Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

CONTEXT & OBJECTIVE: The Ecuadorian GH receptor deficiency (GHRD)/Laron syndrome population is the only large cohort with a single GHR mutation (E180 splice), permitting identification of numerous carrier and noncarrier first-degree relatives, to ascertain effects of heterozygosity on GH-dependent IGF-I and IGFBP-3 concentrations and on growth. DESIGN: First-degree relatives (n=212) of GHRD patients had specimens taken for IGF-I, IGFBP-3, and GHR genotyping. Normal statured (n=40) and short statured (n=40) unrelated controls had measurement of IGF-I, IGFBP-3, and stature. RESULTS: There were no significant differences between heterozygous and homozygous normal relatives in IGF-I or IGFBP-3 standard deviation scores (SDS). Heterozygous relatives had lower mean height SDS than did homozygous normals, but with extensive overlap between genotype groups in both child and adult relatives. Height SDS in general did not relate to IGF-I or IGFBP-3 concentrations. CONCLUSIONS: GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. Heterozygosity is associated with reduction in mean statural SDS, but this is not sufficient to be clinically important and not mediated through measurable differences in circulating IGF-I or IGFBP-3 related to genotype.     

An analysis of injury rates after the seasonal change in rugby league.

OBJECTIVES: To determine whether the increase in the incidence of injury found for the first summer season in which rugby league (RL) was played in the UK was repeated in subsequent summer seasons. DESIGN: A retrospective and prospective cohort study design. SETTING AND PARTICIPANTS: Injuries were recorded from all players who took part in 141 games over 3 summer seasons (1997 to 1999) for 1 professional team. These were compared against rates from previously collected data for 3 earlier winter and 1 summer season. ASSESSMENT OF RISK FACTORS: For each injury it was recorded in which season it occurred; how many games or training sessions, if any, were subsequently missed; the type, site and severity of injury. MAIN OUTCOME MEASURES: Injuries were reported as rate per 1000 hours, also broken down into severity according to the number of games missed and whether subsequent training sessions were missed. RESULTS: A sustained increase in injury incidence has been found comparing summer RL over RL played in the winter. There was an increase in injury rates for all sites and types, but not all reached significance. CONCLUSIONS: Data collected over 6 seasons indicate a higher risk of sustaining an injury playing summer RL, but the cause may be related to a combination of factors. These may include the ground or weather conditions associated with summer rugby, player characteristics or changes in the game itself and future research needs to investigate these further.     

Pulmonary arterial aneurysm presenting as an endobronchial mass.

The case is presented of a 25 year old man with haemoptysis who exsanguinated following endoscopic fine needle aspiration of an endobronchial mass. Necroscopic examination revealed an aneurysm of the proximal left pulmonary artery.     

Do patients receive adequate pain control after discharge from the ED?

Studies on the effectiveness of pain management have uniformly concluded that health care providers underestimate or undertreat pain. In the emergency department (ED) in which this study was conducted, physicians receive formal didactic and bedside teaching on pain recognition and management in order to heighten the awareness of patient's need for pain control. The purpose of this study was to determine if this outpatient pain management of patients with acute, painful conditions is better than that reported in the medical literature. In this prospective study, 110 adult patients who had an acute, painful diagnosis were telephoned 48 hours after discharge from the ED and asked if they felt their pain at home was well controlled. Patient satisfaction with pain control was higher (91%) than that reported in the medical literature. Also, pain medication was provided more frequently by this study's ED (95%). Education on pain awareness and treatment is a way to improve pain management.     

Congenital cardiac malformations in Adams-Oliver syndrome

Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome.