Bilateral cerebellopontine angle tumors in neurofibromatosis type 2

In a series of over 500 cases of cerebellopontine angle tumors, 19 patients had bilateral neurinomas. Four of these tumors arose from the facial rather than the acoustic nerve. A conservative policy regarding surgery had been adopted in an effort to prevent hearing loss for as long as possible. Nevertheless, all patients operated on in this series are now totally deaf. The results of managing these patients surgically and conservatively are discussed.     

ALS and SAD-like nicotinic acetylcholine receptor subunit genes are widely distributed in insects

Segments of nicotinic acetylcholine receptor α sub-unit genes have been isolated from a panel of insect species by polymerase chain reaction, using degenerate oligonucleotide primers designed to recognize conserved regions of the Drosophila melanogaster ALS and SAO genes. The amplified segments encode elements of typical a-subunits anticipated to play roles in ligand binding and ion channel formation. Each is also clearly either ALS or SAD-like. The predicted protein sequences display extremely high levels of conservation (over 85% for each subtype) even though derived from very distantly related insect species.     

Acute renal failure in bone marrow transplantation.

Acute renal failure (ARF) is a serious complication in clients who have undergone bone marrow transplantation (BMT). The majority of cases develop as a result of intrarenal damage. Renal ischemia or nephrotoxic drugs, free hemoglobin, and free myoglobin contribute to acute tubular necrosis (ATN), which is the most likely cause of ARF in BMT clients. Nursing care of hospitalized BMT clients is directed toward the prevention of ARF by identifying clients who are at risk, the early diagnosis of renal impairment, and the administration of comprehensive treatment. Nurses play a vital role in the early diagnosis of renal impairment by assessing the client's fluid status, serum and urine electrolyte levels, and daily weights. The nursing role in managing clients with ARF includes preventing drug nephrotoxicity, maintaining fluid and electrolyte balance, preventing infection, and providing emotional support.     

Influence of menstrual cycle, parity and oral contraceptive use on steroid hormone receptors in normal breast.

Steroid receptor was assessed immunohistochemically in 158 samples of normal breast for variation through the menstrual cycle. Patterns and intensity of reaction were used in a semi-quantitative scoring system to examine the influence of cycle phase, cycle type, parity and age. The changes in oestrogen receptor for natural cycle and oral contraceptive (OC) cycles indicated down-regulation by progestins. Progesterone receptor did not vary significantly in natural cycles, but increased steadily through OC cycles. This study provides strong evidence that both oestrogen and progesterone influence breast epithelium, but dissimilarities from the endometrium are apparent. The interval since pregnancy had a significant negative effect on frequency and score of oestrogen receptor and score of progesterone receptor. Multivariate analysis established the phase of cycle and OC use as independent significant influences on oestrogen receptor. The interval since pregnancy was an independent significant factor for both oestrogen and progesterone receptor presence.     

Training in élite young athletes (the Training of Young Athletes (TOYA) Study): injuries, flexibility and isometric strength.

Using a mixed longitudinal design, the incidence of injuries, and the development of flexibility and isometric strength of the upper and lower limbs were studied for 2 years in 453 élite young athletes (aged between 9 and 18 years) practising football, gymnastics, swimming or tennis. The children suffered from a low incidence of injuries. Strength and flexibility did not exert a significant role in determining injuries. The rate of injury was not significantly different between the 2 years of the study. Young swimmers showed a greater generalized flexibility. Girls were more flexible than boys between the ages of 13 to 16 years. Athletic children are able to exert greater isometric strength than normal schoolchildren. Boys diverged from the normal population at 14 years, while athletic girls were stronger at all ages. Girls were stronger than boys up to age 12, who were still increasing their muscle strength at 19 years. The average maximal isometric strength exerted in both upper and lower limbs in the four sports was not significantly different. Male gymnasts over 11 years old were significantly stronger than all other athletes.     

Bremsstrahlung imaging using the gamma camera: factors affecting attenuation.

Quantitative imaging of bremsstrahlung from pure beta emitters is proposed as a means for in vivo management of antibody therapy. The method involves the use of high-energy collimation, an empirically selected broad photon energy window to enhance detector sensitivity, and a Wiener restoration filter to compensate for system blur. The measured and filtered data were obtained for an idealized scattering medium and isolated spherical sources. An effective linear attenuation coefficient of about 0.13 cm-1 was determined from the raw image data of 32P. A coefficient of 0.14 cm-1 was determined after the images were restored using the Wiener filter. The measured attenuation was not significantly dependent on the size of the region of interest or the size of the source. Its variation was within the experimental error of measurement (+/- 5%). The measured sensitivity (6 x 10(-6) cps/Bq) was sufficient for imaging therapy doses of 32P or 90Y.     

Differential modulation of Purkinje cell activity by enkephalin and corticotropin releasing factor.

Several peptides have been localized within afferents to the opossum's cerebellum, including cholecystokinin (15), enkephalin (16, 17) and corticotropin releasing factor (7, 9). Each of these peptides has a heterogeneous laminar and lobular distribution. Two peptide, enkephalin (ENK) and corticotropin releasing factor (CRF) are present in specific populations of climbing fibers and mossy fibers, which have an overlapping distribution in several areas of the cerebellum, in particular the lateral aspect of vermal lobules VII and VIII. Within this location ENK and CRF are co-localized in individual climbing fibers and mossy fibers (7). In the present study, the physiological effects of these peptides on Purkinje cell activity were analyzed. The data indicate that ENK and CRF have opposite effects on Purkinje cell activity. ENK suppresses spontaneous activity as well as that induced by application of glutamate and aspartate, as described previously (5). In contrast, CRF enhances both spontaneous and amino acid-induced unit activity. Further, when applied simultaneously, CRF blocks the suppressive effect induced by ENK. Previous studies have shown that climbing fibers, as well as the mossy fiber-parallel fiber pathway, are excitatory to Purkinje cells (11). However, immunohistochemical data have shown that these afferents are heterogeneous with respect to their chemical content (7-9, 15-17, 25). As found in the current and previous studies (3, 5) peptides in climbing and mossy fibers modulate the responsiveness of Purkinje cells to primary excitatory neurotransmitters in selected areas of the cerebellar cortex. However, the firing rate of individual Purkinje cells is differentially altered depending on which neurochemical messenger(s) are released.(ABSTRACT TRUNCATED AT 250 WORDS)     

Association and linkage with quantitative traits

This paper examines two approaches for the analysis of quantitative traits: (1) association studies and (2) linkage studies. The trait studied was Q1 from simulated Problem 2 data set in Genetic Analysis Workshop 9. Our purpose was to evaluate associations present in the data, to identify nongenetic and genetic predictors of the trait, and to explore the simulated genome for linkage. Through the association study, we found evidence for the primary major gene associated with this trait. The linkage study found evidence of residual genetic effect acting through other traits. Adjustments of Q1 for Q2 and Q3 led to a failure to find significant effects of MG2 and MG3. This supports the suggestion that adjustment for genetically influenced traits for effects of other genetic traits can reduce the power to detect major gene effects. In summary, we detected the major gene directly associated with the trait of interest through association studies. Linkage analysis detected evidence for two other genes associated to a lesser degree with the trait. © 1995 Wiley-Liss, Inc.