Two-stage approach for risk estimation of fetal trisomy 21 and other aneuploidies using computational intelligence systems.

OBJECTIVE: To estimate the risk of fetal trisomy 21 (T21) and other chromosomal abnormalities (OCA) at 11-13 weeks' gestation using computational intelligence classification methods. METHODS: As a first step, a training dataset consisting of 72 054 euploid pregnancies, 295 cases of T21 and 305 cases of OCA was used to train an artificial neural network. Then, a two-stage approach was used for stratification of risk and diagnosis of cases of aneuploidy in the blind set. In Stage 1, using four markers, pregnancies in the blind set were classified into no risk and risk. No-risk pregnancies were not examined further, whereas the risk pregnancies were forwarded to Stage 2 for further examination. In Stage 2, using seven markers, pregnancies were classified into three types of risk, namely no risk, moderate risk and high risk. RESULTS: Of 36 328 unknown to the system pregnancies (blind set), 17 512 euploid, two T21 and 18 OCA were classified as no risk in Stage 1. The remaining 18 796 cases were forwarded to Stage 2, of which 7895 euploid, two T21 and two OCA cases were classified as no risk, 10 464 euploid, 83 T21 and 61 OCA as moderate risk and 187 euploid, 50 T21 and 52 OCA as high risk. The sensitivity and the specificity for T21 in Stage 2 were 97.1% and 99.5%, respectively, and the false-positive rate from Stage 1 to Stage 2 was reduced from 51.4% to ∼1%, assuming that the cell-free DNA test could identify all euploid and aneuploid cases. CONCLUSION: We propose a method for early diagnosis of chromosomal abnormalities that ensures that most T21 cases are classified as high risk at any stage. At the same time, the number of euploid cases subjected to invasive or cell-free DNA examinations was minimized through a routine procedure offered in two stages. Our method is minimally invasive and of relatively low cost, highly effective at T21 identification and it performs better than do other existing statistical methods. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Dural sac cross-sectional area and morphological grade show significant associations with patient-rated outcome of surgery for lumbar central spinal stenosis.

PURPOSE: Lumbar central spinal stenosis (LSS) is one of the most common reasons for spine surgery in the elderly patient. Magnetic resonance imaging (MRI) represents the gold standard for the assessment of LSS and can be used to obtain quantitative measures of the dural sac cross-sectional area (DCSA) or qualitative measures (morphological grades A-D) of the rootlet/cerebrospinal fluid ratio. This study investigated the intercorrelation between these two MRI evaluation methods and explored their respective relationships with the patient baseline clinical status and outcome 12 months after surgery. METHODS: This was a retrospective analysis of prospectively collected data from 157 patients (88 male, 69 female; age 72 ± 7 years) who were undergoing first-time surgery for LSS. Patients with foraminal or isolated lateral stenosis were excluded. The Core Outcome Measures Index (COMI) was completed before and 12 months after surgery. Preoperative T2 axial MRIs were blinded and independently evaluated for DCSA and morphological grade. Spearman rank correlation coefficients described the relationship between the two MRI measures of stenosis severity and between each of these and the COMI baseline and change-scores (pre to 12 months' postop). Multiple logistic regression analysis (controlling for baseline COMI, age, gender, number of operated levels, health insurance status) was used to analyse the influence of stenosis severity on the achievement of the minimum clinically important change (MCIC) score for COMI and on global treatment outcome (GTO). RESULTS: There was a correlation of ρ = -0.69 (p < 0.001) between DCSA and morphological grade. There was no significant correlation between COMI baseline scores and either DCSA or morphological grades (p > 0.85). However, logistic regression revealed significant (p < 0.05) associations between stenosis ratings and 12-month outcome, whereby patients with more severe stenosis (as measured using either of the methods) benefited more from the surgery. Patients with a DCSA <75 mm2 or morphological grade D had a 4-13-fold greater odds of achieving the MCIC for COMI or a "good" GTO, compared with patients in the least severe categories of stenosis. CONCLUSIONS: Postoperative outcome was clearly related to the degree of preoperative radiological LSS. The two MRI methods appeared to deliver similar information, as given by the relatively strong correlation between them and their comparable performance in relation to baseline and 12-month outcomes. However, the qualitative morphological grading can be performed in an instant, without measurement tools, and does not deliver less clinically useful information than the more complex and time-consuming measures; as such, it may represent the preferred method in the clinical routine for assessing the extent of radiological stenosis and the likelihood of a positive outcome after decompression.

Relationship between sedimentation sign and morphological grade in symptomatic lumbar spinal stenosis.

PURPOSE: We aimed to study the relationship between two morphological parameters recently described on MRI images in relation to lumbar spinal stenosis (LSS): the first is the sedimentation sign (SedS) and the second is the morphological grading of lumbar stenosis. MATERIALS AND METHODS: MRIs from a total of 137 patients were studied. From those, 110 were issued from a prospective database of symptomatic LSS patients, of whom 73 were treated surgically and 37 conservatively based on symptom severity. A third group consisting of 27 subjects complaining of low back pain (LBP) served as control. Severity of stenosis was judged at disc level using the four A to D grade morphological classification. The presence of a SedS was judged at pedicle level, above or below the site of maximal stenosis. RESULTS: A positive SedS was observed in 58, 69 and 76% of patients demonstrating B, C and D morphology, respectively, but in none with grade A morphology. The SedS was positive in 67 and 35% of the surgically and conservatively treated patients, respectively, and in 8% of the LBP group. C and D morphological grades were present in 97 and 35% of patients in the surgically and conservatively treated group, respectively, and in 18% of the LBP group. Presence of a positive SedS carried an increased risk of being submitted to surgery in the symptomatic LSS group (OR 3.5). This risk was even higher in the LSS patients demonstrating grade C or D morphology (OR 65). DISCUSSION AND CONCLUSION: One-third of surgically treated LSS patients do not present a SedS. This sign appears to be a lesser predictor of treatment modality in our setting of symptomatic LSS patients compared to the severity of stenosis judged by the morphological grade.

Disc degeneration: current surgical options.

Chronic low back pain attributed to lumbar disc degeneration poses a serious challenge to physicians. Surgery may be indicated in selected cases following failure of appropriate conservative treatment. For decades, the only surgical option has been spinal fusion, but its results have been inconsistent. Some prospective trials show superiority over usual conservative measures while others fail to demonstrate its advantages. In an effort to improve results of fusion and to decrease the incidence of adjacent segment degeneration, total disc replacement techniques have been introduced and studied extensively. Short-term results have shown superiority over some fusion techniques. Mid-term results however tend to show that this approach yields results equivalent to those of spinal fusion. Nucleus replacement has gained some popularity initially, but evidence on its efficacy is scarce. Dynamic stabilisation, a technique involving less rigid implants than in spinal fusion and performed without the need for bone grafting, represents another surgical option. Evidence again is lacking on its superiority over other surgical strategies and conservative measures. Insertion of interspinous devices posteriorly, aiming at redistributing loads and relieving pain, has been used as an adjunct to disc removal surgery for disc herniation. To date however, there is no clear evidence on their efficacy. Minimally invasive intradiscal thermocoagulation techniques have also been tried, but evidence of their effectiveness is questioned. Surgery using novel biological solutions may be the future of discogenic pain treatment. Collaboration between clinicians and basic scientists in this multidisciplinary field will undoubtedly shape the future of treating symptomatic disc degeneration.

[Non fusion techniques in spinal surgery]. / Techniques de "non-fusion" en chirurgie rachidienne.

In order to prevent adjacent segment degeneration following spinal fusion new techniques are being used. Lumbar disc arthroplasty yields mid term results equivalent to those of spinal fusion. Cervical disc arthroplasty is indicated in the treatment of cervicobrachialgia with encouraging initial results. The ability of arthroplasty to prevent adjacent segment degeneration has yet to be proven. Although dynamic stabilization had not been proven effective in treating chronic low back pain, it might be useful following decompression of lumbar spinal stenosis in degenerative spondylolisthesis. Interspinal devices are useful in mild lumbar spinal stenosis but their efficacy in treating low back pain is yet to be proven. Confronted with a growing number of new technologies clinicians should remain critical while awaiting long term results.

Incidence and management of pulmonary embolism following spinal surgery occurring while under chemical thromboprophylaxis.

Patients undergoing spinal surgery are at risk of developing thromboembolic complications even though lower incidences have been reported as compared to joint arthroplasty surgery. Deep vein thrombosis (DVT) has been studied extensively in the context of spinal surgery but symptomatic pulmonary embolism (PE) has engaged less attention. We prospectively followed a consecutive cohort of 270 patients undergoing spinal surgery at a single institution. From these patients, only 26 were simple discectomies, while the largest proportion (226) was fusions. All patients received both low molecular weight heparin (LMWH) initiated after surgery and compressive stockings. PE was diagnosed with spiral chest CT. Six patients developed symptomatic PE, five during their hospital stay. In three of the six patients the embolic event occurred during the first 3 postoperative days. They were managed by the temporary insertion of an inferior vena cava (IVC) filter thus allowing for a delay in full-dose anticoagulation until removal of the filter. None of the PE patients suffered any bleeding complication as a result of the introduction of full anticoagulation. Two patients suffered postoperative haematomas, without development of neurological symptoms or signs, requiring emergency evacuation. The overall incidence of PE was 2.2% rising to 2.5% after exclusion of microdiscectomy cases. The incidence of PE was highest in anterior or combined thoracolumbar/lumbar procedures (4.2%). There is a large variation in the reported incidence of PE in the spinal literature. Results from the only study found in the literature specifically monitoring PE suggest an incidence of PE as high as 2.5%. Our study shows a similar incidence despite the use of LMWH. In the absence of randomized controlled trials (RCT) it is uncertain if this type of prophylaxis lowers the incidence of PE. However, other studies show that the morbidity of LMWH is very low. Since PE can be a life-threatening complication, LMWH may be a worthwhile option to consider for prophylaxis. RCTs are necessary in assessing the efficacy of DVT and PE prophylaxis in spinal patients.

An intramedullary alignment guide lodging within the femoral canal during total knee arthroplasty: a case report.

The usual complications of total knee arthroplasty include thrombo-embolism, infection, and loosening. We report an unusual and potentially serious complication of an intramedullary guide lodging within the femoral canal during the procedure. Considering the risk of fracture and additional exposure, the guide was not removed and was cut in situ. The rest of the operation was completed successfully and the patient made an uneventfully recovery.

[Low back pain in 2006: back to the root]. / Approche de la lombalgie chronique en 2006: remonter à la source.

Low back pain is a major burden for health care. According to the International Classification of Function, it is a disability of complex origin. Risk factors for chronification are of psychosocial and not physical nature. Primary targets of treatment should be physical fitness and the self-management of problem by the patient. Awareness of the psychosocial factors (yellow, blue and black flags) which can disturb occupational reintegration should be developed. Rehabilitation is based on measures to modify patient's beliefs and fitness. The prescribed treatment should aim to relieve pain, correct disability, prevent relapses, inform and educate the patient. Every low back pain sufferer which does not improve in 1 month should be sent to a team skilled in handling this kind of problem.

[Surgical indications in spinal trauma]. / Lésions traumatiques rachidiennes et indications au traitement chirurgical.

Surgical indications in spinal trauma remain a controversial topic. In general, unstable cervical injuries such as displaced odontoid fractures, burst fractures or tear drop fractures require surgical intervention. Thoracolumbar compression injuries without posterior wall involvement or significant kyphosis can be treated conservatively. Surgery is indicated in fractures-dislocations and burst fractures with significant canal narrowing and/or major kyphosis. The role of emergency decompression as well as that of steroids remain uncertain since no study to date has convincingly proven their efficacy.

[Percutaneous vertebroplasty]. / Vertébroplastie par voie percutanée.

Although vertebroplasty was initially a treatment of vertebral haemangioma or metastases, this procedure is now frequent option to the treatment of osteoporotic vertebral fractures. In this review article, we will discuss the indication, the techniques and the follow-up of the vertebroplasty. This is a risky procedure, which should be performed by experimented physicians working with high-resolution fluoroscopic equipments, by biplane fluoroscopy, to reduce the risk and irradiation to the patient. According to the available follow-up studies, there is clear evidence of a strong improvement of quality of life after vertebroplasty by rapid decreasing of back pain at least during the first six months. Other new studies will analyze the long-term follow-up after vertebroplasty.

Electronic Health Record Application Support Service Enablers.

There is a huge need for open source software solutions in the healthcare domain, given the flexibility, interoperability and resource savings characteristics they offer. In this context, this paper presents the development of three open source libraries - Specific Enablers (SEs) for eHealth applications that were developed under the European project titled "Future Internet Social and Technological Alignment Research" (FI-STAR) funded under the "Future Internet Public Private Partnership" (FI-PPP) program. The three SEs developed under the Electronic Health Record Application Support Service Enablers (EHR-EN) correspond to: a) an Electronic Health Record enabler (EHR SE), b) a patient summary enabler based on the EU project "European patient Summary Open Source services" (epSOS SE) supporting patient mobility and the offering of interoperable services, and c) a Picture Archiving and Communications System (PACS) enabler (PACS SE) based on the dcm4che open source system for the support of medical imaging functionality. The EHR SE follows the HL7 Clinical Document Architecture (CDA) V2.0 and supports the Integrating the Healthcare Enterprise (IHE) profiles (recently awarded in Connectathon 2015). These three FI-STAR platform enablers are designed to facilitate the deployment of innovative applications and value added services in the health care sector. They can be downloaded from the FI-STAR cataloque website. Work in progress focuses in the validation and evaluation scenarios for the proving and demonstration of the usability, applicability and adaptability of the proposed enablers.

Multi-purpose HealthCare Telemedicine Systems with mobile communication link support.

The provision of effective emergency telemedicine and home monitoring solutions are the major fields of interest discussed in this study. Ambulances, Rural Health Centers (RHC) or other remote health location such as Ships navigating in wide seas are common examples of possible emergency sites, while critical care telemetry and telemedicine home follow-ups are important issues of telemonitoring. In order to support the above different growing application fields we created a combined real-time and store and forward facility that consists of a base unit and a telemedicine (mobile) unit. This integrated system: can be used when handling emergency cases in ambulances, RHC or ships by using a mobile telemedicine unit at the emergency site and a base unit at the hospital-expert's site, enhances intensive health care provision by giving a mobile base unit to the ICU doctor while the telemedicine unit remains at the ICU patient site and enables home telemonitoring, by installing the telemedicine unit at the patient's home while the base unit remains at the physician's office or hospital. The system allows the transmission of vital biosignals (3-12 lead ECG, SPO2, NIBP, IBP, Temp) and still images of the patient. The transmission is performed through GSM mobile telecommunication network, through satellite links (where GSM is not available) or through Plain Old Telephony Systems (POTS) where available. Using this device a specialist doctor can telematically "move" to the patient's site and instruct unspecialized personnel when handling an emergency or telemonitoring case. Due to the need of storing and archiving of all data interchanged during the telemedicine sessions, we have equipped the consultation site with a multimedia database able to store and manage the data collected by the system. The performance of the system has been technically tested over several telecommunication means; in addition the system has been clinically validated in three different countries using a standardized medical protocol.

Learning systems in biosignal analysis.

In biosignal analysis, the utility of artificial neural networks (ANN) in classifying electromyographic (EMG) data trained with the momentum back propagation algorithm has recently been demonstrated. In the current study, the self-organizing feature map algorithm, the genetics-based machine learning (GBML) paradigm, and the K-means nearest neighbour clustering algorithm are applied on the same set of data. The aim of this exercise is to show how these three paradigms can be used in practice, given that their diagnostic performance is problem- and parameter-dependent. A total of 720 macro EMG recordings were carried out from four groups, from seven normal, nine motor neuron disease, 14 Becker's muscular dystrophy, and six spinal muscular atrophy subjects, respectively. Twenty-three of the subjects were used for training and 13 for evaluating the various models. For each subject, the mean and the standard deviation of the parameters (i) amplitude, (ii) area, (iii) average power and (iv) duration were extracted. The feature vector was structured in two different ways for input to the models: an eight-input feature vector that consisted of both the mean and the standard deviation of the four parameters measured, and a four-input feature vector that included only the mean of the parameters. Also, due to the heterogenous nature of the spinal muscular atrophy group, three class models that excluded this group were investigated. In general, self-organizing feature map and GBML models resulted in comparable diagnostic performance of the order of 80-90% correct classifications (CCs) score for the evaluation set, whereas the K-means nearest neighbour algorithm models gave lower percentage CCs. Furthermore, for all three learning paradigms: better diagnostic performance was obtained for the three class models compared with the four class models; similar diagnostic performance was obtained for both the eight- and four-input feature vectors. Finally, it is claimed that the proposed methodology followed in this work can be applied for the development of diagnostic systems in the analysis of biosignals.

Healthcare telematic applications in Cyprus.

OBJECTIVES: a) To present a review of ongoing health telematic applications in Cyprus. b) To promote the use of these health telematic applications in the Cyprus region. c) To help in the spin off of other health telematic applications thus enabling the offering of a better health service to the citizens. METHODS AND RESULTS: The health telematics applications include a medical system for emergency telemedicine (AMBULANCE and EMERGENCY-112 projects), a system for the evaluation of the risk of stroke by telemedicine (EROS), a diagnostic telepathology network in gynaecological cancer (TELEGYN), a collaborative virtual medical team for home healthcare of cancer patients (DITIS), and a health telematics training network (HEALTHNET). The paper refers to the set-up and characteristics of these applications and tries to relate them with the health policies that should be applied in Cyprus. CONCLUSIONS: It is anticipated that this paper will promote the importance of health telematics applications for Cyprus and increase the awareness on the possibilities that these applications offer for health policies in all levels of health related human resources.

Genetics-based machine learning for the assessment of certain neuromuscular disorders.

Clinical electromyography (EMG) provides useful information for the diagnosis of neuromuscular disorders. The utility of artificial neural networks (ANN's) in classifying EMG data trained with backpropagation or Rohonen's self-organizing feature maps algorithm has recently been demonstrated. The objective of this study is to investigate how genetics-based machine learning (GBML) can be applied for diagnosing certain neuromuscular disorders based on EMG data. The effect of GBML control parameters on diagnostic performance is also examined. A hybrid diagnostic system is introduced that combines both neural network and GBML models. Such a hybrid system provides the end-user with a robust and reliable system, as its diagnostic performance relies on more than one learning principle. GBML models demonstrated similar performance to neural-network models, but with less computation. The diagnostic performance of neural network and GBML models is enhanced by the hybrid system.

Artificial neural nets in computer-aided macro motor unit potential classification.

The use of macro electromyography to obtain a macro motor unit potential (MMUP) is described. At least 20 potentials are measured from a single muscle to obtain a reasonable estimate of the parameters of an average motor unit potential. The MMUP data are analyzed by means of the peak-to-peak amplitude and the integral of the central 50 ms of the signal. The possibility of using artificial neural networks (ANNs) to analyze the macro data in a way that makes no assumptions about the relationships between the parameters and without recourse to conventional modeling methods is discussed. The results of an analysis carried out on 820 MMUPs recorded from 41 subjects who were classified on the basis of a clinical opinion and the appearance of a muscle biopsy are presented and discussed.

Computer-aided detection of breast cancer nuclei.

A computer-aided detection system for tissue cell nuclei in histological sections is introduced and validated as part of the Biopsy Analysis Support System (BASS). Cell nuclei are selectively stained with monoclonal antibodies, such as the anti-estrogen receptor antibodies, which are widely applied as part of assessing patient prognosis in breast cancer. The detection system uses a receptive field filter to enhance negatively and positively stained cell nuclei and a squashing function to label each pixel value as belonging to the background or a nucleus. In this study, the detection system assessed all biopsies in an automated fashion. Detection and classification of individual nuclei as well as biopsy grading performance was shown to be promising as compared to that of two experts. Sensitivity and positive predictive value were measured to be 83% and 67.4%, respectively. One major advantage of BASS stems from the fact that the system simulates the assessment procedures routinely employed by human experts; thus it can be used as an additional independent expert. Moreover, the system allows the efficient accumulation of data from large numbers of nuclei in a short time span. Therefore, the potential for accurate quantitative assessments is increased and a platform for more standardized evaluations is provided.

Avulsion fracture of the extensor carpi radialis brevis insertion.

Avulsion of the extensor carpi radialis brevis at wrist level is rare. We present a case of an avulsion fracture involving the extensor carpi radialis brevis insertion at the base of the middle finger metacarpal.

Content-based retrieval of breast cancer biopsy slides.

The Biopsy Analysis Support System (BASS), previously used for image analysis of immunohistochemically stained sections of breast carcinoma, has been extended to include indexing and content-based retrieval of biopsy slide images from a database of 57 captured cases. Images from histopathological biopsy slides are described and these are accessed in terms of the properties of either individual nuclei or groups of cell nuclei present in the slide. Visual similarity of cases is specified in terms of a diagnostic index, commonly known as the H-score, which incorporates the heterogeneity of nuclear staining intensity, as well as the percentage of nuclei staining at specific intensities. The system provides a platform that can be exploited in telepathology and teleconsultation, but further research is needed to explore its full potential and accuracy in a diagnostic clinical environment.