Autosomal recessive acrorenal syndrome

We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far. © 1992 Wiley-Liss, Inc.     

The SCMC test: a reliable monitor for antispermatozoal antibodies

Seventeen couples (13%) were selected from a group of 129 infertilepatients according to the following criteria: (i) unexplainedinfertility for 3 years and (ii) <50% shaking spermatozoaduring SCMC testing. The couples were tested for sperm antibodiesafter a complete diagnostic work-up schedule. Post-coital testswere performed during the first menstrual cycle of the wife,followed by SCMC and sperm antibody titre testing. Ten malesand seven females were thus treated with 96 mg methylprednisolone.Nine (52%) of the 17 with sperm antibodies achieved a pregnancy.The results of the SCMC test were in all the cases indicativeof the actual sperm antibody titre. Reduction of the antibodytitre and a decrease in the percentage of shaking spermatozoaas detected by the SCMC test correlated well with the pregnancyrate amongst the patients.     

Primary respiratory syncytial virus infection in mice

A mouse model of respiratory syncytial virus (RSV) infection is described. A high-titered, large-volume inoculum results in replication of RSV to a high titer in lungs of BALB/c mice. Mice older than 15 weeks of age are more susceptible to RSV infection. Titers up to 10(6.9) plaque-forming units (pfu)/gram lung can be attained in 32-week-old mice. Older mice experience a clinical illness manifested by ruffled fur, reduced activity, and weight loss. Lung histology of older mice infected with RSV shows bronchiolitis and increased number of lymphocytes and macrophages in alveolar spaces compared with that of mice less than 8 weeks old. This model will serve as the basis for investigating immunodeterminants of recovery and protection from RSV infection.     

The cohen syndrome: Report of a case

Summary We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.     

SHORT COMMUNICATION: GIFT and IUI in the district general hospital

Recent reports on gamete intra-Fallopian transfer (GIFT) inhospitals without IVF support have been encouraging. We reporton the use of GIFT and intrauterine insemination (IUI) at NorthamptonGeneral Hospital, where capital costs for setting up the programmehave been low. To date seven IUI and three GIFT treatments havebeen completed, resulting in three IUI positive pregnancy tests.One miscarried after several positive -HCGs and one GIFT pregnancywas achieved.     

On the Shift from Anticipatory Heart Rate Deceleration to Acceleratory Recovery: Revisiting the Role of Response Factors

The influence of inducing motor responses of low and high force at different times in the cardiac cycle was examined. A handgrip response was used which allowed the separation of response initiation from response completion. Based on earlier work, we expected initiation, rather than completion, to initiate poststimulus cardiac acceleration. We also thought that preparation for a high force response might alter preparatory changes of interbeat interval differently from preparation for a low force response. Fifteen college-aged male subjects performed a warned reaction time task in which a visual stimulus signalled a handgrip requiring either a high or a low force to close. NoGo trials in which an inhibit signal was presented occurred on 12% of the trials. Stimuli occurred either on the R-wave of the electrocardiogram or 300 ms later. Reaction speed was varied in different trial blocks by rewarding response times of 200 ms (+/- 50 ms), 300 ms, or 400 ms. Results based on the timing of response initiation were essentially identical to those based on the timing of response completion. High force relative to low force was associated with both earlier response initiation and earlier cardiac acceleration. Force did not alter preparatory cardiac deceleration. Force and response speed did, however, alter the level of heart rate after response occurrence. Thus, response initiation (or an earlier response process) appears to induce a cardiac acceleration whose level is influenced by the speed and force of the motor response.     

Functional expression and properties of the human skeletal muscle sodium channel

Full-length deoxyribonucleic acid, complementary (cDNA) constructs encoding the-subunit of the adult human skeletal muscle Na⁺ channel, hSkM1, were prepared. Functional expression was studied by electrophysiological recordings from cRNA-injectedXenopus oocytes and from transiently transfected tsA201 cells. The Na⁺ currents of hSkM1 had abnormally slow inactivation kinetics in oocytes, but relatively normal kinetics when expressed in the mammalian cell line. The inactivation kinetics of Na⁺ currents in oocytes, during a depolarization, were fitted by a weighted sum of two decaying exponentials. The time constant of the fast component was comparable to that of the single component observed in mammalian cells. The block of hSkM1 Na⁺ currents by the extracellular toxins tetrodotoxin (TTX) and -conotoxin (CTX) was measured. The IC₅₀ values were 25 nM (TTX) and 1.2 M (CTX) in oocytes. The potency of TTX is similar to that observed for the rat homolog rSkM1, but the potency of CTX is 22-fold lower in hSkM1, primarily due to a higher rate of toxin dissociation in hSkM1. Single-channel recordings were obtained from outside-out patches of oocytes expressing hSkM1. The single-channel conductance, 24.9 pS, is similar to that observed for rSkM1 expressed in oocytes.     

Correlation between soluble serum CD16 (sCD16) levels and disease stage in patients with multiple myeloma

CD16, the type III receptor for IgG, is expressed on neutrophils, natural killer cells, and some T lymphocytes, mast cells, and activated monocytes but not on cells of the B-lymphocyte lineage including plasma cells. It is also produced in a soluble form found in serum. We analyzed sera from 165 multiple-myeloma patients, 29 patients with monoclonal gammopathies of unknown significance, and 20 normal disease-free donors. We found that the level of soluble CD16 was significantly decreased in sera from patients with multiple myeloma compared to sera from healthy and monoclonal gammopathies of unknown significance donors (P=0.0001). In addition, a stage-dependent decrease in soluble CD16 was observed, with a highly significant difference (P=0.004) between stage I and stage II+III myeloma patients. The correlation between the myeloma stage and the serum level of soluble CD16, which is related to the host response, was found to be more sensitive than that of ₂-microglobulin, which reflects the tumor burden. The concomitant evaluation of the serum levels of these two markers allows better staging and therefore has a more precise prognostic value.     

The endocrine control of embryonic lung maturation in the chicken. I. Morphological and biochemical differentiation of lungs after "in ovo" decapitation

Summary The effects of in ovo hypophysectomy on lung maturation of the chick embryo were investigated. Both biochemical and morphological aspects of differentiation were markedly delayed in experimental embryos: the phospholipid content of lungs was lower than in controls at all stages, whereas the water content remained very high. The type II pneumocytes, which normally appear within the epithelium on day 16 of incubation, started to differentiate only between days 18 and 20 of incubation in the decapitated embryos. The differentiation of type I pneumocytes leading to the formation of air capillaries was also slowed down: they did not appear until the end of incubation in decapitated embryos, whereas they normally start to appear on day 19. The presence of an intact hypophysis is thus essential for normal lung maturation in the chicken.