Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?

We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.     

Negative symptoms in schizophrenia: considerations for clinical trials

There is little agreement about the methodology of clinical trials of antipsychotic drugs in patients with negative symptoms. A literature review revealed wide variation in experimental design, rating scales and study duration. This reflects differing views as to the definition and response to treatment of negative symptoms. Some degree of standardization would improve comparability of studies and aid the development of new compounds. Patients included in such studies should have displayed negative symptoms for at least 6 months. Depressive symptoms, positive schizophrenic symptoms and extrapyramidal signs may all influence or be confused with negative symptoms and may respond to treatment; they should be at a low level at baseline and should be measured during the study period. Studies should last at least 8 weeks. Several scales are available for measuring negative symptoms and are reviewed; a global impression score should be used additionally.     

Preventing hypoxemia and hemodynamic compromise related to endotracheal suctioning.

OBJECTIVE: To help the clinician bridge the gap between research and practice in determining ways to minimize side effects of endotracheal suctioning. DATA SOURCES: This article summarizes four previous reviews of research and studies published between 1984 and 1991 related to oxygenation techniques before, during and after endotracheal suctioning, and hemodynamic consequences of the suctioning procedure. STUDY SELECTION: Studies were reviewed by type of subject: animals, human subjects with normal lung function, and human subjects with abnormal lung function. Research of pediatric and head-injured populations was excluded from this review. DATA EXTRACTION: Oxygenation protocol, endotracheal suction characteristics, outcomes and measurement times, sample and setting, and findings were presented. CONCLUSIONS: Conclusions relate to the effectiveness of various endotracheal suction protocols on prevention of hypoxemia and hemodynamic compromise in intubated patients. DATA SYNTHESIS: An algorithm to guide clinical decision making is presented based on the conclusions of this review of the research.     

Komplikationen der Nagelosteosynthese am proximalen Humerus

In a prospective outcome study, 76 of 116 patients were examined 1 year after reduction and internal fixation of a dislocated humeral head fracture with an antegrade straight intramedullary nailing system using angular and sliding stable interlocking screws. Of these patients, 77% had three- or four-segment fractures according to the Neer classification. The mean absolute Constant-Murley score 1 year after trauma was 70.0±19.7 points. During the observation period, 51 complications occurred in 44 of 76 patients; of these 44 patients, only 27 required therapeutic interventions. The highest frequency of complications was apparent in those with Neer IV fractures (73.7%), while those with Neer III and Neer IV/III fractures had complication rates of 50% and 52.5%, respectively. Patients without complications showed good or excellent functional results, ranging from 78% to 96% (relative Constant-Murley score of the contralateral noninjured side). In patients with complications, the relative Constant-Murley score ranged from 51% to 65%. Despite the high complication rate, the antegrade angular and sliding stable interlocking nail can be considered effective for treating dislocated humeral head fractures. Modifications of the surgical technique for stabilizing the tubercles (additional suture cerclage fixation of fragmented tubercles) and a polyetheretherketone (PEEK) insert in the proximal segment of the nail to prevent the fixation screws from backing out can substantially decrease some of the most frequent complications.     

Geometric indices of bone strength are associated with physical activity and dietary calcium intake in healthy older women.

A population-based study on 1008 postmenopausal women identified that the 24% of women achieving high levels of PA and CI had 3.4-4.4% higher femoral bone strength in axial compression and 1.7-5.2% in bending than those achieving low levels, indicating that lifestyle factors influence bone strength in the proximal femur. INTRODUCTION: Extensive research has shown that increased physical activity (PA) and calcium intake (CI) decrease the rate of bone loss; however, there is little research on how these lifestyle variables affect bone geometry. This study was designed to investigate the effects of modifiable lifestyle variables, habitual PA and dietary CI, on femoral geometry in older women. MATERIALS AND METHODS: Femoral geometry, habitual PA, and dietary CI were measured in a population-based sample of 1008 women (median age+/-interquartile range, 75+/-4years) enrolled in a randomized controlled trial (RCT) of calcium supplementation. Baseline PA and CI were assessed by validated questionnaires, and 1-year DXA scans (Hologic 4500A) were analyzed using the hip structural analysis technique. Section modulus (Z), an index of bending strength, cross-sectional area (CSA), an index of axial compression strength, subperiosteal width (SPW), and centroid position, the position of the center of mass, were measured at the femoral neck (NN), intertrochanter (IT), and femoral shaft (FS) sites. These data were divided into tertiles of PA and CI, and the results were compared using analysis of covariance (ANCOVA), with corrections for age, height, weight, and treatment (calcium/placebo). RESULTS AND CONCLUSIONS: PA showed a significant dose-response effect on CSA all hip sites (p<0.03) and Z at the narrow neck and intertrochanter sites (p<0.02). For CI, there was a dose-response effect for centroid position at the intertrochanter (p=0.03). These effects were additive, such that the women (n=240) with PA in excess of 65.5 kcal/day and CI in excess of 1039 mg/day had significantly greater CSA (NN, 4.4%; IT, 4.3%; FS, 3.4%) and Z (NN, 3.9%; IT, 5.2%). These data show a favorable association between PA and aspects of bone structural geometry consistent with better bone strength. Association between CI and bone structure was only evident in 1 of 15 variables tested. However, there was evidence that there may be additive effects, whereby women with high levels of PA and CI in excess of 1039 mg/day had significantly greater CSA (NN, 0.4%; FS, 2.1%) and Z (IT, 3.0%) than women with high PA but low CI. These data show that current public health guidelines for PA and dietary CI are not inappropriate where bone structure is the health component of interest.