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1.
Dementia (London) ; 22(8): 1977-1993, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37708304

RESUMEN

BACKGROUND: Population ageing in low and middle-income Asian countries is associated with increased prevalence of dementia. The proportion of people with dementia in countries such as Bangladesh and Thailand are increasing. People with dementia can have complex care and health service needs. If these needs are not adequately met, this can result in a decreased quality of life and burden on the health system. There is considerable research into the needs of people with dementia in high-income countries. However, research on the needs of people living with dementia in low and middle-income countries remains underexplored. The aim of this study was to review and summarise the literature on the health and social care needs of older people with dementia in low and middle-income Asian countries. METHODS: Five online databases (PubMed, Scopus, Web of Science, CINAHL and PsycINFO) and google scholar were searched. The databases were searched using a selection of key words. PRISMA-ScR approach was followed in reporting the process. KEY FINDINGS: We extracted eight studies related to the health and social care needs of people with dementia that met our inclusion criteria. From the available literature, needs were categorised across five categories: (i) social, cognitive, and mental health needs; (ii) physical needs; (iii) care and service needs; (iv) knowledge-related needs; and (v) spiritual care needs. CONCLUSION: While eight papers were located which discussed the needs of people with dementia across a range of domains, this review demonstrates a deficit in the current evidence-base about the health and social care needs of people living with dementia in low and middle-income Asian countries. Further research is needed to identify health and care needs of people with dementia and how these needs are being met.


Asunto(s)
Demencia , Anciano , Humanos , Demencia/complicaciones , Países en Desarrollo , Calidad de Vida , Apoyo Social , Pueblo Asiatico
2.
Exp Oncol ; 43(2): 159-167, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-34190524

RESUMEN

BACKGROUND: To date, BRAF mutations in brain tumor patients have not been characterized in the Malaysian population. Based on the numerous reported studies, there are main mutations that exist in BRAF gene in various types of cancers. A missense mutation in codon 600 of the BRAF nuclear oncogene (BRAFV600E) is the most prevalent hotspot point mutation that has been identified in multiple human malignancies. AIM: We here aimed to find out the frequency of BRAFV600E mutation in a series of Malaysian patients with brain tumors and if any association exists between BRAFV600E mutation and clinicopathological features of patients. MATERIAL AND METHODS: Fresh frozen tumor tissue samples from 50 Malaysian brain tumor patients were analyzed for BRAFV600E mutational status, and its correlation with clinicopathological features (including age, gender, and tumor localization such as intra-axial: within the brain substance or extra-axial: outside the brain substance) was examined. RESULTS: The overall BRAFV600E mutation frequency was determined to be 22% (in 11 of 50 patients). BRAFV600E was significantly correlated with the tumor location group, which shows BRAFV600E was more frequent in the intra-axial tumor than the extra-axial tumor group. In this study, we also observed that male patients were slightly more susceptible to BRAFV600E mutation, and this mutation was predominant in patients of the age group < 40 years. However, these parameters did not translate to statistical significance. CONCLUSION: The data demonstrate that BRAFV600E mutation is observed significantly more often in intra-axial brain tumor patients, which can serve as baseline information for further research on genetic alteration that occurs during brain tumor progression in the Malaysian population.


Asunto(s)
Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Proteínas Proto-Oncogénicas B-raf/genética , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Malasia , Masculino , Persona de Mediana Edad , Mutación Missense , Adulto Joven
3.
Med J Malaysia ; 75(6): 666-671, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33219175

RESUMEN

INTRODUCTION: Chiari malformation (CM) is a disorder of mesodermal origin and is commonly associated with syringomyelia. Foramen magnum decompression is the first-line of standard treatment in symptomatic patients with a confirmed radiographic diagnosis. Magnetic resonance (MR) cine allows accurate evaluation of cerebrospinal fluid (CSF) physiology at the craniovertebral junction but often this is under-utilised in Malaysia. METHODS: In this series, we looked into nine cases of CM with syringomyelia from clinical and radiological perspective before and after surgery. The radiological parameters were herniated tonsillar length, syrinx: cord ratio, syrinx length and diameter. Flow velocity and morphologic changes in Chiari were illustrated. RESULTS: Seven patients showed either reduction in syrinx length, syrinx: cord ratio or both postoperatively. Clinical recovery somewhat varied in motor and sensory symptoms. Four patients gained better functional grade in modified Rankin scale (MRS) while the rest remained similar. The study highlighted the advantage of CSF flow dynamics information over MR anatomical radiographic improvement in addressing the neurologic and functional recovery. We also discussed the practicality of cine sequence in preoperative patient selection, syrinx analysis and postoperative flow evaluation in anticipation of clinical outcome. CONCLUSION: Phase-contrast cine MRI is a useful tool dictated by resource availability. We recommend its routine use in preoperative analysis and subsequent observational follow-up after surgery.


Asunto(s)
Malformación de Arnold-Chiari , Siringomielia , Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/diagnóstico por imagen , Malformación de Arnold-Chiari/cirugía , Descompresión Quirúrgica , Foramen Magno/diagnóstico por imagen , Foramen Magno/cirugía , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Siringomielia/complicaciones , Siringomielia/diagnóstico por imagen , Siringomielia/cirugía , Resultado del Tratamiento
4.
Genome Announc ; 4(3)2016 May 19.
Artículo en Inglés | MEDLINE | ID: mdl-27198011

RESUMEN

Mycobacterium tuberculosis is known to cause pulmonary and extrapulmonary tuberculosis. This organism showed special phylogeographical specificity. Here, we report the complete genome sequence of M. tuberculosis clinical isolate spoligotype SIT745/EAI1-MYS, which was isolated from a Malaysian tuberculosis patient.

5.
Med J Malaysia ; 69(2): 86-8, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25241818

RESUMEN

Subtentorial subdural empyema is a rare and life threatening intracranial suppuration. It is usually an intracranial complication of otogenic infections. Early diagnosis and surgical drainage are the most important factors determining prognosis. The high mortality reported in the literature reflects the severity of subtentorial subdural empyema if proper management is delayed. Intracranial infections usually require between 4 to 6 weeks of intravenous antibiotics therapy. However, the prolonged duration of hospitalization as well as requirement for neurosurgically inserted indwelling devices may predispose these patients to new nosocomial infections.

6.
Anat Histol Embryol ; 42(4): 257-65, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22994540

RESUMEN

Bioassay and immunohistochemical studies have detected the presence of prosaposin in the central nervous system (CNS) of mammals. Here, first time, we have determined the partial cDNA sequence of pigeon prosaposin and mapped the distribution of its mRNA in the pigeon CNS. The predicted amino acid sequence of pigeon prosaposin showed 93 and 60% identity to chicken and human prosaposin, respectively. In situ hybridization, autoradiograms showed that the prosaposin mRNA expression was found in the olfactory bulb, prepiriform cortex, Wulst, mesopallium, nidopallium, hippocampal formation, thalamus, tuberis nucleus, pre-tectal nucleus, nucleus mesencephalicus lateralis, pars dorsalis, nucleus isthmi, pars parvocellularis and magnocellularis, Edinger-Westphal nucleus, optic tectum, cerebellar cortex and nuclei, vestibular nuclei and gray matter of the spinal cord. These results suggest that the cDNA sequence of pigeon prosaposin is comparable to other vertebrates, and the general distribution pattern of prosaposin mRNA resembles those are found in mammals.


Asunto(s)
Sistema Nervioso Central/fisiología , Columbidae/metabolismo , Regulación de la Expresión Génica/fisiología , Saposinas/metabolismo , Secuencia de Aminoácidos , Animales , ADN Complementario , Femenino , Masculino , Datos de Secuencia Molecular , Filogenia , Saposinas/genética
8.
Minim Invasive Neurosurg ; 54(3): 125-7, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21863520

RESUMEN

BACKGROUND: Shunt surgery is frequently chosen to manage periventricular metastasis of pineal region tumours which obscured the floor of the third ventricle. However, this procedure falls short due to distant metastasis. Neuronavigation-guided endoscopic surgery offers a viable alternative. PATIENT: A 17-year-old man became symptomatic from widespread periventricular metastasis of a pineal region tumour which completely obscured the floor of the third ventricle. RESULTS: Endoscopic tumour biopsy followed by neuronavigation-guided endoscopic third ventriculotomy was performed successfully. CONCLUSION: This case report emphasizes the value of neuronavigation-guided endoscopic third ventriculostomy as a feasible surgical alternative for pineal region tumours with widespread periventricular metastasis that obscure the third ventricular floor.


Asunto(s)
Neoplasias del Ventrículo Cerebral/cirugía , Germinoma/cirugía , Neuroendoscopía/métodos , Neuronavegación/métodos , Pinealoma/cirugía , Tercer Ventrículo/cirugía , Adolescente , Neoplasias del Ventrículo Cerebral/diagnóstico por imagen , Neoplasias del Ventrículo Cerebral/secundario , Germinoma/diagnóstico por imagen , Germinoma/secundario , Humanos , Masculino , Neuroendoscopía/instrumentación , Neuronavegación/instrumentación , Pinealoma/diagnóstico por imagen , Pinealoma/patología , Radiografía , Tercer Ventrículo/patología , Resultado del Tratamiento
9.
J Clin Neurosci ; 16(12): 1567-71, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19793660

RESUMEN

We studied the efficacy of two surgical methods used for the treatment of intracranial subdural empyema (ISDE) at our centre. A cross-sectional study (1999-2005) of 90 patients with non-traumatic supratentorial ISDE revealed that the two surgical methods used for empyema removal were burr hole/s and drainage (50 patients, 55.6%) and a cranial bone opening procedure (CBOP) (40 patients, 44.4%). Patients in the CBOP group had a better result in terms of clinical improvement (chi-squared analysis, p=0.006) and clearance of empyema on brain CT scan (chi-squared analysis, p<0.001). Reoperation was more frequent among patients who had undergone burr hole surgery (multiple logistic regression, p<0.001). The outcome and morbidity of ISDE survivors were not related to the surgical method used (p>0.05). The only factor that significantly affected the morbidity of ISDE was level of consciousness at the time of surgery (multiple logistic regression, p<0.001). We conclude that CBOP and evacuation of the empyema is a better surgical method for ISDE than burr hole/s and drainage. Wide cranial opening and empyema evacuation improves neurological status, gives better clearance of the empyema and reduces the need for reoperation. Level of consciousness at the time of presentation is a predictor of the morbidity of ISDE. Thus, aggressive surgical treatment should occur as early as possible, before the patient deteriorates.


Asunto(s)
Craneotomía/métodos , Drenaje/métodos , Empiema Subdural/cirugía , Trepanación/métodos , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto Joven
10.
Neurol Res ; 31(1): 3-10, 2009 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18937888

RESUMEN

INTRODUCTION: Newcastle disease virus (NDV) is a virus of paramyxovirus family and lately has been studied for the treatment of cancer in human. In this study, we successfully determined the oncolysis potential of NDV vaccine, V4UPM tested on the human glioblastoma multiform cell line (DBTRG.05MG) and human glioblastoma astrocytoma cell line (U-87MG) in vitro and in vivo. The V4UPM strain is a modified V4 strain developed as thermostable feed pellet vaccine for poultry. OBJECTIVE: The objectives of this study were mainly to evaluate the cytolytic effect and subsequently determine the brain tumor regression potential induced by this strain in athymic mice model. METHODOLOGY AND RESULTS: V4UPM, the avirulent strain of NDV, was propagate and screened for the cytolytic activity towards DBTRG.05MG and U-87MG using MTT assay. The inhibition concentration 50% (IC(50)) values by monolayer method measured at hour 72 were 23 and 9 HAU/ml, respectively. Further study was carried out to observe an apoptosis of the infected cells by AO/PI staining and revealed the apoptosis features of the treated cells. Subcutaneous human brain tumors grown on the nude mice were treated by V4UPM at IC(80) and complete regression of U-87MG-bearing tumor mice was observed. TUNEL assay analysis of treated tumor tissues from treated mice showed an occurrence of apoptosis. CONCLUSION: From this study, NDV strain V4UPM inhibits the proliferation of experimental human gliomas in tissue culture and IC(80) at 520 HAU V4UPM gives potent effect to induced tumor regression and apoptosis in malignant gliomas.


Asunto(s)
Antineoplásicos/uso terapéutico , Glioma/virología , Viroterapia Oncolítica/métodos , Animales , Apoptosis/fisiología , Glioma/terapia , Humanos , Etiquetado Corte-Fin in Situ , Ratones , Ratones Desnudos , Virus de la Enfermedad de Newcastle , Virus Oncolíticos , Ensayos Antitumor por Modelo de Xenoinjerto
11.
Singapore Med J ; 49(7): e192-4, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18695856

RESUMEN

Recurrent supratentorial extraventricular ependymoma in a four-year-old Malay boy treated twice surgically in combination with cranial radiotherapy is reported. He presented with symptoms of raised intracranial pressure and a history of focal seizure. Computed tomography of the brain showed a left supratentorial extraventricular cystic lesion causing a mass effect. The tumour histology was ependymoma (WHO grade II). The clinical course, radiological characteristics and management of this tumour are discussed. Molecular genetic analysis of p53 and p27 genes revealed substitution of nucleotide G to C at location nucleotide 12139, exon 4 of gene p53. No alteration was detected at exon 5-6 and 8 of p53 gene and exon 1 and 2 of p27 gene.


Asunto(s)
Ependimoma/genética , Ependimoma/radioterapia , Genes p53 , Mutación , Secuencia de Bases , Preescolar , Cromatografía/métodos , Inhibidor p27 de las Quinasas Dependientes de la Ciclina/genética , Exones , Humanos , Masculino , Modelos Genéticos , Datos de Secuencia Molecular , Tomografía Computarizada por Rayos X/métodos
12.
Med J Malaysia ; 61(2): 229-32, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16898318

RESUMEN

Third ventricular cavernous angiomas are rare vascular malformations of the brain. We report an eight-year old boy with a rare third ventricular cavernous angioma that hemorrhaged presenting with symptoms of acute hydrocephalus. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) showed a heterogenous ill-defined, solid and cystic intraventricular mass in the third ventricle which was mildly enhanced with contrast and there was associated hydrocephalus. The mass was removed with success and follow up after two years revealed no neurological abnormalities.


Asunto(s)
Neoplasias del Sistema Nervioso Central/diagnóstico , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico , Tercer Ventrículo , Neoplasias del Sistema Nervioso Central/cirugía , Niño , Diagnóstico Diferencial , Estudios de Seguimiento , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X
13.
Singapore Med J ; 47(3): 194-7, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16518552

RESUMEN

INTRODUCTION: Computed tomography (CT) perfusion is a new method to diagnose ischaemic stroke especially in developing countries. It identifies the area and is useful to predict the size of final infarction. The aim of this study was to assess cerebral ischaemia with CT perfusion (CTP) among patients with acute ischaemic stroke in Hospital Universiti Sains Malaysia, a tertiary referral centre in a rural setting. METHODS: 42 consecutive unenhanced CT and CTP examinations of the brain in adult patients were evaluated prospectively. Unenhanced CT images were divided into normal, suspicious or frank infarction. CTP images was classified as normal or ischaemic. Subgroup analysis was carried out with a limit of six hours from time of ictus. RESULTS: Out of 42 patients, 20 had frank infarction on unenhanced CT, 15 had suspicious CT studies, while seven were normal. There was no significant association of demographical, clinical and radiological parameters to CTP in the whole group among acute stroke patients without frank infarction. Among the subgroup of patients without frank infarction, there was no significant association between unenhanced CT and CTP in patients who were studied less than six hours after stroke (p-value is 0.063) as well as those after six hours (p-value is 0.317). The prevalence of a normal unenhanced CT and positive CTP for ischaemia was 22.7 percent (95 percent confidence interval 7.8, 45.4). CONCLUSION: CTP may be a useful imaging tool for determining cerebral infarction in a rural-based community population, especially in cases where the unenhanced CT is normal. Thrombolysis is a therapeutic option, even when the history of onset of stroke is unclear.


Asunto(s)
Isquemia Encefálica/diagnóstico , Hospitales Rurales , Perfusión , Accidente Cerebrovascular/diagnóstico , Tomografía Computarizada de Emisión , Enfermedad Aguda , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/diagnóstico por imagen , Femenino , Humanos , Malasia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Tomografía Computarizada por Rayos X
14.
Med J Malaysia ; 61(5): 621-5, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17623965

RESUMEN

Precision Radiotherapy at high doses require a fixed, referable target point. The frame system fulfills the required criteria by making the target point relocatable and fixed within a stereotactic space. Since December 2001, we have treated 28 central and peripheral nervous system lesions using either radiosurgery as a single high dose fraction or fractionated 3-dimensional conformal radiotherapy using a lower dose and a multi-leaf collimator. Various pathological lesions either benign or malignant were treated. Eighty six percent of our treated lesions showed growth restraint, preventing them from causing new symptoms with a median follow-up duration of 20.5 months. However, the true benefit from this technique would require a long-term follow-up to document the progress.


Asunto(s)
Neoplasias Encefálicas/radioterapia , Neoplasias de Cabeza y Cuello/radioterapia , Malformaciones Arteriovenosas Intracraneales/cirugía , Radiocirugia , Radioterapia Conformacional , Adolescente , Adulto , Anciano , Malformaciones Arteriovenosas/radioterapia , Malformaciones Arteriovenosas/cirugía , Femenino , Humanos , Malasia , Masculino , Meningioma/radioterapia , Meningioma/cirugía , Persona de Mediana Edad , Neuroma Acústico/radioterapia , Neuroma Acústico/cirugía , Estudios Prospectivos
15.
Artículo en Inglés | MEDLINE | ID: mdl-16124450

RESUMEN

Frequent loss of heterozygosity (LOH) and mutations of the tumor suppressor gene PTEN (phosphatase and tensin homologue deleted from chromosome 10) have been found in sporadic gliomas. The most documented regions of allelic losses include 9p21, 10q23-25 and 17p1 3 whereas PTEN aberrations are preferentially found in glioblastoma multiformes. This research aimed to detect the incidence of allelic losses on chromosomes 10q, 9p, 17p and 13q and mutations on exons 5, 6 and 8 of PTEN in malignant gliomas. Malignant glioma specimens obtained were classified histopathologically according to the WHO criteria. Each tumor was then subjected to polymerase chain reaction (PCR)-LOH analysis using microsatellite markers and single-stranded conformational polymorphism (SSCP) analysis. Twelve of 23 (52%) malignant glioma cases showed allelic losses whereas 7 of 23 (30%) samples showed aberrant band patterns and mutations of PTEN. Four of these cases showed LOH in 10q23 and mutations of PTEN. The data on LOH indicated the involvement of different genes in the genesis of glioma whereas mutations of PTEN indicated the role of PTEN tumor suppressor gene in the progression of glioma in Malay population.


Asunto(s)
Cromosomas Humanos 6-12 y X/genética , Glioma/genética , Pérdida de Heterocigocidad/genética , Fosfohidrolasa PTEN/genética , Adolescente , Adulto , Distribución por Edad , Alelos , Niño , Preescolar , Femenino , Genes Supresores de Tumor , Glioma/epidemiología , Humanos , Incidencia , Malasia/epidemiología , Masculino , Persona de Mediana Edad , Mutación/genética , Reacción en Cadena de la Polimerasa , Distribución por Sexo
16.
Singapore Med J ; 46(5): 219-23, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15858690

RESUMEN

INTRODUCTION: Paediatric minor head injuries (MHI) are just as common in both bigger and smaller towns in Malaysia. Urban-based MHI are due more to motor vehicular injuries compared to rural-based MHI which are mainly due to non-motor vehicular injuries. The main objectives of this study were to compare incidence of admitted patients to accident and emergency departments of hospitals in two different settings in Malaysia, namely: Ipoh (urban-based) and Kota Bharu (rural-based); and to correlate to demographical characteristics, types of accident, clinical signs and symptoms, radiological and computed tomography (CT) findings, management; and finally, to determine clinical predictors of intracranial injury in MHI. METHODS: A cross-sectional study of 153 paediatric patients aged 2-18 years who were admitted to the Ipoh Hospital, Perak and 112 patients of the same age group admitted to Hospital Universiti Sains Malaysia, Kelantan were included in this study. The study period was between 1 January 1998 and 31 December 2001. Data collection was done prospectively. Chi-square and independent t-tests were applied to compare characteristics of patients admitted to these two hospitals. Backward stepwise multiple logistic regression was applied to determine clinical predictors of intracranial injury. RESULTS: There were significant differences of age, race, types of accidents, clinical signs and symptoms, Glasgow coma scale (GCS), skull fracture and CT findings between two hospitals. Significant clinical predictors were headache (OR 20.8, 95 percent CI 3.9-25.2, p-value is less than 0.001), unequal pupils (OR 8.4, 95 percent CI 4.3-17.9, p-value is equal to 0.0413) and GCS score of 13 (OR =3.8, 95 percent CI 1.9-6.8, p-value is equal to 0.005). Skull fractures and intracranial injuries were more common in Kota Bharu due to children riding motorcycles without helmets than in Ipoh (p-value is less than 0.001). CONCLUSION: In the rural Malaysian community, both the police and physicians must be alerted to the fact that unhelmeted children riding motorcycles are more likely to sustain morbidity than those in urban areas. More aggressive traffic policing of the village roads should be done by the relevant authorities.


Asunto(s)
Accidentes/estadística & datos numéricos , Lesiones Encefálicas/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Accidentes/clasificación , Adolescente , Lesiones Encefálicas/clasificación , Niño , Preescolar , Estudios Transversales , Progresión de la Enfermedad , Femenino , Hospitales Rurales/estadística & datos numéricos , Hospitales Urbanos/estadística & datos numéricos , Humanos , Incidencia , Malasia/epidemiología , Masculino , Pronóstico , Estudios Prospectivos , Factores de Riesgo
17.
Singapore Med J ; 45(6): 286-8, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15181525

RESUMEN

Rhabdoid tumour is a rare childhood tumour with poor prognosis. We report a 13-month-old Malay girl suffering from this tumour that was located at the left fronto-temporo-parietal region of the brain. Computed tomography showed a large irregular enhancing mass that caused obstructive hydrocephalus. The tumour did not reduce in size after three operations and finally the patient succumbed to the disease four months after diagnosis.


Asunto(s)
Neoplasias Encefálicas/diagnóstico , Tumor Rabdoide/diagnóstico , Neoplasias Encefálicas/cirugía , Craneotomía , Resultado Fatal , Femenino , Humanos , Lactante , Reoperación , Tumor Rabdoide/cirugía , Tomografía Computarizada por Rayos X
18.
Med J Malaysia ; 59(4): 468-79, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15779579

RESUMEN

Loss of heterozygosity (LOH) on several loci and mutations on PTEN tumor suppressor gene (10q23.3) occur frequently in sporadic gliomas. We have performed polymerase chain reaction (PCR)-LOH analysis using microsatellite markers and single-stranded conformational polymorphism (SSCP) analysis to determine the incidence of allelic losses on chromosome 10q, 9p, 17p and 13q and mutations of exons 5, 6 and 8 of the PTEN gene in malignant gliomas. Twelve of 23 (52.2%) malignant glioma cases showed allelic losses whereas 7 of 23, (30.4%) samples showed aberrant band patterns and mutations of the PTEN gene. Four of these cases showed LOH on 10q23 and mutations of the PTEN gene. The data on LOH indicated the involvement of different genes in gliomagenesis whereas mutations of the PTEN gene indicated the role of PTEN tumor suppressor gene in the progression of glioma in Malay population.


Asunto(s)
Neoplasias Encefálicas/genética , Glioma/genética , Pérdida de Heterocigocidad , Mutación , Monoéster Fosfórico Hidrolasas/genética , Proteínas Supresoras de Tumor/genética , Humanos , Malasia , Repeticiones de Microsatélite , Fosfohidrolasa PTEN , Polimorfismo Conformacional Retorcido-Simple
19.
Med J Malaysia ; 59(4): 552-4, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15779595

RESUMEN

We report a case of a 6 month old baby boy who had congenital nasal encephalocele, repaired via the traditional staging procedure. The surgical techniques and procedures are described and discussed.


Asunto(s)
Cerebelo/anomalías , Encefalocele , Encefalocele/cirugía , Humanos , Lactante , Masculino , Nariz , Procedimientos Quirúrgicos Obstétricos/métodos
20.
Blood Cells Mol Dis ; 27(3): 667-76, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11482882

RESUMEN

Through differential screening of mouse hematopoietic stem cell (HSC) and progenitor-subtracted cDNA libraries we have identified a progenitor cell-specific transcript that represents a novel gene, named Hepp (hematopoietic progenitor protein). The mouse Hepp gene encodes a protein of 237 amino acids with no detectable known functional domains or motifs. Lack of invertebrate orthologs and a high degree of evolutionary conservation of the peptide sequence in vertebrate species (zebrafish, mouse, human) suggest that the Hepp gene could have conserved although as yet unknown function in vertebrates. Mouse Hepp shows a restricted expression pattern in adult tissues and is transcribed at a very low level in heart, lung, spleen, and thymus and at a higher level in muscle. During embryonic hematopoiesis Hepp is not expressed in mouse fetal liver HSC (Sca-1(+)c-kit(+)AA4.1(+)Lin(-) cells), but is abundantly transcribed in the population of hematopoietic progenitors (AA4.1(-) cells). Similarly, during adult hematopoiesis Hepp is not transcribed in the highly enriched population of bone marrow HSC (Rh-123(low)Sca-1(+)c-kit(+)Lin(-) cells), but its expression is upregulated as a greater heterogeneous population of bone marrow HSC (Lin(-)Sca-1(+) cells) differentiates into progenitors (Lin(-)Sca-1(-) cells) and more mature lymphoid and myeloid cell types. A restricted pattern of expression in adult tissues and preferential expression in both fetal and adult hematopoietic progenitors and mature blood cells suggest that Hepp could be involved in molecular regulation of HSC and progenitor cell lineage commitment and differentiation.


Asunto(s)
Células Sanguíneas/metabolismo , Proteínas de Ciclo Celular/genética , Clonación Molecular , Genes/genética , Células Madre Hematopoyéticas/metabolismo , Proteínas Musculares/genética , Animales , Secuencia de Bases , Médula Ósea/metabolismo , ADN Complementario/aislamiento & purificación , Ratones , Datos de Secuencia Molecular , Filogenia , ARN Mensajero/genética , ARN Mensajero/metabolismo , Alineación de Secuencia , Distribución Tisular
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