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Sci Rep ; 9(1): 9020, 2019 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-31227763


The cancer-predisposing syndrome caused by biallelic mutations in NTHL1 may not be a solely colorectal cancer (CRC) and polyposis syndrome but rather a multi-tumor recessive disease. The presence of ≤10 adenomas in several mutation carriers suggests a possible causal role of NTHL1 in hereditary or early-onset nonpolyposis CRC. The involvement of NTHL1 in serrated/hyperplastic polyposis remains unexplored. The aim of our study is to elucidate the role of NTHL1 in the predisposition to personal or familial history of multiple tumor types, familial/early-onset nonpolyposis CRC, and serrated polyposis. NTHL1 mutational screening was performed in 312 cancer patients with personal or family history of multiple tumor types, 488 with hereditary nonpolyposis CRC, and 96 with serrated/hyperplastic polyposis. While no biallelic mutation carriers were identified in patients with personal and/or family history of multiple tumor types or with serrated polyposis, one was identified among the 488 nonpolyposis CRC patients. The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. Our findings suggest that biallelic mutations in NTHL1 rarely cause CRC, a personal/familial multi-tumor history, or serrated polyposis, in absence of adenomas.

Cir. plást. ibero-latinoam ; 45(2): 175-181, abr.-jun. 2019. graf, tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-184225


Introducción y objetivo. La cirugía de vulvectomía se asocia a una gran incidencia de complicaciones de la herida quirúrgica que pueden evitarse mediante la reconstrucción inmediata de la vulva. En este trabajo buscamos presentar los resultados obtenidos en nuestro centro hospitalario mediante la introducción de un protocolo de reconstrucción inmediata tras vulvectomía. Material y método. En enero de 2017 se implantó en nuestro hospital un protocolo de reconstrucción inmediata tras vulvectomía con el fin de establecer una serie de criterios que permitan al ginecólogo detectar aquellas pacientes con alto riesgo de dehiscencia de la herida tras vulvectomía y contactar con el Servicio de Cirugía Plástica para coordinar la reconstrucción inmediata de la vulva. Durante un periodo de 18 meses registramos los datos de las pacientes sometidas a dicha intervención: edad, tipo de neoplasia, criterio reconstructivo, técnica reconstructiva, uni o bilateralidad, estancia hospitalaria y complicaciones en los 30 primeros días de postoperatorio. Resultados. Registramos un total de 9 pacientes sometidas a reconstrucción inmediata: 8 mediante colgajo en flor de loto y 1 mediante colgajo miocutáneo de gracilis. La estancia media hospitalaria fue de 31.4 días y 3 pacientes presentaron complicaciones postoperatorias en forma de dehiscencia de la herida quirúrgica. Conclusiones. Consideramos que nuestro protocolo es una herramienta adecuada para desarrollar una colaboración interdepartamental entre Ginecología y Cirugía Plástica y para implantar la reconstrucción vulvar inmediata

Background and objective. Vulvectomy surgery is associated with a high incidence of surgical wound complications that may be avoided with immediate vulvar reconstruction. In this paper we present the results obtained in our hospital with the implementation of an immediate vulvar reconstruction protocol. Methods. In January 2017 we established an immediate vulvar reconstruction protocol in our center with a list of criteria that would allow the gynecologist to detect those patients with a high risk of wound dehiscence after vulvectomy in order to coordinate the immediate reconstruction of the vulva with our Plastic Surgery Service. For the next 18 months, we recorded the information of those patients intervened: age, pathology, reconstructive criteria, reconstructive technique, laterality, hospital stay and complications during the first 30 postoperative days. Results. We performed immediate vulvar reconstruction in 9 patients: 8 with a lotus flap and 1 with a gracilis myocutaneous flap. Mean stay was 31.4 days and 3 patients developed complications in the form of surgical wound dehiscence. Conclusions. We consider that our protocol is a useful tool for the implantation of immediate vulvar reconstruction and to establish a collaboration between gynecologists and plastic surgeons

Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias Vulvares/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Vulvectomia/métodos , Protocolos Clínicos , Ferida Cirúrgica/cirurgia , Deiscência da Ferida Operatória/cirurgia , Vulva/patologia , Vulva/cirurgia , Vulvectomia/efeitos adversos , Ferida Cirúrgica/complicações , Complicações Pós-Operatórias/cirurgia , Algoritmos
J Med Microbiol ; 62(Pt 11): 1673-9, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23924662


Mortality from bloodstream infections (BSIs) correlates with diagnostic delay and the use of inappropriate empirical treatment. Early PCR-based diagnosis could decrease inappropriate treatment, improving patient outcome. The aim of the present study was to assess the clinical utility of this molecular technology to diagnose BSIs. We assessed a new dual-priming oligonucleotide-based multiplex PCR assay, the Magicplex Sepsis Test (MST) (Seegene), along with blood culture (BC). A total of 267 patients from the intensive care unit and haematology and emergency departments were enrolled. Clinical data were also used by physicians to determine the likelihood of infection. Ninety-eight (37 %) specimens were positive: 29 (11 %) by both the MST and BC, 29 (11 %) by the MST only, and 40 (15 %) by BC only. The proportion of agreement between the two methods was 73 % (Cohen's κ: 0.45; 0.28-0.6; indicating fair to moderate agreement). According to clinical assessment, 63 (64 %) positive specimens were considered BSIs: 23 (36 %) were positive by both the MST and BC, 22 (35 %) were positive only by BC, and 18 (29 %) were positive only by the MST. Thirty-eight (14 %) positive specimens by the MST and/or BC were considered as contaminants. Of 101 specimens collected from patients receiving antibiotics, 20 (20 %) were positive by the MST and 32 (32 %) by BC. Sensitivity and specificity were 65 % and 92 %, respectively, for the MST and 71 % and 88 %, respectively for BC. We concluded that the MST shows a high specificity but changes in design are needed to increase bacteraemia detection. For viability in clinical laboratories, technical improvements are also required to further automate the process.

Bacteriemia/diagnóstico , Reação em Cadeia da Polimerase Multiplex/métodos , Humanos , Oligonucleotídeos/genética , Estudos Prospectivos , Sensibilidade e Especificidade
Acta cient. venez ; 44(6): 355-64, 1993. ilus, tab
Artigo em Inglês | LILACS | ID: lil-137250


Studies of physical, chemical and biological variables of the pelagic community were performed during 1989 in Zaza, the largest freshwater reservoir in Cuba. The reservoir is warm-monomictic. The circulation period lasted from October to March and the water column stability was low, due to a large surface area and to a wind exposed location. Dissolved oxygen was usually below the saturation point, owing to a high load of organic matter. The low oxygen concentrations appear to have responsible for a low efficiency in the decomposition of organic matter and in denitrification. The inorganic fraction of nitrogen was always detectable in the upper circulating layer (0-12 m), whereas inorganic phosphorus was only detectable after June. Standing stock of phytoplankton was relatively low. Phytoplankton production was probably limited by light and phosphorus. Diatoms dominated during the mixing period and Cyanophyceae and Crytophyceae during stratification. For most part of the year biomass of Copepoda was higher than biomass of Cladocera and Rotatoria

Cuba , Ecologia , Fitoplâncton , Rotíferos