bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patient-Oriented Multifamily Group-Based Care for Somatization: Narratives From Treated Adolescents and Parents
Authors: Dhariwal Amrit Kaur , Lui Allison , Gordon Shanlea L. , Kristen Anna , Boerner Katelynn E. , Opie Jessica , Mohun Hannah , Green Katherine E. , Chapman Andrea J. M. , Stanford Elizabeth A. , Vidler Marianne M. , Oberlander Tim F. 
Published: October 2023

Objective: Treatment mechanisms to alleviate adolescent somatization are unknown. While processes underlying potential efficacy have not been investigated, mental health destigmatization is likely key. Here, qualitative methods were used so adolescent patients and their parents could express their perceptions about processes important in improvement from conditions affected by somatization. Method: A total of 21 posttreatment interviews (10 adolescents aged 12–17; 11 parents) were completed following participation in the manualized mind–body together (MBT) multifamily group in a pediatric tertiary care setting. Demystifying the nature of the body’s physical response to stress and broaching emotional coregulation between adolescents and parents were core group topics. Semistructured interviews were used to explore participants’ experiences of treatment and improvement. Interviews were video/audio recorded, transcribed verbatim, and coded using reflexive thematic analysis. Results: Four global processes essential to improvement were generated: (a) group belonging and normalization, (b) accepting the joint nature of physical and mental states, (c) emotional coregulation between parents and children, and (d) knowledge translation to school contexts. Responses suggested the first three themes built upon one another in succeeding order, but the final theme was missing from treatment. Conclusion: The multifamily MBT group for somatization may be a promising initial step for treatment. Its core processes may be operationalized and further improved. While quantitative evaluations of treatment mechanism are now warranted, providers may consider optimizing their services for adolescent somatization by integrating the four components expressed by families with lived experience. Implications for Impact Statement A somatization group treatment for teens and parents may help them engage in mental healthcare. According to teens and parents, group belonging sets the stage for treatment, allowing them to accept emotions and physical symptoms are connected, change the way they communicate emotionally, and identify the need to extend this knowledge to schools. Findings may guide clinicians through the steps patients require for wellness.
Evolution of a plant growth-regulatory protein interaction specificity
Authors: Ji Zhe , Belfield Eric J. , Zhang Siyu , Bouvier Jacques , Li Shan , Schnell Jason , Fu Xiangdong , Harberd Nicholas P. 
Published: October 2023

AbstractSpecific protein–protein interactions (PPIs) enable biological regulation. However, the evolution of PPI specificity is little understood. Here we trace the evolution of the land-plant growth-regulatory DELLA–SLY1/GID2 PPI, revealing progressive increase in specificity of affinity of SLY1/GID2 for a particular DELLA form. While early-diverging SLY1s display relatively broad-range DELLA affinity, later-diverging SLY1s tend towards increasingly stringent affinity for a specific DELLA A’ form generated by the growth-promoting phytohormone gibberellin (GA). Our novel mutational strategy reveals amino acid substitutions contributing to the evolution of Arabidopsis thaliana SLY1 A’ specificity, also showing that routes permitting reversion to broader affinity became increasingly constrained over evolutionary time. We suggest that progressive affinity narrowing may be an important evolutionary driver of PPI specificity and that increase in SLY1/GID2-DELLA specificity enabled the enhanced flexibility of plant physiological environmental adaptation conferred by the GA-DELLA growth-regulatory mechanism.
How does apathy impact exploration-exploitation decision-making in older patients with neurocognitive disorders?
Authors: Daumas Lyne , Zory Raphaël , Junquera-Badilla Isabel , Ferrandez Marion , Ettore Eric , Robert Philippe , Sacco Guillaume , Manera Valeria , Ramanoël Stephen 
Published: October 2023

AbstractApathy is a pervasive clinical syndrome in neurocognitive disorders, characterized by a quantitative reduction in goal-directed behaviors. The brain structures involved in the physiopathology of apathy have also been connected to the brain structures involved in probabilistic reward learning in the exploration-exploitation dilemma. This dilemma in question involves the challenge of selecting between a familiar option with a more predictable outcome, and another option whose outcome is uncertain and may yield potentially greater rewards compared to the known option. The aim of this study was to combine experimental procedures and computational modeling to examine whether, in older adults with mild neurocognitive disorders, apathy affects performance in the exploration-exploitation dilemma. Through using a four-armed bandit reinforcement-learning task, we showed that apathetic older adults explored more and performed worse than non-apathetic subjects. Moreover, the mental flexibility assessed by the Trail-making test-B was negatively associated with the percentage of exploration. These results suggest that apathy is characterized by an increased explorative behavior and inefficient decision-making, possibly due to weak mental flexibility to switch toward the exploitation of the more rewarding options. Apathetic participants also took longer to make a choice and failed more often to respond in the allotted time, which could reflect the difficulties in action initiation and selection. In conclusion, the present results suggest that apathy in participants with neurocognitive disorders is associated with specific disturbances in the exploration-exploitation trade-off and sheds light on the disturbances in reward processing in patients with apathy.
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease
Authors: Diaw Sokhna Haissatou , Borsche Max , Streubel-Gallasch Linn , Dulovic-Mahlow Marija , Hermes Julia , Lenz Insa , Seibler Philip , Klein Christine , Brüggemann Norbert , Vos Melissa , Lohmann Katja 
Published: October 2023

AbstractDespite being a major component of Lewy bodies and Lewy neurites, pathogenic variants in the gene encoding alpha-Synuclein (α-Syn) are rare. To date, only four missense variants in the SNCA gene, encoding α-Syn have unequivocally been shown to be disease-causing. We here describe a Parkinson´s disease patient with early cognitive decline carrying an as yet not fully characterized variant in SNCA (NM_001146055: c.44T > C, p.V15A). We used different cellular models, including stably transfected neuroblastoma (SH-SY5Y) cell cultures, induced pluripotent stem cell (iPSC)-derived neuronal cultures, and generated a Drosophila model to elucidate the impact of the p.V15A variant on α-Syn function and aggregation properties compared to other known pathogenic variants. We demonstrate that p.V15A increased the aggregation potential of α-Syn and the levels of apoptotic markers, and impaired the mitochondrial network. Moreover, p.V15A affects the flying ability and survival of mutant flies. Thus, we provide supporting evidence for the pathogenicity of the p.V15A variant, suggesting its inclusion in genetic testing approaches.
fMRI fluctuations within the language network are correlated with severity of hallucinatory symptoms in schizophrenia
Authors: Spironelli Chiara , Marino Marco , Mantini Dante , Montalti Riccardo , Craven Alexander R. , Ersland Lars , Angrilli Alessandro , Hugdahl Kenneth 
Published: October 2023

AbstractAlthough schizophrenia (SZ) represents a complex multiform psychiatric disorder, one of its most striking symptoms are auditory verbal hallucinations (AVH). While the neurophysiological origin of this pervasive symptom has been extensively studied, there is so far no consensus conclusion on the neural correlates of the vulnerability to hallucinate. With a network-based fMRI approach, following the hypothesis of altered hemispheric dominance (Crow, 1997), we expected that LN alterations might result in self-other distinction impairments in SZ patients, and lead to the distressing subjective experiences of hearing voices. We used the independent component analysis of resting-state fMRI data, to first analyze LN connectivity in three groups of participants: SZ patients with and without hallucinations (AVH/D+ and AVH/D–, respectively), and a matched healthy control (HC) group. Then, we assessed the fMRI fluctuations using additional analyses based on fractional Amplitude of Low Frequency-Fluctuations (fALFF), both at the network- and region of interest (ROI)-level. Specific LN nodes were recruited in the right hemisphere (insula and Broca homologous area) for AVH/D+ , but not for HC and AVH/D–, consistent with a left hemisphere deficit in AVH patients. The fALFF analysis at the ROI level showed a negative correlation between fALFF Slow-4 and P1 Delusions PANSS subscale and a positive correlation between the fALFF Slow-5 and P3 Hallucination PANSS subscale for AVH/D+ only. These effects were not a consequence of structural differences between groups, as morphometric analysis did not evidence any group differences. Given the role of language as an emerging property resulting from the integration of many high-level cognitive processes and the underlying cortical areas, our results suggest that LN features from fMRI connectivity and fluctuations can be a marker of neurophysiological features characterizing SZ patients depending on their vulnerability to hallucinate.
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
Authors: Jakubek Yasminka A. , Zhou Ying , Stilp Adrienne , Bacon Jason , Wong Justin W. , Ozcan Zuhal , Arnett Donna , Barnes Kathleen , Bis Joshua C. , Boerwinkle Eric , Brody Jennifer A. , Carson April P. , Chasman Daniel I. , Chen Jiawen , Cho Michael , Conomos Matthew P. , Cox Nancy , Doyle Margaret F. , Fornage Myriam , Guo Xiuqing , Kardia Sharon L. R. , Lewis Joshua P. , Loos Ruth J. F. , Ma Xiaolong , Machiela Mitchell J. , Mack Taralynn M. , Mathias Rasika A. , Mitchell Braxton D. , Mychaleckyj Josyf C. , North Kari , Pankratz Nathan , Peyser Patricia A. , Preuss Michael H. , Psaty Bruce , Raffield Laura M. , Vasan Ramachandran S. , Redline Susan , Rich Stephen S. , Rotter Jerome I. , Silverman Edwin K. , Smith Jennifer A. , Smith Aaron P. , Taub Margaret , Taylor Kent D. , Yun Jeong , Li Yun , Desai Pinkal , Bick Alexander G. , Reiner Alexander P. , Scheet Paul , Auer Paul L. 
Published: October 2023

AbstractMegabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome sequencing data, compared with array-based data, in uncovering mCAs at low mutant cell fractions and found that individuals of European ancestry have the highest rates of autosomal mCAs and the lowest rates of chromosome X mCAs, compared with individuals of African or Hispanic ancestry. Although further studies in diverse populations will be needed to replicate our findings, we report three loci associated with loss of chromosome X, associations between autosomal mCAs and rare variants in DCPS, ADM17, PPP1R16B and TET2 and ancestry-specific variants in ATM and MPL with mCAs in cis.
An integrated gene-to-outcome multimodal database for metabolic dysfunction-associated steatotic liver disease
Authors: Kendall Timothy J. , Jimenez-Ramos Maria , Turner Frances , Ramachandran Prakash , Minnier Jessica , McColgan Michael D. , Alam Masood , Ellis Harriet , Dunbar Donald R. , Kohnen Gabriele , Konanahalli Prakash , Oien Karin A. , Bandiera Lucia , Menolascina Filippo , Juncker-Jensen Anna , Alexander Douglas , Mayor Charlie , Guha Indra Neil , Fallowfield Jonathan A. 
Published: October 2023

AbstractMetabolic dysfunction-associated steatotic liver disease (MASLD) is the commonest cause of chronic liver disease worldwide and represents an unmet precision medicine challenge. We established a retrospective national cohort of 940 histologically defined patients (55.4% men, 44.6% women; median body mass index 31.3; 32% with type 2 diabetes) covering the complete MASLD severity spectrum, and created a secure, searchable, open resource (SteatoSITE). In 668 cases and 39 controls, we generated hepatic bulk RNA sequencing data and performed differential gene expression and pathway analysis, including exploration of gender-specific differences. A web-based gene browser was also developed. We integrated histopathological assessments, transcriptomic data and 5.67 million days of time-stamped longitudinal electronic health record data to define disease-stage-specific gene expression signatures, pathogenic hepatic cell subpopulations and master regulator networks associated with adverse outcomes in MASLD. We constructed a 15-gene transcriptional risk score to predict future hepatic decompensation events (area under the receiver operating characteristic curve 0.86, 0.81 and 0.83 for 1-, 3- and 5-year risk, respectively). Additionally, thyroid hormone receptor beta regulon activity was identified as a critical suppressor of disease progression. SteatoSITE supports rational biomarker and drug development and facilitates precision medicine approaches for patients with MASLD.
Worse cardiovascular and renal outcome in male SLE patients
Authors: Mihailovic Jelena , Ribi Camillo , Chizzolini Carlo , Trendelenburg Marten , Von Kempis Johannes , Dahdal Suzan , Huynh-Do Uyen ,   The Swiss Systemic Lupus Erythematosus Cohort Study Group (SSCS), Comte Denis , Eisenberger Ute , Hauser Thomas , Roux-Lombard Pascale , Rubbert-Roth Andrea , Steiner Urs 
Published: October 2023

AbstractSystemic lupus erythematosus (SLE) in males is rare and poorly understood. Thus, still little is known about sex differences in SLE. We set out to identify sex differences regarding clinical manifestations as well as renal and cardiovascular outcomes of SLE. We analyzed patient data from the Swiss SLE Cohort Study. Cumulative clinical manifestations according to the updated American College of Rheumatology criteria were recorded at inclusion. Cardiovascular events were recorded within Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SLICC-SDI). Renal failure was defined as eGFR < 15 ml/min/1.73 m2, initiation of renal replacement therapy or doubling of serum creatinine which were all assessed yearly or documented as end stage renal disease in SLICC-SDI. Risk differences were calculated using logistic regression and cox regression models. We analyzed 93 men and 529 women with a median follow up time of 2 years. Males were significantly older at diagnosis (44.4 versus 33.1 years, p < 0.001) and had less often arthritis (57% versus 74%, p = 0.001) and dermatological disorders (61% versus 76%, p < 0.01). In multivariate analysis female sex remained a significantly associated with arthritis and dermatological disorders. In multivariate analysis men had a significantly higher hazard ratio of 2.3 for renal failure (95% confidence interval (95%-CI) 1.1–5.2, p < 0.04). Total SLICC-SDI Score was comparable. Men had significantly more coronary artery disease (CAD) (17% versus 4%, p < 0.001) and myocardial infarction (10% versus 2%, p < 0.01). In multivariate analysis, male sex remained a significant risk factor for CAD (odds ratio (OR) 5.6, 95%-CI 2.3–13.7, p < 0.001) and myocardial infarction (OR 8.3, 95%-CI 2.1–32.6, p = 0.002). This first sex study in a western European population demonstrates significant sex differences in SLE. Male sex is a risk factor for cardiovascular events and renal failure in SLE. Potential etiological pathomechanisms such as hormonal or X-chromosomal factors remain to be further investigated.
Some common deleterious mutations are shared in SARS-CoV-2 genomes from deceased COVID-19 patients across continents
Authors: Islam Md. Aminul , Marzan Abdullah Al , Arman Md. Sakil , Shahi Shatila , Sakif Tahsin Islam , Hossain Maqsud , Islam Tofazzal , Hoque M. Nazmul 
Published: October 2023

AbstractThe identification of deleterious mutations in different variants of SARS-CoV-2 and their roles in the morbidity of COVID-19 patients has yet to be thoroughly investigated. To unravel the spectrum of mutations and their effects within SARS-CoV-2 genomes, we analyzed 5,724 complete genomes from deceased COVID-19 patients sourced from the GISAID database. This analysis was conducted using the Nextstrain platform, applying a generalized time-reversible model for evolutionary phylogeny. These genomes were compared to the reference strain (hCoV-19/Wuhan/WIV04/2019) using MAFFT v7.470. Our findings revealed that SARS-CoV-2 genomes from deceased individuals belonged to 21 Nextstrain clades, with clade 20I (Alpha variant) being the most predominant, followed by clade 20H (Beta variant) and clade 20J (Gamma variant). The majority of SARS-CoV-2 genomes from deceased patients (33.4%) were sequenced in North America, while the lowest percentage (0.98%) came from Africa. The ‘G’ clade was dominant in the SARS-CoV-2 genomes of Asian, African, and North American regions, while the ‘GRY’ clade prevailed in Europe. In our analysis, we identified 35,799 nucleotide (NT) mutations throughout the genome, with the highest frequency (11,402 occurrences) found in the spike protein. Notably, we observed 4150 point-specific amino acid (AA) mutations in SARS-CoV-2 genomes, with D614G (20%) and N501Y (14%) identified as the top two deleterious mutations in the spike protein on a global scale. Furthermore, we detected five common deleterious AA mutations, including G18V, W45S, I33T, P30L, and Q418H, which play a key role in defining each clade of SARS-CoV-2. Our novel findings hold potential value for genomic surveillance, enabling the monitoring of the evolving pattern of SARS-CoV-2 infection, its emerging variants, and their impact on the development of effective vaccination and control strategies.
Safety and feasibility of reduced-port robotic distal gastrectomy for gastric cancer: a phase I/II clinical trial using the da Vinci Single Port(SP) robotic system
Authors: Park Sung Hyun , Kim Youn Nam , Hwang Jawon , Kim Ki-Yoon , Cho Minah , Kim Yoo Min , Hyung Woo Jin , Kim Hyoung-Il 
Published: October 2023

AbstractMinimally invasive surgery reduces surgical trauma and the size and number of incisions. The da Vinci SP robotic surgical system was designed to overcome the technical demands of single-incision laparoscopic surgery. This study aimed to demonstrate the safety and feasibility of single-port (SP) robotic distal gastrectomy (SPRDG) for patients with gastric cancer using the da Vinci SP system (Intuitive Surgical Inc., Sunnyvale, CA, USA). This study was designed as a single-arm prospective phase I/II clinical trial of SPRDG (first posted date: 21/09/2021, NCT05051670; clinicaltrials.gov). SPRDG using the da Vinci SP system was performed on 19 patients with gastric cancer between December 2021 and October 2022. The primary outcome was the safety of SPRDG as measured by major postoperative complications. The secondary outcomes were operation time, bleeding amount, bowel motility recovery, and length of hospital stay. SPRDG was performed in all 19 patients without unexpected events, such as use of additional trocars or conversion to laparoscopic or open surgery. No major complications occurred postoperatively (0/19, 0.0%). The mean operation time was 218 min (range 164–286 min). The mean hospital stay duration was 3.2 days (range 2–4 days). This phase I/II clinical trial, performed by a single expert surgeon, demonstrated the safety and feasibility of SPRDG with the da Vinci SP system in selected patients with gastric cancer. SPRDG could be a reasonable alternative to conventional or reduced-port minimally invasive gastrectomy, as it has cosmetic advantages, early recovery, and safe discharge.
Fiber metal laminates for high strain rate applications with layerwise shock impedance tuning
Authors: Pai Anand , Rodriguez-Millan Marcos , Kini Chandrakant R. , Mallya Ravindra , Bekal Chandrakantha , Yeshwant Nayak Suhas , Shenoy Satish B. 
Published: October 2023

AbstractNovel materials such as fiber-metal laminates (FMLs) have demonstrated significant potential in a variety of applications. They must contend with problems such fatigue, creep, high-speed projectile impact, and deformation at high strain rates while in use. When employed as structural materials in aircraft, especially when exposed to shock wave impact and high velocity impact, fiber-metal laminates’ high strain rate characteristics become crucial. Shock impedance matching is a revolutionary approach used for shock-tuning the separate layers. The novelty of the current work is in developing custom shielding laminates, with in-depth analysis on the response of the shock impedance tuning of individual layers on the laminate behaviour at high strain rates. In the current study, five stackups of FMLs comprising metallic (AA 6061-T6) and fiber-reinforced polymer (FRP) plies, were formulated, incorporating shock impedance matching. The fiber-polymer plies used in the FMLs include ultra-high molecular weight polyethylene (UHMWPE), p-aramid for supplementing the impact resistance. Transmission loss functions (TL) estimated from the impedance tube experiments were used to indicate the shock tuning of the various laminates. The laminates underwent testing using a Split Hopkinson Pressure Bar (SHPB) apparatus to determine their properties at high strain rates ($$350\, \textrm{s}^{-1}$$

350

s

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1

to $$460\, \textrm{s}^{-1}$$

460

s

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1

). The variation in the Shock Energy (SE) absorbed by the laminates at various strain rates was analyzed as a function of the corresponding Transmission Loss employing regression. The dynamic stress-strain curves showed an increase in shock energy absorption at higher strain rates. The sequence SSP-IV and SSP-II showed the highest values of energy absorption as well as Transmission Loss.