MyMedR

Displaying publications 1801 - 1820 of 2816 in total

Abstract:

Sort:

Fulltext Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB)

Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R

Malays J Pathol, 2006 Jun;28(1):7-15.
PMID: 17694954 MyJurnal

Familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB) are autosomal dominant inherited diseases of lipid metabolism caused by mutations in the low density lipoprotein (LDL) receptor and apolipoprotein B 100 genes. FH is clinically characterised by elevated concentrations of total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C), presence of xanthomata and premature atherosclerosis. Both conditions are associated with coronary artery disease but may be clinically indistinguishable. Seventy-two (72) FH patients were diagnosed based on the Simon Broome's criteria. Mutational screening was performed by polymerase chain reaction (PCR)-denaturing gradient gel electrophoresis (DGGE). Positive mutations were subjected to DNA sequencing for confirmation of the mutation. We successfully amplified all exons in the LDL receptor and apo B100 genes. DGGE was performed in all exons of the LDL receptor (except for exons 4-3', 18 and promoter region) and apo B100 genes. We have identified four different mutations in the LDL receptor gene but no mutation was detected in the apo B 100 gene. The apo B100 gene mutation was not detected on DGGE screening as sequencing was not performed for negative cases on DGGE technique. To our knowledge, the C234S mutation (exon 5) is a novel mutation worldwide. The D69N mutation (exon 3) has been reported locally while the R385W (exon 9) and R716G (exon 15) mutations have not been reported locally. However, only 4 mutations have been identified among 14/72 patients (19.4%) in 39 FH families. Specificity (1-false positive) of this technique was 44.7% based on the fact that 42/76 (55.3%) samples with band shifts showed normal DNA sequencing results. A more sensitive method needs to be addressed in future studies in order to fully characterise the LDLR and apo B100 genes such as denaturing high performance liquid chromatography. In conclusion, we have developed the DNA analysis for FH patients using PCR-DGGE technique. DNA analysis plays an important role to characterise the type of mutations and forms an adjunct to clinical diagnosis.

Matched MeSH terms: Child, Preschool
alpha1-Antitrypsin deficiency is not an important cause of childhood liver diseases in a multi-ethnic Southeast Asian population

Lee WS, Yap SF, Looi LM

J Paediatr Child Health, 2007 Sep;43(9):636-9.
PMID: 17688648

We conducted a prospective study to determine the role of alpha1-antitrypsin (alpha1AT) deficiency in the pathogenesis of neonatal cholestasis and other childhood liver diseases in a multi-ethnic Southeast Asian population.

Matched MeSH terms: Child, Preschool
Fulltext Plasmodium knowlesi malaria in humans is widely distributed and potentially life threatening

Cox-Singh J, Davis TM, Lee KS, Shamsul SS, Matusop A, Ratnam S, et al.

Clin Infect Dis, 2008 Jan 15;46(2):165-71.
PMID: 18171245 DOI: 10.1086/524888

BACKGROUND: Until recently, Plasmodium knowlesi malaria in humans was misdiagnosed as Plasmodium malariae malaria. The objectives of the present study were to determine the geographic distribution of P. knowlesi malaria in the human population in Malaysia and to investigate 4 suspected fatal cases.
METHODS: Sensitive and specific nested polymerase chain reaction was used to identify all Plasmodium species present in (1) blood samples obtained from 960 patients with malaria who were hospitalized in Sarawak, Malaysian Borneo, during 2001-2006; (2) 54 P. malariae archival blood films from 15 districts in Sabah, Malaysian Borneo (during 2003-2005), and 4 districts in Pahang, Peninsular Malaysia (during 2004-2005); and (3) 4 patients whose suspected cause of death was P. knowlesi malaria. For the 4 latter cases, available clinical and laboratory data were reviewed.
RESULTS: P. knowlesi DNA was detected in 266 (27.7%) of 960 of the samples from Sarawak hospitals, 41 (83.7%) of 49 from Sabah, and all 5 from Pahang. Only P. knowlesi DNA was detected in archival blood films from the 4 patients who died. All were hyperparasitemic and developed marked hepatorenal dysfunction.
CONCLUSIONS: Human infection with P. knowlesi, commonly misidentified as the more benign P. malariae, are widely distributed across Malaysian Borneo and extend to Peninsular Malaysia. Because P. knowlesi replicates every 24 h, rapid diagnosis and prompt effective treatment are essential. In the absence of a specific routine diagnostic test for P. knowlesi malaria, we recommend that patients who reside in or have traveled to Southeast Asia and who have received a "P. malariae" hyperparasitemia diagnosis by microscopy receive intensive management as appropriate for severe falciparum malaria.

Matched MeSH terms: Child, Preschool
Lung abscess rather than pneumatocele following kerosene ingestion

Abd Aziz A, Abdullah AF, Mahmud A

Br J Hosp Med (Lond), 2007 Nov;68(11):616-7.
PMID: 18087856 DOI: 10.12968/hmed.2007.68.11.27686
Matched MeSH terms: Child, Preschool
Paediatric deaths in Kuala Lumpur

Kumar V, Jumali IB

Med Sci Law, 2006 Oct;46(4):301-9.
PMID: 17191633

The main aim of this study was to determine the causes and epidemiological aspects of paediatric death. Data was collected on 143 cases of paediatric death from a total of 2,895 autopsies performed in University Malaya Medical Centre (UMMC), Kuala Lumpur, over a five-year period from 2000 to 2004. There were 78 males and 65 females. The largest number of cases (32.9%) were stillborn. The highest proportion of cases (30.1%) were Chinese. The majority of cases of paediatric death were non-traumatic (74.8%) of which intrauterine death (IUD) was the most common (32.9%). Amongst the traumatic deaths (25.2%), accidental injury (23.8%) was observed in the majority of cases.

Matched MeSH terms: Child, Preschool
Fulltext Repeated tourniquet testing as a diagnostic tool in dengue infection

Norlijah O, Khamisah AN, Kamarul A, Mangalam S

Med J Malaysia, 2006 Mar;61(1):22-7.
PMID: 16708730 MyJurnal

Prospective evaluation of repeated standard tourniquet testing as a diagnostic indicator of dengue infection was done. Included were patients admitted to a children's hospital in Kuala Lumpur on a clinical suspicion of dengue infection based on the World Health Organization (WHO) criteria. A standard method of tourniquet was performed on 79 patients on a daily basis following admission. subjects and negative in the remaining 14 subjects. Fifty-eight subjects were serologically confirmed cases, 4 indeterminate and the remaining 17 subjects had negative serology. For diagnostic classification, 13 had dengue fever, 49 with dengue haemmorhagic fever (DHF) while 17 had non-dengue infection. The sensitivity and specificity of the tourniquet test was 82.8% and 23.5% respectively. The positive predictive value (PPV) was 78.7% while the negative predictive value (NPV) was 28.6%. In addition, the tourniquet test aided in the diagnosis of one-fifth of patients with DHF, who presented with a positive tourniquet test as the only bleeding manifestation. It seems that in a hospital setting, the tourniquet test adds little to the diagnosis of dengue infection/DHF. A positive tourniquet test, repeatedly performed, was found clinically useful as a preliminary screening test in dengue infection as recommended by WHO. However, it was not very specific and had a high false positive rate.

Matched MeSH terms: Child, Preschool
Fulltext Culture-proven bacterial keratitis in a Malaysian general hospital

Hooi SH, Hooi ST

Med J Malaysia, 2005 Dec;60(5):614-23.
PMID: 16515113

One hundred patients (101 eyes) with culture-proven bacterial keratitis were treated in the Department of Ophthalmology, Hospital Sultanah Aminah, Johor Bahru, over a 4-year period. The majority of patients was male (63%), Malay (60%), from the Johor Bahru district (62%) and aged between 41 to 50 years (20%). The ocular predisposing factors were ocular trauma (41 eyes), ocular surface disease (28 eyes) and contact lens wear (26 eyes). The corneal ulcers were mainly large (50.5%), central (59.4%) and colonized by Gram-negative bacteria (78.1%). The most frequently isolated microorganisms were Pseudomonas aeruginosa (67 eyes), Staphylococcus aureus (12 eyes), Acinetobacter baumanii (6 eyes), Klebsiella pneumoniae (5 eyes), Corynebacterium sp. (3 eyes:) and Streptococcus pneumonliae (3 eyes). Twelve eyes (11.8%) had polymicrobial infection. A good visual outcome occurred in 52.5% of eyes analysed. Prognostic factors for visual outcome include presenting Snellen visual acuity, time to presentation after onset of ocular symptoms, ocular predisposing factor, corneal ulcer location and corneal ulcer size.

Matched MeSH terms: Child, Preschool
A study of sudden natural deaths in medico legal autopsies in University Malaya Medical Centre (UMMC), Kuala Lumpur

Kumar V, San KP, Idwan A, Shah N, Hajar S, Norkahfi M

J Forensic Leg Med, 2007 Apr;14(3):151-4.
PMID: 16914354

The main aim of this study is to determine the causes and the epidemiological aspects of sudden natural deaths. Data were collected from 545 sudden natural autopsies in UMMC, Kuala Lumpur over a five-year period, from 1st January 2000 to 31st December 2004. There were 475 males and 70 females. The largest number of sudden natural deaths was in the age group of 41-50 years. 35.8%, 30.5% and 11.7% of the patients were Chinese, Indian and Malay, respectively. A majority of the patients were married (59.8%) and came from the semiskilled-unskilled group (30.6%). The monthly distribution was almost constant. Cardiovascular diseases were the most important cause contributing 64.9% in sudden natural deaths.

Matched MeSH terms: Child, Preschool
[Bidirectional Glenn shunt without cardiopulmonary bypass]

Maeba S, Nemoto S, Hamdan L, Okada T, Azhari M

Kyobu Geka, 2006 Nov;59(12):1075-8.
PMID: 17094543

From April 2002 to March 2005, 18 patients having undergone bidirectional Glenn shunt (BDG) without cardiopulmonary bypass (CPB) [off-pump BDG] were retrospectively reviewed. During BDG anastomosis, a temporary bypass was established between superior vena cava (15) or innominate vein (3) and main pulmonary artery (16) or right atrium (2). Hemodynamics and oxygenation were maintained well throughout the temporary bypass time. There was no emergent use of CPB. Mean transpulmonary pressure gradient immediately after and 24 hours after the BDG were 6.7 and 5.6 mmHg, respectively. Echocardiography showed mild flow turbulence at the anastomosis in 1 case. This simple and inexpensive technique provided good surgical view with stable hemodynamics enabling satisfactory BDG in selected cases. Furthermore, it could avoid adverse effects of CPB such as lung injury and possible blood transfusion. This experience would encourage off-pump BDG combined with more challenging procedures.

Matched MeSH terms: Child, Preschool
Parotid abscess: a five-year review--clinical presentation, diagnosis and management

Tan VE, Goh BS

J Laryngol Otol, 2007 Sep;121(9):872-9.
PMID: 17112392

Parotid abscess is an uncommon complication of suppurative infection of the parotid gland parenchyma, commonly bacterial or viral. Ductal ectasis, primary parenchymal involvement, or infection of the intraparotid or periparotid lymph nodes can result in abscess formation. Parotid abscess may arise from ductal ectasis, primary parenchymal involvement, or infection of the subcapsular lymph nodes. The operative records for all the patients who underwent surgeries in the Department of Otorhinolaryngology, Head and Neck Surgery of the National University Hospital, Kuala Lumpur, Malaysia between January 2001 and December 2005 were retrospectively reviewed. Our case series comprises 15 patients, with 10 males and five females with a median age at presentation of 51 years old. Diabetes mellitus is a significant comorbid factor, with six patients being diabetics. Among the diabetics, two patients presented with facial nerve palsy and one of them also died due to overwhelming septicaemia. Here, we discuss the presenting symptoms, predisposing factors, investigations, microbiology and complications of this condition.

Matched MeSH terms: Child, Preschool
Cefepime monotherapy for treatment of febrile neutropenia in children

Ariffin H, Ai CL, Lee CL, Abdullah WA

J Paediatr Child Health, 2006 Dec;42(12):781-4.
PMID: 17096713

Empirical therapy for children with febrile neutropenia has traditionally consisted of combination antibiotics, usually a beta-lactam and an aminoglycoside. However, recent trends and international guidelines have now made monotherapy a feasible option in the management of this group of patients. We prospectively evaluated the efficacy and safety of cefepime monotherapy in our population of paediatric cancer patients with febrile neutropenia.

Matched MeSH terms: Child, Preschool
Health Related Quality of Life in Malaysian children with thalassaemia

Ismail A, Campbell MJ, Ibrahim HM, Jones GL

Health Qual Life Outcomes, 2006;4:39.
PMID: 16813662

Health Related Quality of Life (HRQoL) studies on children with chronic illness such as thalassaemia are limited. We conducted the first study to investigate if children with thalassaemia have a lower quality of life in the four dimensions as measured using the PedsQL 4.0 generic Scale Score: physical, emotional, social and role (school) functioning compared to the healthy controls allowing for age, gender, ethnicity and household income.

Matched MeSH terms: Child, Preschool
G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia

Ainoon O, Boo NY, Yu YH, Cheong SK, Hamidah HN

Hematology, 2006 Apr;11(2):113-8.
PMID: 16753852 DOI: 10.1080/10245330500155184

A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.

Matched MeSH terms: Child, Preschool
Fulltext Deaths in children during an outbreak of hand, foot and mouth disease in Peninsular Malaysia--clinical and pathological characteristics

Shekhar K, Lye MS, Norlijah O, Ong F, Looi LM, Khuzaiah R, et al.

Med J Malaysia, 2005 Aug;60(3):297-304.
PMID: 16379183

From July through December 1997, 11 previously healthy children in Peninsular Malaysia succumbed to an illness clinically characterised by an acute severe refractory left-ventricular failure, following a brief prodromal illness, in the midst of an outbreak of hand, foot and mouth disease (HFMD), similar to the reported experience in Sarawak and Taiwan. Retrospective reviews of the clinical features and results of laboratory, pathological and virological investigations of cases were conducted. The median age of the 11 case-patients was 31 months (range, 13 to 49 months); 6 were males. A brief prodromal illness of 3 days (range, 2 to 5 days) was characterised by fever (axillary temperature > 38 degrees C) (100%), oral ulcers (72%), extremity rashes (45%) and significant vomiting (55%). Upon hospitalisation, 7 of 11 case-patients had features suggestive of cardiogenic shock, while 4 of 11 case-patients developed shock during hospitalisation as evidenced by marked sustained tachycardia (heart rate > or = 180 beats per minute), poor peripheral pulses and peripheral perfusion, mottled extremities, pulmonary oedema (haemorrhagic pulmonary secretions in 8 of 11 cases during tracheal intubation, often precipitated by conservative crystalloid boluses, and radiographic evidence of acute pulmonary oedema in 5 of 7 cases) and markedly impaired left ventricular function on echocardiographic examination (7 of 7 cases). Three of 4 case-patients had aseptic meningitis while one case-patient also had an acute flaccid paraparesis. Despite supportive therapy, death occurred within a median of 13.4 hours following hospitalization. Post-mortem findings (all 8 specimens examined) consistently demonstrated brain-stem encephalitis with foci of neuronal necrosis and micro-abscesses. None of the 11 specimens examined revealed histological evidence of myocarditis. Enterovirus 71 (EV71) was detected in 10 of 11 case-patients, many (7) from various sterile tissue sites (5 from central nervous tissues). No other viruses were isolated or identified. Clinical features and pathological studies closely paralleled the reported experience in Sarawak and Taiwan. The uniform necropsy findings of necrotizing brain-stem encephalitis coupled with essentially normal myocardial histology, in concert with the concurrent and consistent detection of EV71 points to a primary EV71 encephalitis; as yet unclear neurogenic mechanisms may account for the cardiovascular manifestations.

Matched MeSH terms: Child, Preschool
Fulltext Epidemiology of Plasmodium knowlesi malaria in north-east Sabah, Malaysia: family clusters and wide age distribution

Barber BE, William T, Dhararaj P, Anderios F, Grigg MJ, Yeo TW, et al.

Malar J, 2012;11:401.
PMID: 23216947 DOI: 10.1186/1475-2875-11-401

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.

Matched MeSH terms: Child, Preschool
Using reference nutrient density goals with food balance sheet data to identify likely micronutrient deficits for fortification planning in countries in the Western Pacific region

Gibson RS, Cavalli-Sforza T

Food Nutr Bull, 2012 Sep;33(3 Suppl):S214-20.
PMID: 23193773

Collection of nationwide food consumption data at the individual level is the preferred option for planning fortification programs. However, such data are seldom collected in low-income countries. In contrast, Food Balance Sheets (FBS), published annually for approximately 180 countries, may provide a source of national data for program planning.

Matched MeSH terms: Child, Preschool
Fulltext Acute disseminated encephalomyelitis: a report of six cases

Thomas GST, Hussain IHMI

Med J Malaysia, 2004 Aug;59(3):342-51.
PMID: 15727380 MyJurnal

Six children with Acute Disseminated Encephalomyelitis (ADEM) were seen at the Penang Hospital over a two year period (July 1999-June 2001). Diagnosis was based upon typical clinical features and characteristic findings on neuroimaging. Cerebrospinal fluid examination and other investigations were done, where appropriate, to rule out other causes of central nervous system disease. Three children had a prodromal illness. The most common presenting symptoms were fever, seizures, ataxia, focal neurological deficits and labile mood. Two children presented with status epilepticus. All children had an abnormal neurological examination. Brain magnetic resonance imaging revealed hyperintense signals on T2-weighted and FLAIR sequences in the subcortical and deep white matter regions of the frontal, parietal, and temporal lobes, as well as in the thalami, cerebellum and brainstem. One child had multiphasic disseminated encephalomyelitis (three episodes). The child with multiphasic disease had only one treated episode, and has suffered mild disability. Three children were treated with either methylprednisolone or immunoglobulins, and remain well. One child received both treatments but expired as a result of severe gastrointestinal bleeding from the use of methylprednisolone. The child who was not treated has severe disability.

Matched MeSH terms: Child, Preschool
TEL-AML1 frequency in multi-ethnic Malaysian pediatric acute lymphoblastic leukemia

Gill HK, Keoh TS, Dhaliwal JS, Moore S, Kim TS, Hassan R, et al.

Cancer Genet. Cytogenet., 2005 Jan 15;156(2):129-33.
PMID: 15642392

Eighty-eight multi-ethnic Malaysian pediatric acute lymphoblastic leukemia (ALL) patients were screened for the TEL-AML1 rearrangement by reverse transcription-polymerase chain reaction (RT-PCR). Fluorescence in situ hybridization (FISH) was used as an independent screen for 30 cases and to confirm RT-PCR positive cases. Seventeen patients, or 19%, were found to be t(12;21) positive. Ethnically the group comprised 12 Malays, 4 Chinese, and 1 Indian. All patients, including 1 with an unusual blast cell morphology who suffered an early relapse and death, were characteristic TEL-AML1 cases in cell count, age, ALL subset classification, and fusion transcript expressed. This study shows that in Malaysia, TEL-AML1 is found in the same distinct ALL subset and at a similar frequency as in other diverse childhood ALL cohorts.

Matched MeSH terms: Child, Preschool
Cannon's disease: clinical and diagnostic implications: a case report

Ram S, Siar CH

Dent Update, 2004 Nov;31(9):557-9.
PMID: 15612463

Cannon's disease or white sponge naevus is a relatively rare genetically determined skin disorder. It is inherited as an autosomal dominant trait that displays a high degree of penetrance and expressivity. This article describes cases of Cannon's disease in a mother and her son.

Matched MeSH terms: Child, Preschool
Fulltext Non-accidental fatal head injury in small children--a clinico-pathological correlation

Nooraudah AR, Mohd Sham K, Zahari N, Fauziah K

Med J Malaysia, 2004 Jun;59(2):160-5.
PMID: 15559164

Non-accidental head injury leading to massive intracranial trauma has been identified as a leading cause of death in small children. In a typical case, a child usually below the age of one year is violently shaken, leading to rupture of the connecting veins between the dura mater and the brain substance with variable degrees of bleeding into the subdural space resulting in increased intracranial pressure. The accompanying venous thrombosis affecting the vessels of the brain substance leads to cerebral hypoxia and cellular death. In this study conducted throughout the year 1999, all children below the age of 3 years who were admitted to Hospital Kuala Lumpur and had died due to non-accidental injuries were included. Postmortems, including histopathological studies, were conducted to determine the most likely mechanisms of the injuries. Ten cases were identified for the whole year. In 2 cases, both below one year of age, the features presented showed evidence of violent shaking of the infants. In 6 other cases whose average age was 13 (range 4-24) months, there were evidences of direct trauma and violent shaking. In the last two cases, aged 24 and 33 months respectively, there was only evidence of direct trauma on the heads without being shaken. This study shows that death due to intracranial trauma caused by shaking with or without direct impact is the most frequent cause of mortality in abused children. Death due to direct impact between the head and another object is a less frequent occurrence.

Matched MeSH terms: Child, Preschool

Filters

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links