bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis
Authors: Chen Jianxiong , Fu Youqing , Sun Yan , Zhou Xinlong , Wang Qingming , Li Cong , Yuan Haiming 
Published: July 2023

AbstractBackgroundBiallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid–base homeostasis, and sensorineural deafness. Currently, nine individuals with HKTD have been reported, and seven pathogenic variants in KCNJ16 have been revealed.MethodsA 5‐year‐6‐month‐old Chinese female patient displayed hypokalemic metabolic acidosis, salt wasting, renin‐angiotensin‐aldosterone system (RAAS) activation, arrhythmia, myocardial damage, cardiogenic shock and secondary diffuse brain oedema. Trio‐based whole‐exome sequencing (WES) was applied to detect the genetic cause.ResultsNovel compound heterozygous variants, c.190A>C (p.Thr64Pro) and c.628C>G (p.His210Asp), in KCNJ16 were detected in the patient, and these variants were inherited from the patient's mother and father, respectively. Then, we systematically reviewed the available clinical manifestations of individuals with HKTD. We found that HKTD patients are at risk of cardiogenic shock and secondary diffuse brain oedema, which urges clinicians to make early diagnoses with prompt treatments.ConclusionThese findings expand the variant spectrum of KCNJ16, enrich the clinical characteristics of HKTD, and provide a solid base for the genetic counseling, diagnosis and treatment of this condition.
Near‐total gluteal defect reconstruction with bilateral delayed giant lumbar artery perforator flaps: A case report
Authors: Özkan Burak , Savran Süleyman , Albayati Abbas , Uysal Çağrı A. 
Published: July 2023

AbstractThe reconstruction of the near‐total or total gluteal defects is challenging. Reconstructive options were restricted when the gluteal flaps were sacrificed. The lumbar artery perforator flap (LAPF) has been recently popularized as an alternative option for sacral and gluteal pressure ulcers. Extension of flap size may be needed in extensive defects. We aim to use the delay phenomenon to increase lumbar artery perforator flap territory to reconstruct near total gluteal defect. A 36‐year‐old woman was referred to our clinic with defect sizes of 23 × 23 cm and 25 × 17 cm for the right and left gluteal regions. She had a history of multiple surgeries for her paraplegia‐related sacrogluteal pressure sores. The reconstruction was started on the left side with delaying incisions to the flap borders. Seven days later, the left gluteal defect was reconstructed with 27 × 19 cm LAPF based on a second lumbar artery perforator. At the same session, the delaying incision was performed to the borders of the right LAPF. On day 14, the right gluteal defect was closed with a 25 × 25 cm‐sized right LAPF. No flap loss and early complications were seen. The patient was discharged without complication after 10 days after the last operation. The patient was followed up for 1 year. A right ischial pressure ulcer due to wheelchair use was encountered, which was managed with conservative wound care in the 8th month. Giant‐sized lumbar artery perforator flaps may be obtained by delay phenomenon to reconstruct near‐total or total gluteal pressure sores.
Frequency stabilization of hybrid power system using robust secondary controller
Authors: Farooq Zahid , Rahman Asadur , Lone Shameem Ahmad 
Published: July 2023

AbstractIn regards to present power system setup, this article presents a frequency stabilization of hybrid power system (HPS) assimilated with distributed generation (DG) resources, conventional thermal, geo‐thermal and electric vehicle (EV). The insertion of appropriate system non‐linearities in addition to the intermittency in renewable based generation sources leads to a more practicality into the developed HPS. For such systems, a vigorous control action with swift responding controllable device are an instantaneous requirement. In this view, a cascaded fractional order proportional‐derivative (foPD)‐multi‐stage fractional order proportional integral derivative (MSfoPID) (cascaded foPD‐MSfoPID) as secondary controller is explored for frequency stabilization of HPS. Further, the established power system is provided with erratic load deviations. The influence of EVs on frequency and tie‐line power fluctuations are examined comprehensively. Moreover, the outcome of unified power flow controller (UPFC) device as flexible AC transmission system (FACT) device for system dynamic control are illustrated. Further, sensitivity examination is exhibited to examine the resiliency of proposed cascaded foPD‐MSfoPID controller parameters for deviances in solar irradiance and number of vehicles. Finally, a proposed secondary controller is tested in case studies on standard IEEE‐39 bus system and four‐area hybrid power system.
Can leptonic mixing matrix have a Wolfenstein form?
Authors: Panchal Ankur , Rajasekaran G. , Srivastava Rahul 
Published: July 2023

Abstract
We analyze the possibility of the leptonic mixing matrix having a Wolfenstein form at the Grand Unified Theory scale. The renormalization group evolution of masses and mixing angles from the high scale to electroweak scale, in certain new physics scenarios, can significantly alter the form of the leptonic mixing matrix. In the past it was shown that such significant enhancement implies that the leptonic mixing matrix at high scale can be the same or similar in structure to the quark one. We thoroughly analyze this hypothesis in the light of the latest neutrino oscillation data as well as other constraints such as those coming from neutrinoless double beta decay. We show that such an ansatz, at least within the context of minimal supersymmetric models, is no longer compatible with the latest experimental data.
Critical velocities of a two-layer composite tube incorporating the effects of transverse shear, rotary inertia and material anisotropy
Authors: Gao X.-L. 
Published: July 2023

AbstractCritical velocities of a two-layer composite tube subjected to a uniform internal pressure moving at a constant velocity are analytically derived by using a first-order shear deformation shell theory incorporating the transverse shear, rotary inertia and material anisotropy. The composite tube consists of two perfectly bonded axisymmetric circular cylindrical layers of dissimilar materials, which can be orthotropic, transversely isotropic, cubic or isotropic. Closed-form expressions for four critical velocities are first derived for the general case by including the effects of transverse shear, rotary inertia, material orthotropy and radial stress. The formulas for composite tubes without the transverse shear, rotary inertia or radial stress effect and with simpler anisotropy are then obtained as special cases. In addition, it is shown that the model for a single-layer, homogeneous tube is included in the current model as a special case. To illustrate the newly derived closed-form formulas, a composite tube with an isotropic inner layer and an orthotropic outer layer is analyzed as an example. The numerical values of the lowest critical velocity of the two-layer composite tube predicted by the new formulas compare well with existing data.
Global regularity and asymptotic stabilization for the incompressible Navier–Stokes-Cahn–Hilliard model with unmatched densities
Authors: Abels Helmut , Garcke Harald , Giorgini Andrea 
Published: July 2023

AbstractWe study an initial-boundary value problem for the incompressible Navier–Stokes–Cahn–Hilliard system with non-constant density proposed by Abels, Garcke and Grün in 2012. This model arises in the diffuse interface theory for binary mixtures of viscous incompressible fluids. This system is a generalization of the well-known model H in the case of fluids with unmatched densities. In three dimensions, we prove that any global weak solution (for which uniqueness is not known) exhibits a propagation of regularity in time and stabilizes towards an equilibrium state as $$t \rightarrow \infty $$

t
→
∞

. More precisely, the concentration function $$\phi $$
ϕ
is a strong solution of the Cahn–Hilliard equation for (arbitrary) positive times, whereas the velocity field $${\varvec{{u}}}$$

u

becomes a strong solution of the momentum equation for large times. Our analysis hinges upon the following key points: a novel global regularity result (with explicit bounds) for the Cahn–Hilliard equation with divergence-free velocity belonging only to $$L^2(0,\infty ; {\textbf{H}}^1_{0,\sigma }(\Omega ))$$

L
2

(
0
,
∞
;

H

0
,
σ

1

(
Ω
)

)

, the energy dissipation of the system, the separation property for large times, a weak-strong uniqueness type result, and the Lojasiewicz–Simon inequality. Additionally, in two dimensions, we show the existence and uniqueness of global strong solutions for the full system. Finally, we discuss the existence of global weak solutions for the case of the double obstacle potential.
Radiofrequency ablation for autonomously functioning nodules as treatment for hyperthyroidism: subgroup analysis of toxic adenoma and multinodular goitre and predictors for treatment success
Authors: van der Meeren M. M. D. , Joosten F. B. M. , Roerink S. H. P. P. , Deden L. N. , Oyen W. J. G. 
Published: July 2023

Abstract
Purpose
Treatment of hyperthyroidism caused by autonomously functioning thyroid nodules (AFTN) with 131I often leads to undesirable hypothyroidism. Radiofrequency ablation (RFA) has emerged as a promising alternative. This retrospective analysis aimed to examine the efficacy of, and postprocedural hypothyroidism after, RFA for AFTN.

Methods
Patients with hyperthyroidism caused by AFTN and treated with RFA were included if follow-up of at least 1 year was available. Cure was defined as thyroid medication–free biochemical euthyroidism. To predict cure, patient and treatment factors were analysed. A distinction was made between solitary toxic adenoma (STA) and toxic multinodular goitre (TMG).

Results
Forty-eight patients (36 STA, 12 TMG) were included. One year post-RFA cure rate was 72% in STA versus 25% in TMG (p = 0.004). One patient developed hypothyroidism. In 11 patients that remained hyperthyroid, a second RFA was successful in 83% of STA and 40% of TMG patients. At last available follow-up, this amounted to a total cure rate of 81% in STA and 33% in TMG (p = 0.002). In STA, cured patients had a higher baseline TSH and a lower FT3 than non-cured patients (p = 0.026 and 0.031). Cure was observed in 91% of patients when > 2.1 kJ/mL was delivered during RFA, compared to 44% when less energy was administered.

Conclusion
The efficacy of RFA was nearly 3 times higher in STA patients compared to TMG. Severity of hyperthyroidism and kJ/mL delivered during RFA predicts cure. Direct comparison to the current standard of care is needed to implement RFA in treatment of hyperthyroidism caused by AFTN.
Obese adolescents have higher risk for severe lower extremity fractures after falling
Authors: Gonzalez Nicolas , Nahmias Jeffry , Schubl Sebastian , Swentek Lourdes , Smith Brian R. , Nguyen Ninh T. , Grigorian Areg 
Published: July 2023

Abstract
Introduction
Reports vary on the impact of obesity on the incidence of lower extremity fractures after a fall. We hypothesized that obese adolescents (OA) presenting after a fall have a higher risk of any and severe lower extremity fractures compared to non-OAs.

Methods
A national database was queried for adolescents (12–17 years old) after a fall. Primary outcome included lower extremity fracture. Adolescents with a body mass index (BMI) ≥ 30 (OA) were compared to adolescents with a BMI < 30 (non-OA).

Results
From 20,264 falls, 2523 (12.5%) included OAs. Compared to non-OAs, the rate of any lower extremity fracture was higher for OAs (51.5% vs. 30.7%, p < 0.001). This remained true for lower extremity fractures at all locations (all p < 0.05). After adjusting for sex and age, associated risk for any lower extremity fracture (OR 2.41, CI 2.22–2.63, p < 0.001) and severe lower extremity fracture (OR 1.31, CI 1.15–1.49, p < 0.001) was higher for OAs. This remained true in subset analyses of ground level falls (GLF) and falls from height (FFH) (all p < 0.05).

Conclusions
Obesity significantly impacts adolescents’ risk of all types of lower extremity fractures after FFH or GLF. Hence, providers should have heightened awareness for possible lower extremity fractures in OAs.

Level of evidence
IV.
The role of family history of preterm delivery in the individual risk of spontaneous preterm delivery: a case–control study
Authors: Huri Mor , Strambi Noemi , Finazzi Marta , Manciucca Giulia , Catalano Giovanna , Seravalli Viola , Di Tommaso Mariarosaria 
Published: July 2023

Abstract
Purpose
To investigate the role of family history of preterm delivery (PTD) in the individual risk of spontaneous preterm delivery.

Methods
A retrospective case–control study was conducted on 354 patients who delivered between 2018 and 2020. 177 women who delivered preterm were matched with 177 controls who had full-term delivery. A questionnaire was administered to investigate the family history of PTD of both the patient and her partner. Cases and controls were matched for the anamnestic risk factors for PTD.

Results
Seventeen of 173 women (9.8%) in the PTD group reported being born preterm, compared to five of 169 women (2.9%) in the control group (p = 0.01), with an odds ratio (OR) of 3.57 (95% confidence interval, CI 1.29–9.92). Women who delivered preterm also reported more frequently having a sibling who was born preterm (12.4% vs. 4.2%, p = 0.01), with an OR of 3.18 (95% CI 1.31–7.7). No association was found between the partner’s family history of premature delivery and the patient’s risk of preterm delivery in the present pregnancy.

Conclusions
Pregnant patients who were born prematurely or who have siblings born preterm have an increased risk of preterm delivery in their own pregnancies. Assessment of female personal and family history of PTD should be used to identify women at risk of having a PTD in the present pregnancy.
Three-year survival and distribution of lymph node metastases in gastric cancer following neoadjuvant chemotherapy: results from a European randomized clinical trial
Authors: van der Wielen Nicole , Daams Freek , Rosati Riccardo , Parise Paolo , Weitz Jürgen , Reissfelder Christoph , del Val Ismael Diez , Loureiro Carlos , Parada-González Purificación , Pintos-Martínez Elena , Vallejo Francisco Mateo , Achirica Carlos Medina , Sánchez-Pernaute Andrés , Campos Adriana Ruano , Bonavina Luigi , Asti Emanuele L. G. , Poza Alfredo Alonso , Gilsanz Carlos , Nilsson Magnus , Lindblad Mats , Gisbertz Suzanne S. , van Berge Henegouwen Mark I. , Romario Uberto Fumagalli , De Pascale Stefano , Akhtar Khurshid , Cuesta Miguel A. , van der Peet Donald L. , Straatman Jennifer 
Published: July 2023

Abstract
Background
Adequate lymphadenectomy is an important step in gastrectomy for cancer, with a modified D2 lymphadenectomy being recommended for advanced gastric cancers. When assessing a novel technique for the treatment of gastric cancer, lymphadenectomy should be non-inferior. The aim of this study was to assess completeness of lymphadenectomy and distribution patterns between open total gastrectomy (OTG) and minimally invasive total gastrectomy (MITG) in the era of peri-operative chemotherapy.

Methods
This is a retrospective analysis of the STOMACH trial, a randomized clinical trial in thirteen hospitals in Europe. Patients were randomized between OTG and MITG for advanced gastric cancer after neoadjuvant chemotherapy. Three-year survival, number of resected lymph nodes, completeness of lymphadenectomy, and distribution patterns were examined.

Results
A total of 96 patients were included in this trial and randomized between OTG (49 patients) and MITG (47 patients). No difference in 3-year survival was observed, this was 57.1% in OTG group versus 46.8% in MITG group (P = 0.186). The mean number of examined lymph nodes per patient was 44.3 ± 16.7 in the OTG group and 40.7 ± 16.3 in the MITG group (P = 0.209). D2 lymphadenectomy of 71.4% in the OTG group and 74.5% in the MITG group was performed according to the surgeons; according to the pathologist compliance to D2 lymphadenectomy was 30% in the OTG group and 36% in the MITG group. Tier 2 lymph node metastases (stations 7–12) were observed in 19.6% in the OTG group versus 43.5% in the MITG group (P = 0.024).

Conclusion
No difference in 3-year survival was observed between open and minimally invasive gastrectomy. No differences were observed for lymph node yield and type of lymphadenectomy. Adherence to D2 lymphadenectomy reported by the pathologist was markedly low.
Atlasblockade und Lig.-alare-Läsion – unterschätzt oder übertrieben?
Authors: Wölfle-Roos J. 
Published: July 2023

Zusammenfassung
Hintergrund
Störungen der Kopfgelenke – allen voran die Läsion der Ligg. alaria sowie die Blockierung des Atlas – werden insbesondere in der Laienpresse mit zahlreichen Symptomen assoziiert. Dementsprechend häufig werden Ärzte mit Patienten konfrontiert, die darin eine monokausale Ursache komplexer Beschwerden sehen und auf eine schnelle Lösung hoffen.

Fragestellung
Diese Übersicht stellt die aktuell verfügbare evidenzbasierte Literatur zu Atlasblockade und Lig.-alare-Läsion dar, um ihre Bedeutung differenziert einschätzen zu können.

Material und Methoden
Zusammenfassung und kritische Bewertung einer umfangreichen Literaturrecherche zu Diagnostik, Symptomatik und Therapie der Atlasblockade und Lig.-alare-Läsion.

Ergebnisse
Die Studienlage zeigt, dass Lig.-alare-Läsionen nur durch extreme Hochrasanztraumata entstehen und im MRT nur mit mäßiger Reliabilität nachgewiesen werden können. Da zudem in mehreren Studien kein Zusammenhang zwischen Symptomen und Auffälligkeiten im MRT gezeigt werden konnte, ist eine operative Stabilisierung der Kopfgelenke nicht indiziert. Die Vielzahl der Symptome bei Atlasblockade kann durch Konvergenz der Afferenzen C1–C3 auf verschiedene Hirnnervenkerne in neuroanatomischen Untersuchungen erklärt werden, der Zusammenhang ist jedoch bisher nicht bewiesen. Erste Studien zeigen eine hochsignifikante Besserung von zervikalen Schmerzen und Bewegungsumfang durch manualtherapeutische Lösung der Blockierung auch 6 Monate nach Behandlung.

Schlussfolgerung
Die Bedeutung der Lig.-alare-Läsion wurde in der Vergangenheit häufig überschätzt, diesbezüglich sollte dem Patienten ein differenziertes, multifaktorielles Krankheitsbild vermittelt werden. Die Atlasblockade ist in erster Linie als mögliche Ursache von Schmerzen und Bewegungseinschränkungen der Halswirbelsäule zu sehen, in diesem Kontext ist manuelle Therapie eine wirksame Option.
Paediatric spine injuries in the thoracic and lumbar spine—results of the German multicentre CHILDSPINE study
Authors: Herren Christian , Jarvers Jan-Sven , Jung Matthias K. , Blume Christian , Meinig Holger , Ruf Michael , Weiß Thomas , Rüther Hauke , Welk Thomas , Badke Andreas , Gonschorek Oliver , Heyde Christoph E. , Kandziora Frank , Knop Christian , Kobbe Philipp , Scholz Matti , Siekmann Holger , Spiegl Ulrich , Strohm Peter , Strüwind Christoph , Matschke Stefan , Disch Alexander C. , Kreinest Michael ,   Pediatric Spinal Trauma Working Group, Spine Section of the German Society for Orthopaedics, Trauma (DGOU)
Published: July 2023

Abstract
Background
Paediatric thoracolumbar spine injuries are rare, and meaningful epidemiological data are lacking.

Objectives
The aim of this study was to provide epidemiological data for paediatric patients with thoracolumbar spinal trauma in Germany with a view to enhancing future decision-making in relation to the diagnostics and treatment of these patients.

Materials and Methods
A retrospective multicentre study includes patients up to 16 years of age who were suffering from thoracolumbar spine injuries who had been treated in six German spine centres between 01/2010 and 12/2016. The clinical database was analysed for patient-specific data, trauma mechanisms, level of injury, and any accompanying injuries. Diagnostic imaging and subsequent treatment were investigated. Patients were divided into three age groups for further evaluation: age group I (0–6 years), age group II (7–9 years) and age group III (10–16 years).

Results
A total of 153 children with 345 thoracolumbar spine injuries met the inclusion criteria. The mean age at the time of hospitalization due to the injury was 12.9 (± 3.1) years. Boys were likelier to be affected (1:1.3). In all age groups, falls and traffic accidents were the most common causes of thoracolumbar spine injuries. A total of 95 patients (62.1%) were treated conservatively, while 58 (37.9%) of the children underwent surgical treatment. Minimally invasive procedures were the most chosen procedures. Older children and adolescents were likelier to suffer from higher-grade injuries according to the AOSpine classification. The thoracolumbar junction (T11 to L2) was the most affected level along the thoracolumbar spine (n = 90). Neurological deficits were rarely seen in all age groups. Besides extremity injuries (n = 52, 30.2%), head injuries represented the most common accompanying injuries (n = 53, 30.8%). Regarding spinal injuries, most of the patients showed no evidence of complications during their hospital stay (96.7%).

Conclusions
The thoracolumbar junction was more frequently affected in older children and adolescents. The majority of thoracolumbar spinal column injuries were treated conservatively. Nevertheless, 37.9% of hospitalized children had to be treated surgically, and there was an acceptable complication rate for the surgeries that were performed.
The economics of art history
Authors: Etro Federico G. , Galenson David W. 
Published: July 2023

AbstractThe study of art history has been traditionally focused on the description of artistic innovations, the role of the artists and the meaning of the artworks. It has often neglected the broader reasons why certain innovations took place in certain places, in specific times and in particular ways. We believe that the impact of institutional and economic factors has been critical in shaping the evolution of art history, and quantitative methods can be useful to improve our understanding of the history of figurative arts and the relationship between market structure and creativity.
Mild pyrolysis of cotton coated with graphene-like materials as a method to produce superhydrophobic and highly absorptive oil sorbents
Authors: Łukawski Damian , Widelicka Małgorzata , Martin Anna , Lisiecki Filip , Dudkowiak Alina 
Published: July 2023

AbstractIn recent years, hydrophobized cellulose-based materials have been proposed as oil spill sorbents. We investigate the possibility of using cheap, industrialgrade, graphene-like materials (GM), such as graphite flakes (GrF), exfoliated graphene nanoplatelets (xGNP) and microwave-plasma turbostratic graphene nanoplatelets (mGNP) as hydrophobic agents for naturally hydrophilic cotton. From among investigated GM, mGNP showed the highest ability to form superhydrophobic coating due to small flake size and small amount of impurities. Furthermore, we showed that mild pyrolysis not only makes cotton more hydrophobic, but also increases its sorption capacity towards organic solvents and oils. Pyrolyzed and coated with mGNP and xGNP cotton showed exceptional superhydrophobic properties and water contact angle equal 148° and 142°, respectively, besides the sorption capacity towards motor oil of 46 g/g and 51 g/g, respectively. What is more important, the price of graphene oxide used in previous research is still very high (approx. 100 $/g), while the price of xGNP and mGNP is 0.45 $/g, 7.3 $/g, respectively. This difference may be crucial for the implementation of graphene-based sorbents in the remediation of massive oil spill remediation.