Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph

BACKGROUND: Loss of pulmonary function is a main cause of early morbidity and mortality in patients with Duchenne muscular dystrophy (DMD). Standard of care guidelines recommend regular assessment of pulmonary function by hospital-based spirometry to detect onset and monitor progression of pulmonary function decline. OBJECTIVE: To assess the feasibility of home-based monitoring of pulmonary function by a hand-held device (HHD) in adolescent and adult patients with DMD over a period of 12 months. METHODS: In the phase III randomized placebo-controlled DELOS trial in 10-18 year old DMD patients, peak expiratory flow (PEF) measurements were collected weekly at home by the patient (assisted by parent/caregiver) using a peak flow meter HHD. Adherence to the use of the HHD was assessed and 12-month changes in PEF as percent of predicted (PEF% p) for the idebenone (N = 31) and the placebo treatment groups (N = 33) from HHD-derived data were compared to results from hospital-based spirometry. RESULTS: A total of 2689 individual HHD assessments were analysed. Overall adherence to the use of the HHD over the course of the 12-month study duration was good (75.9%, SD 21.5%) and PEF% p data obtained at the same day by HHD and standard spirometry correlated well (Spearman's rho 0.80; p < 0.001). Several analysis methods of HHD-derived data for PEF% p consistently demonstrate that idebenone treatment slowed the decline in PEF% p compared to placebo, which supports the statistically significant difference in favour of idebenone for PEF% p measured by standard spirometry. CONCLUSIONS: This study demonstrates that home-based monitoring of pulmonary function in adolescent patients with DMD using a HHD is feasible, provides reliable data compared to hospital-based spirometry and is therefore suitable for use in clinical practice and for clinical trials

Transient modification of lin28b expression - Permanent effects on zebrafish growth

Recent genome-wide association studies and mouse models have identified LIN28B as a gene affecting several pubertal timing-related traits and vertebrate growth. However, the exact biological mechanisms underlying the associations remain unknown. We have explored the mechanisms linking LIN28B with growth regulation by combining human gene expression data with functional models. Specifically, we show that 1) pubertal timing-associated genetic variation correlates with LIN28B expression in the pituitary and hypothalamus, 2) downregulating lin28b in zebrafish embryos associates with aberrant development of kiss2-neurons, and 3) increasing lin28b expression transiently by synthetic mRNA injections during embryogenesis results in sustained enhancement of zebrafish growth. Unexpectedly, the mRNA injections resulted in advanced sexual maturation of female fish, suggesting that lin28b may influence pubertal timing through multiple developmental mechanisms. Overall, these results provide novel insight into LIN28B function in vertebrate growth regulation, emphasizing the importance of the gene and related genetic pathways for embryonic and juvenile development.Peer reviewe

Games as Design Medium Utilizing Game Boards for Design Enquiry with Cancer Patients

Abstract As the view of patients as passive receivers of care is changing towards more active participants in the healthcare process, hospitals are gearing up to provide more patient-centric services. At the same time, they are under increasing pressure to do more with stretched resources and demographic changes. To this end, service design has been utilized in many institutions to provide insights gathered from stakeholders and to design services to that focus on the patient. However, hospitals as a unique design context provide specific constraints for the design process. This paper presents a method of enquiry that was developed during an experimental service design project in which services were developed for sarcoma-type cancer patients. The method borrows visualizations, tangible props and actions from the world of games to assist the patients in the interviews to remember, understand and communicate their patient experiences. The patient journey was visualized in the form of a board game and physical props used by the patients to indicate significant people and events during their care. The game board acted as a design medium, both presenting information for the participants and engaging them to communicate personal and sensitive experiences. It was observed that in addition to the patients, the hospital staff was drawn to the game board as a way of representing information about the patient journey in an easily accessible way. The feasibility of the method was evaluated in the action and fine-tuned during the process. This paper describes the context of the case, the method developed and discusses the implications of this method for design research in services

Quantitative analysis of the perfusion in the kidneys, liver, pancreas, small intestine and mesenteric lymph nodes in healthy cats using contrast enhanced ultrasound

Peer reviewe

Puhesynteesin ja suun liikkeen toteutus robotille

Tiivistelmä. Ihmiset kommunikoivat keskenään sekä verbaalisesti, että nonverbaalisesti. Ihmisten verbaalisen viestinnän, eli puheen, ja ihmisäänen tutkimusta kutsutaan fonetiikaksi ja sitä hyödynnetään robotiikassa keinotekoisen puheen eli puhesynteesin toteuttamisessa. Sosiaalisten robottien yleistyessä on tärkeää, että ihminen-robotti-vuorovaikutus olisi mahdollisimman luontevaa. Varsinkin kasvot ovat avainasemassa vuorovaikutuksessa, ja robotin visuaalinen suu tekee vuorovaikutuksesta ihmiselle mielekkäämpää, sekä auttaa puheen ymmärtämisessä. Myös robotin puheen ja leuan liikkeen synkronointi on tärkeässä roolissa ’uncanny valley’ -ilmiön välttämisessä. Tässä projektissa toteutettiin puhesynteesi ja leuan liike InMoov-robotille. Leuan liike toteutettiin Dynamixel XL-320-servolla, jota kontrolloitiin Arduino UNO:lla. Puhesynteeseinä toteutettiin formanttisynteesi ja konkatenaatiosynteesi sekä mies-, että naisäänellä. Molempia puhesynteesejä sekä puheen ja suun liikkeen synkronisaatiota arvioitiin subjektiivisesti itse kehitetyillä numeerisilla asteikoilla. Konkatenaatiosynteesi saavutti arvosanan 3/5, mikä tarkoittaa, että puheen välittämä viesti on ymmärrettävissä, formanttisynteesi arvosanan 2/5, mikä tarkoittaa, että puheen välittämä viesti jää epäselväksi, ja synkronisaatio arvosanan 3/4, mikä tarkoittaa, että synkronisaatio on suurimman osan ajasta hyvä. Projektissa hyödynnettiin apuna metakäyttöjärjestelmää Robot Operating System (ROS). Ohjelmistokomponenteista toteutettiin ROS-paketti, jonka toiminnallisuus koostuu kahdesta keskenään kommunikoivasta ROS-solmusta, joista toinen vastaa servon kontrolloimisesta ja toinen puhesynteesistä. Projektissa toteutettuja komponentteja voidaan hyödyntää tulevaisuudessa esimerkiksi ihminen-robotti-vuorovaikutuksen tutkimiseen ja erilaisten havaintoesitysten toteuttamiseen. Jatkossa puhesynteesin ja leuan liikkeen synkronisaatiota voitaisiin parantaa toteuttamalla monipuolisempia leuan asentoja sekä selkeyttämällä puhesynteesejä.Abstract. Humans communicate with each other both verbally and non-verbally. The research of verbal human communication and human voice is called phonetics and it can be utilized in robotics to produce artificial speech, ergo speech synthesis. As social robots become more common it is important for human-robot interaction to be as natural as possible. Especially faces are key components in interaction and robot’s visual mouth makes the interaction more pleasant to humans and helps them in understanding speech better. The synchronisation of the robot’s speech and mouth movement also plays an important role in avoiding the ’uncanny valley’ phenomenon. In this project two speech syntheses and motion of jaw were implemented for InMoov-robot. The motion of the jaw was implemented with Dynamixel’s XL-320 servomotor controlled by Arduino UNO. Two different speech syntheses were implemented: formant synthesis and concatenation synthesis with both female and male voices. Both of the speech syntheses and the synchronization of the speech and mouth movement were evaluated on self-made subjective numerical scales. The concatenation synthesis accomplished a grade of 3/5, which means that the speech was comprehensible. The formant synthesis accomplished a grade of 2/5, which means the speech was quite incoherent. Last but not least, the synchronization accomplished a grade of 3/4, which means the synchronization was good most of the time. The project utilizes a meta-operating system called Robot Operating System (ROS). The two software components implemented in this project comprise a ROS package consisting of two ROS nodes; one responsible for servo control and the other for speech synthesis. In the future these components can be utilized in research of human-robot interaction and in different demonstrations. The synchronisation of the jaw movement and speech could be improved by implementing more options for the position of the jaw and by enhancing the speech syntheses to sound more natural