Implementing a Statistical Parametric Speech Synthesis System for a Patient with Laryngeal Cancer.

Total laryngectomy, i.e., the surgical removal of the larynx, has a profound influence on a patient's quality of life. The procedure results in a loss of natural voice, which in effect constitutes a significant socio-psychological problem for the patient. The main aim of the study was to develop a statistical parametric speech synthesis system for a patient with laryngeal cancer, on the basis of the patient's speech samples recorded shortly before the surgery and to check if it was possible to generate speech quality close to that of the original recordings. The recording made use of a representative corpus of the Polish language, consisting of 2150 sentences. The recorded voice proved to indicate dysphonia, which was confirmed by the auditory-perceptual RBH scale (roughness, breathiness, hoarseness) and by acoustical analysis using AVQI (The Acoustic Voice Quality Index). The speech synthesis model was trained using the Merlin repository. Twenty-five experts participated in the MUSHRA listening tests, rating the synthetic voice at 69.4 in terms of the professional voice-over talent recording, on a 0-100 scale, which is a very good result. The authors compared the quality of the synthetic voice to another model of synthetic speech trained with the same corpus, but where a voice-over talent provided the recorded speech samples. The same experts rated the voice at 63.63, which means the patient's synthetic voice with laryngeal cancer obtained a higher score than that of the talent-voice recordings. As such, the method enabled for the creation of a statistical parametric speech synthesizer for patients awaiting total laryngectomy. As a result, the solution would improve the quality of life as well as better mental wellbeing of the patient.

Deep Learning-Based Analysis of Face Images as a Screening Tool for Genetic Syndromes.

Approximately 4% of the world's population suffers from rare diseases. A vast majority of these disorders have a genetic background. The number of genes that have been linked to human diseases is constantly growing, but there are still genetic syndromes that remain to be discovered. The diagnostic yield of genetic testing is continuously developing, and the need for testing is becoming more significant. Due to limited resources, including trained clinical geneticists, patients referred to clinical genetics units must be accurately selected. Around 30-40% of genetic disorders are associated with specific facial characteristics called dysmorphic features. As part of our research, we analyzed the performance of classifiers based on deep learning face recognition models in detecting dysmorphic features. We tested two classification problems: a multiclass problem (15 genetic disorders vs. controls) and a two-class problem (disease vs. controls). In the multiclass task, the best result reached an accuracy level of 84%. The best accuracy result in the two-class problem reached 96%. More importantly, the binary classifier detected disease features in patients with diseases that were not previously present in the training dataset. The classifier was able to generalize differences between patients and controls, and to detect abnormalities without information about the specific disorder. This indicates that a screening tool based on deep learning and facial recognition could not only detect known diseases, but also detect patients with diseases that were not previously known. In the future, this tool could help in screening patients before they are referred to the genetic unit.

Prototyping Mobile Storytelling Applications for People with Aphasia.

Aphasia is a partial or total loss of the ability to articulate ideas or comprehend spoken language, resulting from brain damage, in a person whose language skills were previously normal. Our goal was to find out how a storytelling app can help people with aphasia to communicate and share daily experiences. For this purpose, the Aphasia Create app was created for tablets, along with Aphastory for the Google Glass device. These applications facilitate social participation and enhance quality of life by using visual storytelling forms composed of photos, drawings, icons, etc., that can be saved and shared. We performed usability tests (supervised by a neuropsychologist) on six participants with aphasia who were able to communicate. Our work contributes (1) evidence that the functions implemented in the Aphasia Create tablet app suit the needs of target users, but older people are often not familiar with tactile devices, (2) reports that the Google Glass device may be problematic for persons with right-hand paresis, and (3) a characterization of the design guidelines for apps for aphasics. Both applications can be used to work with people with aphasia, and can be further developed. Aphasic centers, in which the apps were presented, expressed interest in using them to work with patients. The Aphasia Create app won the Enactus Poland National Competition in 2015.

[Osteoporosis in orthopedics--disease of civilization]. / Osteoporoza w ortopedii--choroba cywiIizacyjna.

Osteoporosis is classificatied by WHO as one of the main civilizations diseases and is situated on the third place as a cause of death. Epidemiological data indicates that 25% of Polish population after 50 years old risk osteoporotic fractures. Low BMD, which coexist in osteoporosis is the main reason of the osteoporotic fractures. Orthopaedic procedures of osteoporosis and it's main complications--fractures are symptomatic. Orthopaedy tends for new implants technology and modern surgery procedure left the nonoperative treatment as for as possible.

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.

BACKGROUND: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. METHODS: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. RESULTS: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. CONCLUSIONS: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

Applying EMG technology in medial and lateral elbow enthesopathy treatment using Myo motion controller.

Electromyography (EMG) is a diagnostic technique allowing for the detection of signals generated by changes in electrical potentials of striated muscles. The application of this technology is becoming an increasingly popular subject of scientific research. With the appearance of new devices retrieving EMG data, novel methods of its processing for various purposes are being developed. One such device is the Myo movement controller, produced by Thalmic Labs (now North). The device has been used for the analysis of muscle activation levels in patients with "tennis elbow" and "golfer's elbow"-conditions of upper limbs which usually result from occupational injuries. The process of their rehabilitation is complex and requires a continuous monitoring of its progress. The data obtained by means of the Myo controller was used for pattern recognition of an injured hand with relation to the healthy one. The study involved examining ten subjects, including five controls. The results indicate that the muscle activation force is considerably lower in injured individuals. The arithmetic mean for the 6 analyzed motions in the injured group is 38.54% lower. The SmartEMG application ( https://www.smartemg.com ) enables the implementation of procedures performed during an examination as well as those involved in the management of the collected recordings. The study produced satisfactory results, which indicates the possibility of using the Myo controller in the treatment of elbow enthesopathy.

Bridging anticoagulation in patients treated with vitamin K antagonists prior to trochanteric and hip fracture surgeries: The current practice.

BACKGROUND: The strategies of perioperative bridging anticoagulation in orthopedic surgical patients during oral anticoagulation (OAC) therapy with vitamin K antagonists (VKA) vary from center to center. OBJECTIVES: The aim of this single-center study was to assess the risk of bleeding and thromboembolic events (TEs) in bridged patients on VKA who underwent orthopedic surgery due to trochanteric or hip fracture. MATERIAL AND METHODS: The retrospective study included 64 patients (mean age: 80 years) who received VKA for at least 3 months prior to orthopedic procedure. All subjects were bridged with enoxaparin (40 mg once a day). The control group (n = 69) comprised of age-, sexand procedure-matched patients operated on for the same indications, but with neither a history of VKA therapy nor perioperative bridging anticoagulation. RESULTS: Severe postoperative bleeding occurred in 19 (29.7%) patients from the VKA group and in 13 (18.8%) controls (p = 0.16). Within the VKA group, intertrochanteric fractures (52.6%) and femoral neck fractures (47.4%) occurred more often in patients with bleeding than other lower extremity fractures (0%; p = 0.03). Severe adverse events (SAEs) were more common in the VKA group than in the controls (12.5% vs 1.5%; p = 0.01). Patients from the VKA group did not differ from the controls in the incidence of TEs (6.3% vs 8.9%; p = 0.31). No intrahospital mortality was documented. CONCLUSIONS: Prophylactic administration of enoxaparin is a common strategy of bridging anticoagulation in a hospital setting. This approach does not seem to be associated with an increase in thromboembolic risk nor higher risk of bleeding in orthopedic patients who received VKA preoperatively.

Voice alterations in patients with Morquio A syndrome.

Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract. The aim of the study was to assess voice alterations using noninvasive acoustic and electroglottographic voice analysis. Electroglottographic signal and acoustic analyses revealed considerable changes in the voices of patients with Morquio A syndrome when compared to the voices of healthy controls. Affected patients tended toward tense voice, incomplete glottal closure, increased incidence of vocal fold nodules, dysphonia, and hoarse voice. Morquio A syndrome is characterized by connective tissue disease, which adversely affects voice quality. The use of objective voice analysis makes it possible to quantitatively monitor changes in the vocal apparatus over the course of disease progression, and also allows for assessment of the effects of the enzyme replacement therapy.

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

BACKGROUND: Late-onset Pompe disease (LOPD) is a metabolic myopathy disorder characterized by progressive muscle damage and among others dysfunction of the voice apparatus, which affects speech and - above all - voice quality. Symptoms include dysphonia, instability, glottic insufficiency, and tense voice. The aim of this study was to evaluate and compare voice quality disorder in a group of 15 LOPD patients who were first examined in 2014 and then re-examined in 2017. METHODS: In both 2014 and 2017, the same 15 LOPD patients, ranging in age from 15 to 57, from 10 different families, underwent the following examinations: perceptual assessment of voice quality on the RBH scale, electroglottographic recordings, and acoustic recordings. All the patients were on enzyme replacement therapy (ERT). RESULTS: Three years after the 2014 study, the LOPD patients demonstrated a deterioration in voice quality. A statistically significant increase in glottic insufficiency (p = 0.0399) and a shift towards tense voice (p = 0.0417) were observed. Two patients - out of three who had received presymptomatic treatment - demonstrated stable voice quality compared with 2014. CONCLUSIONS: The results suggest increased muscle weakness and progression of LOPD. The parameters Closed Quotient (calculated on the basis of an electroglottographic signal) and Peak Slope (calculated on the basis of an acoustic signal) proved to be the most sensitive.

Altered Plasma Clot Properties and Trauma-Related Venous Thromboembolism despite Thromboprophylaxis.

BACKGROUND: Prothrombotic clot phenotype may characterize patients developing deep vein thrombosis (DVT) despite pharmacological thromboprophylaxis. We studied the role of fibrin clot properties and its potential determinants in individuals who experienced DVT after lower limb injury. METHODS: In a case-control study, we assessed 50 patients who developed DVT despite prophylactic use of low-molecular-weight heparins (the failed thromboprophylaxis group) after a lower limb injury, and three age- and sex-matched control groups, 50 patients each: (1) patients with trauma-related DVT without prior thromboprophylaxis; (2) individuals with unprovoked DVT; (3) patients without history of DVT (the no-DVT controls). Fibrin clot properties, along with thrombin concentration and α2-antiplasmin, were assessed following 3 months of anticoagulation in all DVT patients. RESULTS: Compared with the no-DVT controls, the failed thromboprophylaxis group exhibited denser fibrin networks (12.8% lower clot permeability [Ks], p = 0.0008) and impaired fibrinolysis (46.2% longer clot lysis time [CLT], p = 0.0001 and 8% lower rate of D-dimer release from clots, p = 0.0008). In the unprovoked DVT, similar Ks and 14.9% shorter CLT (p = 0.02) were reported compared with the failed thromboprophylaxis group. The failed thromboprophylaxis patients had higher odds of having elevated peak thrombin generation (>241.5 nM, 90th percentile in the no-DVT controls; odds ratio [OR]: 3.62; 95% confidence interval [CI], 1.86-7.06; p = 0.002), and higher odds of having elevated α2-antiplasmin (>115.05%; OR: 3.38; 95% CI, 1.64-6.98; p = 0.001). CONCLUSION: Patients who experienced DVT despite thromboprophylaxis following lower limb trauma display a strongly prothrombotic fibrin clot phenotype, including increased clot density and hypofibrinolysis associated with higher plasma α2-antiplasmin.

Analysis of voice quality in patients with late-onset Pompe disease.

BACKGROUND: Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Voice quality is the key factor for estimating the effectiveness of ERT in late-onset Pompe disease. The study compared clinical phoniatric examination with electroglottographic, acoustic and nasalance measurement methods. The consistency of the aforementioned analyses was assessed. METHODS: The study examined 19 patients with late-onset Pompe disease (including 9 with the juvenile form of the disease). Of these, a total of 17 patients underwent otolaryngological examination with detailed phoniatric evaluation of their articulatory organs. Electroglottographic recordings and nasalance measurements (using the nasalance Separator Handle) were obtained from all patients. MATLAB (COVAREP toolkit) was used to analyse voice recording data. RESULTS: Dysphonia observed in patients with late-onset Pompe disease is mainly caused by dysfunction of vocal fold closure and weakness of vocal muscle. However, substantial speech nasality is caused by insufficient closure of the soft palate. Electroglottographic signal analysis, acoustic and nasalance testing methods indicated that more significant changes in the function of the voice apparatus presented in the juvenile form than in the adult form of late-onset Pompe disease. CONCLUSIONS: It was found that speech nasality and electroglottographic tests are more repeatable, comparable and versatile than phoniatric examination, allowing for earlier detection of voice pathology in late-onset Pompe disease. These sensitive and non-invasive acoustic and electroglottographic methods allow for the tracking of changes in voice as patients undergo treatment or as the disease progresses.