Article
Genetics & Heredity
Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick
Summary: Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A, characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures, and typical facial features. Intracranial anomalies are infrequent, with a report describing a rare case with holoprosencephaly.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
D. Nonkulovski, A. Sofijanova, T. Spasovska, Milanovski Gorjan, L. J. Muaremoska-Kanzoska, T. Arsov
Summary: Holoprosencephaly (HPE) is a common developmental anomaly of the embryonic forebrain. This case report highlights a 7-month-old female infant with non-syndromic semilobar holoprosencephaly caused by a novel pathogenic variant in the ZIC2 gene. The patient exhibited microcephaly, mild facial dysmorphic features, central hypotonia, and spasticity. Early diagnosis and management are crucial to prevent and treat complications associated with HPE.
BALKAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Medicine, General & Internal
Birsen Karaman, Selvi Ergin, Hulya Kayserili, Atil Yuksel, Nihan Bilge Satkin, Ibrahim Halil Kalelioglu, Recep Has, Seher Basaran
Summary: Holoprosencephaly (HPE) is a common developmental defect in the human forebrain with diverse etiological factors, including chromosome abnormalities and single gene mutations. This study analyzed 127 prenatal HPE samples and found that 50.39% had chromosome aberrations, predominantly trisomy 13. Cytogenetic and molecular cytogenetic studies are recommended for suspected HPE cases to identify potential genetic causes.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
(2021)
Review
Education & Educational Research
Jihyun Lee, Solmoe Ahn, Marcus A. Henning, J. M. Monica van de Ridder, Vijay Rajput
Summary: Micromanagement in clinical supervision refers to excessive control and attention to detail, which can negatively impact learners, teamwork, and patient care. This scoping review aimed to explore the existing literature on micromanagement in health professions education and identified 12 articles that examined this phenomenon. Micromanagement was characterized by ineffective supervisory practices, and alternatives included granting autonomy and providing effective supervision. The consequences of micromanagement included inadequacies in professional development, well-being of learners, and patient care, suggesting a need for more research and discourse in this area.
BMC MEDICAL EDUCATION
(2023)
Article
Education & Educational Research
Malou Stoffels, Stephanie M. E. van der Burgt, Larike H. Bronkhorst, Hester E. M. Daelmans, Saskia M. Peerdeman, Rashmi A. Kusurkar
Summary: Adapting to new environments is crucial in health professions education. This study investigates how nursing students learn from boundary experiences while becoming a community of practice. The findings show that students experience discontinuity due to different approaches to nursing care and learning. When students feel safe, they can convert boundary experiences into meaningful learning situations and improve their understanding of healthcare and professional development.
ADVANCES IN HEALTH SCIENCES EDUCATION
(2022)
Article
Computer Science, Information Systems
Zhongping Cao, Wen Ding, Rihui Chen, Jianxiong Zhang, Xuemei Guo, Guoli Wang
Summary: This article proposes a two-branch learning model for human pose estimation using millimeter wave radar. The model addresses the ill-posed problems in HPE caused by destructive observations with superimposed reflection signals. The global branch reconstructs coarse pose estimation from superimposed signals of the whole human body, while the local branch refines pose estimations with decomposed signals from individual body parts. This two-branch learning architecture incorporates local motion constraints from individual body parts into the global estimation, resulting in plausible and accurate pose estimations.
IEEE INTERNET OF THINGS JOURNAL
(2023)
Article
Engineering, Electrical & Electronic
Viviana Crescitelli, Atsutake Kosuge, Takashi Oshima
Summary: POISON is an end-to-end deep neural network method for estimating human pose, which combines RGB and infrared image information to improve detection accuracy. It outperforms conventional methods by 1.79 times, especially excelling in low-light conditions.
IEEE TRANSACTIONS ON INSTRUMENTATION AND MEASUREMENT
(2021)
Review
Biochemistry & Molecular Biology
Christine K. C. Loo, Michael A. Pearen, Grant A. Ramm
Summary: The Hedgehog (HH) signalling pathway is crucial in controlling cell differentiation and proliferation during human development. The Sonic Hedgehog (SHH) pathway is complex and influenced by various factors, leading to different outcomes even with the same genetic mutations. The understanding of SHH signalling in human development can be further enhanced through studying specific examples and exploring the implications of SHH mutations in different disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Surgery
Sara Vertaldi, Pietro Anoldo, Grazia Cantore, Alessia Chini, Anna D'Amore, Maria D'Armiento, Nicola Gennarelli, Francesco Maione, Michele Manigrasso, Alessandra Marello, Pietro Schettino, Carmen Sorrentino, Loredana M. Sosa Fernandez, Giovanni D. De Palma, Marco Milone
Summary: The aim of this study was to evaluate whether histopathological examination of the pilonidal sinus excision material can be successfully performed after an endoscopic ablation of the cyst. The findings showed that minimally invasive ablation of pilonidal sinus does not preclude histopathological examination of the cysts, and no evidence of malignancy was found.
FRONTIERS IN SURGERY
(2022)
Review
Pediatrics
Maisa Malta, Rowim AlMutiri, Christine Saint Martin, Myriam Srour
Summary: Holoprosencephaly (HPE) is a common malformation of the prosencephalon, characterized by a continuum of brain anomalies caused by midline cleavage failure. The severity of HPE phenotype ranges widely and correlates with radiologic and facial features. Both environmental and genetic factors contribute to the etiology of HPE, with disruption of the SHH signaling pathway being the main pathophysiological mechanism.
Article
Education & Educational Research
Wayne Smith, Alan Ovens, Rod Philpot
Summary: This paper discusses the development of a new movement education resource called 'Movewell' in Aotearoa New Zealand, which aims to change teachers' perspectives on movement education purposes and pedagogies. The resource focuses on learning through games in inclusive environments, aiming to help children develop physical skills and a positive sense of self, belonging, and community. The resource is based on contemporary skill learning theory and emphasizes the importance of well-structured game experiences appropriate to learners' interests and capabilities.
PHYSICAL EDUCATION AND SPORT PEDAGOGY
(2021)
Article
Biochemistry & Molecular Biology
Marika Mroz, Edyta Malinowska-Panczyk, Agnieszka Bartoszek, Barbara Kusznierewicz
Summary: A comparative study on the phytochemical profiles of Sideritis raeseri and Sideritis scardica extracts was conducted, revealing that extractions assisted by microwaves, ultrasounds, and high pressure improved the overall recovery of metabolites by about 3 times compared to the conventional extraction method. Furthermore, 70% ethanol was found to be the most effective solvent for extracting different classes of phytochemicals, including antioxidants.
Article
Genetics & Heredity
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M. Alhashem, Steve Lisgo, Alberto Fernandez-Jaen, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F. Smithson, Susan Lindsay, Hayley J. Sharpe, Fowzan S. Alkuraya, Geoff Woods
Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.
JOURNAL OF MEDICAL GENETICS
(2022)
Review
Cell Biology
Hsiao-Fan Lo, Mingi Hong, Robert S. Krauss
Summary: Many common developmental disorders are believed to be caused by a combination of genetic and environmental risk factors, which interact to affect key developmental signaling pathways and potentially lead to abnormal embryonic patterning. Holoprosencephaly (HPE) serves as a model system for understanding multifactorial etiology, with studies showing various ways in which risk factors interact to produce adverse developmental outcomes. This includes interactions between genes, oligogenic inheritance, interactions between genetic susceptibilities and environmental factors, and interactions between genetic and non-genetic risk factors. These concepts are applicable not only to HPE but also to other disorders with complex origins.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Engineering, Electrical & Electronic
Yu Zhao, Shang Xiang, Jiaqi Han, Long Li
Summary: The hierarchical pattern exploitation (HPE) method is proposed for efficient electromagnetic analysis of finite periodic arrays. HPE accelerates the matrix assembly and reduces storage space by partitioning the array hierarchically and taking advantage of repeating patterns. Numerical examples demonstrate that HPE outperforms classical methods in terms of storage and CPU time, and it also shows competitive performance compared to other commonly used algorithms.
IEEE TRANSACTIONS ON ANTENNAS AND PROPAGATION
(2022)
Correction
Genetics & Heredity
Erin Rooney Riggs, Erica F. Andersen, Athena M. Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I. Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda-Alvarez, Swaroop Aradhya, Christa Lese Martin
Summary: A correction to the paper has been published.
GENETICS IN MEDICINE
(2021)
Article
Psychology, Developmental
Martha L. Cervantes-Henriquez, Johan E. Acosta-Lopez, Ariel F. Martinez, Mauricio Arcos-Burgos, Pedro J. Puentes-Rozo, Jorge I. Velez
Summary: The study found that genes DRD4, SNAP25, and ADGRL3 are associated with ADHD severity and can be used to predict different domains of severe and non-severe ADHD symptoms.
JOURNAL OF ATTENTION DISORDERS
(2022)
Article
Medicine, General & Internal
Jorge I. Velez, Luiggi A. Samper, Mauricio Arcos-Holzinger, Lady G. Espinosa, Mario A. Isaza-Ruget, Francisco Lopera, Mauricio Arcos-Burgos
Summary: This study evaluated the performance of machine learning algorithms for predicting Alzheimer's disease age of onset (ADAOO) in two cohorts. Boosting-based ML algorithms showed the best performance for predicting ADAOO in familial AD, while regularization methods performed best for unseen data in sporadic AD. Machine learning algorithms offer a feasible alternative for accurately predicting ADAOO with little human intervention, and may also be useful for predicting the speed of cognitive decline in cohorts.
Article
Mathematical & Computational Biology
Sebastian Racedo, Ivan Portnoy, Jorge Velez, Homero San-Juan-Vergara, Marco Sanjuan, Eduardo Zurek
Summary: This study introduces a novel approach for the classification of new samples into two groups with different biological settings using compositional data. The results demonstrate that the proposed method achieves classification accuracy of 98% or greater with synthetic data and outperforms other classification methods when applied to real gene sequencing datasets.
Article
Neurosciences
Martha L. Cervantes-Henriquez, Johan E. Acosta-Lopez, Mostapha Ahmad, Manuel Sanchez-Rojas, Giomar Jimenez-Figueroa, Wilmar Pineda-Alhucema, Martha L. Martinez-Banfi, Luz M. Noguera-Machacon, Elsy Mejia-Segura, Moises De La Hoz, Mauricio Arcos-Holzinger, David A. Pineda, Pedro J. Puentes-Rozo, Mauricio Arcos-Burgos, Jorge Velez
Summary: ADHD is a highly heritable neurobehavioral disorder affecting children worldwide and individuals affected struggle with visual-motor and visuospatial abilities, potentially contributing to impulsive responses. Endophenotypes may provide a more powerful framework for understanding the neurobiology of ADHD, with this study highlighting the combination of working memory and perceptual organization deficits in ADHD patients.
Article
Neurosciences
Martha Martinez-Banfi, Jorge Velez, Moises R. Mebarak Chams, Mauricio Arcos-Holzinger, Johan E. Acosta-Lopez, Ricardo Garcia, Maria Victoria Perea, Mauricio Arcos-Burgos, Valentina Ladera
Summary: The study evaluated the performance of a short protocol for detecting HIV-associated neurocognitive disorders (HAND), showing promising results in a Caribbean community. Community-specific cut-off values for HAND diagnosis may improve screening accuracy and patient treatment.
Review
Biochemistry & Molecular Biology
Maria Mosquera-Heredia, Luis C. Morales, Oscar M. Vidal, Ernesto Barcelo, Carlos Silvera-Redondo, Jorge Velez, Pilar Garavito-Galofre
Summary: Exosomes are extracellular vesicles released by cells and play a role in the pathogenesis of various diseases, making them potential biomarkers for disease detection, prognosis, and treatment. Research has advanced our understanding of the regulatory mechanisms of exosome biogenesis, release, molecular composition, and their potential as disease biomarkers and therapeutic targets.
Article
Genetics & Heredity
Dan Morgenstern-Kaplan, Jaime Raijman-Policar, Sore Majzner-Aronovich, Swaroop Aradhya, Daniel E. Pineda-Alvarez, Monica Aguinaga, Edna Elisa Garcia-Vences
Summary: This study aimed to determine the heterozygote frequency of disease-causing variants in the Mexican Jewish community (MJC). The results showed that 72.1% of participants carried at least one severe disease-causing variant in the analyzed genes. The most common genes with severe disease-causing variants were CFTR, MEFV, WNT10A, and GBA. Comparison with the Genome Aggregation Database (gnomAD) revealed statistically significant differences in variant frequencies. Additionally, 6% of couples were at risk of having a child with a severe disorder. The study highlights the importance of using carrier screening in the MJC and other understudied populations to facilitate informed decision-making for parents.
GENETICS IN MEDICINE
(2022)
Review
Engineering, Civil
Carlos M. Ferreira-Vanegas, Jorge Velez, Guisselle A. Garcia-Llinas
Summary: In this systematic literature review, a series of quantitative bibliometric analyses were used to identify the main papers, journals, and authors in the field of statistical analysis and machine learning tools for predicting road traffic accidents. The analysis revealed that while the negative binomial regression method has been widely used, alternative methods such as deep learning and convolutional neural networks have recently emerged. The review also highlights the importance of computational algorithms and data visualization in the analysis of road traffic accidents.
JOURNAL OF ADVANCED TRANSPORTATION
(2022)
Article
Multidisciplinary Sciences
Oscar M. Vidal, Jorge I. Velez, Mauricio Arcos-Burgos
Summary: Attention deficit/hyperactivity disorder (ADHD) is a common childhood neurodevelopmental disorder. This study examined the impact of non-synonymous SNPs in the ADGRL3 gene on ADHD development. The findings suggest that these mutations disrupt the normal structure of ADGRL3 and may affect its metabolic regulation, potentially linking ADHD to the pathogenesis of diabetes mellitus.
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Brandie Heald, Sara Pirzadeh-Miller, Rachel E. Ellsworth, Sarah M. Nielsen, Emily M. Russell, Peter Beitsch, Edward D. Esplin, Robert L. Nussbaum, Daniel E. Pineda-Alvarez, Allison W. Kurian, Heather Hampel
Summary: Current guidelines recommend single variant testing in relatives of cancer patients with known pathogenic or likely pathogenic germline variants. However, this approach may result in missed risk-reducing strategies in family members with pathogenic or likely pathogenic variants in other cancer predisposition genes. Cascade testing using multigene panels identified unexpected pathogenic or likely pathogenic germline variants in 6.2% of relatives, including those who were negative for the familial variant but positive for a variant in a different gene, as well as those who tested positive for the familial variant and had an additional variant in a different gene.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Biochemistry & Molecular Biology
Mostapha Ahmad, Margarita R. Rios-Anillo, Johan E. Acosta-Lopez, Martha L. Cervantes-Henriquez, Martha Martinez-Banfi, Wilmar Pineda-Alhucema, Pedro Puentes-Rozo, Cristian Sanchez-Barros, Andres Pinzon, Hardip R. Patel, Jorge I. Velez, Jose Luis Villarreal-Camacho, David A. Pineda, Mauricio Arcos-Burgos, Manuel Sanchez-Rojas
Summary: This study analyzed the genetic and molecular features of 291 participants, including 33 with Huntington's disease (HD). The study found that mosaicism increased with age, particularly for the secondary allele, in HD participants. The most common haplotype observed was 17/7_17/10.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Computer Science, Information Systems
Jose L. Lopez-Prado, Jorge W. Gonzalez-Sanchez, Jorge Velez, Guisselle A. Garcia-Llinas
Summary: This study evaluates the impact of integrating microgrids on the reliability of rural distribution systems and proposes an interactive method to calculate different reliability indices. The results show that introducing properly sized hybrid microgrids can successfully achieve reliability objectives.
Meeting Abstract
Oncology
Sarah M. Nielsen, Eden V. Haverfield, Kathryn E. Hatchell, Sienna Aguilar, Nhu Ngo, Kingshuk Das, Scott Michalski, Daniel Pineda-Alvarez, Ed E. Esplin, Robert L. Nussbaum
ANNALS OF SURGICAL ONCOLOGY
(2021)
Meeting Abstract
Endocrinology & Metabolism
Erin Riggs, Molly Good, Erica Andersen, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Erik Thorland, Daniel Pineda-Alvarez, Swaroop Aradhya, Christa Martin
MOLECULAR GENETICS AND METABOLISM
(2021)
