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The Case Study describes the clinical radiographic Surgical Procedure with reconstruction and histopathology Infantile fibromatosis of infratemporal fossa extending to oral cavity and Oropharynx in a two-year-old male child. This condition is rarer in two-year-old child mainly in infratemporal fossa extending to Oropharynx and protruding into oral cavity leading to tremendous suffering of the child for breast feeding, eating with occasional profuse bleeding. The differential diagnosis, management and long term follow up for two years are also mentioned. The need for aggressive surgical management, rare site and operability in this region is very rarer of rarest. The absence of recurrence after 2 years follow up is significant and we can declare the patient is cured from the primary disease. This paper gives guide to how to approach the disease process.

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the genetic landscape of variation in NAA10 and NAA15 in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals with NAA10 variants and 19 individuals with NAA15 variants, which were added to all known cases (N = 106 for NAA10 and N = 66 for NAA15). Although there is clinical overlap between the two syndromes, functional assessment demonstrates that the overall level of functioning for the probands with NAA10 variants is significantly lower than the probands with NAA15 variants. The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with an NAA15 frameshift variant both have microphthalmia. The frameshift variants located toward the C-terminal end of NAA10 have much less impact on overall functioning, whereas the females with the p.Arg83Cys missense in NAA10 have substantial impairment. The overall data are consistent with a phenotypic spectrum for these alleles, involving multiple organ systems, thus revealing the widespread effect of alterations of the NTA pathway in humans.

Bacheloroppgaven tar for seg utvikling og implementering av et IP-basert fjernstyringssytem for en unmanned surface vehicle (USV). Det er også sett på mulighetene for å kjøre Maritime Robotics (MR) sitt OBS på en PLS ved hjelp av programmet Docker. Arbeidet har resultert i en fjernkontroll som kan styre en USV, samt en fullverdig versjon av OBS som kjører via en Docker Container-løsning på en WAGO programmable fieldbus controller (PFC) ved navn PFC200 750-8210. Fjernkontrollen består av en Raspberry Pi (RPi), et egetutviklet kretskort og en joystick. Den gir operatøren det nødvendige grensesnittet og funksjonene som trengs for fartøystyring. Mulighetsrommet for styring av USV-en blir utvidet, ettersom fjernkontrollen kommuniserer direkte med OBS. Dette gjør det mulig å ta i bruk avanserte styringsfunksjoner som for eksempel Station Keeping. MR sitt nåværende fjernkontrollsystem består av en Hetronic-fjernkontroll som kommuniserer direkte med PFC-en ved hjelp av radiofrekvenser. Den har en begrenset rekkevidde, noe som medfører at det må være en Hentronic i hver havn hvor den skal legge til kai. Denne utfordringen blir løst med en IP-basert fjernkontroll som gjør at USV-en kan finmanøvreres fra et kontrollrom og legges til kai hvor som helst i verden. IP-fjernkontrollen er nyskapende og gir nye muligheter for fartøystyring. Gruppens arbeid viste at det var mulig å kjøre OBS på PFC-en med Docker. Docker egnet seg for å løse problemet fordi det gjør det enklere å utvikle programmer på tvers av plattformer. Dette betyr da at man kan kjøre OBS, skrevet i C++, på en enhet som ikke er designet for å kompilere store C++ prosjekter. I arbeidet til gruppen ble det oppdaget en arkitekturforskjell mellom OBS-versjonene fra MR og arkitekturen til PFC-en. Denne hindringen førte til at gruppen prøvde ulike metoder for å få arkitekturene til å samsvare. Den endelige løsningen baserte seg på å bygge en versjon av OBS med lik arkitektur som PFC-en. Dette ble gjort ved å emulere ved hjelp av Docker. OBS-versjonen gruppen lagde er en fullverdig versjon av MR sitt OBS og kan kjøre på PFC-en. Dette ble vist via en simulering og visualisert i vehicle control station (VCS). Rapporten viser til fremtidige muligheter for videreutvikling av systemet. Gruppen har flere tanker om forbedringer av systemet som MR kan ta med seg videre. Fjernstyringssystemet som er laget løser oppgaven på en formålstjenlig måte, og er en intuitiv ny styringsmåte. This bachelor's thesis deals with the development and implementation of an IP-based remote control system for an unmanned surface vehicle (USV). The possibilities to run Maritime Robotics' onboard system (OBS) on a PLC with the help of the Docker application has been reviewed. The work has resulted in a remote control with the ability to control a USV, as well as a full-flegded version of OBS which runs by way of a Docker Container solution. This runs on a WAGO programmable fieldbus controller (PFC) named PFC200 750-8210. The remote control consists of a Raspberry Pi (RPi), a self-developed circuit board and a joystick. It provides the operator with the necessary interface and functions needed for vehicle control. The range of possibilities for controlling the USV is expanded as the remote controller communicates directly with OBS. This makes it possible to use advanced vehicle control functionality, for example Station Keeping. MR's current remote control system consists of a Hetronic remote control that communicates directly with the PFC using radio frequency. It has limited range, which insues that there must be a Hetronic remote controller in every port where it will dock. This challenge is solved by an IP-based remote control that allows the USV to be finely maneuvered from a control room and docked from anywhere in the world. The IP remote control is innovative and offers new possibilities for vehicle control. The group's work showed that it was possible to run OBS on the PFC with Docker. Docker was suited to solve the problem because it makes it easier to develop applications across platforms. This means that one can run OBS, written in C++ on a device that is not designed to compile large C++ projects. Through the group's work an architectural difference was discovered between the OBS versions from MR and the architecture of the PFC. This obstacle led the group to try multiple methods in order to make the architectures match. The final solution was based on building a version of OBS with the same architecture as the PFC. This was done by emulating using Docker. The OBS version the group made is a full-fledged version of MR's OBS and kan run on the PFC. This was shown through a simulation and visualized in vehicle control station (VCS). This thesis shows future possibilities for further development of the system. The group has several thoughts on different improvements to the system that MR could make use of in the future. The remote control system that has been created solves the task in an adequate way, and is an intuitive new way of control.

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the genetic landscape of variation inNAA10andNAA15in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals withNAA10variants and 19 individuals withNAA15variants, which were added to all known cases (N=106 forNAA10and N=66 forNAA15). Although there is clinical overlap between the two syndromes, functional assessment demonstrates that the overall level of functioning for the probands withNAA10variants is significantly lower than the probands withNAA15variants. The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with anNAA15frameshift variant both have microphthalmia. The frameshift variants located toward the C-terminal end ofNAA10have much less impact on overall functioning, whereas the females with the p.Arg83Cys missense in NAA10 have substantial impairment. The overall data are consistent with a phenotypic spectrum for these alleles, involving multiple organ systems, thus revealing the widespread effect of alterations of the NTA pathway in humans.

Our study of 61 children with Ogden Syndrome, an X-linked disorder due to NAA10 gene mutations, demonstrated a high prevalence of growth failure, with weight and height percentiles often in the failure-to-thrive diagnostic range; although dramatic weight fluctuations and phenotypic variability is evidenced in the growth parameters of this population. Although never previously explored in depth, the gastrointestinal pathology associated with OS includes feeding difficulties in infancy, dysphagia, GERD/silent reflux, vomiting, constipation, diarrhea, bowel incontinence, and presence of eosinophils on esophageal endoscopy, in order from most to least prevalent. Additionally, the gastrointestinal symptom profile for children with this syndrome has been expanded to include eosinophilic esophagitis, cyclic vomiting syndrome, Mallory Weiss tears, abdominal migraine, esophageal dilation, and subglottic stenosis. Although the exact cause of poor growth in OS probands is unclear and the degree of contribution to this problem by GI symptomatology remains uncertain, an analysis including nine G-tube or GJ-tube fed probands demonstrates that G/GJ-tubes are overall efficacious with respect to improvements in weight gain and caregiving. The choice to insert a gastrostomy or gastrojejunal tube to aid with weight gain is often a challenging decision to make for parents, who may alternatively choose to rely on oral feeding, caloric supplementation, calorie tracking, and feeding therapy. In this case, if OS children are not tracking above the FTT range past 1 year of age despite such efforts, they should promptly undergo G-tube placement to avoid prolonged growth failure. If G-tubes are not immediately inducing weight gain after insertion, recommendations include altering formula, increasing caloric input, or exchanging a G-tube for a GJ-tube by means of a minimally invasive procedure. Future directions could include a prospective natural history study investigating whether G/GJ tube insertion affects the cognitive trajectory, rate of reaching developmental milestones, and GI symptomatology of OS children in a positive or negative manner.

Bacheloroppgave i radiografi, Høgskulen på Vestlandet, campus Bergen BRA330