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1.
J Med Virol ; 93(7): 4488-4495, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33768594

RESUMO

To describe the factors associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in mild-to-moderate patients attending for assessment. This observational study was conducted in a Model 4 tertiary referral center in Ireland. All patients referred for SARS-CoV-2 assessment over a 4-week period were included. Patient demographics, presenting symptoms, comorbidities, medications, and outcomes (including length of stay, discharge, and mortality) were collected. Two hundred and seventy-nine patients were assessed. These patients were predominantly female (62%) with a median age of 50 years (SD 16.9). Nineteen (6.8%) patients had SARS-CoV-2 detected. Dysgeusia was associated with a 16-fold increased prediction of SARS-CoV-2 positivity (p = .001; OR, 16.8; 95% CI, 3.82-73.84). Thirteen patients with SARS-COV-2 detected (68.4%) were admitted, in contrast with 38.1% (99/260) of patients with SARS-CoV-2 non-detectable or not tested (p = .001). Female patients were more likely to be hospitalized (p = .01) as were current and ex-smokers (p = .05). We describe olfactory disturbance and fever as the main presenting features in SARS-CoV-2 infection. These patients are more likely to be hospitalized with increased length of stay; however, they make up a minority of the patients assessed. "Non-detectable" patients remain likely to require prolonged hospitalization. Knowledge of predictors of hospitalization in a "non-detectable" cohort will aid future planning and discussion of patient assessment in a SARS-CoV-2 era.


Assuntos
Teste de Ácido Nucleico para COVID-19/métodos , COVID-19/diagnóstico , COVID-19/patologia , Feminino , Hospitalização , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , SARS-CoV-2/isolamento & purificação , Fatores Sexuais , Centros de Atenção Terciária
2.
Cancer Epidemiol ; 82: 102314, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36608496

RESUMO

BACKGROUND: Lynch Syndrome (LS), the most common cause of hereditary colorectal cancer (CRC), is characterised by pathogenic variants in mismatch repair (MMR) genes. Universal testing of all CRCs for LS can increase detection. Rates and outcomes of testing in Ireland's national CRC screening programme have not been examined previously. METHODS: CRCs diagnosed at two screening sites between 2015 and 2020 were identified. Patient records were used to determine if CRCs had been tested for MMR deficiency and if detected, what downstream testing to rule out LS or genetic testing to confirm LS was undertaken. RESULTS: Over five years, 206 CRCs were diagnosed. Testing for LS was carried out for 100% of CRCs at site A and 69% of CRCs at site B. Of CRCs tested for LS, 14 (8%) were MMR deficient. After downstream testing for BRAF mutation or hypermethylation of MLH1, three CRCs were identified as potentially LS-related. Of these two individuals declined genetic testing and one was lost to follow-up. CONCLUSIONS: By 2020 both sites had implemented universal testing of all CRCs for LS. A small number of individuals were identified as being eligible for genetic testing for LS, however those offered declined testing and one individual was lost to follow up. This highlights the importance of universal testing and the need for referral pathways to ensure all appropriate individuals are referred onwards to genetic services.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias Colorretais , Síndromes Neoplásicas Hereditárias , Humanos , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Detecção Precoce de Câncer , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Síndromes Neoplásicas Hereditárias/genética , Testes Genéticos , Reparo de Erro de Pareamento de DNA/genética
4.
PLoS One ; 15(5): e0233609, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32442219

RESUMO

Aegle marmelos L. (Bael) is a native tree fruit species in the Indian subcontinent and Southeast Asia. Bael is a popular fruit because of its significant nutritional and medicinal properties. However, bael is an underutilized fruit species in Sri Lanka. Thus, Fruit Crop Research and Development Station of the Department of Agriculture of Sri Lanka has selected five elite bael accessions (Beheth Beli, Paragammana, Mawanella, Rambukkana, and Polonnaruwa-Supun). We assessed these five accessions for the variation of the fruit size, pulp, organoleptic preference, elemental properties, genetic diversity, and evolutionary history. The fruits at the golden-ripe stage were collected during the peak fruiting seasons in 2015, 2016, and 2017. The fruit size, pulp, shell thickness, and seed size were measured and subjected to the General Linear Model (GLM) and Principal Component (PC) Analyses. The fruit pulp was distributed among a group of 30 taste-panelists to rank for the parameters: external appearance, flesh color, aroma, texture, sweetness, and overall preference. The rank data were subjected to association and PC analyses. The elemental contents of the fruit pulp samples were measured using Inductively coupled plasma mass spectrometry and subjected to GLM and PC analyses. We observed a significant diversity in fruit size, organoleptic preference, and elemental contents among bael accessions. Rambukkana and Polonnaruwa-Supun yield the biggest and most preferred fruits. We used trnH-psbA, atpB-rbcL spacer, matk-trnT spacer, and trnL markers to construct phylogenies. Sri Lankan bael split from an Indian counterpart, approximately 8.52 MYA in the Pliocene epoch. However, broader germplasm of Indian bael must be assessed to see the presence of any independent evolution within Sri Lanka.


Assuntos
Aegle/química , Frutas/química , Extratos Vegetais/química , Aegle/classificação , Filogenia , Sri Lanka
5.
Gastrointest Tumors ; 5(3-4): 82-89, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30976579

RESUMO

BACKGROUND AND STUDY AIM: The European guidelines for colorectal cancer screening state that snare resection should remove any polyps ≥5 mm. This study aimed to investigate if these new guidelines are adhered to in clinical practice. PATIENTS AND METHODS: This study consists of patients who underwent colonoscopies in Tallaght Hospital, Dublin (AMNCH), between 2012 and 2015. The size of the polyp, the method of removal, and the subspecialty and grade of the endoscopists were all recorded. RESULTS: 6,000 colonoscopies were reviewed and 687 (12.5%) of these patients were found to have polyps. In 655 (95%) colonoscopies, the caecum was positively identified. In all, 371 (54%) of the polyps detected were < 5 mm; resection via forceps was carried out in n405 cases (59%). Overall, 16% (n = 45) of the polyps > 5 mm underwent resection with forceps, showing that the new European guidelines are not being tightly adhered to. CONCLUSIONS: This study found an 84% compliance with polypectomy resection guidelines which is an improvement on previous studies. However, endoscopist grade significantly affected compliance and may reflect overall competency, highlighting the need for specific training in snare polypectomy techniques.

7.
Int J Appl Basic Med Res ; 8(1): 38-41, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29552534

RESUMO

BACKGROUND: Urine is a supersaturated solution with solutes in very high concentration. Matrix gla protein (MGP) is one of the proteins involved in inhibition of extracellular calcification. Among the various polymorphisms studied, polymorphism of SNP rs4236 in the MGP gene is found to have association with nephrolithiasis. We evaluated the significance of SNP rs4236 polymorphism in nephrolithiasis among the Indian population. MATERIALS AND METHODS: The study was conducted in 2013 and 2014 among fifty participants. Twenty-five of them were patients with documented symptomatic stone disease and the 25 controls had no history of stone disease and ultrasonogram was normal. Serum creatinine was estimated in all patients. DNA was isolated from the blood sample and amplified by polymerase chain reaction using defined primers. Single strand conformational polymorphism was done to identify abnormal bands and the same was sequenced. RESULTS: The patients and controls were matched in age and sex. The serum creatinine levels were similar in both groups. The predominant change in SNP rs4236 in patients was a G to A nucleotide change, resulting in AA homozygous genotype. This was found in 60% of patients. The rest (40%) of patients and all (100%) controls had heterozygous AG genotype. This corresponds to a stone disease with an odds ratio (OR) of 75 (P < 0.003). CONCLUSION: This first study in Indian population shows that genotype AA polymorphism of SNP rs4236 of MGP gene was found to be significant risk factor for renal stone disease. Studies with larger sample size may be needed to confirm this finding and elucidate the exact OR.

8.
J Clin Diagn Res ; 9(1): PD22-4, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25738034

RESUMO

Colonic lipomas are rare benign tumours that are usually asymptomatic. Large colonic lipomas can present with symptoms such as constipation, abdominal pain, bleeding per rectum, and intussusception. We report the case of an 82-year-old man presenting with sudden onset lower abdomen pain and features of peritonitis. An exploratory laparotomy revealed a perforation of sigmoid colon with a fleshy mass protruding through the perforation. No case of spontaneous perforated sigmoid colon by submucous giant lipoma is reported yet in the literature. We discuss the details of first such case, our management, the outcome and also briefly review the literature.

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