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3p25 Aneusomy in Follicular Thyroid Neoplasms: A Report of Three Cases with Review of Literature

Chia WK ; Zubaidah Z ; Reena Rahayu MZ ; Rohaizak M, Asmiati A, Rafie MK, Sharifah NA

Medicine and Health.2012;7(1):47-56.

Aneusomy is an early genetic event and a characteristic feature of many solid tumors. It is often associated with poor prognosis in cancer patients. The involvement of PAX8-PPARγ rearrangement in tumorigenesis of follicular thyroid lesions has been widely assessed. However, there were few reports on aneusomy of the PPARγ gene at the 3p25 locus in follicular thyroid lesions. It remains undetermined whether these abnormalities can be translated into improved diagnosis, classification, or outcome prediction. Herein, we report three cases of follicular thyroid neoplasms [two follicular thyroid carcinomas (FTCs) and one Hurthle cell adenoma (HCA)] with 3p25 aneusomy detected by fluorescence in situ hybridization (FISH). 3p25 trisomy was observed in one FTC and one HCA while 3p25 tetrasomy was observed in one FTC. Furthermore, all three lesions did not show overexpression of PPARγ protein. Hurthle cell neoplasms (HCN) are distinct clinically and histologically from other follicular thyroid neoplasms (FTN). However, the presence of the aneusomy in HCA and FTC indicates that there could be a biological continuum between the two and chromosomal gains might play an important role in the pathogenesis of these two types of neoplasms. Despite their differences, HCN and FTN may share the same early genetic event in tumour development.

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Clinical Value of a Rapid Fully Automated Thyroid Autoantibody Assay in the Diagnosis and Management of Graves Disease

Hanita O, Azura NR, Faizal MMZ

Medicine and Health.2012;7(1):24-31.

The most common cause of hyperthyroidism is Graves disease (GD) which is characterised by the presence of autoantibodies which binds to the TSH receptor (TRAb). Recently, a rapid, fully automated electrochemiluminescent immunoassay ElecsysAnti-TSHR for detection of autoantibodies to TSH receptor was made available for routine clinical use. The objective of this study is to evaluate this assay and to determine the sensitivity, specificity and cut-off value. Interassay and total imprecision (CV) were determined at 3.78-7.02 IU/L and 13.5-21.2 IU/L respectively. A total of 124 samples which comprised of 46 GD, seven Hashimoto thyroiditis (HD), 11 non autoimmune nodular goitre (NAG), 2 thyroid cancers (Ca) and 58 normal controls were retrospectively analysed to determine the sensitivity, specificity and cut-off value. Inter-assay CV’s were 2.4% at a concentration of 3.90 IU/L (range: 3.78-7.02 IU/l) and 0.8% at 20.80 IU/L (range:13.5-21.2 IU/l). Total imprecision was 3.8% at a concentration of 3.80 IU/L (range:13.5-21.2 IU/l) and 1.0% at 20.8 IU/L (range:13.5-21.2 IU/l). The ROC analysis of patients with GD, other thyroid disorders and normal controls revealed that the highest sensitivity (94%) and specificity (98%) were seen at cut-off value of 1.69 IU/L. Positive predictive value (PPV) and negative predictive value (NPV) was 95% and 94% respectively. At this derived cut-off value of 1.69 IU/L, we found that the sensitivity of TRAb positivity within the group of 29 newly diagnosed GD patients was 94%. Our results demonstrate that this fully automated assay with testing time of 27 minutes has high sensitivity in detecting GD and high specificity for discriminating other thyroid disease and represent major improvement in the diagnosis and management of patients with thyroid diseases.

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Dengue Fever Presenting as Bilateral Dengue Maculopathy

Umi Kalthum MN, Wong HS

Medicine and Health.2012;7(1):57-61.

Dengue fever is a common pyrexial-viral infection in the Asian region and the incidence is increasing yearly. There are various ocular manifestations of dengue fever such as maculopathy, retinal hemorrhages, retinal lesions and vasculitis. Reduction in visual acuity and other visual disturbances such as metamorphopsia is the most common presentation of dengue-associated maculopathy. We report an interesting case of a young lady with bilateral maculopathy secondary to dengue fever who was managed conservatively with dramatic visual improvements. This case highlights the possibility of bilateral and simultaneous ocular involvements in patients infected with dengue fever. Both ophthalmologists and physicians need to be aware of ocular complications following dengue fever and advice patients regarding the symptoms.

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Development of the Pelvic and Lower Limb Immobilization Device: A Universiti Kebangsaan Malaysia (UKM) Innovation Project

Ismail MS ; Johar MJ ; Bala Krishnian M ; Mohd Radhi A ; Saadah NA ; Gan KB

Medicine and Health.2012;7(1):1-11.

Uncontrolled bleeding due to pelvic fractures contributes to trauma-related morbidity and mortality. Three main strategies that have been outlined to combat this condition which include reduction of pelvic volume that lead to tamponade-like effect, arresting haemorrhage through angioembolization of the major vessels, and stabilization of the pelvic bone with external fixation need to be initiated early. A prehospital device that allow these strategies will aid significantly in the management of the patient. At present most devices used to treat pelvic fractures in the pre-hospital setting do have its’ own advantages but also have some limitations. A characteristic ‘wish-list’ of a good pelvic and lower limb immobilization device was created and the research team from UKM takes the challenge to design and produce a device that concurs to it. A two phase development project that incorporate anthropometric, biomechanical, cadaveric and radiological study was carried out over a period of seven years. Finally, BRIMTM immobilizer, a new pelvic and lower limb immobilization device that is user friendly, tough, cost effective, radiolucent, light and reusable that answers most of the requirement of a good device was invented.

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Red Cell Antibody Screening in Pregnancy: A Preliminary Insight?

Suria AA ; Nurdiyana MN ; Huik May L ; Alex YCS ; Noornabillah R ; Hud MA ; Leong CF ; Norazlin MI ; Nurasyikin Y

Medicine and Health.2012;7(1):41-46.

Red cell alloimmunisation is defined as the development of antibodies in response to foreign red cell antigens through transfusion or pregnancy. In pregnant women even without the history of previous blood transfusion, this is possible through previous or current pregnancy with the presence of paternal red cell antigen inherited by the fetus. This study was aimed to determine the prevalence of red cell alloimmunisation among pregnant women without previous history of blood transfusion and the association with number of pregnancy and history of obstetric complications. This was a cross-sectional study in which 150 pregnant women were randomly selected from the antenatal clinic. Ten mls of peripheral blood was obtained for antibody screening using indirect antiglobulin test besides the routine antenatal screening. In this study, the majority (37.3%) of the women were primigravidae. Red cell alloantibodies were detected in two out of 150 (1.3%) patients which were subsequently identified as anti-C and anti-D. However none of the primigravida was alloimmunised. One woman of gravida 2 (2.9%) and gravida 3 (3.6%) each were positive for alloimmunisation. One of them also had a bad obstetric history. This study showed that the prevalence of red cell alloimmunisation among pregnant women was low in this centre. Nevertheless, red cell alloantibody screening test should be made available to reduce possible complications of alloimmunisation in mothers and fetuses.

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Bilateral Retinal Vasculitis: A Presumed Case of Ocular TB without Inflammation

Umi Kalthum MN ; Norfarizal A ; Rona Asnida N ; Ayesha MZ ; Jemaima CH

Medicine and Health.2012;7(2):97-101.

A 17-year-old male student of Indonesian parentage presented with two weeks history of progressive painless bilateral visual deterioration. There was no contact with tuberculosis (TB)-infected patients and parents claimed that all immunization including BCG was completed. However, BCG scar was not apparent. Visual acuity was 6/36 and 6/60 in the right and left eyes respectively. The anterior and vitreous chambers were quiet. Funduscopic examination revealed retinal vasculitis with perivascular exudates, branch vein occlusion, neovascularization and macular oedema. Fluorescein angiography confirmed large areas of capillary non-perfusion and leaking new vessels. Mantoux test was positive and full regime anti-TB therapy was instituted. HIV screening was negative. Three days later, an immunosuppressive dose of oral steroid was started. Both eyes received intensive laser photocoagulation. Interestingly, there was no development of vitritis throughout.

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Biliary Ascariasis From a Rural Setting: A Case Study

Sai Sanjeev M ; Lum LC

Medicine and Health.2012;7(2):102-106.

Ascariasis is a common helminthic infestation in Malaysia, particularly in rural settings. Ascariasis lumbricoides normally lives in the upper small bowel without causing symptoms. Complications arise when these worms migrate into the bile duct (biliary ascariasis). A case of biliary ascariasis presenting as biliary colic is described. Patient presented with 2 days duration of right upper quandrant pain at the district hospital. Initial investigations were suggestive of acute cholecystitis and patient was treated with empirical antibiotics. However, due to worsening symptoms, she was transferred to the nearest tertiary setting. The diagnosis of helminthic biliary infestation was established using both ultrasound of the hepatobiliary system (HBS), CT-Scan abdomen and endoscopic retrograde cholangiopancreatography (ERCP). Endoscopic removal of the worm led to rapid resolution of symptoms and patient was discharged home well.

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Ectopic Pregnancy Following Levonorgesterol-Only Emergency Contraception: The First Malaysian Case Report

Natasha MN ; Khoo HW ; Sulaiman AS ; Nur Azurah AG, Md Dali Azh, Jamil MA

Medicine and Health.2012;7(2):107-111.

Levonorgestrel (LNG) is a well-known safe and efficacious emergency contraception (EC). However, ectopic pregnancy following the failure of LNG-only EC has been reported. The exact incidence of ectopic pregnancy has been hindered by lack of data due to the fact that LNG-only EC is accessible at pharmacies without a prescription. We describe a case of ectopic pregnancy in an 18 year-old single woman who took LNG-only EC within 48 hours of unprotected sexual intercourse.

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Parenting Stress in Childhood Leukaemia

Zarina AL ; Radhiyah R ; Hamidah A ; Syed Zulkifli SZ, Rahman J

Medicine and Health.2012;7(2):73-83.

Parenting stress is the stress level experienced within the role of a parent (HoekstraWeebers et al. 1998). The source of stressors is variable and dependent on the phase of disease and chemotherapy (Sawyer et al. 2000). Failure to cope with these stressors may in turn affect the child’s emotional and social adjustment towards the diagnosis of cancer in addition to poor medical treatment adherence behaviour(Sawyer et al. 1993). The objectives of this study are to determine the level of parenting stress, the risk factors contributing to high parenting stress, and the coping mechanisms used to handle the stress. This single centred, cross-sectional study was done amongst 117 parents at the Paediatric Haematology and Oncology Unit, Universiti Kebangsaan Malaysia Medical Centre (UKMMC) over two years duration. Self-administered questionnaires comprising the Parenting Stress Index/Short Form (PSI/SF) and Coping Inventory for Stressful Situation (CISS) were distributed to parents of children who were 12 years old and below. The mean total parenting stress score amongst parents of children diagnosed with acute leukaemia was 91.5±21.1(95%CI). A total of 27.3% of parents experienced a high total parenting stress score(defined as total PSI score ≥ 75th centile, ie ≥ 103). Task-oriented coping mechanism was used by the majority of parents. Emotion-oriented coping mechanism was the only identifiable risk factor for high parenting stress score following multiple logistic regression analysis. A parent who used emotion-oriented coping mechanism was 7.1 times (95% Confidence Interval 1.2 to 41.4) more likely to have a high parenting stress score compared to a parent who used other coping mechanisms. By identifying these at-risk parents, appropriate counselling and psychological support may be offered early to alleviate the stress as well as assist in the coping and adjustment mechanisms of these parents.

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Anterior Penetrating Chest Injury with Left Ventricular Thrombus

Ruth Sabrina S ; Nik Azlan nm ; Adi O

Medicine and Health.2013;8(1):28-32.

Urban cities are synonym with a high incidence of penetrating chest injuries either from accidents or interpersonal violence. The outcome of penetrating chest wound can vary from immediate death to a prolonged morbidity. We here report a case of 39-year-gentleman who presented to Emergency Department Hospital Raja Permaisuri Bainun, Ipoh, Perak after being stabbed to the chest. His anterior penetrating chest wound was located at the 5th intercostal space medial to the midclavicular line. The stab wound penetrated the myocardium, causing minimal myocardial rupture. He also suffered from left haemothorax and hemopericardium. The haemothorax was drained with insertion of 32 French chest tube. The patient was admitted under the cardiothoracic team and discharged five days later without surgical intervention. He presented again to the Emergency Department with complains of shortness of breath and pleuritic pain. A left ventricular thrombus was detected via echocardiography. Unfortunately, he took his own discharge. Five days later he came again to Emergency Department with sporadic of loss of vision. The mural thrombus dislodged and embolized to the retinal artery causing amaurosis fugax. The patient was treated with aspirin 150mg and his symptoms subsequently resolved.

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