Initial staging examinations for head and neck squamous cell carcinoma: are they appropriate?

OBJECTIVES: The presence of distant metastases affects the therapeutic regime in patients with head and neck squamous cell carcinoma. This study evaluated the necessity to undertake bone scanning, chest computed tomography and abdominal ultrasonography in patients presenting with primary advanced head and neck squamous cell carcinoma. STUDY DESIGN: Retrospective analysis, university setting. METHODS: One hundred and sixty-three patients with head and neck squamous cell carcinoma who were scheduled for major surgery underwent screening for distant metastases. Chest, head and neck computed tomography, abdominal ultrasonography and bone scanning were performed in all patients. RESULTS: Distant metastases were detected in 5.52 per cent of the 163 patients. All of these patients had locoregional advanced (stage IV) tumours. Computed tomography scanning of the lungs revealed metastases in six patients. Bone metastases were found in three patients. Only one patient with primary liver metastases was detected by abdominal ultrasonography; this patient also had pulmonary metastases. CONCLUSIONS: Computed tomography of the thorax is the most important technique for screening patients with head and neck squamous cell carcinoma.

Health-related quality of life in children with vesicoureteral reflux - impact of successful endoscopic therapy.

OBJECTIVES: Endoscopic therapy for vesicoureteral reflux (VUR) using dextranomer/hyaluronic acid (Dx/HA) has become increasingly popular, but the subjective impact of this therapy and subsequent reflux resolution on health-related quality of life (HRQoL) remains unclear. The aim of this study was to address this issue. MATERIALS AND METHODS: One hundred children (65 girls, 35 boys; mean age 4.46 years) cured of primary VUR by endoscopic treatment were retrospectively reviewed. The Glasgow children's benefit inventory (GCBI) - a validated, reproducible, post-interventional questionnaire consisting of four subscales - supplemented by sociodemographic and disease-specific questions was employed. The HRQoL benefit was calculated on a scale ranging from -100 (complete failure) to +100 (complete success) and correlated with supplementary data. RESULTS: Total response rate was 88%. Mean total GCBI score was 28.4+/-20.3 representing a significant HRQoL amelioration. All GCBI subscores improved with the physical health subscale being most relevant. A gender-specific, significant difference in relative GCBI scores was discovered. Correlation with critical life events and time since operation proved the positive effect on HRQoL to be durable. CONCLUSIONS: Resolution of primary VUR secondary to Dx/HA treatment significantly improves HRQoL. HRQoL is positively affected in many areas and not only in those directly associated with VUR. These improvements are not temporary, suggesting that successful Dx/HA therapy may be superior to medical management in terms of children's quality of life.

The impact of adenotonsillectomy on children's quality of life.

OBJECTIVES: Although adenotonsillectomy is one of the most frequently performed surgical procedures in the pediatric population, there is little known about its impact on Health-related Quality of Life (HRQL). The aim of this study was to measure children's HRQL-benefit after adenotonsillectomy. DESIGN AND SETTING: The study was carried out as a retrospective postal survey utilising a proxy rating. PARTICIPANTS: In total, 447 parents of children who underwent adenotonsillectomy for the indication of chronic tonsillitis were included. 43% (n = 191) of the parents returned completed surveys. MAIN OUTCOME MEASURES: To quantify the benefit after pediatric adenotonsillectomy the Glasgow Children's Benefit Inventory (GCBI) was used. RESULTS: Mean GCBI-total score was 21 +/- 19 (-8 to 77), showing an improvement in all GCBI subscales. CONCLUSIONS: Adenotonsillectomy is a highly effective approach to treat children with tonsil disease. It has a positive impact on children's HRQL and other areas not directly associated with their tonsil disease. Moreover, this improvement in HRQL is durable and not temporary.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the Delta7-sterol reductase (DHCR7, E.C.1.3.1.21) gene. The prevalence of SLOS has been estimated to range between 1:15000 and 1:60000 in populations of European origin. METHODS AND RESULTS: We have analysed the frequency, origin, and age of DHCR7 mutations in European populations. In 263 SLOS patients 10 common alleles (c.964-1G>C, p.Trp151X, p.Thr93Met, p.Val326Leu, p.Arg352Trp, p.Arg404Cys, p.Phe302Leu, p.Leu157Pro, p.Gly410Ser, p.Arg445Gln) were found to constitute approximately 80% of disease-causing mutations. As reported before, the mutational spectra differed significantly between populations, and frequency peaks of common mutations were observed in North-West (c.964-1G>C), North-East (p.Trp151X, p.Val326Leu) and Southern Europe (p.Thr93Met). SLOS was virtually absent from Finland. The analysis of nearly 8000 alleles from 10 different European populations confirmed a geographical distribution of DHCR7 mutations as reported in previous studies. The common Null mutations in Northern Europe (combined ca. 1:70) occurred at a much higher frequency than expected from the reported prevalence of SLOS. In contrast the most common mutation in Mediterranean SLOS patients (p.Thr93Met) had a low population frequency. Haplotypes were constructed for SLOS chromosomes, and for wild-type chromosomes of African and European origins using eight cSNPs in the DHCR7 gene. The DHCR7 orthologue was sequenced in eight chimpanzees (Pan troglodytes) and three microsatellites were analysed in 50 of the SLOS families in order to estimate the age of the three major SLOS-causing mutations. CONCLUSIONS: The results indicate a time of first appearance of c.964-1G>C and p.Trp151X some 3000 years ago in North-West and North-East Europe, respectively. The p.Thr93Met mutations on the J haplotype has probably first arisen approximately 6000 years ago in the Eastern Mediterranean. Together, it appears that a combination of founder effects, recurrent mutations, and drift have shaped the present frequency distribution of DHCR7 mutations in Europe.