Paul A. Romitti
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View article: Evolving incidence patterns for locally advanced operable breast cancer by receptor status: SEER 2010–2021
Evolving incidence patterns for locally advanced operable breast cancer by receptor status: SEER 2010–2021 Open
Tumor biologic risk has replaced anatomic disease burden for guiding chemotherapy use in HR-positive, early-stage breast cancer. Recent surgical trials support less frequent axillary lymph node dissection, potentially impacting incidence o…
View article: Trends in Corticosteroid Use Among Males With Duchenne Muscular Dystrophy (DMD) During 2000-2015: Data From the MD STAR <i>net</i>
Trends in Corticosteroid Use Among Males With Duchenne Muscular Dystrophy (DMD) During 2000-2015: Data From the MD STAR <i>net</i> Open
This study updates previous reports by the population-based Muscular Dystrophy Surveillance, Tracking and Research Network on associations between increased corticosteroid use over time, and delayed use of corticosteroids among non-Hispani…
View article: Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases
Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases Open
Aim Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co‐occurring malformations, and temporal trends of CDH over nearly three decades. Metho…
View article: Maternal Age at Birth and Gastroschisis Prevalence in the United States and Puerto Rico, 2000-2020
Maternal Age at Birth and Gastroschisis Prevalence in the United States and Puerto Rico, 2000-2020 Open
Gastroschisis—a congenital anomaly where there is an opening at the connection of the embryonic ectoderm and the amnion at the pars flaccida, resulting in the intestines protruding outside the body—is serious and requires surgical repair. …
View article: Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network Open
Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with select…
View article: Influenza vaccination during early pregnancy and risk of major birth defects, US Birth Defects Study To Evaluate Pregnancy exposureS, 2014–2019
Influenza vaccination during early pregnancy and risk of major birth defects, US Birth Defects Study To Evaluate Pregnancy exposureS, 2014–2019 Open
View article: Maternal Age Differences in Interpregnancy Interval and Preterm Birth Associations Accounting for Multiple Epidemiologic Biases
Maternal Age Differences in Interpregnancy Interval and Preterm Birth Associations Accounting for Multiple Epidemiologic Biases Open
Background People who recently gave birth are strongly advised to wait 6 months before attempting pregnancy. Interpregnancy intervals ( IPI ) of ≥ 18 months are considered optimal. Current guidance is not tailored based on maternal charact…
View article: Incidence trends and risk factors for Perthes’ disease in children born between 1985 and 2016
Incidence trends and risk factors for Perthes’ disease in children born between 1985 and 2016 Open
Aims In this study, we aimed to evaluate incidence trends and potential risk factors associated with Perthes’ disease in Denmark, using publicly available data. Methods Our population-based case-control study used data from the Danish Nati…
View article: Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy
Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy Open
Introduction/Aims Prophylactic treatment of left ventricular dysfunction (LVD) in Duchenne muscular dystrophy (DMD) delays onset of LVD, but there is limited data showing impact on survival. Our aim was to describe survival among treated a…
View article: Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997–2021
Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997–2021 Open
Purpose Omphalocele is a congenital abdominal wall defect associated with a high risk of morbidity and mortality, with co-occurring congenital malformations often being the most important prognostic factor. High rates of spontaneous and me…
View article: Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study
Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study Open
Background Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and …
View article: Maternal Exposure to Tap Water Disinfection By‐Products and Risk of Selected Congenital Heart Defects
Maternal Exposure to Tap Water Disinfection By‐Products and Risk of Selected Congenital Heart Defects Open
Background The use of chlorine to treat drinking water produces disinfection by‐products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies. Methods Using National Birth Defects Prevention Study data, w…
View article: Rare variants analyses suggest novel cleft genes in the African population
Rare variants analyses suggest novel cleft genes in the African population Open
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been imp…
View article: Maternal periconceptional exposure to drinking water disinfection by‐products and neural tube defects in offspring
Maternal periconceptional exposure to drinking water disinfection by‐products and neural tube defects in offspring Open
Background Associations between maternal periconceptional exposure to disinfection by‐products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. Methods Ma…
View article: Multiple Job Holding, Job Changes, and Associations with Gestational Diabetes and Pregnancy-Related Hypertension in the National Birth Defects Prevention Study
Multiple Job Holding, Job Changes, and Associations with Gestational Diabetes and Pregnancy-Related Hypertension in the National Birth Defects Prevention Study Open
We used National Birth Defects Prevention Study data to investigate associations between working patterns shortly before and during pregnancy and gestational diabetes and pregnancy-related hypertension. We analyzed working patterns (multip…
View article: Shared genetic risk between major orofacial cleft phenotypes in an African population
Shared genetic risk between major orofacial cleft phenotypes in an African population Open
Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%–80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Althou…
View article: Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428 Open
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS…
View article: Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants Open
The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child–parent trios, one child–mother…
View article: Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997–2011
Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997–2011 Open
Background: Neural tube defects (NTD)s are common birth defects with a multifactorial etiology. Findings from human studies examining environmental (non-inherited) exposures tend to be inconclusive. In particular, although animal studies o…
View article: A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study
A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study Open
Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic sus…
View article: Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Open
Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a bi…
View article: Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002
Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002 Open
Background: Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring using data from a lar…
View article: Exome sequencing identifies variants in infants with sacral agenesis
Exome sequencing identifies variants in infants with sacral agenesis Open
Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one h…
View article: Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children Open
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for…
View article: Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach Open
Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal gen…
View article: Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia Open
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinic…
View article: Rare Variants Analyses Suggest Novel Cleft Genes in the African Population
Rare Variants Analyses Suggest Novel Cleft Genes in the African Population Open
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFC. Rare variants have been impl…
View article: Modeling complex effects of exposure to particulate matter and extreme heat during pregnancy on congenital heart defects: A U.S. population-based case-control study in the National Birth Defects Prevention Study
Modeling complex effects of exposure to particulate matter and extreme heat during pregnancy on congenital heart defects: A U.S. population-based case-control study in the National Birth Defects Prevention Study Open
View article: Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits Open
Our findings support a polygenic nature of cNCS risk and functional role of craniofacial enhancers in cNCS susceptibility with potential broader implications for bone health.
View article: Bias analyses to investigate the impact of differential participation: Application to a birth defects case‐control study
Bias analyses to investigate the impact of differential participation: Application to a birth defects case‐control study Open
Background Certain associations observed in the National Birth Defects Prevention Study (NBDPS) contrasted with other research or were from areas with mixed findings, including no decrease in odds of spina bifida with periconceptional foli…