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1.
Mol Genet Genomic Med ; 11(11): e2244, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37548407

RESUMEN

BACKGROUND: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management. METHODS: In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct sequencing and multiplex ligation-dependent probe amplification. RESULTS: In total, 34 different mutations were found in 36 patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 frameshifts and 17 nonsense mutations. There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar. CONCLUSION: A higher rate of RB patients carrying heterozygous germline mutation and highly prevalent with pathogenic truncated mutation, hence, early detection of RB is essential for vision salvation and genetic counselling.


Asunto(s)
Neoplasias de la Retina , Retinoblastoma , Niño , Humanos , Retinoblastoma/genética , Retinoblastoma/patología , Vietnam , Mutación , Pruebas Genéticas , Neoplasias de la Retina/genética , Neoplasias de la Retina/patología
2.
Ann Med Surg (Lond) ; 80: 104207, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36045782

RESUMEN

Introduction: Ovarian metastasis from lung cancer is very rare, which might lead to a misdiagnosis as primary ovarian cancer. Case presentation: We report a 49-year-old woman presenting to our hospital because of a painful mass in the lower abdomen, with no respiratory symptoms. Her initial diagnosis was stage IVB ovarian cancer with pulmonary metastasis. Therefore, the patient underwent neo-adjuvant Paclitaxel - Carbolatin chemotherapy followed by interval debulking surgery. However, postoperative histopathology and immunohistochemistry findings confirmed the diagnosis of primary lung cancer with ovarian metastases. EGFR exon 19 deletion mutation was found by tumor analysis. Therefore, she was then treated with erlotinib and the disease achieved the partial response and remained stable for 7 months. Conclusion: Diagnosis of lung cancer in the context of ovarian and peritoneal metastases can be difficult. In this circumstance, thorough systemic assessment and immunohistochemistry are essential to confirm the primary.

3.
Parasitol Res ; 120(9): 3245-3253, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34386855

RESUMEN

Taenia hydatigena is a globally distributed canine tapeworm. The canine tapeworm results in economic impacts for farmers owing to organ condemnation. T. hydatigena utilizes dogs and other carnivores as definitive hosts while swine and ruminants serve as intermediate hosts. T. hydatigena is endemic in Vietnam; however, information on the prevalence and risk factors associated with infection is scarce. This cross-sectional study aims to identify the prevalence of T. hydatigena taeniasis in dogs and T. hydatigena cysticercosis in pigs and cattle. The risk factors associated with taeniasis in dogs were identified using a fixed effects logistic regression model and quantified using population attributable fractions. The prevalence of T. hydatigena taeniasis in dogs and T. hydatigena cysticercosis in pigs and cattle was 10.31% (95% CI 8.21 to 12.84%), 7.60% (95% CI 6.34 to 9.08%), and 11.11% (95% CI 7.63 to 11.81%), respectively; these levels were lower than those reported in other regions of Vietnam. The population attributable fraction of risk factors associated with T. hydatigena taeniasis in dogs for dogs living in proximity of an abattoir, those having access to raw pork or beef viscera, and those living in multi-dog households were 80%, 19%, and 7%, respectively. This current study identified and quantified the risk factors for taeniasis in dogs thus advocating for targeted community intervention programs to break the lifecycle of T. hydatigena in Dak Lak province.


Asunto(s)
Taenia , Teniasis/veterinaria , Animales , Bovinos/parasitología , Enfermedades de los Bovinos/epidemiología , Enfermedades de los Bovinos/parasitología , Estudios Transversales , Enfermedades de los Perros/epidemiología , Enfermedades de los Perros/parasitología , Perros/parasitología , Prevalencia , Factores de Riesgo , Porcinos/parasitología , Enfermedades de los Porcinos/epidemiología , Enfermedades de los Porcinos/parasitología , Taenia/aislamiento & purificación , Teniasis/epidemiología , Vietnam/epidemiología
4.
Parasit Vectors ; 8: 401, 2015 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-26216353

RESUMEN

BACKGROUND: Differentiation of canine hookworm species is crucial from both a veterinary and public health standpoint. In Vietnam, three hookworm species, namely Ancylostoma caninum, Ancylostoma braziliense and Uncinaria stenocephala are reported to infect dogs. In light of the emerging distribution of A. ceylanicum in Asia, this study aims to re-evaluate the status of Ancylostoma in dogs in Vietnam. METHODS: Faecal samples collected from 200 community dogs in Dak Lak province were subjected to faecal floatation for the detection of hookworm eggs. Hookworm-positive samples were subjected to a PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) assay targeting the internal transcribed spacer (ITS) region of rDNA for hookworm species identification. A subset of hookworm-positive samples was also subject to haplotype characterisation at the cytochrome oxidase-1 (COX-1) gene. Detailed morphological criteria were utilised in addition to molecular markers, to identify adult hookworms recovered from necropsied dogs. RESULTS: Of 200 canine faecal samples, 111 (55.5 %) were positive for hookworm eggs on faecal flotation. Of these, 94/111 (84.7 %) were successfully amplified and assigned species status by PCR-RFLP targeting the ITS region. In total, 54.3 % (51/94) dogs harboured single infections with A. ceylanicum, 33.0 % (31/94) with A. caninum, and 12.7 % (12/94) harboured mixed infections with both A. ceylanicum and A. caninum. Adult worms recovered from necropsied dogs matched morphological description provided for A. ceylanicum, Looss (1911) for which the mediolateral and posteriolateral rays are parallel. Characterisation of the COX-1 gene placed all Vietnamese canine isolates of A. ceylanicum within the 'zoonotic' haplotype. CONCLUSION: Based on this information, it is apparent that the hookworms present in dogs in Vietnam are those of A. ceylanicum and not A. braziliense. Owing to the endemic nature of this significant zoonosis in dogs, the study strongly advocates for specific identification of this hookworm in human hookworm surveys.


Asunto(s)
Ancylostomatoidea/clasificación , Enfermedades de los Perros/parasitología , Infecciones por Uncinaria/veterinaria , Ancylostomatoidea/genética , Animales , ADN de Helmintos/genética , Enfermedades de los Perros/epidemiología , Perros , Complejo IV de Transporte de Electrones/genética , Complejo IV de Transporte de Electrones/metabolismo , Regulación Enzimológica de la Expresión Génica , Haplotipos , Infecciones por Uncinaria/epidemiología , Infecciones por Uncinaria/parasitología , Filogenia , Vietnam/epidemiología
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