We diagnosed T-cell acute lymphoblastic leukemia (T-ALL) with multiple cytogenetic abnormalities in a 17-year-old girl a year after she had received a diagnosis of acute promyelocytic leukemia (APML). After the diagnosis of APML in June 2001, the patient was treated with idarubicin and all-trans-retinoic acid. In September 1999, her younger sister also received a diagnosis of APML and to date has remained well. T-ALL after remission of APML is very rare, and only 1 such case has been reported. Possible causes include therapy-related reasons, genetic susceptibility to leukemia, and environmental exposure.
Traumatic brain injury (TBI) is an increasingly major world health problem. This short review using the most pertinent articles on TBI caregiving problems and needs highlights the pressing issues. Articles focusing on both TBI-caregivers' problems and needs are rarely found, especially for developing countries. Most TBI-caregiving is done by family members, whose altered lives portend burden and stresses which add to the overwhelming demand of caring for the TBI-survivor. Lack of information, financial inadequacy, anxiety, distress, coping deficits, poor adaptability, inadequate knowledge and skills, and a poor support system comprise the major problems. Dysfunctional communication between caregivers and care-receivers has been little researched. The major needs are focused on health and rehabilitation information, financial advice and assistance, emotional and social support, and positive psychological encouragement. In time, health information needs may be met, but not emotional support. Information on TBI caregiving problems and unmet needs is critical to all relevant healthcare stakeholders.
A throat swab from a 9 year old girl with pharyngitis yielded a non-toxigenic strain of Corynebacterium diphtheriae var mitis and Streptococcus group G. C pseudodiphtheriticum was isolated from the throats of two of her four brothers. In each case the isolate was sent to the reference laboratory before full identification. The growth was found to be mixed for one brother; the other isolate being a toxin producing C diphtheriae var gravis. The child was asymptomatic and the case proves that all colonial types on the Hoyles plate should be identified.
Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulation in body tissues, including the brain, and causes various neurological symptoms such as encephalopathy, hypotonia, apnea, intractable seizures and possible death. We screened 14 patients from 13 families with clinical and biochemical features suggestive of GCE for mutation in AMT, GLDC and GCSH genes by direct sequencing and genomic rearrangement of GLDC gene using a multiplex ligation-dependant probe amplification. We identified mutations in all 14 patients. Seven patients (50%) have biallelic mutations in GLDC gene, six patients (43%) have biallelic mutations in AMT gene and one patient (7%) has mutation identified in only one allele in GLDC gene. Majority of the mutations in GLDC and AMT were missense mutations and family specific. Interestingly, two mutations p.Arg265His in AMT gene and p.His651Arg in GLDC gene occurred in the Penan sub-population. No mutation was found in GCSH gene. We concluded that mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population.
OBJECTIVES: In this cross-sectional study we compared the central aortic systolic pressure (CASP), peripheral brachial systolic pressure (PSP), peripheral brachial diastolic pressure (PDP) and augmentation index (AIx) between normotensive offspring of nonhypertensive parents (ONT) and normotensive offspring with at least one hypertensive parent (OHT).
METHODOLOGY: A total of 100 healthy ONT (mean age 20.95 ± 2.06) and 100 healthy OHT (mean age 20.89 ± 2.12) individuals were recruited. Parental history of hypertension was determined by detailed history taking. CASP, PSP, PDP and AIx were measured using the BPro device. All blood pressure (BP) measurements were calibrated using oscillometric BP readings.
RESULTS: The OHT group had higher PSP (117.57 ± 10.06 versus 114.52 ± 8.94, P < 0.05), PDP (72.39 ± 7.28 versus 70.39 ± 6.50, P < 0.05) and CASP (103.72 ± 8.95 versus 101.37 ± 7.74, P < 0.05) compared to the ONT group. There was no significant difference in AIx in the ONT group (57.97 ± 11.02 versus 58.08 ± 12.16, P = 0.95) in comparison to the OHT group. However, following adjustments for certain cardiovascular risk factors, only PSP (117.33 versus 114.76, P < 0.05) remained significantly higher in the OHT group compared to the ONT group. Analysis of adjusted data within sex showed that CASP was higher in the female OHT group compared to the female ONT group, whereas PDP were higher in the male OHT group compared to the male ONT group.
CONCLUSION: Alterations in PSP, PDP and CASP are already present in early life in normotensive offspring of hypertensive parents, with possible differences in mechanism between different sexes.
Study site: Clinical Research Laboratory in Cyberjaya University College of Medical Sciences, Selangor, Malaysia
While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families.
Matched MeSH terms: Family Health/statistics & numerical data*
OBJECTIVE: To validate the Medical Outcomes Study Family and Marital Functioning Measures (FMM and MFM) in a multi-ethnic, urban Asian population in Singapore.
METHODS: English speaking Chinese, Malay or Indian SLE patients (n=120) completed a self-administered questionnaire containing the FFM and MFM at baseline, after 2 weeks and after 6 months. Lupus activity, disease-related damage and quality of life were assessed using the British Isles Lupus Assessment Group (BILAG), Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index and SF-36 Health Survey respectively. Scale psychometric properties were assessed through factor analysis, Cronbach's alpha, quantifying test-retest differences and known-groups construct validity.
RESULTS: Factor analysis of scores obtained at baseline and after 6 months identified 3 factors corresponding to the FFM (1 factor) and the MFM (2 factors). Both scales showed acceptable internal consistency, with Cronbach's alpha of 0.95 for the FFM and 0.70 for the MFM. Mean (s.d.) test-retest differences were -0.31 (3.82) points for the FFM and -0.70 (4.26) points for the MFM. Eleven out of 13 a priori hypotheses relating both the FFM and MFM to demographic, disease and quality of life variables were confirmed, supporting the construct validity of these scales.
CONCLUSION: The FFM and MFM are valid and reliable measures of family and marital functioning in a multi-ethnic cohort of Asian SLE patients in Singapore.
The simian parasite Plasmodium knowlesi is a common cause of human malaria in Malaysian Borneo, with a particularly high incidence in Kudat, Sabah. Little is known however about the epidemiology in this substantially deforested region.
Introduction : Family Health Development Division is one of the earliest divisions in Public Health Department, Ministry of Health Malaysia. The division has progressed each year with the extension and expansion of the scopes of services since the establishment of Maternal and Child Health Unit in 1956. The services currently include school children, adolescent, adult and elderly health and also known as life-course perspective: from womb to tomb.
Objectives : The objective is to elaborate and explain the reformation of primary health care services implemented in the past and present.
Methods : The methodology applied is compilation, data review and comparison from annual report, action plan report, articles, speeches, specialists and stake holder view.
Results : The focus of Primary Health Care Service is covering health promotion, disease prevention, early detection and treatment, acute disease care, disease limitation and rehabilitation, clinical support services and teleprimary care. The reformation is caused by factors such as globalization, modernization, growth of health market, emergence and re-emergence of diseases, and development of medical technology. Three health fields that have underwent and under going reformation are concept and wellness practise in primary healthcare, primary healthcare clinical support services development and primary healthcare informatics development. The outcome of these reformations is the increment of service quality and outstanding services for patients and health staffs.
Conclusion : Health reformation in primary healthcare is greatly needed to give excellent services for primary health care for today and future.
The Family Health Programme in Malaysia started off with a humble beginning in the 1920s by the introduction of midwifery legislation under the Straits Settlement Ordinance and the Federal Malay states Midwifery Enactment. Institutionalisation of nursing training took placed in the 1940s while the rural health services for pregnant women and children were established in the 1950’s. In 1967, the school health program was initiated, followed by the de-livery of the school health services in 1972. The Ministry of Health (MoH) set up a Maternal and Child Health unit within the MoH organisation in 1974 to oversee the maternal, child and school health activities. In 1996, the Family Health Development Division was established with the prenatal, adolescent, adult, people with disability and nu-trition health services were incorporated into the family health activities. Subsequently, the age-group wellness and population genetic screening were introduced in year 2000. The family health programme has embraced the public health approach as its building blocks. Throughout the years, individual patient care has advanced the most through the improvement of standards and quality of services within the health clinics. Plateauing of maternal mortality ratio and under-5 mortality rate, increasing trend of non-communicable diseases, remerging of communicable diseases, urbanisation and globalization, and increasing ageing population are new challenges in the delivery of family health services to the community. In order to cater for these challenges, it is crucial to recognise the population health as one of the main component in the family health programmes. Transformation in the scope of new family and popu-lation health is needed to improve the delivery of family programme beyond the boundary of MoH facilities.
The tracer concept was applied to evaluate the delivery of family health care and the training of family health workers. A retrospective evaluation permitted linking the products of care to process, input and context, by isolating and analysing potential factors contributing to a limited number of representative concerns. Contributory learning deficiencies identified in health workers, one input to health care as well as a product of training, enabled the evaluation of training programmes to be focused on related segments of the courses. The latter were evaluated through a pathway analysis which followed the same deficiency model as the evaluation of health care. Links were thus established between the traditionally compartmentalized training and service sectors in health.
Charcot-Marie-Tooth (CMT) disease is a form of inherited peripheral neuropathy that affects motor and sensory neurons. To identify the causative gene in a consanguineous family with autosomal recessive CMT (AR-CMT), we employed a combination of linkage analysis and whole exome sequencing. After excluding known AR-CMT genes, genome-wide linkage analysis mapped the disease locus to a 7.48-Mb interval on chromosome 14q32.11-q32.33, flanked by the markers rs2124843 and rs4983409. Whole exome sequencing identified two non-synonymous variants (p.T40P and p.H915Y) in the AHNAK2 gene that segregated with the disease in the family. Pathogenic predictions indicated that p.T40P is the likely causative allele. Analysis of AHNAK2 expression in the AR-CMT patient fibroblasts showed significantly reduced mRNA and protein levels. AHNAK2 binds directly to periaxin which is encoded by the PRX gene, and PRX mutations are associated with another form of AR-CMT (CMT4F). The altered expression of mutant AHNAK2 may disrupt the AHNAK2-PRX interaction in which one of its known functions is to regulate myelination.
INTRODUCTION: HIV-positive people are often more susceptible to illnesses associated with smoking, for example, cardiovascular disease, than those in the general population. The purpose of this article is to examine the association between tobacco use and HIV-status in India.
METHODS: This article analyzed data from the National Family Health Survey III, which provides a representative sample of the Indian population. Patterns in tobacco consumption among HIV-positive and negative respondents were assessed through logistic and ordinal regression models. Associations between smoking, asthma, and tuberculosis were examined through bivariate logistic regressions.
RESULTS: A greater percentage of male HIV-positive participants (68%) reported current tobacco use in comparison to male HIV-negative respondents (58%) and female HIV-positive (12%) and negative (11%) participants. Multivariable logistic regression analyses revealed that there was a positive correlation between male respondents' HIV-status and their propensity to use tobacco (odds ratio [OR] = 1.48, confidence interval [CI] = 1.05-2.1, P < .05) when controlled for extraneous variables. Results from ordinal regression analyses illustrated that male HIV-positive respondents had a twofold increased OR of smoking 20 or more cigarettes (OR = 2.1, CI = 1.4-3.2, P < .005). Finally, there was a positive association between being HIV-infected (adjusted odds ratio [AOR] = 4.6, CI = 2.02-10.6, P < .005), smoking 15-19 cigarettes (AOR = 2.11, CI = 1.1-4.1, P < .05) and male participants' TB-status.
CONCLUSIONS: Results in this article suggest HIV-positive men in India were not only significantly more likely to consume tobacco, but they also smoked a higher number of cigarettes compared to their HIV-negative counterparts. This is a cause for concern as our analyses revealed a possible association between the number of cigarettes smoked and TB-status.
IMPLICATIONS: This article contributes to knowledge on the intertwining epidemics of HIV and smoking through using cross-sectional data from the National Family Survey III to demonstrate that HIV-positive men in India display patterns of tobacco consumption which differs to that of HIV-negative men. These findings could have strong implications for long-term treatment of HIV-positive patients as smoking has been proven to increase the likelihood of contracting HIV-related illnesses.
To evaluate ocular biometric parameters and darkroom prone provocative test (DPPT) in family members of primary angle closure (PAC) glaucoma (PACG) patients and to establish any correlation between these biometric parameters and the DPPT response.
Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severity of disease. HP is commonly caused by variants/mutations in the PRSS1 gene as reported in many studies. Therefore, in this study, we aimed to investigate the possible association of PRSS1 gene variants/mutations in a Malaysian Chinese family with HP.
PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia.
METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016.
RESULTS: In our epilepsy cohort (n=2100), 18.7% were diagnosed to have GGE. Of those, 28.6% >(N=112) had family history of epilepsy with a mean age of seizure onset of 16.5 years old, and 42.0% had myoclonic seizures (N=47). The lifetime prevalence of epilepsy among first-degree relative of those with GGE and positive family history was 15.0%. Analysis according to ethnicity showed that Malaysian Chinese had the lowest percentage of GGE among those with epilepsy (12.3%), as compared with Indian and Malay (25.3% and 21.3%, p<0.001). In addition, 32.1% of these Indian patients with GGE had positive family history, which is more than the Malay (26.4%) and Chinese (27.5%) ethnic groups. Consanguineous marriage was noted in 5 Indian families with positive family history (9.6%).
CONCLUSION: There was ethnic variation in the prevalence of GGE, whereby the Malaysian Chinese had the lowest percentage of GGE as compared with Indian and Malay. A substantial proportion of GGE had positive family history among the three ethnics groups.
Study site: neurology outpatient clinic, University of Malaya Medical Centre (UMMC)
Cases of genital self-mutilation are usually seen in the general hospital setting and can be difficult to manage especially in those patients who have psychiatric illness. A joint effort between the psychiatric and the surgical services will be required right from the beginning of hospital admission to diagnosis and later, to follow-up. Psychiatric consultation strategies at the different phases of intervention will be needed to cater for the special needs of the surgical team, patient and family. We describe three cases of genital self- mutilators and the general management of these patients.
Bell's palsy is a benign lower motor neuron facial nerve disorder. It is almost always unilateral. We report a 20-year-old nulliparous woman with five episodes of recurrent Bell's palsy. A review of recent medical literature revealed a paucity of case reports involving an individual with five episodes of recurrent Bell's palsy, with none found in Asian neurology medical literature. Despite the multiple episodes of Bell's palsy recurrences, the patient did not suffer much neurological sequelae from the disease.
A total of 1018 and 812 first degree relatives (FDR) of schizoprencies and controls respectively, were studied to find out the psychiatric morbidity in the families of paranoid and non-paranoid schizophrenia patients. The risk of schizophrenia and affective disorders was found to be independent of the probands subtype diagnosis. The risk for schizoid-schizotypal and paranoid personality disorders was found to be increased in the first degree relatives of paranoid schizophrenic, as compared to non-paranoid schizophrenic, thus suggesting that the psychopathology in the FDR may differ with the subtype diagnosis of the proband.
A validated study of the Self-Reporting Questionnaire (SRQ-20) of the World Health Organization against ICD-9 was found to have good validation indices at the cut-off point of 5/6. The sensitivity was 84.8% and specificity 83.7%. However, SRQ-24 had poor validation indices and are too sensitive to detect psychotic illness. Twenty-three per cent of 264 schizophrenic relatives who had been staying together with them and or actively involved in their care for at least one year had neurotic disorders compared with 1% who had latent schizophrenia. The prevalence of psychiatric morbidity was higher in the first-degree relatives compared with non-first degree relatives.