We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others.
View Article and Find Full Text PDFPhys Rev E Stat Nonlin Soft Matter Phys
May 2005
We report double-strand DNA translocation experiments using silicon oxide nanopores with a diameter of about 10 nm . By monitoring the conductance of a voltage-biased pore, we detect molecules with a length ranging from 6557 to 48 500 base pairs. We find that the molecules can pass the pore both in a straight linear fashion and in a folded state.
View Article and Find Full Text PDFWe report a new technique for fabricating electrodes for electrochemical applications with lateral dimensions in the range 15-200 nm and a reproducible, well-defined geometry. This technique allows determining the electrode size by electron microscopy prior to electrochemical measurements and without contamination of the metal electrode. We measured the diffusion-limited current with stepped-current voltammetry and showed that its dependence on electrode size can be quantitatively understood if the known geometry of the electrodes is explicitly taken into account.
View Article and Find Full Text PDFSingle nanometre-sized pores (nanopores) embedded in an insulating membrane are an exciting new class of nanosensors for rapid electrical detection and characterization of biomolecules. Notable examples include alpha-hemolysin protein nanopores in lipid membranes and solid-state nanopores in Si3N4. Here we report a new technique for fabricating silicon oxide nanopores with single-nanometre precision and direct visual feedback, using state-of-the-art silicon technology and transmission electron microscopy.
View Article and Find Full Text PDFPurpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome.
Methods: FISH and dosage-sensitive Southern blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation.
Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene.
Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder with high penetrance and variable expression. Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia. All VWS families studied to date map the disease gene to a < 2 cM region of chromosome 1q32, with no evidence of locus heterogeneity.
View Article and Find Full Text PDFA man aged 69 years with a history of a cerebrovascular accident showed progressively strange behaviour in two weeks. There were no signs of a neurological disorder. Psychiatric examination revealed psychotic symptoms.
View Article and Find Full Text PDFJ Craniofac Genet Dev Biol
September 1995
Two regions were chosen for linkage studies to cleft lip with or without cleft palate (CL[P]) because they are break points of a balanced translocation in a patient with severe bilateral facial clefting. We used dinucleotide repeats to test chromosomal regions 1q21 and 22q11.2 for such linkage.
View Article and Find Full Text PDFEur J Clin Microbiol Infect Dis
December 1994
To assess the efficacy of single-dose antibiotic prophylaxis in coronary artery bypass grafting, 1,016 consecutive patients were prospectively randomized to receive either a single dose or a three-day course of cefuroxime. Nine patients (0.9%) died within seven days; no death was caused by infection.
View Article and Find Full Text PDFNed Tijdschr Geneeskd
March 1994
Objective: To determine the treatment of foot infections in patients with diabetes mellitus and the implementation of the Dutch consensus guidelines.
Design: Questionnaire.
Setting: Nationwide.
Objective: To assess the impact of the diabetic foot on the hospitalization of patients with diabetes mellitus in The Netherlands.
Methods: Data on hospitalizations of patients with diabetes mellitus for the years 1988 and 1989 were obtained from the Dutch Information System on Hospital Care. Analysis of the data was performed if in the discharge summary a code number for chronic ulcer of the lower extremity, osteomyelitis or gangrene was reported.
Plasmid isolation was used to refine the epidemiologic analysis for 168 shigellosis cases in Pima County, Ariz. Plasmids of less than 20 kb were used for comparison of plasmid profiles. Plasmid patterns for each species were distinct.
View Article and Find Full Text PDFIn 1984, the incidence of shigellosis was 32.4 per 100,000 population in Pima County, Arizona. To investigate sources, Shigella isolates and epidemiologic data were collected for 79 cases of infection with Shigella sonnei, the most common species.
View Article and Find Full Text PDFThis study was designed to evaluate the effects of brain irradiation on the permeability of the blood-brain barrier for methotrexate (MTX). Female WAG/Rij rats were cranially irradiated with a single dose of 20 Gy of 300 kV X-rays. At different times (1-15 days) after the exposure the rats were injected intravenously with MTX (25 mg/kg body wt).
View Article and Find Full Text PDFRes Commun Chem Pathol Pharmacol
April 1985
The absorption of methotrexate (MTX) following single and repeated oral administrations was investigated in the rat and compared with that after intravenous injections. The absorption of intermediate dose MTX was poor (14.7%), both after single gift (25 mg X kg-1) and when given repeatedly at 72-hour intervals (3 X 25 mg X kg-1).
View Article and Find Full Text PDFInt J Rehabil Res
June 1981
One of the most important factors in rehabilitation is the assessment of the handicapped's capacity to return to this previous work, or possibly to choose a new job (vocational rehabilitation) or to adapt the operation station. It is thus advisable to elaborate an assessment system of the working possibilities in order to better program individually the activities of functional rehabilitation, or retraining to effort, or of retraining to work. The assessment of the working capacity must take account of 3 principles: to observe--to assess--to guide, and this throughout rehabilitation, considering it must be precocious, progressive and continuous.
View Article and Find Full Text PDFJ Belge Rhumatol Med Phys
August 1970