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BACKGROUND: Germline genetic testing is traditionally carried out in patients suspected with hereditary cancer syndrome for enhanced cancer surveillance and/or preventive strategies, but is increasingly carried out for therapeutic indications. MATERIALS AND METHODS: We conducted a retrospective review of patients who underwent germline genetic testing at our centre to determine the prevalence of actionable pathogenic germline variants (PGV) and their clinical utility. RESULTS: From 2000 to 2022, 1154 cancer patients underwent germline testing, with the majority (945/1154) tested with multi-gene panels. Four hundred and eleven (35.6%) patients harboured a PGV and 334 (81%) were clinically actionable. BRCA1/2 accounted for 62.3% of actionable mutations, followed by mismatch repair (18%), and other homologous recombination repair (HRR) genes (19.7%). One hundred and fifty-two germline-positive patients have advanced cancers, and 79 received germline-directed therapies (poly ADP ribose polymerase inhibitors = 75; immunotherapy = 4). Median duration of immunotherapy and poly ADP ribose polymerase were 20.5 months (range 5-40 months) and 8 months (range 1-76 months), respectively. Among BRCA/HRR mutation carriers who received platinum-based chemotherapy, pathological complete response rate in the neoadjuvant setting was 53% (n = 17 breast cancers) and objective response rate was >80% in the advanced setting (n = 71). CONCLUSIONS: One-third of cancer patients tested carried a PGV and â¼80% were clinically actionable. Three-quarters of germline-positive advanced cancer patients received germline-directed therapies in the real world, underscoring the practical utility of germline testing to guide cancer therapeutics.
Assuntos
Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Neoplasias , Humanos , Feminino , Estudos Retrospectivos , Masculino , Testes Genéticos/métodos , Adulto , Pessoa de Meia-Idade , Neoplasias/genética , Idoso , Adulto Jovem , Ásia/epidemiologia , Adolescente , Idoso de 80 Anos ou maisRESUMO
Dengue fever (DF) is an important public health problem, and it is now endemic in more than 100 countries worldwide. Dengue associated neurological complication is estimated to be affecting 0.5 to 6.2% of patients. Even though this is rare, neurological manifestation of DF is an increasingly recognized entity in recent years due to significant mortality and morbidity reported/seen. Reported central nervous system manifestations due to dengue include encephalitis, encephalopathy, myelitis, myositis, acute disseminated encephalomyelitis, Guillain-Barré syndrome, stroke and etc. We report here a case of acute necrotizing encephalopathy secondary to DF in a previously healthy 12-year-old girl.
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Dengue , Doenças do Sistema Nervoso , Acidente Vascular Cerebral , Criança , Dengue/complicações , Feminino , HumanosRESUMO
INTRODUCTION: Excessive ultraviolet light (UV) can cause premature skin aging and potentially skin cancer. Currently there is a lack of awareness among health care professionals and the public on sun protection. The objectives of this study were to determine knowledge on sunscreen and skin cancer among health care professionals, to evaluate the knowledge, attitude, practice and perception of doctors and pharmacists toward the usage of sunscreen as protection against UV radiation. MATERIALS AND METHODS: This is a cross-sectional study conducted among doctors and pharmacists in Hospital Sultanah Nora Ismail, Batu Pahat, Johor, Malaysia. Questionnaires were used in this study. RESULTS: A total of 384 participants completed the questionnaires. The participants consisted of 323 doctors (84.1%) and 61 pharmacists (15.9%). The age group of the participants ranged between 25 till 55 years old. Ninety doctors (27.9%) and thirty-one pharmacists (51.0%) reported used sunscreen daily (p<0.001). This finding showed that there was a deficit in the practice of sun protection. Pharmacists scored a higher knowledge score of median 12 (IQR=3.0) while the doctors scored 11 (IQR=2.0). This study showed a significant association between ethnicity and skin cancer knowledge (p<0.05). CONCLUSION: This study demonstrated a lack of knowledge of sunscreen and skin cancer prevention among health care practitioners. This finding supports better medical education program on this topic.
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Neoplasias Cutâneas , Protetores Solares , Adulto , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Percepção , Farmacêuticos , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/prevenção & controle , Protetores Solares/uso terapêutico , Inquéritos e QuestionáriosAssuntos
Dengue/complicações , Síndrome da Leucoencefalopatia Posterior/virologia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/virologia , Dengue/diagnóstico por imagem , Humanos , Masculino , Ilustração Médica , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Dengue fever is one of the commonest tropical disease in the tropics. It can present with mild acute febrile illness to severe organ failure. Reported neurological complications of dengue include dengue encephalopathy, encephalitis, transverse myelitis and intracranial haemorrhage. Intracranial haemorrhage in dengue can present as subdural haematoma, extradural haematoma, intracerebral haemorrhage and subarachnoid haemorrhage. We report here a case of subarachnoid haemorrhage in a patient with severe dengue. Our patient was a 30-year-old man who presented with acute febrile illness. He subsequently developed plasma leakage and upper gastrointestinal bleeding. He then had reduced conscious level. Computed tomography of his brain showed subarachnoid haemorrhage. He eventually succumbed to his illness.
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Dengue , Encefalite , Dengue Grave , Hemorragia Subaracnóidea , Adulto , Dengue/complicações , Febre , Hematoma Subdural , Humanos , Masculino , Dengue Grave/complicações , Dengue Grave/diagnóstico , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/etiologiaRESUMO
Hodgkin lymphoma is a form of malignant lymphoid neoplasm. It can have various clinical presentations such as prolonged fever, night sweats, weight loss and asymptomatic lymphadenopathy. It has a distinct fever pattern known as Pel Ebstein fever. However, in some instances, its clinical presentation can mimic some tropical infections. Here, we present a case of primary splenic lymphoma masquerading as splenic abscess in a 53-yearold man with underlying dyslipidemia.
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Doença de Hodgkin , Linfadenopatia , Linfoma , Esplenopatias , Abscesso/diagnóstico , Doença de Hodgkin/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Esplenopatias/diagnóstico por imagemRESUMO
Primary care providers should be alert to travel-related infections. Around 10-40% of returning travelers from all destinations and 15-70% of travelers from tropical settings experience ill health, either overseas or upon returning home.1 A systematic approach concentrating on possible infections should be undertaken based on the patient's travel location, immunization history, presence of malaria chemoprophylaxis at the destination, other potential exposures, incubation period, and clinical presentation.2-3 The World Health Organization (WHO) website is constantly being updated on specific travel-related infections and recent geographical outbreaks. In this paper, we report a case of severe falciparum malaria in a returned traveler.
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Stroke is a debilitating disease as it carries significant morbidity especially when it affects the younger population. There are various etiologies of young stroke, namely arterial dissection, cardioembolism, thrombophilia, inherited genetic disorder and vasculitis. Young patient with stroke should undergo complete evaluation to identify the underlying etiology in order to prevent recurrence of stroke. Here, we would like to illustrate a case of Takayasu arteritis presenting as young stroke in a 17-years-old lady with no known medical illness.
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Dissecção Aórtica , Acidente Vascular Cerebral , Arterite de Takayasu , Adolescente , Feminino , Humanos , Acidente Vascular Cerebral/etiologia , Arterite de Takayasu/complicações , Arterite de Takayasu/diagnósticoRESUMO
There are increasing reports of methanol poisoning (MP) incidence worldwide. In Malaysia, the largest first methanol poisoning was reported in Selangor in 2013 with a total of 41 patients and cluster of cases been reported from the country since then. Often MP involved adulterated alcohol containing more than the legal permissible concentration of methanol. Methanol is rapidly absorbed and metabolised into formic acid which causes variable symptoms of the central nervous system such as blindness, seizure, coma and gastrointestinal disturbances. Mortality could reach up to 83% as reported using the coma state, pH and pCO2 level in the worst-case scenario.
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Metanol/intoxicação , Intoxicação/fisiopatologia , Intoxicação/terapia , Adulto , Evolução Fatal , Hospitais de Distrito , Humanos , Malásia , Masculino , Resultado do TratamentoRESUMO
Malaria is a parasitic disease that is caused by the Plasmodium parasite. Worldwide, it remains a significant public health problem especially in the Africa region where it contributes to more than 90% of cases and malaria death. However, zoonotic (simian) Plasmodium knowlesi parasite is a widely prevalent cause of malaria in the South East Asian countries. It is known to cause severe human disease due to its 24hour erythrocytic cycles. Thus far, cases of severe falciparum malaria have been reported in asplenic patients. Here, we report a case of severe P.knowlesi malaria in a 51-year-old man who is a postsplenectomy patient.
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Malária/tratamento farmacológico , Plasmodium knowlesi/efeitos dos fármacos , Período Pós-Operatório , Esplenectomia , Sudeste Asiático , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited cardiomyopathy characterised by right ventricular dysfunction, ventricular arrhythmias and increased risk of sudden cardiac death. Due to the replacement of myocardium with fibro-fatty and fibrous tissue, patients with ARVC are prone to develop ventricular tachycardia. Histologically, it is often reported as the 'triangle of dysplasia' involving the inflow tract, outflow tract and apex of the right ventricle.2 We describe a 20-years-old patient who collapsed during a futsal match and was subsequently diagnosed to have ARVC with a right ventricular thrombus from cardiac magnetic resonance imaging.
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Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Trombose/diagnóstico por imagem , Disfunção Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/tratamento farmacológico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/cirurgia , Humanos , Masculino , Trombose/tratamento farmacológico , Resultado do Tratamento , Disfunção Ventricular Direita/cirurgia , Adulto JovemRESUMO
Mesenchymal chondrosarcoma is a malignant neoplasm arising from cartilaginous bone or soft tissue. It is uncommon yet devastating. Our patient was a 21-year-old man who presented with pleuritic chest pain and weight loss. His chest radiograph showed left pleural effusion. His pleural effusion analysis was consistent with exudative pleural effusion. Tuberculosis workup was negative. Pleural fluid cytology did not yield malignant cells. Subsequently, his computed tomography of thorax showed left rib sclerotic lesion with soft tissue component. Biopsy of the soft tissue eventually confirmed the diagnosis of mesenchymal chondrosarcoma. He succumbed to his illness before the diagnosis was confirmed. We hope that through this case report, we are able to provide some insight into this rare condition.