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Articles 74551 - 74580 of 1730916
Full-Text Articles in Entire DC Network
Insights From The Front Line: Uplifting Stories Of The Covid-19 Pandemic Through The Eyes Of The Public Health Workforce In Iowa, Heidi Haines, Amanda Sursely, Hanh Pham, Rylee Beltran, Daniel K. Sewell, Lina Tucker Reinders, Natoshia Askelson, Sarah Dixon, Kaitlin Emrich, Christine Estle, Michelle Lewis, Jimmy Reyes
Insights From The Front Line: Uplifting Stories Of The Covid-19 Pandemic Through The Eyes Of The Public Health Workforce In Iowa, Heidi Haines, Amanda Sursely, Hanh Pham, Rylee Beltran, Daniel K. Sewell, Lina Tucker Reinders, Natoshia Askelson, Sarah Dixon, Kaitlin Emrich, Christine Estle, Michelle Lewis, Jimmy Reyes
Faculty Publications
Introduction: SARS-CoV-2 was declared a pandemic in March 2020. Studies have characterized some of the negative impact of the pandemic on public health workers (PHW), but few have explored the strength and coping strategies used. Our study documents the experiences of PHW in Iowa during the pandemic. Methods: We used an innovative mixed methods data collection tool, SenseMaker® to gather stories from PHW in Iowa between March and July 2022. Participants provided additional data about their story via structured follow-up questions. We conducted descriptive analyses of the quantitative questions. A qualitative thematic and sentiment analysis was applied to all …
Effects Of Oxygen Manipulation On Myofibroblast Phenotypic Transformation In Patients With Radiation-Induced Fibrosis, Eric Mastrolonardo, Sarah Sussman, Bo Yun, Victor Jegede, Dev Amin, Joel Rosenbloom, Andrew P. South, Voichita Bar-Ad, Peter J Wermuth, Adam J. Luginbuhl
Effects Of Oxygen Manipulation On Myofibroblast Phenotypic Transformation In Patients With Radiation-Induced Fibrosis, Eric Mastrolonardo, Sarah Sussman, Bo Yun, Victor Jegede, Dev Amin, Joel Rosenbloom, Andrew P. South, Voichita Bar-Ad, Peter J Wermuth, Adam J. Luginbuhl
Department of Otolaryngology - Head and Neck Surgery Faculty Papers
We tested if hyperoxic conditions can reduce the proportion of active myofibroblasts, which are assumed to be a major driver of head and neck radiation-induced fibrosis, as measured by expression levels of pro-fibrotic genes. Radiated, non-cancerous soft tissue from the head and neck and skin/soft tissue from non-radiated flap donor site were collected from each patient. Myofibroblast density was quantified using immunofluorescence staining with α-SMA and DAPI and visualisation under confocal microscopy and compared between baseline non-radiated and radiated tissue from the same patient. From each tissue specimen, fibroblast cell lines were cultured and exposed to either normoxic, hypoxic, or …
The Microtubule-Severing Enzyme Spastin Regulates Spindle Dynamics To Promote Chromosome Segregation In Trypanosoma Brucei, Thiago Souza Onofre, Qing Zhou, Ziyin Li
The Microtubule-Severing Enzyme Spastin Regulates Spindle Dynamics To Promote Chromosome Segregation In Trypanosoma Brucei, Thiago Souza Onofre, Qing Zhou, Ziyin Li
Faculty, Staff and Student Publications
Microtubule-severing enzymes play essential roles in diverse cellular processes, including mitosis and cytokinesis, by modulating microtubule dynamics. In the early branching Trypanosoma brucei, microtubule-severing enzymes are involved in cytokinesis and flagellum length control, but none of them have been found to regulate mitosis. Here we report the characterization of the microtubule-severing enzyme spastin in the procyclic form of T. brucei. We demonstrate that spastin severs microtubule in vitro and overexpression of spastin disrupts spindle microtubules in vivo in trypanosomes, leading to defective chromosome segregation. Knockdown of spastin impairs spindle integrity and disrupts chromosome alignment and segregation. We further show that …
Enhancing Onboarding And Role Transition For Advanced Practice Clinicians Through The Development Of A Structured Mentorship Program, Christina Sternesky
Enhancing Onboarding And Role Transition For Advanced Practice Clinicians Through The Development Of A Structured Mentorship Program, Christina Sternesky
Walden Dissertations and Doctoral Studies
The assimilation of advanced practice clinicians (APCs), nurse practitioners, and physician assistants into healthcare systems is significantly dependent on the quality of their onboarding experience and the availability of a structured mentorship program. Without mentorship programs, APCs often experience job dissatisfaction, reduced confidence, undefined role clarity, and increased burnout. In this quality improvement Doctor of Nursing Practice project, I conducted a comprehensive assessment of the needs of APCs and subsequently developed a structured, evidence-based mentorship program. The program, approved by an expert panel, was designed to support the onboarding of APCS, their role transition, and ongoing professional development within a …
Public Support For Puma Reintroduction In The Eastern United States, L. Mark Elbroch, Jazmin J. Murphy, Shelby C. Carlson, John A. Vucetich, Richard E.W. Berl, Lexi Galiardi, Shelby Perry, Tom Butler, Neil Carter, Joseph W. Hinton, Axel Moehrenschlager, Emily Carrollo, Rana Bayrakcismith, Jeremy T. Bruskotter
Public Support For Puma Reintroduction In The Eastern United States, L. Mark Elbroch, Jazmin J. Murphy, Shelby C. Carlson, John A. Vucetich, Richard E.W. Berl, Lexi Galiardi, Shelby Perry, Tom Butler, Neil Carter, Joseph W. Hinton, Axel Moehrenschlager, Emily Carrollo, Rana Bayrakcismith, Jeremy T. Bruskotter
Michigan Tech Publications
Pumas (Puma concolor) are among the species identified as having the potential to enhance ecosystem function. Previous research highlights sufficient ecological habitat to support pumas in the eastern United States; however, their reintroduction requires social and institutional support as well. To this end, we conducted research to assess attitudes about puma reintroduction among key constituencies like hunters, rural residents, and young people. We sampled 2756 respondents across seven states (Massachusetts, Maine, New Hampshire, New York, Pennsylvania, Vermont, and West Virginia). Ratios of strong support (for puma reintroduction) to strong opposition across states ranged from 4:1 to 13:1, and support outweighed …
Adolescents' Use Of Music For Pain Management., Rebecca J. Lepping, Lora L. Black, Kymberly A. Kline, Deanna Hanson-Abromeit, Andrea L. Chadwick, Dustin Wallace, William R. Black
Adolescents' Use Of Music For Pain Management., Rebecca J. Lepping, Lora L. Black, Kymberly A. Kline, Deanna Hanson-Abromeit, Andrea L. Chadwick, Dustin Wallace, William R. Black
Manuscripts, Articles, Book Chapters and Other Papers
To investigate the experiences of adolescents with chronic pain who participated in an intensive interdisciplinary pain treatment program, this secondary study analyzes the themes that emerged regarding the spontaneous utilization of music in coping strategies for chronic pain. During research interviews focused on coping skills and treatment engagement, participants spontaneously reported using music as an effective coping strategy for managing pain. A deductive thematic analysis revealed key themes related to their usage, including using music as a distractor, motivator and in other ways as coping strategies. Since participants indicated that music is essential to their experiences of coping with pain, …
One-Year Clinical Outcomes In Patients With Acute Coronary Syndrome Treated With Clopidogrel Versus Prasugrel Versus Ticagrelor: Results Of The Polish Registry Of Acute Coronary Syndromes (Pl-Acs), Julia M. Umińska, Michał Skrzypek, Małgorzata Ostrowska, Piotr Adamski, Aldona Kubica, Piotr Niezgoda, Robert Gajda, Marek Gierlotka, Bartosz Hudzik, Wiktor Kuliczkowski, Diana A. Gorog, Paul A. Gurbel, Jolanta Siller-Matula, Łukasz Szarpak, Michael Savage, Grzegorz Skonieczny, Udaya Tantry, Przemysław Trzeciak, Eliano P. Navarese, Jacek Kubica, Mariusz Gąsior
One-Year Clinical Outcomes In Patients With Acute Coronary Syndrome Treated With Clopidogrel Versus Prasugrel Versus Ticagrelor: Results Of The Polish Registry Of Acute Coronary Syndromes (Pl-Acs), Julia M. Umińska, Michał Skrzypek, Małgorzata Ostrowska, Piotr Adamski, Aldona Kubica, Piotr Niezgoda, Robert Gajda, Marek Gierlotka, Bartosz Hudzik, Wiktor Kuliczkowski, Diana A. Gorog, Paul A. Gurbel, Jolanta Siller-Matula, Łukasz Szarpak, Michael Savage, Grzegorz Skonieczny, Udaya Tantry, Przemysław Trzeciak, Eliano P. Navarese, Jacek Kubica, Mariusz Gąsior
Division of Cardiology Faculty Papers
BACKGROUND: Efficient dual antiplatelet therapy is crucial in reducing adverse cardiovascular events in patients with acute coronary syndrome (ACS). Comparative effectiveness between clopidogrel, prasugrel, and ticagrelor remains unclear in real-world settings.
AIMS: The objective was to evaluate one-year clinical outcomes in ACS patients treated with clopidogrel, prasugrel, or ticagrelor using data from the Polish Registry of Acute Coronary Syndromes (PL-ACS).
MATERIAL AND METHODS: This retrospective cohort study analyzed 381 278 ACS patients from the PL-ACS registry from 2009 to 2022, who were treated with clopidogrel, prasugrel, or ticagrelor during hospitalization with a 12-month consistent regimen. The primary outcome was one-year …
Lessons From The 2023 Ieee Autonomous Drone Chase Challenge, Luigi Raphael I. Dy, Kristoffer B. Borgen, John H. Mott, Yung Hsiang Lu, Li Yu Lin, Zhangpeng Yang, James M. Goppert, Jakub Tomczak, Stefano Roccella, Andrea Vannini, Zhiwei Dong
Lessons From The 2023 Ieee Autonomous Drone Chase Challenge, Luigi Raphael I. Dy, Kristoffer B. Borgen, John H. Mott, Yung Hsiang Lu, Li Yu Lin, Zhangpeng Yang, James M. Goppert, Jakub Tomczak, Stefano Roccella, Andrea Vannini, Zhiwei Dong
Faculty Research, Scholarly, and Creative Activity
No abstract provided.
Sepsis Restructures The Mitochondrial Calcium Uniporter Complex In The Lymphoid Tissues Of Mice And Humans, Xianghong Zhang, Jianguo Lin, Baobo Zou, Jack R Killinger, Andrew C Sayce, Thiagarajan Meyyappan, Zeyu Xiong, Melanie J Scott, Janet S Lee, Matthew R Rosengart
Sepsis Restructures The Mitochondrial Calcium Uniporter Complex In The Lymphoid Tissues Of Mice And Humans, Xianghong Zhang, Jianguo Lin, Baobo Zou, Jack R Killinger, Andrew C Sayce, Thiagarajan Meyyappan, Zeyu Xiong, Melanie J Scott, Janet S Lee, Matthew R Rosengart
2020-Current year OA Pubs
Survivors of sepsis suffer from an elevated risk of premature death that is not explained by a higher burden of chronic diseases prior to the infection. Nearly 1 out of 4 survivors have persistent elevations of inflammation biomarkers, such as interleukin (IL) 6. These observations suggest that sepsis imparts durable changes to organismal biology. Eukaryotic life depends upon ATP and calcium (Ca
Causes Of Mortality In Patients With Inborn Errors Of Immunity: An 18-Year Retrospective Cohort Study, Salem Al-Tamemi, Musab Al Jabri, Eiman Abdalla, Ibrahim Al-Busaidi, Khalfan Al-Zeedy, Laila Al Yazidi
Causes Of Mortality In Patients With Inborn Errors Of Immunity: An 18-Year Retrospective Cohort Study, Salem Al-Tamemi, Musab Al Jabri, Eiman Abdalla, Ibrahim Al-Busaidi, Khalfan Al-Zeedy, Laila Al Yazidi
Sultan Qaboos University Medical Journal
Objectives: Inborn errors of immunity (IEI) are a diverse group of disorders arising from defects in the development and/or function of the immune system. However, data concerning the microbiological aspects of infections and direct causes of mortality in patients with IEI are limited and fragmented. This study aimed to elucidate the causes of disease and terminal events leading to death in a cohort of patients with IEI. Methods: This retrospective study included deceased patients who were diagnosed with primary immunodeficiency at Sultan Qaboos University Hospital in Muscat, Oman, over an 18-year period between 2005 and 2023. Data on clinical features, …
Influence Of Zinc Oxide Nanoparticles On The Efficiency Of Oxytetracycline Removal From Wastewater Using Continuous Catalytic Ozonation, Sarmad Al-Anssari, Hassanain A. Hassan, Maha K. Mohsin, Ahmed A. Mohammed
Influence Of Zinc Oxide Nanoparticles On The Efficiency Of Oxytetracycline Removal From Wastewater Using Continuous Catalytic Ozonation, Sarmad Al-Anssari, Hassanain A. Hassan, Maha K. Mohsin, Ahmed A. Mohammed
Research outputs 2022 to 2026
Antibiotics must be fully eliminated before they are released into the environment. In most cases, conventional wastewater treatment systems are not built to handle polar microcontaminants such as antibiotics. Oxytetracycline (OTC) is one of these antibiotics, an environmental hazard contaminant in aqueous solutions. Therefore, an advanced treatment method is needed for wastewater contaminated with antibiotics. In this study, we employed zinc oxide nanoparticles (ZnO), and the catalytic ozonation procedure was employed to increase the ozonation efficiency. A continuous experiment was carried out to compare the effectiveness of catalytic and single ozonation in degrading OTC in a continuous reactor. The flow …
Rishon Le-ẒIyyon, Winepress Park: Geomorphology And Sedimentology, Joel Roskin, Yotam Asscher
Rishon Le-ẒIyyon, Winepress Park: Geomorphology And Sedimentology, Joel Roskin, Yotam Asscher
Qadum: Journal of Excavation Reports from Israel
An extensive brown sandy double-unit sediment, draping large parts of the archaeological remains at the Winepress Park in Rishon Le-Ẓiyyon, is suggested to be associated with the previously reported, undated ʻEn Ha-Qore clay. Based on relative age port-OSL profiling, the depositional mechanism of this unit and the overlying sand is suggested to be related to late Holocene, dune-dammed winter ponds. These aeolian-fluvial dune-damming processes may have been partly triggered by intensive Byzantine human activity that may have led to sand mobilization.
Rishon Le-ẒIyyon, Winepress Park: The Coins, Helena Sokolov, Lior Sandberg
Rishon Le-ẒIyyon, Winepress Park: The Coins, Helena Sokolov, Lior Sandberg
Qadum: Journal of Excavation Reports from Israel
The excavation at the Winepress Park in Rishon Le-Ẓiyyon uncovered 26 bronze coins, 22 of which were identified. The coins range in date from the fourth century CE to the Umayyad period. The earliest coin is of Constantius II, dated to 341–346 CE, while the latest coins are Umayyad Post-Reform issues. The coin data is consistent with the archaeological context of the excavation and confirms the excavator’s conclusion that the site can be dated to the period of the sixth–ninth centuries CE.
Humanization Strategy Of The Public Urban Space In Cairo, Rania Badawy Shokry
Humanization Strategy Of The Public Urban Space In Cairo, Rania Badawy Shokry
Mansoura Engineering Journal
An accurate scientific definition of the term “humanization of cities” has not yet crystallized, which refers the term to the word from which it is derived. She is "human". Obviously, anything contrary to it is inhuman; starting from wild nature or a life entirely dependent on vehicles. If a person cannot dispense with vehicles when carrying out his daily activities, then here we know that the standard of humanization in a place is low. However, if the planning of a city or neighborhood takes into account the needs of the population and the human standard, then the city may reach …
Study Habits And Examination Anxiety As Correlates Of Academic Performance Among Secondary School Students In Kwara State, Nigeria, Oyedotun Dolapo Ilori, Falilat A. Okesina, Patrick O. Akerele, Ifeoluwa Blessing Michael
Study Habits And Examination Anxiety As Correlates Of Academic Performance Among Secondary School Students In Kwara State, Nigeria, Oyedotun Dolapo Ilori, Falilat A. Okesina, Patrick O. Akerele, Ifeoluwa Blessing Michael
Buletin Konseling Inovatif
Examination anxiety and study habits seem to be a significant factor of academic performance. This study examined study habits and examination anxiety as correlates of academic performance among secondary school students in Kwara State, Nigeria. This study adopted a descriptive survey of correlational type. The population for the study consists of 235, 652 secondary school students, and the sample consists of 400 secondary school students. Two research questions were answered using frequency count, percentage and mean rank order while the three hypotheses formulated were tested using inferential statistics of Pearson’s Product Moment Correlation statistics (PPMC) and multiple regression analysis at …
Exploring Victorian Era Class And Culture: Representation Of The Working Class Through Joseph Skipsey's Poetry, Nathasya Josephine
Exploring Victorian Era Class And Culture: Representation Of The Working Class Through Joseph Skipsey's Poetry, Nathasya Josephine
International Journal of Undergraduate Research and Creative Activities
Representation of minorities has always been a problem in publication. This is especially true in Victorian society, where class stratification was rampant and class distinctions were marked as normal. As a result, many authors from underprivileged communities are overshadowed by the influential literary giants we now know as the Canons. This paper aims to shed light on one of the unknown voices representing Victorian working-class society. Specifically, it will discuss Joseph Skipsey, a working-class author who writes poems about his daily life and struggles as a miner. The focus will be on two of his poems: "Get Up" and The …
Tank Chair [Book Review], Jj Pionke
Tank Chair [Book Review], Jj Pionke
Disability in LIS (DisLIS)
We are introduced to Nagi our wheelchair using assassin, and his adorable younger sister, as they try to figure out how improve the amount of time where he is awake.
Effects Of Plasma-Activated Water On Wheat: Germination And Seedling Development, Wafaa Abdulrazzaq Abdullah, Hadeel O. Ismael, Duaa A. Uamran, Hammad R. Humud
Effects Of Plasma-Activated Water On Wheat: Germination And Seedling Development, Wafaa Abdulrazzaq Abdullah, Hadeel O. Ismael, Duaa A. Uamran, Hammad R. Humud
Karbala International Journal of Modern Science
The food sector must contend with issues such as pathogen resistance to some of the available chemical agents, environmental pollution, and climate change to provide healthy food for livestock and people. The application of atmospheric pressure plasma jets (APPJs) is one potential solution for such problems. Plasma is appropriate for effective surface decontamination regarding food products and seeds, surface decontamination, and achieving improved agricultural production yields. The impact of plasma-activated water (PAW) produced by plasma jet discharge (PJD) system on in vitro-cultivated wheat seeds is examined in this work. For this aim, a plasma jet system was constructed with a …
Novel Suclg1 Variants In A Patient With Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency, Devlynne S. Ondusko, Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich, Sacha Ferdinandusse, Roxanne A. Van Hove, Jonathan N. Pruneda, Brian Scottoline, Kimberly A. Kripps
Novel Suclg1 Variants In A Patient With Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency, Devlynne S. Ondusko, Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich, Sacha Ferdinandusse, Roxanne A. Van Hove, Jonathan N. Pruneda, Brian Scottoline, Kimberly A. Kripps
Journal of Pediatric Genetics
Succinyl-CoA ligase deficiency is a rare autosomal recessive enzymatic deficiency that causes an energy-deficient state with mitochondrial depletion syndrome. It is often fatal. We present a case of novel variants in SUCLG1 leading to fatal infantile lactic acidosis. Two variants of uncertain significance in trans were identified in SUCLG1: c.901G>A p.(Gly301Arg) paternally inherited and c.532-6T>A maternally inherited. These variants resulted in severely reduced succinyl-CoA ligase activity. This patient exhibited the classical metabolic profile of succinyl-Co-A ligase deficiency and massive elevation of glutamine. Elevated glutamine, in the absence of hyperammonemia, should lead providers to consider succinyl-CoA ligase deficiency in …
46,Xx Disorders Of Sex Development: A Case With P.Arg92trp Variant In Nr5a1, Mehmet Ali Oktay, Agah Akin, Esra Döğer, Gülsüm Kayhan, Gizem Eşme Kocaman, Mahmut Orhun Çamurdan, Aysun Bi̇deci̇
46,Xx Disorders Of Sex Development: A Case With P.Arg92trp Variant In Nr5a1, Mehmet Ali Oktay, Agah Akin, Esra Döğer, Gülsüm Kayhan, Gizem Eşme Kocaman, Mahmut Orhun Çamurdan, Aysun Bi̇deci̇
Journal of Pediatric Genetics
Ovotesticular (OT) disorders of sex development (DSDs) are marked by the simultaneous presence of ovarian and testicular tissues within the gonads. The appearance of external genitalia does not necessarily correlate with gonadal histology. Variants in the NR5A1 gene can result in SRY-negative DSD. In this report, we present a case involving a variant in the NR5A1 gene. A 3-year-old phenotypic male presenting with micropenis, penile hypospadias, and a bifid scrotum was identified to have a c.274C > T, p.Arg92Trp variant in the NR5A1 gene, along with a 46, XX karyotype. Genetic factors such as variants in the NR5A1 gene, independent of …
A New Case Of Kilquist’S Syndrome With A Novel Variant In Slc12a2 And A Brief Review Of The Literature, Hatice Yelda Yalçin, Yiğithan Güzin, Tayfun Cinletil, Berk Özyilmaz, Gamze Uzan, Melis Köse, Figen Baydan
A New Case Of Kilquist’S Syndrome With A Novel Variant In Slc12a2 And A Brief Review Of The Literature, Hatice Yelda Yalçin, Yiğithan Güzin, Tayfun Cinletil, Berk Özyilmaz, Gamze Uzan, Melis Köse, Figen Baydan
Journal of Pediatric Genetics
Background: Kilquist syndrome (KILQS) is a recently characterized, rare disorder characterized by hearing loss, secretory dysfunction, gastrointestinal system (GIS) abnormalities, and neurological anomalies including hypotonia and global developmental delay. It is caused by variants in the SLC12A2 (Solute Carrier Family 12 Member 2) gene which encodes the Na-K-2Cl cotransporter isoform 1 (NKCC1). Objective: This study aims to contribute to genotype-phenotype correlations for SLC12A2 variants. Material and Methods: We evaluated a Turkish patient with a novel variant in SLC12A2 gene and reviewed all previously reported cases with Kilquist syndrome. Whole exome sequencing and Sanger sequencing were used as molecular genetic testing …
Egfr Mutation In Neonatal Nephrocutaneous Syndrome: Unveiling A Genetic Challenge, Manuela S. Lopes, Cátia Martins, Ana Ferraz, Joana Rosmaninho-Salgado, Rui Castelo, Joaquim Tiago, Leonor Ramos
Egfr Mutation In Neonatal Nephrocutaneous Syndrome: Unveiling A Genetic Challenge, Manuela S. Lopes, Cátia Martins, Ana Ferraz, Joana Rosmaninho-Salgado, Rui Castelo, Joaquim Tiago, Leonor Ramos
Journal of Pediatric Genetics
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein that exhibits tyrosine kinase signaling activity, playing a pivotal role in various cellular processes. Overexpression or overactivity of EGFR is significantly associated with inflammatory and malignant diseases, particularly lung cancer. Conversely, germline loss-of-function mutations in EGFR have been distinctly linked to a rare condition known as neonatal nephrocutaneous syndrome. We report a case of a preterm female neonate, born to consanguineous parents and from a pregnancy that was complicated by polyhydramnios. From birth, she displayed distinctive clinical features, including fragile skin and widespread erythema, sparse scalp hair, bilateral ankyloblepharon, thick eyebrows, …
A Child With Non-Growth Hormone-Deficient Short Stature With Chromosome 2 Deletion Of 2q35-36.1: A Case Report And Literature Review Of Haploinsufficiency Of Epha4 Gene, Jun Sun, Ya Xiao, Shu-Qin Jiang, Yi-Fan Wang, Hong-Ru Zhang, Wei Wang
A Child With Non-Growth Hormone-Deficient Short Stature With Chromosome 2 Deletion Of 2q35-36.1: A Case Report And Literature Review Of Haploinsufficiency Of Epha4 Gene, Jun Sun, Ya Xiao, Shu-Qin Jiang, Yi-Fan Wang, Hong-Ru Zhang, Wei Wang
Journal of Pediatric Genetics
Non-growth hormone-deficient short stature is a group of growth developmental disorders with complex pathophysiological mechanisms involving multiple pathways, including abnormalities in the growth hormone/insulin-like growth factor 1 signal pathway. We report a 4-year-old girl with severe growth and developmental delay: her height was 91 cm (<–3 standard deviation [SD]), and her growth rate was 3 to 4 cm/year (<–2 SD). Growth hormone stimulation tests indicated a normal peak growth hormone level (11.1 μg/L), while insulin-like growth factor-1 levels were reduced (7.98 nmol/L, <–1SD). Whole exome sequencing and copy number variation analysis revealed a 3.19 Mb deletion at 2q35-q36.1 on chromosome 2, encompassing all coding regions of the Epha4 gene. This study suggests an association between Epha4 gene deletion and non-growth hormone-deficient short stature, highlighting the importance of further research on this gene and its related signaling pathways to understand the molecular mechanisms of the disease and potential therapeutic approaches.
The First Turkish Spondylocarpotarsal Synostosis Syndrome Case With Ventricular Septal Defect And Pelvicaliectasia Caused By A Novel Homozygous Frameshift Variation In Flnb, Esra Dirimtekin, Esra Arslan Ateş, Hamza Polat, Eda Almus, Bilgen B. Geckinli
The First Turkish Spondylocarpotarsal Synostosis Syndrome Case With Ventricular Septal Defect And Pelvicaliectasia Caused By A Novel Homozygous Frameshift Variation In Flnb, Esra Dirimtekin, Esra Arslan Ateş, Hamza Polat, Eda Almus, Bilgen B. Geckinli
Journal of Pediatric Genetics
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM: 272460) is an autosomal recessive disorder characterized by block vertebrae, carpal-tarsal synostosis and disproportionate short stature. Some clinical characteristics of SCT are dysmorphic facial traits, cleft palate, hypoplastic tooth enamel, brachydactyly, clinodactyly, limited joint movement and mixed hearing loss. Biallelic nonsense and frameshift pathogenic variantions in FLNB gene are associated with SCT. An 8 -year -old patient was referred with a suspicion of skeletal dysplasia. He had short stature, scoliosis, carpal-tarsal synostosis and ventricular septal defect (VSD). Clinical exome sequence (CES) analysis was performed and a novel homozygous frameshift variation in FLNB (c.219_222dup p.Met75Profs*17) was …
Systematic Review About Clinical And Radiologic Manifestations In Patients With Fatco Syndrome, D’Karlo Yosue Dongo Cornejo, Wendy Alessandra Gutiérrez Baca, Maria Cristina Laso Salazar, Hugo Hernán Abarca-Barriga
Systematic Review About Clinical And Radiologic Manifestations In Patients With Fatco Syndrome, D’Karlo Yosue Dongo Cornejo, Wendy Alessandra Gutiérrez Baca, Maria Cristina Laso Salazar, Hugo Hernán Abarca-Barriga
Journal of Pediatric Genetics
FATCO syndrome (Fibular Aplasia, Tibial Camptomelia, Oligosyndactyly) is characterized by the presence of Fibula Aplasia, Tibial Campomelia and Oligosyndactyly. It is an autosomal dominant congenital genetic disorder, with an infrequent occurrence. This is the main reason behind the limited number of studies carried out to date, and the importance of carrying out this review to enhance the understanding of this syndrome. The objective of this review based on case reports is to describe and analyze the clinical and radiological characteristics of patients diagnosed with FATCO syndrome, in addition to demographic characteristics and concomitant anomalies. The databases used in this review …
Genotype First Approach As A Diagnostic Strategy For Precision Medicine In Moroccan Families With Nephronophthisis, Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal, Kenza Soulami, Abdelaziz Sefiani, Jaber Lyahyai
Genotype First Approach As A Diagnostic Strategy For Precision Medicine In Moroccan Families With Nephronophthisis, Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal, Kenza Soulami, Abdelaziz Sefiani, Jaber Lyahyai
Journal of Pediatric Genetics
Nephronophthisis is a group of autosomal recessive kidney diseases characterized by chronic tubulointerstitial abnormalities leading to kidney failure. The incidence of nephronophthisis varies globally, and its genetic heterogeneity presents significant difficulties in diagnosis. Herein, we present a molecular diagnosis of four unrelated Moroccan families fulfilling the clinical criteria of nephronophthisis. As first diagnosis step, screening for a homozygous NPHP1 gene deletion, the most common mutation, was performed by using multiplex polymerase chain reaction. Additionally, clinical exome sequencing was carried out on patients in whom no NPHP1 deletion was identified. Three novel pathogenic variants in NPHP1, INVS, and NPHP4 genes were …
Sleep Disordered Breathing In Children With Achondroplasia: 17 Years’ Experience From A Multidisciplinary Team, Maria Jose Guerdile, Virginia Fan, Mariana Del Pino, Vivian Leske
Sleep Disordered Breathing In Children With Achondroplasia: 17 Years’ Experience From A Multidisciplinary Team, Maria Jose Guerdile, Virginia Fan, Mariana Del Pino, Vivian Leske
Journal of Pediatric Genetics
The aim of this study was to describe sleep-disordered breathing (SDB) and treatment in children with achondroplasia (ACH). A retrospective longitudinal study was conducted at the Sleep Unit, Hospital de Pediatría Garrahan. Children with ACH, aged 0 to 18 years, referred for SDB due to clinical symptoms or foramen magnum stenosis (FMS) with at least one polysomnography (PSG) between 2002 and 2019 were included in the study. The primary outcomes included SDB typification and therapeutic interventions. We included 89 patients; 79.7% had one PSG, 13.4% had two PSGs, and 5.6% had three PSGs. The first PSG confirmed SDB in 65.16% …
Mucolipidosis Iii Gamma Masquerading As Juvenile Idiopathic Arthritis, Vykuntaraju K. Gowda, Sharath Babu, Varunvenkat M. Srinivasan
Mucolipidosis Iii Gamma Masquerading As Juvenile Idiopathic Arthritis, Vykuntaraju K. Gowda, Sharath Babu, Varunvenkat M. Srinivasan
Journal of Pediatric Genetics
No abstract provided.
Opportunities For Growth: A Metacognitive Self-Talk Strategy That Improves Classroom Unity And Academic Attitudes, Sera Anello, Michael J. Haslip
Opportunities For Growth: A Metacognitive Self-Talk Strategy That Improves Classroom Unity And Academic Attitudes, Sera Anello, Michael J. Haslip
Journal of Practitioner Research
This teacher action research study describes the development and application of the opportunities for growth teaching method to increase learner motivation, persistence, cooperation and positive self-talk among primary school students. The approach was implemented with 30 fourth graders in a Philadelphia public school classroom to foster unity, support attitudes toward academics and participation, redefine failure, and reframe challenges. Before this intervention, most of the students lacked self-regulation, self-awareness, and relationship skills needed to thrive. This study investigates how and to what effect the opportunities for growth approach shifts students’ language and mindset about academic and social challenges. Qualitative data was …
Teacher Inquiry: How Mathematics Discourse And Hands-On Learning Impact Student Outcomes And Teacher Attitudes, Mary-Katherine Miller
Teacher Inquiry: How Mathematics Discourse And Hands-On Learning Impact Student Outcomes And Teacher Attitudes, Mary-Katherine Miller
Journal of Practitioner Research
In this inquiry, the teacher worked alongside a university mentor to develop, monitor, and analyze the teacher’s wonderings. In a 3rd grade classroom, the teacher wanted to explore how hands-on and discourse strategies could impact mathematics achievement for all students. Specifically, the teacher explored how utilizing hands-on activities and discourse strategies in collaborative groups could lead to increased engagement and better outcomes for her exceptional student education (ESE) population in learning multiplication and division. Throughout the inquiry, the teacher used checklists, anecdotal notes, and student exit ticket scores to monitor student progress. At the end of the inquiry cycle, the …