bluuebunny/crossref_metadata_2025 huggingface dataset:
Transcriptomics and proteomics revealed sex differences in human pulmonary microvascular endothelial cells
Authors: Kostyunina Daria S. , Pakhomov Nikolai V. , Jouida Amina , Dillon Eugene , Baugh John A. , McLoughlin Paul
Published: December 2023

There is marked sexual dimorphism in the development and progression of pulmonary hypertension. We show differences in RNA and protein expression between female and male human pulmonary microvascular endothelial cells grown under conditions of physiological shear stress, which identify sex-different cellular pathways both in normoxia and hypoxia. Importantly, these differences were detected in the absence of sex hormone differences. The pathways identified may provide novel targets for the development of sex-specific therapies.
PANoptosis in vascular smooth muscle cells regulated by TNF-α/IL-1β can be a new target for alleviating the progression of abdominal aortic aneurysm
Authors: Li Kun , Wei Mingyang , Zhang Dongbin , Zhai Shuiting , Liu Hongzhi
Published: December 2023

Early detection, diagnosis, and treatment are very important to improve the quality of life and prognosis of patients with abdominal aortic aneurysm (AAA). Based on the findings of apoptosis, necroptosis, and pyroptosis (PANoptosis) in AAA clinical samples, this study further explored the molecular mechanism in vivo and in vitro. Specifically, inhibition of tumor necrosis factor-α and interleukin-1β can reduce PANoptosis in vascular smooth muscle cell and thus alleviate the process of AAA.
Transcriptomics analysis of allergen-induced inflammatory gene expression in the Four-Core Genotype mouse model
Authors: Ekpruke Carolyn Damilola , Alford Rachel , Rousselle Dustin , Babayev Maksat , Sharma Shikha , Commodore Sarah , Buechlein Aaron , Rusch Douglas B. , Silveyra Patricia
Published: December 2023

Gene expression profiling helps to provide deep insight into the global view of disease-related mechanisms and responses to therapy. Using the Four-Core Genotype mouse model, our findings revealed the influence of sex hormones and sex chromosomes in the gene expression of lungs exposed to an aeroallergen (House Dust Mite) and identified sex-specific pathways to better understand sex disparities associated with allergic airway inflammation.
Busting the Breast Cancer with AstraZeneca’s Gefitinib
Authors: Chemmalar S. , Intan Shameha A. R. , Che Abdullah Che Azurahanim , Ab Razak Nor Asma , Yusof Loqman Mohamad , Ajat Mokrish , Chan Kim Wei , Abu Bakar Zakaria Md Zuki
Published: December 2023

Breast cancer is the most common cancer diagnosed in women, and in 2020, there were 684, 996 deaths due to this disease. Epidermal growth factor receptors (EGFRs) and their respective ligands have been blamed for the pathogenesis and resistance to treatment in specific breast cancer cases. With EGFR having four homologues: EGFR1, EGFR2, EGFR3, and EGFR4, in-depth understanding of EGFR biology led to the discovery of small-molecule inhibitors and antibodies against this receptor. Gefitinib (GEF), a tyrosine kinase inhibitor of EGFR1, possesses a vast potential for treatment against breast cancer and is supported by a multiplicity of experiments. Unfortunately, in clinical trials, GEF did not show the outcomes expected with complete response and disease progress. This is due to incomplete understanding of the molecular mechanisms involved in EGFR signaling and endocrine sensitivity. Hence, additional in-depth experiments are needed regarding various molecular pathways and crosstalk pathways to comprehend GEF’s action mechanism thoroughly in breast cancer patients. In this review, the role of EGFR in the development and pathogenesis of breast cancer and the pharmacokinetics and pharmacotherapy of GEF for the treatment of breast cancer have been elaborated. Nanomedicines synthesized with GEF have shown positive experimental response, paving a promising path for GEF against breast cancer.
Attenuation Relationships for the Horizontal Component of Peak Ground Acceleration (PGAH) Using Gene Expression Programing (GEP) and Group Method of Data Handling (GMDH)
Authors: Ajam Mehrasa , Shamekhi Amiri Mohammad , Pahlavan Hossein
Published: December 2023

Earthquake is one of the natural disasters that has always influenced human life. It is not currently possible to predict exactly when and where an earthquake will occur, nor how large it will be. It is also impossible to prevent an earthquake. However, by designing seismic-resistant structures, the amount of financial losses and casualties can be reduced. This resistant design requires the use of earthquake risk analysis. By using the earthquake risk analysis, it will be possible to estimate the parameters of the strong ground motion, including acceleration, velocity, and displacement in each area. Estimating the parameters of strong ground motion will be possible just by obtaining the appropriate attenuation relationship. The aim of this paper is to present an appropriate attenuation relationship to estimate the horizontal component of the possible occurrence of peak ground acceleration in each region. Two methods were used to calculate attenuation relationship: gene expression programing (GEP) and group method of data handling (GMDH). In the first step, an up-to-date and comprehensive catalog consisting of 1,185 earthquake records that occurred around the world has been prepared. In the next step, the parameters of magnitude, hypocentral distance, and shear wave velocity of these records have been used as variables of the attenuation relationship. Then, the fitness function (f) was determined, and attenuation relationships were calculated using GEP and GMDH. The amount of fitness function (f) was obtained 766.12 from 1,000 in the GEP method and 767.77 from 1,000 in the GMDH method. The values of the fitness function, residuals and comparison plots showed a high-agreement between “the values predicted by the attenuation relationships” and “the actual values observed in the earthquakes.” Finally, according to the results of this research, it can be said that the use of GEP and GMDH methods has provided better results than the other similar researches. Also, the use of up-to-date records makes the results of this research more reliable than the previous researches.
Pilot Study of High-Dose Pemetrexed in Patients with Progressive Chordoma
Authors: Kesari Santosh , Wagle Naveed , Carrillo Jose A. , Sharma Akanksha , Nguyen Minhdan , Truong Judy , Gill Jaya M. , Nersesian Raffi , Nomura Natsuko , Rahbarlayegh Elnaz , Barkhoudarian Garni , Sivakumar Walavan , Kelly Daniel F. , Krauss Howard , Bustos Matias A. , Hoon Dave S.B. , Anker Lars , Singh Arun S. , Sankhala Kamalesh K. , Juarez Tiffany M.
Published: December 2023

Purpose:

Chordomas are ultrarare tumors of the axial spine and skull-base without approved systemic therapy. Most chordomas have negative expression of thymidylate synthase (TS), suggesting a potential for responding to the antifolate agent pemetrexed, which inhibits TS and other enzymes involved in nucleotide biosynthesis. We evaluated the therapeutic activity and safety of high-dose pemetrexed in progressive chordoma.

Patients and Methods:

Adult patients with previously treated, progressive chordoma participated in an open-label, single-institution, single-arm, pilot clinical trial of intravenous pemetrexed 900 mg/m2 every 3 weeks and supportive medications of folic acid, vitamin B12, and dexamethasone. The primary endpoint was objective response rate according to RECIST v1.1. Secondary endpoints included adverse events, progression-free survival (PFS), tumor molecular profiles, and alterations in tissue and blood-based biomarkers.

Results:

Fifteen patients were enrolled and the median number of doses administered was 15 (range, 4–31). One patient discontinued treatment due to psychosocial issues after four cycles and one contracted COVID-19 after 13 cycles. Of the 14 response-evaluable patients, 2 (14%) achieved a partial response and 10 (71%) demonstrated stable disease. Median PFS was 10.5 months (95% confidence interval: 9 months–undetermined) and 6-month PFS was 67%. Adverse events were expected and relatively mild, with one grade 3 creatinine increased, and one each of grade 3 and 4 lymphopenia. No grade 5 adverse events, unexpected toxicities, or dose-limiting toxicities were observed. Several patients reported clinical improvement in disease-related symptoms.

Conclusions:

High-dose pemetrexed appears tolerable and shows objective antitumor activity in patients with chordoma. Phase II studies of high-dose pemetrexed are warranted.
INX-315, a Selective CDK2 Inhibitor, Induces Cell Cycle Arrest and Senescence in Solid Tumors
Authors: Dietrich Catherine , Trub Alec , Ahn Antonio , Taylor Michael , Ambani Krutika , Chan Keefe T. , Lu Kun-Hui , Mahendra Christabella A. , Blyth Catherine , Coulson Rhiannon , Ramm Susanne , Watt April C. , Matsa Sunil Kumar , Bisi John , Strum Jay , Roberts Patrick , Goel Shom
Published: December 2023

Cyclin-dependent kinase 2 (CDK2) is thought to play an important role in driving proliferation of certain cancers, including those harboring CCNE1 amplification and breast cancers that have acquired resistance to CDK4/6 inhibitors (CDK4/6i). The precise impact of pharmacologic inhibition of CDK2 is not known due to the lack of selective CDK2 inhibitors. Here we describe INX-315, a novel and potent CDK2 inhibitor with high selectivity over other CDK family members. Using cell-based assays, patient-derived xenografts (PDX), and transgenic mouse models, we show that INX-315 (i) promotes retinoblastoma protein hypophosphorylation and therapy-induced senescence (TIS) in CCNE1-amplified tumors, leading to durable control of tumor growth; (ii) overcomes breast cancer resistance to CDK4/6i, restoring cell cycle control while reinstating the chromatin architecture of CDK4/6i-induced TIS; and (iii) delays the onset of CDK4/6i resistance in breast cancer by driving deeper suppression of E2F targets. Our results support the clinical development of selective CDK2 inhibitors.

Significance:

INX-315 is a novel, selective inhibitor of CDK2. Our preclinical studies demonstrate activity for INX-315 in both CCNE1-amplified cancers and CDK4/6i–resistant breast cancer. In each case, CDK2 inhibition induces cell cycle arrest and a phenotype resembling cellular senescence. Our data support the development of selective CDK2 inhibitors in clinical trials.

See related commentary by Watts and Spencer, p. 386.

This article is featured in Selected Articles from This Issue, p. 384
Supplementary Figure 3 from Phase Ib Trial of Phenformin in Patients with V600-mutated Melanoma Receiving Dabrafenib and Trametinib
Authors: Chapman Paul B. , Klang Mark , Postow Michael A. , Shoushtari Alexander Noor , Sullivan Ryan J. , Wolchok Jedd D. , Merghoub Taha , Budhu Sadna , Wong Phillip , Callahan Margaret K. , Zheng Bin , Zippin Jonathan
Published: December 2023

Supplementary Figure 3. Effect of treatment on pAMPK expression in peripheral blood mononuclear cells.
Supplementary Figure 1 from Phase Ib Trial of Phenformin in Patients with V600-mutated Melanoma Receiving Dabrafenib and Trametinib
Authors: Chapman Paul B. , Klang Mark , Postow Michael A. , Shoushtari Alexander Noor , Sullivan Ryan J. , Wolchok Jedd D. , Merghoub Taha , Budhu Sadna , Wong Phillip , Callahan Margaret K. , Zheng Bin , Zippin Jonathan
Published: December 2023

Supplementary Figure 1. Time to first phenformin-related event for patients treated at the 50 mg bid dose level (N=6) and the 100 mg bid dose level (N=5).
FIGURE 3 from Phase Ib Trial of Phenformin in Patients with V600-mutated Melanoma Receiving Dabrafenib and Trametinib
Authors: Chapman Paul B. , Klang Mark , Postow Michael A. , Shoushtari Alexander Noor , Sullivan Ryan J. , Wolchok Jedd D. , Merghoub Taha , Budhu Sadna , Wong Phillip , Callahan Margaret K. , Zheng Bin , Zippin Jonathan
Published: December 2023

Effect of treatment on percentage of circulating MDSCs derived from flow cytometric analysis of PBMC samples from patients treated at the 150 and 200 mg bid dose level. Dotted lines indicate times when patient was not taking phenformin. bid, twice daily.
Data from Phase Ib Trial of Phenformin in Patients with V600-mutated Melanoma Receiving Dabrafenib and Trametinib
Authors: Chapman Paul B. , Klang Mark , Postow Michael A. , Shoushtari Alexander Noor , Sullivan Ryan J. , Wolchok Jedd D. , Merghoub Taha , Budhu Sadna , Wong Phillip , Callahan Margaret K. , Zheng Bin , Zippin Jonathan
Published: December 2023

AbstractPurpose:
Preclinical studies show that activation of AMP kinase by phenformin can augment the cytotoxic effect and RAF inhibitors in BRAF V600-mutated melanoma. We conducted a phase Ib dose-escalation trial of phenformin with standard dose dabrafenib/trametinib in patients with metastatic BRAF V600-mutated melanoma.
Experimental Design:
We used a 3+3 dose-escalation design which explored phenformin doses between 50 and 200 mg twice daily. Patients also received standard dose dabrafenib/trametinib. We measured phenformin pharmacokinetics and assessed the effect of treatment on circulating myeloid-derived suppressor cells (MDSC).
Results:
A total of 18 patients were treated at dose levels ranging from 50 to 200 mg twice daily. The planned dose-escalation phase had to be cancelled because of the COVID 19 pandemic. The most common toxicities were nausea/vomiting; there were two cases of reversible lactic acidosis. Responses were seen in 10 of 18 patients overall (56%) and in 2 of 8 patients who had received prior therapy with RAF inhibitor. Pharmacokinetic data confirmed drug bioavailability. MDSCs were measured in 7 patients treated at the highest dose levels and showed MDSC levels declined on study drug in 6 of 7 patients.
Conclusions:
We identified the recommended phase II dose of phenformin as 50 mg twice daily when administered with dabrafenib/trametinib, although some patients will require short drug holidays. We observed a decrease in MDSCs, as predicted by preclinical studies, and may enhance immune recognition of melanoma cells.
Significance:
This is the first trial using phenformin in combination with RAF/MEK inhibition in patients with BRAF V600-mutated melanoma. This is a novel strategy, based on preclinical data, to increase pAMPK while blocking the MAPK pathway in melanoma. Our data provide justification and a recommended dose for a phase II trial.
Inhibition of PRL2 Upregulates PTEN and Attenuates Tumor Growth in Tp53-deficient Sarcoma and Lymphoma Mouse Models
Authors: Nguele Meke Frederick , Bai Yunpeng , Ruiz-Avila Diego , Carlock Colin , Ayub Jinan , Miao Jinmin , Hu Yanyang , Li Qinglin , Zhang Zhong-Yin
Published: December 2023

The phosphatases of regenerating liver (PRL) are oncogenic when overexpressed. We previously found that PRL2 deletion increases PTEN, decreases Akt activity, and suppresses tumor development in a partial Pten-deficient mouse model. The current study aims to further establish the mechanism of PTEN regulation by PRL2 and expand the therapeutic potential for PTEN augmentation mediated by PRL2 inhibition in cancers initiated without PTEN alteration. The TP53 gene is the most mutated tumor suppressor in human cancers, and heterozygous or complete deletion of Tp53 in mice leads to the development of sarcomas and thymic lymphomas, respectively. There remains a lack of adequate therapies for the treatment of cancers driven by Tp53 deficiency or mutations. We show that Prl2 deletion leads to PTEN elevation and attenuation of Akt signaling in sarcomas and lymphomas developed in Tp53 deficiency mouse models. This results in increased survival and reduced tumor incidence because of impaired tumor cell proliferation. In addition, inhibition of PRL2 with a small-molecule inhibitor phenocopies the effect of genetic deletion of Prl2 and reduces Tp53 deficiency–induced tumor growth. Taken together, the results further establish PRL2 as a negative regulator of PTEN and highlight the potential of PRL2 inhibition for PTEN augmentation therapy in cancers with wild-type PTEN expression.

Significance:

Prl2 deletion attenuates Tp53 deficiency–induced tumor growth by increasing PTEN and reducing Akt activity. Targeting Tp53-null lymphoma with PRL inhibitors lead to reduced tumor burden, providing a therapeutic approach via PTEN augmentation.
Serum Phosphorus Might Be a Predictor of Kidney Disease Progression in IgA Nephropathy
Authors: Li Huixian , Lu Wanhong , Xie Xinfang , Wang Ying , Dang Xiangyun , Sun Jiping , Jiang Hongli
Published: December 2023

Introduction: High serum phosphorus level has been reported to be a risk factor for disease progression in patients with chronic kidney disease, whereas, its role in IgA nephropathy (IgAN) still remains uncertain. This study aimed to investigate the association between serum phosphorus and progression of IgAN. Methods: A total of 247 patients diagnosed with IgAN from 2016.11 to 2019.12 at the First Affiliated Hospital of Xi'an Jiaotong University were retrospectively enrolled in this study. The association between serum phosphorus and kidney disease progression events, defined as 30% estimated glomerular filtration rate (eGFR) decline or kidney failure, was evaluated using Cox models. Results: Serum phosphorus was an independent risk factor for poor renal outcome after adjusting for age, gender, urine protein, MAP, eGFR, hemoglobin, Oxford S and T scores (HR, 2.586; 95% CI, 1.238–5.400, p = 0.011). The addition of serum phosphorus to the reference model containing clinical and pathological variables significantly improved the risk prediction of IgAN progression (C statistic, 0.836; 95% CI, 0.783–0.889) as compared with the reference model (C statistic, 0.821; 95% CI, 0.756–0.886). The ability of serum phosphorus level to predict progression was much stronger in IgAN patients without use of immunosuppression (HR 5.173; 95% CI, 1.791–14.944; p = 0.002). Conclusion: Higher serum phosphorus levels were independently associated with kidney disease progression in patients with IgAN, especially in those without immunosuppression. The addition of serum phosphorus to clinical and pathological data at the time of biopsy significantly improved risk prediction of IgAN progression.
Epidemiology and Functional Impact of Early Peripheral Neuropathy Signs in Older Adults from a General Population
Authors: Bronge William , Lindholm Beata , Elmståhl Sölve , Siennicki-Lantz Arkadiusz
Published: December 2023

Introduction: Peripheral neuropathy (PN) becomes more common with increasing life expectancy, but general population prevalence estimates are lacking. We investigated an epidemiological distribution of signs of PN among 2,996 community-dwelling participants in Good Aging in Skåne Study, age 60–97, and their impact on physical and autonomic function. Methods: Signs of PN were measured with Utah Early Neuropathy Scale (UENS). Associations between UENS and physical tests, pain, and dysautonomic phenomena were calculated for each sex, adjusted for age, with estimated marginal means (EMM) and odds ratios (ORs) in four UENS quantiles (Q1–Q4). Results: Participants in Q4 had worse EMM for: time to complete Timed Up and Go test (Q4–Q1: male 10.8–9.6 s; female 11.7–10.2 s), 15 m Walk test (Q4–Q1: male 11.1–9.9 s; female 11.2–10.4 s), and fewer repetitions in Step test (Q4–Q1: male 15.2–17.0 steps; female 14.5–15.8 steps). Higher OR of failing one-leg balance 60 s test {male 2.5 (confidence interval [CI] 95%: 1.7–3.8); female 2.1 (1.1–3.2)}, Foam Pad Balance test (male 4.6 [CI 95%: 3.2–6.7]; female 1.8 [1.3–2.6]), and lower physical quality of life were seen in Q4 compared to Q1. Participants in Q4 had higher OR for walking aid usage, falls, fear of falling, pain, and urinary incontinence, while in males, higher OR for orthostatic intolerance, fecal incontinence, and constipation. Conclusions: In a general population, 20–25% of older adults who have highest UENS scores, a sensitive measure of early PN, express slower gait, worse balance, lower quality of life, pain, falls and fear of falling, and autonomic symptoms.
Pengeluaran Pemerintah Daerah dan Rumah Tangga untuk Pendidikan menurut Kelompok Pendapatan
Authors: Ayu Putri Puspita , Qibthiyyah Riatu Mariatul
Published: December 2023

Penelitian ini dilakukan untuk menganalisis pengaruh pengeluaran pendidikan oleh pemerintah daerah terhadap pengeluaran pendidikan oleh rumah tangga menurut kelompok pendapatan. Sumber data utama yang digunakan berasal dari Indonesian Family Life Survey (IFLS) 2007 dan 2014 serta APBD kabupaten/kota. Dengan model tobit, penelitian ini menemukan hasil bahwa peningkatan belanja pemerintah untuk pendidikan dasar berhubungan dengan pengurangan yang signifikan dalam pengeluaran pendidikan dasar oleh rumah tangga di setiap kelompok pendapatan. Menurut jenis pengeluaran, peningkatan pengeluaran pendidikan oleh pemerintah signifikan mengurangi pengeluaran iuran sekolah di semua kelompok pendapatan. Sementara itu, pengurangan pengeluaran untuk peralatan sekolah, transport dan kursus hanya terjadi pada rumah tangga berpendapatan rendah dan menengah.
Plástico de uso único no Brasil: mapeamento de atores
Authors:   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Gonçalves-Dias Sylmara Lopes Francelino , Vallin Isabella de Carvalho ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidade, Carvalho Isabela Ribeiro Borges de ,   Universidade de São Paulo. Instituto de Energia e Ambiente, Dias Beatriz Magalhães ,   Universidade de São Paulo. Instituto de Energia e Ambiente, Corrêa Carolina Berti de Souza ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Salles Guilherme dos Santos ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Silva Júlia Valle ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades
Published: December 2023

O terceiro volume da coleção "NOSS Repensando o Plástico" trata sobre um breve mapeamento dos atores envolvidos na governança dos plásticos no Brasil. Para compreender os desdobramentos dos arranjos, leis e políticas que abordam o plástico no país é importante compreender quem são os tomadores de decisão envolvidos, as estratégias adotadas e suas narrativas.
Por que os descartáveis são um problema?
Authors:   Faculdade de Tecnologia de Jacareí, Pagotto Érico Luciano , Paiva Daniel Felipe de ,   Moeté Filmes, Gonçalves-Dias Sylmara Lopes Francelino ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Vallin Isabella de Carvalho ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Carvalho Isabela Ribeiro Borges de ,   Universidade de São Paulo. Instituto de Energia e Ambiente
Published: December 2023

Diante da importância de se ampliar o debate da poluição por plástico para fora do ambiente acadêmico, de forma a incluir catadores, usuários dos sistemas de saneamento básico, estudantes do ensino básico, professores e a sociedade civil como um todo, o volume IV da coleção traz atividades pedagógicas com o intuito de despertar a atenção pública para o problema e contribuir para a construção de uma visão mais crítica sobre a complexa questão dos plásticos. Esta obra integra a coleção "NOSS Repensando o Plástico".
Diário Zero Plástico: descubra sua pegada de plástico
Authors:   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Vallin Isabella de Carvalho , Dias Beatriz Magalhães ,   Universidade de São Paulo. Instituto de Energia e Ambiente, Gonçalves-Dias Sylmara Lopes Francelino ,   Universidade de São Paulo. Escola de Artes, Ciências e Humanidades, Carvalho Isabela Ribeiro Borges de ,   Universidade de São Paulo. Instituto de Energia e Ambiente
Published: December 2023

Independente de onde esteja, descubra a sua pegada em plástico! Este diário tem o intuito de ser um guia. Através de alguns exercícios, você vai descobrir o quanto e quais plásticos mais consome ao longo de uma semana! O preenchimento do Diário Zero Plástico vai mostrar a quantidade de material plástico gerado em nosso cotidiano. A visualização do tamanho de nossa "pegada em plástico" pode facilitar mudanças em nossas atitudes para um mundo mais #PlasticFree. Com o diário, você será capaz de: i. quantificar os resíduos plásticos que você gera; ii. saber quais tipos de plástico estão mais presentes no seu dia a dia; iii. implementar mudanças de atitudes simples, seja na sua casa, faculdade ou qualquer outro lugar, mas que podem ter um impacto positivo enorme! Esta obra integra a coleção "NOSS Repensando o Plástico".
Impact of
GLA
Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies
Authors: Monda Emanuele , Diana Gaetano , Graziani Francesca , Rubino Marta , Bakalakos Athanasios , Linhart Ales , Germain Dominique P. , Scarpa Maurizio , Biagini Elena , Pieroni Maurizio , Elliott Perry Mark , Limongelli Giuseppe
Published: December 2023

BACKGROUND:

The diagnosis of Fabry disease (FD) has relevant implications related to the management. Thus, a clear assignment of
GLA
variant pathogenicity is crucial. This systematic review and meta-analysis aimed to investigate the prevalence of FD in high-risk populations and newborns and evaluate the impact of different
GLA
variant classifications on the estimated prevalence of FD.

METHODS:

We searched the EMBASE and PubMed databases on February 21, 2023. Observational studies evaluating the prevalence of FD and reporting the identified
GLA
variants were included.
GLA
variants were re-evaluated for their pathogenicity significance using the American College of Medical Genetics and Genomics criteria and the ClinVar database. The pooled prevalence of FD among different settings was calculated. The study was registered on PROSPERO (CRD42023401663) and followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines.

RESULTS:

Of the 3941 studies identified, 110 met the inclusion criteria. The pooled prevalence of FD was significantly different according to the clinical setting and criteria used for the pathogenicity assessment. Using the American College of Medical Genetics and Genomics criteria, the pooled prevalence was 1.2% in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy (26 studies; 10 080 patients screened), 0.3% in end-stage renal disease/chronic kidney disease (38 studies; 62 050 patients screened), 0.7% in stroke (25 studies; 15 295 patients screened), 0.7% in cardiac conduction disturbance requiring pacemaker (3 studies; 1033 patients screened), 1.0% in small-fiber neuropathy (3 studies; 904 patients screened), and 0.01% in newborns (15 studies; 11 108 793 newborns screened). The pooled prevalence was different if the
GLA
variants were assessed using the ClinVar database, and most patients with a discrepancy in the pathogenicity assignment carried 1 of the following variants: p.A143T, p.D313Y, and p.E66Q.

CONCLUSIONS:

This systematic review and meta-analysis describe the prevalence of FD among newborns and high-risk populations, highlighting the need for a periodic reassessment of the
GLA
variants in the context of recent clinical, biochemical, and histological data.

REGISTRATION:

URL:
https://crd.york.ac.uk/PROSPERO/
; Unique identifier: CRD42023401663.
First record of the megamouth shark Megachasma pelagios (Lamniformes: Megachasmidae), from the United Republic of Tanzania
Authors: BEUNINGEN DAVID VAN , BENNETT RHETT H. , ABDULLA ABDALLA S.
Published: December 2023

The megamouth shark Megachasma pelagios (Lamniformes: Megachasmidae) was described in 1976 from a specimen caught off Hawaii (Taylor et al. 1983) and is the only extant member of its family and genus (Diez et al. 2022). From 1976 to 2010 M. pelagios was considered rare, with only 50 individuals recorded globally during that time (Nakaya 2010). In recent years it is apparent that it is more common and widespread than previously thought, with 273 confirmed records to date across 16 countries in the Atlantic, Indian and Pacific Oceans (Yu et al. 2021; Diez et al. 2022; Skelton et al. 2023). This species is classified as Least Concern on the IUCN Red List of Threatened Species, as it is globally distributed and does not appear to be heavily impacted by fisheries (Kyne et al. 2019).
Generation and Evolution of Internal Solitary Waves in a Coastal Plain Estuary
Authors: Li Renjian , Li Ming
Published: December 2023

Large-amplitude internal solitary waves were recently observed in a coastal plain estuary and were hypothesized to evolve from an internal lee wave generated at the channel–shoal interface. To test this mechanism, a 3D nonhydrostatic model with nested domains and adaptive grids was used to investigate the generation of the internal solitary waves and their subsequent nonlinear evolution. A complex sequence of wave propagation and transformation was documented and interpreted using the nonlinear wave theory based on the Korteweg–de Vries equation. During the ebb tide a mode-2 internal lee wave is generated by the interaction between lateral flows and channel–shoal topography. This mode-2 lee wave subsequently propagates onto the shallow shoal and transforms into a mode-1 wave of elevation as strong mixing on the flood tide erases stratification in the bottom boundary layer and the lower branch of the mode-2 wave. The mode-1 wave of elevation evolves into an internal solitary wave due to nonlinear steepening and spatial changes in the wave phase speed. As the solitary wave of elevation continues to propagate over the shoaling bottom, the leading edge moves ahead as a rarefaction wave while the trailing edge steepens and disintegrates into a train of rank-ordered internal solitary waves, due to the combined effects of shoaling and dispersion. Strong turbulence in the bottom boundary layer dissipates wave energy and causes the eventual destruction of the solitary waves. In the meantime, the internal solitary waves can generate elevated shear and dissipation rate in local regions.

Significance Statement

In the coastal ocean nonlinear internal solitary waves are widely recognized to play an important role in generating turbulent mixing, modulating short-term variability of nearshore ecosystem, and transporting sediment and biochemical materials. However, their effects on shallow and stratified estuaries are poorly known and have been rarely studied. The nonhydrostatic model simulations presented in this paper shed new light into the generation, propagation, and transformation of the internal solitary waves in a coastal plain estuary.
Psychological Underpinnings of Terror Awareness: A Comprehensive Dive into Ukrainians’ Perception of Terrorist Threats Amidst War Tensions
Authors: Lunov Vitalii , Maltsev Oleg , Matiash Mykhailo , Mosiichuk Vasyl , Tkach Bohdan
Published: December 2023

This article delves into the intricate dynamics of terrorist threat perceptions, particularly within the context of the Russian–Ukrainian war. By weaving together narrative understanding, cognitive and metacognitive styles, the challenges of information warfare, neuropsychological reactions, and resilience mechanisms, the research casts light on the complex interplay of psychological factors that shape Ukrainians’ perception of terrorist threats. Drawing from a diverse participant pool, the study identifies four major factors: “Comprehensive Threat Response and Socio-Psychological Terror Impact,” “Eco-Social Strain Perception and Cultural Identity and Societal Concerns,” “Physical and Societal Vulnerability and Intrinsic Fears and Moral Evolution,” and “Interpersonal Strains and Behavioral Indicators.” These elements offer an intricate understanding of how terrorist threats are perceived at both individual and societal levels. The findings underscore the importance of interdisciplinary and holistic approaches in comprehending and navigating the nuances of perceived threats amidst geopolitical unrest.
The Bureaucratic Waiting Tolls: Social Consequences of Uncertain and Prolonged Waiting in U.S. Lawful Permanent Residence Processing
Authors: Dromgold-Sermen Michelle S.
Published: December 2023

This study expands existing sociological and immigration scholarship on waiting, governmentality, and U.S. immigration bureaucracies by introducing the concept of the bureaucratic waiting tolls. Research has identified costs of uncertainty and waiting within the enforcement, judicial, and legislative arms of federal immigration bureaucracies, particularly for vulnerable migrant groups. The consequences of prolonged waiting in U.S. federal immigration bureaucracies’ service branches are less well understood. I examine the consequences of waiting for an adjustment of legal status to lawful permanent residence (LPR) within the United States Citizenship and Immigration Services (USCIS) bureaucracy among temporary nonimmigrants in the United States on visas. While the outcome of waiting for an adjustment of status—receiving a green card—is typically framed as success, I question whether the process of waiting is also one that primes migrants for success. Drawing on qualitative textual analysis of posts on an online immigration forum between 2007 and 2021, I identify multifaceted tolls of waiting in the USCIS bureaucracy. Updates from USCIS toll unexpectedly and disrupt everyday lives, financial tolls and opportunity costs—particularly in employment—directly impact life trajectories, and waiting introduces every day and longer-term damage that marginalizes this immigrant group. Exacerbated by uncertain and prolonged bureaucratic waiting, these tolls are consequential for migrant well-being. I conclude with policy suggestions to reform existing immigration caps to reduce long wait times and thereby alleviate the consequences of waiting and strengthen integration pathways throughout and following the LPR process.
Im/migrant Well-Being Part I: The Impact of Immigration Laws and Enforcement Measures
Authors: Aranda Elizabeth
Published: December 2023

This article introduces the first volume of a two-part series on im/migrant well-being. Stemming from the conference, Im/migrant Well-Being: A Nexus for Research & Policy, the author discusses the importance of studying im/migrant well-being, and why focusing on immigration policies and enforcement measures is of critical importance if scholars are interested in understanding the social factors that shape well-being among im/migrant populations. A brief review of the articles in this special issue is provided as the author argues for the importance of publicly engaged research that can provide policy-oriented solutions to the public and change-makers.
The National Resident Matching Program: An Outdated Business Model Due for Reform
Authors: Nasef Hazem , Awan Muhammad Usman , Hernandez Nickolas , Cruz Francis , Havron Will , Elkbuli Adel
Published: December 2023

Introduction

This study aims to examine the trends across the entire NRMP application cycles from 2007-2008 to 2022-2023, specifically exploring trends across competitive surgical specialties to assess the efficacy of the existing NRMP business model and provide evidence-based recommendations to better address the current needs of both applicants and programs.

Methods

A cross-sectional study exploring the trends in the mean number of applicants and mean number of total ranked positions per applicant across surgical, the top 5 most competitive surgical specialties, and non-surgical specialties from 2007-2008 to the 2022-2023 match cycles utilizing data from the NRMP database.

Results

Over the studied 16 match cycles, the mean number of applicants to surgical specialties has increased by 47.99% and the mean number of total ranked positions per applicant has increased by 88.07%. For the top 5 most competitive specialties, the mean number of applicants has increased by 57.66% and the mean number of total ranked positions per applicant has increased by 83.33%.

Conclusion

Trends across the 16 most recent NRMP cycles show evidence of increased congestion in the match system, the burden of which is primarily placed on applicants. Our findings support the need for drastic reform in the NRMP to relieve this burden, and we discuss practical solutions to allow the NRMP to better meet the needs of applicants and residency programs alike.
Cochlear Implantation in Children With a Long Average Duration of Single Sided Deafness
Authors: Colasacco Christine J. , Morgan Samantha , Bornstein Rivka , Drugge Elizabeth , Stidham Katrina R.
Published: December 2023

Objectives:

Previous research has shown the positive effects of cochlear implantation in children with a short duration of single sided deafness (SSD). This case series assessed the impact of cochlear implantation in a cohort of children with a longer average duration of SSD.

Methods:

A retrospective chart review of 6 children who received a cochlear implant for SSD. The mean age at time of cochlear implantation was 14.7 years old (median = 15.5, interquartile range (IQR) = 2.5) and mean duration of hearing loss before cochlear implantation was 10.8 years (median = 11.5, IQR = 5.3). Pre- and post-operative audiometric data for aided speech perception testing, sentence recognition in quiet, sentence recognition in noise, and word recognition scores were analyzed.

Results:

When compared to preoperative hearing aid scores a 24% significant increase in median word score and a 64% significant increase in median sentence recognition score in quiet was observed at 12 months post-op.

Conclusion:

Cochlear implantation in children with a longer duration of SSD can provide benefit to speech recognition.

Lay Summary:

This retrospective case series of children with prolonged single sided deafness demonstrated an improvement in word and sentence recognition within 12 months of receiving a cochlear implant.
Ideological and Experiential Predictors of Asian Americans’ Attitudes Towards Black Americans
Authors: Yoon Eunju , Chang Yea Jin (Jeanie) , Cheng Yiyu , Brown Eric M.
Published: December 2023

Drawing on the theories of Kim’s racial triangulation and Allport’s intergroup contact, this study examined ideological and experiential predictors of Asian Americans’ interracial attitudes and solidarity with Black Americans. In a community sample of 249 Asian Americans, hierarchical multiple regression analyses revealed that the ideological variables of internalized racism and model minority myth were associated with greater anti-Black attitudes. Internalized model minority myth of unrestricted mobility was also related to reduced intergroup solidarity. Conversely, the experiential variables of close and general contact with Black Americans were respectively related to greater pro-Black attitudes and intergroup solidarity. Additionally, higher quality of general contact buffered the negative association between internalized model minority myth and intergroup solidarity. The findings highlight the importance of deconstructing internalized racial beliefs rooted in White supremacy and cultivating quality intergroup contact between Black and Asian Americans. Implications for practice, community intervention, training, and research are discussed.
Decision-making in Choosing an Effective Celebrity Endorsement Strategy Using Fuzzy Forgotten Effects: A Cross-cultural Study
Authors: Patel Karan , Arroyo-Cañada Francicso-Javier , Gil-Lafuente Jaime
Published: December 2023

The main purpose of this study is to develop models that illustrate the impact of celebrity endorsement on consumer purchase intention, taking into consideration the important dimension of culture: individualism (Spain) versus collectivism (India). The study utilises the analytical model of the fuzzy forgotten effects theory to build a model for decision-making in choosing an effective parameter that affects consumer purchase intentions with respect to celebrity endorsement across two distinct cultures. These models provide insights into the impact of celebrity endorsement over time and across different stages of the consumer decision-making process. The contributions of this research will help marketers to select appropriate celebrity parameters for celebrity endorsements across varied cultures, which would be fruitful for the brand in the long term. This research will also draft a framework for branding managers that can be adopted by companies to increase profitability. This paper applies the theory of forgotten effects with the analysis of cause and effect in the field of marketing. The main contribution of this article is that it allows the second-generation effects to be considered during the decision-making process, which could go unnoticed by decision-makers at first, thereby reducing the risks associated with decision-making.

JEL Codes: M31, C02
Demand for Maternal Health Inputs in Eastern States of India
Authors: Roy Ramananda , Bhattacharyya Bhaskar , Mandal Biswajit
Published: December 2023

Using NFHS-4 data, this study explores the determinants of maternal health care programmes for eastern states of India, which include prenatal care and hospital delivery. To reduce unobserved heterogeneity in the analysis, we employed the Full Information Likelihood Method, also known as the Joint Estimation Technique, in conjunction with individual probit models. Like other studies, we found place of residence, wealth, caste, religion and level of education as significant contributor for demand for both services. But, unlike earlier studies, we found that women’s age increases the use of prenatal care and hospital delivery, and the child’s birth order influences getting prenatal care. To increase the utilisation of maternal health care services, we recommend investing in health infrastructure, increasing the Janani Suraksha Yojana (JSY) subsidy amount and coverage of the Janani Shishu Suraksha Karyakram (JSSK) scheme, and promoting awareness about various government programmes among women through the Accredited Social Health Activists (ASHAs).

JEL Codes: I140, I150, I180, O150
E-public Service Delivery as an Innovative Paradigm-shift in Indian Governance System: An Analysis of Haryana State Model
Authors: Kundu Rajesh Kumar
Published: December 2023

A paradigm shift in the governance process is being observed because the Central and state governments have started working on Citizen’s Charters to deliver services within a time-frame. Information Communication Technology is playing a great role in fulfilling the service-delivery timelines according to the provisions of Right to Services Act, 2014. The Haryana government has come up with an innovative thesis for the SARAL platform ( Simple All-inclusive Real-time Action-oriented and Long-lasting), which intends to simplify and transform public-service delivery system. The objective of this article is to provide a platform for academic discourse by comparing the different public service delivery arrangements as citizens’ rights with the e-service delivery model of Haryana. The author analyses the e-services delivery process, grievances-redressal mechanisms, operational arrangements, working procedure of e-service delivery platform, e-seva scheme for Common Service Centres as prescribed in the Right to Services Act and e-service delivery model of Haryana.
Wages, Inequality and Work Standards in Construction Sector: A Case Study of Inter-state Migrant Workers and Native Workers in Kerala
Authors: Sreedevi R.S.  , Gopinath P.
Published: December 2023

The state of Kerala is experiencing an influx in migration from the northern states of the country for the past decades. In order to study the present migration trend, the article attempts to analyse the wages, employment and working patterns of inter-state migrant workers. The article also compares the condition of inter-state migrant workers to that of the native workers. This study looks at the types of work that migrant workers are engaged in. It examines the inequality faced by the migrant population compared to the native workers. The study also puts forward how it is important to bring a decent work standard for inter-state migrant workers so that it can reduce the inequality and discrimination faced by them.
Public Value-creation Through Application of Artificial Intelligence (AI) in COVID-19 Management: Policy Lessons from India
Authors: Katekar Vishal , Cheruku Jeevan Kumar
Published: December 2023

The COVID-19 pandemic had posed significant challenges for public health systems worldwide. Countries had been experimenting with innovative solutions to address the crisis. Artificial Intelligence (AI) has emerged as a promising technology in this regard, with its potential to improve disease detection, contact tracing, and vaccine distribution. The Government of India had administered more than 1,000 million vaccines in a short period since the outbreak of COVID-19, that is, in March 2020. The government harnessed the potential of AI for providing services to citizens during this uncertain time. This article aims to explore the potential of AI in creating public value in the context of COVID-19 management in India. The analysis is based on primary and secondary sources such as research articles, reports published by government and non-government organisations, online databases, and discussion papers. The findings of the study suggest that AI played a critical role in enhancing the effectiveness of COVID-19 management in India. The application of AI has led to significant improvements in disease surveillance, diagnosis, and treatment, thereby creating public value. The study highlights that the assimilation of AI-enabled services increases the citizens’ participation and overall satisfaction and enhances public trust in the government initiatives. The study recommends for a supportive policy environment which fosters innovation and collaboration between stakeholders in leveraging AI. The study also highlights the need for a robust regulatory framework which ensures data privacy and security.
Response to Intervention and Specific Learning Disability Identification: Evidence From Tennessee
Authors: Gilmour Allison F. , Harper Justin , Lloyd Blair , Van Camp Alyssa
Published: December 2023

Response to intervention (RTI) is a method for providing academic support to students and for identifying specific learning disabilities (SLDs). Using interrupted time series and hazard models, we examined if statewide RTI adoption in the U.S. state of Tennessee was associated with changes in rates of SLD and first-time SLD identification in elementary schools, and if these associations varied across student groups. Response to intervention was associated with an initial decline in the percentage of students with SLD in the state that continued over time, with larger decreases for students who were Black or economically disadvantaged. Response to intervention was associated with a 61% average decrease in the odds of first-time SLD identification by third grade (about a 0.006 change in the predicted probability), with greater declines for students who were Black or economically disadvantaged. We discuss these results in the context of disproportionality in special education and the need for research examining whether declines in SLD were due to improved academic outcomes, as opposed to delays in identification.