bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis on key parameters in subretinal injection facilitating a predictable and automated robot‐assisted treatment in gene therapy
Authors: Huang Ching‐Wen , Yang Hung‐Yu , Chen Ta‐Ching , Chen Cheng‐Wei 
Published: August 2023

AbstractBackgroundSubretinal injection (SRI) has become an important surgical method for treating vitreoretinal diseases. Nevertheless, the optimisation of bleb formation in SRI, for the attainment of desired therapeutic outcomes, still requires further investigation.MethodsThis study analysed the influence of surgical parameters on SRI using a robotic setup. The surgical procedure was automated using visual guidance. A predictive model for bleb formation was established through regression analysis. To validate the model, we compared the clinical data's target area with the simulated SRI's actual area using parameters determined by the predictive model.ResultsThe insertion angle dominated the eccentricity and area of the bleb. The injection speed dominated the axial angle. Automated SRI increased success rate and produced predictable outcomes.ConclusionsWe could provide accurate SRI on phantom models by adjusting surgical parameters based on the patient's clinical information. Automatic robot‐assisted SRI is a promising surgical technique with highly predictable results.
Protective role of resilience on the associations between childhood maltreatment and internalising and externalising problems
Authors: Cao Juan , Xu Xiaodan , Man Xiaochen , Fu Xuewei , Shen Zijiao , Wang Shuo 
Published: August 2023

AbstractDifferent types of childhood maltreatment have negative effects on individual mental and behavioural outcomes. However, most of previous studies investigated their effects separately. Little is known about the effects of co‐occurring maltreatment profiles on adolescents' developmental outcomes and the potential protective factor. The current study sought to identify distinct profiles of childhood maltreatment and examine the effects of profiles of childhood maltreatment on internalising and externalising problems and the protective role of resilience based on two‐wave longitudinal data, which was collected from a sample of 670 Chinese adolescents (Mage = 15.50, SDage = 0.75, 48.4% boys). Four profiles of childhood maltreatment, that is, No maltreatment (67.9%), High neglect (23.0%), High abuse and neglect/Low sexual abuse (5.0%), and Multi‐maltreatment (4.1%), were identified. Adolescents in High neglect, High abuse and neglect/Low sexual abuse, and Multi‐maltreatment profiles were more likely to report internalising and externalising problems. Further, significant moderating effects of resilience only emerged for the association between the High neglect profile and internalising problems, such that high levels of resilience may weaken the association between the High neglect profile and internalising problems. Our findings revealed the importance and utility of identifying maltreatment profiles to tailor treatment based on specific maltreatment experiences. Resilience‐oriented intervention could be considered for Chinese adolescents who have experienced high neglect.
Two faces of vulnerability: Distinguishing susceptibility to harm and system resilience in climate adaptation
Authors: Shockley Kenneth 
Published: August 2023

AbstractIn the climate adaptation literature, we can distinguish two seemingly distinct frameworks for the concept of vulnerability. We might think of vulnerability in terms of susceptibility to harm. Some discussions of vulnerability accordingly focus on the risk posed to well‐being. Alternatively, we might think of vulnerability in terms of a system's responsiveness to adverse conditions, often spelled out in terms of resilience. This article highlights and distinguishes these frameworks through a brief survey of climate adaptation literature. Understanding the relationship between these two frameworks is vital not only for conceptual clarity, but also for developing adaptation strategies that respond to the different sorts of vulnerabilities posed by climate change. Mitigating the vulnerability of an individual at risk of harm might well complicate efforts at mitigating the vulnerabilities of systems in which that individual is embedded. Humans are clearly at risk of harm from a changing climate, and changing climate challenges the resilience of systems on which humans depend. The paper concludes with a brief consideration of the vulnerabilities that arise from the dissociation of people from their environments. Dissociation, whether through the migration of people or through changes to environmental background conditions not only makes clear the dual nature of vulnerabilities, but also serves as a lens through which we might consider the prospects for integrating a more cohesive account of vulnerability into successful climate adaptation strategies.This article is categorized under:
Climate, Nature, and Ethics > Ethics and Climate Change
Vulnerability and Adaptation to Climate Change > Values‐Based Approach to Vulnerability and Adaptation
Resilienz Kritischer Infrastruktur im Krankenhaus
Authors: Hübner Rico U. , Küsel Cornelia , Oestmann Jörg W. 
Published: August 2023

Zusammenfassung
Hintergrund
Die Kritische Infrastruktur in Krankenhäusern (KRITIS) ist durch die Auswirkungen der COVID-19-Pandemie und auch der Ereignisse in der Ukraine in den Fokus der Resilienzforschung gerückt. Die vorliegende Grundlagenuntersuchung analysiert Gesamtzusammenhänge, kategorisiert und quantifiziert diese. Bisherige Forschungen untersuchten Schadenslagen begrenzten Ausmaßes mit geringer KRITIS-Beteiligung: Worst-Case-Studien fehlen.

Fragestellung
Ist es möglich, ein kategorisiertes und gewichtetes Modell zur Selbstbewertung der Resilienz Kritischer Infrastruktur in Krankenhäusern für das exemplarische Szenario eines längeren überregionalen Stromausfalls zu erstellen und zu bewerten?

Material und Methoden
Das Forschungsdesign ist explorativ. Mit Expert*innen aus 8 Kliniken unterschiedlicher Versorgungsstufen wurde in einer qualitativen Systemanalyse das Modell anonym erstellt, gewichtet und getestet. Der Resilienzindex wurde dann mithilfe von adaptierten Interdependenzanalysen berechnet

Ergebnisse
Es wurden 7 Kategorien und 24 Unterkategorien identifiziert. Die Netzersatzanlage (E1) hat die größten Auswirkungen auf alle anderen Bereiche. Das Pflegepersonal (P2) ist für seine Arbeit am stärksten von allen anderen abhängig. Die kritischsten Elemente sind das Lagezentrum/der Führungsstab (Z1) und Technisches Personal (P3), von denen das gesamte System abhängt. Aus den gewichteten Einzelelementen lässt sich eine Gesamtresilienz für ein Krankenhaus berechnen (Resilienzindex).

Diskussion
Die Kategorisierung und Quantifizierung der KRITIS in Krankenhäusern mit dem Ziel der Resilienzmessung und Optimierung ist möglich. Das erarbeitete Modell erlaubt eine schnelle Anpassung an sich wandelnde Ausgangslagen und kurz- sowie mittelfristig realisierbare Resilienzsteigerungen.
Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
Authors: Yang Chaozhe , Harafuji Naoe , Caldovic Ljubica , Yu Weiying , Boddu Ravindra , Bhattacharya Surajit , Barseghyan Hayk , Gordish-Dressman Heather , Foreman Oded , Bebok Zsuzsa , Eicher Eva M. , Guay-Woodford Lisa M. 
Published: August 2023

Abstract
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which encodes the protein fibrocystin/polyductin complex (FPC), cause all typical forms of ARPKD. Several mouse lines carrying diverse, genetically engineered disruptions in the orthologous Pkhd1 gene have been generated, but none expresses the classic ARPKD renal phenotype. In the current study, we characterized a spontaneous mouse Pkhd1 mutation that is transmitted as a recessive trait and causes cysticliver (cyli), similar to the hepato-biliary disease in ARPKD, but which is exacerbated by age, sex, and parity. We mapped the mutation to Chromosome 1 and determined that an insertion/deletion mutation causes a frameshift within Pkhd1 exon 48, which is predicted to result in a premature termination codon (UGA). Pkhd1cyli/cyli (cyli) mice exhibit a severe liver pathology but lack renal disease. Further analysis revealed that several alternatively spliced Pkhd1 mRNA, all containing exon 48, were expressed in cyli kidneys, but in lower abundance than in wild-type kidneys, suggesting that these transcripts escaped from nonsense-mediated decay (NMD). We identified an AAAAAT motif in exon 48 upstream of the cyli mutation which could enable ribosomal frameshifting, thus potentially allowing production of sufficient amounts of FPC for renoprotection. This mechanism, expressed in a species-specific fashion, may help explain the disparities in the renal phenotype observed between Pkhd1 mutant mice and patients with PKHD1-related disease.

Key messages

The Pkhd1cyli/cyli mouse expresses cystic liver disease, but no kidney phenotype.

Pkhd1 mRNA expression is decreased in cyli liver and kidneys compared to wild-type.

Ribosomal frameshifting may be responsible for Pkhd1 mRNA escape from NMD.

Pkhd1 mRNA escape from NMD could contribute to the absent kidney phenotype.
The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications
Authors: Rioux Alexis V. , Bergeron Nicolas AD. , Riopel Julie , Marcoux Nicolas , Thériault Catherine , Gould Peter V. , Garneau Alexandre P. , Isenring Paul 
Published: August 2023

Abstract
RMND1 has been identified as a mitochondriopathy-associated gene less than 12 years ago. The most common phenotype related to this gene is an early onset, severe form of encephalomyopathy that leads to death in a medium time of three years after birth. However, milder and later onset presentations have been reported in some individuals, including two in whom the mitochondriopathy was identified at ~ 40 years of age, and the early onset presentations have been the object of no reports in those who survived beyond age 10. It is thus unclear how lethal RMND1-related conditions really are. We herein describe the oldest case to have been identified hitherto with this condition, i.e., that of a white female who was 61 at the time of diagnosis but was still active in her everyday life. The gene defect identified was nonetheless associated with many manifestations including ovarian insufficiency and sensorineural hearing loss (two features of what is currently designated as Perrault syndrome) as well as chronic renal failure, asymptomatic myopathy, leukopenia, and a few others. In our opinion, this case is of great translational interest for at least three reasons. First, it hints towards the possibility of near-normal life expectancies in some if not many individuals with RMND1 insufficiency. Second, it underlines the wide clinical spectrum associated with this gene. Third, it brings us to question the use of eponyms and syndromic features to identify the true etiology of multisystemic phenotypes.

Key messages

RMND1-related conditions typically manifest at an early age with a progressive and lethal form of encephalomyopathy.

More benign presentations have been described with some being categorized as Perrault syndrome but none have been diagnosed after the age of 45.

The clinical spectrum and presenting age of RMND1-related mitochondriopathies are probably much more varied than implied in the current literature.

The case reported in this manuscript illustrates the limitedness of phenotype-based classifications of genetic disorders to identify the defect at cause.
Ultrahigh-field MRI: where it really makes a difference
Authors: Trattnig Siegfried , Hangel Gilbert , Robinson Simon D. , Juras Vladimir , Szomolanyi Pavol , Dal-Bianco Assunta 
Published: August 2023

Abstract
Background
Currently, two major magnetic resonance (MR) vendors provide commercial 7‑T scanners that are approved by the Food and Drug Administration (FDA) for clinical application. There is growing interest in ultrahigh-field MRI because of the improved clinical results in terms of morphological detail, as well as functional and metabolic imaging capabilities.

Materials and methods
The 7‑T systems benefit from a higher signal-to-noise ratio, which scales supralinearly with field strength, a supralinear increase in the blood oxygenation level dependent (BOLD) contrast for functional MRI and susceptibility weighted imaging (SWI), and the chemical shift increases linearly with field strength with consequently higher spectral resolution.

Results
In multiple sclerosis (MS), 7‑T imaging enables visualization of cortical lesions, the central vein sign, and paramagnetic rim lesions, which may be beneficial for the differential diagnosis between MS and other neuroinflammatory diseases in challenging and inconclusive clinical presentations and are seen as promising biomarkers for prognosis and treatment monitoring. The recent development of high-resolution proton MR spectroscopic imaging in clinically reasonable scan times has provided new insights into tumor metabolism and tumor grading as well as into early metabolic changes that may precede inflammatory processes in MS. This technique also improves the detection of epileptogenic foci in the brain. Multi-nuclear clinical applications, such as sodium imaging, have shown great potential for the evaluation of repair tissue quality after cartilage transplantation and in the monitoring of newly developed cartilage regenerative drugs for osteoarthritis.

Conclusion
For special clinical applications, such as SWI in MS, MR spectroscopic imaging in tumors, MS and epilepsy, and sodium imaging in cartilage repair, 7T may become a new standard.
Exploring implications of Trace (Inversion) formula and Artin algebras in extremal combinatorics
Authors: Pardo Luis M. 
Published: August 2023

AbstractThis note is just a modest contribution to prove several classical results in Combinatorics from notions of Duality in some Artinian K-algebras (mainly through the Trace Formula), where K is a perfect field of characteristics not equal to 2. We prove how several classic combinatorial results are particular instances of a Trace (Inversion) Formula in finite $$\mathbb {Q}$$
Q
-algebras. This is the case with the Exclusion-Inclusion Principle (in its general form, both with direct and reverse order associated to subsets inclusion). This approach also allows us to exhibit a basis of the space of null t-designs, which differs from the one described in Theorem 4 of Deza and Frankl (Combinatorica 2:341–345, 1982). Provoked by the elegant proof (which uses no induction) in Frankl and Pach (Eur J Comb 4:21–23, 1983) of the Sauer–Shelah–Perles Lemma, we produce a new one based only in duality in the $$\mathbb {Q}$$
Q
-algebra $$\mathbb {Q}[V_n]$$

Q
[

V
n

]

of polynomials functions defined on the zero-dimensional algebraic variety of subsets of the set $$[n]:=\{1,2,\ldots , n\}$$

[
n
]
:
=
{
1
,
2
,
…
,
n
}

. All results are equally true if we replace $$\mathbb {Q}[V_n]$$

Q
[

V
n

]

by $$K[V_n]$$

K
[

V
n

]

, where K is any perfect field of characteristics $$\not =2$$

≠
2

. The article connects results from two fields of mathematical knowledge that are not usually connected, at least not in this form. Thus, we decided to write the manuscript in a self-contained survey-like style, although it is not a survey paper at all. Readers familiar with Commutative Algebra probably know most of the proofs of the statements described in section 2. We decided to include these proofs for those potential readers not so familiar with this framework.
A randomized controlled study evaluating the head-lift exercise in head and neck cancer patients with radiation-induced dysphagia: effect on swallowing function and health-related quality of life over 12 months
Authors: Petersson Kerstin , Finizia Caterina , Pauli Nina , Dotevall Hans , Tuomi Lisa 
Published: August 2023

Abstract
Purpose
Dysphagia is common after radiotherapy for head and neck cancer (HNC) and can affect health-related quality of life (HRQL). This randomized controlled trial aimed to evaluate the effect of the head-lift exercise (HLE) over 12 months in HNC patients with radiation-induced dysphagia.

Methods
Sixty-one patients with dysphagia were randomized to intervention group (n = 30) and control group (n = 31) at 6–36 months after completion of radiotherapy for HNC. Dysphagia-specific HRQL was measured with the MD Anderson Dysphagia Inventory (MDADI); general and HNC-specific HRQL was measured with the European Organization for Research and Treatment of Cancer Quality of Life questionnaire Core 30 (EORTC QLQ-C30) and QLQ-H&N35. Measurements were made at baseline, and at 8 weeks and 12 months after start of intervention.

Results
Adherence to the intervention was good throughout the year. When comparing change from baseline reports to each follow-up no statistically significant differences between the groups were found in any of the HRQL instruments. There were some statistically significant changes within groups compared to baseline. The intervention group improved self-rated swallowing function on the MDADI at 8 weeks (emotional domain, p = 0.03; functional domain, p = 0.007; total score, p = 0.01) and the control at twelve months (emotional domain, p = 0.03; functional domain, p = 0.02; physical domain, p = 0.004; total score, p = 0.002).

Conclusion
In this randomized control study, no effect was observed short term or at 12 months on HRQL after use of the HLE as rehabilitation for radiation-induced dysphagia.
Longterm course of neuropsychological symptoms and ME/CFS after SARS-CoV-2-infection: a prospective registry study
Authors: Reuken P. A. , Besteher B. , Finke K. , Fischer A. , Holl A. , Katzer K. , Lehmann-Pohl K. , Lemhöfer C. , Nowka M. , Puta C. , Walter M. , Weißenborn C. , Stallmach A. 
Published: August 2023

AbstractA significant proportion of patients after SARS-CoV-2 infection suffer from long-lasting symptoms. Although many different symptoms are described, the majority of patients complains about neuropsychological symptoms. Additionally, a subgroup of patients fulfills diagnostic criteria for ME/CFS. We analyzed a registry of all patients presenting in the out-patients clinic at a German university center. For patients with more than one visit, changes in reported symptoms from first to second visit were analyzed. A total of 1022 patients were included in the study, 411 of them had more than one visit. 95.5% of the patients reported a polysymptomatic disease. At the first visit 31.3% of the patients fulfilled ME/CFS criteria after a median time of 255 days post infection and and at the second visit after a median of 402 days, 19.4% still suffered from ME/CFS. Self-reported fatigue (83.7–72.7%) and concentration impairment (66.2–57.9%) decreased from first to second visit contrasting non-significant changes in the structured screening. A significant proportion of SARS-CoV-2 survivors presenting with ongoing symptoms present with ME/CFS. Although the proportion of subjective reported symptoms and their severity reduce over time, a significant proportion of patients suffer from long-lasting symptoms necessitating new therapeutic concepts.
Oxide-silicate petrology and geochemistry of subducted hydrous ultramafic rocks beyond antigorite dehydration (Central Alps, Switzerland)
Authors: Vieira Duarte Joana Filipa , Pettke Thomas , Hermann Jörg , Piccoli Francesca 
Published: August 2023

AbstractOxide minerals contained in ultramafic rocks are useful tools to assess the redox conditions of the rock and fluids liberated upon progressive serpentinite dehydration during subduction, as these minerals contain a relevant redox-sensitive element, iron. Previous studies have revealed that magnetite predominates across the antigorite-out reaction. However, the fate of magnetite and other oxides at higher pressure and temperature conditions has remained underexplored. We present a comprehensive petrological and geochemical study of oxide-sulfide-silicate mineral assemblages in metaperidotites beyond antigorite- and chlorite-out reactions (T = 650–850 °C and P = 1–3 GPa). Several ultramafic lenses, covering different bulk rock compositions and extents of oxidation upon oceanic serpentinization, were investigated from the Central Alps, Switzerland. Results point to two endmember scenarios: (i) Most frequently, metaperidotites have olivine with a Mg# of 89–91 (defined as molar Mg/(Mg + Fetot) × 100) and contain low oxide modes (0.06–1.41 vol.%), hematite is absent, and redox conditions are weakly oxidized and buffered by orthopyroxene-olivine-magnetite. (ii) Rare occurrence, high olivine Mg# > 94.5 metaperidotites display coexisting hematite and magnetite, high oxide modes (up to 4 vol.%), and redox conditions are hematite-magnetite (HM) buffered (Δlog10fO2,QFM of + 3 to + 4). Spinel displays evolving compositions from magnetite over chromite to Al-Cr-spinel, roughly correlating with increasing temperature. Most of the samples buffered by the olivine-orthopyroxene-magnetite assemblage contain coexisting pentlandite ± pyrrhotite, thus identifying stable sulfides beyond antigorite dehydration for these weakly oxidized samples (Δlog10fO2,QFM < 2.5). No sulfides were recognized in the highly oxidized sample. The transition of magnetite to chromite at around 700 °C goes along with a shift in fO2 to lower values. At the prevailing oxygen fugacity in the weakly oxidized metaperidotites sulfur in a coexisting fluid is always present in its reduced form. However, oxidized sulfur can be stable in the dehydration fluids released from highly oxidized serpentinites.
The use of brain tissue mechanics for time since death estimations
Authors: Zwirner Johann , Devananthan Pavithran , Docherty Paul , Ondruschka Benjamin , Kabaliuk Natalia 
Published: August 2023

AbstractTime since death estimation is a vital part of forensic pathology. Despite the known tissue degradation after death, the efficacy of using biomechanical tissue properties to estimate time since death remains unexplored. Here, eight brain tissue localizations were sampled from the frontal lobe, parietal lobe, anterior and posterior deep brain, superior colliculi, pons, medulla, and cerebellum of 30 sheep; were then stored at 20 °C; and subsequently subjected to rheometry tests on days zero to four after death. Overall, the measured tissue storage modulus, loss modulus, and complex shear modulus decreased after death for all of the tested regions in a site-specific manner. Day zero to day one changes were the only 24-h interval, for which statistically significant differences in tissue mechanical moduli were observed for some of the tested brain regions. Based on receiver operator characteristic analyses between day zero and the pooled data of days one to four, a post mortem interval of at least 1 day can be determined with a sensitivity of 90%, a specificity of 92%, and a positive likelihood ratio of 10.8 using a complex shear modulus cut-off value of 1461 Pa for cerebellar samples. In summary, biomechanical properties of brain tissue can discriminate between fresh and at least 1-day-old samples stored at 20 °C with high diagnostic accuracy. This supports the possible value of biomechanical analyses for forensic time since death estimations. A striking advantage over established methods to estimate the time since death is its usability in cases of disintegrated bodies, e.g. when just the head is found.