Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
Frontotemporal dementia (FTD) is now increasingly being recognized as one of the causes of young onset dementia (YOD). The presentation of FTD can be subtle with a broad range of symptoms. This frequently causes misdiagnosis and a delay in initiating the correct treatment. While subtle personality changes, disinhibition and problems in executive functioning are frequently encountered in FTD, frank psychotic symptoms resembling schizophrenia are unusual. This is a case of a 38 year old Chinese female that highlights how obsessive compulsive symptoms which progressed to florid psychosis and disorganized speech and behavior can be a presenting picture in FTD. For seven years, this patient was treated as a case of schizophrenia and was thought to have poor response to electroconvulsive therapy (ECT) as well as antipsychotic medication. Her blood work and electroencephalogram (EEG) were normal. Magnetic resonance imaging (MRI) showed progressive cerebral atrophy. This case report suggests that psychosis should be investigated in detail especially when the clinical presentation is not typical of a functional disorder and more so when the patient is not responsive to conventional treatment. This report also highlights the importance of eliciting symptoms suggestive of an "organic" etiology, such as incontinence and disorientation. In addition, the usefulness of repeated imaging to show the rapidly progressive course of FTD has been illustrated. Other possible differential diagnoses of this patient are also discussed.
Coeliac artery thrombosis with ischaemia is a rare condition, which usually presents with severe peptic ulcer disease symptoms. It is usually associated with risk factors for thrombosis or embolism. The manifestation is rare because of large number of collaterals between the coeliac and superior mesentery artery. Early detection and intervention is required to prevent the progression of its complications that includes gastric ischaemic necrosis.
A 33-year-old Malay lady presented to us with 1-month history of globus sensation in the throat. Clinically, she had a 3cmx2cmx1cm sessile soft mass arising from the right tongue base and was treated as hypertrophied lingual tonsil. Biopsy of the mass was done when the patient developed bleeding and was reported as diffuse non-Hodgkin's B-cell lymphoma. Globus sensation is a common complaint in the ORL clinic. It is important to be able to decide if further investigation is warranted to differentiate a malignant from a benign lesion as at times, a malignant lesion can masquerade as a harmless lesion.
BACKGROUND: International students make up an increasing proportion of university students in Australia. Research suggests that they have poor sexual health knowledge compared with local students.
METHODS: Thematic analysis was undertaken on focus groups carried out at the University of Adelaide (South Australia), with 21 female international students from Malaysia and China.
RESULTS: Four themes were identified: poor sexual health knowledge; complex attitudes about premarital sex; difficulty accessing sexual health information, and poor understanding the role of general practitioners in this area; and ideas about future education.
DISCUSSION: Participants believed that international students have insufficient sexual health education when they arrive in Australia. They were concerned that some students may become more sexually active in Australia, and may not have adequate access to health services and information. All participants felt it was necessary for international students to receive better sexual health education. International students are important to Australian universities, and it should be mandatory to ensure that culturally appropriate sex education is made available to this group.
To determine the mean values for central corneal thickness (CCT) and intraocular pressure (IOP) and the relationship between these values, in healthy Malay children to serve as reference values in diagnosis and treatment.
We report the first two Malaysian children with partial deletion 9p syndrome, a well delineated but rare clinical entity. Both patients had trigonocephaly, arching eyebrows, anteverted nares, long philtrum, abnormal ear lobules, congenital heart lesions and digital anomalies. In addition, the first patient had underdeveloped female genitalia and anterior anus. The second patient had hypocalcaemia and high arched palate and was initially diagnosed with DiGeorge syndrome. Chromosomal analysis revealed a partial deletion at the short arm of chromosome 9. Karyotyping should be performed in patients with craniostenosis and multiple abnormalities as an early syndromic diagnosis confers prognostic, counselling and management implications.
To describe a case of isolated infraorbital mass which had been present for the past 9 years in a young woman. Despite the size, the mass was successfully excised in total.
Transfusion is an irreversible event which carries potential benefits as well as risk to the recipient. The objective of this study was to analyse all reported transfusion reactions of the year 2008 in the Blood Bank Unit of Universiti Kebangsaan Malaysia Medical Centre (UKMMC). This is a retrospective study that was carried out by retrieving data from the laboratory information system. A total of 27842 transfusions were documented and the total reported transfusion reactions were 149. The incidence of transfusion reaction was 1 in 187 of all transfusions (0.54%); in which 69 (0.25%) were allergic in nature and 61 (0.22%) were febrile non-haemolytic transfusion reactions (FNHTR). Hypotensive reactions were identified in 6 (0.02%) patients. There were 9 (0.03%) cases reported with haemoglobinuria where no serological evidence of haemolytic transfusion reaction (HTR) was found. One HTR (0.003%) was identified and this was due to an error in patient identification in the ward. Other specified reactions like transfusion-related acute lung injury (TRALI), bacterial infections, Graft verses host disease (GVHD) were not reported. The highest frequency of the reactions occurred in the red cell transfusions which accounted for 111 cases. In conclusion, the incidences of transfusion reactions are low when compared to those reported by other centres.
Takotsubo cardiomyopathy is a rare, acute, nonischemic cardiomyopathy causing transient left ventricular dysfunction, which can mimic myocardial infarction on its presentation. While many cardiac manifestations have been associated with hyperthyroidism, we report a rare case where it has precipitated takotsubo cardiomyopathy.
Self-regulation theory and research suggests that different types of mental imagery can promote goal-directed behaviors. The present study was designed to compare the efficacy of approach imagery (attainment of desired goal states) and process imagery (steps for enacting behavior) in promoting physical activity among inactive individuals. A randomized controlled trial was conducted with 182 inactive adults who received one of four interventions for generating mental images related to physical activity over a 4-week period, with Approach Imagery (approach versus neutral) and Process Imagery (process versus no process) as the intervention strategies. Participants received imagery training and practiced daily. Repeated measures ANOVAs revealed that Approach Imagery: (1) increased approach motivations for physical activity at Week 4; (2) induced greater intentions post-session, which subsequently induced more action planning at Week 4; (3) enhanced action planning when combined with process images at post-session and Week 1; and (4) facilitated more physical activity at Week 4 via action planning. These findings suggest that inducing approach orientation via mental imagery may be a convenient and low-cost technique to promote physical activity among inactive individuals.
As is the case in many developing nations, previous studies of breast cancer screening behavior in Malaysia have used relatively small samples that are not nationally representative, thereby limiting the generalizability of results. Therefore, this study uses nationally representative data from the Malaysia Non-Communicable Disease Surveillance-1 to investigate the role of socio-economic status on breast cancer screening behavior in Malaysia, particularly differences in screening behaviour between ethnic groups. The decisions of 816 women above age 40 in Malaysia to screen for breast cancer using mammography, clinical breast exams (CBE), and breast self-exams (BSE) are modeled using logistic regression. Results indicate that after adjusting for differences in age, education, household income, marital status, and residential location, Malay women are less likely than Chinese and Indian women to utilize mammography, but more likely to perform BSE. Education level and urban residence are positively associated with utilization of each method, but these relationships vary across ethnicity. Higher education levels are strongly related to using each screening method among Chinese women, but have no statistically significant relationship to screening among Malays.
The National Health and Morbidity Survey III 2006 wanted to perform anthropometric measurements (length and weight) for children in their survey. However there is limited literature on the reliability, technical error of measurement (TEM) and validity of these two measurements. This study assessed the above properties of length (LT) and weight (WT) measurements in 130 children age below two years, from the Hospital Universiti Kebangsaan Malaysia (HUKM) paediatric outpatient clinics, during the period of December 2005 to January 2006. Two trained nurses measured WT using Tanita digital infant scale model 1583, Japan (0.01kg) and Seca beam scale, Germany (0.01 kg) and LT using Seca measuring mat, Germany (0.1cm) and Sensormedics stadiometer model 2130 (0.1cm). Findings showed high inter and intra-examiner reliability using 'change in the mean' and 'intraclass correlation' (ICC) for WT and LT. However, LT was found to be less reliable using the 'Bland and Altman plot'. This was also true using Relative TEMs, where the TEM value of LT was slightly more than the acceptable limit. The test instruments were highly valid for WT using 'change in the mean' and 'ICC' but was less valid for LT measurement. In spite of this we concluded that, WT and LT measurements in children below two years old using the test instruments were reliable and valid for a community survey such as NHMS III within the limits of their error. We recommend that LT measurements be given special attention to improve its reliability and validity.
Study site: Paediatric clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
INTRODUCTION: Carpal Tunnel Syndrome is known to be a common complication during pregnancy especially during the third trimester.
AIM: This article focuses on its impact to the third trimester pregnant mothers with CTS.
METHODS: Third trimester pregnant mothers with no other known risk factors for CTS, were interviewed and examined for a clinical diagnosis of CTS. The severity of CTS was assessed by means of symptoms severity and functionality using the Boston Carpal Tunnel Questionnaire.
RESULTS: Out of 333 third trimester pregnant mothers, 82 (24.6%) were clinically diagnosed with CTS. Malay race was found to have significant correlation with the diagnosis of CTS (p = 0.024) and are two times more likely to get CTS during pregnancy (OR = 2.26) compare to the non-Malays. Bilateral CTS was two times higher (n = 58, 63.4%) than unilateral cases (n = 30, 36.6%), however no significant correlation between the two was found with severity (p = 0.284) or functional (p = 0.906). The commonest complaint was numbness/tingling during day time (n = 63, 76.8%). Majority of the CTS cases were mild (n = 66, 80.5%) and approximately one third (n = 28, 34.1%) had affected hand functions. All symptoms related to pain was found to have significant correlation with severity (p = 0.00, OR = 12.23) and function (p = 0.005, OR = 5.01), whereas numbness and tingling does not (Severity, p = 0.843, function, p = 0.632).
CONCLUSION: This study shows that even though CTS in third trimester pregnancy is prevalent, generally it would be mild. However, function can still be affected especially if patients complain of pain.
Foreign bodies or objects in the ear are one of the most common problems encountered by otorhinolaryngologist (ORL) with attendant complications, removal of which requires expertise. Patients with this problem who sought treatment in the otorhinolaryngology clinic of Hospital Universiti Sains Malaysia (HUSM) were studied for duration of one year from January 2010 to December 2010. Specifically, the clinical presentation, type of foreign body and management outcome were analysed. 72 patients were reviewed - 44 (61.1%) males and 28 (38.9%) females. The age range was one year to 75 years with 59.8% being children below 10 years old. Ear pain (56.9%) was recorded as the most common and persistent symptom and insects (54%) were the commonest foreign body encountered. 95% (69) of the foreign bodies were removed under clinic setting with only three (4.2%) cases requiring general anaesthesia. Post-removal complications were noted in only one patient (1.4%). Repeated attempts by untrained personnel should be avoided and timely referral is vital to avoid undesirable complications.
Study site: torhinolaryngology clinic of Hospital Universiti Sains Malaysia (HUSM)
The incidence of rhinolith is by far very low compared to the nasal foreign bodies, especially in adult. Foreign body (FB) in the nostril will lead to unilateral nasal symptom which can start with nasal obstruction or discomfort. In younger children, they may miss to report the problem to the parents but, later on, the FB will manifest itself with unilateral nasal discharge, which at most of the time fouls smells. We report a case of a healthy adult female who presented with unilateral foul smelly nasal discharge which later was diagnosed as rhinolith, with rubber-tip pencil eraser as the nidus of calcification.
The case of a 10-year-old girl is presented who had a slow-growing, painless swelling on the left side of the tongue since six months. This was associated with disturbances in mastication and phonation. Examination revealed a 5 cm x 4 cm. globular smooth, mobile mass on left side of the tongue. There was no neurological deficit and no neck nodes palpable. She underwent excision of the mass under general anaesthesia. Complete enucleation with primary closure was carried out. The patient had an uneventful postoperative recovery and histological evaluation was consistent with schwannoma. The patient was recurrence free after one year.
Four morphologically cryptic species of the Bactrocera dorsalis fruit fly complex (B. dorsalis s.s., B. papayae, B. carambolae and B. philippinensis) are serious agricultural pests. As they are difficult to diagnose using traditional taxonomic techniques, we examined the potential for geometric morphometric analysis of wing size and shape to discriminate between them. Fifteen wing landmarks generated size and shape data for 245 specimens for subsequent comparisons among three geographically distinct samples of each species. Intraspecific wing size was significantly different within samples of B. carambolae and B. dorsalis s.s. but not within samples of B. papayae or B. philippinensis. Although B. papayae had the smallest wings (average centroid size=6.002 mm±0.061 SE) and B. dorsalis s.s. the largest (6.349 mm±0.066 SE), interspecific wing size comparisons were generally non-informative and incapable of discriminating species. Contrary to the wing size data, canonical variate analysis based on wing shape data discriminated all species with a relatively high degree of accuracy; individuals were correctly reassigned to their respective species on average 93.27% of the time. A single sample group of B. carambolae from locality 'TN Malaysia' was the only sample to be considerably different from its conspecific groups with regards to both wing size and wing shape. This sample was subsequently deemed to have been originally misidentified and likely represents an undescribed species. We demonstrate that geometric morphometric techniques analysing wing shape represent a promising approach for discriminating between morphologically cryptic taxa of the B. dorsalis species complex.