Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women.

Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.

p53 signaling pathway polymorphisms associated to recurrent pregnancy loss.

The p53 protein is known for performing essential functions in the maintenance of genomic stability in somatic cells and prevention of tumor formation. Studies of the p53 signaling pathway have suggested associations between some polymorphisms and infertility, post-in vitro fertilization implantation failure and recurrent abortions. The TP53 Pro72Arg polymorphism has been implicated as a risk factor for recurrent pregnancy loss (RPL); however, the association is controversial. In this study, our objective was to evaluate selected polymorphisms in genes of the p53 signalling pathway [TP53 c.215G>C (Pro72Arg), MDM2 c.14+309T>G (SNP309) and LIF c.1414T>G in the region 3' UTR] and determine their effect as risk factors for RPL. In a case-control study, we investigated 120 women with two or more pregnancy losses and 143 fertile control women reporting at least two live births and no history of pregnancy loss. When analyzed separately, the allele and genotype distributions of the polymorphisms in the two groups were not different. However, in a multivariate analysis adjusted for alcohol consumption, smoking, ethnicity, and number of pregnancies, the interaction between the genotypes TP53 Arg/Arg (rs1042522) and MDM2 TT (rs2279744) showed to be associated to RPL, increasing the risk for this condition (OR = 2.58, 95% CI: 1.31-5.07, p = 0.006). In conclusion, our study indicates that the combination of TP53 Arg/Arg (rs1042522) and MDM2 TT (rs2279744) genotypes may be a risk factor for RPL.

Resposta tumoral do carcinoma da cervice uterina a radioterapia: aspectos citoquimicos: teor de acido desoxirribonucleico / Tumoral response of carcinoma of the uterine cervix to radiotherapy: cytochemical aspects: desoxiribonucleic acid content

Pretendeu-se no presente trabalho obter dados indicativos da resposta do carcinoma invasivo da cervice uterina a radioterapia. Seguiu-se um grupo de 26 pacientes desde o diagnostico de carcinoma invasor ate o pos-tratamento imediato obtendo-se esfregacos para estudo citoquimico respectivamente na admissao, apos 4000 rads pelvicos (dose-teste) e 90 dias apos o final do tratamento, o que foi possivel em 11 pacientes. Sugere-se que a maior frequencia de valores altos e dispersivos de ADN, nos esfregacos vaginais e cervicais obtidos apos a dose-teste, seja uma caracteristica dos casos com resposta ao tratamento. Observou-se tambem dispersao dos valores de ADN quando persistiu o processo neoplasico apos a complementacao do tratamento, em contraposicao aos valores concentrados na regiao diploide, nos casos que responderam ao tratamento.

Resposta tumoral do carcinoma da cervice uterina a radioterapia: aspectos histologicos / Tumoral response of uterine carcinoma of the cervix to radiotherapy: hystological aspects

Pretendeu-se no presente trabalho identificar alteracoes histologicas indicativas da resposta do carcinoma de cervice uterina a radioterapia para uma eventual complementacao cirurgica. Seguiu-se um grupo de 26 pacientes desde o diagnostico de carcinoma invasor ate o pos-operatorio imediato, obtendo-se amostras do tumor para biopsia na admissao, apos dose-teste e 90 dias apos a finalizacao do tratamento, o que foi possivel em apenas 11 pacientes. Nao se estabeleceu do ponto de vista histologico uma correlacao entre as alteracoes observadas e a sensibilidade do tumor a irradiacao.

[Postoperative complications in acute abdomen: prospective study of 586 patients]. / Complicações pós-operatórias no abdome agudo: estudo prospectivo de 586 pacientes.

Septic complications were prospectively studied in 586 consecutive adult patients operated for acute abdominal conditions. The purpose was to identify the postoperative infectious problems and to correlate such findings with diagnostic syndrome and with mortality. The investigation was performed in the period of January 1981 to October 1986 and a specific protocol was designed, with data about identification, diagnosis, surgical treatment, infectious and general morbidity, as well as mortality. The distribution according to symptoms at admission, shows the following conditions: inflammatory disease--72.2% of the population; obstruction of the gastrointestinal tract--13.5%; perforative manifestations--11.0%; hemorrhagic conditions--3.3%. There were 138 infectious complications after surgery (65.4%), as compared with only 73 non-septic ones (34.6%). A significant association between inflammatory and perforative symptoms and postoperative sepsis could be demonstrated, when compared with patients admitted and operated for obstruction or hemorrhage. Among the former cases, patients already exhibiting signs of peritonitis suffered the highest number of surgical wound infections and intra-abdominal abscesses. Thirty two patients died, 27 (84.4%) in consequence of sepsis. It is concluded that sepsis was the main cause of morbidity and mortality in this series. Although fatal cases were equally distributed among the different diagnostic groups, infectious complications occurred more often after surgery for inflammatory and perforative emergencies, than after obstructive or hemorrhagic symptoms.

[Repercussions of blood transfusions on postoperative complications in patients with multiple trauma]. / Repercussões das transfusões sangüíneas sobre as complicações pós-operatórias em pacientes traumatizados.

Multiple factors connected with the trauma itself or with its therapy may cause post-operative complications in injured patients. In a previous study we have reported on a higher mortality rate in patients that received large quantities of blood. The present report concerns 223 cases of trauma by penetrating and non-penetrating injuries in which the possible influence of blood transfusions on subsequent morbidity was assessed. It was verified that transfused patients exhibited more infections and general complications, as well as a higher mortality rate than controls. A progressive effect related to the number of units of blood administered could be demonstrated. The most unfavorable outcomes correspond to the transfusions of more than 1500 ml of blood.

[Traumatic injuries of the colon: primary suture or colostomy?]. / Lesões traumáticas do cólon: sutura primária ou colostomia?

The indications for colostomies in traumatic lesions of the colon were prospectively analysed in the light of the anatomical and functional impairment, the time that elapsed after the injury and additional risk factors. In the period between January 1981 and June 1986 75 patients were operated for colonic trauma: 39 had gunshot wounds, 29 suffered stab wounds and seven had blunt injuries. Colostomies were indicated in 47 patients that presented the most severe lesions, whereas the other 28 patients underwent primary repair. Infectious complications occurred in 21 cases; they were related to a pre-operative interval of more than 10 hours, severity of colonic lesion (CIS) grade III to V, blood transfusion of more than 2500 ml, the presence of colostomy, and an abdominal trauma index (PATI) of more than 25. Five patients died in consequence of infectious complications (p less than 0.05), all of them suffering from severe injuries. These findings suggest that in acute trauma of the colon after less than 6 hours colostomy is justified when the CIS is III to V, the PATI more than 25, or in hemodinamically unstable patients.

Turcot syndrome. Autosomal dominant or recessive transmission?

The authors analyzed a family in which three descendants presented with adenocarcinoma of the colon. In two of them the presence of colonic adenomatosis was observed. Another family member, a 13-year-old girl, presented with Turcot syndrome, that is, brain tumor associated with colonic adenomatosis. The nature of the hereditary transmission of Turcot syndrome is hence analyzed, discussing whether it happens through an autosomal recessive or a dominant gene. Undoubtedly the family has colonic adenomatosis, a disease considered of autosomal dominant transmission. Based on the clinical observation, the authors suggest that Turcot syndrome may be determined by an autosomal gene with a pleiotropic effect and variable expressivity.

Colangiografia transparieto-hepatica: observacoes sobre 88 casos. / Percutaneous transhepatic cholangiography: observations of 88 cases

Foram analisados os resultados da colangiografia transparieto-hepatica, pelo metodo de puncao as cegas, em 88 pacientes ictericos, que apresentavam clinica de obstrucao biliar e em alguns casos havia duvida sobre a natureza da ictericia. O exame foi positivo em 86,3% dos casos, tendo ocorrido 9% de complicacoes, sem mortalidade. Deu-se especial enfase a avaliacao quantitativa dos resultados e suas correlacoes com aspectos clinicos e anatomo-patologicos. Da experiencia relatada, concluiu-se: 1. O hepatocoledoco esteve mais dilatado nas obstrucoes malignas que nas coledocolitiases, sendo fortemente sugestivo da primeira condicao o encontro de dilatacao superior a 30 milimetros. 2. Nao se encontrou aumento apreciavel da dilatacao ductal, a partir da quarta semana de evolucao da ictericia. 3. Verificou-se um maior angulo entre o hepatocoledoco e a coluna vertebral nos casos acometidos de obstrucao neoplasica, sugerindo desvio medial e cefalico da via biliar, decorrente do crescimento tumoral. 4. De uma maneira geral, a colangiografia transparieto-hepatica revelou indices satisfatorios de exequibilidade e de esclarecimento quanto ao local e provavel natureza da lesao biliar, contribuindo significativamente para o planejamento do tratamento cirurgico. Vale ressaltar, todavia, que as puncoes negativas nao indicaram necessariamente a inexistencia de obstrucao extra-hepatica da via biliar