bluuebunny/crossref_metadata_2025_split huggingface dataset:
Is LVH a must in an amyloid heart?
Authors: Elganainy Mohammed N , Kazim Hameedullah M , Daood Muhammad S , Abdallah Amr , Elsaban Khaled , Althomali Muteb , Almalki Mazen M , Embaby Ahmed , Elsheikh Haitham , Elheet Ahmed A 
Published: September 2024

Abstract

Background
Transthyretin amyloidosis (ATTR), an infiltrative cardiomyopathy, is characterized by the infiltration of transthyretin-derived amyloid fibrils into the cardiac extracellular space, which causes morphological and functional heart damage. Because of the vast range of symptoms that can accompany ATTR cardiac amyloidosis, the illness remains unknown. However, misdiagnosis or delayed diagnosis due to inconsistencies between clinical findings and the severity of the underlying disease hampers treatment methods.

Aim and objectives
This article investigates the intricate relationship between ATTR amyloidosis pathogenesis and clinical signs to understand better the challenges and advancements in early discovery, treatment, and prognosis of this concealed sickness.

Methods & Results
Between November 2022 and April 2024, we conducted a prospective analysis on a cohort of 71 patients diagnosed with ATTR cardiac amyloidosis utilizing PYP imaging at our institution (Al Hada Armed Force Hospital, Taif, Saudi Arabia). The Medical Ethics Review Committee of the hospital accepted this project (2023-720). During our study, we faced two cases without LVH and both cases have grade II-III cardiac uptake.

1st case
A 66-year-old male patient who is a known case of ischemic cardiomyopathy with EF 35% since 2018, he underwent PCI in 2018. The patient is following the cardio clinic since 2018 and on every visit he was asymptomatic, The Patient in 2021 experienced new shortness of breath within six minutes’ walk distance less than 400 meters. The patient experienced erectile dysfunction and underwent intervention for his carpal tunnel syndrome. ECG showed old Q in anterior leads. Echo showed the same EF 35% and old wall motion abnormalities. Diagnostic coronary angiography showed patent stents and no residual ischemia. When we revised his old echo study that was done in 2017, we found EF 55%, concentric LVH. PYP bone scintigraphy was decided and showed grade II-III cardiac uptake.

2nd case
A 53-year-old hypothyroid female patient and she has metastatic left breast cancer. During her workup bone scan, grade III cardiac uptake was accidentally discovered using an HMDP isotope. The patient was referred to the cardio clinic where the patient denied any cardiac or non-cardiac symptoms. All her labs, ECG and Echo were within normal range. CMR showed diffuse subendocardial LGE suggestive of infiltrative disease.

Conclusion
Based on unique pathological features of CA that would present as morphological LVH with /without ECG evidence of LVH. We hypothesized that LVH would occur in the later stages of the disease or may be decreased due to other pathology as coronary artery disease. Clinical suspicion remains the cornerstone for early diagnosis and workup.
Atypical fractures at non-classical sites associated with anti-resorptive therapy: a systematic review
Authors: Collins Lucy , Ronan Alec , Hutcheon Evelyn , Ebeling Peter R , Grill Vivian , Nguyen Hanh H 
Published: September 2024

Abstract
Osteoporosis is common, affecting more than 20% of women and 6% of men globally over the age of 50. Anti-resorptive drugs, bisphosphonates and denosumab, have been effective treatments for osteoporosis for more than 30 years. Rare complications of anti-resorptive therapy include medication-related osteonecrosis of the jaw and atypical femur fractures (AFF). The American Society for Bone and Mineral Research (ASBMR) proposed a case definition for these atypical femoral fractures in 2010, which was updated in 2013. However, atypical fractures at non-classical sites have been increasingly described. We aimed to systematically identify atypical fracture cases excluded from the ASBMR AFF case definition in patients receiving anti-resorptive medication for longer than 3 yr. A structured search of electronic databases, including PubMed, Medline (Ovid), Embase (Ovid), Cochrane, and Web of Sciences, and hand-searching of conference abstracts were undertaken. All full-text articles written in English describing an atypical fracture in patients (aged &gt;18 yr) and receiving anti-resorptive medication for &gt;3 yr were included, with data extracted and analyzed by two independent reviewers. Sixty-six articles were identified, describing 151 cases of atypical fractures in 114 individuals. The most frequent fracture site was the ulna, followed by the tibia. All patients were taking anti-resorptive treatment prior to or at the time of fracture, most frequently alendronate monotherapy (44%). Most commonly, fractures were transverse in nature (95%), following minimal or no trauma (96%), and non-comminuted (98%) with cortical thickening of the surrounding bone (69%). Anti-resorptive treatment was ceased following an atypical fracture in the majority (89%). Atypical fractures are rare and should not deter physicians from appropriate anti-resorptive therapy for osteoporosis. However, clinicians should be alert to their presence at additional sites to the femur. An update of the current ASBMR AFF case definition to include other skeletal sites could be timely.
Genotype–phenotype correlations in 294 pediatric patients with osteogenesis imperfecta
Authors: Byrd Jay J , White Andrew C , Nissen Claire G , Schissel Makayla , Van Ormer Matthew , Velasco Danita , Wallace Maegen 
Published: September 2024

Abstract
Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility with extraskeletal manifestations mostly due to COL1A1 and COL1A2 variants. Currently, 23 genes have been implicated in the pathogenesis of OI; however, literature on genotype–phenotype correlation and incidence of non-skeletal clinical features are limited. This study aims to identify genotype–phenotype correlations in patients with OI, allowing clinicians to better inform families of prognosis, optimize patient care, and facilitate evidence-based clinical decision-making. We retrospectively reviewed 294 patients with OI to collect demographic data, clinical characteristics, and genotypic information. Patients were stratified by COL1A1/1A2 vs non-COL1A1/1A2 variants to evaluate differences in phenotype. The majority of OI was due to variants in COL1A1/1A2 (91%), with the remaining 9% due to non-COL1A1/1A2 variants. Most patients in the COL1A1/2 group were White compared to the non-COL1A1/2 group (78% vs 50%; p = 0.004). COL1A/1A2 patients had higher incidence of blue sclerae (83% vs 58%, p = 0.002), dentinogenesis imperfecta (49% vs 15%, p &lt; 0.001), and family history of OI (34% vs 12%, p = 0.03). Those in the non-COL1A1/1A2 group have higher rates of scoliosis compared to those in the COL1A1/1A2 group (62% vs 40%, p = 0.04), as well as higher rates of expressive language disorder/delay (15% vs 0.4% in non-COL1A1/1A2 and COL1A1/1A2 patients, respectively; p &lt; 0.001). Identifying the underlying molecular etiology early is imperative for optimal clinical care, allowing for appropriate risk counseling, identification of affected relatives, and improved anticipatory care and management. These data support that rare subtypes of OI occur more frequently in non-White individuals and demonstrated genetic associations with incidence of blue sclera, dentinogenesis imperfecta, scoliosis, and expressive language disorders.
Characterizing reproductive development in female white shrimp Penaeus setiferus (Decapoda: Dendrobranchiata: Penaeidae) in South Carolina, USA
Authors: Mitchell Alexandra C , Wagner Graham A , Kingsley-Smith Peter R , Brunson Jeff F , Kendrick Michael R 
Published: September 2024

ABSTRACT
Accurate assessments of female reproductive development are an important component to the sustainable management of the fishery of the white shrimp Penaeus setiferus (Linnaeus, 1767) in the southeastern U.S. Reproductive development has been commonly assessed macroscopically based on ovarian color; however, distinguishing females that have never spawned from those that have previously spawned using this approach can be challenging due to their similarity in appearance. Histological approaches allow for higher resolution in quantifying microscopic phases of reproductive development and may reveal evidence of prior spawning events. Our objective was to characterize reproductive development and spawning activity in female P. setiferus through histology by: 1) defining major phases of reproductive development; 2) investigating and distinguishing the characteristics of oocyte atresia; and 3) using a standardized framework to describe the phenology of ovarian development in P. setiferus. Weekly samples of female P. setiferus were collected from March to June 2022 and ovarian tissues from 520 individuals were processed histologically. A detailed framework for distinguishing microscopically-observed ovarian development phases based on defining oocyte characteristics is provided. Oocyte atresia was observed in the ovarian tissue of 51% (N = 264) of individuals examined, with further examination differentiating between non-spawning atresia (N = 205) and post-spawning atresia (N = 59). Individuals with no atresia and non-spawning atresia were present from all sampling events, whereas individuals with post-spawning atresia first appeared on 22 April 2022. Our descriptions of ovarian development and oocyte atresia contribute to a growing framework of standardized microscopic assessments that should be tested more broadly for applicability to other commercially important crustaceans.
Delimiting species, revealing cryptic diversity in Molytinae (Coleoptera: Curculionidae) weevil through DNA barcoding
Authors: Ren Jinliang , Zhang Runzhi 
Published: September 2024

Abstract
The subfamily Molytinae (Coleoptera: Curculionidae), being the second largest group within the family Curculionidae, exhibits a diverse range of hosts and poses a serious threat to agricultural and forestry industries. We used 1,290 cytochrome c oxidase subunit I (COI) barcodes to assess the efficiency of COI barcodes in species differentiation and uncover cryptic species diversity within weevils of Molytinae. The average Kimura 2-parameter distances within species, genus, and subfamily were 2.90%, 11.0%, and 22.26%, respectively, indicating significant genetic differentiation at both levels. Moreover, there exists a considerable degree of overlap between intraspecific (0%–27.50%) and interspecific genetic distances (GDs; 0%–39.30%). The application of Automatic barcode gap discovery, Assemble Species by Automatic Partitioning, Barcode Index Number, Poisson Tree Processes (PTP), Bayesian Poisson Tree Processes (bPTP), and jMOTU resulted in the identification of 279, 275, 494, 322, 320, and 279 molecular operational taxonomic units, respectively. The integration of 6 methods successfully delimited species of Molytinae in 86.6% of all examined morphospecies, surpassing a threshold value of 3% GD (73.0%). A total of 28 morphospecies exhibiting significant intraspecific divergences were assigned to multiple MOTUs, respectively, suggesting the presence of cryptic diversity or population divergence. The identification of cryptic species within certain morphological species in this study necessitates further investigation through comprehensive taxonomic practices in the future.
Anatomy of a pest control failure: introgression of cytochrome P450 337B3 alleles from invasive old-world bollworm into native corn earworm (Lepidoptera: Noctuidae)
Authors: Nufer Marissa I , Coates Brad S , Abel Craig A , O’Neill Patrick , McCracken Morgan , Jain Devendra , Pierce Calvin A , Glover James , Towles Tyler , Reddy Gadi V P , Perera Omaththage P 
Published: September 2024

Abstract
The establishment of invasive species populations can threaten the ecological balance in naïve habitats and impact agricultural production practices. Helicoverpa armigera (Hübner) (Lepidoptera: Noctuidae) (old-world bollworm, OWBW) and Helicoverpa zea (corn earworm, CEW) were geographically separated prior to the 2013 report of OWBW invasion into South America. Introgression of OWBW-specific cytochrome P450 337B3 (CYP337B3) gene into CEW was repeatedly detected across South America and the Caribbean. Two hybrids were documented from Texas in 2019. In this study, screening insects collected in Olathe, CO, USA, where a failure of pyrethroids to control CEW damage to conventional sweetcorn in 2023 detected 28.6% of insects with the OWBW-specific CYP337B3 marker. Nucleotide sequencing of the CYP337B3 gene identified 73.1% and 26.9% of insects carried CYP337B3v2 and CYP337B3v6 alleles, respectively, and 0.15 overall frequency of CYP337B3 alleles. Based on prior data for distinct phylogeographic origins of CYP337B3v2 and v6 alleles, our results indicate Olathe samples were derived from 2 different introductions: An uncertain source of the v6 allele that was initially reported in West Africa and possibly South American or Caribbean origin of the globally distributed v2 allele. One of the 1618 individuals screened also carried a ribosomal RNA internal transcribed spacer 1 derived from OWBW. Local selection pressures at the Olathe location imposed by repeated pyrethroid exposures are likely attributed to the prevalence of CYP337B3, where control practices hasten the accumulation of phenotypic resistance by adaptive introgression. Pyrethroid and other resistance factors carried by invasive OWBW may continue to impact CEW management tactics across the Americas.
The influence of self-generated song during aggression on brain serotonin levels in male crickets
Authors: Itoh Masanori T 
Published: September 2024

Abstract
Pairs of adult male crickets, Gryllus bimaculatus, fight and immediately determine winner and loser statuses. The winner male repeatedly produces an aggressive (rival) song by rubbing his forewings together. In this study, I removed the plectrum, a sound-producing structure in the forewing, from male crickets and measured their brain serotonin (5-hydroxytryptamine: 5-HT) levels immediately after a 10-min aggressive interaction. Pairs of plectrum-removed males fought and established clear winner–loser relationships, like the case of intact males. The plectrum-removed winner males frequently rubbed their forewings together, but were unable to produce song. Aggressive interaction reduced significantly brain 5-HT levels in the plectrum-removed males, regardless of their winner and loser statuses. Furthermore, the reduction of brain 5-HT was detected primarily in the central body, a group of neuropils spanning the midline of the brain. In contrast, in pairs of intact males, aggressive interaction reduced brain 5-HT levels in the loser males, but not in the winner males. Plectrum removal alone did not affect the brain’s 5-HT levels. These results suggest that aggressive song emitted by the winner male cricket prevents the reduction of 5-HT levels in his own brain, especially in the central body.
Peroxisomal import stress activates integrated stress response and inhibits ribosome biogenesis
Authors: Kim Jinoh , Huang Kerui , Vo Pham Thuy Tien , Miao Ting , Correia Jacinta , Kumar Ankur , Simons Mirre J P , Bai Hua 
Published: September 2024

Abstract
Impaired organelle-specific protein import triggers a variety of cellular stress responses, including adaptive pathways to balance protein homeostasis. Most of the previous studies focus on the cellular stress response triggered by misfolded proteins or defective protein import in the endoplasmic reticulum or mitochondria. However, little is known about the cellular stress response to impaired protein import in the peroxisome, an understudied organelle that has recently emerged as a key signaling hub for cellular and metabolic homeostasis. To uncover evolutionarily conserved cellular responses upon defective peroxisomal import, we carried out a comparative transcriptomic analysis on fruit flies with tissue-specific peroxin knockdown and human HEK293 cells expressing dominant-negative PEX5C11A. Our RNA-seq results reveal that defective peroxisomal import upregulates integrated stress response (ISR) and downregulates ribosome biogenesis in both flies and human cells. Functional analyses confirm that impaired peroxisomal import induces eIF2α phosphorylation and ATF4 expression. Loss of ATF4 exaggerates cellular damage upon peroxisomal import defects, suggesting that ATF4 activation serves as a cellular cytoprotective mechanism upon peroxisomal import stress. Intriguingly, we show that peroxisomal import stress decreases the expression of rRNA processing genes and inhibits early pre-rRNA processing, which leads to the accumulation of 47S precursor rRNA and reduction of downstream rRNA intermediates. Taken together, we identify ISR activation and ribosome biogenesis inhibition as conserved adaptive stress responses to defective peroxisomal import and uncover a novel link between peroxisomal dysfunction and rRNA processing.
Systemic inflammation in asymptomatic hyperuricaemia with sonographic crystal deposits, including a comparison with normouricaemia and gout
Authors: Peral-Garrido María-Luisa , Gómez-Sabater Silvia , Caño Rocío , Bermúdez-García Alejandra , Boix Paula , Lozano Teresa , Sánchez-Ortiga Ruth , Perdiguero Miguel , Caro-Martínez Elena , Ruiz-García Carolina , Francés Rubén , Pascual Eliseo , Andrés Mariano 
Published: September 2024

Abstract

Objective
To describe the inflammatory profile of asymptomatic hyperuricaemia (AH) with ultrasound evidence of monosodium urate (MSU) crystals (AH-MSUpos), vs AH without deposits (AH-MSUneg), intercritical gout and normouricaemia.

Methods
Based on serum urate levels, musculoskeletal ultrasound and history of flares, we divided 122 participants into four groups: normouricaemia, AH-MSUneg, AH-MSUpos and intercritical gout. We tested four ultrasound definitions for MSU deposition in AH: grade 2–3 (G2–3) double contour and/or tophi, G1–3 double contour and/or tophi, G1–3 Stewart scheme (double contour sign in knee cartilage and/or first metatarsophalangeal joint and/or tophi in first metatarsophalangeal joint) and G2–3 Stewart scheme. Serum acute phase reactants, cytokines, pyroptosis derivates and neutrophil-related proteins were measured and compared between groups. A linear regression model was fitted to correlate crystal and inflammatory burden (measured by ultrasound) with inflammatory markers in hyperuricaemics.

Results
Rates of MSU deposition in AH ranged from 26.0% to 68.8%, depending on the definition used. Levels of CRP, leukocytes, IL-1RA, IL-6, sIL-6R, IL-18, TNF-α, TGF-β and galectin-3 were higher in hyperuricaemics vs normouricaemics. Sex, obesity and comorbidity scores influenced some comparisons. We saw no differences comparing AH-MSUpos vs AH-MSUneg groups, except for higher calprotectin using G1–3 sonographic definitions and higher CRP and TGF-β when restricted to women and obese participants.

Conclusions
Hyperuricaemia is associated with substantial inflammation and some degree of active pyroptosis. Four different ultrasound definitions for AH with MSU deposits yielded similar findings, although we noted some differences in calprotectin, CRP, and TGF-β. Sex, obesity, and comorbidities influenced some inflammatory responses.
The appointment of trustees, disclaimer of gifts and legal personality: fundamental principles and conceptual limits
Authors: Walsh Xavier P , Cordeschi Daniel B 
Published: September 2024

Abstract
What happens when an executor of a Will is gifted property under that Will in its capacity as trustee of an existing trust but later disclaims the gift in that capacity? What purpose is served by the executor then seeking to be appointed by the Court as trustee over the same property? These questions were presented by the unique facts in Perpetual Trustee Company Ltd v University of New South Wales [2023] NSWSC 1061. This article uses the facts and decision in Perpetual to explore fundamental principles and conceptual limits concerning: the Court’s jurisdiction(s) to appoint trustees; the proposition that a trustee can(not) hold property on trust for itself; and the disclaimer of gifts.
Outcomes of Xenograft with Platelet-rich Fibrin versus Autogenous Bone in Alveolar Cleft Grafting
Authors: Bedeer Hager Montaser , Asklany Awny , Ali Wagdi M. , Elyounsi Mohamed , Mohammed Mohamed Nahed Attia , Youssef Mostafa Mahmoud , El-shazly Mohamed 
Published: September 2024

Background:
The use of a suitable graft material helps with sufficient osseointegration. The aim of this study was to compare the clinical and radiographic outcomes of two types of alveolar bone graft materials, xenografts with platelet-rich fibrin (PRF) and autogenous grafts, in patients with alveolar clefts.

Methods:
Thirty-six patients with alveolar clefts were enrolled in this study. Those patients were randomly divided into two groups: group A, where the autogenous iliac bone graft was used to fill the alveolar defect, and group B, where the xenograft with PRF was used to fill the alveolar defect. After 6 months of grafting, patients were assessed in terms of pain, duration of hospital stay, and donor site morbidity associated with iliac crest harvesting, while bone formation was evaluated radiographically using cone beam computed tomography.

Results:
The results showed no statistical differences as regards baseline and perioperative data. Operative duration was significantly lower among xenograft with PRF patients. Both groups had comparable postoperative success scores, and total failure was reported in a total of three patients (one patient in group A and two patients in group B).

Conclusions:
With no potential donor site morbidities, xenograft with PRF is an equivalent bone transplant replacement to the autologous iliac bone graft. Additionally, it is associated with a significant success rate, and a significant decrease in operative time and hospital stay. Many future studies are warranted to draw firm conclusions.
Transplantation for immune dysregulatory disorders: current themes and future expectations
Authors: McClory Susan E. , Oved Joseph H. 
Published: September 2024

Purpose of review
Primary immune regulatory disorders (PIRDs) are an increasing indication for hematopoietic stem cell transplant (HCT) in pediatric patients. Here, we provide an updated overview of HCT for PIRDs, and discuss future avenues for improvement in outcomes.

Recent findings
There are now more than 50 described monogenic PIRDs, which impact all aspects of immune tolerance, regulation, and suppression. Disease characteristics are highly variable, and HCT remains the only option for cure. We review advances in targeted therapies for individual PIRDs, which have significantly improved outcomes and the ability to safely bridge to transplant. Additionally, advances in GVHD prevention, graft manipulation, personalized conditioning regimens, and supportive care have all increased survival after HCT. The high inflammatory state increases the risk of nonengraftment, rejection, and autologous reconstitution. Therapy to reduce the inflammatory state may further improve outcomes. In addition, although younger patients with fewer comorbidities have better outcomes, the clinical courses of these diseases may be extremely variable thereby complicating the decision to proceed to HCT.

Summary
HCT for PIRDs is a growing consideration in cell therapy. Yet, there remain significant gaps in our understanding of which patients this curative therapy could benefit the most. Here, we review the current data supporting HCT for PIRDs as well as areas for future improvement.