RESUMO
BACKGROUND: We investigated the prevalence of Lynch syndrome as a hereditary cause of colon cancer in the young Jamaican colorectal cancer (CRC) population. METHODS: We identified patients aged 40 years or younger in whom primary CRC was diagnosed at the University Hospital of the West Indies from January 2004 to December 2008. We reviewed the medical records and hematoxylin and eosin (H&E)-stained histopathology slides. Tumour blocks were tested for microsatellite instability (MSI). Patients with MSI-high phenotype (MSI-H) tumours had genetic counselling, after which genomic DNA was extracted from peripheral blood to test for MLH1 and MSH2 germline mutations. Patients also had pedigree mapping. RESULTS: There were 25 patients with CRC aged 40 years or younger with no history of hereditary colon cancer syndrome. The patients' mean age was 33 (range 21-40) years. Histopathologic review confirmed CRC in all patients; 8 of 25 (32%) showed morphologic features suggestive of MSI. We detected MSI-H in 5 of 23 (22%) tumour blocks tested. Review with H&E staining correctly identified 80% of cases positive for MSI-H. The false-positive rate and positive predictive value on H&E review was 50%. The negative predictive value of histomorphologic H&E review was 94%. Three patients were available for and had mutational analysis of DNA mismatch repair genes; 2 were positive for mutations in keeping with Lynch syndrome and 1 had MLH1 alterations of uncertain significance. All 3 met the Amsterdam criteria for hereditary nonpolyposis CRC. CONCLUSION: Thirteen percent of the population had mutations in keeping with Lynch syndrome. This prevalence is similar to that reported for white populations.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , População Negra/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Mutação em Linhagem Germinativa , Proteína 2 Homóloga a MutS/genética , Proteínas Nucleares/genética , Adulto , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Fatores de Confusão Epidemiológicos , Análise Mutacional de DNA , Feminino , Humanos , Jamaica/epidemiologia , Masculino , Proteína 1 Homóloga a MutL , Linhagem , Valor Preditivo dos Testes , Projetos de Pesquisa , Estudos RetrospectivosRESUMO
Transformation of agricultural crops with novel genes has significantly advanced disease-resistance breeding, including virus resistance through the expression of virus sequences. In this study, the effects of long-term, repeated exposure to transgenic papayas carrying the coat protein gene of Papaya ringspot virus and conventional non-transgenic papaya on the histology and selected biochemical parameters of the intestinal tract were compared. For 3 months, male and female Wistar rats received diets containing transgenic or non-transgenic papaya at twice the equivalent of the average daily consumption of fresh papayas. Gross and macroscopic appearance of intestinal tissues, as well as stomach tissues, was comparable (P < 0.05) as were total intestinal bacterial counts and activities of beta-glucuronidase. Activities of disaccharidases were not affected, neither were those of amylase (P < 0.05). Although significant differences were noted in the activity of Ca(2+) and Na(+)/K(+) ATPase brush border enzymes, no morphological alteration in the integrity of the intestinal mucosa was found. Overall, negligible effects on feed intake, body weight, and fecal output were observed (P < 0.05). Taken together, long-term exposure to diets formulated with transgenic papaya did not result in biologically important unintended effects.
Assuntos
Ração Animal/virologia , Carica/virologia , Trato Gastrointestinal/metabolismo , Plantas Geneticamente Modificadas/virologia , Potyvirus , Amilases/metabolismo , Ração Animal/efeitos adversos , Animais , Cálcio/metabolismo , Carica/genética , Dissacaridases/metabolismo , Feminino , Trato Gastrointestinal/patologia , Trato Gastrointestinal/virologia , Glucuronidase/metabolismo , Masculino , Microvilosidades/enzimologia , Plantas Geneticamente Modificadas/genética , Ratos , Ratos Wistar , ATPase Trocadora de Sódio-Potássio/metabolismoRESUMO
The clinical, histological and immunohistochemical features of the first three cases of mammary hamartoma diagnosed at the University of the West Indies are reported. These tumours are innocuous and under-recognized although the mammographic features are characteristic. With increased utilization of this test in breast cancer detection in our region, it is likely that more of these legions will be identified.
Assuntos
Adulto , Feminino , Humanos , Doenças Mamárias , Neoplasias da Mama/patologia , Hamartoma/patologia , Mamografia , JamaicaRESUMO
Multicentric angiofollicular lymph node hyperplasia (MAFH) is a rare disorder which has been associated with various disease entities. This is the first report of its association with ulcerative colitis. details of lymph node histology and views on pathogenesis
Assuntos
Adulto , Humanos , Masculino , Colite Ulcerativa/complicações , Hiperplasia do Linfonodo Gigante/complicações , Hiperplasia do Linfonodo Gigante/patologia , Biópsia , Evolução Fatal , Fígado/patologiaRESUMO
Systemic fungal infections are rare. In pregnancy, treatment is problematic because of the risk of possible teratogenic effects of the antifungal drugs. We present the case of a 32 year-old woman who presented during pregnancy with a two-month history of painless subcutaneous nodules. Excision biopsy of one lesion showed dematiaceous fungal elements. Anti-fungal treatment was deferred and the pregnancy proceeded uneventfully. The remaining nodules were excised at the time of caesarean section delivery. Three weeks into the puerperium, she developed generalised seizures and investigations indicated systemic fungal infection with positive cultures for Aureobasidium spp which responded to appropriate antifungal therapy of flucytosine and itraconazole.