Digital Commons Network^™

Evaluation Of The Family Integrated Care Model Of Neonatal Intensive Care: A Cluster Randomized Controlled Trial In Canada And Australia, Karel O'Brien, Marianne Bracht, Kate Robson, Xiang Y. Ye, Lucia Mirea, Melinda Cruz, Eugene Ng, Luis Monterrosa, Amuchou Soraisham, Ruben Alvaro, Michael Narvey, Orlando Da Silva, Kei Lui, William Tarnow-Mordi, Shoo K. Lee

Paediatrics Publications

Background: Admission to the neonatal intensive care unit (NICU) may disrupt parent-infant interaction with adverse consequences for infants and their families. Several family-centered care programs promote parent-infant interaction in the NICU; however, all of these retain the premise that health-care professionals should provide most of the infant's care. Parents play a mainly supportive role in the NICU and continue to feel anxious and unprepared to care for their infant after discharge. In the Family Integrated Care (FICare) model, parents provide all except the most advanced medical care for their infants with support from the medical team. Our hypothesis is that …

A Review Of The Principles And Benefits Of Cue-Based Feeding, Diana M. Cormier

DNP Forum

Literature reflects that neonatal clinical practices are increasingly infant-driven, and promote, developmentally based care. Particularly, in the area of oral feeding, practitioners are moving away from traditional gestational age criteria for the initiation of oral feeding, or progressing feedings based on volume, instead they are trending toward feeding protocols that are based on developmental maturity.

A statement released by the American Academy of Pediatrics (2008), made the attainment of independent oral feeding one of the critical criteria for hospital discharge of preterm infants. This statement not only reflected the increased research attention on oral feeding acquisition and outcomes, it caused …

Development Of A Set Of Force Response Equations To Represent The Musculature In Infants To Study Development Dysplasia Of The Hip, Brendan Jones

HIM 1990-2015

This paper describes how a force response equation was created to model muscles, tendons, and ligaments of the hip joint to improve a biomechanical model of an infant hip to study Developmental Dysplasia of the Hip (DDH). DDH is the most common abnormality in newborn infants and is defined as any amount of instability in the hip including complete dislocation. Researchers at our institution are attempting to increase the success rate of treatment methods by creating computer models of the biomechanics of infant hip instability and dislocation. The computer model used a scaled adult pelvis, femur, tibia, fibula and foot …

Is Quantitative Ultrasound A Valid Technique For Assessing Bone Quality In Deceased Infants?, Miriam Elizabeth Soto Martinez

Doctoral Dissertations

There is no quantitative method for evaluating infant bone quality that is non-invasive, portable, brief in scan duration, and does not use ionizing radiation. This study investigates the relationship between components of infant bone quality and a measure of quantitative ultrasound (QUS), speed of sound (SOS), to provide insight into the validity of QUS as a diagnostic tool for evaluating infant bone quality. The study sample was comprised of 78 infants between the age of 30 weeks estimated gestational age and 12 postnatal months receiving an autopsy at the Harris County Institute of Forensic Sciences and Texas Children’s Hospital. Bone …

Successive 1-Month Weight Increments In Infancy Can Be Used To Screen For Faltering Linear Growth, Adelheid W. Onyango, Elaine Borghi, Mercedes De Onis, Edward A. Frongillo Jr., Cesar G. Victora, Kathryn G. Dewey, Anna Lartey, Nita Bhandari, Anne Baerug, Cutberto Garza

Faculty Publications

Background: Linear growth faltering in the first 2 y contributes greatly to a high stunting burden, and prevention is hampered by the limited capacity in primary health care for timely screening and intervention.

Objective: This study aimed to determine an approach to predicting long-term stunting from consecutive 1-mo weight increments in the first year of life.

Methods: By using the reference sample of the WHO velocity standards, the analysis explored patterns of consecutive monthly weight increments among healthy infants. Four candidate screening thresholds of successive increments that could predict stunting were considered, and one was selected for …

Safety And Immunogenicity Of Human Serum Albumin-Free Mmr Vaccine In Us Children Aged 12-15 Months., Maurice A. Mufson, Clemente Diaz, Michael Leonardi, Christopher J. Harrison, Stanley Grogg, Antonio Carbayo, Simon Carlo-Torres, Robert Jeanfreau, Ana Quintero-Del-Rio, Gisele Bautista, Michael Povey, Christopher Da Costa, Ouzama Nicholson, Bruce L. Innis

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: M-M-R(TM)II (MMRII; Merck & Co) is currently the only measles-mumps-rubella (MMR) vaccine licensed in the United States. Another licensed vaccine would reinforce MMR supply. This study assessed the immunogenicity of a candidate vaccine (Priorix(TM), GlaxoSmithKline Vaccines [MMR-RIT]) when used as a first dose among eligible children in the United States.

METHODS: In this exploratory Phase-2, multicenter, observer-blind study, 1220 healthy subjects aged 12-15 months were randomized (3:3:3:3) and received 1 dose of 1 of 3 MMR-RIT lots with differing mumps virus titers (MMR-RIT-1 [4.8 log10]; MMR-RIT-2 [4.1 log10]; MMR-RIT-3 [3.7 log10] CCID50) or MMRII co-administered with hepatitis A vaccine …

Gestational Diabetes, Infant Feeding Practices, And Early Indicators Of Obesity Risk In A Sample Of Mother-Infant Dyads In The U.S., Kimberly N. Doughty

Doctoral Dissertations

Research suggests that the trajectory to obesity and its associated metabolic disorders begins early in life. Prenatal exposure to maternal gestational diabetes mellitus (GDM) is associated with increased risk, while breastfeeding is associated with reduced risk. Breastfeeding may influence obesity risk by preventing rapid postnatal weight gain. Mothers with gestational diabetes may not breastfeed as intensely as healthy mothers, potentially exacerbating the risk to their infants. We conducted three distinct investigations related to gestational diabetes, breastfeeding, and infant weight gain. All used data from the U.S. Infant Feeding Practices Study II. Multivariate logistic regression was used to estimate associations between …

Mortality-Related Resource Utilization In The Inpatient Care Of Hypoplastic Left Heart Syndrome., David A. Danford, Quentin Karels, Aparna Kulkarni, Aysha Hussain, Yunbin Xiao, Shelby Kutty

Journal Articles: Pediatrics

BACKGROUND: Quantifying resource utilization in the inpatient care of congenital heart diease is clinically relevant. Our purpose is to measure the investment of inpatient care resources to achieve survival in hypoplastic left heart syndrome (HLHS), and to determine how much of that investment occurs in hospitalizations that have a fatal outcome, the mortality-related resource utilization fraction (MRRUF).

METHODS: A collaborative administrative database, the Pediatric Health Information System (PHIS) containing data for 43 children's hospitals, was queried by primary diagnosis for HLHS admissions of patients ≤21 years old during 2004-2013. Institution, patient age, inpatient deaths, billed charges (BC) and length of …

Prognostic Role Of Bnp In Children Undergoing Surgery For Congenital Heart Disease: Analysis Of Prediction Models Incorporating Standard Risk Factors., Massimiliano Cantinotti, Raffaele Giordano, Marco Scalese, Sabrina Molinaro, Francesca Della Pina, Simona Storti, Luigi Arcieri, Bruno Murzi, Marco Marotta, Vitali Pak, Vincenzo Poli, Giorgio Iervasi, Shelby Kutty, Aldo Clerico

Journal Articles: Pediatrics

BACKGROUND: The routine use of brain natriuretic peptide (BNP) in pediatric cardiac surgery remains controversial. Our aim was to test whether BNP adds information to predict risk in pediatric cardiac surgery.

METHODS: In all, 587 children undergoing cardiac surgery (median age 6.3 months; 1.2-35.9 months) were prospectively enrolled at a single institution. BNP was measured pre-operatively, on every post-operative day in the intensive care unit, and before discharge. The primary outcome was major complications and length ventilator stay >15 days. A first risk prediction model was fitted using Cox proportional hazards model with age, body surface area and Aristotle score …

Psychological Interventions For Vaccine Injections In Young Children 0 To 3 Years: Systematic Review Of Randomized Controlled Trials And Quasi-Randomized Controlled Trials, Rebecca Pillai Riddell, Anna Taddio, C. Meghan Mcmurtry, Christine Chambers, Vibhuti Shah, Melanie Noel

Paediatrics Publications

Background: This systematic review evaluated the effectiveness of distraction for reducing infant distress during vaccinations in young children aged 0 to 3 years. Design/Methods: Database searches identified relevant randomized and quasi-randomized controlled trials. Three separate clinical questions related to variants of the psychological strategy of distraction (directed video; directed toy; nondirected toy) were pursued. Distress was identified as the critical outcome to assess the benefits of distraction and extracted from relevant trials. Distress was analyzed by phase of procedure (distress preprocedure; distress acute; distress recovery; idiosyncratic phases based on some or all of the 3 aforementioned phases). Results: Ten studies …

Down Syndrome With Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, And Pulmonary Vein Stenosis, Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

The Texas Heart Institute Journal

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.

Maternal Postsecondary Education Associated With Improved Cerebellar Growth After Preterm Birth., Mikaela L Stiver, Daphne Kamino, Ting Guo, Angela Thompson, Emma G Duerden, Margot J Taylor, Emily W Y Tam

Brain and Mind Institute Researchers' Publications

The preterm cerebellum is vulnerable to impaired development impacting long-term outcome. Preterm newborns (<32 >weeks) underwent serial magnetic resonance imaging (MRI) scans. The association between parental education and cerebellar volume at each time point was assessed, adjusting for age at scan. In 26 infants, cerebellar volumes at term (P = .001), but not birth (P = .4), were associated with 2-year volumes. For 1 cm(3) smaller cerebellar volume (4% total volume) at term, the cerebellum was 3.18 cm(3) smaller (3% total volume) by 2 years. Maternal postsecondary education was not associated with cerebellar volume at term (P = .16). Maternal …

Ideas For A Healthy Baby--Reducing Disparities In Use Of Publicly Reported Quality Data: Study Protocol For A Randomized Controlled Trial, Sarah L. Goff, Penelope S. Pekow, Katharine O. White, Tara Lagu, Kathleen M. Mazor, Peter K. Lindenauer

Sarah L. Goff MD

BACKGROUND: Publicly reported performance on quality measures is intended to enable patients to make more informed choices. Despite the growing availability of these reports, patients' use remains limited and disparities exist. Low health literacy and numeracy are two barriers that may contribute to these disparities. Patient navigators have helped patients overcome barriers such as these in other areas, such as cancer care and may prove useful for overcoming barriers to using publicly reported quality data. METHODS/DESIGN: The goals of this study are: to determine the efficacy of a patient navigator intervention to assist low-income pregnant women in the use of …

Recurrent Streptococcus Equi Subsp. Zooepidemicus Bacteremia In An Infant, Joshua R. Watson, Amy Leber, Sridhar Velineni, John F. Timoney, Monica I. Ardura

Maxwell H. Gluck Equine Research Center Faculty Publications

We describe a case of an infant with recurrent bacteremia caused by Streptococcus equi subsp. zooepidemicus, likely transmitted from mother to infant. Our case highlights the importance of an epidemiological history and molecular diagnostics in ascertaining insights into transmission, pathogenesis, and optimal management.

Maternal Psychiatric Disease And Epigenetic Evidence Suggest A Common Biology For Poor Fetal Growth, Timothy H. Ciesielski, Carmen J. Marsit, Scott M. Williams

Dartmouth Scholarship

We sought to identify and characterize predictors of poor fetal growth among variables extracted from perinatal medical records to gain insight into potential etiologic mechanisms. In this process we reevaluated a previously observed association between poor fetal growth and maternal psychiatric disease. We evaluated 449 deliveries of >36 weeks gestation that occurred between 9/2008 and 9/2010 at the Women and Infants Hospital in Providence Rhode Island. This study group was oversampled for Small-for-Gestational-Age (SGA) infants and excluded Large-for-Gestational-Age (LGA) infants. We assessed the associations between recorded clinical variables and impaired fetal growth: SGA or Intrauterine Growth Restriction (IUGR) diagnosis. After …

Characterizing And Modeling Antibiotic Resistance Dynamics In Diverse Microbial Communities, Molly Krisann Gibson

Arts & Sciences Electronic Theses and Dissertations

Complex microbial communities colonize every habitat investigated to date, including soil, animals, water, and humans, as well as the structures we live in. It has been hypothesized that there is network of exchange allowing both bacterial organisms and functions to seamlessly move between and within these environments. These microbial communities often serve essential and beneficial functions for the host organism or environment. This is particularly evident in the human gut, where microbial communities consistently provide a set of services to its human host, including protecting against enteric pathogens, liberating nutrients from food, and signaling immune system regulation. However, these communities …

Task Force 2: Pediatric Cardiology Fellowship Training In Noninvasive Cardiac Imaging. Spctpd/Acc/Aap/Aha., Shubhika Srivastava, Beth F Printz, Tal Geva, Girish S. Shirali, Paul M Weinberg, Pierre C Wong, Peter Lang, Society Of Pediatric Cardiology Training Program Directors, American College Of Cardiology, American Academy Of Pediatrics, American Heart Association

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Practice Patterns And Outcomes Of Pediatric Partial Nephrectomy In The United States: Comparison Between Pediatric Urology And General Pediatric Surgery, Kristina D. Suson, Cortney Wolfe-Christensen, Jack S. Elder, Yegappan Lakshmanan

Urology Articles

BACKGROUND: In the United States, both pediatric urologists (PUROs) and general pediatric surgeons (GPSs) perform nephrectomies in children, with PUROs performing more nephrectomies overall, most commonly for benign causes. GPSs perform more nephrectomies for malignant causes. We questioned whether the same trends persisted for partial nephrectomy.

OBJECTIVE: We hypothesized that PUROs performed more partial nephrectomies for all causes, including malignancy. Our primary aim was to characterize the number of partial nephrectomies performed by PUROs and GPSs. We also compared short-term outcomes between subspecialties.

STUDY DESIGN: We analyzed the Pediatric Health Information System (PHIS), a database encompassing data from 44 children's …

Tract-Based Spatial Statistics In Preterm-Born Neonates Predicts Cognitive And Motor Outcomes At 18 Months., E G Duerden, J Foong, V Chau, H Branson, K J Poskitt, R E Grunau, A Synnes, J G Zwicker, S P Miller

Brain and Mind Institute Researchers' Publications

BACKGROUND AND PURPOSE: Adverse neurodevelopmental outcome is common in children born preterm. Early sensitive predictors of neurodevelopmental outcome such as MR imaging are needed. Tract-based spatial statistics, a diffusion MR imaging analysis method, performed at term-equivalent age (40 weeks) is a promising predictor of neurodevelopmental outcomes in children born very preterm. We sought to determine the association of tract-based spatial statistics findings before term-equivalent age with neurodevelopmental outcome at 18-months corrected age.

MATERIALS AND METHODS: Of 180 neonates (born at 24-32-weeks' gestation) enrolled, 153 had DTI acquired early at 32 weeks' postmenstrual age and 105 had DTI acquired later at …

Prevalence Of And Risk Factors For Intracranial Abnormalities In Unprovoked Seizures., Peter S. Dayan, Kathleen Lillis, Jonathan Bennett, Gregory P. Conners, Pam Bailey, James Callahan, Cigdem Akman, Neil Feldstein, Joshua Kriger, W Allen Hauser, Nathan Kuppermann

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Prospective data are lacking to determine which children might benefit from prompt neuroimaging after unprovoked seizures. We aimed to determine the prevalence of, and risk factors for, relevant intracranial abnormalities in children with first, unprovoked seizures.

METHODS: We conducted a 6-center prospective study in children aged >28 days to 18 years with seemingly unprovoked seizures. Emergency department (ED) clinicians documented clinical findings on a standardized form. Our main outcome was the presence of a clinically relevant intracranial abnormality on computed tomography (CT) or MRI, defined as those that might change management, either emergently, urgently, or nonurgently.

RESULTS: …

Scarnas Regulate Splicing And Vertebrate Heart Development., Prakash Patil, Nataliya Kibiryeva, Tamayo Uechi, Jennifer A. Marshall, James E. O'Brien, Michael Artman, Naoya Kenmochi, Douglas C. Bittel

Manuscripts, Articles, Book Chapters and Other Papers

Alternative splicing (AS) plays an important role in regulating mammalian heart development, but a link between misregulated splicing and congenital heart defects (CHDs) has not been shown. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of infants with tetralogy of Fallot (TOF). Moreover, there was a significant decrease in the level of 12 small cajal body-specific RNAs (scaRNAs) that direct the biochemical modification of specific nucleotides in spliceosomal RNAs. We sought to determine if scaRNA levels influence patterns of AS and heart development. We used primary cells derived …

Age At Onset In Patients With Medically Refractory Temporal Lobe Epilepsy And Mesial Temporal Sclerosis: Impact On Clinical Manifestations And Postsurgical Outcome., Ali Akbar Asadi-Pooya, Michael R. Sperling

Department of Neurology Faculty Papers

PURPOSE: To evaluate the demographic and clinical manifestations and postsurgical outcome of childhood-onset mesial temporal sclerosis and temporal lobe epilepsy (MTS-TLE) and establishing the potential differences as compared to the patients with adult-onset MTS-TLE.

METHOD: In this retrospective study all patients with a clinical diagnosis of medically refractory TLE due to mesial temporal sclerosis, who underwent epilepsy surgery at Jefferson comprehensive epilepsy center, were recruited. Patients were prospectively registered in a database from 1986 through 2014. Postsurgical outcome was classified into two groups; seizure-free or relapsed. Clinical manifestations and outcome were compared between patients with childhood-onset MTS-TLE (i.e., age at …

Design Of A Non-Contact Home Monitoring System For Audio Detection Of Infant Apnea, Daniel T. White

Master's Theses

Infant apnea is a widespread condition in which infants fail to effectively breathe, and can lead to death. Clinical solutions exist for continuous monitoring of respirations in a hospital setting and requiring constant skin contact. This thesis investigates the construction of a proof of concept device that performs in-home monitoring without skin contact and with commonly available off-the-shelf components.

The device constructed used a directional microphone to detect breathing sounds, an omnidirectional microphone to detect ambient noise as a baseline to help isolate the breathing sounds, and LabVIEW software deployed on an inexpensive laptop computer to quantify incidents of apparent …

Improving Early Infant Hiv Diagnosis In Kenya: Study Protocol Of A Cluster-Randomized Efficacy Trial Of The Hitsystem., Sarah Finocchario-Kessler, Kathy Goggin, Samoel Khamadi, Brad Gautney, Jacinda K. Dariotis, Charles Bawcom, An-Lin Cheng, Niaman Nazir, Catherine Martin, Andrea Ruff, Michael Sweat, Vincent Okoth

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Early infant diagnosis among human immunodeficiency virus (HIV)-exposed infants is a critical component of prevention of mother-to-child transmission programs. Barriers to early infant diagnosis include poor uptake, low retention at designated re-testing intervals, delayed test results, passive systems of communication, and poor linkage to treatment. This study will evaluate the HIV Infant Tracking System (HITSystem), an eHealth intervention that streamlines communication and accountability between the key early infant diagnosis stakeholders: HIV+ mothers and their HIV-exposed infants, healthcare providers, and central laboratory personnel. It is hypothesized that the HITSystem will significantly improve early infant diagnosis retention at 9 and 18 …

Fetal, Neonatal, Infant, And Child International Growth Standards: An Unprecedented Opportunity For An Integrated Approach To Assess Growth And Development., Cutberto Garza

Global Health Faculty Publications

The recent publication of fetal growth and gestational age-specific growth standards by the International Fetal and Newborn Growth Consortium for the 21st Century Project and the previous publication by the WHO of infant and young child growth standards based on the WHO Multicentre Growth Reference Study enable evaluations of growth from ∼9 wk gestation to 5 y. The most important features of these projects are the prescriptive approach used for subject selection and the rigorous testing of the assertion that growth is very similar among geographically and ethnically diverse nonisolated populations when health, nutrition, and other care needs are met …

Placental Dna Methylation Related To Both Infant Toenail Mercury And Adverse Neurobehavioral Outcomes, Jennifer Zeynab Joukhadar Maccani, Devin C. Koestler, Barry Lester, E Andres Houseman, David A. Armstrong, Karl T. Kelsey, Carmen J. Marsit

Dartmouth Scholarship

Background:

Prenatal mercury (Hg) exposure is associated with adverse child neurobehavioral outcomes. Because Hg can interfere with placental functioning and cross the placenta to target the fetal brain, prenatal Hg exposure can inhibit fetal growth and development directly and indirectly.

Objectives:

We examined potential associations between prenatal Hg exposure assessed through infant toenail Hg, placental DNA methylation changes, and newborn neurobehavioral outcomes.

Methods:

The methylation status of > 485,000 CpG loci was interrogated in 192 placental samples using Illumina’s Infinium HumanMethylation450 BeadArray. Hg concentrations were analyzed in toenail clippings from a subset of 41 infants; neurobehavior was assessed using the NICU …

Parent And Infant Occupational Performance In The Neonatal Intensive Care Unit, Ashlea D. Cardin

Doctor of Occupational Therapy Doctoral Projects

The earliest of occupational therapy interventions often commence in the Neonatal Intensive Care Unit (NICU), where mothers and fathers begin learning how to parent in unexpected surroundings and with unexpected complications. This project seeks to present an innovative approach to neonatal occupational therapy practice, framed using the Person-Environment- Occupation-Performance (PEOP) Model (Baum et al., 2015). A phenomenological approach was employed to build a picture of understanding by gathering and recording information about context, insights, events, and influences on parent and infant occupational performance in the NICU. Qualitative methods were used to explore the concept of occupational and co- occupational performance …

Infant Eye Disease Research At Usu Gets Funding From Knights Templar | Biological Engineering, Usu College Of Engineering

College of Engineering News

6/1/2015 - TJ Robertson, right, Grand Commander, Grand Commandery, Knights Templar of Utah, presents Dr. Elizabeth Vargis with eye health research funding alongside College of Engineering Dean Christine Hailey and Robert Bennett, left, Deputy Grand Commander, Knights Templar of Utah.

Does Maternal Asthma Contribute To Racial/Ethnic Disparities In Obstetric And Neonatal Complications?, Katrina F. Flores, Candace Robledo, Beom Seuk Hwang, Kira Leishear, Katherine Grantz, Pauline Mendola

School of Medicine Publications and Presentations

Purpose

Examine whether maternal asthma contributes to racial/ethnic differences in obstetric and neonatal complications.

Methods

Data on White (n=110,603), Black (n=50,284) and Hispanic (n=38,831) singleton deliveries came from the Consortium on Safe Labor. Multi-level logistic regression models, with an interaction term for asthma and race/ethnicity, estimated within-group adjusted odds ratios (aOR) for gestational diabetes, gestational hypertension, preeclampsia, placental abruption, premature rupture of membranes, preterm delivery, maternal hemorrhage, NICU admissions, small for gestational age (SGA), apnea, respiratory distress syndrome, transient tachypnea of the newborn, anemia and hyperbilirubinemia after adjustment for clinical and demographic confounders. Non-asthmatics of the same racial/ethnic group were …

Genetic Heterogeneity Of Pseudoxanthoma Elasticum: The Chinese Signature Profile Of Abcc6 And Enpp1 Mutations., Liang Jin, Qiujie Jiang, Zhengsheng Wu, Changxia Shao, Yong Zhou, Luting Yang, Jouni Uitto, Gang Wang

Department of Dermatology and Cutaneous Biology Faculty Papers

Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian PXE patients. In a subset of 22 patients, we sequenced ABCC6 and another candidate gene, ENPP1, and conducted pathogenicity analyses for each variant. We identified a total of 17 distinct mutations in ABCC6, 15 of them being, to our knowledge, previously unreported, including 5 frameshift and 10 missense variants. In addition, a missense mutation in combination with a recurrent nonsense mutation in ENPP1 was …