The diagnosis of NF1 cannot always be made in young children using the NIH Diagnostic Criteria. Modification of these criteria may be necessary for children under 8 years old.
Objective-To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. Design-Cross sectional database survey. Setting-The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. Subjects-A total of 569 white, North American, NF1 patients, 55% female and 45% male. Main outcome measures-Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. Results-The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (>2 standard deviations below the population mean) and 24% have macrocephaly (OFC >2 standard deviations above the population mean). Conclusions-Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly. (J Med Genet 2000;37:933-938)
UBOs are difficult to identify with certainty and occur in children with suspected CNS disorders who do not have NF1, but they tend to occur in different brain regions. UBOs may be more useful for diagnosis of NF1 in young children if they can be defined precisely and if only the cerebellum, brainstem, and basal ganglia are considered.
BackgroundThe oral cavity is the most common site for head and neck squamous cell carcinoma. Treatment of advanced stage oral cavity squamous cell carcinoma (OCSCC) has classically involved surgical resection with postoperative adjuvant radiotherapy (S-RT).Despite this aggressive dual modality therapy, the disease outcomes have remained poor. The treatment options expanded in 2004 when two international trials showed the addition of postoperative chemotherapy to radiation improved outcomes. These trials were, however not oral cavity site specific.ObjectiveTo assess survival outcomes of advanced OCSCC treated by differing modalities. The primary goal was to determine if the addition of postoperative chemotherapy (S-CRT) improves survival compared to other treatment regimens.MethodsDemographic, pathologic, treatment, and survival data was obtained from patients diagnosed with OCSCC from 1998–2010 in Alberta, Canada. 222 patients were included in the final analysis from 895 OCSCC patients. Actuarial overall, disease-specific, disease-free, and metastasis-free survivals were estimated with Kaplan-Meier and Cox regression analyses. Patients were grouped by treatment.ResultsPatients receiving S-CRT had improved overall, disease-specific, disease-free, and metastasis-free survival compared to S-RT, CRT or RT(p < 0.05). Two and five year estimated overall survival was significantly higher in the S-CRT group at 77 and 58% (p < 0.05), versus S-RT with 55 and 40% rates(p < 0.05). Results were similar for disease-specific, disease-free, and metastasis free survival with S-CRT being favoured. Patients with extracapsular spread (ECS) treated with S-CRT versus S-RT had 55% survival advantage at 5 years (p < 0.05).ConclusionThis study shows that adding adjuvant chemotherapy to S-RT improves survival outcomes in advanced OCSCC, especially in patients with ECS.
The relationship of genetic factors to variable expressivity in neurofibromatosis 1 (NF1) is poorly understood. We examined familial aggregation of NF1 features among different classes of affected relatives. Clinical information was obtained from the National NF Foundation International Database on 904 affected individuals in 373 families with 2 or more members with NF1. We used multivariate probit regression to measure the associations between various classes of relatives for each of 10 clinical features of NF1, while simultaneously adjusting for covariates including related features, age, and gender. Two distinct patterns were observed when we compared associations between first- and second-degree relatives, sibs, and parent-child pairs: Lisch nodules and café-au-lait spots had greater associations between first-degree relatives than between second-degree relatives, while subcutaneous neurofibromas, plexiform neurofibromas, café-au-lait spots, and intertriginous freckling had greater associations between sibs than between parents and children. In addition, Lisch nodules, subcutaneous neurofibromas, and cutaneous neurofibromas had greater associations between affected fathers and children than between affected mothers and children. These familial patterns suggest that unlinked modifying genes and the normal NF1 allele may both be involved in the development of particular clinical features of NF1, but that the relative contributions vary for different features.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.