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1.
Acta Clin Belg ; 69(1): 76-81, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24635405

RESUMO

We report the case of a 56-year-old male patient who was admitted to the emergency department with crescendo abdominal pain since 2 weeks. In the past 2 years, similar but less pronounced episodes were present, each time resolving spontaneously after spasmolytic drugs. Abdominal ultrasound revealed an ileocecal intussusception. An attempt for preoperative reduction was partially successful. A colonoscopy was performed and showed a tubulovillous adenomatous polyp with high-grade dysplasia, but subsequent right hemicolectomy revealed an underlying cecal adenocarcinoma. The combination of the low incidence and the non-specific symptoms of ileocecal intussusception in the adult makes this entity difficult to diagnose. In most cases, modern imaging techniques such as CT scan, ultrasound, or MRI make the correct preoperative diagnosis. Especially when colonic involvement is present, suspicion of a malignant lead point (i.e. culprit lesion) is primordial. The therapeutic strategy depends on several variables and asks for a patient-tailored, selective approach mostly involving surgery. Based on this case and a short review of literature, we discuss the clinical presentation, diagnostic tools, treatment, and challenges of adult ileocecal intussusception.


Assuntos
Doenças do Ceco/diagnóstico , Doenças do Ceco/cirurgia , Doenças do Íleo/diagnóstico , Doenças do Íleo/cirurgia , Intussuscepção/diagnóstico , Intussuscepção/cirurgia , Colectomia , Colonoscopia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade
2.
Forensic Sci Int Genet ; 8(1): 203-12, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24315610

RESUMO

The European DNA Profiling Group (EDNAP) organized a fourth and fifth collaborative exercise on RNA/DNA co-analysis for body fluid identification and STR profiling. The task was to identify dried menstrual blood and vaginal secretion stains using specific RNA biomarkers, and additionally test 3 housekeeping genes for their suitability as reference genes. Six menstrual blood and six vaginal secretion stains, two dilution series (1/4-1/64 pieces of a menstrual blood/vaginal swab) and, optionally, bona fide or mock casework samples of human or non-human origin were analyzed by 24 participating laboratories, using RNA extraction or RNA/DNA co-extraction methods. Two novel menstrual blood mRNA multiplexes were used: MMP triplex (MMP7, MMP10, MMP11) and MB triplex (MSX1, LEFTY2, SFRP4) in conjunction with a housekeeping gene triplex (B2M, UBC, UCE). Two novel mRNA multiplexes and a HBD1 singleplex were used for the identification of vaginal secretion: Vag triplex (MYOZ1, CYP2B7P1 and MUC4) and a Lactobacillus-specific Lacto triplex (Ljen, Lcris, Lgas). The laboratories used different chemistries and instrumentation and all were able to successfully isolate and detect mRNA in dried stains. The simultaneous extraction of RNA and DNA allowed for positive identification of the tissue/fluid source of origin by mRNA profiling as well as a simultaneous identification of the body fluid donor by STR profiling, also from old and compromised casework samples. The results of this and the previous collaborative RNA exercises support RNA profiling as a reliable body fluid identification method that can easily be combined with current STR typing technology.


Assuntos
Sangue , DNA/genética , Menstruação , RNA/genética , Vagina/metabolismo , Líquidos Corporais/metabolismo , Feminino , Humanos
3.
Forensic Sci Int Genet ; 7(2): 230-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23165093

RESUMO

A third collaborative exercise on RNA/DNA co-analysis for body fluid identification and STR profiling was organized by the European DNA Profiling Group (EDNAP). Twenty saliva and semen stains, four dilution series (10-0.01 µl saliva, 5-0.01 µl semen) and, optionally, bona fide or mock casework samples of human or non-human origin were analyzed by 20 participating laboratories using an RNA extraction or RNA/DNA co-extraction method. Two novel mRNA multiplexes were used: a saliva triplex (HTN3, STATH and MUC7) and a semen pentaplex (PRM1, PRM2, PSA, SEMG1 and TGM4). The laboratories used different chemistries and instrumentation and a majority (16/20) were able to successfully isolate and detect mRNA in dried stains. The simultaneous extraction of RNA and DNA from individual stains not only permitted a confirmation of the presence of saliva/semen (i.e. tissue/fluid source of origin), but allowed an STR profile of the stain donor to be obtained as well. The method proved to be reproducible and sensitive, with as little as 0.05 µl saliva or semen, using different analysis strategies. Additionally, we demonstrated the ability to positively identify the presence of saliva and semen, as well as obtain high quality DNA profiles, from old and compromised casework samples. The results of this collaborative exercise involving an RNA/DNA co-extraction strategy support the potential use of an mRNA based system for the identification of saliva and semen in forensic casework that is compatible with current DNA analysis methodologies.


Assuntos
DNA/análise , RNA/análise , Saliva/química , Sêmen/química , DNA/genética , Eletroforese Capilar , Humanos , Reação em Cadeia da Polimerase , RNA/genética
4.
Forensic Sci Int Genet ; 6(1): 70-80, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21459062

RESUMO

A second collaborative exercise on RNA/DNA co-analysis for body fluid identification and STR profiling was organized by the European DNA Profiling Group (EDNAP). Six human blood stains, two blood dilution series (5-0.001 µl blood) and, optionally, bona fide or mock casework samples of human or non-human origin were analyzed by the participating laboratories using a RNA/DNA co-extraction or solely RNA extraction method. Two novel mRNA multiplexes were used for the identification of blood: a highly sensitive duplex (HBA, HBB) and a moderately sensitive pentaplex (ALAS2, CD3G, ANK1, SPTB and PBGD). The laboratories used different chemistries and instrumentation. All of the 18 participating laboratories were able to successfully isolate and detect mRNA in dried blood stains. Thirteen laboratories simultaneously extracted RNA and DNA from individual stains and were able to utilize mRNA profiling to confirm the presence of blood and to obtain autosomal STR profiles from the blood stain donors. The positive identification of blood and good quality DNA profiles were also obtained from old and compromised casework samples. The method proved to be reproducible and sensitive using different analysis strategies. The results of this collaborative exercise involving a RNA/DNA co-extraction strategy support the potential use of an mRNA based system for the identification of blood in forensic casework that is compatible with current DNA analysis methodology.


Assuntos
DNA/sangue , RNA/sangue , Comportamento Cooperativo , Humanos , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase
5.
Acta Clin Belg ; 59(5): 258-62, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15641395

RESUMO

Chronic watery diarrhoea is the main symptom of the microscopic colitis syndrome, including collagenous colitis (CC), lymphocytic colitis (LC), and not otherwise specified (NOS) colitis. The goal of this study was to evaluate the anti-diarrhoeal effect of cholestyramine in non collagenous microscopic colitis. The records of 13 patients with LC and 7 patients with NOS, who had received cholestyramine as first line therapy and who responded to a questionnaire, were reviewed. On an intention to treat basis, a good clinical effect of cholestyramine was achieved in 75 % of the patients in both LC and NOS colitis. There was no therapeutic effect in 15 % of the patients, who all had LC. In general, the anti-diarrhoeal effect appeared within one week of treatment. Cholestyramine provides a rapid and adequate symptomatic relief of the diarrhoea in non collagenous microscopic colitis.


Assuntos
Resina de Colestiramina/uso terapêutico , Colite Microscópica/tratamento farmacológico , Colite Microscópica/patologia , Diarreia/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Estudos de Coortes , Colite Colagenosa/complicações , Colite Colagenosa/tratamento farmacológico , Colite Colagenosa/patologia , Colite Microscópica/complicações , Diarreia/etiologia , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Seguimentos , Humanos , Mucosa Intestinal/efeitos dos fármacos , Mucosa Intestinal/patologia , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Qualidade de Vida , Medição de Risco , Índice de Gravidade de Doença , Inquéritos e Questionários , Resultado do Tratamento
6.
Acta Gastroenterol Belg ; 60(3): 240-2, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9396183

RESUMO

We describe three patients who developed fundic gland polyps after starting a treatment with acid suppressive agents. All three patients were treated for a long time with H2-blockers or proton pump inhibiting agents for reflux oesophagitis. In one patient the fundic gland polyps disappeared after discontinuation of the acid suppressing therapy. A possible causal role of these agents is suggested. A review of the literature about fundic gland polyps and their possible association with acid suppressive therapy and a short review about proton pump inhibiting agents and the appearance of gastric polyps in general is given.


Assuntos
Antiulcerosos/efeitos adversos , Esofagite Péptica/tratamento farmacológico , Omeprazol/efeitos adversos , Pólipos/induzido quimicamente , Ranitidina/efeitos adversos , Neoplasias Gástricas/induzido quimicamente , Idoso , Idoso de 80 Anos ou mais , Antiulcerosos/uso terapêutico , Esofagite Péptica/diagnóstico , Esofagoscopia , Feminino , Fundoplicatura , Ácido Gástrico/metabolismo , Fundo Gástrico/patologia , Gastroscopia , Humanos , Masculino , Omeprazol/uso terapêutico , Pólipos/patologia , Pólipos/cirurgia , Ranitidina/uso terapêutico , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia
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