To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy DMD or Becker ...muscular dystrophy BMD).
In 2002, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to conduct longitudinal, population-based surveillance and research of DBMD in the United States. Six sites conducted active, multiple-source case finding and record abstraction to identify MD STARnet cases born January 1982 to December 2011. We used cross-sectional analyses to estimate prevalence of DBMD per 10 000 boys, ages 5 to 9 years, for 4 quinquennia (1991-1995, 1996-2000, 2001-2005, and 2006-2010) and prevalence per 10 000 male individuals, ages 5 to 24 years, in 2010. Prevalence was also estimated by race/ethnicity and phenotype.
Overall, 649 cases resided in an MD STARnet site during ≥1 quinquennia. Prevalence estimates per 10 000 boys, ages 5 to 9 years, were 1.93, 2.05, 2.04, and 1.51, respectively, for 1991-1995, 1996-2000, 2001-2005, and 2006-2010. Prevalence tended to be higher for Hispanic individuals than non-Hispanic white or black individuals, and higher for DMD than BMD. In 2010, prevalence of DBMD was 1.38 per 10 000 male individuals, ages 5 to 24 years.
We present population-based prevalence estimates for DBMD in 6 US sites. Prevalence differed by race/ethnicity, suggesting potential cultural and socioeconomic influences in the diagnosis of DBMD. Prevalence also was higher for DMD than BMD. Continued longitudinal surveillance will permit us to examine racial/ethnic and socioeconomic differences in treatment and outcomes for MD STARnet cases.
Epidemiology of De Novo Metastatic Breast Cancer Daily, Karen; Douglas, Emily; Romitti, Paul A. ...
Clinical breast cancer,
August 2021, 2021-08-00, 20210801, Letnik:
21, Številka:
4
Journal Article
Recenzirano
Most cases of metastatic breast cancer (MBC) arise as a recurrence of a previously treated early breast cancer. Distinct from recurrent MBC is de novo MBC (dnMBC), which describes patients who ...present with distant sites of disease at initial diagnosis and is reviewed here. dnMBC represents approximately 3% to 6% of new breast cancer diagnoses in high-income countries. This incidence has not declined despite decades of widespread use of population-based mammography screening. Overrepresentation of both biologically aggressive tumors and patients negatively impacted by social determinants of health are characteristics of dnMBC. Survival has generally been superior for patients with dnMBC compared with those with recurrent MBC, although it is similar to that for patients with recurrent MBC with long disease-free intervals. Subgroups of patients with dnMBC who experience prolonged survival include those with human epidermal growth factor receptor-2–positive disease or hormone receptor–positive bone-only disease. Opportunities to decrease dnMBC presentation may include novel screening modalities suited for biologically aggressive breast tumors and improved access to health care. Recognizing that there will remain some women diagnosed with dnMBC, refining our ability to identify those likely to be long-term survivors could allow for appropriate escalation or de-escalation of care. Finally, evaluation of tumor genomics in robust sample sizes has the potential to advance our knowledge of the biology of dnMBC as an entity distinct from recurrent MBC.
Background While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is ...no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. Objective We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects. Study Design The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. We selected cases from birth defect groups having >100 total cases, as well as all nonmalformed controls (10,200), from delivery years 1997 through 2009; 44 birth defects were examined. After excluding cases and controls from multiple births and whose mothers reported active smoking or pregestational diabetes, we analyzed data on periconceptional secondhand smoke exposure–encompassing the period 1 month prior to conception through the first trimester. For the birth defect craniosynostosis, we additionally examined the effect of exposure in the second and third trimesters as well due to the potential sensitivity to teratogens for this defect throughout pregnancy. Covariates included in all final models of birth defects with ≥5 exposed mothers were study site, previous live births, time between estimated date of delivery and interview date, maternal age at estimated date of delivery, race/ethnicity, education, body mass index, nativity, household income divided by number of people supported by this income, periconceptional alcohol consumption, and folic acid supplementation. For each birth defect examined, we used logistic regression analyses to estimate both crude and adjusted odds ratios and 95% confidence intervals for both isolated and total case groups for various sources of exposure (household only; workplace/school only; household and workplace/school; household or workplace/school). Results The prevalence of secondhand smoke exposure only across all sources ranged from 12.9–27.8% for cases and 14.5–15.8% for controls. The adjusted odds ratios for any vs no secondhand smoke exposure in the household or workplace/school and isolated birth defects were significantly elevated for neural tube defects (anencephaly: adjusted odds ratio, 1.66; 95% confidence interval, 1.22–2.25; and spina bifida: adjusted odds ratio, 1.49; 95% confidence interval, 1.20–1.86); orofacial clefts (cleft lip without cleft palate: adjusted odds ratio, 1.41; 95% confidence interval, 1.10–1.81; cleft lip with or without cleft palate: adjusted odds ratio, 1.24; 95% confidence interval, 1.05–1.46; cleft palate alone: adjusted odds ratio, 1.31; 95% confidence interval, 1.06–1.63); bilateral renal agenesis (adjusted odds ratio, 1.99; 95% confidence interval, 1.05–3.75); amniotic band syndrome-limb body wall complex (adjusted odds ratio, 1.66; 95% confidence interval, 1.10–2.51); and atrial septal defects, secundum (adjusted odds ratio, 1.37; 95% confidence interval, 1.09–1.72). There were no significant inverse associations observed. Conclusion Additional studies replicating the findings are needed to better understand the moderate positive associations observed between periconceptional secondhand smoke and several birth defects in this analysis. Increased odds ratios resulting from chance (eg, multiple comparisons) or recall bias cannot be ruled out.
Birth defects are an increasing health priority worldwide, and the subject of a major 2010 World Health Assembly Resolution. Excess cancer risk may be an added burden in this vulnerable group of ...children, but studies to date have provided inconsistent findings. This study assessed the risk for cancer in children and young adolescents with major birth defects.
This retrospective, statewide, population-based, cohort study was conducted in three US states (Utah, Arizona, Iowa). A cohort of 44,151 children and young adolescents (0 through 14 years of age) with selected major, non-chromosomal birth defects or chromosomal anomalies was compared to a reference cohort of 147,940 children without birth defects randomly sampled from each state's births and frequency matched by year of birth. The primary outcome was rate of cancer prior to age 15 years, by type of cancer and type of birth defect. The incidence of cancer was increased 2.9-fold (95% CI, 2.3 to 3.7) in children with birth defects (123 cases of cancer) compared to the reference cohort; the incidence rates were 33.8 and 11.7 per 100,000 person-years, respectively. However, the excess risk varied markedly by type of birth defect. Increased risks were seen in children with microcephaly, cleft palate, and selected eye, cardiac, and renal defects. Cancer risk was not increased with many common birth defects, including hypospadias, cleft lip with or without cleft palate, or hydrocephalus.
Children with some structural, non-chromosomal birth defects, but not others, have a moderately increased risk for childhood cancer. Information on such selective risk can promote more effective clinical evaluation, counseling, and research.
Primary breast lymphoma (PBL) has gained attention with the description of breast implant-associated anaplastic large cell lymphoma (ALCL). Less is known about PBL incidence, treatment, and survival ...by lymphoma subtype.
The Surveillance, Epidemiology, and End Results (SEER) registry database was queried for patients with PBL as first malignancy, with attention to non-Hodgkin Lymphoma PBL subtypes: diffuse large B-cell lymphoma (DLBCL), follicular lymphoma, marginal zone lymphoma (MZL), and ALCL. Incidence was estimated by age and subtype with joinpoint analyses, along with initial local therapy. Five-year relative and overall survival estimates were compared using z and two-sided log-rank tests.
PBL incidence (per 1 000 000 women) increased from 0.66 (1975-1977) to 2.96 (2011-2013) with an annual percentage change (APC) of 5.3% (95% confidence interval CI = 3.8% to 6.9%, P < .001) from 1975 to 1999 and no statistically significant change thereafter. Incidence continues to increase for women younger than age 50 years (APC = 2.8%, 95% CI = 1.0% to 4.6%, P = .003) and for ALCL-PBL (APC = 11.8%, 95% CI = 0.2% to 24.9%, P = .047) and MZL-PBL (APC = 2.3%, 95% CI = -0.2% to 4.9%, P = .07), with the latter increasing significantly from 1995 to 2013 (APC = 7.5%, 95% CI = 3.4% to 11.8%, P = .001). Surgery and surgery with radiation declined from 2000 to 2013 as initial local therapy for PBL. Five-year relative survival for PBL improved markedly over four decades and was superior for stage I DLBCL-PBL and stage I follicular PBL than for corresponding systemic presentations.
PBL has increased in incidence over the last four decades and continues to increase for younger women and for some subtypes. The rise in imaging and procedures to the breast might enhance diagnostic sensitivity for PBL. Further study of the etiologies of PBL is needed.
Objective To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history. Study design The cohort comes from the Muscular Dystrophy Surveillance, ...Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker muscular dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
Background More intense and longer-lasting heat events are expected in the United States as a consequence of climate change. This study aimed to project the potential changes in maternal heat ...exposure during early pregnancy (3-8 weeks post conception) and the associated burden of congenital heart defects ( CHD s) in the future. Methods and Results This study expanded on a prior nationwide case-control study that evaluated the association between CHD s and maternal heat exposure during early pregnancy in summer and spring. We defined multiple indicators of heat exposure, and applied published odds ratios obtained for the matching season of the baseline (1995-2005) into the projection period (2025-2035) to estimate potential changes in CHD burden throughout the United States. Increases in maternal heat exposure were projected across the United States and to be larger in the summer. The Midwest will potentially have the highest increase in summer maternal exposure to excessively hot days (3.42; 95% CI, 2.99-3.88 per pregnancy), heat event frequency (0.52; 95% CI, 0.44-0.60) and heat event duration (1.73; 95% CI, 1.49-1.97). We also found large increases in specific CHD subtypes during spring, including a 34.0% (95% CI, 4.9%-70.8%) increase in conotruncal CHD in the South and a 38.6% (95% CI , 9.9%-75.1%) increase in atrial septal defect in the Northeast. Conclusions Projected increases in maternal heat exposure could result in an increased CHD burden in certain seasons and regions of the United States.
Previous studies of academic achievement of children with oral clefts have mostly relied on small, clinic-based samples prone to ascertainment bias. In the first study in the United States to use a ...population-based sample with direct assessment, we evaluated the academic achievement of children with oral clefts relative to their classmates.
Children born with isolated oral clefts in Iowa from 1983 to 2003 were identified from the Iowa Registry for Congenital and Inherited Disorders and matched to unaffected classmates by gender, school/school district, and month and year of birth. Academic achievement was assessed by using standardized tests of academic progress developed by the Iowa Testing Programs. Iowa Testing Programs data were linked to birth certificates for all children. Regression models controlled for household demographic and socioeconomic factors. The analytical sample included 588 children with clefts contributing 3735 child-grade observations and 1874 classmates contributing 13 159 child-grade observations.
Children with oral clefts had lower scores than their classmates across all domains and school levels, with a 5-percentile difference in the overall composite score. Children with clefts were approximately one-half grade level behind their classmates and had higher rates of academic underachievement and use of special education services by 8 percentage points. Group differences were slightly lower but remained large and significant after adjusting for many background characteristics.
Children with oral clefts underperformed across all academic areas and grade levels compared with their classmates. The results support a model of early testing and intervention among affected children to identify and reduce academic deficits.
To compare birth and early developmental screening outcomes for infants with and without in utero cannabis exposures.
Observational cohort of women receiving prenatal care within a large health ...system, live birth between October 1, 2015 and December 1, 2017, and at least one infant visit. Cannabis exposure was through routine urine toxicology screen. Preterm birth, small for gestational age (SGA) birth, birth defects, and early developmental screening outcomes were assessed from birth and electronic health record data.
Of 3435 women, 283 (8.2%) had a positive urine toxicology screen. In utero cannabis exposure was associated with SGA birth, adjusted rate ratio (aRR) 1.69 (95% confidence interval CI: 1.22-2.34). Abnormal 12-month developmental screens occurred in 9.1% of infants with in utero cannabis exposure vs. 3.6% of those with negative maternal screens, aRR 1.90 (95% CI: 0.92-3.91). Additional birth outcomes were not associated with in utero cannabis exposure.
Exposure to cannabis during pregnancy may adversely impact fetal growth.
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 genetic variants or environmental exposures and risk of OHDs. We examined parent-of-origin effects in transmission of alleles in the folate, homocysteine, or transsulfuration pathway genes on OHD occurrence in offspring. We used data on 569 families of liveborn infants with OHDs born between October 1997 and August 2008 from the National Birth Defects Prevention Study to conduct a family-based case-only study. Maternal, paternal, and infant DNA were genotyped using an Illumina Golden Gate custom single nucleotide polymorphism (SNP) panel. Relative risks (RR), 95% confidence interval (CI), and likelihood ratio tests from log-linear models were used to estimate the parent-of-origin effect of 877 SNPs in 60 candidate genes in the folate, homocysteine, and transsulfuration pathways on the risk of OHDs. Bonferroni correction was applied for multiple testing. We identified 3 SNPs in the transsulfuration pathway and 1 SNP in the folate pathway that were statistically significant after Bonferroni correction. Among infants who inherited paternally-derived copies of the G allele for rs6812588 in the RFC1 gene, the G allele for rs1762430 in the MGMT gene, and the A allele for rs9296695 and rs4712023 in the GSTA3 gene, RRs for OHD were 0.11 (95% CI: 0.04, 0.29, P = 9.16x10-7), 0.30 (95% CI: 0.17, 0.53, P = 9.80x10-6), 0.34 (95% CI: 0.20, 0.57, P = 2.28x10-5), and 0.34 (95% CI: 0.20, 0.58, P = 3.77x10-5), respectively, compared to infants who inherited maternally-derived copies of the same alleles. We observed statistically significant decreased risk of OHDs among infants who inherited paternal gene variants involved in folate and transsulfuration pathways.
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