Down Syndrome (DS), is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. It is the most common autosomal abnormality among live births and the most commonly recognized genetic cause of mental retardation. The only well established risk factor for DS is advanced maternal age. The Human Genome Center , University Sains Malaysia, Kelantan has been carrying out cytogenetic studies in DS patients. Here we, report the karyotype pattern of Down Syndrome patients in correlation with maternal age, among referral cases to our Center.
Microsatellites or simple sequence repeats (SSRs) are tandem repeats of DNA of 1-6 bp long. They ubiquitously occur in both eukaryotic and prokaryotic genomes. Because of their abundance,
they have widespread applications in both animal and plant sciences; such as varietal identification, genetic mapping, QTL mapping, phylogenetic and diversity studies. Thus, SSRs have become valuable DNA markers for molecular biologists and geneticists. Microsatellites are markers
of choice for many molecular geneticists because of their hypervariability, codominant
inheritance, multi-allelism and PCR-based assaying of variations that are amenable to automation and high throughput assay. However, the utilization of microsatellite markers in the past was
hampered by its laborious de novo isolations and species-specific nature.
Singapore health care has taken a major leap and invested a large amount of money and work force in chronic disease management. These changes attempt to integrate population perspectives and personcentred perspectives. Primary health care team can play a lead role in chronic illness care, but health care organisation system support and policy are critical to its success. (Copied from article).
MeSH terms: Chronic Disease; Humans; Long-Term Care; Patient Care Team; Primary Health Care; Singapore; Disease Management
Collusion is generally an act of love and protection for a close relative from knowing the bad news with regard to diagnosis and prognosis of his/her illness. Evidence from research studies showed that although truth hurts, deceit may well hurt more. Filial duties and obligations form the basis for non disclosure in some cultures while principles of informed consent and patient autonomy are ethical and legal obligations to provide patients with as much information as possible in some countries. Collusion serves to isolate the patient, cause family disruption, incurs tremendous psychosocial stress on patient and relatives and leads to poor standard of healthcare. It is vital to assess for presence of collusion from the outset and to avoid this distressing dilemma. This case report is an example of the great cost of collusion on the carer’s part.
This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.
A survey of colour vision deficiency among 1427 medical students and healthcare personnel in Seremban revealed a prevalence of 3.2% with a marked male predominance (males 6.7%, females 0.4%). In view of the potential difficulties faced by such personnel in clinical works, early detection of this deficiency allowed appropriate counselling.
MeSH terms: China/ethnology; Color Vision Defects; Counseling; Cross-Sectional Studies; Female; Health Personnel; Hospitals; Humans; India/ethnology; Malaysia; Malaysia/ethnology; Male; Surveys and Questionnaires; Students, Medical; Universities; Work; Prevalence
Recommend that the following measures be applied universally: CPR training should emphasize the very low risk of disease transmission. Training in the use of barrier mask should be included; Oral barrier devices should be made freely available in hospital and in public areas e.g. hotels, theaters, health clubs and restaurants. A survey among health personnel in Malaysia conducted in 2005 found that nearly half of the 4989 subjects were either not confident at all or unsure about their ability in giving first-aid and CPR.13 The investigators however did not look at fear of infection in particular.
MeSH terms: Fear; First Aid; Health Personnel; Malaysia; Masks; Surveys and Questionnaires; Research Personnel; Restaurants; Risk; Cardiopulmonary Resuscitation; Fitness Centers; Uncertainty
Acute suppurative thyroiditis is a rare disorder. We saw a 24 year old man with this condition that present atypically. The patient had a non-tender thyroid enlargement associated with fever and leukocytosis. FNA cytology clinched the diagnosis. The abscess was associated with Klebsiella pneumoniae septicemia and required surgical drainage after failing antibiotic therapy.
Evidence thus far still supports the contention that fish derived omega-3 fatty acids, EPA and DHA, are good for heart patients. But this controversy tells us something about the medical research, and the acquisition and application of medical knowledge. Being scientists, doctors try to perform studies as rigorously as possible with randomised, placebo-controlled trials and using tests of statistical significance. But since the studies are on humans, with all their individual differing habits and inconsistencies, different results are produced by different researchers. And so while medicine is a science, in that the trials are scientifically conducted, the interpretation of the results, and in particular its application for the individual patient, is very much an art. A good doctor, like the good artist, must spend much time, energy and effort sieving through the good from the not so good data before coming out with the correct picture. Only by keeping an unbiased, inquisitive mind can the evidence be reviewed to solve the problem at hand. Almost always, the balance of data will favour a particular stand. In this day when newspapers are full of medical articles, a family physician has to be educated, interested and inquisitive to be a source of accurate and relevant information for the patients.
MeSH terms: Animals; Fishes; Habits; Humans; Medicine; Physicians, Family; Research Personnel; Fatty Acids, Omega-3; Biomedical Research
Hepatitis B virus infection is a global public health problem. The prevalence of hepatitis B infection is higher in Asia. The rate of HBsAg carriage in the general population ranges from 2-20%. The WHO has recommended that by the end of 21st century hepatitis B vaccination should be incorporated into routine childhood immunisation programmes for all nations. Vaccination against hepatitis B remains the most important aspect of preventive care. Most importantly hepatitis B vaccination can protect individual from fulminant hepatitis, liver cirrhosis and hepatocellular carcinoma. Primary care physicians must be familiar with the pathology, epidemiological and clinical presentations of this disease and be able to refer patients for appropriate treatment at the tertiary centre.
MeSH terms: Asia; Hepatitis B; Hepatitis B Surface Antigens; Hepatitis B virus; Carcinoma, Hepatocellular; Humans; Liver Cirrhosis; Liver Neoplasms; Public Health; Vaccination; Prevalence; Review; Immunization Programs; Physicians, Primary Care
This case report illustrates the misdiagnosis of intermittent claudication in an elderly with multiple cardiac risk factors. Careful clinical evaluation and imaging shifts the diagnosis from peripheral vascular disease to spinal stenosis. The decision whether to offer conservative therapy or proceed to spinal surgery requires an accurate assessment of the severity of the symptoms without ignoring the important role of patient preferences.
Chronic wounds and scar tissues are prone to skin cancer. In 1828, Jean-Nicholas Marjolin described the occurrence of tumours in post-traumatic scar tissue. He did not, however, identify the warty ulcers he described as malignant. It was Dupuytren, who about two years later, noted that these lesions were cancerous. The eponym was bestowed by Da Costa in 1903. Marjolin’s ulcer no longer refers only to carcinomas secondary to burns and is classified as a malignancy that arises from previously traumatised, chronically inflamed, or scarred skin. It has been reported in relation to osteomyelitis, venous stasis ulcer, tropical ulcers, chronic decubitus ulcer, frostbite, pilonidal sinus, vaccination site, urinary fistula, hidradenitis suppurativa, skin graft donor site, gunshot wounds, puncture wounds, dog bites, and lupus rash. Early arising Marjolin’s ulcer has rarely been described in literature. In this case report, we present the CT appearances of Marjolin’s ulcer in the left gluteal region of a young man.
Background: Leuko-araiosis (LA) and dementia are common geriatric conditions but their pathogenesis and clinical significance are not completely understood. An evaluation of CT perfusion (CTP) in both these conditions can further enhance the understanding of these diseases. Methods: Twenty-one patients with LA and 21 age-matched controls were studied with CTP and assessed for their cognitive function. The subjects were classified into four groups: Group 1, with LA (n = 21); Group 2, without LA (n =21); Group 3, with dementia (n = 7); Group 4, without dementia (n=11). The mean cerebral blood flow (CBF), cerebral blood volume (CBV) and mean transit time (MTT) values were compared between groups 1 and 2, while mean CBF values were compared between groups 3 and 4. Results: Mean white matter CBF was considerably reduced in patients with LA in the frontal region by 42% (p =0.000), basal ganglia by 37% (p = 0.000) and occipital region by 18% (p = 0.019). The mean white matter CBV was reduced in patients with LA in the frontal region by 36% (p = 0.000) and basal ganglia by 28% (p = 0.017). The mean white matter CBF was dramatically reduced in patients with dementia in the frontal region by 44% (p = 0.000), basal ganglia by 32% (p = 0.038) and occipital regions by 24% (p = 0.001). Conclusion: The CTP showed reduced white matter CBF and CBV in patients with LA. This is consistent with chronic ischemia as the pathogenesis of LA. The CTP is also a potentially important technique in the diagnosis and management of dementia, because of its ability to reveal cerebral hypoperfusion.
Purpose of study: To examine the role of imaging in diagnosing and assessing fungal infections in paediatric patients undergoing chemotherapy in a facility, which had high fungal air contamination due to adjacent building construction work. Materials and method: Nineteen patients aged five months to 12 years with various malignancies, mainly leukaemia, along with probable fungal infection were referred for imaging over a period of 12 months. The imaging findings from their CT and chest radiographs were reviewed by two radiologist and correlated with the clinical findings. Blood culture and/or biopsy of relevant lesions were performed for all patients. Results: Fungus was positively isolated in 11 out of 19 patients, but the remaining patients clinically had fungal infection. The most common species isolated was Candida sp. (five patients), followed by Aspergillus sp. The most common site of fungal infection was the lungs (10 out of 19 patients), where consolidation or cavitating nodules were seen on CT or the plain chest radiograph. One patient developed pulmonary artery aneurysm as a complication. The other sites affected were the intra abdominal organs (liver, kidneys, and spleen) and the paranasal sinuses, shown on CT. Two patients with clinical evidence of infection and Candida sp. isolated from their blood, however, showed no abnormal findings on imaging. Conclusion: Early diagnosis of fungal infections in oncology patients undergoing chemotherapy is important, but diagnosis may be difficult through imaging because of the non-specific changes and the presence of abnormalities from the underlying disease. Even if a specific diagnosis cannot be reached, imaging is useful to monitor response to treatment and detect complications.
If bleeding rate is less than 0.5 ml per minute, technetium-labelled red blood cell scans may be useful in demonstrating the lesion, which can detect rates as low as 0.1 ml per minute. The source of the active bleeding can be identified in up to 85% of cases. However, in cases of inactive bleeding, the study is accurate in only 40-60% of patients. The procedure is however time consuming and not widely available. Magnetic resonance angiography (MRA) had been reported to be able to diagnose an active lower GI bleeding. Contrast enhanced MRA is a non-invasive, three-dimensional imaging technique that delivers high spatial resolution and high contrast between exogenous contrast and native tissue. MRI can identify an extravasated blood pool with 100% sensitivity and specificity, compared with 78% specificity for nuclear scintigraphy. The excellent results for MRI could be achieved only in an idealized and controlled environment; therefore this investigation is not applicable in our situation. However, the procedure is time consuming and requires patient’s cooperation.
MeSH terms: Environment, Controlled; Erythrocytes; Gastrointestinal Hemorrhage; Humans; Magnetic Resonance Imaging; Sensitivity and Specificity; Technetium; Magnetic Resonance Angiography; Imaging, Three-Dimensional
The aim of this study was to determine mean values for selected linear measurements on the face of children and adolescents to demonstrate gender differences in the measurements. Cross-sectional data from 262 school children (158 male, 104 female) aged between 6 and 15 years were taken by measuring certain identified facial landmarks using a sliding caliper. The landmarks were first located by careful inspection and/or palpation of the face and a mark created on the cutaneous surface, with the subject sitting in habitual occlusion in an upright position. A sliding caliper was used to measure the distances between the points. The data was analysed using SPSS version 10.0 to determine mean values, standard deviation and gender differences in the measurements. Upper facial heights, total facial height, inter-canthal distance and eye length measurements were significantly higher in male than in female for 15-year-old group (p
Malaysia is endemic for both these diseases and one should not be too surprised when faced with a diagnosis of co- infection of typhoid and malaria, as have been described in India and Canada. Here we describe one such case of Salmonella typhi and Plasmodium vivax infection.
Choana atresia is a congenital abnormality of the posterior nasal apertures affecting the newborn. The aetiology is considered to be a persistence of the embroyological bucconasal membrane which separates the nasal cavity from the stomatodeum until it breaks down at seventh week, allowing communication through the primitive posterior nares. Bilateral choanal atresia almost always present as a respiratory emergency because newborn babies are obligate nasal breathers. The definitive surgical treatment is repair under general anaesthesia. We report our experience in doing a new technique of transnasal endoscopic repair.
Differentiated thyroid cancer ( DTC ) is usually not very common (incidence is about 1% of all cancers and women are more often affected than men). However, higher incidences has been reported in many parts of South East Asia particularly in iodine deficient areas. Unlike other solid tumors, DTC is potentially curable with documented survival rate of >90%. Even if the disease is not totally cured, through repeated high dose radio iodine therapy the progress of the disease can be controlled with significant improvement in quality of life for many years. This is possible if a proper and state of the art therapeutic approach is made. Since the incidence is relatively low, individual experience of treating physicians or centers is mostly inadequate leading to improper management with subsequent increase in morbidity and mortality. The purpose of this review is to evolve a rational management protocol for the treatment of thyroid cancer. Centers which do not have all facilities like high dose radio iodine therapy etc. may still follow the protocol by referring the patient for a particular step to another centre. What is needed is the awareness of the treating physician about the appropriate management of DTC. In recent years, there have been some important developments in the management of differentiated thyroid cancer like use of recombinant human thyrotropin (rhTSH), use of retinoic acid for redifferentiation etc. Some of these developments having practical relevance have been briefly mentioned.
The emergence of severe acute respiratory syndrome (SARS) had caused fear and anxiety of unprecedented proportion. To examine the impact of SARS on the medical students in a private medical university, a self-reporting questionnaire study was carried out to assess the factual knowledge, anxiety level and perception of the crisis, among the students. The two-week study (between 12 and 23 May, 2003) was carried out three weeks after the first reported SARS-related death in Malaysia. Ninety-one Phase I (junior) and 113 Phase II (senior) students completed the questionnaires. A large majority of students of Phase I and II were correct in their factual knowledge and were sensible in their perception of the future and the handling of the crisis by government(s). However, phase 1 students expressed significantly greater degree of anxiety compared to Phase II in relation to attendance and personal protection in hospital, and in meeting people coughing in public places. The lesser degree of anxiety expressed by phase II senior students may be due in part, to a more realistic assessment of SARS risk brought about by maturity, time spent in hospital and interaction with clinical lecturers and medical staff.
MeSH terms: Anxiety; Fear; Government; Malaysia; Medical Staff; Surveys and Questionnaires; Students, Medical; Universities; Severe Acute Respiratory Syndrome; Self Report