Diseases Commons^™

Factors Associated With Stillbirth In Four Selected Hospital Maternity Units: An Unmatched Case-Control Study In Eswatini, Phetsile Thwala, Abednego Ongeso, Rose Maina, Benard Mutwiri

School of Nursing & Midwifery, East Africa

Background: Stillbirth is a substantially under-recognized adverse pregnancy outcome that predominantly occurs in low-middle-income countries. In 2019, Eswatini’s stillbirth rate was 13.2 per 1,000 births, higher than global targets. However, there is limited research on stillbirths in Eswatini. This study analyzed factors associated with stillbirths among women giving birth in four selected hospitals.

Methods: A multi-center unmatched case-control study was conducted using secondary data sources from July 1 to December 31, 2021. Birth records of 268 stillbirths (cases) and 1,151 live births (controls) were selected using consecutive and systematic random sampling, respectively. A piloted data extraction tool was used to …

Neutrophil Lymphocyte Ratio As A Marker Of Skin Disease Activity In Older Children With Juvenile Dermatomyositis, Shreya Swaminathan, Nidhi Naik, Susan Shenoi, Sarah Vandenbergen, Jessica L. Turnier, Zilan Zheng, Jessica Neely, James S. Andrews, Christian Lood

Student Papers, Posters & Projects

BACKGROUND: Neutrophils contribute to the pathogenesis of many autoimmune diseases. While the neutrophil to lymphocyte ratio (NLR) is associated with disease activity in adult dermatomyositis, its clinical utility in juvenile dermatomyositis (JDM) is unknown.

METHODS: Demographic, medication use, autoantibody profile, disease activity markers, and laboratory data from 97 JDM patients was collected using retrospective chart review. Patients were age-stratified (0–9 vs. 9–21 years of age), as white blood cell count stabilizes at 9 years. The relationships between NLR with JDM disease activity measures were analyzed using spearman’s correlation.

RESULTS: Patients were primarily white (56.7%) and female (71.1%). Older children had …

Severe Myocarditis In The Pediatric Patient: A Simulation For Emergency Department Management, Prayerna Uppal, Anita Thomas, Robyn Wing, Lauren Kinneman, Cassandra Koid Jia Shin, Daisy Ciener, Jean I. Pearce, Claire Smith, Jennifer Reid, Kimberly Stone, Katina Summerford, Katherine Wolpert

School of Medicine Faculty Publications

Myocarditis in a pediatric patient can present with a variety of signs and symptoms, leading to a broad differential diagnosis. Delays in the correct identification of myocarditis and the initiation of appropriate interventions can have a detrimental impact on patient outcomes. In this case, a simulated five-year-old patient with myocarditis and secondary cardiogenic shock presents to the emergency department (ED). The goals of this simulation curriculum were to familiarize trainees and ED providers with the often nonspecific presentation of pediatric myocarditis, educate the care team about crucial interventions that positively or negatively impact the patient's stabilization course, and reinforce the …

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Small For Gestational Age Subgroups Have Differential Morbidity, Growth, And Neurodevelopment At Age 2: The Interbio-21st Newborn Study, Aris T. Papageorghiou, María C. Restrepo-Ménde, Rose Mcgready, Fernando C. Barros, Francois Nosten, Shama Munim, Roseline Ochieng, Rachel Craik, Hellen C. Barsosio, Zulfiqar Ahmed Bhutta

Department of Obstetrics & Gynaecology

Background: Small for gestational age is a complex perinatal syndrome associated with increased neonatal morbidity, mortality, and impaired childhood growth and neurodevelopment. Current classifications rely primarily on birthweight, which does not capture the heterogeneity of the condition nor predict long-term health outcomes. Here we aim to identify and characterize distinct small for gestational age subgroups and assess their neonatal and early childhood health trajectories.
Objective: To refine the classification of small for gestational age by identifying subgroups based on maternal, fetal, and environmental factors and evaluating their associations with neonatal morbidity, growth, and neurodevelopment at age 2.
Study design: Prospective …

Methemoglobinemia-Induced Cardiac Dysfunction In A Pediatric Patient, Brian Drury, Chelsea Boyd, Kelsey Van Housen, Siraj Amanullah

Student Papers, Posters & Projects

Methemoglobinemia is a rare congenital or acquired cause of functional anemia resulting from oxidation of hemoglobin. Prompt recognition and treatment are critical to prevent tissue hypoxia and end-organ injury. While other complications are well described, cardiac dysfunction is rarely reported—especially in children. We present what, to our knowledge, is the first known case of methemoglobinemia-induced transient cardiac dysfunction—or “myocardial stunning— in a pediatric patient. This case underscores the importance of maintaining a high index of suspicion and assessing cardiac involvement in such patients. Early intervention can lead to full recovery and prevent long-term sequelae, even in the presence of multiorgan …

Infective Endocarditis And Meningitis In A Healthy Newborn Without Underlying Heart Disease, Due To Streptococcus Agalactiae - A Case Report., Dalal Siddig Idris, Muath Mohammed Al Ghamdi, Maria Laura Bellovalls, Mohammed Fararjeh

Journal of the Saudi Heart Association

Streptococcus Agalactiae endocarditis is a rare clinical entity in newborns with a normal structured heart. It is generally characterized by acute onset, the presence of large vegetations, rapid valvular destruction and frequent complications, particularly embolization. Mortality is high with medical therapy alone. We are reporting a rare case of infective endocarditis (IE) with mitral valve vegetation in a 9-day old healthy newborn following Streptococcus Agalactiae sepsis, complicated by meningitis and micro-abscesses. Mitral valve (MV) vegetation was removed surgically; the patient received intravenous antibiotics for six weeks. Transthoracic echocardiography after surgery showed severe MV regurgitation and severe pulmonary hypertension which was …

Three-Dimensional Human Mucopolysaccharidosis Iva Chondrocyte Culture Reveals Significant Impairments In The Lysosomal-Mitochondrial Crosstalk, Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes. Given the interactions of lysosomes with various intracellular organelles, it is not surprising that lysosomal dysfunction can lead to improper functioning of lysosome-interacting organelles such as mitochondria. Mitochondrial alterations have been evaluated in several LSDs; nevertheless, they have not been fully addressed in MPS IVA. In this study, we assessed the mitochondrial alterations in MPS IVA chondrocytes using a three-dimensional culture approach. Our findings revealed that MPS IVA …

Undifferentiated Embryonal Sarcoma Of Liver In A Child : A Case Report, Neha Devendra Bhongale, Sumeet Baheti, Poonam Wade, Omkar Khandkar, Meenakshi Balasbramanian

Digital Journal of Clinical Medicine

Background: Undifferentiated Embryonal Sarcoma of liver (UESL) is a rare malignancy of liver originating from primary mesenchymal tissue with overall poor prognosis. Around 220 pediatric cases of UESL have been reported in the literature. The lack of characteristic clinical manifestations, laboratory tests and imaging studies pose a diagnostic challenge and the preoperative misdiagnosis rate is high. Historically, treatment was limited to surgical resection with poor survival rate. In recent times, combination of chemotherapy and surgical resection has improved survival.

Case Presentation: We report a case of undifferentiated embryonal sarcoma of liver in a 6 years old boy who presented …

Improving Outcomes In Pediatric Congenital Heart Disease: The Integration Of Wearable Technology And Ai-Driven Analysis, Sophia Moon, Melissa Cruz, Pad Renga

Research Colloquium

Background: Wearable devices such as biosensors and smartwatches have demonstrated clinical utility in arrhythmia detection in adult populations, but their integration into pediatric congenital heart disease (CHD) care remains limited. Despite advances in CHD management, challenges persist in the timely identification of arrhythmias in children. The use of wearables in pediatrics is constrained by research gaps, adherence issues, and complex data interpretation. Traditional tools like Holter monitors and event recorders face limitations in detecting intermittent arrhythmias and ensuring compliance. These devices cannot leverage artificial intelligence (AI) and machine learning (ML) to enhance ECG interpretation. This study analysis evaluates the potential …

Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza

School of Medicine Faculty Publications

OBJECTIVE: This study seeks to determine the rate of postoperative surgical site infections (SSI) among clean head and neck surgeries and review perioperative antibiotic administration practices. STUDY DESIGN: Retrospective review. SETTING: Pediatric tertiary care institution in New Orleans over a ten-year period. METHODS: A retrospective review was undertaken to identify clean head and neck surgical procedures performed at Manning Family Children's between 2013 and 2023. EPIC SlicerDicer™ was used to identify patients between ages 0-18 who underwent clean head and neck surgeries. Each chart was reviewed for perioperative antibiotic administration and occurrence of postoperative SSI. Rates of SSI were compared …

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

The 9th Annual Lafora Science Symposium: A Rare Epilepsy Community Makes Progress Towards Clinical Readiness, Meredith I. Williams, Katherine J. Donahue, Pascual Sanz, Souad Messahel, Jose M. Serratosa, Jordi Duran, Roberto Michelucci, Lorenzo Muccioli, Antonio Delgado-Escueta, Viet-Hong Nguyen, Berge A. Minassian, Matthew S. Gentry

Pharmacy Faculty Articles and Research

Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming …

Food Insecurity, Diet And Health Outcomes In Pediatric Inflammatory Bowel Disease: A Pilot Study, Nicole Zeky, Alysse Baudier, Colleen Leblanc, Elizabeth Mcdonough, Sarah A. Dumas, Dedrick Moulton

School of Medicine Faculty Publications

Background/Objectives: Food insecurity (FI) is a well-defined factor in pediatric health outcomes and has been associated with lower diet quality. While poor diet quality has been linked to the rising prevalence of inflammatory bowel disease (IBD), little is known about the impact of FI on pediatric IBD. This pilot study explores the feasibility and potential impact of FI on dietary intake and clinical outcomes in children with newly diagnosed IBD. Methods: This pilot study included newly diagnosed IBD patients aged 5 to 18. FI screening was completed using the USDA 6-item and AAP 2-item screeners at diagnosis and 6 months. …

Molecular Inflammatory Expression Profiles Associated With The Frequency Of Pain In Individuals With Sickle Cell Disease, Lana Mucalo Katunaric, Shuang Jia, Ashima Singh, Mark F. Roethle, Julie A. Panepinto, David C. Brousseau, Martin J. Hessner, Amanda M. Brandow

Department of Pediatrics Faculty Papers

Pain is the most common complication of sickle cell disease (SCD). The underlying biology of SCD pain is not well understood, which is a barrier to novel, effective analgesic and preventive therapies. A wide variability in the phenotypic expression of pain exists among individuals with SCD, despite the inheritance of a similar defective hemoglobin gene. This interindividual pain variability further complicates the ability to understand the biology and effectively treat pain. We sought to discover a biological signature comprising differentially expressed genes unique to SCD that could differentiate between individuals with varied pain frequency. We conducted plasma-induced transcription analysis from …

Common Cast Complications, Jessica A Mcgraw-Heinrich, Jon C Wall, Scott B Rosenfeld

Faculty, Staff and Students Publications

Complications can arise from the application, wear, and removal of casts and splints. This text reviews common complications, risk factors, and prevention strategies while exploring the medical-legal implications of these complications. Being aware of common pitfalls can help reduce risk and promote optimal patient outcomes.

Key concepts: (1)Proper and judicious casting and splinting techniques are critical to prevent complications.(2)Thermal injuries can occur due to excessive curing heat and cast saw burns.(3)Poor cast molding can lead to skin sores and loss of fracture reduction.(4)Patients should be comfortable in their cast, and uncontrolled pain warrants investigation.

Outcomes Of Suprapatellar Intramedullary Nail Fixation Of Tibial Shaft Fractures In Skeletally Immature Patients, Carlos D Pargas-Colina, Tori J Coble, Sara E Davis, David D Spence, Jonathan K Rowland, Derek M Kelly, Benjamin W Sheffer

Faculty, Staff and Students Publications

Background: Tibial shaft fractures in children require individualized treatment approaches, including elastic nails, plates and screws, intramedullary rigid nails (IMN), and external fixators, with selection based on fracture characteristics and patient factors. IMN risks damaging the physis, but can provide enhanced stability and immediate weight bearing. While both infrapatellar and suprapatellar approaches exist for IMN placement, studies in adults have demonstrated that the suprapatellar approach offers higher patient satisfaction, less anterior knee pain, and lower radiation exposure. However, there is a lack of data on IMN for pediatric tibial fractures.

Methods: This single-center, retrospective cohort study analyzed patients aged 11-16 …

Effectiveness And Safety Of Abobotulinumtoxina In Pediatric Lower Limb Spasticity: A Phase Iv, Prospective, Observational, Multicenter Study, Mark E. Gormley, Edward Dabrowski, Mauricio R. Delgado, Ann Tilton, Asare Christian, Sarah Helen Evans, Anne-Sophie Grandoulier, Jumaah Goldberg

School of Medicine Faculty Publications

Aim: To assess the longitudinal attainment of patient-centered, function-related Goal Attainment Scaling Total (GAS T)-score after repeated abobotulinumtoxinA (AboBoNT-A) injections over a period of up to 30 months and up to 10 cycles. Method: In this prospective observational study, the investigators' clinical practices recruited patients aged 2 to 17 years with pediatric lower limb spasticity (PLLS). GAS T-scores were assessed for each injection, and goals could be redefined at each visit; scores of 50 reflected goal achievement. Adverse events were recorded. Results: Of 210 patients in the effectiveness population, 171 had cerebral palsy and 163 were previously treated with a …

Factors Associated With Self-Report Symptom Screening Adherence In Pediatric Cancer Patients, L. Lee Dupuis, Emily Vettese, Catherine Aftandilian, Vibhuti Agarwal, Christina Baggott, Scott M. Bradfield, Nicole Crellin-Parsons, David R. Freyer, Kara M. Kelly, Allison A. King, Wade Kyono, Ramamoorthy Nagasubramanian, Etan Orgel, Michael E. Roth, Farha Sherani, Lolie Yu, Allison C. Grimes, Melissa P. Beauchemin, Lisa M. Klesges, George A. Tomlinson, Lillian Sung

School of Medicine Faculty Publications

Introduction: Objective was to describe the association between baseline characteristics and the number of Symptom Screening in Pediatrics Tool (SSPedi) assessments completed over an 8-week period. Methods: This was a sub-analysis of a cluster randomized controlled trial among 10 sites that were randomized to the intervention group. Participants were English- or Spanish-speaking pediatric patients 8–18 years of age newly diagnosed with cancer. Participants were prompted to complete SSPedi three times weekly for 8 weeks. The outcome was the number of SSPedi assessments completed during the 8-week period. Factors associated with the number of assessments were determined using mixed effects Poisson …

Disseminated Diaper Dermatitis With Concomitant Body Rash: A Case Report., Catherine F Alapatt, Eileen Condren, Tanya Kadrmas-Iannuzzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Diaper dermatitis is a rash typically localized to the genital area and may have various etiologies, including irritant and allergic contact dermatitis. In most cases, it resolves on its own with minimal to no medical intervention, and when treatment is necessary, it usually responds promptly. Here, we present a prolonged case of diaper dermatitis accompanied by a nearly full-body rash that was resistant to initial treatment with steroids, antibiotics, and antifungals.

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking Into Cell-Free Therapies For Bone-Affected Lysosomal Storage Disorders, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal dysfunction. In some cases of LSDs, the bone is more severely affected, thus producing skeletal manifestations in patients. Current therapies, such as enzyme replacement therapy (ERT) and gene therapy (GT), show limited efficacy in correcting skeletal abnormalities. Increasing evidence suggests that microenvironmental disturbances also contribute significantly to disease pathogenesis. Therefore, therapeutic strategies targeting lysosomal dysfunction and microenvironmental dysregulation are needed. Mesenchymal stem-cell-derived extracellular vesicles (MSC-EVs) are emerging as …

Factors Related To Hypertension In Pediatric Patients Who Do Not Have Obstructive Sleep Apnea: A Retrospective Chart Study, Alyssa Exarchakis, Alexandra Cohen, Penghao Wang, Seema Rani, Diana Martinez

Department of Medicine Faculty Papers

Background/Objectives: The relationship between OSA and adult hypertension has been extensively studied; however, it remains understudied in pediatric patients without OSA. The aim of this study is to identify factors associated with pediatric hypertension without OSA, through an IRB-approved retrospective chart review of patients who underwent polysomnography at Nemours Children's Hospital, DE/NJ between January 2020 and July 2023. Methods: Eligibility criteria included children 8-17 years, completed PSG, and clinic visit blood pressure (BP). Anthropometrics, demographics, social determinants, and medical history were obtained from electronic medical records. Hypertension was defined as the average systolic and/or diastolic BP that is …

Modeling Reemergence Of Vaccine-Eliminated Infectious Diseases Under Declining Vaccination In The Us, Mathew V Kiang, Kate M Bubar, Yvonne Maldonado, Peter J Hotez, Nathan C Lo

Faculty, Staff and Students Publications

Importance: Widespread childhood vaccination has eliminated many infectious diseases in the US. However, vaccination rates are declining, and there are ongoing policy debates to reduce the childhood vaccine schedule, which may risk reemergence of previously eliminated infectious diseases.

Objective: To estimate the number of cases and complications in the US under scenarios of declining childhood vaccination for measles, rubella, poliomyelitis, and diphtheria.

Design, setting, and participants: A simulation model was used to assess the importation and dynamic spread of vaccine-preventable infectious diseases across 50 US states and the District of Columbia. The model was parameterized with data on area-specific estimates …

Urgent Implementation Of Point-Of-Care Testing For Group A Streptococcal Infection In A Uk Children’S Emergency Department, Ruth Shorrocks, Philip J. Turner, Thomas Fanshawe, Umasha Ukwatte, Jim Gray, James Taylor, Liliana Graveto, Gail Hayward, Chris Bird

Journal of Pediatric Infectious Diseases

Objective: In late 2022, Western Europe and the United States experienced increased incidences of scarlet fever and life-threatening invasive group A strepto- coccal (iGAS) infections, especially among children. The outbreak was widely reported in the media in the United Kingdom, leading to increased emergency department (ED) attendances and threatened supplies of antibiotics. Our ED rapidly introduced point-of-care testing for GAS pharyngitis with the aim of rationalizing antibiotic prescribing.

Methods: We rapidly implemented the use of a molecular-based (polymerase chain reaction) point-of-care test for all children scoring 3 or higher on the McIsaac clinical prediction rule for GAS pharyngitis in children …

Epidemiology Of Acute Infectious Diarrhea-Associated Viruses In Children In Hangzhou, China, 2023, Ya-Jun Guo, Lin Li, Qin-Rui Lai, Wei Li

Journal of Pediatric Infectious Diseases

Objective: To investigate the epidemiological characteristics of children infected with diarrheal virus in Hangzhou, China, 2023.

Methods: From January 2023 to December 2023, 20,939 stool samples from children with acute infectious diarrhea were collected for detection of rotavirus A and human adenovirus, using Latex agglutination detection kits; 7584 stool samples were collected for detection of norovirus, using real‐time PCR reagent.

Results: 639 (3.0%, 639/20,939) tested positive for rotavirus A, and 1,201 (5.7%, 1,201/20,939) positive samples were detected by Colloidal gold method. The positive rates of norovirus were 42.2% (3,203/7,585). Among all age groups, the rotavirus A positive detection rate was …

Evaluation Of Pediatric Patients Diagnosed With Measles: A Retrospective Study In Istanbul, Zehra Yazi, Nahide Haykir Zehi̇r, Merve Akçay, Ufuk Yükselmiş, Ceren Çetin, Ayşe Karaaslan, Yasemin Akin

Journal of Pediatric Infectious Diseases

Objective: Measles, predominantly impacting the pediatric population, manifests symptoms encompassing fever, rash, rhinorrhea, cough, conjunctivitis, accompanied by infrequent yet plausible life-threatening complications.

Methods: This retrospective study conducted between January 2022 and July 2023 at a 1105-bed tertiary hospital in Istanbul, Türkiye, was focused on children diagnosed with measles and aged(PCR) were defined as definite measles cases.

Results: A total of 78 pediatric patients were diagnosed with measles, of whom 40 were evaluated as definite (51.3%) cases. Among the definite cases, 29 (72.5%) and 11 (27.5%) were girls and boys, respectively. Their median age was 78 (42–158) months. It was observed …

Early Recurrent Midgut Volvulus Post Ladd's Procedure In A Newborn: A Case Report, Nicole Clarke, Joanna Sajdlowska, John Paul Bustamante, Nishith Bhattacharyya

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Ladd's procedure is the standard surgical intervention for intestinal malrotation. Although generally curative, rare cases of early postoperative complications, including adhesions or recurrent volvulus, can necessitate reoperation. We present the case of a full-term newborn girl who underwent emergent Ladd's procedure on Day 3 of life for malrotation with volvulus. She was discharged on postoperative Day 17 but returned the following day with recurrent bilious emesis. Imaging suggested partial obstruction. Exploratory laparotomy revealed recurrent volvulus with two twists at the duodenojejunal junction, which was successfully reduced. The patient recovered well and was discharged on postoperative Day 8. This case underscores …

Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza

School of Medicine Faculty Publications

Gastroesophageal reflux disease (GERD) affects both adults and children, although the symptoms differ significantly between these groups. While adults typically experience heartburn and regurgitation, children may present with more subtle signs, such as failure to thrive, chronic cough, wheezing, and Sandifer syndrome. Diagnosing GERD in children necessitates a multifaceted approach due to the diverse symptomatology and challenges in communication. Clinical assessment serves as the cornerstone of diagnosis, supported by tools like pH monitoring, esophageal impedance testing, and upper gastrointestinal endoscopy. Imaging studies, such as barium swallow, can also provide valuable insights into anatomical abnormalities and the extent of reflux. Treatment …

A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker

Center for Medical Ethics and Health Policy Staff Publications

Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …

Measles, Mumps, Rubella Immunization And The Resurgence Of Measles In America, Peter J Hotez

Faculty, Staff and Students Publications

No abstract provided.