bluuebunny/crossref_metadata_2025_split huggingface dataset:
Partial trisomy on chromosome 7 (7q) is a rare condition resulting from duplication of the 7q long arm. It is usually associated with delayed psychomotor development, characteristic phenotypic features and profound learning disabilities. The clinical pict
Authors: Farago Emica , Jukić Matea 
Published: November 2024

Parcijalna trisomija 7q (7q) rijetka je genetička pogrješka defi nirana duplikacijom dugog kraka 7. kromosoma. Karakterizirana je višestrukim teškoćama u spoznajnom i motoričkom razvoju, karakterističnim obilježjima fenotipa i teškoćama učenja. Klinička slikaje vrlo varijabilna i ovisi o količini dupliciranog segmenta.Cilj ovog rada bio je standardiziranim mjerenjima ispitati opseg receptivnog rječnika, razumijevanje gramatike, usvojenost predvještina čitanja i pisanja, govorno-motoričke i pripovjedne sposobnosti te kakvoću glasa dječaka s parcijalnom trisomijom 7q. Dječakova dob je bila 7 godina i 10 mjeseci. Obradom podataka utvrđeno je da dječak ima smanjen opseg receptivnog rječnika,postiže umjereno nizak rezultat na TROG-2:HR testu razumijevanja gramatike, govorno-motoričke sposobnosti su narušene kao ikakvoća glasa te su vidljive teškoće u grafomotoričkoj izvedbi i zadatcima vizualne percepcije. Dječak ima usvojene neke predvještinečitanja i pisanja. Uredno postignuće pokazuje na varijablama raščlambe rečenice na riječi, varijabli fonemske svjesnosti i fonološkogimenovanja velikih i malih slova
Prader-Willi syndrome is a rare and complex genetic disorder that disrupts the function of multiple organ systems due to the absent expression of paternal genes from chromosome 15q11.2-q13. It is characterized by hypotonia found in neonatal period, which
Authors: Stipančić Gordana , Šepec Marija Požgaj , Sabolić Lavinia La Grasta 
Published: November 2024

Prader Willi sindrom (PWS) rijedak je i složen genetički poremećaj koji remeti funkciju više organskih sustava, a posljedica je izostankaizražaja očevih gena u regiji 15q11.2-q13. Klinički je obilježen sniženim tonusom mišića već od novorođenačke dobi, što remeti hranjenje i napredovanje. Ubrzo se razvija hiperfagija koja dovodi do morbidne debljine. Unatoč debljini djeca su smanjenog rasta,a izostaje i spolni razvoj. Zaostaju u motoričkom i govornom razvoju, uz blago do umjereno kognitivno oštećenje i promjene ponašanja. Bolest je obilježena brojnim komplikacijama, prvenstveno povezanih s debljinom. U Europi incidencija PWS-a procjenjuje se na oko 1:30 000 živorođene djece, a prevalencija u općoj populaciji iznosi 1:50000. Za tijek bolesti od presudne je važnosti štoranije genetičkom analizom potvrditi dijagnozu i započeti liječenje uz multidisciplinski pristup. Potrebno je osigurati kontrolu unosahrane i time spriječiti razvoj debljine, te habilitacijskim mjerama poboljšati djetetov psihomotorički razvoj. Posljednjih godina u liječenje je uključen i hormon rasta (HR), jer je u većine djece dokazan njegov defi cit. HR ubrzava rast, poboljšava konačnu visinu ipozitivno utječe na kompoziciju tijela učinkom na količinu masnog i mišićnog tkiva. Provodi se i nadoknada spolnih hormona tetiroksina u slučaju hipogonadizma, odnosno hipotireoze. Važno je da liječnici budu upoznati s potrebom rane dijagnoze ove rijetkebolesti i terapijskim mogućnostima koje su dostupne kako bi se poboljšala kakvoća života i produžio životni vijek oboljelih.
Pimekrolimus u lokalnom liječenju atopijskog dermatitisa
Authors: Rezaković Saida , Kostović Krešimir , Čeović Romana 
Published: November 2024

Pimekrolimus je topički (lokalni) inhibitor kalcineurina. Riječ je o makrolaktamu s imunosupresivnim svojstvima. Pimekrolimus je prviizbor u lokalnom liječenju atopijskog dermatitisa na osjetljivim i tankim područjima kože lica (osobito na području vjeđa), vrata,spolovila, aksila i prepona, kao i za duže liječenje. Uz to se preporučuje kao drugi izbor kod bolesnika s blagim do umjereno teškimatopijskim dermatitisom koji ne podnose lokalne kortikosteroide ili kod izostanka djelovanja lokalnih kortikosteroda. Pravodobnomupotrebom pimekrolimusa mogu se spriječiti jače egzacerbacije bolesti kao i produljiti razdoblje remisije. Učinkovito smanjuje svrbežkao vodeći simptom atopijskog dermatitisa unutar 48 sati od početka liječenja. Pimekrolimus značajno poboljšava kakvoću životabolesnika i njihovih roditelja i smanjuje potrebu za primjenom kortikosteroida. Ima dobru podnošljivost i sigurnosni profl i. Za razlikuod kortikosteroida ne dovodi do atrofi je kože i ne povećava učestalost nastanka kožnih infekcija. Najčešća neželjena pojava je prolazni osjećaj topline ili pečenja na mjestu primjene lijeka tijekom prvih nekoliko dana. Napokon, u oko 80% bolesnika s atopijskimdermatitisom indicirana je primjena pimekrolimusa, dok je kortikosteroide na lice i ostala osjetljiva područja dopušteno primjenji vatiiznimno, i to najviše 3-4 dana.
Endoskopsko liječenje subluksacije peronealnih tetiva u trinaestogodišnjeg dječaka
Authors: Bojanić Ivan , Dimnjaković Damjan , Smoljanović Tomislav , Lovrić Dražen 
Published: November 2024

Subluksacija peronealnih tetiva unutar omotača novi je klinički entitet koji danas možemo uspješno liječiti tendoskopijom peronealnih tetiva. Bolesnici se, bez ikakvih podataka o ranijoj ozljedi gležnja, žale na vidljiv i palpabilan preskok peronealnih tetivakoji moguizazvati jedino sami, i to aktivnom, maksimalnom kretnjom dorzifl eksije i everzije stopala i gležnja, dok se nikakvom pasivnomkretnjom gležnja on ne može izazvati. Opisana su dva tipa subluksacije: u tipu A tetiva peroneusa longusa subluksira se ispred tetiveperoneusa brevisa, dok se u tipu B tetiva peroneusa longusa subluksira kroz uzdužni rascjep na tetivi peroneusa brevisa, akarakteristično je da oba tipa subluksacije nastaju bez ozljede gornjeg peronealnog retinakula. Od slikovnih metoda od pomoći udijagnostici je dinamički UZV, dok MR i CT pomažu u eventualnom uočavanju uzroka nastanka subluksacije peronealnih tetiva teplaniranju kirurškog liječenja, jer se neoperacijsko liječenje pokazalo nedostatnim. Prikazujemo slučaj trinaestogodišnjeg dječaka ukojeg smo dijagnosticirali tip A subluksacije peronealnih tetiva i kojeg smo uspješno izliječili tendoskopijom peronealnih tetiva. Prednosti ovog minimalno invazivnog kirurškog zahvata su bolji estetski rezultat, manja poslijeoperacijska bolnost, brža poslijeoperacijska rehabilitacija i zadovoljniji bolesnici. Valja istaknuti još jednu prednost, a to je mogućnost konverzije u otvoreni kirurškizahvat u slučaju potrebe.
Sindrom Galloway-Mowat – prikaz bolesnika
Authors: Košuljandić Đurđica , Arapović Adela , Rogulj Marijana , Tomasović Maja , Čulić Vida , Meštrović Julije , Stričević Luka , Durdov Merica Glavina , Saraga Marijan 
Published: November 2024

Prikazom ove bolesnice naglašavamo kako udruživanje nefrotskog sindroma, mikrocefalije i cerebelarne atrofi je u ranoj životnojdobi može biti rijetko opisivani Galloway-Mowatov sindrom (GMS). GMS obično prati kongenitalni ili rani dojenački nefrotskisindrom te progresivno gubljenje djetetovih neuroloških funkcija, katkad uz postojanje hijatus hernije. Bolesnici imaju lošu prognozui umiru u prvim godinama života. Iako se drži da se prenosi autosomno recesivno, odgovorni gen ili geni još je/su nepoznati. Iakopatohistološki nalaz također varira od minimalnih promjena do glomeruloskleroze, u podlozi bubrežne bolesti najčešće se nađe difuzna mezangijska skleroza. Mi opisujemo slučaj djevojčice s nefrotskim sindromom kao posljedicom difuzne mezangijske skleroze, mikrocefalijom, dismorfi jom lica, hipotrofi čnim cerebelumom i atrofi jom vermisa, progresivnim neurološkim propadanjem, kojana kraju umire zbog multiorganskog zatajenja.
Prijelomi ključne kosti u zdrave donošene novorođenčadi
Authors: Zakanj Zora 
Published: November 2024

Porođajne ozljede su čest razlog novorođenačkog pobola u inače zdrave novorođenčadi, s incidencijom od 0,2% do 37%. Prijelomključne kosti je najčešći među ozljedama kostiju u novorođenčeta. Cilj ove retrospektivne analize je utvrđivanje učestalosti prijelomaključne kosti u rodilištu naše ustanove tijekom jedne godine i prikaz perinatalnih okolnosti u kojima smo zabilježili te ozljede. Ujednogodišnjem razdoblju (od 01. 01.-31. 12. 2010.), u rodilištu je evidentirano 19-ero novorođenčadi s prijelomom ključne kosti.Analizirali smo podatke s majčine strane i s one novorođenčeta. Učestalost prijeloma ključne kosti u našem ispitivanju je 0,7%. Desnostrani prijelom je češći nego ljevostrani (61,7% : 36,8%). Nema statistički značajne razlike u porođajnoj masi dječaka i djevojčicas prijelomom ključne kosti (χ2=3,753, p>0,05). Samo jedno novorođenče s prijelomom ključne kosti rođeno je carskim rezom, a svaostala su rođena prirodnim putem (94,7%). Dvoje novorođenčadi (10,5%) imalo je frakturu zelenog drveta, a 17-ero (89,5%) imalo jepotpunu frakturu. Jedno dijete je uz prijelom ključne kosti imalo i prijelom lopatice. Kod ostalih ispitanika nisu nađeni drugi prijelomini koštane anomalije. Nijedno dijete nije imalo pridruženu Erbovu paralizu. Svi su prijelomi zacijeljeli bez komplikacija. Prijelomiključne kosti u novorođenačkoj dobi u našem rodilištu su na donjoj granici pojavnosti u odnosu na rezultate dosadašnjih studija iprognostički su povoljan oblik porođajne ozljede.
: pharmacogenetics; drug toxicity; cytochrome P-450 enzyme system; TPMT; genetic testing
Authors: Božina Nada , Pejnović Lana 
Published: November 2024

Varijabilnosti u učinku lijeka mogu se djelomično objasniti genetičkim razlikama. Postoje interindividualne razlike u metaboličkom itransportnom kapacitetu i detoksikaciji lijekova i drugih ksenobiotika. Osjetljivost na toksične učinke jednim dijelom ovisi ogenetičkom polimorfi zmu metaboličkih enzima faze I. i faze II. Za kliničku praksu najvažniji polimorfi zmi u fazi I. su CYP2C9, CYP2C19,CYP2D6 i CYP3A4/5, a u fazi II. su TPMT, UGT1A1, NAT2, SULT. Najjasniji utjecaj imaju inaktivirajući i aleli s pojačanim učinkomCYP2C19 na ishod liječenja klopidogrelom, kao i ozbiljne nuspojave na primjenu kodeina u vrlo brzih metabolizatora za CYP2D6.Drugi je značajan utjecaj zapažen u slučaju neučinkovitosti antidepresiva, suicidalnost u osoba vrlo brzih metabolizatora, te nuspojave lijekova u sporih metabolizatora za CYP2D6. Bolesnici nositelji neaktivnih alela CYP2C9 imaju povećan rizik predoziranjalijekovima-supstratima, što može dovesti do intoksikacije fenitoinom, ili krvarenja u slučaju kumarinskih antikoagulanata ili nesteroidnih protuupalnih lijekova. Postoje smjernice za genotipizaciju TPMT u slučaju primjene tiopurinskih lijekova, kao i pre poruke za analizu UGT1A1 za optimizaciju terapije irinotekanom te DPYD u slučaju primjene 5-fl uorouracila. Od transportnih proteinapreporučuje se genotipizacija SLCO1B1 za bolju prevenciju nuspojava pri primjeni statina. Najnovije smjernice ističu snažnu predispoziciju nositelja alela HLA-B*5701 za razvoj preosjetljivosti na abakavir. Za bolje razumijevanje varijabilne učinkovitost nekoglijeka u pedijatrijskoj populaciji potrebno je, uz genetičku predispoziciju, razumjeti i razlike u ekspresiji gena tijekom rasta i razvoja, tj.ontogenezu.
Recruitment and polarization typing of tumor-associated macrophages is associated with tumor progression and poor prognosis in Wilms tumor patients
Authors: Wang Zhang , Jin Liming , Wang Jinkui , Tian Xiaomao , Mi Tao , Li Mujie , Zhang Zhaoxia , Wu Xin , Li Maoxian , Liu Jiayan , Wang Zhaoying , Liu Yimeng , Luo Junyi , Ren Chunnian , He Dawei 
Published: November 2024

Purpose
Tumor-associated macrophages (TAMs) play a crucial role in shaping various tumor microenvironments. However, their recruitment in Wilms tumor (WT), the predominant malignant renal tumor in children, has been inadequately explored. This retrospective cohort study involved the analysis of 148 WT samples to investigate the recruitment and polarization typing of TAMs in WT tissues.

Methods
WT tissues underwent Western blotting (WB), reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and immunofluorescence (IF) to measure the expression of TAM markers CD68, CD86, and CD163. Statistically analyze the relationship between TAM recruitment levels and patient clinical characteristics, and use Kaplan-Meier curves and the log-rank test to evaluate the association between TAM levels and survival outcomes.

Results
The findings indicated a positive correlation between the recruitment levels of total macrophages (Mtotal) and M2 tumor-associated macrophages (M2 TAM) in both chemotherapy and non-chemotherapy groups with the clinical stage. Elevated recruitment of Mtotal and M2 TAM in tumor tissues was linked to a poorer prognosis. Notably, patients with persistently higher recruitment of M2 TAM following preoperative chemotherapy exhibited the worst prognosis.

Conclusions
The recruitment and polarization typing of TAM exhibit significant differences in WT patients with various stages and prognosis outcomes, suggesting a potential avenue for future diagnosis and treatment of WT.
Improved emergency activation in interventional radiology reduces procedure delay and facilitates treatment success in patients with acute arterial bleedings
Authors: Nadjiri Jonathan , Mühlmann Marc , Waggershauser Tobias , Geith Tobias , Paprottka Philipp M. 
Published: November 2024

Background
Research of interventional treatment success in arterial bleeding cases is almost exclusively focused on technical and procedural factors. This study investigates the effect of an improved preprocedural activation algorithm for acute arterial bleedings treated by interventional radiology.

Methods
During the three-year study period (2018–2021), the authors implemented an always-reachable, simple-to-remember emergency phone number routed to the responsible interventional radiologist on call and compared this pathway to the previous activation process. Data were acquired for all emergency cases with active arterial bleeding detected in CT scans and the diagnosis to treatment intervals before and after implementation were retrospectively analysed. Time signatures in CT and angiography were used to determine the interval.

Results
1322 calls or contacts occurred during the study period. In general, 625 emergency procedures were conducted; 120 bleeding interventions met the study requirements. In the study 44 patients were treated via the conventional pathway and 76 via the emergency phone activation. The activation algorithm utilizing the emergency phone led to a slight decrease in radiation doses and fluoroscopy time and a significant reduction (15min) in diagnosis to treatment intervals (p = 0.019). After implementing the emergency phone, the technical success rate increased significantly from 68% to 94% (p<0.001).

Conclusions
This study shows that effective communication structures, such as implementing a standardized activation pathway via an emergency phone, can significantly reduce diagnosis to treatment intervals and increase technical success rates. Effective communication is crucial for interventional radiology to deal with acute and life-threatening conditions requiring immediate treatment. This study presents a possible improvement and provides valuable insight for interventional radiology clinics seeking to optimize their communication and management strategies for emergency cases.
Cost-effectiveness of midomafetamine-assisted therapy (MDMA-AT) in chronic and treatment-resistant post-traumatic stress disorder of moderate or higher severity: A health-economic model
Authors: Stanicic Filip , Zah Vladimir , Grbic Dimitrije , De Angelo Debra 
Published: November 2024

Objective
To explore the cost-effectiveness of midomafetamine-assisted therapy (MDMA-AT) compared to placebo with therapy (PT) in US healthcare settings.

Methods
A health state-transition model was used to analyze the cost-effectiveness of MDMA-AT for treating patients with chronic PTSD of moderate or higher severity. Both treatment arms consisted of 3 preparation (90-min), 3 interventional (8-h), and 9 integration (90-min) sessions, lasting ~4 months total. All sessions included psychotherapy, with interventional also including MDMA or placebo. After receiving treatment, patients were distributed across health states of No PTSD (not meeting PTSD diagnostic criteria), Non-Severe PTSD (treatment responders), Severe PTSD (treatment non-responders), and death. Each state had unique healthcare costs and utilities sourced from real-world data analysis and patient data from MDMA-AT clinical trials (including long-term follow-up). The base-case analysis considered the payer’s perspective with a 5-year horizon, 3.5% annual cost and effect discounts, and an assumed MDMA medication price of $12,000 per session. Trial-derived utilities and US life tables mortality data were used to calculate quality-adjusted life years (QALY). The main outcome was an incremental cost-effectiveness ratio (ICER) with a $150,000 willingness-to-pay (WTP) threshold.

Results
The base-case ICER was $83,845 per QALY. Total direct costs were $64,745 in the MDMA-AT and $33,132 in the PT arms ($31,613 increment). The costs of intervention were $48,376 for MDMA-AT and $12,376 for PT. The highest MDMA medication cost to fit under the WTP threshold was $20,314 per session. Costs related to PTSD healthcare visits and other PTSD treatments were lower with MDMA-AT than PT (-$2,511 and -$1,877 increments, respectively). Utility benefits were higher in MDMA-AT than PT, with 3.691 and 3.314 QALYs generated over 5 years, respectively (0.377 QALY increment).

Conclusion
These data suggest MDMA-AT may be a cost-effective treatment compared to PT for patients with chronic PTSD of moderate or higher severity.
Diffamierung in der Commedia
Authors: Meier Franziska 
Published: November 2024

Riassunto
L’articolo s’interroga sulle tracce che la »cultura della vendetta« in cui Dante viveva a Firenze come altrove in Italia potrebbe aver lasciato sulla immaginazione e scrittura del poeta. Dopo aver analizzato alcuni passi da cui si è soliti dedurre il suo atteggiamento nei confronti di questa prassi della vendetta, l’articolo indaga in quale maniera i ritratti dei peccatori possano essere considerati come trasposizioni letterarie delle »pitture infamanti« che la giustizia aveva introdotto nel corso del Duecento. Infine, sonda la maniera in cui i ritratti diffamatori danteschi, in effetti, sono stati recepiti da lettori contemporanei e moderni.
Flexural and vibration behaviours of novel covered CFRP composite joints with an MWCNT-modified adhesive
Authors: Karthikeyan Natesan , Naveen Jesuarockiam , Rajesh Murugan , Mallikarjuna Reddy Degalhal , Sudhagar P. Edwin , Norrrahim Mohd Nor Faiz , Knight Victor Feizal 
Published: November 2024

Abstract
Co-curing bonding is more efficient than co-bonding and secondary bonding for structural component assembly. This work used novel covered laminas with co-cured joining techniques (CL-CCT) to create carbon fibre-reinforced polymer (CFRP) composite adhesive-bonded joints. Additionally, the researchers evaluated how multi-walled carbon nanotubes (MWCNTs) affect the bending and dynamic properties of CFRP composite joints. The researchers added various weights of MWCNTs to the covered laminas along with co-cured CFRP adhesive-bonded joints. The study revealed that epoxy and 0.25 wt% MWCNT adhesive produced the strongest and most flexible joints. These joints were 118 and 15% stronger than joints made from pure epoxy CL-CC CFRP, respectively. Compared to pure epoxy CC-CFRP composite joints, the strength of CL-CC CFRP composite joints with 0.25 wt% MWCNTs increased by 374 and 109%, respectively. Interestingly, MWCNTs with a wt% of 1.25 had the greatest natural frequency in all three vibration modes, which are 19, 19, and 13% higher than that of the pure epoxy CL-CC CFRP composite joint. There are 28, 30, and 24% more natural frequencies in 1.25 wt% MWCNT-based CL-CC CFRP composite joints than those in pure epoxy-based joints in all three modes. Analysis of variance was employed for statistical investigation. Optimization and prediction were done using an artificial neural network and the Levenberg–Marquardt technique.
Folk perceptions and evaluations of L2-accented Icelandic with regard to pleasantness and correctness
Authors: Bade Stefanie 
Published: November 2024

Abstract
Numbers of first-generation L2 speakers of Icelandic have risen substantially in the past three decades in Iceland, with L2 accents now being perceivable in all parts of society. This development sparks questions as to how those accents are perceived and evaluated by L1 speakers of Icelandic, particularly in the light of the role of the Icelandic language as a key element in the construction and maintenance of Icelandic national identity and Iceland’s ideology of linguistic purism, and the fact that there is little formal variation in Icelandic. Drawing on methods and concepts established by folk linguistics, this qualitative study involved five focus groups with thirty-two participants, employing a semi-structured interview guide. The L1-speaker participants were presented with six verbal guises: one L1 speaker and five L2 speakers of Icelandic. The participants elaborated on their perception of those guises according to the concepts of pleasantness and correctness. Several themes emerged as the data were analysed. Results indicate that evaluations of L2 accent are affected by perceptions of listener effort as to both pleasantness and correctness. Perceptions of familiarity with L2 accents emerged as a significant theme in terms of pleasantness, while the results suggest that the correctness concept might not apply to evaluations of L2 speech in the Icelandic context.
Icelandic on Facebook: Linguistic practices in an informal communication space
Authors: Isenmann Vanessa M. 
Published: November 2024

Abstract
This article is based on a PhD project that addressed the multilingual digital practices of native Icelandic speakers in so-called “computer-mediated communication” (CMC) and more specifically on Facebook. The research draws on new literacy studies as well as linguistic research on multilingualism in the context of digital environments to investigate the digital practices of Icelandic Facebook users. By applying both quantitative and qualitative research methods, the article argues for a mixed-method approach that allows for a more holistic analysis of digital discourse data. It is especially interested in the formal characteristics of Icelandic digital writing and tries to explore what linguistic resources users draw upon and how different communicative functions and contextual factors influence the users’ digital practices. Icelandic forms an interesting test case for the study of digital practices as Facebook constitutes an important communication space for Icelanders. However, the digital practices that can be observed on this social network site are characterised by informality and linguistic forms that may contrast with language regard and language ideology in Iceland.