Immunological parameters in girls with Turner syndrome

Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X), thyroiditis being the most common.     

The role of CCK2 receptors in energy homeostasis: insights from the CCK2 receptor-deficient mouse

The present study explored the contribution of type 2 cholecystokinin (CCK) receptors in energy regulation. A total of 78 CCK2 receptor-deficient mice and 80 wild-type controls were acclimated to a 12:12 light-dark cycle at 30 +/- 1 degrees C. Using a computer-monitored biotelemetry system, circadian patterns of body temperature, food intake, and activity were monitored for 4 days. Body weight and water consumption were manually recorded during this period. Results indicate that CCK2 receptor invalidation produces elevated body temperature during both the photophase and scotophase (by 0.38 and 0.12 degrees C, respectively), increased body weight (29.3 +/- 0.2 vs. 26.8 +/- 0.2 g) and water consumption (4.1 +/- 0.1 vs. 3.2 +/- 0.1 ml), and decreased scotophase locomotor activity (WT: 7.0 +/- 0.2 vs. KO: 6.1 +/- 0.2 counts/min). These findings suggest an important role for CCK2 receptors in processes underlying energy regulation during basal and possibly pathological states.     

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy (XLDC) is a familial heart disease presenting in young males as a rapidly progressive congestive heart failure, without clinical signs of skeletal myopathy. This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been detected. In order to identify the defect responsible for this disease at the molecular level and to understand the reasons for the selective heart involvement, a family with a severe form of XLDC was studied. In the affected members, no deletions of the dystrophin gene were observed. Analysis of the muscle promoter, first exon and intron regions revealed the presence of a single point mutation at the first exon-intron boundary, inactivating the universally conserved 5' splice site consensus sequence of the first intron. This mutation introduced a new restriction site for MseI, which cosegregates with the disease in the analyzed family. Expression of the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje cell-promoters) was completely abolished in the myocardium, while the brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in the skeletal muscle. Immunocytochemical studies with anti- dystrophin antibodies showed that the protein was reduced in quantity but normally distributed in the skeletal muscle, while it was undetectable in the cardiac muscle. These findings indicate that expression of the muscle dystrophin isoform is critical for myocardial function and suggest that selective heart involvement in dystrophin- linked dilated cardiomyopathy is related to the absence, in the heart, of a compensatory expression of dystrophin from alternative promoters.      

Laboratory compliance with federal government and professional society recommendations

Quality assurance issues have assumed growing importance in the cytology laboratory. The 1988 Clinical Laboratories Improvement Amendment (CLIA '88) (United States Department of Health and Human Services, Federal Register: U.S. Government Printing Office 1990;55:9495) regulates the patient identifiers and clinical data on the requisition form but does not mandate physician compliance to provide the information. We investigated the use of patient identifiers and clinical data by laboratories as specimen acceptance/rejection criteria. We surveyed 81 board certified cytopathologists and 235 randomly selected cytology laboratories for acceptance criteria of cytology specimens and received responses from 104. Approximately two thirds of all responding laboratories had specific criteria for rejecting specimens on the basis of inadequate identification or clinical data. While the vast majority required the specimens to be identified with patient name, collection date, and specimen source, a minority of laboratories required clinical information such as LMP, prior atypical cytologic/histologic specimens, and history of previous therapy. Little correlation was found between practice setting and the use of rejection criteria. Diagn Cytopathol 1994; 11:85–92. © 1994 Wiley-Liss, Inc.     

Tropic effects of otic epithelium on cochleo-vestibular ganglion fiber growth in vitro

Sensory nerve fibers of the cochleo-vestibular ganglion (CVG) innervate the otic epithelium in the early chick embryo by directed growth. To see if the target tissue could exert a tropic influence, we co-cultured CVGs from chick embryos (Hamburger-Hamilton stages 16–30) in a 3D collagen matrix with their normal target epithelium or with other epithelial tissues taken from the same or different stages of development. The pattern of neurite outgrowth and the viability of the CVG after five days in vitro were assessed histologically with a silver method. On the basis of the patterns of neurite outgrowth directed toward the epithelium the cultures were classified as having slightly, mostly, exclusively, or no directed outgrowth. Of 49 cultures containing otic epithelium, 33 had mostly or exclusively directed growth patterns. This effect did not depend on any particular stage difference between co-cultures or on their viability in vitro. Cultures of non-sensory otic epithelium (endolymphatic duct) also presented directed growth patterns. Co-cultures with ectoderm from forelimb or visceral arch had little, if any, directed growth. The directed growth could not be explained simply as a result of guidance by non-neuronal cells or of the viability of the explants. The results are consistent with the hypothesis that the otic epithelium provides a tropic factor that attracts growing CVG fibers.     

Long-term anatomic fate of coronary-artery bypass grafts and functional status of patients five years after operation.

To assess long-term results, coronary and graft angiography was performed 53 to 84 months after operation in 22 of 30 consecutive patients who had undergone coronary-artery bypass grafting before 1973, and who had at least one graft patent at an early (three to nine months) postoperative study. Of the 33 grafts, 31 were patent at late study. All patients had severe symptoms before operation. Of 16 who became asymptomatic early after operation, angina pectoris later redeveloped in 11. Progression of disease in ungrafted vessels accounted for symptomatic deterioration in nine of these 11 patients. We conclude that most grafts patent several months after operation remain so for at least 4 1/2 years, and that although most patients improve symptomatically after operation, symptomatic deterioration is common in the succeeding years and is most often due to progression of disease in ungrafted vessels.     

The pattern of neurogenesis in the retina of the rat

Summary The morphological features of the retina of neonatal rats have been analyzed with the rapid Golgi method in an attempt to provide some embryological observations crucial to the study of neuronal specificity in the visual connections. The retinal neurons and photoreceptors form from primitive epithelial cells that assume the characteristics of neuroblasts. Initially they extend from the internal to the external limiting layers. There is no evidence of free cellular migration or of cells resembling the neuroblast of His. While their perikarya are situated deep within the matrix zone, the first signs of differentiation appear at the external and internal limiting membranes, where the receptor inner segments and ganglion cell axons begin to form. Subsequently the perikarya move through the primitive epithelial processes to the prospective outer nuclear or ganglion cell layers. In the receptor cells, this is accompanied by the differentiation of the rods and cones and of the receptor fibers. In the ganglion cells, the perikaryal translocation is followed by the differentiation of the dendrites and the internal plexiform layer. The amacrine and bipolar cells follow a similar sequence of changes. The receptor outer segments form in conjunction with the processes of pigmented epithelial cells; the differentiation of the ganglion cell dendrites occurs in association with the formation of the amacrine and inner bipolar processes. The amacrine and ganglion cells begin to differentiate first, followed closely by the receptor cells and the bipolar cells. Müller's cells and astrocytes differentiate last. Horizontal cells were not studied. There is a gradient of differentiation, such that the axons and dendrites of the ganglion cells near the optic nerve head differentiate earlier than those located more peripherally. The implications of the findings for the analysis of the mechanisms controlling growth, differentiation, and neuronal specificity in the visual system are discussed.Supported by U.S. Public Health Service Research Grant NS 06115 and GRS Grant 5 SOI FR 05381-08 to Harvard University.     

An Evaluation of Finger Pulse Volume as a Psychophysiological Measure of Anxiety

The present experiment explored the utility of finger pulse volume (FPV) as a measure of anxiety. Subjects were exposed to either a threatening or nonthreatening situation, and indices of physiological arousal (pulse rate (PR) and FPV) and self-report of anxiety (Affect Adjective Checklist (AACL)) were collected. Results indicated that FPV was responsive to changes in experimentally induced anxiety and significantly correlated with PR and AACL, although the strength of these relationships was not substantial. Relevance for psychophysiological theory and the clinical observation of anxiety is discussed.