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Lauren Dembeck

The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease
 The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease 1024 575 Lauren Dembeck
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Despite widespread scientific interest in messenger RNA (mRNA) structure, its role in human health and disease remains poorly understood. Researchers at Nationwide Children’s Hospital have developed novel software and metrics to identify “silent” genetic variants that affect mRNA folding and may underlie rare genetic disorders. Historically, synonymous or “silent” genetic variants — those in protein-coding…

The First Opioid-Prescribing Guidelines for Children Who Require Surgery
 The First Opioid-Prescribing Guidelines for Children Who Require Surgery 1024 573 Lauren Dembeck
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Providers should recognize the risks of opioids, maximize nonopioid regimens, and educate families appropriately. The first opioid-prescribing guidelines to address the unique needs of children who require surgery have been published by an expert panel in JAMA Surgery. The new guidelines aim to help health care professionals caring for children and adolescents in the perioperative…

Immersive Virtual Reality-Based Training Improves Empathy Among Health Care Providers
 Immersive Virtual Reality-Based Training Improves Empathy Among Health Care Providers 414 224 Lauren Dembeck
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A novel VR-based training program helps providers develop knowledge, skills, and attitudes to understand how social determinants of health affect patients and how to mitigate their effects. Researchers recently reported their novel virtual reality (VR)-based empathy training program, Making Professionals Able THrough Immersion (MPATHI), improved knowledge, skills, and attitudes of health care providers for care…

A Quick and Reliable Method to Determine The Time to Full Weight Bearing in Patients Undergoing Intramedullary Limb Lengthening
 A Quick and Reliable Method to Determine The Time to Full Weight Bearing in Patients Undergoing Intramedullary Limb Lengthening 1024 575 Lauren Dembeck
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A new method to objectively measure bone healing may help the patient with an intramedullary lengthening nail make strides to full weight bearing status. Intramedullary limb lengthening is indicated for the treatment of limb length discrepancy and short stature. Traditionally, the procedure was done using external fixators, which must remain on the patient’s limb for…

No Evidence Supporting Prophylactic Indomethacin Treatment for Most Preterm Infants
 No Evidence Supporting Prophylactic Indomethacin Treatment for Most Preterm Infants 1024 575 Lauren Dembeck
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Nurse caring for infant in Neonatal Intensive Care Unit (NICU)

Inconsistency among studies prompted researchers to take a closer look at the drug’s effects. Despite limited evidence supporting its use, prophylactic indomethacin treatment is often administered to very preterm infants within the first 24-hours after birth to reduce the risks of intraventricular hemorrhage and longer-term neonatal morbidities, such as bronchopulmonary dysplasia (BPD). Data from a…

Novel Nitric Oxide-Mediated Mechanism Facilitates Calcific Aortic Valve Disease
 Novel Nitric Oxide-Mediated Mechanism Facilitates Calcific Aortic Valve Disease 1024 752 Lauren Dembeck
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Top-down view of heart valves

The novel pathway could be targeted to prevent or reverse aortic valve calcification in humans. Researchers have recently described a novel nitric oxide-mediated mechanism in calcific aortic valve disease that involves the ubiqutin-proteasome pathway, and its modulation in animal models was shown to cause aortic valve calcification. The pathway could potentially be modulated to prevent…

Does Psychosocial Functioning Differ Among Children With and Without Differences of Sex Development?
 Does Psychosocial Functioning Differ Among Children With and Without Differences of Sex Development? 1024 575 Lauren Dembeck
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Parent and child holding hands

A multidisciplinary team of researchers recently found that children with differences of sex development (DSD) appear to be at greater risk for psychosocial problems relative to children with cleft lip and/or palate (CL/P) and unaffected peers. The study, which was published in the Journal of Pediatric Psychology, highlights the increased need for integrated interdisciplinary care with…

Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy
 Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy 1024 683 Lauren Dembeck
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Neuronal ceroid lipofuscinosis type 2 disease is a rare, rapidly-progressing, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. This form of Batten disease has an onset between two to four years of age. Children with CLN2 disease may experience intractable epilepsy, progressive cognitive and motor decline, and loss of vision. Historically, most children…

Novel Roles of the Urothelium in the Development of Congenital Anomalies of the Kidney and Urinary Tract
 Novel Roles of the Urothelium in the Development of Congenital Anomalies of the Kidney and Urinary Tract 150 150 Lauren Dembeck
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In addition to genetic defects, interactions of the developing urothelium with its underlying mesenchyme and superficial plaque may contribute to congenital anomalies of the kidney and urinary tract. Congenital anomalies of the kidney and urinary tract (CAKUTs) are the leading cause of chronic and end-stage kidney disease in children. Collaborative translational research at Nationwide Children’s…

Boosting Natural Killer Cells for the Treatment of COVID-19
 Boosting Natural Killer Cells for the Treatment of COVID-19 150 150 Lauren Dembeck
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Natural killer cells — critical for immune surveillance and host defense — have an important role in cancer immunotherapy and antiviral responses. While driving to the laboratory one day, Brian Tullius, MA, MD, a fourth-year bone marrow transplant and cell therapies fellow at Nationwide Children’s in the Lee Lab, had an epiphany. “I thought, ‘wait…

Reinforcing Education for Adrenal Insufficiency Self-Management Improves Patient Outcomes
 Reinforcing Education for Adrenal Insufficiency Self-Management Improves Patient Outcomes 150 150 Lauren Dembeck
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Patients with adrenal insufficiency (AI) receiving daily maintenance corticosteroid replacement therapy may develop signs and symptoms of AI when encountered with physical stress events, such as fever, infection, pain from injury or surgery. Patient education on stress dosing of hydrocortisone at the time of illness or injury is essential to prevent adrenal crisis, a life-threatening…

Does Low Baseline Renal Volume Lead to Renal Insufficiency in Children With Cloacal Anomalies?
 Does Low Baseline Renal Volume Lead to Renal Insufficiency in Children With Cloacal Anomalies? 1024 683 Lauren Dembeck
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According to the results of a recent study published in Urology, children with cloacal anomalies have baseline renal volumes similar to those of children without cloacal anomalies, indicating that the increased risk of renal insufficiency in children with cloacal anomalies appears to be due to postnatal renal injury. “Before we can determine if surgical interventions or…

Intractable Epilepsy Linked to Brain-Specific Genetic Mutation
 Intractable Epilepsy Linked to Brain-Specific Genetic Mutation 1024 794 Lauren Dembeck
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DNA replication errors during development are revealed by genomic study. As part of an ongoing, collaborative study between neurologists and genomics experts at Nationwide Children’s Hospital, researchers have identified somatic mosaicism in the resected brain tissues of a child with treatment-resistant, intractable epilepsy. One of the two genetically distinct cell populations identified carries a pathogenic…

Assessing the Impact of COVID-19 on Pediatric Cancer Research
 Assessing the Impact of COVID-19 on Pediatric Cancer Research 1024 575 Lauren Dembeck
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Times of uncertainty offer an opportunity to reflect and reevaluate priorities. “This is a time that warrants resiliency and different approaches for dealing with difficulties, and pediatric cancer research is a field that reflects the resilient spirit of the kids that we are striving to find cures for,” says Jeffery Auletta, MD, director of the Blood…

Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model
 Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model 1024 575 Lauren Dembeck
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Gene therapy shows promise for clinical benefit in demyelinating, neurodegenerative disease. Krabbe disease is an aggressive, incurable pediatric neurodegenerative disease caused by mutations in the galactosylceramidase (GALC) gene. Deficiency of the GALC protein activity leads to cytotoxic accumulation of a cellular metabolite called psychosine, which compromises normal turnover of myelin in the central and peripheral…

Can a Kidney Failure Risk Equation Validated in Adults Predict Kidney Failure in Children?
 Can a Kidney Failure Risk Equation Validated in Adults Predict Kidney Failure in Children? 1024 575 Lauren Dembeck
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Novel disease-specific biomarkers are needed to improve prediction models in pediatric disease. Obstructive uropathy is a frequent cause of kidney injury in children, and it is estimated to cause approximately one-sixth of pediatric kidney failure cases in North America. However, risk equations to predict kidney disease progression have not yet been developed for children. To…

Novel Genetic Variant Identified in CARMIL2 Deficiency
 Novel Genetic Variant Identified in CARMIL2 Deficiency 1024 575 Lauren Dembeck
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International program facilitates the diagnosis of a rare immunodeficiency in two children caused by a novel genetic variant. A multidisciplinary team of physicians and scientists at Nationwide Children’s Hospital have identified a novel loss-of-function variant causing CARMIL2 deficiency, an inborn error of immunity, in two Saudi Arabian brothers born to consanguineous parents. The case was…

Novel Use of Vedolizumab Resolves Steroid-Refractory Acute Graft-Versus-Host Disease in a Pediatric Transplant Recipient
 Novel Use of Vedolizumab Resolves Steroid-Refractory Acute Graft-Versus-Host Disease in a Pediatric Transplant Recipient 1024 575 Lauren Dembeck
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Vedolizumab is a monoclonal antibody that targets α4β7 integrin present on gut homing T cells and is indicated for adult inflammatory bowel disease Physicians at Nationwide Children’s Hospital have successfully treated steroid-refractory gastrointestinal acute graft-versus-host disease (SR GI aGVHD) with adjuvant vedolizumab therapy in a pediatric allogeneic hematopoietic cell transplant (HCT) recipient. The case was…

Exploring the Link Between Cystic Fibrosis and Celiac Disease
 Exploring the Link Between Cystic Fibrosis and Celiac Disease 1024 575 Lauren Dembeck
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Overlapping symptoms can cause delayed diagnosis of celiac disease in patients with cystic fibrosis. Physician scientists at Nationwide Children’s Hospital have recently identified three cases of patients with cystic fibrosis, all of whom had the same genotype, were treated with the CFTR modulator, ivacaftor, and were diagnosed with celiac disease. This adds to a novel body…

Open Reduction May Improve Acetabular Remodeling in Developmental Dysplasia of the Hip
 Open Reduction May Improve Acetabular Remodeling in Developmental Dysplasia of the Hip 1024 575 Lauren Dembeck
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Study of children who had reductions for developmental hip dysplasia at age 2 years or younger highlights differences in outcomes for open and closed reductions. In children under 2 years of age with developmental dysplasia of the hip, open reduction with capsulorrhaphy appears to improve acetabular remodeling more than closed reduction, according to a study…

Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease
 Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease 1024 575 Lauren Dembeck
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Variant type and inheritance pattern affect patient phenotypes in IQSEC2-related disease. Investigators from Nationwide Children’s Hospital and The Ohio State University College of Medicine recently identified additional pathogenic variants within the IQSEC2 gene, which has previously been associated with X-linked intellectual disability, in five patients. They also demonstrated that different variant types correlate with the severity of…

New Celiac Care Index Improves Adherence to Care Guidelines
 New Celiac Care Index Improves Adherence to Care Guidelines 1024 575 Lauren Dembeck
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The recent implementation of a Celiac Care Index (CCI) at Nationwide Children’s Hospital resulted in improved adherence to published care guidelines, reduced variability in baseline evaluations, and indicated potentially unnecessary baseline laboratory tests for further evaluation. The study, which was published in The Journal of Pediatrics, describes the quality improvement (QI) strategy implemented at the hospital.…

Keeping Options Open in Complex Pediatric Nephrolithiasis
 Keeping Options Open in Complex Pediatric Nephrolithiasis 1024 575 Lauren Dembeck
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Urologists in the Pediatric Urology Midwest Alliance recently looked at how endoscopic assisted robotic pyelolithotomy could reduce the number of procedures for children with ureteropelvic junction obstruction. The Pediatric Urology Midwest Alliance (PUMA) recently published a new report demonstrating that endoscopic assisted robotic pyelolithotomy (EARP) is an acceptable treatment option for complex cases of pediatric…

Understanding Drug Interactions in Diffuse Midline Gliomas
 Understanding Drug Interactions in Diffuse Midline Gliomas 1024 683 Lauren Dembeck
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In a recent publication in Science Translational Medicine, researchers studied combinations of approved and investigational drugs to identify promising pairs, such as panobinostat and marizomib, for the treatment of diffuse intrinsic pontine glioma (DIPG) and other diffuse midline gliomas (DMG). In recent years, studies have shown that diffuse intrinsic pontine glioma (DIPG) subtypes are driven…

Lung Transplant Index Enhances Identification of Preventable Harms in Adolescents and Young Adults
 Lung Transplant Index Enhances Identification of Preventable Harms in Adolescents and Young Adults 150 150 Lauren Dembeck
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A recent Quality Improvement (QI) Initiative at Nationwide Children’s Hospital has reduced the percent of missed opportunities to address preventable harms in a population of adolescent and young adult patients who underwent lung transplant at the hospital. The study is published in Pediatric Quality and Safety. “We tried to focus on all issues, all body systems,…

Nephritis Identified as High Research Priority Area For Childhood-Onset Lupus
 Nephritis Identified as High Research Priority Area For Childhood-Onset Lupus 150 150 Lauren Dembeck
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In an effort to establish research priorities in childhood-onset systemic erythematous lupus (cSLE), researchers at Nationwide Children’s Hospital partnered with the Lupus Foundation of America (LFA) and Childhood Arthritis and Rheumatology Research Alliance (CARRA). Their findings are recently published in Pediatric Rheumatology. According to the results of their multidisciplinary prioritization survey of leading rheumatology, dermatology and…

Rethinking Gastroesophageal Reflux Disease (GERD) in Infants
 Rethinking Gastroesophageal Reflux Disease (GERD) in Infants 150 150 Lauren Dembeck
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Novel use of existing technology points to other causes of GERD-like symptoms. While typically attributed to gastroesophageal reflux disease (GERD), supra-esophageal symptoms, such as cough, back arching and gagging, can be temporally associated with aerophagia, according to a new study by researchers at Nationwide Children’s Hospital. The findings come from the novel implementation of standard…

Redirecting the Natural Immune Response to Disrupt Bacterial Biofilms
 Redirecting the Natural Immune Response to Disrupt Bacterial Biofilms 150 150 Lauren Dembeck
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A new vaccine candidate has the potential to improve outcomes for patients with chronic, recurrent diseases, such as ear infections. Could this platform technology be an important key in solving the antibiotic resistance threat? Most bacterial species prefer to live in biofilms, where they are protected from antibiotic treatments and can lead to chronic and recurrent…

A Molecular Mechanism Underlying Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension in Neonates
 A Molecular Mechanism Underlying Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension in Neonates 150 150 Lauren Dembeck
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New study identifies critical enzyme and potential therapeutic target for pulmonary hypertension in preterm infants with bronchopulmonary dysplasia. Nitric oxide can be life saving for many newborns with pulmonary hypertension (PH); however, there are subsets of patients who do not respond to current PH treatment. Therefore, scientists at Nationwide Children’s Hospital are investigating the enzymes…

Surprise Finding in Respiratory Syncytial Virus Infection Viral Load Study
 Surprise Finding in Respiratory Syncytial Virus Infection Viral Load Study 150 150 Lauren Dembeck
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Understanding viral load dynamics can help inform treatment decisions Respiratory syncytial virus (RSV) lower respiratory tract infection is a leading cause of hospitalization and mortality in infants worldwide, but a licensed RSV vaccine has not yet been developed, in part due to the incomplete understanding of RSV pathogenesis. While investigating the relationship between RSV viral…

New Model Provides Novel View of Congenital Heart Disease
 New Model Provides Novel View of Congenital Heart Disease 150 150 Lauren Dembeck
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The small animal model helps researchers to interpret genomic findings. Researchers at Nationwide Children’s Hospital have developed the first mouse model of congenital heart valve disease using a human gene carrying a disease-causing mutation. Using this model, they were able to follow the human valve disease phenotype from birth to adulthood and identify developmental deficits…

Research Collaborative Improves Outcome Prediction in Children With Posterior Urethral Valves
 Research Collaborative Improves Outcome Prediction in Children With Posterior Urethral Valves 150 150 Lauren Dembeck
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Combining data from five centers allowed researchers to address novel research questions for this rare disease. The Pediatric Urology Midwest Alliance (PUMA) recently published the results of its first collaborative study in Pediatrics. Using data from five institutions, the team demonstrated that the risk of renal replacement therapy and recommendation for clean intermittent catheterization increased with…

Why Do Synthetic Tracheal Replacements Fail?
 Why Do Synthetic Tracheal Replacements Fail? 150 150 Lauren Dembeck
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Synthetic tracheal replacements experience infectious, inflammatory and mechanical failures. Tracheal defects in children and adults can often be addressed with current surgical techniques. However, when a defect is large, greater than 50% of an adult windpipe or 30% of a pediatric windpipe, few options exist to repair it without donor tissue. For decades, tissue engineers…

Development of a Patient Reported Experience and Outcomes Measure in Pediatric Patients
 Development of a Patient Reported Experience and Outcomes Measure in Pediatric Patients 150 150 Lauren Dembeck
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Researchers develop a questionnaire that enables them to assess the burden of treatment compared to the burden of the disease. Researchers have developed a rigorous, patient reported experience and outcomes questionnaire for pediatric patients undergoing an intensive bowel management program (BMP). The report was published online in the Journal of Pediatric Gastroenterology and Nutrition. “Often physicians…

How Similar Is Chronic Pancreatitis Among Pediatric and Adult Patients?
 How Similar Is Chronic Pancreatitis Among Pediatric and Adult Patients? 150 150 Lauren Dembeck
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A large, international study highlights room for improvement in care and transition of patients ages 17 to 24 years old. A new study that compared adult patients with pancreatic disease starting when they were children with pediatric patients with pancreatic disease revealed remarkable similarities in the cause of the disease and progression to chronic pancreatitis.…

Preventing the Development of Muscular Dystrophy Through Surrogate Gene Therapy
 Preventing the Development of Muscular Dystrophy Through Surrogate Gene Therapy 1024 683 Lauren Dembeck
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Researchers identify a key regulatory protein implicated in Galgt2 overexpression and begin to elucidate its protective mechanism against muscular dystrophy. Researchers at Nationwide Children’s Hospital have identified a small, soluble protein that can activate a human gene known to inhibit the development of muscular dystrophy when overexpressed in muscle. That is, when there is a…

Development of Innovative Scoring Systems for Sickness and Tissue Damage From Clostridium difficile Colitis
 Development of Innovative Scoring Systems for Sickness and Tissue Damage From Clostridium difficile Colitis 1024 575 Lauren Dembeck
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In a new publication, the team reported the development of two novel scoring systems to consistently and efficiently assess sickness and tissue injury during antibiotic-associated C. difficile colitis in a murine model. “My laboratory at Nationwide Children’s Research Institute has collaborated for several years with two other laboratories, those of Dr. Steven Goodman and Dr. Michael Bailey.…

“Learn From Every Patient” to Improve Clinical Care
 “Learn From Every Patient” to Improve Clinical Care 150 150 Lauren Dembeck
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How can busy clinicians tending to clinical care simultaneously conduct translational research and improve treatments for patients? The Nationwide Children’s Hospital Cerebral Palsy team recently reported an evidence-based change in practice — eliminating annual screening X-rays in patients mildly affected by CP — facilitated by use of the Learn From Every Patient (LFEP) Program. LFEP…

Do All Cystic Fibrosis Modulators Improve Killing of Bacteria?
 Do All Cystic Fibrosis Modulators Improve Killing of Bacteria? 150 150 Lauren Dembeck
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Predicting Subsequent Hip Slips in Children Using MRI
 Predicting Subsequent Hip Slips in Children Using MRI 150 150 Lauren Dembeck
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Prediction of Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension by Combining Clinical and Genetic Data
 Prediction of Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension by Combining Clinical and Genetic Data 150 150 Lauren Dembeck
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Antibiotic-Induced Disruption of Intestinal Microbiota Leads to Increased Mortality From a Respiratory Viral Infection
 Antibiotic-Induced Disruption of Intestinal Microbiota Leads to Increased Mortality From a Respiratory Viral Infection 150 150 Lauren Dembeck
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Recent study indicates that antibiotic use disrupts gastrointestinal microbial communities and can indirectly influence host immune response, even in distant tissues. “The indiscriminate and overuse of antibiotics may have further reaching consequences than just evolution of antibacterial-resistant superbugs,” says physician-scientist Mitchell Grayson, MD, lead author of a new study published in Frontiers in Immunology. Dr. Grayson, who…

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