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Clinical Exome Sequencing Uncovers Genetic Disorders In Neonates With Suspected Hypoxic-Ischemic Encephalopathy: A Retrospective Analysis, Brian A Burnett, Elizabeth Mizerik, Jill A Rosenfeld, Liesbeth Vossaert, Steven L Clark, Jill V Hunter, Seema R Lalani Jul 2024

Clinical Exome Sequencing Uncovers Genetic Disorders In Neonates With Suspected Hypoxic-Ischemic Encephalopathy: A Retrospective Analysis, Brian A Burnett, Elizabeth Mizerik, Jill A Rosenfeld, Liesbeth Vossaert, Steven L Clark, Jill V Hunter, Seema R Lalani

Faculty, Staff and Students Publications

Hypoxic-ischemic encephalopathy (HIE) occurs in up to 7 out of 1000 births and accounts for almost a quarter of neonatal deaths worldwide. Despite the name, many newborns with HIE have little evidence of perinatal hypoxia. We hypothesized that some infants with HIE have genetic disorders that resemble encephalopathy. We reviewed genetic results for newborns with HIE undergoing exome or genome sequencing at a clinical laboratory (2014-2022). Neonates were included if they had a diagnosis of HIE and were delivered ≥35 weeks. Neonates were excluded for cardiopulmonary pathology resulting in hypoxemia or if neuroimaging suggested postnatal hypoxic-ischemic injury. Of 24 patients …


Practical Tips For Paediatricians: Precordial Catch Syndrome Jul 2024

Practical Tips For Paediatricians: Precordial Catch Syndrome

Faculty, Staff and Students Publications

No abstract provided.


Consensus Guidelines For The Monitoring And Management Of Metachromatic Leukodystrophy In The United States, Eric Mallack, Rebecca Ahrens-Nicklas, John A Bernat, Annette Bley, Barbara Burton, Alejandra Darling, Florian Eichler, Erik Eklund, Lisa Emrick, Maria Escolar, Ali Fatemi, Jamie L Fraser, Amy Gaviglio, Stephanie Keller, Marc C Patterson, Paul Orchard, Jennifer Orthmann-Murphy, Jonathan D Santoro, Ludger Schöls, Caroline Sevin, Isha N Srivastava, Deepa Rajan, Jennifer P Rubin, Keith Van Haren, Melissa Wasserstein, Ayelet Zerem, Francesca Fumagalli, Lucia Laugwitz, Adeline Vanderver Jul 2024

Consensus Guidelines For The Monitoring And Management Of Metachromatic Leukodystrophy In The United States, Eric Mallack, Rebecca Ahrens-Nicklas, John A Bernat, Annette Bley, Barbara Burton, Alejandra Darling, Florian Eichler, Erik Eklund, Lisa Emrick, Maria Escolar, Ali Fatemi, Jamie L Fraser, Amy Gaviglio, Stephanie Keller, Marc C Patterson, Paul Orchard, Jennifer Orthmann-Murphy, Jonathan D Santoro, Ludger Schöls, Caroline Sevin, Isha N Srivastava, Deepa Rajan, Jennifer P Rubin, Keith Van Haren, Melissa Wasserstein, Ayelet Zerem, Francesca Fumagalli, Lucia Laugwitz, Adeline Vanderver

Faculty, Staff and Students Publications

Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease-specific guidelines based on healthcare resources in the United States. This group developed a consensus opinion for best-practice recommendations, as follows: (i) Diagnosis should include both genetic and biochemical testing; (ii) …


Artificial Intelligence To Classify Acquired Intestinal Injury In Preterm Neonates-A New Perspective Jul 2024

Artificial Intelligence To Classify Acquired Intestinal Injury In Preterm Neonates-A New Perspective

Faculty, Staff and Students Publications

No abstract provided.


Gene Expression Networks Regulated By Human Personality, Pashupati P Mishra, Alberto Mesa, Ramiro Salas, Guillermo F Poblete, Gabriel De Erausquin, Emma Raitoharju, Mika Kähönen, Olli Raitakari, Liisa Keltikangas-Järvinen, Terho Lehtimäki, Claude Robert Cloninger Jul 2024

Gene Expression Networks Regulated By Human Personality, Pashupati P Mishra, Alberto Mesa, Ramiro Salas, Guillermo F Poblete, Gabriel De Erausquin, Emma Raitoharju, Mika Kähönen, Olli Raitakari, Liisa Keltikangas-Järvinen, Terho Lehtimäki, Claude Robert Cloninger

Faculty, Staff and Students Publications

Genome-wide association studies of human personality have been carried out, but transcription of the whole genome has not been studied in relation to personality in humans. We collected genome-wide expression profiles of adults to characterize the regulation of expression and function in genes related to human personality. We devised an innovative multi-omic approach to network analysis to identify the key control elements and interactions in multi-modular networks. We identified sets of transcribed genes that were co-expressed in specific brain regions with genes known to be associated with personality. Then we identified the minimum networks for the co-localized genes using bioinformatic …


Should The Incretin Hype Be The Same For Older Adults: Promise + Cautions Jul 2024

Should The Incretin Hype Be The Same For Older Adults: Promise + Cautions

Faculty, Staff and Students Publications

No abstract provided.


Is It Time To Retire The Term ‘Bloodstream Infection’? (Submitted As Letter To The Editor) Jul 2024

Is It Time To Retire The Term ‘Bloodstream Infection’? (Submitted As Letter To The Editor)

Faculty, Staff and Students Publications

No abstract provided.


Utility Of Cystatin C-Based Equation For The Estimation Of Glomerular Filtration Rate In A Pediatric Population, Sridevi Devaraj Jul 2024

Utility Of Cystatin C-Based Equation For The Estimation Of Glomerular Filtration Rate In A Pediatric Population, Sridevi Devaraj

Faculty, Staff and Students Publications

Background: The accurate assessment of kidney function is vital for the early detection of kidney damage. The estimated glomerular filtration rate GFR (eGFR) from serum cystatin C (CysC) and creatinine-based equations are commonly used in clinical practice as an alternative to the invasive measured glomerular filtration rate (mGFR), which is the usually accepted overall best index of kidney function in health and disease. Recently the CKiD under 25 (CkiD U25) equations have been shown to perform well in children and young adults with chronic kidney disease (CKD). In this focused report, we evaluated the performance of the CkiD U25 equations …


Progressive Thrombocytopenia, Splenomegaly, And Abnormal Tone In An Infant With Growth Faltering, Venée N Tubman, Ameya S Walimbe, Rathi Asaithambi Jul 2024

Progressive Thrombocytopenia, Splenomegaly, And Abnormal Tone In An Infant With Growth Faltering, Venée N Tubman, Ameya S Walimbe, Rathi Asaithambi

Faculty, Staff and Students Publications

A 4-month-old full-term female presented with growth faltering associated with progressive feeding difficulty, rash, abdominal distension, and developmental delays. She was found to have disconjugate gaze, abnormal visual tracking, mixed tone, bruising, and splenomegaly on examination. Initial workup was notable for thrombocytopenia and positive cytomegalovirus (CMV) immunoglobulin G and immunoglobulin M antibodies. She initially presented to the infectious diseases CMV clinic, where she was noted to have severe malnutrition, prompting referral to the emergency department for hospital admission to optimize nutrition with nasogastric tube feeding and facilitate additional evaluation. An active CMV infection with viruria and viremia was confirmed, but …


Optimizing Sexual Reproductive Health Of Men And Women With Cystic Fibrosis: A Systematic Review, Mohit Khera Jul 2024

Optimizing Sexual Reproductive Health Of Men And Women With Cystic Fibrosis: A Systematic Review, Mohit Khera

Faculty, Staff and Students Publications

This systematic review summarizes the impact of cystic fibrosis (CF) on sexual and reproductive health (SRH) in males and females, covering pubertal development, hormonal function, family planning, and fertility. Included articles featured historical CF diagnostic criteria, preclinical or clinical data (retrospective cohorts or open label trials), while excluded articles lacked full text availability, explicit methodology, or comparisons between CF and non-CF patients. Genotype differences in CFTR mutations influenced symptom severity. Males with CF experienced delayed puberty, hypogonadism, infertility from obstructive azoospermia, and semen parameter issues. Female CF patients showed decreased fertility, possibly linked to disrupted ionic balance and ovarian cystic …


Obsessive-Compulsive Disorder In Children And Adolescents, Katie H Mangen, Molly J Church, Wayne K Goodman, Eric A Storch Jul 2024

Obsessive-Compulsive Disorder In Children And Adolescents, Katie H Mangen, Molly J Church, Wayne K Goodman, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) in children and adolescents is a neurobehavioral condition that can lead to functional impairment in multiple domains and decreased quality of life. We review the clinical presentation, diagnostic considerations, and common comorbidities of pediatric OCD. An overview of the biological and psychological models of OCD is provided along with a discussion of developmental considerations in youth. We also describe evidence-based treatments for OCD in childhood and adolescence, including cognitive behavioral therapy (CBT) with exposure and response prevention (ERP) and pharmacotherapy. Finally, research evaluating the delivery of CBT in different formats and modalities is discussed, and we conclude …


Strategi Penggunaan Content Marketing Pada Pengguna Tiktok Dan Instagram Berdasarkan Audience Behaviour Di Perusahaan X, Khairunnisa -, Hasyim Asyari Jun 2024

Strategi Penggunaan Content Marketing Pada Pengguna Tiktok Dan Instagram Berdasarkan Audience Behaviour Di Perusahaan X, Khairunnisa -, Hasyim Asyari

Jurnal Vokasi Indonesia

This study aims to examine the differences in TikTok and Instagram user behavior, useful for marketing strategy planning, consumer behavior research, and content creation suitable for TikTok and Instagram platforms in the Company X account. The results of this study are expected to make a positive contribution to the understanding of the role of social media and how differences in user behavior can shape further transformation in the evolving digital ecosystem. This research uses a quantitative descriptive method that compares two advertising contents uploaded on Tik Tok social media and Instagram social media. The objects contained in this study include …


Tular Nalar Curriculum To Promote A Culture Of Critical Thinking Among The Elderly, Santi Indra Astuti, Niken Satyawati, Dwitasari Teteki Bernadeta Jun 2024

Tular Nalar Curriculum To Promote A Culture Of Critical Thinking Among The Elderly, Santi Indra Astuti, Niken Satyawati, Dwitasari Teteki Bernadeta

Jurnal Vokasi Indonesia

In the digital age, fostering a culture of critical thinking is imperative for all societal groups, including the elderly. However, no sufficient effort does appear to resolve the lack of critical thinking among elderly. Facing with this challenge, Tular Nalar program developed unique curriculum which specifically cultivate critical thinking skills among elderly. The designed curriculum become the backbone of capacity buildings which targeted elderly in 38 provinces of Indonesia. This curriculum is accessible to everyone, designed to enhance critical thinking abilities, and enabling individuals, especially the elderly, to identify, analyze, and make rational decisions in filtering information. The paper presented …


Optimalisasi Penggunaan Energi Matahari Dalam Produk Photovoltaic Pada Era Ekonomi Sirkular, Amanda Syifa Adistri, Feriska Ajeng Anantri Jun 2024

Optimalisasi Penggunaan Energi Matahari Dalam Produk Photovoltaic Pada Era Ekonomi Sirkular, Amanda Syifa Adistri, Feriska Ajeng Anantri

Jurnal Vokasi Indonesia

Perubahan iklim menjadi salah satu masalah yang menjadi perhatian khusus bagi beberapa negara, termasuk Indonesia. Penggunaan energi secara terus menerus akan berdampak negatif, yaitu krisis energi dan pencemaran lingkungan berupa emisi karbon. Salah satu solusi yang dapat diimplementasikan untuk mengurangi emisi karbon yaitu dengan menggunakan energi alternatif. Salah satu penggunaan energi alternatif yaitu energi matahari. Energi matahari dapat dimanfaatkan sebagai energi listrik ramah lingkungan. Hal ini dikarenakan tidak adanya dampak negatif dalam penggunaannya serta mendukung adanya ketahanan energi baik di masa sekarang maupun di masa mendatang. Artikel ini bertujuan untuk memberikan pemahaman yang lebih mendalam tentang bagaimana cara mengurangi emisi …


Criticizing The Asset Repatriation Policy For Tax Amnesty In Indonesia: An Interpretive And Comparative Study, Nidya Hapsari Jun 2024

Criticizing The Asset Repatriation Policy For Tax Amnesty In Indonesia: An Interpretive And Comparative Study, Nidya Hapsari

Jurnal Vokasi Indonesia

Indonesia finds tax amnesty as a reliable funding alternative to develop a sustainable economy. Since 1964, Indonesia has implemented five tax amnesty programs. The latest two programs would offer lower amnesty compensation rates if taxpayers repatriated offshore assets back to Indonesia. However, the tax amnesty repatriation policy merely contributed minimal amounts of repatriated assets and low number of participants. Consequently, it failed to raise sufficient liquidity, fiscal revenues, tax compliance and economic growth. Hence, the study aims to (1) determine the justification and mechanism for the asset repatriation policy and (2) criticize the repatriation policy implementation. Applying interpretive and comparative …


In Memoir And Memory: Us Servicewomen In The Iraq War, Kelly Taylor Jun 2024

In Memoir And Memory: Us Servicewomen In The Iraq War, Kelly Taylor

Voces Novae

No abstract provided.


Post Mendez V. Westminister: Public Education For Mexican Americans 1965-1975, Alejandra Lemus Jun 2024

Post Mendez V. Westminister: Public Education For Mexican Americans 1965-1975, Alejandra Lemus

Voces Novae

No abstract provided.


Mexican, Mexican American, And Chicano: The Integration Of Mexican Immigrants During The Chicano Movement, Kaitlyn Pasillas Jun 2024

Mexican, Mexican American, And Chicano: The Integration Of Mexican Immigrants During The Chicano Movement, Kaitlyn Pasillas

Voces Novae

No abstract provided.


Condemnation, Experimentation, Adaptation: Ambivalence In The Work Of Three Jewish Émigré Directors In Golden Age Hollywood, Rachel Gregoire Jun 2024

Condemnation, Experimentation, Adaptation: Ambivalence In The Work Of Three Jewish Émigré Directors In Golden Age Hollywood, Rachel Gregoire

Voces Novae

No abstract provided.


An American Conspiracy Of The Lost Skull Of A General Francisco Villa, Jose Pillado Jun 2024

An American Conspiracy Of The Lost Skull Of A General Francisco Villa, Jose Pillado

Voces Novae

No abstract provided.


An International Civil War, Garrett Cuadros Jun 2024

An International Civil War, Garrett Cuadros

Voces Novae

No abstract provided.


Dixieland In Brazil: Confederate Descendants In The American Diaspora, Jordan Robbins Jun 2024

Dixieland In Brazil: Confederate Descendants In The American Diaspora, Jordan Robbins

Voces Novae

No abstract provided.


List Of Editors 2024 Jun 2024

List Of Editors 2024

Voces Novae

No abstract provided.


About The Authors 2024 Jun 2024

About The Authors 2024

Voces Novae

No abstract provided.


Information Literacy And Learning In The Emerging Digital Landscape: A Theoretical Review, Adeoye Augustine Bamgbose Jun 2024

Information Literacy And Learning In The Emerging Digital Landscape: A Theoretical Review, Adeoye Augustine Bamgbose

Library Philosophy and Practice (e-journal)

The 21st century has witnessed an unprecedented surge in information availability, catalyzed by rapid digital advancements. This paradigm shift has not only transformed how information is generated and accessed but has also fundamentally altered the learning landscape. Within this dynamic context, the intersection of information literacy and learning emerges as a critical area of inquiry. Information literacy, once confined to library sciences, has evolved into a multidimensional competency encompassing adept navigation, critical evaluation, and judicious utilization of digital information sources. This review delves into the intricate relationship between information literacy and learning in the digital age, drawing from various theoretical …


Bridging Words And Worlds: Innovative Writing Strategies For Adolescent Multilingual Learners, Robert A. Griffin Jun 2024

Bridging Words And Worlds: Innovative Writing Strategies For Adolescent Multilingual Learners, Robert A. Griffin

Journal of English Learner Education

This paper presents culturally responsive writing prompts, peer collaboration and language exchange, and multimodal writing experiences as three strategies to enhance adolescent multilingual learners’ English writing skills while leveraging their linguistic and cultural diversity. Culturally responsive writing prompts connect students’ personal experiences with academic tasks to enhance engagement and authenticity in writing. Peer collaboration, language exchange, and peer review foster a supportive learning community and improve writing skills through shared linguistic and cultural knowledge. Multimodal writing experiences broaden students’ expressive capabilities beyond traditional text by utilizing visual, digital, and oral modes of communication. Technology and AI integration in writing instruction …


Empowering English-Language Learners Through Acting, Translanguaging, And Collaborative Devising, Natasha L. Yannacanedo Jun 2024

Empowering English-Language Learners Through Acting, Translanguaging, And Collaborative Devising, Natasha L. Yannacanedo

Journal of English Learner Education

The author explores the transformative potential of using acting, translanguaging, and collaborative devising as tools for linguistic and personal development among English Language Learners (ELLs). Through a reflective narrative of teaching Acting I to ELL students, the paper delves into the challenges and successes encountered in integrating acting, translanguaging, and devising into the curriculum. Emphasizing the symbiotic relationship between acting and language learning, the author discusses how expressive language development, vocabulary acquisition, and enhanced pronunciation skills were cultivated. Additionally, the paper considers the role of translanguaging in creating a supportive and inclusive learning environment, where students' linguistic diversity is celebrated …


Teaching English Language Learners: Exploring The Instructional Modifications Mainstream Teachers Use, Nilufer Guler Jun 2024

Teaching English Language Learners: Exploring The Instructional Modifications Mainstream Teachers Use, Nilufer Guler

Journal of English Learner Education

The number of language learners (ELLs) is increasing rapidly at U.S. schools. Mainstream teachers have an important role in the academic success of these students because ELLs spend most of their school time in mainstream classes and are pulled out a few hours in a school day for ELL services. This research aims to uncover the educational experiences of ELLs in mainstream classes. Using statewide systematic initiative and qualities of linguistically responsive teachers as theoretical frameworks, I collected survey data from 129 teachers and interviewed 15 teachers. The results have shown that teachers tend to translate language for their students …


Teacher Candidates’ Service-Learning With English Learners, Hsiaoping Wu Jun 2024

Teacher Candidates’ Service-Learning With English Learners, Hsiaoping Wu

Journal of English Learner Education

This study explores the impact of a service-learning project with English Learners (ELs) on the instructional, conceptual, and emotional development of teacher candidates. Participants are pre-service teachers who work with ELs enrolled in elementary schools in Texas through a partnership with the Community in Schools (CIS) organization. The participants’ reflective journals provided qualitative evidence of the field experience and the students’ in-class discussions and projects. A qualitative analysis indicated four themes related to instruction techniques and emotional development from these field experiences: (1) the modified strategies can facilitate students’ comprehension, (2) the domains of languages, (3) increased confidence and empathy, …


Cooperating Teachers’ Views And Practices About Teaching Emergent Bilinguals In General Education Classrooms, Tunde Szecsi, Janka Szilagyi Jun 2024

Cooperating Teachers’ Views And Practices About Teaching Emergent Bilinguals In General Education Classrooms, Tunde Szecsi, Janka Szilagyi

Journal of English Learner Education

Cooperating teachers’ pedagogical beliefs and practices influence teacher candidates’ views and practices. Therefore, this study examined mainstream cooperating teachers’ perceptions about critical components of effective instruction for English learners, and the relationship between these teachers’ perceptions and classroom practices. We interviewed 55 teachers and completed a 90-minute observation in each classroom. We analyzed the interviews for common themes, and we used descriptive statistics to summarize the observation data. The findings indicated that teachers were well-versed in evidence-based instructional activities and strategies. However, many teachers found it challenging to infuse ELs’ language, culture and experiential background into their instruction.