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ABSTRACT@#Orofacial clefts (OFC) are one of the most common birth defects that affects the lip, palate, or lip and palate of an infant. The deterioration of clefts is multifactorial involving multiple genes, various interactions from environmental factor and most forgotten, mitochondrial abnormality. The aim of this review is to highlight the importance of mitochondrial activity related to non-syndromic OFC deformity. Despite its important role in cells, the study on mitochondrial activity in cleft pathology was scarce and almost forgotten compared to other genetic investigations. This systematic review was completed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. The literature search was done via the following databases: Google Scholar, Pubmed and Scopus with a total of nine studies of mitochondrial abnormalities were included. We hypothesise that mitochondria play an important role in early craniofacial development. A decreased in its function or activity may result in cleft lip formation. Hence, we would like to shed light on the remarkable role of mitochondria activity in the pathogenesis of non-syndromic OFC.
Assuntos
DNA Mitocondrial , Fenda Labial , Fissura PalatinaRESUMO
@#Pilomatrixoma (PMX) is a benign skin adnexal tumour with matrical differentiation. It frequently presents as a painless and slow growing solitary skin nodule primarily at the head, face and neck regions. Although there is increasing understanding on the clinical presentations and morphological features of PMX, difficulties are still expected in establishing the clinical and cytological diagnosis. We report a young girl who presented with a painless post-auricular swelling for one year with sudden increased in size. Computed Tomography (CT) scan and fine needle aspiration cytology (FNAC) findings were suggestive of a malignancy. Diagnosis of PMX was established and confirmed by tissue histopathological examination. The purpose of this study is to demonstrate the diagnostic pitfall of PMX in FNAC specimens, especially in patients with unusual clinical presentations.
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@#Cervical vagal schwannoma is an uncommon, benign neoplasm. It is usually asymptomatic and presents as a painless, palpable mass in the neck. However, large schwannomas can cause dysphagia, dysphonia or dyspnea as a result of compression. We report a case of an extremely rare complication of vagal schwannoma in which neck palpation induced the patient to cough. As the patient refused any surgical intervention, conservative management was used.
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Background: Endometrial cancer is the most common gynaecologic malignancy among females worldwide. The purpose of this study was to determine the median survival time of endometrial cancer patients at the Hospital Universiti Sains Malaysia (USM). Methods: A list of 121 endometrial cancer cases registered at Hospital USM between 2000 until 2011 was retrospectively reviewed. The survival time of the endometrial cancer patients was estimated by Kaplan-Meier survival analysis. Log-rank tests were performed to compare the survival of the patients based on socio-demographics and clinical presentation. Results: Only 108 patients, 87.0%, were included who were of Malay ethnicity. Previous history included menopause in 67.6% of patients and diabetes mellitus in 39.8% of patients; additionally, 63.4% of patients were nulliparous. Tumour staging was as follows: 24.5% stage I, 10.8% stage II, 26.5% stage III and 38.2% stage IV. The overall median survival time of the endometrial cancer patients was 70.20 months (95% confidence interval (CI): 51.79, 88.61). The significant factors were age, the presence of lymphovascular invasion and treatment received. Conclusion: The overall survival of endometrial cancer was low. A prospective study needs to be carried out to discover more effective and accurate tests for the early detection of endometrial cancer.