Detection of a human chromosomal translocation t(8;9) in a baby with multiple malformations using two-color fluorescence in situ hybridization

A human chromosomal translocation t(8;9) was detected using two-color fluorescence in situ hybridization with probes capable of staining the entire lengths of each of these chromosomes. The chromosome 8 probe was labeled with biotin and detected with Texas red, while the chromosome 9 probe was labeled with AAF and detected with FITC . In normal metaphase spreads, two metaphases from the proband, two red, one green and one part red and part green derivative chromosome were seen. The bicolor chromosome corresponded to translocation of a chromosome 8 segment to the distal part of the q region of one chromosome 9, as originally indicated by banding analysis. In interphase nuclei of the proband, four domains with bright fluorescence were recognized in many nuclei. Two were red, one was green, and the fourth had portions of both colors, indicating the presence of the translocation.     

An unusual case of traumatic haematoma of soft palate.

Ingestion of small bones often causes oropharyngeal trauma. I present an unusual case of a potentially life-threatening haematoma of the soft palate caused by a chicken bone. To my knowledge, this is the only case reported in the English literature.     

Giant infectious intracavernous carotid artery aneurysm presenting as intractable epistaxis

Infectious intracavernous carotid artery aneurysms usually present with ophthalmoplegia and/or signs of cavernous sinus thrombosis. We report an unusual case in which a patient with AIDS presented with intractable epistaxis secondary to rupture of a giant infectious intra-cavernous carotid artery aneurysm. Culture of the aneurysm grew mycobacterium avium intracellulare (MAI). The patient was treated successfully by excision of the aneurysm and reconstruction of the internal carotid artery with a saphenous vein interposition graft.     

The impact of near-patient testing on the organisation and costs of an anticonvulsant clinic

A near-patient testing facility was provided at an anticonvulsant clinic and compared with the previously offered service. Productivity was increased by over 20%, with savings in medical and nursing staff time. This saving in time is offset by increased consumable costs but still enables a significant net saving.     

Persistent loss of thermoregulation in the rat induced by 3,4-methylenedioxymethamphetamine (MDMA or “Ecstasy”) but not by fenfluramine

Using radio-biotelemetry, the timecourse of recovery and sensitivity to ambient temperature (Ta) of the thermogenic response of methylenedioxymethamphetamine (MDMA or “Ecstasy”) was examined. Ambient temperatures of 17 and 22°C produced very different response profiles, with the lower temperature producing a hypothermic response to 10 and 15 mg/kg doses of MDMA, and the higher temperature producing a profound hyperthermia to the same doses. Although the peak responses to the drug had subsided within 5 h of administration, residual effects, in the form of an elevation of body temperature during the “low” phase of the diurnal cycle, were present for a further 48 h. Long-lasting disruption of the thermoregulatory system following a short series of MDMA administrations (10 mg/kg once per day for 4 days) was shown by exposing the rats in the undrugged state to a thermoregulatory challenge, consisting of 60-min exposure to a Ta of 30°C, at 1 week before, and at 4 weeks and 14 weeks after the drug administration. MDMA-treated rats showed a prolonged hyperthermic response to the challenge at both post-drug intervals compared with fenfluramine-treated rats and saline-treated controls. Thus, the results indicate both that MDMA’s thermogenic effects are more sensitive to Ta than previously demonstrated, and that the serotonergic neurotoxicity of the drug may produce long-lasting changes in thermoregulatory mechanisms. Received: 7 December 1997/Final version: 23 January 1998     

Pregnancy outcome associated with natural family planning (NFP): scientific basis and experimental design for an international cohort study

Although natural family planning (NFP) is a form of contraception without ostensible maternal risks (other than pregnancy), potential fetal risks could exist if aging gametes are involved in inadvertent fertilization. In the following report, we first review animal studies firmly establishing that aging sperm and aging oocytes (delayed fertilization) cause chromosomal abnormalities in mammals and other species. We next review human studies associating decreased coital frequency with trisomy and studies of NFP populations that generally show no increased frequency of anomalous offspring or spontaneous abortions. Our rationale for initiating an international cohort study is presented, along with the experimental design selected. Preliminary findings indicate that the experimental design chosen will indeed provide information allowing NFP safety to be assessed definitively.

---

Resumen Aunque la planificación familiar natural (PFN) es una forma de anticoncepción sin riesgos maternos ostensibles, (fuera del embarzo) podrían existir posibles riesgos fetales di gametos que están envejeciendo son inadvertidamente fertilizados. La primera revisión de estudios en animales establece firmemente que espermatozoides y oocytos en envejecimiento (fertilización tardía), causan anormalidades cromosómicas en mamíferos y otras especies. A continuación revisamos estudios en humanos que asocian la disminución de la frecuencia coital con trisomía, y estudios de poblaciones practicando PFN que generalmente no muestran aumento en la frecuencia de descendientes anormales o de abortos espontáneos. Presentamos nuestras razones para iniciar el estudio de una cohorte internactional ademas del diseño experimental elegido proveerá información alegando que la inocuidad de la PFN sea definitivamente valorada.

---

Resumé Bien que le planning familial naturel (PFN-NFP) soit une forme de contraception ne présentant pas de risques manifestes pour la mère (autres qu'une grossesse), il pourrait y avoir des risques potentiels pour le foetus si des gamètes âgés sont par inadvertance fécondés. Nous passons en revue tout d'abord des études effectuées sur des animaux, établissant fermement que le sperme veillissant et les oocytes vieillissants (fécondation retardée) provoquent des anomalies chromosomales chez les mammifères et d'autres espèces. Nous examinons ensuite des études sur des humains, qui associent diminution coitale et trisomie, et des études de populations pratiquant le PFN, qui ne révèlent généralement pas de fréquence accrue d'enfants anormaux ou d'avortements spontanés. Cette communication expose la raison pour laquelle nous avons entrepris une étude sur une cohorte internationale, ainsi que le concept d'expérimentation que nous avons choisi. Les constatations préliminaires indiquent que ce concept fournira véritablement des informations qui permettront d'évaluer de façon définitive la sécurité du PFN.

     

Effect of training on postural control in figure skaters: a randomized controlled trial of neuromuscular versus basic off-ice training programs.

OBJECTIVES: To compare the effect of a neuromuscular training program and a basic exercise program on postural control in figure skaters. DESIGN: Two groups; parallel design; prospective, randomized controlled trial. SETTING: Postural control laboratory, arenas, September 2001 to December 2002. PARTICIPANTS: Forty-four young, healthy figure skaters (18 years +/- 3 years). INTERVENTIONS: Participants were randomly assigned to receive a neuromuscular training program (n = 22) or a basic exercise training program (n = 22). Both programs were completed 3 times per week for 4 weeks, and each session was supervised. MAIN OUTCOME MEASUREMENTS: Participants completed baseline and postintervention measures of postural control on a force plate. Postural control was quantified as the center of pressure (CoP) path length during tests of single-limb standing balance that mimicked figure skating skills and challenged the postural control system to varying degrees. The primary outcome measure was the CoP path length observed during a landing jump test completed with eyes closed. RESULTS: The post intervention CoP path lengths during the more challenging tests were significantly (P < 0.05) lower (indicating better postural control) for the neuromuscular trained group than for the basic exercise-trained group. For the landing jump test completed with eyes closed, the percent improvement in the neuromuscular trained group was significantly greater (mean = 21.0 +/- 22.0%) than the basic exercise trained group (mean = -4.9 +/- 24.9%; P < 0.05). The magnitude of improvement in the neuromuscular-trained group ranged from approximately 1% to 21%, depending on the specific postural control test used. CONCLUSIONS: The results suggest that off-ice neuromuscular training can significantly improve postural control in figure skaters, whereas basic exercise training does not.     

Predictors of Maternal Responsiveness

PURPOSE: To explore maternal responsiveness in the first 2 to 4 months after delivery and to evaluate potential predictors of maternal responsiveness, including infant feeding, maternal characteristics, and demographic factors such as age, socioeconomic status, and educational level. DESIGN AND METHODS: A cross-sectional survey design was used to assess the variables of maternal responsiveness, feeding patterns, and maternal characteristics in a convenience sample of 177 mothers in the first 2 to 4 months after delivery. The 60-item self-report instrument included scales to measure maternal responsiveness, self-esteem, and satisfaction with life as well as infant feeding questions and sociodemographic items. An online data-collection strategy was used, resulting in participants from 41 U.S. states. FINDINGS: Multiple regression analysis showed that satisfaction with life, self-esteem, and number of children, but not breastfeeding, explained a significant portion of the variance in self-reported maternal responsiveness scores. In this analysis, sociodemographic variables such as age, education, income, and work status showed little or no relationship to maternal responsiveness scores. CONCLUSIONS: This study provides additional information about patterns of maternal behavior in the transition to motherhood and some of the variables that influence that transition. Satisfaction with life was a new predictor of maternal responsiveness. However, with only 15% of the variance explained by the predictors in this study, a large portion of the variance in maternal responsiveness remains unexplained. Further research in this area is needed.