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Nadzieja w leczeniu rzadkich chorób

Doctor in white suit, blue hand showing no traspassing for bacteries

Spis treści:

  1. Rzadkie choroby i ich znaczenie w medycynie
  2. Sztuczna inteligencja w diagnostyce rzadkich chorób
  3. Jakie są wyzwania w opracowywaniu skutecznych terapii dla rzadkich chorób?
  4. AI w tworzeniu spersonalizowanych terapii
  5. Praktyczne korzyści zastosowania AI w medycynie

Rzadkie choroby i ich znaczenie w medycynie

Rzadkie choroby, definiowane jako te, które dotykają mniej niż jedną osobę na dwa tysiące, stanowią znaczne wyzwanie dla współczesnej medycyny. Osoby cierpiące na takie schorzenia często mierzą się z trudnościami w uzyskaniu dokładnej diagnozy oraz dostępu do skutecznego leczenia. Z powodu rzadkości występowania i ograniczonej wiedzy na ich temat, wiele z tych chorób pozostaje niezrozumiałych i niewystarczająco badanych. To stawia pacjentów w niekorzystnej sytuacji, ale równocześnie otwiera nowe obszary dla zastosowania zaawansowanych technologii, takich jak sztuczna inteligencja, które mogą przyczynić się do zmiany tego stanu rzeczy.

Sztuczna inteligencja w diagnostyce rzadkich chorób

Sztuczna inteligencja (AI) wnosi rewolucję w proces diagnostyczny, oferując narzędzia zdolne do analizy ogromnych zbiorów danych i wykrywania wzorców niemożliwych do zauważenia przez ludzkie oko. W kontekście rzadkich chorób, gdzie standardowe metody diagnozy często zawodzą, AI ma szansę zrewolucjonizować sposób, w jaki podejmowane są decyzje medyczne. Technologie takie jak głębokie uczenie i przetwarzanie danych w czasie rzeczywistym mogą skrócić czas potrzebny na postawienie diagnozy, zwiększając tym samym szanse pacjentów na wczesne rozpoczęcie leczenia.

Jakie są wyzwania w opracowywaniu skutecznych terapii dla rzadkich chorób?

Rzadkie choroby, z uwagi na swoją unikalność i ograniczoną liczbę pacjentów, prezentują wyjątkowe wyzwania w opracowywaniu skutecznych terapii. Jednym z głównych problemów jest brak wystarczających danych, które mogłyby wspomóc rozwój i testowanie nowych leków. To sprawia, że badania kliniczne są trudne do przeprowadzenia, a wyniki mogą nie być statystycznie istotne. Ponadto, ograniczony rynek dla terapii skierowanych na rzadkie choroby często zniechęca firmy farmaceutyczne do inwestowania w kosztowne badania i rozwój.

W odpowiedzi na te wyzwania, niektóre strategie obejmują użycie terapii celowanych genetycznie, które są dostosowane do specyficznych mutacji genetycznych występujących u pacjentów. Dzięki współczesnym technologiom, takim jak CRISPR i edycja genów, otwierają się nowe możliwości dla precyzyjnej medycyny w leczeniu rzadkich schorzeń, co może zrewolucjonizować dostęp do efektywnych i spersonalizowanych opcji terapeutycznych.

AI w tworzeniu spersonalizowanych terapii

AI przenosi personalizację medycyny na nowy poziom, szczególnie w leczeniu rzadkich chorób. Dzięki zdolności do analizowania genotypów, fenotypów oraz innych biomarkerów, algorytmy mogą prognozować odpowiedzi pacjentów na różnorodne terapie. Takie podejście jest nieocenione w przypadkach, gdy konwencjonalne metody leczenia są nieskuteczne, a unikalne cechy choroby wymagają indywidualnie dostosowanych strategii terapeutycznych.

Praktyczne korzyści zastosowania AI w medycynie

Integracja sztucznej inteligencji w medyczne systemy operacyjne przynosi znaczące korzyści, takie jak zmniejszenie kosztów i czasu potrzebnego na diagnozę oraz terapię. AI pozwala także na efektywniejsze wykorzystanie zasobów medycznych, co jest kluczowe w przypadkach rzadkich chorób, gdzie dostęp do specjalistów i zaawansowanych technologii jest często ograniczony. Przez automatyzację wielu procesów diagnostycznych i możliwość monitorowania stanu pacjenta na bieżąco, sztuczna inteligencja może znacznie poprawić jakość życia osób cierpiących na rzadkie choroby, zapewniając im szybszy dostęp do odpowiednich środków terapeutycznych i specjalistycznej opieki.

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Wideo tygodnia z teleskopu Hubble
The NASA/ESA/CSA James Webb Space Telescope has observed the outskirts of our Milky Way galaxy. Known as the Extreme Outer Galaxy, this region is located more than 58 000 light-years from the Galactic centre. To learn more about how a local environment affects the star formation process within it, a team of scientists directed the telescope’s NIRCam (Near-InfraRed Camera) and MIRI (Mid-InfraRed Instrument) toward a total of four star-forming areas within Digel Clouds 1 and 2: 1A, 1B, 2N, and 2S. In the case of Cloud 2S, shown here, Webb revealed a luminous main cluster that contains newly formed stars. Several of these young stars are emitting extended jets of material from their poles. To the main cluster’s top right is a sub-cluster of stars, a feature that scientists previously suspected to exist but has now been confirmed with Webb. Additionally, the telescope revealed a deep sea of background galaxies and red nebulous structures that are being carved away by winds and radiation from nearby stars. Credit: NASA, ESA, CSA, STScI, M. Ressler (NASA-JPL), N. Bartmann (ESA/Webb) Music: Stellardrone - Twilight More information and download options: http://esawebb.org/videos/weic2422a/
Pan of Digel Cloud 2S
The subject of this Hubble Picture of the Week is a spiral galaxy in the constellation Virgo named NGC 5668. It is relatively near to us at 90 million light-years from Earth and quite accessible for astronomers to study with both space- and ground-based telescopes. At first blush, it doesn’t seem like a remarkable galaxy. It is around 90 000 light-years across, similar in size and mass to our own Milky Way galaxy, and its orientation nearly face-on to us shows open spiral arms made of cloudy, irregular patches. One noticeable difference between the Milky Way galaxy and NGC 5668 is that this galaxy is forming new stars 60% more quickly. This fact belies a galaxy with churning clouds and flows of gas, inclement weather that forms excellent conditions for the formation of new stars! Two main drivers of star formation have been identified by astronomers. Firstly, this high-quality Hubble snapshot reveals a bar at the centre; it might look more like a slight oval shape than a real bar, but it appears to have impacted the galaxy’s star formation rate, as central bars do in many spiral galaxies. Secondly, high-velocity clouds of hydrogen gas have been tracked moving vertically between the disc of the galaxy and the spherical, faint halo which surrounds it. These can be produced by the strong stellar winds of hot, massive stars, and they contribute gas to new star-forming regions. The enhanced star formation rate in NGC 5668 comes with a corresponding abundance of supernova explosions. Three have been spotted in the galaxy, in 1952, 1954 and 2004. In this image, Hubble was used to examine the surroundings of the Type II SN 2004G, seeking to study the kinds of stars that end their lives as this kind of supernova. More information and download options: http://esahubble.org/videos/potw2437a/ Credit: ESA/Hubble & NASA, C. Kilpatrick, N. Bartmann (ESA/Hubble) Music: Stellardrone - Endeavour
Pan: NGC 5668
In this week’s Hubble Picture of the Week we are treated to a wonderfully detailed snapshot of NGC 3430. A spiral galaxy, it lies 100 million light-years from Earth in the constellation Leo Minor. Several other galaxies are located relatively nearby to this one, just out of frame; one is close enough that gravitational interaction is driving some star formation in NGC 3430. That NGC 3430 is such a fine example of a galactic spiral may be why it ended up as part of the sample that Edwin Hubble used to define his classification of galaxies. Namesake of the Hubble Space Telescope, in 1926 he authored a paper which classified some four hundred galaxies by their appearance — as either spiral, barred spiral, lenticular, elliptical or irregular. This straightforward typology proved immensely influential, and the modern, more detailed schemes that astronomers use today are still based on it. NGC 3430 itself is an SAc galaxy, a spiral lacking a central bar with open, clearly-defined arms. At the time of Hubble’s paper, the study of galaxies in their own right was in its infancy. With the benefit of Henrietta Leavitt’s work on Cepheid variable stars, Hubble had only a couple of years before settled the debate about whether these ‘nebulae’, as they were called then, were situated within our galaxy or were distant and independent. He himself referred to ‘extragalactic nebulae’ in his paper, indicating that they lay beyond the Milky Way galaxy. Once it became clear that these distant objects were very different from actual nebulae, the favoured term for a while was the quite poetic ‘island universe’. While NGC 3430 may look as if it still deserves this moniker, today we simply call it and the objects like it a ‘galaxy’. More information and download options: http://esahubble.org/videos/potw2430a/ Credit: ESA/Hubble & NASA, C. Kilpatrick, N. Bartmann (ESA/Hubble) Music: Stellardrone - Ascent
Pan: NGC 3430
The Hubble Picture of the Week this week reveals the subtle glow of the galaxy named IC 3430, located 45 million light-years from Earth in the constellation Virgo. It is part of the Virgo cluster, a rich collection of galaxies both large and small, many of which are very similar in type to this diminutive galaxy. IC 3430 is a dwarf galaxy, a fact well reflected by this view from Hubble, but it is more precisely known as a dwarf elliptical or dE galaxy. Like its larger cousins, this galaxy has a smooth, oval shape lacking any recognisable features like arms or bars, and it is bereft of gas to form very many new stars. Interestingly, IC 3430 does feature a core of hot, massive blue stars, an uncommon sight in elliptical galaxies that indicates recent star-forming activity. It’s believed that ram pressure from the galaxy ploughing through gas within the Virgo cluster has ignited what gas does remain in IC 3430’s core to form some new stars. Dwarf galaxies are really just galaxies with not many stars, usually fewer than a billion, but that is often enough for them to reproduce in miniature the same forms as larger galaxies. There are dwarf elliptical galaxies like IC 3430, dwarf irregular galaxies, dwarf spheroidal galaxies and even dwarf spiral galaxies! The so-called Magellanic spiral is a distinct type of dwarf galaxy, too, the best example being the well-known dwarf galaxies that are the Magellanic Clouds. More information and download options: http://esahubble.org/videos/potw2431a/ Credit: ESA/Hubble & NASA, M. Sun, N. Bartmann (ESA/Hubble) Music: Stellardrone - Billions and Billions
Pan: IC 3430
Resting near the centre of the northerly constellation Cepheus, high in the northern sky, is the barred spiral galaxy UGC 11861, the subject of the latest Hubble Picture of the Week. UGC 11861 is located 69 million light-years away from Earth — which may seem a vast distance, but it’s just right for Hubble to grab this majestic shot of the galaxy’s spiral arms and the short but brightly glowing bar in its centre. Among the cloudy gases and the dark wisps of dust, this galaxy is actively forming new stars, visible in the glowing blue patches in its outer arms. This activity has resulted in three supernova explosions being spotted in and nearby UGC 11861, in 1995, 1997 and 2011. The earlier two were both Type II supernovae, a kind which results from the collapse of a massive star at the end of its life. This Hubble image was made from data collected to study Type II supernovae and their environments. More information and download options: http://esahubble.org/videos/potw2434a/ Credit: ESA/Hubble & NASA, C. Kilpatrick, N. Bartmann (ESA/Hubble) Music: Stellardrone - Ascent
Pan: UGC 11861
This stunning new mosaic of images from the NASA/ESA/CSA James Webb Space Telescope showcases the nearby star-forming cluster, NGC 1333. The nebula is in the Perseus molecular cloud, and located approximately 960 light-years away. Webb’s superb sensitivity allows astronomers to investigate young objects with extremely low masses. Some of the faintest ‘stars’ in the picture are in fact newly born free-floating brown dwarfs with masses comparable to those of giant planets. The same cluster was featured as the 33rd anniversary image of the NASA/ESA Hubble Space Telescope in April of 2023. Hubble’s image just scratched the surface of this region, because clouds of dust obscure much of the star formation process. Observing with larger aperture and in the infrared part of the spectrum, Webb is capable of peering through the dusty veil to reveal newborn stars, brown dwarfs and planetary mass objects. The centre of the image presents a deep peek into the heart of the NGC1333 cloud. Across the image we see large patches of orange, which represent gas glowing in the infrared. These so-called Herbig-Haro objects form when ionised material ejected from young stars collides with the surrounding cloud. They are hallmarks of a very active site of star formation. Many of the young stars in this image are surrounded by disks of gas and dust, which may eventually produce planetary systems. Similar to the young stars in this mosaic, our own Sun and planets formed inside a dusty molecular cloud, 4.6 billion years ago. Our Sun didn’t form in isolation but as part of a cluster, which was perhaps even more massive than NGC 1333. The cluster in the mosaic, only 1-3 million years old, presents us with an opportunity to study stars like our Sun, as well as brown dwarfs and free-floating planets, in their nascent stages. More information and download options: http://esawebb.org/videos/potm2408a/ Credit: ESA/Webb, NASA & CSA, A. Scholz, K. Muzic, A. Langeveld, R. Jayawardhana, N. Bartmann (ESA/Webb) Music: Stellardrone - Twilight
Pan: NGC 1333
Looking past its long spiral arms filled with stars and the dark threads of dust crossing it, your eye might be caught by the shining point at the centre of UGC 3478, the spiral galaxy starring in this Hubble Picture of the Week. This point is the galaxy’s nucleus, and indeed there is something special about it: it is a growing giant black hole which astronomers call an active galactic nucleus, or AGN. UGC 3478, located in the constellation Camelopardalis, is what is known as a Seyfert galaxy. This is a type of galaxy with an AGN at its core. Like all such “active galaxies”, the brightness that you see here hides a supermassive black hole at the centre of the galaxy. A disc of gas spirals into this black hole, and as the material crashes together and heats up it emits very strong radiation. The spectrum of this radiation includes hard X-ray emission, which clearly mark it out from the stars in the galaxy. Despite the strong brightness of the compact central region, we can still clearly see the disc of the galaxy around it, which makes the galaxy a Seyfert galaxy. Many active galaxies are known to astronomers at vast distances from Earth, thanks to the great brightness of their nuclei highlighting them next to other, dimmer galaxies. At 128 million light-years from Earth, UGC 3478 is positively neighbourly to us. The data used to make this image comes from a Hubble survey of nearby powerful AGNs found in relatively high-energy X-rays, like this one, which it is hoped can help astronomers to understand how the galaxies interact with the supermassive black holes at their hearts. More information and download options: http://esahubble.org/videos/potw2435a/ Credit: ESA/Hubble & NASA, M. Koss, A. Barth, N. Bartmann (ESA/Hubble) Music: zero project - Eden
Pan: UGC 3478
This Hubble Picture of the Week features the galaxy LEDA 857074, located in the constellation Eridanus. LEDA 857074 is a barred spiral galaxy, with partially broken spiral arms. It also has a particularly bright spot right in its bar: this is a supernova snapped by Hubble, named SN 2022ADQZ, and quite relevant to this Picture of the Week. The NASA/ESA Hubble Space Telescope has observed a vast range of celestial objects, from galaxies, to nebulae, to star clusters, to planets in the Solar System and beyond. Observing programmes usually seek to gather data so that astronomers can answer a specific question. Naturally, this means most scheduled observations target an object that astronomers have already researched. Some are famous, like the Crab Nebula or the globular cluster Omega Centauri; others might not be so well known to the public, but still be featured in hundreds of scientific papers, such as the Spider Galaxy or NGC 4753. Not so with this galaxy: LEDA 857074 is named in fewer than five papers, one of which is the Lyon-Meudon Extragalactic Database itself. Virtually no data have been recorded about it, other than its position: since its discovery, it simply hasn’t been studied. So how did it attract the gaze of the legendary Hubble? The supernova is the answer — SN 2022ADQZ was detected by an automated survey in late 2022, and led to Hubble being pointed at its host galaxy, LEDA 857074, in early 2023. Astronomers have catalogued millions of galaxies, so while today tens of thousands of supernovae are detected annually, the chance that one is spotted in any particular galaxy is slim. We also do not know how actively LEDA 857074 is forming stars, and therefore how often it might host a supernova. This galaxy is therefore an unlikely and lucky target of Hubble, thanks to this supernova shining a spotlight on it! It now joins the ranks of many more famous celestial objects, with its own Hubble image. More information and download options: http://esahubble.org/videos/potw2432a/ Credit: ESA/Hubble & NASA, R. J. Foley, N. Bartmann (ESA/Hubble) Music: Stellardrone - Ascent
Pan: LEDA 857074
Featured in this new image from the NASA/ESA/CSA James Webb Space Telescope is Messier 106, also known as NGC 4258. This is a nearby spiral galaxy that resides roughly 23 million light-years away in the constellation Canes Venatici, practically a neighbour by cosmic standards. Messier 106 is one of the brightest and nearest spiral galaxies to our own and two supernovae have been observed in this galaxy in 1981 and 2014. At its heart, as in most spiral galaxies, is a supermassive black hole, but this one is particularly active. Unlike the black hole at the centre of the Milky Way, which pulls in wisps of gas only occasionally, Messier 106’s black hole is actively gobbling up material. As the gas spirals towards the black hole, it heats up and emits powerful radiation. This image was captured with Webb’s Near-InfraRed Camera (NIRCam). This observation was taken as part of a dedicated programme to study the galaxy’s Active Galactic Nucleus, the galaxy’s bright central region that is dominated by the light emitted by dust and gas as it falls into the black hole. The blue regions in this image reflect stellar distribution throughout the central region of the galaxy. The orange regions indicate warmer dust and the stronger red hues represent colder dust. The teal, green and yellow tones near the centre of the image depict varying gas distributions throughout the region. The galaxy has a remarkable feature – it is known to have two “anomalous” extra arms visible in radio and X-ray wavelengths, rather than in the visible. Unlike the normal arms, these are composed of hot gas instead of stars. Astronomers believe these extra arms result from the black hole’s activity, a feedback effect seen in other galaxies as well. They are likely caused by outflowing material produced by the violent churning of gas around the black hole, creating a phenomenon analogous to a wave crashing up out of the ocean when it hits a rock near the shore. Despite carrying his name, Messier 106 was neither discovered nor catalogued by the renowned 18th century astronomer Charles Messier. Discovered by his assistant, Pierre Méchain, the galaxy was never added to the catalogue in his lifetime. Along with six other objects discovered but not logged by the pair, Messier 106 was posthumously added to the Messier catalogue in the 20th century. More information and download options: http://esawebb.org/videos/potm2407a/ Credit: ESA/Webb, NASA & CSA, J. Glenn, M. Zamani, N. Bartmann (ESA/Webb) Music: Stellardrone - Twilight
Pan video of Messier 106
The distorted spiral galaxy at the centre, the Penguin, and the compact elliptical galaxy at the left, the Egg, are locked in an active embrace. A new near- and mid-infrared image from the James Webb Space Telescope, taken to mark its second year of science, shows that their interaction is marked by a faint upside-down U-shaped blue glow. The pair, known jointly as Arp 142, made their first pass between 25 and 75 million years ago — causing ‘fireworks’, or new star formation, in the Penguin. In the most extreme cases, mergers can cause galaxies to form thousands of new stars per year for a few million years. For the Penguin, research has shown that about 100 to 200 stars have formed per year. By comparison, our Milky Way galaxy (which is not interacting with a galaxy of the same size) forms roughly six to seven new stars per year. This gravitational shimmy also remade the Penguin’s appearance. Its coiled spiral arms unwound, and gas and dust were pulled in an array of directions, like it was releasing confetti. It is rare for individual stars to collide when galaxies interact (space is vast), but the galaxies’ mingling disrupts their stars’ orbits. Today, the Penguin’s galactic centre looks like an eye set within a head, and the galaxy has prominent star trails that take the shape of a beak, backbone, and fanned-out tail. A faint, but prominent dust lane extends from its beak down to its tail. Despite the Penguin appearing far larger than the Egg, these galaxies have approximately the same mass. This is one reason why the smaller-looking Egg hasn’t yet merged with the Penguin. (If one was less massive, it may have merged earlier.) The oval Egg is filled with old stars, and little gas and dust, which is why it isn’t sending out ‘streamers’ or tidal tails of its own and instead has maintained a compact oval shape. If you look closely, the Egg has four prominent diffraction spikes — the galaxy’s stars are so concentrated that it gleams. Now, find the bright, edge-on galaxy at top right. It may look like a party crasher, but it’s not nearby. Cataloged PGC 1237172, it lies 100 million light-years closer to Earth. It is relatively young and isn’t overflowing with dust, which is why it practically disappears in Webb’s mid-infrared view. The background of this image is overflowing with far more distant galaxies. This is a testament to the sensitivity and resolution of Webb’s infrared cameras. Arp 142 lies 326 million light-years from Earth in the constellation Hydra. More information and download options: http://esawebb.org/videos/weic2420a/ Credit: NASA, ESA, CSA, STScI, N. Bartmann (ESA/Webb) Music: Noizefield - Expect the Unexpected
Pan of Interacting galaxies Arp 142 (NIRCam and MIRI image)
This video features two views of the interaction galaxies Arp 142. First shown is the NIRCam image, followed by the combined NIRCam and MIRI image. The distorted spiral galaxy at the centre, the Penguin, and the compact elliptical galaxy at the left, the Egg, are locked in an active embrace. A new near- and mid-infrared image from the James Webb Space Telescope, taken to mark its second year of science, shows that their interaction is marked by a faint upside-down U-shaped blue glow. The pair, known jointly as Arp 142, made their first pass between 25 and 75 million years ago — causing ‘fireworks’, or new star formation, in the Penguin. In the most extreme cases, mergers can cause galaxies to form thousands of new stars per year for a few million years. For the Penguin, research has shown that about 100 to 200 stars have formed per year. By comparison, our Milky Way galaxy (which is not interacting with a galaxy of the same size) forms roughly six to seven new stars per year. This gravitational shimmy also remade the Penguin’s appearance. Its coiled spiral arms unwound, and gas and dust were pulled in an array of directions, like it was releasing confetti. It is rare for individual stars to collide when galaxies interact (space is vast), but galaxies’ mingling disrupts stars’ orbits. Today, the Penguin’s galactic centre looks like an eye set within a head, and the galaxy has prominent star trails that take the shape of a beak, backbone, and fanned-out tail. A faint, but prominent dust lane extends from its beak down to its tail. Despite the Penguin appearing far larger than the Egg, these galaxies have approximately the same mass. This is one reason why the smaller-looking Egg hasn’t yet merged with the Penguin. (If one was less massive, it may have merged earlier.) The oval Egg is filled with old stars, and little gas and dust, which is why it isn’t sending out ‘streamers’ or tidal tails of its own and instead has maintained a compact oval shape. If you look closely, the Egg has four prominent diffraction spikes — the galaxy’s stars are so concentrated that it gleams. Now, find the bright, edge-on galaxy at top right. It may look like a party crasher, but it’s not nearby. Cataloged PGC 1237172, it lies 100 million light-years closer to Earth. It is relatively young and isn’t overflowing with dust, which is why it practically disappears in Webb’s mid-infrared view. The background of this image is overflowing with far more distant galaxies. This is a testament to the sensitivity and resolution of Webb’s infrared cameras. Arp 142 lies 326 million light-years from Earth in the constellation Hydra. More information and download options: http://esawebb.org/videos/weic2420b/ Credit: NASA, ESA, CSA, STScI, N. Bartmann (ESA/Webb) Music: Stellardrone - The Night Sky in Motion
Transition video of interacting galaxies Arp 142 (NIRCam image + MIRI and NIRCam image))
This video takes the viewer on a journey through space to the interacting galaxies known as Arp 142. The distorted spiral galaxy at the centre, the Penguin, and the compact elliptical galaxy at the left, the Egg, are locked in an active embrace. A new near- and mid-infrared image from the James Webb Space Telescope, taken to mark its second year of science, shows that their interaction is marked by a faint upside-down U-shaped blue glow. The pair, known jointly as Arp 142, made their first pass between 25 and 75 million years ago — causing ‘fireworks’, or new star formation, in the Penguin. In the most extreme cases, mergers can cause galaxies to form thousands of new stars per year for a few million years. For the Penguin, research has shown that about 100 to 200 stars have formed per year. By comparison, our Milky Way galaxy (which is not interacting with a galaxy of the same size) forms roughly six to seven new stars per year. Arp 142 lies 326 million light-years from Earth in the constellation Hydra. More information and download options: http://esawebb.org/videos/weic2420c/ Credit: NASA, ESA, CSA, STScI, N. Bartmann (ESA/Webb) Music: Tonelabs – The Red North (www.tonelabs.com)
Zoom into interacting galaxies Arp 142
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