Chromosomal assignment of 46 brain cDNAs.

Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have developed a procedure for the rapid chromosomal assignment of these ESTs: cDNA sequences are first analyzed by a computer program to determine regions likely not to be interrupted by introns in the genomic DNA.

Transvaginal intra-abdominal impalement injury.

Impalement injuries due to sexual activity are highly unusual and variable. We have described a case of transvaginal impalement injury of the rectum, bladder, omentum, and mesentery manifested by vaginal bleeding. The patient could not recount how she had been injured.

The Harvard Trauma Questionnaire. Validating a cross-cultural instrument for measuring torture, trauma, and posttraumatic stress disorder in Indochinese refugees.

There are no valid and reliable cross-cultural instruments capable of measuring torture, trauma, and trauma-related symptoms associated with the DSM-III-R diagnosis of posttraumatic stress disorder (PTSD). Generating such standardized instruments for patients from non-Western cultures involves particular methodological challenges. This study describes the development and validation of three Indochinese versions of the Harvard Trauma Questionnaire (HTQ), a simple and reliable screening instrument that is well received by refugee patients and bicultural staff.

Percutaneous delivery of low-level laser energy reverses histamine-induced spasm in atherosclerotic Yucatan microswine.

Background: Previous in vitro experiments performed in our laboratory have shown that low-level laser energy may produce prompt reduction in isometric tension of vascular smooth muscle. The present study was designed to extend these previous in vitro findings to an in vivo model and thereby investigate the hypothesis that laser light delivered percutaneously in vivo could successfully reverse arterial spasm.

Methods And Results: Spasm defined as greater than 50% reversible reduction in luminal diameter persisting for greater than or equal to 5 minutes was successfully provoked by injection of histamine (100-400 micrograms/kg) in 13 arteries among 10 atherosclerotic Yucatan microswine; the magnitude of histamine-induced vasoconstriction was then documented angiographically by repeated injections of contrast media for as long as 30 minutes (controls).

Evidence implicating nonmuscle myosin in restenosis. Use of in situ hybridization to analyze human vascular lesions obtained by directional atherectomy.

Background: Identification of genes that are specifically activated in restenosis lesions after percutaneous transluminal angioplasty represents a necessary step toward molecular manipulation designed to inhibit cellular proliferation responsible for such lesions. Whereas quiescent smooth muscle cells (contractile phenotype) preferentially express smooth muscle myosin, proliferating smooth muscle cells (synthetic phenotype) have been shown to preferentially express nonmuscle myosin in vitro. Accordingly, we analyzed the expression of a recently cloned isoform of human nonmuscle myosin heavy chain (MHC-B) in fresh human restenotic lesions.

Human cortical neuronal cell line (HCN-1): further in vitro characterization and suitability for brain transplantation.

The human neuronal cell-1 (HCN-1) line has recently been established. Under favorable conditions, these cells differentiate into mature neuronal phenotypes. Here we report on further characterization of these cells.

Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.

Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts of Southeast Asia. The ovalocytic erythrocytes are rigid and resistant to invasion by various malarial parasites. We have previously found that the underlying defect in SAO involves band 3 protein, the major transmembrane protein, which has abnormal structure and function.

Ischemic compression paresthesias in Guillain-Barré syndrome.

An experiment in nine patients tested the similarities and interactions between the paresthesias of Guillain-Barré syndrome (GBS) and tourniquet-induced compression paresthesias. During brachial compression, GBS paresthesias diminished in five of seven patients and new paresthesias occurred in two patients with purely motor GBS. Beginning 1 to 4 minutes after release of the cuff, all patients had new paresthesias, distinguishable from GBS symptoms.

Pulmonary hyalinizing granuloma presenting as multiple cavitary calcified nodules.

We describe a patient with PHG who presented with multiple cavitary calcified nodules. Laboratory evaluations revealed that she had serum immune abnormalities, and a histoplasmin skin test yielded positive results. Her Histoplasma infection may have produced a hyperimmune reaction that resulted in PHG and the calcified nodules.

Clinicopathologic correlation in a case of pupillary dilation from cerebral hemorrhage.

A patient who developed pupillary dilation on the side of a large cerebral hemorrhage underwent serial examinations, computed tomography, and magnetic resonance imaging. Autopsy dissection was performed to allow in situ examination of the structures near the third nerves and tentorial edge. The origin of the oculomotor nerve was displaced medially, causing the distal nerve to "kink" over the clivus just posterior to the clinoid.

Clinical issues related to discontinuing digoxin therapy in elderly nursing home patients.

Digoxin is commonly used to treat congestive heart failure. Digoxin augments ventricular systolic performance, but does not benefit patients whose congestive heart failure is caused by poor diastolic function. We studied 47 elderly nursing home patients who were receiving long-term digoxin therapy.

Three-dimensional reconstruction of human coronary and peripheral arteries from images recorded during two-dimensional intravascular ultrasound examination.

Background: Intravascular ultrasound provides high-resolution images of vascular lumen, plaque, and subjacent structures in the vessel wall; current instrumentation, however, limits the operator to viewing a single, tomographic, two-dimensional image at any one time. Comparative analysis of serial two-dimensional images requires repeated review of the video playback recorded during the two-dimensional examination, followed by a "mind's eye" type of imagined reconstruction.

Methods And Results: Computer-based, automated three-dimensional reconstruction was used to generate a tangible format with which to assess and compare a "stacked" series of two-dimensional images.

Obesity as a predictor of severity in acute pancreatitis.

In order to determine whether the presence of obesity, defined as increased body mass index, would serve as a predictor of severity in acute pancreatitis, we have reviewed the medical records of 27 patients with severe acute pancreatitis. All patients had at least four positive Ranson's signs; all but three patients had at least five Ranson's signs. When the 13 patients with a fatal outcome were compared with the 14 who lived, neither obesity nor respiratory failure was an independent predictor of death.

Serologic evidence of Campylobacter jejuni/coli enteritis in patients with Guillain-Barré syndrome.

We performed serologic testing for Campylobacter jejuni in 17 consecutive patients with acute Guillain-Barré syndrome from the Boston, Mass area to compare the frequency of this preceding infection with the high rates reported from other areas of the world. The rate of seropositivity, 18%, was considerable, but it was lower than that reported in Australia. Moreover, all of our patients with definite serologic evidence of infection had severe enteritis before Guillain-Barré syndrome, usually with the organism cultured from stool samples.

ATP-dependent control of steady-state cytosolic calcium in cultured gastric smooth muscle.

The regulation of intracellular calcium uptake and release in cultured gastric smooth muscle cells was studied in saponin-permeabilized cells derived from the rabbit antrum. Cells were studied in an ATP-regenerating medium in which the value of the ATP-to-ADP ratio was fixed by variation of the relative concentrations of creatine and creatine phosphate in the presence of a constant concentration of adenine nucleotides and creatine kinase. Free calcium in the medium was measured through the use of the fluorescent probe fura-2.

Sarcoid peripheral neuropathy.

We studied 10 patients with sarcoidosis and peripheral neuropathy. Six had a subacute or chronic axonal sensorimotor neuropathy without cranial neuropathy, beginning months to years after established systemic sarcoidosis. One patient had severe enough diaphragmatic weakness to require mechanical ventilation.

Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp resulting in increased amounts of a 74-kD peptide. The molecular basis of this disorder is heterogeneous and mutations in codons 28, 46, 48, and 49 (codons 22, 40, 42, and 43 in the previous nomenclature which did not include the six NH2-terminal amino acids) have been reported. In this study we present data on seven unrelated HE Sp alpha I/74 kindred from diverse racial backgrounds in whom we identified four different mutations all occurring in exon 2 of alpha Sp at codon 28.

Erythropoietin enhances the assembly of alpha,beta spectrin heterodimers on the murine erythroblast membranes by increasing beta spectrin synthesis.

Previous biosynthetic studies have revealed that in both mammalian and chicken erythroid cells, alpha spectrin is synthesized in 2-3-fold excess over beta spectrin. However, in the membrane skeleton, the two polypeptides are assembled in equimolar amounts, suggesting that the association of alpha spectrin with the membrane skeleton is rate-limited by the amount of beta spectrin synthesized. Here we have analyzed the synthesis and transcription of alpha and beta spectrin in Friend virus-infected murine erythroblasts (FVA cells) in vitro during the erythropoietin-dependent period of maturation.