Gastric Schwannoma: A Rare Cause of Gastric Bleeding.

Gastric schwannomas and gastrointestinal stromal tumors (GISTs) are two types of mesenchymal tumors, which represent a group of rare tumors of the gastrointestinal tract. The differential diagnosis between these two tumors is difficult given their very similar appearance and clinical features. The authors present a case of a 63-year-old man with melena and epigastric pain.

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.

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.

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.

(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.

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.

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.

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.

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.

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.

[Pleuroamniotic shunting--case report].

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.