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.     

Nurse Migration from a Source Country Perspective: Philippine Country Case Study

Objectives. To describe nurse migration patterns in the Philippines and their benefits and costs.
Principal Findings. The Philippines is a job-scarce environment and, even for those with jobs in the health care sector, poor working conditions often motivate nurses to seek employment overseas. The country has also become dependent on labor migration to ease the tight domestic labor market. National opinion has generally focused on the improved quality of life for individual migrants and their families, and on the benefits of remittances to the nation. However, a shortage of highly skilled nurses and the massive retraining of physicians to become nurses elsewhere has created severe problems for the Filipino health system, including the closure of many hospitals. As a result, policy makers are debating the need for new policies to manage migration such that benefits are also returned to the educational institutions and hospitals that are producing the emigrant nurses.
Conclusions and Recommendations. There is new interest in the Philippines in identifying ways to mitigate the costs to the health system of nurse emigration. Many of the policy options being debated involve collaboration with those countries recruiting Filipino nurses. Bilateral agreements are essential for managing migration in such a way that both sending and receiving countries derive benefit from the exchange.     

Changes in life roles after hand injury.

This study examines how acute hand injuries affect patients in their roles as spouse, caregiver, and/or worker. Qualitative data from patient interviews were used to analyze how these life roles were affected by the individuals' hand injuries. Data were extracted from interviews of three hand patients who had one or more roles of spouse, caregiver, and/or worker affected by their injury. Data were then examined and categorized for each life role by participant. Participants' views of how hand therapy affected their recovery and resumption of occupational role performance were also examined. Results showed that the participants expressed profound degrees of change in their ability to perform satisfactorily in their various life roles.     

Metastatic colon carcinoma to oral soft tissues

Metastatic tumors to the oral cavity are uncommon. Most of these cases involve the mandible or the maxilla. Rarely, metastasis occurs to the oral soft tissues from a distant primary tumor. The lung and breast are the most common primary sites. It is extremely rare to have an oral soft-tissue metastasis from a carcinoma of the colon. A case of primary adenocarcinoma of the colon with metastasis to the soft tissues of the mouth is described. Three similar case reports are reviewed. A metastatic lesion to the oral cavity could be the first indication of the presence of a primary tumor.     

Linitis plástica primaria rectal

Primary linitis plastica of the rectum is an infrequent and unusual rectal carcinoma. We report a new case that presented clinically as a haemorrhoidal syndrome. We comment on the characteristics--clinical picture and histopathology--of this uncommon presentation of rectal tumour, as well as its clinical history and prognosis taking into account that the literature consulted indicated the unusualness of primary linitis plastica of the rectum.     

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan.

This article presents the revision process, major innovations, and clinimetric testing program for the Movement Disorder Society (MDS)-sponsored revision of the Unified Parkinson's Disease Rating Scale (UPDRS), known as the MDS-UPDRS. The UPDRS is the most widely used scale for the clinical study of Parkinson's disease (PD). The MDS previously organized a critique of the UPDRS, which cited many strengths, but recommended revision of the scale to accommodate new advances and to resolve problematic areas. An MDS-UPDRS committee prepared the revision using the recommendations of the published critique of the scale. Subcommittees developed new material that was reviewed by the entire committee. A 1-day face-to-face committee meeting was organized to resolve areas of debate and to arrive at a working draft ready for clinimetric testing. The MDS-UPDRS retains the UPDRS structure of four parts with a total summed score, but the parts have been modified to provide a section that integrates nonmotor elements of PD: I, Nonmotor Experiences of Daily Living; II, Motor Experiences of Daily Living; III, Motor Examination; and IV, Motor Complications. All items have five response options with uniform anchors of 0 = normal, 1 = slight, 2 = mild, 3 = moderate, and 4 = severe. Several questions in Part I and all of Part II are written as a patient/caregiver questionnaire, so that the total rater time should remain approximately 30 minutes. Detailed instructions for testing and data acquisition accompany the MDS-UPDRS in order to increase uniform usage. Multiple language editions are planned. A three-part clinimetric program will provide testing of reliability, validity, and responsiveness to interventions. Although the MDS-UPDRS will not be published until it has successfully passed clinimetric testing, explanation of the process, key changes, and clinimetric programs allow clinicians and researchers to understand and participate in the revision process.     

A new Le Fort I internal distraction device in the treatment of severe maxillary hypoplasia.

PURPOSE: The purpose of this pilot study was to test a new Le Fort I internal distraction device. PATIENTS AND METHODS: A new internal Le Fort I distraction device designed by 1 of the authors was used in 3 patients with cleft lip and palate and severe maxillary hypoplasia who needed maxillary advancements in excess of 12 mm. Presurgical planning used CASSOS (SoftEnable Technology, Ltd, Hong Kong SAR, China) prediction tracing software and a stereolithographic model to calculate the distraction vector. The distractors were pre-bent and installed on the stereolithographic model and activated to advance the maxilla. Surgery was performed in a conventional manner, and distraction was started after a 7-day latency phase at the rate of 1 mm/day and continued until the presurgical plan was achieved. The distractor was removed after a 3-month consolidation phase. Cephalometric radiographs were taken at the completion of each phase. RESULTS: This new Le Fort I internal distraction device successfully distracted the maxillae as planned in all 3 patients. At the end of the distraction phase, the maxillary advancement was measured at 15.8 mm, 15.8 mm, and 13.5 mm, respectively. In each patient, a clockwise rotation of the maxilla was observed with a tendency to a posterior open bite. Postoperative radiographs also showed that the actual distraction vectors differed from the planned vectors. After the consolidation phase, radiographs showed a relapse of 2.6 mm, 0 mm, and 5.0 mm, respectively. There was no further relapse on 3-month follow-up radiographs. Each case showed radiographic evidence of excellent new bone formation at the osteotomy sites. CONCLUSION: The new Le Fort I internal distraction device produced the necessary advancement in all 3 patients. The study also showed that the actual distraction vector differed from the planned vector. This discrepancy was caused by a clockwise rotation of the maxilla during the distraction. Finally, the study showed a variable relapse rate not previously reported in maxillary distraction.