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2021

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Late Afternoon Seasonal Transition To Dissolution In A Coral Reef: An Early Warning Of A Net Dissolving Ecosystem?, Laura Stoltenberg, Kai G. Schulz, Coulson A. Lantz, Tyler Cyronak, Bradley D. Eyre Jan 2021

Late Afternoon Seasonal Transition To Dissolution In A Coral Reef: An Early Warning Of A Net Dissolving Ecosystem?, Laura Stoltenberg, Kai G. Schulz, Coulson A. Lantz, Tyler Cyronak, Bradley D. Eyre

Marine & Environmental Sciences Faculty Articles

There are concerns that reefs will transition from net calcifying to net dissolving in the near future due to decreasing calcification and increasing dissolution rates. Here we present in situ rates of net ecosystem calcification (NEC) and net ecosystem production (NEP) on a coral reef flat using a slack-water approach. Up until dusk, the reef was net calcifying in most months but shifted to net dissolution in austral summer, coinciding with high respiration rates and a lower aragonite saturation state (Ωarag). The estimated sediment contribution to NEC ranged from 8 – 21 % during the day and 45 …


Nevada's Plan For Recovery And Resilience, Sri International, Rcg Economics, Brookings Mountain West Jan 2021

Nevada's Plan For Recovery And Resilience, Sri International, Rcg Economics, Brookings Mountain West

Policy Briefs and Reports

The report that follows contains the following components:

  • An economic forecast from RCG Economics on the situation expected for Nevada—GDP and employment—in the fall of 2021 (subject to all the present uncertainties faced by Nevada and the country as a whole).
  • A series of immediate actions, in which GOED plays a leadership role, to shelter and prepare for recovery key components of Nevada’s economy. The particular focus is on “Main Street” and small and medium sized businesses.
  • A set of visionary strategies, firmly grounded in Nevada’s underlying assets, that will accelerate the diversification of the state’s economy and the transition …


Effects Of Ionic Liquids On Metalloproteins., Aashka Y Patel, Keertana S Jonnalagadda, Nicholas Paradis, Timothy Vaden, Chun Wu, Gregory A. Caputo Jan 2021

Effects Of Ionic Liquids On Metalloproteins., Aashka Y Patel, Keertana S Jonnalagadda, Nicholas Paradis, Timothy Vaden, Chun Wu, Gregory A. Caputo

College of Science & Mathematics Departmental Research

In the past decade, innovative protein therapies and bio-similar industries have grown rapidly. Additionally, ionic liquids (ILs) have been an area of great interest and rapid development in industrial processes over a similar timeline. Therefore, there is a pressing need to understand the structure and function of proteins in novel environments with ILs. Understanding the short-term and long-term stability of protein molecules in IL formulations will be key to using ILs for protein technologies. Similarly, ILs have been investigated as part of therapeutic delivery systems and implicated in numerous studies in which ILs impact the activity and/or stability of protein …


Parisitology Bio 331, Michael Cerbo Jan 2021

Parisitology Bio 331, Michael Cerbo

Library Impact Statements

No abstract provided.


A Peek Inside The Machines Of Bacterial Nucleotide Excision Repair, Thanyalak Kraithong, Silas Hartley, David Jeruzalmi, Danaya Pakotiprapha Jan 2021

A Peek Inside The Machines Of Bacterial Nucleotide Excision Repair, Thanyalak Kraithong, Silas Hartley, David Jeruzalmi, Danaya Pakotiprapha

Publications and Research

Double stranded DNA (dsDNA), the repository of genetic information in bacteria, archaea and eukaryotes, exhibits a surprising instability in the intracellular environment; this fragility is exacerbated by exogenous agents, such as ultraviolet radiation. To protect themselves against the severe consequences of DNA damage, cells have evolved at least six distinct DNA repair pathways. Here, we review recent key findings of studies aimed at understanding one of these pathways: bacterial nucleotide excision repair (NER). This pathway operates in two modes: a global genome repair (GGR) pathway and a pathway that closely interfaces with transcription by RNA polymerase called transcription-coupled repair (TCR). …


Treading Water: How Citizens, States, And The Environmental Protection Agency Can Restore Proper Criminal Enforcement Of The Clean Water Act's National Pollutant Discharge Elimination System, Marley Kimelman Jan 2021

Treading Water: How Citizens, States, And The Environmental Protection Agency Can Restore Proper Criminal Enforcement Of The Clean Water Act's National Pollutant Discharge Elimination System, Marley Kimelman

Washington Journal of Environmental Law & Policy

Upon the passage of the Clean Water Act (“CWA”) in 1972, primary responsibility for protecting the United States' water quality and preventing water pollution shifted from the states to the Environmental Protection Agency (“EPA”). The program at the heart of the Clean Water Act, the National Pollutant Discharge Elimination System (“NPDES”), requires anyone who discharges pollutants into the waters of the United States to abide by the terms of a permit issued under the program. If a discharge occurs in violation of the permit or without a permit, and prosecutors are able to prove the responsible party acted with ordinary …


From Loon Lake To Chuckanut Creek: The Rise And Fall Of Environmental Values In Washington's Water Resources Act, Rachael Paschal Osborn Jan 2021

From Loon Lake To Chuckanut Creek: The Rise And Fall Of Environmental Values In Washington's Water Resources Act, Rachael Paschal Osborn

Washington Journal of Environmental Law & Policy

The year 2021 marks the 50th anniversary of the Water Resources Act of 1971, Washington’s program to protect instream flows in state rivers. Implementation has been controversial and, even a half century later, incomplete. Part 1 introduces the Act. Part 2 examines its legislative history, and administrative development by the Department of Ecology. The Act innovated water allocation, putting instream flows and public uses of rivers on par with out-of-stream water rights. But river protection labors under serious limitations, chief among them the subordination of instream flows to pre-existing water rights. And, although only half of Washington’s watersheds are protected …


Trends In Growth Modeling In Fisheries Science, Shane A. Flinn, Stephen R. Midway Jan 2021

Trends In Growth Modeling In Fisheries Science, Shane A. Flinn, Stephen R. Midway

Faculty Publications

No abstract provided.


The Utah Statesman, January 19, 2021, Utah State University Jan 2021

The Utah Statesman, January 19, 2021, Utah State University

The Utah Statesman

Weekly student newspaper of Utah State University in Logan.


Genetic Engineering Of Lesquerella With Increased Ricinoleic Acid Content In Seed Oil, Grace Q. Chen, Kumiko Johnson, Tara J. Nazarenus, Grisel Ponciano, Eva Morales, Edgar B. Cahoon Jan 2021

Genetic Engineering Of Lesquerella With Increased Ricinoleic Acid Content In Seed Oil, Grace Q. Chen, Kumiko Johnson, Tara J. Nazarenus, Grisel Ponciano, Eva Morales, Edgar B. Cahoon

Department of Biochemistry: Faculty Publications

Seeds of castor (Ricinus communis) are enriched in oil with high levels of the industrially valuable fatty acid ricinoleic acid (18:1OH), but production of this plant is limited because of the cooccurrence of the ricin toxin in its seeds. Lesquerella (Physaria fendleri) is being developed as an alternative industrial oilseed because its seeds accumulate lesquerolic acid (20:1OH), an elongated form of 18:1OH in seed oil which lacks toxins. Synthesis of 20:1OH is through elongation of 18:1OH by a lesquerella elongase, PfKCS18. Oleic acid (18:1) is the substrate for 18:1OH synthesis, but it is also used by fatty acid desaturase 2 …


Long Non-Coding Rna Meg3 Deficiency Impairs Glucose Homeostasis And Insulin Signaling By Inducing Cellular Senescence Of Hepatic Endothelium In Obesity, Xiao Cheng, Mohamed Sham Shihabudeen Haider Ali, Matthew Moran, Martonio Ponte Viana, Sarah L. Schlichte, Matthew C. Zimmerman, Oleh Khalimonchuk, Mark W. Feinberg, Xinghui Sun Jan 2021

Long Non-Coding Rna Meg3 Deficiency Impairs Glucose Homeostasis And Insulin Signaling By Inducing Cellular Senescence Of Hepatic Endothelium In Obesity, Xiao Cheng, Mohamed Sham Shihabudeen Haider Ali, Matthew Moran, Martonio Ponte Viana, Sarah L. Schlichte, Matthew C. Zimmerman, Oleh Khalimonchuk, Mark W. Feinberg, Xinghui Sun

Department of Biochemistry: Faculty Publications

Obesity-induced insulin resistance is a risk factor for diabetes and cardiovascular disease. However, the mechanisms underlying endothelial senescence in obesity, and how it impacts obesity-induced insulin resistance remain incompletely understood. In this study, transcriptome analysis revealed that the long non-coding RNA (lncRNA) Maternally expressed gene 3 (Meg3) is one of the top differentially expressed lncRNAs in the vascular endothelium in diet-induced obese mice. Meg3 knockdown induces cellular senescence of endothelial cells characterized by increased senescence-associated β–galactosidase activity, increased levels of endogenous superoxide, impaired mitochondrial structure and function, and impaired autophagy. Moreover, Meg3 knockdown causes cellular senescence of hepatic endothelium in …


Agenda, January 19, 2021, Programs Committee Jan 2021

Agenda, January 19, 2021, Programs Committee

Programs Committee (PC)

No abstract provided.


Independent And Cumulative Impacts Of Adverse Childhood Experiences On Adolescent Subgroups Of Anxiety And Depression, Isak Kim, Angélica Galván, Nayoung Kim Jan 2021

Independent And Cumulative Impacts Of Adverse Childhood Experiences On Adolescent Subgroups Of Anxiety And Depression, Isak Kim, Angélica Galván, Nayoung Kim

Counseling Faculty Publications

The purpose of this study is to investigate the independent and cumulative impacts of Adverse Childhood Experiences (ACEs) on the subgroups of anxiety and depression among 12–17 aged adolescents in the U.S. A sample of 21,496 cases was derived from the 2017–2018 National Survey of Children’s Health (NSCH). Four adolescent subgroups were identified depending on their mental health condition: Anxiety-only (7.2%), Depression-only (1.5%), Anxiety-Depression (6.3%), and None (85.0%). All sociodemographic characteristics such as sex, age, race/ethnicity, and family structure had significant associations with the subgroups. Two multinomial logistic regression analyses were conducted to examine the independent and cumulative effects of …


Coxsackievirus B3 Infection Early In Pregnancy Induces Congenital Heart Defects Through Suppression Of Fetal Cardiomyocyte Proliferation, Vipul Sharma, Lisa S Goessling, Anoop K Brar, Chetanchandra S Joshi, Indira U Mysorekar, Pirooz Eghtesady Jan 2021

Coxsackievirus B3 Infection Early In Pregnancy Induces Congenital Heart Defects Through Suppression Of Fetal Cardiomyocyte Proliferation, Vipul Sharma, Lisa S Goessling, Anoop K Brar, Chetanchandra S Joshi, Indira U Mysorekar, Pirooz Eghtesady

Open Access Publications

Background Coxsackievirus B (CVB) is the most common cause of viral myocarditis. It targets cardiomyocytes through coxsackie and adenovirus receptor, which is highly expressed in the fetal heart. We hypothesized CVB3 can precipitate congenital heart defects when fetal infection occurs during critical window of gestation. Methods and Results We infected C57Bl/6 pregnant mice with CVB3 during time points in early gestation (embryonic day [E] 5, E7, E9, and E11). We used different viral titers to examine possible dose-response relationship and assessed viral loads in various fetal organs. Provided viral exposure occurred between E7 and E9, we observed characteristic features of …


Death And Myocardial Infarction Following Initial Revascularization Versus Optimal Medical Therapy In Chronic Coronary Syndromes With Myocardial Ischemia: A Systematic Review And Meta-Analysis Of Contemporary Randomized Controlled Trials, Andrea Soares, William E Boden, Whady Hueb, Maria M Brooks, Helen E A Vlachos, Kevin O'Fee, Angela Hardi, David L Brown Jan 2021

Death And Myocardial Infarction Following Initial Revascularization Versus Optimal Medical Therapy In Chronic Coronary Syndromes With Myocardial Ischemia: A Systematic Review And Meta-Analysis Of Contemporary Randomized Controlled Trials, Andrea Soares, William E Boden, Whady Hueb, Maria M Brooks, Helen E A Vlachos, Kevin O'Fee, Angela Hardi, David L Brown

Open Access Publications

Background In chronic coronary syndromes, myocardial ischemia is associated with a greater risk of death and nonfatal myocardial infarction (MI). We sought to compare the effect of initial revascularization with percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) plus optimal medical therapy (OMT) with OMT alone in patients with chronic coronary syndrome and myocardial ischemia on long-term death and nonfatal MI. Methods and Results Ovid Medline, Embase, Scopus, and Cochrane Library databases were searched for randomized controlled trials of PCI or CABG plus OMT versus OMT alone for patients with chronic coronary syndromes. Studies were screened and data …


Study Outlines Genetic Factors Involved In Shaping The Human Gut Microbiome, Alicia Rohan Jan 2021

Study Outlines Genetic Factors Involved In Shaping The Human Gut Microbiome, Alicia Rohan

Browse All News

No abstract provided.


Specific Ion–Protein Interactions Influence Bacterial Ice Nucleation, Ralph Schwidetzky, Max Lukas, Dr. Azade Yazdanyar, Dr. Anna Kunert, Dr. Ulrich Pöschl, Katrin F. Domke, Dr. Janine Fröhlich-Nowoisky, Prof Dr. Bonn, Prof. Dr. Koop, Dr. Yuki Nagata, Konrad Meister Jan 2021

Specific Ion–Protein Interactions Influence Bacterial Ice Nucleation, Ralph Schwidetzky, Max Lukas, Dr. Azade Yazdanyar, Dr. Anna Kunert, Dr. Ulrich Pöschl, Katrin F. Domke, Dr. Janine Fröhlich-Nowoisky, Prof Dr. Bonn, Prof. Dr. Koop, Dr. Yuki Nagata, Konrad Meister

Faculty, Staff, and Students

Ice nucleation-active bacteria are the most efficient ice nucleators known, enabling the crystallization of water at temperatures close to 0 °C, thereby overcoming the kinetically hindered phase transition process at these conditions. Using highly specialized ice-nucleating proteins (INPs), they can cause frost damage to plants and influence the formation of clouds and precipitation in the atmosphere. In nature, the bacteria are usually found in aqueous environments containing ions. The impact of ions on bacterial ice nucleation efficiency, however, has remained elusive. Here, we demonstrate that ions can profoundly influence the efficiency of bacterial ice nucleators in a manner that follows …


Prediction Of Alzheimer’S Disease-Specific Phospholipase C Gamma-1 Snv By Deep Learning-Based Approach For High-Throughput Screening, Sung Hyun Kim, Sumin Yang, Key Hwan Lim, Euiseng Ko, Hyun Jun Jang, Mingon Kang, Pann Ghill Suh, Jae Yeol Joo Jan 2021

Prediction Of Alzheimer’S Disease-Specific Phospholipase C Gamma-1 Snv By Deep Learning-Based Approach For High-Throughput Screening, Sung Hyun Kim, Sumin Yang, Key Hwan Lim, Euiseng Ko, Hyun Jun Jang, Mingon Kang, Pann Ghill Suh, Jae Yeol Joo

Computer Science Faculty Research

© 2021 National Academy of Sciences. All rights reserved. Exon splicing triggered by unpredicted genetic mutation can cause translational variations in neurodegenerative disorders. In this study, we discover Alzheimer’s disease (AD)-specific single-nucleotide variants (SNVs) and abnormal exon splicing of phospholipase c gamma-1 (PLCγ1) gene, using genome-wide association study (GWAS) and a deep learning-based exon splicing prediction tool. GWAS revealed that the identified single-nucleotide variations were mainly distributed in the H3K27ac-enriched region of PLCγ1 gene body during brain development in an AD mouse model. A deep learning analysis, trained with human genome sequences, predicted 14 splicing sites in human PLCγ1 gene, …


Computational Study Of Helical And Helix-Hinge-Helix Conformations Of An Anti-Microbial Peptide In Solution By Molecular Dynamics And Vibrational Analysis, Faramarz Joodaki, Lenore M. Martin, Michael L. Greenfield Jan 2021

Computational Study Of Helical And Helix-Hinge-Helix Conformations Of An Anti-Microbial Peptide In Solution By Molecular Dynamics And Vibrational Analysis, Faramarz Joodaki, Lenore M. Martin, Michael L. Greenfield

Chemical, Biomolecular, and Materials Engineering Faculty Publications

Many classical antimicrobial peptides adopt an amphipathic helical structure at a water-membrane interface. Prior studies led to the hypothesis that a hinge near the middle of a helical peptide plays an important role in facilitating peptide-membrane interactions.Here, dynamics and vibrations of a designed hybrid antimicrobial peptide LM7-2 in solution were simulated to investigate its hinge formation.Molecular dynamics simulation results on the basis of the CHARMM36 force field showed that the $\alpha$-helix LM7-2 bent around two or three residues near the middle of the peptide, stayed in a helix-hinge-helix conformation for a short period of time, and then returned to a …


Article, Gulfport’S Capt. Barney Waterbury Wonders About The Future Of Florida’S Tree Canopy, January 19, 2021, Amanda Hagood Jan 2021

Article, Gulfport’S Capt. Barney Waterbury Wonders About The Future Of Florida’S Tree Canopy, January 19, 2021, Amanda Hagood

Creekshed: City Wilds

An article by Amanda Hagood about Barney Waterbury and tree climbing in St. Petersburg, Florida.


Scalable Fabrication Of Post-Drawn Bio-Based And Petroleum-Based Nanofibers With Tunable Fiber Alignment, Morphology, And Mechanical Properties Via An Automated Track Approach, Dave Jao Jan 2021

Scalable Fabrication Of Post-Drawn Bio-Based And Petroleum-Based Nanofibers With Tunable Fiber Alignment, Morphology, And Mechanical Properties Via An Automated Track Approach, Dave Jao

Theses and Dissertations

We propose to expand nanomanufacturing capabilities and develop processing methods to produce advanced nanofiber materials with enhanced macromolecular and functional properties. Over the past decade, there has been a tremendous increase in the demand for polymeric nanofibers, which are promising candidates for a wide range of technological applications, including tissue engineering, protective clothing, filtration/absorption materials, and sensors/electronic devices, batteries/energy harvest, and fiber-reinforced composites [1]. However, the accessibility of nanofiber materials is limited because it is impossible to produce polymer nanofibers using conventional techniques. Typically, conventional polymer fibers are manufactured by mechanical extrusion with a secondary post-drawing step that stretches the …


Dna Methylation Perturbations May Link Altered Development And Aging In The Lung., Priyadarshini Kachroo, Jarrett D. Morrow, Carrie A. Vyhlidal, R Gaedigk, Edwin K. Silverman, Scott T. Weiss, Kelan G. Tantisira, Dawn L. Demeo Jan 2021

Dna Methylation Perturbations May Link Altered Development And Aging In The Lung., Priyadarshini Kachroo, Jarrett D. Morrow, Carrie A. Vyhlidal, R Gaedigk, Edwin K. Silverman, Scott T. Weiss, Kelan G. Tantisira, Dawn L. Demeo

Manuscripts, Articles, Book Chapters and Other Papers

Fetal perturbations in DNA methylation during lung development may reveal insights into the enduring impacts on adult lung health and disease during aging that have not been explored altogether before. We studied the association between genome-wide DNA-methylation and post-conception age in fetal-lung (n=78, 42 exposed to in-utero-smoke (IUS)) tissue and chronological age in adult-lung tissue (n=160, 114 with Chronic Obstructive Pulmonary Disease) using multi-variate linear regression models with covariate adjustment and tested for effect modification by phenotypes. Overlapping age-associations were evaluated for functional and tissue-specific enrichment using the Genotype-Tissue-Expression (GTEx) project. We identified 244 age-associated differentially methylated positions and 878 …


Nmda Receptors Enhance The Fidelity Of Synaptic Integration, Chenguang Li, Allan Gulledge Jan 2021

Nmda Receptors Enhance The Fidelity Of Synaptic Integration, Chenguang Li, Allan Gulledge

Dartmouth Scholarship

Excitatory synaptic transmission in many neurons is mediated by two coexpressed ionotropic glutamate receptor subtypes, AMPA and NMDA receptors, that differ in kinetics, ion selectivity, and voltage-sensitivity. AMPA receptors have fast kinetics and are voltage-insensitive, while NMDA receptors have slower kinetics and increased conductance at depolarized membrane potentials. Here, we report that the voltage dependency and kinetics of NMDA receptors act synergistically to stabilize synaptic integration of EPSPs across spatial and volt- age domains. Simulations of synaptic integration in simplified and morphologically realistic dendritic trees re- vealed that the combined presence of AMPA and NMDA conductances reduce the variability of …


20210119_Hslic's Biomedical Informatics Seminar Series Presents- Nitin Verma, Msis, Tamara Wheeler Jan 2021

20210119_Hslic's Biomedical Informatics Seminar Series Presents- Nitin Verma, Msis, Tamara Wheeler

HSLIC Blog Post

No abstract provided.


Approved Programs, January 19, 2021, Programs Committee Jan 2021

Approved Programs, January 19, 2021, Programs Committee

Programs Committee (PC)

No abstract provided.


Week Of January 19, 2021, New York Medical College Jan 2021

Faculty Senate Executive Committee Agenda, January 19, 2021, Utah State University Jan 2021

Faculty Senate Executive Committee Agenda, January 19, 2021, Utah State University

Faculty Senate & Faculty Senate Executive Committee

  • EPC Monthly Report
  • PRPC Subcommittee 400 Code Rewrite
  • Office of Research Annual Report
  • School of Graduate Studies Annual Report
  • USUSA Annual Report
  • 404.3.6 Code Changes (second reading)


Temperature But Not Ocean Acidification Affects Energy Metabolism And Enzyme Activities In The Blue Mussel, Mytilus Edulis, Omera B. Matoo, Gisela Lannig, Christian Bock, Inna M. Sokolova Jan 2021

Temperature But Not Ocean Acidification Affects Energy Metabolism And Enzyme Activities In The Blue Mussel, Mytilus Edulis, Omera B. Matoo, Gisela Lannig, Christian Bock, Inna M. Sokolova

School of Biological Sciences: Faculty Publications

1. In mosaic marine habitats, such as intertidal zones, ocean acidification (OA) is exacerbated by high variability of pH, temperature, and biological CO2 production. The nonlinear interactions among these drivers can be context-specific and their effect on organisms in these habitats remains largely unknown, warranting further investigation. 2. We were particularly interested in Mytilus edulis (the blue mussel) from intertidal zones of the Gulf of Maine (GOM), USA, for this study. GOM is a hot spot of global climate change (average sea surface temperature (SST) increasing by >0.2°C/year) with >60% decline in mussel population over the past 40 years. 3. …


Association Of Presenting Symptoms With Abnormal Laboratory Values For Vector-Borne Illness — Experience In An Urban Gastroenterology Practice, Michael D. Erdman, Niloofar Kossari, Jessica Ye, Kristen H. Reynolds, Emily Blodget, B. Robert Mozayeni, Farshid Sam Rahbar Jan 2021

Association Of Presenting Symptoms With Abnormal Laboratory Values For Vector-Borne Illness — Experience In An Urban Gastroenterology Practice, Michael D. Erdman, Niloofar Kossari, Jessica Ye, Kristen H. Reynolds, Emily Blodget, B. Robert Mozayeni, Farshid Sam Rahbar

Journal of Patient-Centered Research and Reviews

Background: In the clinical setting, it is not common practice to consider a vector bite, such as from a tick or flea, to be a contributing factor to chronic digestive symptoms. This article investigates associations we have observed among symptomatic patients and positive blood tests for vector-borne illness (VBI).

Methods: Patients who visited an urban gastroenterology clinic over a 3-year period were retrospectively reviewed. A total of 270 patients presenting with a constellation of digestive symptoms — and who had no apparent digestive pathology and reported no prior diagnosis or treatments for VBI — were analyzed. Before the initial visit, …


Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan Jan 2021

Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Introduction and importance: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic cases have been described in literature. Identifying these cases in clinical practice is important for proper diagnosis and management.
Case presentation: We report a case of a 36-year-old male patient presented at metabolic bone disease clinic at the Aga Khan University Hospital with history of multiple fragility fractures and juvenile osteoporosis since childhood. DNA sequence analysis of the NOTCH2 coding sequence …