Detecting multiple sclerosis via breath analysis using an eNose, a pilot study.

In the present study we investigated whether multiple sclerosis (MS) can be detected via exhaled breath analysis using an electronic nose (eNose). The AeonoseTM(an eNose, The eNose Company, Zutphen, the Netherlands) is a diagnostic test device to detect patterns of volatile organic compounds in exhaled breath. We evaluated whether the AeonoseTMcan make a distinction between the breath patterns of patients with MS and healthy control subjects. In this mono-center, prospective, non-invasive study, 124 subjects with a confirmed diagnosis of MS and 129 control subjects each breathed into the AeonoseTMfor 5 min. Exhaled breath data was used to train an artificial neural network (ANN) predictive model. To investigate the influence of medication intake we created a second predictive model with a subgroup of MS patients without medication prescribed for MS. The ANN model based on the entire dataset was able to distinguish MS patients from healthy controls with a sensitivity of 0.75 (95% CI: 0.66-0.82) and specificity of 0.60 (0.51-0.69). The model created with the subgroup of MS patients not using medication and the healthy control subjects had a sensitivity of 0.93 (0.82-0.98) and a specificity of 0.74 (0.65-0.81). The study showed that the AeonoseTMis able to make a distinction between MS patients and healthy control subjects, and could potentially provide a quick screening test to assist in diagnosing MS. Further research is needed to determine whether the AeonoseTMis able to differentiate new MS patients from subjects who will not get the diagnosis.

Long-term results of trismus release in noma patients.

Noma, also known as cancrum oris, is an infectious disease that results in a loss of orofacial tissue, due to gangrene of soft and bony tissue. It is especially seen in young children in the sub-Saharan region. Among the sequelae of patients who survive noma, trismus is one of the most disabling. This retrospective research studied the long-term results of trismus release in noma patients. Thirty-six patients could be traced in the villages and were included in the study. The mean mouth opening in this group was 10.3mm (95% CI: 7.0; 13.6mm) and the mean period after discharge from hospital was 43 months. Better mouth opening was observed in patients who continued physiotherapy after discharge, were older, and those with a 'soft' (vs. 'hard') inner and outer cheek on palpation. The result of trismus release in noma patients in the long term was extremely poor in this study.

Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyotype identification. Sonographic findings were compared with autopsy results in 209 patients (trisomy 13, n=39; trisomy 18, n=64; and trisomy 21, n=106). RESULTS: For trisomy 13, cleft deformities were detected prenatally in 65.2%, and of the 39 cases with pathological information, 76.9% were found to have a cleft deformity. Ocular and orbital abnormalities were found in 28%. Malformations of the jaws and abnormal profiles were more frequently diagnosed postnatally than prenatally. For trisomy 18, abnormal profiles (41.5%) and ear abnormalities (5.3%) were the most noticeable ultrasound markers, next to abnormalities of the neurocranium (36.8%) and cranial bone configuration (21.6%). Dysmorphisms of the eye, ear, or nose were detected more frequently in autopsy cases. For trisomy 21, ultrasound showed an aberrant shape of the skull in 14.2% of fetuses. In general, the ocular-orbital and nasal abnormalities in fetuses with trisomy 18 or 21 were more evident in pathological examination than in prenatal ultrasound imaging. CONCLUSIONS: Facial anomalies are common in the major trisomies, and their prenatal sonographic identification should be improved. The above-mentioned facial anomalies provide sufficient reason to consider performing cytogenic evaluation.

Outcome of hand trauma: the hand injury severity scoring system (HISS) and subsequent impairment and disability.

This study was designed to evaluate correlations between the hand injury severity scoring system (HISS) and measures of impairment and disability obtained 6 months after a hand injury. A statistically significant positive correlation was found between the severity of the injury (HISS) and residual impairment, as measured with the American Medical Association's (AMA) "Guides to the evaluation of permanent impairment, 4th edition". No statistically significant correlation was found between the severity of the injury (HISS) and the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire, which measures disability from the patient's perspective. There was however a statistically significant correlation between AMA total body impairment measured and the results of the DASH questionnaire. The results indicate the potential of the HISS for predicting the final impairment after hand injuries.