67–69 years (range 52–84 years). The majority of patients with LELC of the urinary bladder are men (75%), and fewer than 100 cases have been reported in the literature. Patients with LELC of the urinary bladder mostly present with haematuria and a definitive diagnosis is based on accurate histological interpretation. The morphological features of the tumours and the characteristic immunohistochemical staining are key to the diagnosis. Microscopically, they resemble lymphoepithelioma of nasopharynx and are Epstein–Barr virus negative. The lymphoepithelioma-like component should be > 50% and microscopic examination depicts undifferentiated tumour cells in syncytial sheets with minimal cytoplasm, prominent nucleoli, numerous mitoses and lymphocytes. LELC of the urinary bladder tends to exhibit positive staining for cytokeratin (CK) 7, AE1/AE3, epithelial membrane antigen, and often p53 and B- and T-cell markers. In addition, they exhibit negative staining for CD45/leucocyte common antigen. The differential diagnosis of LELC of urinary bladder includes florid cystitis, large cell undifferentiated carcinoma, lymphoma and small cell carcinoma. These tumours are usually muscle-invasive and often coexist with transitional cell carcinoma and carcinoma in situ. Chronic inflammation may obscure the tumour and cystectomy is usually employed as a treatment method in view of the fact that the tumour may be multifocal with synchronous urothelial carcinoma. There is no consensus on the optimum treatment in view of the rarity of the disease. Nevertheless, there is evidence to suggest that patients with pure or predominant LELC of the urinary bladder should undergo transurethral resection with or without adjuvant cisplatin-based systemic chemotherapy and focal LELC should be treated by radical cystectomy with adjuvant cisplatin-based systemic chemotherapy. After bladder-preserving treatment, the patient should undergo regular follow-up cystoscopies.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 198 32
Literature review of small cell carcinoma of the urinary bladder
Anthony Kodzo-Grey Venyo, Douglas John Lindsay Maloney
May-August 2013, 6(2):149-162
DOI:10.7707/hmj.v6i2.225  
Small cell carcinoma of the urinary bladder is a rare tumour that resembles small cell carcinoma in the lung and elsewhere. Because of its rarity, practitioners may not be familiar with the biological behaviour of this tumour. The aim of this article is to review the literature on small cell carcinoma of the urinary bladder. Various internet search engines were used to explore the literature on small cell carcinoma of the urinary bladder including Google, Google Scholar, UpToDate, Pub Med and Educus. About 42 references were selected as the basis for the literature review. Small cell carcinoma of the urinary bladder is an aggressive tumour that typically presents with advanced or disseminated disease. This is a rare disease, accounting for only 0.5–1.0% of all bladder malignancies. Affected individuals show no age, sex or clinical differences from those with the typical type of urothelial carcinoma. Some cases of small cell carcinoma of the urinary bladder arise from urothelial carcinoma in situ while others arise from totipotent stem cells in the submucosa. The tumours are usually large polypoid masses that can occur anywhere in the bladder. Microscopically, the tumours appear as loosely cohesive sheets, or nests, of small to intermediate-sized cells with minimal cytoplasm, hyperchromatic nuclei, stippled or coarsely granular chromatin, indistinct nucleoli and no nuclear overlapping. Mitotic activity and necrosis are common and the tumours may co-exist with other forms of in situ, or invasive, carcinoma. Radical cystectomy is the main treatment for small cell carcinoma of the urinary bladder, unless metastatic disease is present, followed by systemic treatment. Response to chemotherapy is good, similar to treatment for small cell carcinoma of the lung, but the overall prognosis remains poor. There is no consensus regarding treatment of small cell carcinoma of the urinary bladder although general recommendations for the approach to treatment of this aggressive disease have been suggested.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 179 21
Epidemiology of diabetes mellitus – a global and regional perspective
F Chris Howarth, Ernest Adeghate
January-April 2013, 6(1):51-58
DOI:10.7707/hmj.v6i1.149  
Diabetes mellitus (DM) is a global health problem with high morbidity and mortality. The prevalence of DM is on the increase in many parts of the world, especially in the Gulf region. Many studies from this region have reported different prevalence rates for the six Gulf Cooperation Council countries. Prevalence is estimated at between 9% and 25% in Bahrain, 16.1% in Oman, 21.4% in Kuwait, 16.7% in Qatar, 23.7% in Saudi Arabia and 23.3% in the United Arab Emirates. These reports show that the prevalence of DM is high in Gulf Cooperation Council countries compared with other regions of the world, except for the Pacific islands. A concerted effort is needed to combat the increasing prevalence of DM.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
  1 248 32
An update on the pathogenesis of type 2 diabetes mellitus
Sabine Kahl, Michael Roden
May-August 2012, 5(2):99-122
DOI:10.7707/hmj.v5i2.167  
The most common form of diabetes mellitus, type 2 diabetes mellitus (T2DM), is characterized by impaired insulin sensitivity of skeletal muscle, liver and adipose tissue, termed insulin resistance (IR), and by inadequate insulin secretion by pancreatic β cells, termed β-cell dysfunction. Recent studies propose that the brain may also contribute to IR and to the pathogenesis of T2DM. There is growing evidence that IR is the earliest detectable abnormality, whereas β-cell exhaustion is mandatory for manifesting overt T2DM. The current concepts of possible mechanisms underlying IR are lipid overflow (lipotoxicity), abnormal energy balance and mitochondrial function, subclinical inflammation, and central neuronal mechanisms. Here we review the relative roles of these mechanisms for the development of T2DM.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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REVIEW FOR THE SHEIKH HAMDAN BIN RASHID AL MAKTOUM AWARD FOR MEDICAL SCIENCES
Caffeine therapy for apnoea of prematurity in very low-birthweight infants
Barbara Schmidt, Arne Ohlsson, Peter G Davis
September-December 2012, 5(3):345-349
DOI:10.7707/hmj.v5i3.190  
Caffeine and other methylxanthines have been used to treat apnoea of prematurity for over 30 years. However, until recently, experimental evidence of the potential harm and lack of rigorous evaluation of this drug therapy in controlled clinical trials resulted in substantial uncertainty about the safety of the routine use of methylxanthines in preterm infants. The international Caffeine for Apnoea of Prematurity (CAP) trial group was formed in 1998. This collaborative research team enrolled over 2000 very low-birthweight infants in North America, Australia and Europe, and followed the children to the end of their second year of life. The CAP trial investigators showed for the first time that neonatal caffeine therapy reduces the rates of important short- and long-term morbidities such as bronchopulmonary dysplasia, severe retinopathy of prematurity, cerebral palsy and cognitive delay. Of all the neonatal treatments that have been subjected to economic evaluations, caffeine therapy is the most certain to be both cost saving and beneficial. It is therefore imperative that responsible drug manufacturers make safe and affordable formulations of caffeine available worldwide.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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Biochemical profiling of inborn errors of purine and pyrimidine metabolism by high-performance liquid chromatography – a strategy to improve childhood mortality and morbidity in Malaysian children
Bee Chin Chen, Meow Keong Thong, Zabedah M Yunus
September-December 2012, 5(3):363-371
DOI:10.7707/hmj.v5i3.174  
Background. The epidemiology of inborn errors of purine and pyrimidine (PnP) metabolism in developing countries is unknown. Facilities for the analysis of PnP metabolites in Malaysia are currently lacking owing to limited resources and expertise in this field. To achieve the correct diagnosis for these disorders is a time-consuming and costly process. The tests are not readily available for our seriously ill patients. Objective. The primary aim of this study was to establish a simple and cost-effective method using rapid-resolution high-performance liquid chromatography (RR-HPLC) for the diagnosis of inborn errors of PnP metabolism among Malaysian children who are suspected to have disorders of PnP metabolism. The secondary aim was to study the epidemiology and biochemical phenotype in our patients. Methods. The analytical method was developed using a reversed-phase high-performance liquid chromatography (RP-HPLC) with C18 column coupled to a diode array detector for simultaneous determination of the PnP metabolites. A total of 1499 patients were studied. 556 healthy children and adults were recruited as normal controls to establish age-related reference ranges and urinary uric acid – creatinine ratios. Results. The method established was able to separate up to 18 PnP metabolites in a single analytical run time of 28 minutes. Good precision (coefficient variation of <2%) and a linearity range up to 2000 μmol/l (r2>0.9993) was also observed. Recoveries were 99.8–108.4% for the tested metabolites. The detection limit of 2.18–12.5 μmol/l was adequate to detect patients with slightly increased concentration of these metabolites. Age-related reference ranges among our population were established and were used for diagnostic interpretation related to this group of disorders. Twelve patients (0.8%) were diagnosed, including four with combined molybdenum cofactor deficiency, three with isolated sulphite oxidase deficiency, two with thymidine phosphorylase deficiency, one with adenylosuccinate lyase deficiency and two with dihydropyrimidine dehydrogenase deficiency. Four cases of urea cycle defects were also detected. Conclusions. The method that we developed was proven to be efficient, reliable and sensitive enough to be applied in our clinical laboratory for the diagnosis of inborn errors of PnP metabolism disorders among Malaysian children. Early recognition and correct diagnosis allowed prompt treatment, better outcome and genetic counselling.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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Antiproliferative and pro-apoptotic actions of oestrogen receptor β in prostate cancer
Jan-Ake Gustafsson, Anders Ström
September-December 2014, 7(3):403-409
DOI:10.7707/hmj.354  
Oestrogen receptor (ER) β, the second ER, appears to be a tumour suppressor in most tissues that have been investigated. Recently, studies of prostate cancer have shown that tumour-suppressive effects of ERβ occur through varying mechanisms including increased apoptosis, reduced invasiveness and epithelial mesenchymal transition as well as inhibited proliferation. It has been suggested that ERβ is a potential drug target for the treatment of prostate cancer.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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STATE-OF-THE-ART REVIEW
Rehabilitation in stroke patients – focusing on the future
Michaela M Pinter
October-December 2015, 8(4):321-330
DOI:10.7707/hmj.481  
Stroke is a common disease worldwide, with an estimated incidence of 150 per 100 000 in developed countries. Moreover, stroke is a leading cause of disability and rehabilitation is a major part of patient care. Most research into stroke rehabilitation has focused on the effect of interventions on recovery in different forms of impairment and disability. The substantial increase in the number of clinical trials investigating rehabilitation in the past 20 years shows the rising interest of rehabilitation clinicians in evidence-based care. The most promising options for motor recovery of the arm include constraint-induced movement therapy (CIMT) and robotic-assisted strategies. Beneficial interventions to improve postural stability and gait include fitness training, high-intensity therapy and repetitive task training. However, information about the clinical effect of various strategies of cognitive rehabilitation and strategies for aphasia and dysarthria is scarce. Nevertheless, we believe that neuroplasticity enhanced due to neuromodulation of different neuronal systems will play a major role in the field of neurorehabilitation in the future.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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Irritable bowel syndrome
Adam D Farmer, James K Ruffle
July-September 2015, 8(3):265-278
DOI:10.7707/hmj.459  
Irritable bowel syndrome (IBS) is a prevalent disorder affecting around 12% of the population and is present worldwide. It constitutes approximately 40% of consultations in secondary care gastroenterology clinics. Given the prevalence of the disease, it exerts a significant societal burden, through increased health care costs, and personal burden, through a reduced quality of life. The aetiology of IBS is multifactorial and incompletely understood. In a similar manner the management of IBS is also multifactorial and encompasses the establishment of a therapeutic relationship, exclusion of other organic causes and the delineation of predominant bowel habit. Specific pharmacotherapy is directed towards symptomatic management. This review provides a focused summary of the epidemiology, clinical features, differential diagnosis and management of IBS.
[ABSTRACT]   Full text not available  [PDF] [CITATIONS]
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* Source: CrossRef