Hemoperitoneum secondary to mesenteric laceration after abdominal trauma - Case report.

Mesenteric laceration is an uncommon cause of hemoperitoneum, with nonspecific signs and symptoms and frequently is camouflaged by the signs of other traumatic lesions. There is a high risk to go unnoticed increasing morbidity and mortality. We report a case of a 43-year-old man, who was involved in a motorcycle accident, with thoraco-abdomino-pelvic trauma, but without evidence of intra-abdominal lesions on exams, with exception of hemoperitoneum. Due to hemodynamic instability, it was performed an exploratory laparotomy. Intraoperative findings were mesenteric lacerations affecting a small bowel segment. This case demonstrates that a high index of suspicion is necessary to diagnose and treat lesions like mesenteric laceration, not visible early on imaging but potentially fatal, with high risk of complications.

Accuracy of Corneal Thickness by Swept-Source Optical Coherence Tomography and Scheimpflug Camera in Virgin and Treated Fuchs Endothelial Dystrophy.

PURPOSE: To assess intraobserver repeatability, intersession reproducibility, and agreement of swept-source Fourier-domain optical coherence tomography (SS-OCT) and the Scheimpflug camera in measuring corneal thickness in virgin and grafted eyes with Fuchs endothelial corneal dystrophy (FECD). METHODS: Thirty-six control eyes, 35 FECD eyes, 30 FECD with corneal edema eyes, 25 Descemet stripping automated endothelial keratoplasty (DSAEK) eyes, and 29 Descemet membrane endothelial keratoplasty (DMEK) eyes were included. The apical center, pupillary center, and thinnest corneal thickness were determined in 3 consecutive images and repeated 2 weeks later. Repeatability and reproducibility coefficients, intraclass correlation coefficients, and 95% limits of agreement (LOA) between measurements were calculated. Agreement between devices was assessed using Bland-Altman analysis. RESULTS: Corneal thickness measurements were highly reproducible and repeatable with both systems. SS-OCT showed better repeatability in all corneal locations in the normal, FECD, FECD with edema, DSAEK, and DMEK groups (coefficient of variation ≤0.60%, ≤0.36%, ≤0.43%, ≤1.09%, and ≤0.48%, respectively) than the Scheimpflug (coefficient of variation ≤1.15%, ≤0.92%, ≤1.10%, ≤1.25%, and ≤1.14%, respectively). Between-session 95% LOA for SS-OCT was less than 3% for all groups except for the FECD with edema group, being almost double using the Scheimpflug camera. Differences between instruments were statistically significant in all groups and locations (P < 0.01) except in the DSAEK group (P ≤ 0.51); however, SS-OCT underestimated all measurements. CONCLUSIONS: SS-OCT provides better reproducible and repeatable measurements of corneal thickness than those obtained with the Scheimpflug camera in patients with FECD or an endothelial transplant. Variations between examinations higher than the 95% LOA observed in our study should raise awareness of changes in the endothelial function.

Ruptura esplênica secundária à infeção por Plasmodium falciparum / Splenic rupture secondary to Plasmodium falciparum infection

A ruptura esplênica é uma complicação possível da malária. É importante pela dificuldade diagnóstica, pois um elevado índice de suspeição é necessário para um diagnóstico atempado. Pode condicionar uma hemorragia intraperitoneal e deve ser considerada no diagnóstico diferencial de quadros de dor abdominal, hipotensão e diminuição do hematócrito. Os autores descrevem o caso de um homem de 59 anos, com ruptura esplênica secundária à malária por Plasmodium falciparum, tendo realizado esplenectomia urgente. Com a apresentação do caso, os autores pretendem chamar a atenção para a necessidade de incluir esta afecção no diagnóstico diferencial dos doentes com malária e hipotensão refractária.

Splenic rupture is a possible complication of malaria. Due to its difficult diagnosis, it is important, because a high level of suspicion is needed for a timely diagnosis. It results in intraperitoneal bleeding and should be considered in the differential diagnosis of abdominal pain, hypotension and low hematocrit. The authors report the case of a 59-year old man with splenic rupture secondary to malarial infection by Plasmodium Falciparum, who was treated with urgent splenectomy. This case is presented to remind the clinicians of include this entity in the differential diagnosis of patients with malaria and refractory hypotension.

Trichobezoar - A Rare Cause of Abdominal Mass and Gastric Outlet Obstruction.

The authors present the clinical case of a 14-year old girl with weight loss, anorexia, epigastric abdominal pain and postprandial vomiting with 5 months duration. There was a background of trichophagia for 2 years without evidence of alopecia or psychiatric history. The physical examination revealed an epigastric mass motionless, stony, with poorly defined limits, painful on palpation and about 7 cm diameter. Abdominal ultrasonography showed thickening of the gastric wall and antrum with gastric distension. The abdominal tomography scan and endoscopic examination revealed the presence of a bulky trichobezoar occupying almost the entire gastric lumen. It was decided to undergo gastrotomy and extraction of the bezoar. The postoperative period was uneventful.

Apresentamos o caso clínico de uma adolescente de 14 anos com emagrecimento, anorexia, epigastralgia e vómitos pós-prandiais com 5 meses de evolução. Apurou-se história de tricofagia com 2 anos de evolução mas sem áreas de alopécia ou antecedentes psiquiátricos. Apresentava massa epigástrica imóvel, pétrea, de limites mal definidos, dolorosa à palpação e com cerca de 7 cm de diâmetro. A ecografia abdominal mostrou espessamento da parede gástrica e do antro com distensão gástrica. Realizou tomografia abdominal e endoscopia digestiva alta que revelaram a presença de volumoso tricobezoar ocupando quase a totalidade do lúmen gástrico. Foi decidido realizar gastrotomia e extração do bezoar. O pós-operatório decorreu sem incidentes.

Neuro-Behçet, pseudotumor cerebri and ocular signs: a rare association.

INTRODUCTION: The central nervous system involvement in Behçet's disease occurs in 5-30% of cases. The diagnosis of pseudotumor cerebri is even rarer (only 22 cases reported worldwide). PURPOSE: To emphasize the importance of differential diagnosis in a case of pseudotumor cerebri in the context of ocular inflammation. METHODS: V.A.V.R., a 31 year old female, was diagnosed with pan-uveitis on the left eye associated with recurrent bipolar aphthosis. During the etiological investigation, there was an onset of a left hemiparesis and facial palsy. RESULTS: The central nervous system (CNS) neuroradiological investigation revealed a space-occupying lesion within the right hemisphere with intense signal enhancement with gadolinium. It globally reached the nucleo-basal structures and induced deviation of the middle structures (including homolateral ventricle). Cytochemical analysis of cerebrospinal fluid (CSF) was negative for atypical cells. The ophthalmological features regressed with the corticosteroid and immunosuppressive therapy instituted. The final diagnosis was of pseudotumor cerebri in the context of Behçet's disease. CONCLUSION: In Behçet's disease, a cerebral space-occupying lesion should lead to a diagnosis of pseudotumor cerebri. The correct diagnosis will determine an appropriate therapy and may prevent an inappropriate neurosurgical approach. The cortico and immunotherapy allowed a substantial regression of the lesion.

Avaliação do potencial das formigas como vetores mecâncios de micobactérias em hospital especializado na assistência de pacientes de tuberculose no Estado de São Paulo / Evaluation of ants as potential mechanical vectors of mycobacteria in a hospital specializing in assistance to TB patients, the state of São Paulo

Introdução - A urbanização desencadeia inúmeros transtornos, como a disseminação de artrópodes e, conseqüentemente, de doenças veiculadas pelos mesmos. As formigas são muito adaptáveis e se beneficiam com a convivência humana. Nos hospitais, elas podem ser vetores mecânicos de inúmeras bactérias, e a diversidade de espécies encontradas nestes ambientes, causam preocupação pelo risco potencial à saúde pública. O aumento das infecções hospitalares envolvendo micobactérias ambientais, com surtos no Brasil entre 1998 a 2009 em 23 estados alarmou os órgãos e profissionais de saúde pública. Objetivos - Avaliar o potencial de formigas como vetores de micobactérias em um hospital especializado no atendimento de doentes com tuberculose. Métodos - Foram realizadas seis coletas de formigas em diferentes áreas do hospital no período de 2009 a 2010, que foram semeadas em meios de cultura de Lõwenstein-Jensen e de Stonebrink para isolamento de micobactérias. As culturas sugestivas foram submetidas à coloração de Ziehl-Neelsen para bacilos álcool-ácido resistentes e identificação por métodos moleculares (PRA para o gene hsp65 com o par de primers TB11 e TB12 gênero-específico e sequenciamento genético do DNA). Resultados - Do total de 247 amostras de formigas coletadas e semeadas, 70 por cento das formigas pertenciam à espécie Tapinoma melanocephalum, 25 por cento a espécie Dorymyrmex sp., 3 por cento a espécie Camponotus sp. e 2 por cento a espécie Pheidole sp., dados similares foram observados anteriormente em pesquisas realizadas em hospitais. Quinze amostras apresentaram bacilos álcool-ácido resistentes de crescimento rápido. Nos métodos moleculares, doze pertenciam ao Gênero Mycobacterium. No PRA-hsp 65, e no sequenciamento genético do DNA, quatro amostras foram identificadas quanto à espécie (duas Mycobacterium chelonae, uma Mycobacterium parafortuitum e uma Mycobacterium murale), quatro micobactérias com resultados idênticos no PRA e não identificadas no sequenciamento foram sugestivas de uma nova espécie, e duas amostras não foram identificadas. Mycobacterium chelonae isolada nesta pesquisa foi previamente descrita como agente causador de abscessos em humanos. Conclusão - Estes dados confirmam a presença de micobactérias veiculadas por formigas no ambiente hospitalar, representando um potencial vetor mecânico destas para pacientes e profissionais de saúde, principalmente em infecções nosocomiais.

(1)H NMR based metabonomics of human amniotic fluid for the metabolic characterization of fetus malformations.

An NMR-metabonomic study of malformed fetuses was carried out through human amniotic fluid (HAF) analysis. Over 70 compounds were detected in control HAF by NMR. Possible confounding variables (fetus gender and gestational and maternal ages) were shown not to induce detectable compositional trends in the control group considered. Malformed fetuses showed variations in glucose, some amino acids and organic acids and proteins. In tandem with enzymatic assays, these NMR results suggest that changes in gycolysis and gluconeogenesis as well as kidney underdevelopment occur in the malformed fetuses studied here.

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.

Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy.

The metabolic profiling of human amniotic fluid (HAF) is of potential interest for the diagnosis of disorders in the mother or the fetus. In order to build a comprehensive metabolite database for HAF, hyphenated NMR has been used, for the first time, for systematic HAF profiling. Experiments were carried out using reverse-phase (RP) and ion-exchange liquid chromatography (LC), in order to detect less and more polar compounds, respectively. RP-LC conditions achieved good separation of amino acids, some sugars, and xanthines. Subsequent NMR and MS analysis enabled the rapid identification of 30 compounds, including 3-methyl-2-oxovalerate and 4-aminohippurate identified in HAF for the first time, to our knowledge. Under ion-exchange LC conditions, a different set of 30 compounds was detected, including sugars, organic acids, several derivatives of organic acids, and amino acids. In this experiment, five compounds were identified for the first time in HAF: D-xylitol, amino acid derivatives (N-acetylalanine, N-acetylglycine, 2-oxoleucine), and isovalerate. The nonendogenous nature of some metabolites (caffeine, paraxanthine, D-xylitol, sorbitol) is discussed. Hyphenated NMR has allowed the rapid detection of approximately 60 metabolites in HAF, some of which are not detectable by standard NMR due to low abundance (microM) and signal overlap thus enabling an extended metabolite database to be built for HAF.

Potential of NMR spectroscopy for the study of human amniotic fluid.

1D and 2D 800 MHz high-resolution nuclear magnetic resonance spectroscopy of human amniotic fluid (HAF) enabled the identification of approximately 50 metabolites. In addition, liquid chromatography-NMR and diffusion ordered spectroscopy (DOSY) allowed signal overlap to be reduced and the characterization of higher molecular weight (Mw) components, respectively. Indeed, the DOSY spectrum of a Mw >10 kDa HAF fraction enabled three protein families, differing in average Mw, to be detected and may therefore be of potential value in the study of disorder-related variations in HAF protein profiles. The effects of freeze-drying, storage at -20 or -70 degrees C, and freeze-thawing cycles on HAF compositional stability were investigated, as well as stability at room temperature (to account for overnight data acquisition runs). These data are the basis for establishing statistically validated correlations between HAF NMR data and any physiological disorders of the fetus/mother. Freeze-drying caused signal loss for urea, ethanol, and compounds resonating at 2.22 and 1.17 ppm. Storage at -70 degrees C or lower is recommended since only minor compositional changes were observed, affecting mainly acetate and pyruvate. Freeze-thaw cycles did not cause significant compositional changes, and room-temperature stability studies indicated a 4-5 h maximum period of handling/acquisition time to ensure HAF stability.

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype.

Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience.

OBJECTIVES: This is a retrospective study to evaluate the efficacy and accuracy of the multiplex polymerase chain reaction (PCR) amplification, for early detection of fetuses at risk for hemolytic disease, in the population living in Portugal, and to characterize the RhD-negative individuals at serologic and molecular level. METHODS: 2030 uncultured amniotic fluid samples and 2012 blood samples from the respective RhD-negative pregnant women were studied by multiplex PCR of intron 3/intron 4, exon 7 and 3'UTR. Amniocentesis was performed for a variety of medical indications. For quality control, serologic RhD blood groups were determined in the cord blood, after birth. RESULTS: 1361 fetal amniotic samples were RhD-positive (67%), 669 were RhD-negative. The average time for diagnosis was 2 days for uncultured amniocytes and the molecular versus serologic RhD typing (n = 809) had 99.5% concordance. Among the 2012 serologic RhD-negative mothers, 26 had an RhD-positive allele. CONCLUSION: The multiplex PCR amplification used in this study was a rapid and accurate method to determine the RhD blood type in the population living in Portugal, being a great tool for management of pregnancies with fetuses at risk for alloimmune hemolytic disease. In this population, 1.3% of the serologic RhD-negative women have an RHD-positive allele.

[Pleuroamniotic shunting--case report]. / Drenagem pleuro-amniótica.

Fetal hydrothorax refers to a collection of fluid within the fetal thorax that may be the result of chylous leak from the thoracic duct (primary hydrothorax) or generalized fluid retention associated with immune or no immune fetal hydrops (secondary hydrothorax). The authors' presents a case report occurred in 2002, of a pregnant woman that at 25 weeks' gestation that was referred to Maternidade Bissaya-Barreto-Coimbra because of a fetal hydrothorax at left, under tension and with cardiac decompensation signs. A fetal thoracocentesis was performed and the diagnosis was chylothorax. Because of a rapid reaccumulation of fluid a pleuroamniotic shunt was placed. The effusion and the cardiac decompensation signs regressed. The delivery was at 38 weeks' gestation. The newborn had been stable. Actually he has 10 months, is healthy and has a normal grow and development.