Intussusception secondary to Meckel's diverticulum detection with Tc-99m monoclonal antibodies to granulocytes (Leukoscan).

A case of Meckel's diverticulum causing intussusception in an 8-year-old boy is presented. The Meckel's diverticulum was detected by using a Tc-99m-labeled antigranulocyte monoclonal antibody MN3 (Leukoscan; Immunomedics, Morris Plains, NJ), which is under clinical evaluation for the detection of atypical appendicitis at the authors' institution. Pathologic evaluation confirmed Meckel's diverticulitis with ileal-ileal intussusception.

Fine needle aspiration of the pancreas. In quest of accuracy.

Percutaneous fine needle aspiration (FNA) is the diagnostic method of choice for patients with a pancreatic mass. A positive cytologic diagnosis allows administration of neoadjuvant therapy in patients with resectable disease and avoids laparotomy in patients with locally advanced or metastatic disease. Ninety patients underwent computed tomographically guided FNA of the pancreas, and the results were compared to the final histologic diagnosis. The initial sensitivity for diagnosis of pancreatic adenocarcinoma was 70%. To improve our diagnostic accuracy, 19 independent cytologic criteria were evaluated for each case. Multivariate logistic-regression analysis identified three major criteria (nuclear crowding and overlapping, nuclear contour irregularity, irregular chromatin distribution) and four minor criteria (nuclear enlargement, single epithelial cells, necrosis, mitoses) as the most important predictors of malignancy. In the presence of two or more major or one major and three minor criteria, the sensitivity and specificity for the diagnosis of pancreatic adenocarcinoma were 100%. Objective application of these criteria improved our diagnostic sensitivity to 90%.

Quantitative determination of particle concentrations in experimental and marine environmental samples.

As the application of flow cytometry increases across the environmental sciences, there is a need to expand instrument flexibility. In particular, some of the major applications within aquatic research demand an ability to quantify the particles under investigation, expressing them as numbers per unit of sample volume. Two of the principal areas of flow cytometric investigations are the characterisation of naturally occurring particulate assemblages in the oceans and investigations into the feeding behaviour of "filter feeding" organisms on the mixtures of such particles. In both cases some of the most useful data derived from flow cytometry require that analyses be determined in terms of particle concentrations. Therefore, a simple and practical modification is described, which allows known sample volumes to be analysed on flow cytometers. The method has a high degree of flexibility in sample volume and is cost effective and reliable. It involves introducing a standard chromatography "loop injection valve" into the sample-handling fluidics system. Use of fluorescent beads shows that a range of particle sizes and concentrations can be used with this system. Tests, also using fluorescent beads and an algal culture, show that replicate 100 microliter sample volumes can be analysed and counted with a coefficient of variation of less than 3%.

Immunotyping of lymphoma by fine-needle aspiration. A comparative study of cytospin preparations and flow cytometry.

Immunotyping is an essential adjunct to cytomorphology for the diagnosis of lymphoma by fine-needle aspiration (FNA). Two independent techniques, cytospin preparations and flow cytometry, were used for immunotyping studies on 71 patients with histologically confirmed non-Hodgkin's lymphoma (63 B-cell lymphomas and 8 T-cell lymphomas). Diagnostic concordance between the two methods was obtained in 69 patients (97%). kappa, lambda, and CD3 (Leu-4) markers were routinely measured on all cytospins, and additional markers were requested when indicated. The standard panel measured by flow cytometry included 14 markers. In general, mean values of light-chain (kappa and lambda) immunoglobulins were consistently slightly higher by cytospin analysis than by flow cytometry. Light-chain immunoglobulin ratios (kappa/lambda or lambda/kappa) obtained by both methods proved to be reliable independent predictors of polyclonality or monoclonality. Correlation studies using the Spearman rank coefficient revealed good concordance among values of kappa, alpha, CD3, and CD5 obtained by the two techniques, suggesting that subjective quantitation by cytospins yields similar results to objective quantitation by flow cytometry. Cytospin analysis and flow cytometry appear equally capable of immunotyping aspirated lymphoid samples reliably. The advantages of each method are discussed.

Clinical and molecular analyses of deletion 3p25-pter syndrome.

Hemizygous deletion of 3p25-pter is associated with a phenotype of profound growth failure, microcephaly, characteristic facial changes, and mental retardation. Since the severity may be quite variable, we have studied 3 cases of del 3p25-pter to define the clinical manifestations and the critical chromosome region for phenotypic expression. The patient we now report died at age 6 months and provided an opportunity for a detailed necropsy analysis for only the second time in a del(3p) patient. He had marked hypoplasia of all organs, hypomyelination of white matter, and multiple renal cortical microcysts. Ordered genomic markers from the distal regions of chromosome 3p aided in determining the parent of origin of each deletion and in defining the boundaries of the deleted chromosomal segments. The deleted markers distal to the RAF1 oncogene in 2 of the 3 patients were consistently hemizygous. One patient had an interstitial deletion based on evidence of diploid inheritance of one of the most distal loci (D3S17). Available genetic linkage maps suggest that the deletion spans at least 19 centimorgans (cM).

Barrett's esophagus in a newborn.

We describe Barrett's esophagus occurring in a 3-week-old male. The finding of columnar cell-lined lower esophageal epithelium in the presence of gastroesophageal reflux supports the theory of an acquired phenomenon and suggests that the metaplastic process may have begun in the perinatal period.

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations.

Five matings to a dir ins (6;2)(q16;q31q33) carrier have produced a high frequency (42%) of offspring with unbalanced karyotypes. Five children have the derivative chromosome 2 resulting in del (2)(q31q33) and one individual received the derivative chromosome 6 leading to dup (2)(q31q33). The findings associated with the deletion include pre- and postnatal growth retardation, developmental delay, minor facial anomalies, seizures, complex structural heart defects, and limb deficiency. Autopsy of one individual showed complex brain malformations including hydrocephalus secondary to obstruction of the foramina of Monro, extensive heterotopias and polymicrogyria, and an unusual form of total anomalous pulmonary venous return. We compare the findings in these children to those of previously reported cases and construct an overview of the range of anomalies. Apparently, no other individual with dup (2)(q31q33) has been described. We compare the physical peculiarities of our patient with those of individuals with duplications of overlapping regions of 2q.

"Marden-Walker syndrome": neuropathologic findings in two siblings.

Neuropathologic examination of two siblings with phenotypic features consistent with Marden-Walker syndrome revealed central nervous system abnormalities which include reduction in the number of spinal anterior horn cells. The occurrence of these changes in a sibling pair provides strong evidence for a genetic etiology. The relationship between the neuropathologic changes and other phenotypic manifestations in this syndrome and in the closely related syndrome of Pena-Shokeir are discussed.

Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.

We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.