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3.
Med J Malaysia ; 78(6): 733-742, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38031214

RESUMO

INTRODUCTION: The incidence of acute kidney injury (AKI) among hospitalised patients has not been well studied in Malaysia. MATERIALS AND METHODS: We conducted a prospective, multicentre study in seven hospitals in West Malaysia. All the adults admitted in March 2017 fulfilling Kidney Disease Improving Global Outcomes (KDIGO) criteria for AKI were included. RESULTS: Of the 34,204 patients screened, 2,457 developed AKI (7.18%), 13.1% of which occurred in intensive care unit (ICU). There were 60.2% males with a mean age of 57.8 (±17.5) years. The most common comorbidities were hypertension (55.0%), diabetes (46.6%), ischaemic heart disease (15.1%) and chronic kidney disease (12.0%). The commonest causes of AKI were sepsis (41.7%), pre-renal (24.2%) and cardiorenal syndrome (10.8%). Nephrotoxin exposure was reported in 31%. At diagnosis, the proportion of AKI stages 1, 2 and 3 were 79.1%, 9.7%, 11.2%, respectively. Referral to nephrologists was reported in 16.5%. Dialysis was required in 176 (7.2%) patients and 55.6% were performed in the ICU. Acidosis (46.2%), uraemia (31.6%) and electrolyte disturbance (11.1%) were the commonest indications. Continuous renal replacement therapy (CRRT) was required in 14%. The average length of hospital stay was 9.5 days. In-hospital mortality was 16.4%. Among survivors, full and partial renal recovery was seen in 74.7% and 16.4% respectively while 8.9% failed to recover. After a mean follow-up of 13.7 months, 593 (30.2%) of survivors died and 38 (1.9%) initiated chronic dialysis. Mortality was highest among those with malignancies (Hazard Ratio, HR 2.14), chronic liver disease (HR 2.13), neurological disease (HR 1.56) and cardiovascular disease (HR 1.17). CONCLUSION: AKI is common in hospitalised patients and is with associated high mortality during and after hospitalisation.


Assuntos
Injúria Renal Aguda , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Incidência , Rim , Malásia/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Idoso
4.
Malays J Pathol ; 43(3): 453-456, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34958067

RESUMO

INTRODUCTION: Meningiomas are common and usually benign central nervous system neoplasms. These neoplasms are graded into three groups which differ in biological behaviour. Atypical meningioma is an intermediate grade (Grade 2) tumour that is rarely associated with metastases compared to higher grade (Grade 3) meningiomas. CASE REPORT: A 68-year-old lady with a history of multiple craniotomies and hemifacial resections for meningothelial meningioma currently underwent orbital exenteration, tumour debulking and cervical nodal excision for tumour recurrence. Histopathological examination of the tumour showed atypical meningioma, with cervical nodal metastasis. DISCUSSION: This case report presents a rare finding of lymph node metastasis associated with atypical meningioma. The previous history of surgical resection is a known risk factor for metastasis for low to intermediate grade meningioma. Tumour biology and histology are predictors of metastasis. Haematogenous dissemination is the commonest route of metastasis. No standardised management protocol has been developed and the prognosis remains unknown.


Assuntos
Neoplasias Encefálicas , Neoplasias Meníngeas , Meningioma , Idoso , Feminino , Humanos , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/cirurgia , Meningioma/patologia , Meningioma/secundário , Meningioma/cirurgia , Recidiva Local de Neoplasia , Prognóstico
5.
J Eur Acad Dermatol Venereol ; 35(7): 1460-1469, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33764577

RESUMO

Increasing evidence on the impact of the different wavelengths of sunlight on the skin demonstrates the need for tailored recommendations of sunscreen according to skin phototype and dermatoses, which is now possible due to advances in the filters and formulations of sunscreens. A selective literature search was performed by an international expert panel, focusing on the type of sunscreen to recommend for photoaging, skin cancers, photodermatoses, pigmentary disorders and skin inflammatory disorders. Protection against ultraviolet (UV)B is especially important for light skin as there is a high risk of sunburn, DNA damage and skin cancers. Darker skin may be naturally better protected against UVB but is more prone to hyperpigmentation induced by visible light (VL) and UVA. Protection against UVA, VL and infrared A can be helpful for all skin phototypes as they penetrate deeply and cause photoaging. Long-wave UVA1 plays a critical role in pigmentation, photoaging, skin cancer, DNA damage and photodermatoses. Adapting the formulation and texture of the sunscreen to the type of skin and dermatoses is also essential. Practical recommendations on the type of sunscreen to prescribe are provided to support the clinician in daily practice.


Assuntos
Neoplasias Cutâneas , Queimadura Solar , Humanos , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/prevenção & controle , Luz Solar , Protetores Solares/uso terapêutico , Raios Ultravioleta/efeitos adversos
6.
Med J Malaysia ; 75(6): 666-671, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33219175

RESUMO

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.


Assuntos
Malformação de Arnold-Chiari , Siringomielia , Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/cirurgia , Descompressão Cirúrgica , Forame Magno/diagnóstico por imagem , Forame Magno/cirurgia , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Siringomielia/complicações , Siringomielia/diagnóstico por imagem , Siringomielia/cirurgia , Resultado do Tratamento
7.
Gynecol Oncol Rep ; 32: 100538, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32090165

RESUMO

Introduction Dedifferentiated endometrioid adenocarcinoma (DEAC) was first described in 2007. However, it has only been recognised as a distinct subtype of endometrioid adenocarcinoma in the last 1-2 years. DEAC is a more aggressive histological subtype and carries a poorer prognosis. Patients with DEAC tend to present with advanced disease compared the other endometrioid adenocarcinomas. Methodology The study is a retrospective review of patients with DEAC diagnosed in two institutions in Singapore between January 2012 and October 2017. Results 7 patients were diagnosed with DEAC. The mean age was 56.4 years. All patients presented with either abnormal uterine bleeding or post menopausal bleeding. Out of the 7 patients, one was diagnosed with Stage 2 disease, 5 were diagnosed with Stage 3 disease and 1 was diagnosed with Stage 4 disease. One patient had neoadjuvant chemotherapy, followed by surgery, and completion chemotherapy post surgery. The other 6 patients (87.5%) underwent primary debulking surgery. Out of these 6 patients, 5 patients had adjuvant chemotherapy post surgery and one patient had both adjuvant chemotherapy and radiotherapy. Lymphovascular invasion was found in 71.4% of the cases. Conclusion DEAC is a more aggressive histological subtype of endometrioid adenocarcinomas. Better awareness of this condition can lead to proper diagnosis and treatment.

8.
Acta Virol ; 63(4): 373-379, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31802680

RESUMO

Betaflexiviridae is a family of plant-infecting RNA viruses with 11 recognized genera, of which genomes have diverse organization with three to six open reading frames (ORFs). A genome sequence of a novel Betaflexiviridae species, named Salvia divinorum RNA virus 1 (SdRV1), was identified in Salvia divinorum, herbal mint plant with hallucinogenic properties. The SdRV1 genome was predicted to have four ORFs encoding a replicase polyprotein (REP), a movement protein (MP), a coat protein (CP), and a putative nucleic acid-binding protein (NBP). Phylogenetic analyses based on the REP, MP, and CP sequences indicated that SdRV1 is most closely related to members of the genus Citrivirus. However, the genome organization of SdRV1 is the same as that of the genus Prunevirus. Moreover, the SdRV1 NBP had greatest sequence similarity with members of the genus Carlavirus. A complex evolutionary history involving ancestors of these three genera might have resulted in the unique phylogenetic position of SdRV1, which could be considered the founding member of a new genus in the family Betaflexiviridae. The genome sequence of SdRV1 might be useful for studies on the evolution of Betaflexiviridae. Keywords: Salvia divinorum RNA virus 1; Betaflexiviridae; Salvia divinorum.


Assuntos
Flexiviridae , Salvia , Flexiviridae/classificação , Flexiviridae/genética , Genoma Viral/genética , Fases de Leitura Aberta , Filogenia , Salvia/virologia
9.
Med J Malaysia ; 74(6): 499-503, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31929475

RESUMO

INTRODUCTION: Carpal tunnel syndrome (CTS) is the commonest median nerve entrapment neuropathy of the hand, up to 90% of all nerve compression syndromes. The disease is often treated with conservative measures or surgery. The senior author initially intended to treat his own neurosurgical patients concurrently diagnosed with carpal tunnel syndrome in 2014, subsequently, he began to pick up more referrals from the primary healthcare group over the years. This has led to the setup of a peripheral and spine clinic to act as a hub of referrals. OBJECTIVE: Department of Neurosurgery Sarawak aimed to evaluate the surgical outcome of carpal tunnel release done over five years. METHODS: The carpal tunnel surgeries were done under local anaesthesia (LA) given by neurosurgeons (Bupivacaine 0.5% or Lignocaine 2%). Monitored anaesthesia care (MAC) was later introduced by our hospital neuroanaesthetist in the beginning of 2018 (Target-controlled infusion propofol and boluses of fentanyl). We looked into our first 17 cases and compared these to the two anaesthesia techniques (LA versus MAC + LA) in terms of patient's pain score based on visual analogue scale (VAS). RESULTS: Result showed MAC provided excellent pain control during and immediately after the surgery. None experienced anaesthesia complications. There was no difference in pain control at post-operation one month. Both techniques had equal good clinical outcome during patients' clinic follow up. CONCLUSION: Neurosurgeons provide alternative route for CTS patients to receive surgical treatment. Being a designated pain free hospital, anaesthetist collaboration in carpal tunnel surgery is an added value and improves patients overall experience and satisfaction.


Assuntos
Anestesia Local/métodos , Síndrome do Túnel Carpal/cirurgia , Neurocirurgiões , Procedimentos Neurocirúrgicos/métodos , Manejo da Dor/métodos , Adulto , Síndrome do Túnel Carpal/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do Tratamento
10.
Int J Oral Maxillofac Surg ; 48(5): 576-583, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30594479

RESUMO

Bone invasion by oral squamous cell carcinoma necessitates jaw resection, with preoperative imaging ideally able to guide the resection. A retrospective review of 109 patients with oral squamous cell carcinoma who underwent mandibular resection was performed. Eighty-three had preoperative computed tomography (CT) imaging and 72 underwent magnetic resonance imaging (MRI). The presence of bone invasion on imaging was compared to histopathology. Bone invasion was detected in 44 of 109 resection specimens (40.4%) and was identified on CT in 31 of 83 cases (37.4%) and on MRI in 35 of 72 cases (48.6%). The sensitivity and specificity of CT for detecting bone invasion was 69.0% and 79.6%, respectively, while for MRI was 87.1% and 80.5%, respectively. Histological detection of bone invasion was associated with greater disease-specific mortality (P=0.002), as was MRI detection of bone invasion (P=0.027). CT detection was not significant (P=0.240). Negative prediction of bone invasion was 95% accurate for both modalities in clinically non-invaded mandibles. Survival was reduced in patients who underwent marginal mandibular resection when bone invasion was detected histologically (33.3% vs. 70.5%, P=0.277) and with CT, although this was not statistically significant. More data are required to determine whether more aggressive resection is warranted when bone invasion is detected preoperatively.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Mandibulares , Neoplasias Bucais , Humanos , Imageamento por Ressonância Magnética , Mandíbula , Invasividade Neoplásica , Estudos Retrospectivos , Sensibilidade e Especificidade
11.
Gynecol Oncol Rep ; 25: 27-29, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29977987

RESUMO

•A young lady with uterine sarcoma had a successful delivery 3 years after diagnosis.•Local recurrence occurred after 8 years.•Ultrasound and endometrial biopsy can be used in the follow-up of these patients.•Patients should be counselled on risk of late recurrence.

13.
J Plast Reconstr Aesthet Surg ; 70(10): 1369-1376, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28602267

RESUMO

BACKGROUND: Approximately one-third of women diagnosed with breast cancer undergo mastectomy with subsequent implant-based or autogenous tissue-based reconstruction. Potential complications include infection, capsular contracture, and leak or rupture of implants with necessity for explantation. Skin rashes are infrequently described complications of patients who undergo mastectomy with or without reconstruction. METHODS: A retrospective analysis of breast cancer patients referred to the Dermatology Service for diagnosis and management of a rash post-mastectomy and expander or implant placement or transverse rectus abdominis myocutaneous (TRAM) flap reconstruction was performed. Parameters studied included reconstruction types, time to onset, clinical presentation, associated symptoms, results of microbiologic studies, management, and outcome. RESULTS: We describe 21 patients who developed a rash on the skin overlying a breast reconstruction. Average time to onset was 25.7 months after expander placement or TRAM flap reconstruction. Clinical presentations included macules and papules or scaly, erythematous patches and plaques. Five patients had cultures of the rash, which were all negative. Skin biopsy was relatively contraindicated in areas of skin tension, and was reserved for non-responding eruptions. Treatments included topical corticosteroids and topical antibiotics, which resulted in complete or partial responses in all patients with documented follow-ups. CONCLUSION: Our findings suggest that tension and post-surgical factors play a causal role in this hitherto undescribed entity: "post-reconstruction dermatitis of the breast." This is a manageable condition that develops weeks to years following breast reconstruction. Topical corticosteroids and antibiotics result in restoration of skin barrier integrity and decreased secondary infection.


Assuntos
Antibacterianos/administração & dosagem , Implante Mamário/efeitos adversos , Glucocorticoides/administração & dosagem , Mamoplastia , Complicações Pós-Operatórias , Retalhos Cirúrgicos/efeitos adversos , Administração Tópica , Adulto , Neoplasias da Mama/cirurgia , Dermatite/diagnóstico , Dermatite/tratamento farmacológico , Dermatite/etiologia , Feminino , Humanos , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Mastectomia/métodos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/tratamento farmacológico , Estudos Retrospectivos , Resultado do Tratamento , Estados Unidos
14.
Med J Malaysia ; 72(6): 356-359, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29308773

RESUMO

PURPOSE: To evaluate postoperative visual acuity, refractive status and rotational stability of toric intraocular lens (IOL) in correcting pre-existing corneal astigmatism. METHODS: A total of 69 patients with topographic corneal astigmatism of 1.0 Diopter (D) and above who underwent cataract surgery between June 2015 and December 2016 were included in this retrospective observational study. All preoperative toric IOL calculations were performed using immersion biometry. Appropriate formula to calculate toric IOL power was applied (SRK/T, Holladay 1 or Hoffer Q formula). All patients undergone similar uncomplicated phacoemulsification with implantation of AcrySoft IQ SN6AT toric IOL of different powers. Visual outcome, refractive status and axis of lens were evaluated at six weeks postoperatively. Ethical approval from the Ministry of Health Medical Research Ethics Committee was obtained prior to commencement of study. RESULTS: The mean refractive astigmatism decreased from 1.69 D ±1.10 (SD) to 0.81 D ± 0.40 (SD) at six weeks postoperatively. The mean postoperative spherical equivalent was at -0.37 D ±0.64 (SD). Mean LogMAR for uncorrected and corrected distance visual acuity in six weeks postoperative patients was at 0.29 ±0.16 (SD) and 0.12 ±0.12 (SD) respectively. Intraoperative to 6 weeks of postoperative comparison of IOL axis alignment showed low levels of rotation (mean 3.21 ±2.52 degrees). CONCLUSION: Cataract surgery with implantation of toric IOL was stable and effective in improving pre-existing regular corneal astigmatism.


Assuntos
Implante de Lente Intraocular , Avaliação de Resultados em Cuidados de Saúde , Adulto , Idoso , Idoso de 80 Anos ou mais , Astigmatismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Acuidade Visual
15.
J Eur Acad Dermatol Venereol ; 30(10): 1790-1793, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27400809

RESUMO

INTRODUCTION: Acne vulgaris commonly affects adolescents. But recent reports suggest a rising prevalence of post-adolescence acne. While there are few reports on post-adolescence acne, there are even fewer reports comparing adolescence acne and post-adolescence. METHODS: Epidemiological data of adolescence (<25 years) and post-adolescence (≥25 years) acne patients diagnosed between 2004 and 2013 in a tertiary dermatology referral centre was analysed. From the pool of patients seen in 2010, 80 adolescence and 84 post-adolescence acne patients' epidemiological characteristics and treatment responses were analysed. RESULTS: During the 10-year study period, there was an increase in the number and proportion of acne cases. In 2004, 4447 (5.77%) of all new diagnoses made were of acne vulgaris. The proportion rose to 5723 (8.13%) in 2013. There were consistently more female than male acne patients. The proportion of post-adolescent cases remained constant at about 30% of all acne patients seen. Mean age of acne vulgaris patients decreased from 23.1 years in 2004 to 22.6 years in 2013. In the subgroup analysis, there were more males than females with adolescence acne (61.3% vs. 38.8%, P < 0.01) and more females with post-adolescence acne (69.0% vs. 31.0%, P < 0.01). Thirty-four (40.5%) post-adolescence acne patients had acne from adolescence persisting into adulthood. Comedonal acne was more prevalent in the adolescence acne patients (58.8% vs. 40.5%, P = 0.019), whereas cystic acne was more prevalent in post-adolescence patients (18.1% vs. 7.5%, P = 0.044). Systemic retinoids were more often used for treatment in the adolescence acne patients than post-adolescence acne patients (23.8% vs. 10.7%, P = 0.027). CONCLUSION: Acne predominantly affects adolescents but post-adolescence acne is not uncommon. For post-adolescence acne, females predominate over males. Inflammatory and cystic acne tends to be more predominant in post-adolescence acne patients, whereas comedonal acne is more often seen in adolescence acne patients.


Assuntos
Acne Vulgar/epidemiologia , Adulto , Feminino , Humanos , Masculino , Estudos Retrospectivos , Singapura/epidemiologia , Adulto Jovem
16.
Hand Surg ; 20(1): 73-80, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25609278

RESUMO

BACKGROUND: The biomechanical interaction between the median nerve and the flexor tendons is an important consideration in Carpal tunnel syndrome (CTS). We aim to quantify the displacement and compressive deformation pattern of the median nerve in various stages of finger flexion in the normal population at the inlet of the carpal tunnel. METHODS: Transverse ultrasounds images were taken at the carpal tunnel inlet during full-extension, mid-flexion and full flexion. The displacement, distance, Feret's diameter, and perimeter of the median nerve were calculated and compared between each position. RESULTS: Biphasic median nerve motion was observed, with a displacement of 2.84 ± 3.49 mm in the ulnar direction from full-extension to mid-flexion (Phase I) and a further 0.93 ± 3.04 mm from mid-flexion to full flexion (Phase II). Of 49 hands, 37 (75.5%) exhibited ulnar displacement in Phase I while 12 (24.5%) exhibited radial displacement. Feret's diameter (5.95 ± 1.08 mm) and perimeter (13.28 ± 2.09) of the median nerve were greatest in the mid-flexed position. CONCLUSION: In a healthy Asian population, the median nerve has a biphasic motion during finger flexion, with maximal deformation in the mid-flexed position.


Assuntos
Nervo Mediano/diagnóstico por imagem , Nervo Mediano/fisiologia , Tendões/diagnóstico por imagem , Tendões/fisiologia , Fenômenos Biomecânicos , Síndrome do Túnel Carpal/fisiopatologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Amplitude de Movimento Articular/fisiologia , Ultrassonografia , Adulto Jovem
17.
Med J Malaysia ; 69 Suppl A: 4-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25417946

RESUMO

This article describes the methodology of this bibliography. A search was conducted on the following: (1) bibliographic databases (PubMed, Scopus, and other databases) using search terms that maximize the retrieval of Malaysian publications; (2) Individual journal search of Malaysian healthrelated journals; (3) A targeted search of Google and Google Scholar; (4) Searching of Malaysian institutional repositories; (5) Searching of Ministry of Health and Clinical Research Centre website. The publication years were limited to 2000- 2013. The citations were imported or manually entered into bibliographic software Refworks. After removing duplicates, and correcting data entry errors, PubMed's Medical Subject Headings (MeSH terms) were added. Clinical research is coded using the definition "patient-oriented-research or research conducted with human subjects (or on material of human origin) for which the investigator directly interacts with the human subjects at some point during the study." A bibliography of citations [n=2056] that fit the criteria of clinical research in Malaysia in selected topics within five domains was generated: Cancers [589], Cardiovascular diseases [432], Infections [795], Injuries [142], and Mental Health [582]. This is done by retrieving citations with the appropriate MESH terms, as follow: For cancers (Breast Neoplasms; Colorectal Neoplasms; Uterine Cervical Neoplasms), for cardiovascular diseases (Coronary Disease; Hypertension; Stroke), for infections (Dengue; Enterovirus Infections, HIV Infections; Malaria; Nipah Virus; Tuberculosis), for injuries (Accidents, Occupational; Accidents, Traffic; Child Abuse; Occupational Injuries), for mental health (Depression; Depressive Disorder; Depressive Disorder, Major; Drug Users; Psychotic Disorders; Suicide; Suicide, Attempted; Suicidal Ideation; Substance- Related Disorders).

18.
Br J Cancer ; 110(6): 1663-72, 2014 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-24556621

RESUMO

BACKGROUND: Prostate cancer (PrCa) is one of the most common diseases to affect men worldwide and among the leading causes of cancer-related death. The purpose of this study was to use second-generation sequencing technology to assess the frequency of deleterious mutations in 22 tumour suppressor genes in familial PrCa and estimate the relative risk of PrCa if these genes are mutated. METHODS: Germline DNA samples from 191 men with 3 or more cases of PrCa in their family were sequenced for 22 tumour suppressor genes using Agilent target enrichment and Illumina technology. Analysis for genetic variation was carried out by using a pipeline consisting of BWA, Genome Analysis Toolkit (GATK) and ANNOVAR. Clinical features were correlated with mutation status using standard statistical tests. Modified segregation analysis was used to determine the relative risk of PrCa conferred by the putative loss-of-function (LoF) mutations identified. RESULTS: We discovered 14 putative LoF mutations in 191 samples (7.3%) and these mutations were more frequently associated with nodal involvement, metastasis or T4 tumour stage (P=0.00164). Segregation analysis of probands with European ancestry estimated that LoF mutations in any of the studied genes confer a relative risk of PrCa of 1.94 (95% CI: 1.56-2.42). CONCLUSIONS: These findings show that LoF mutations in DNA repair pathway genes predispose to familial PrCa and advanced disease and therefore warrants further investigation. The clinical utility of these findings will become increasingly important as targeted screening and therapies become more widespread.


Assuntos
Reparo do DNA , Mutação em Linhagem Germinativa , Neoplasias da Próstata/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Risco
19.
Colorectal Dis ; 16(4): 271-5, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24308442

RESUMO

AIM: A proportion of colonic polyps is not amenable to exclusively colonoscopic removal due to their location, size or tortuosity of the colon. A combined laparoscopic/colonoscopic polypectomy or endolaparoscopic polypectomy (ELP) is an alternative to formal segmental resection. We present our experience of ELP. METHOD: This is a retrospective review of a consecutive series of patients who underwent ELP for preoperatively diagnosed benign polyps between 2010 and 2013. Data are presented as median (interquartile range, IQR). RESULTS: Thirty patients commenced ELP. Eighteen were male and the median (IQR) age was 65.4 (61.6-73.5) years. Of 30 attempted cases, 22 (73%) underwent successful ELP surgery. Patients in whom combined ELP surgery was unsuccessful were converted to laparoscopic colectomy (one) or colonic mobilization and colotomy (seven). The median operation time for successful ELP was 105 (75-125) min. The complication rate was 13.3% and the median length of stay was 2.0 (1.0-3.0) days for successful ELP compared with 5.5 (3.5-6.8) days for converted patients (P = 0.014). The median polyp size was 14 (10-22) mm; eight (26.7%) had high-grade dysplasia with two cases of invasive cancer identified. CONCLUSION: A combined endoscopic-laparoscopic approach provides an alternative to segmental resection for treating challenging colonic polyps. This approach appears to be safe and effective and should be offered to selected patients with benign colonic polyps.


Assuntos
Adenoma Viloso/cirurgia , Pólipos Adenomatosos/cirurgia , Pólipos do Colo/cirurgia , Colonoscopia/métodos , Laparoscopia/métodos , Adenocarcinoma/cirurgia , Idoso , Estudos de Coortes , Neoplasias do Colo/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
20.
Med J Malaysia ; 69(6): 261-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25934956

RESUMO

This study reviewed the epidemiology of brain and spinal tumours in Sarawak from January 2009 till December 2012. The crude incidence of brain tumour in Sarawak was 4.6 per 100,000 population/year with cumulative rate 0.5%. Meningioma was the most common brain tumour (32.3%) and followed by astrocytoma (19.4%). Only brain metastases showed a rising trend and cases were doubled in 4 years. This accounted for 15.4% and lung carcinoma was the commonest primary. Others tumour load were consistent. Primitive neuroectodermal tumour (PNET) and astrocytoma were common in paediatrics (60%). We encountered more primary spinal tumour rather than spinal metastases. Intradural schwannoma was the commonest and frequently located at thoracic level. The current healthcare system in Sarawak enables a more consolidate data collection to reflect accurate brain tumours incidence. This advantage allows subsequent future survival outcome research and benchmarking for healthcare resource planning.

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