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Carolina I. Galarreta Erin Hoyt Laura Forero Cynthia J. Curry Lynne M. Bird 《American journal of medical genetics. Part A》2023,191(11):2693-2702
VACTERL association is typically defined as the presence of three components among these birth defects: vertebral anomalies, anal atresia, cardiac anomalies, esophageal atresia/tracheoesophageal fistula (EA/TEF), renal anomalies, and limb defects. There is increasing recognition that VACTERL and other recurrent constellations of embryonic development often overlap clinically and might share pathogenesis. We conducted a comprehensive chart review of a large patient population with VACTERL association from two tertiary care centers in California. We included patients with incomplete VACTERL expression, which we denoted as “partial VACTERL” (pVACTERL). We assessed the occurrence of craniofacial (CF) findings in these two groups and the combined cohort. We collected data on potential risk factors and demographic information such as sex, Hispanic ancestry, pregnancy complications, and maternal age. The study included 409 participants, of whom 263 had VACTERL and 146 pVACTERL. CF abnormalities were found in 17.3% of VACTERL patients and 9.4% of pVACTERL patients. In the VACTERL group, ear anomalies were found in 10.2%, microtia in 5.9%, hearing loss (HL) in 13.90%, and orofacial clefts in 3.1%. In the pVACTERL group, ear anomalies were found in 7.2%, microtia in 5.0%, HL in 9.3%, and orofacial cleft in 2.2%. Maternal diabetes significantly increased the risk for HL in VACTERL (odds ratio [OR]: 3.71, 95% confidence interval [CI]: 1.5–7.3) and pVACTERL patients (OR: 6.7, 95% CI: 1.70–23.4). Poorly controlled maternal diabetes significantly increased the risk for all the outcomes in VACTERL patients including CF anomalies (OR: 4.2, 95% CI: 1.9–9.6), ear anomalies (OR: 4.7, 95% CI: 1.8–11.8), microtia (OR: 5.4, 95% CI: 1.7–16.6), and HL (OR: 8.1, 95% CI: 3.4–19.4). Twin status was significantly associated with the occurrence of microtia (p = 0.038) in VACTERL patients. Occurrence of CF features, particularly ear anomalies, microtia, and HL, might be considered as part of phenotypic diversity of VACTERL association. Diabetes and twinning might appear to play a role in increasing the risk for this phenotype in VACTERL association. 相似文献
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Mark Jacoby BS Daniel Gorenflo PhD Erin Black MSW Christine Wunderlich MSW A. Evan Eyler MD MPH 《American journal of preventive medicine》1999,16(4):76-321
CONTEXT: Rapid repeat pregnancy (RRP) among adolescents, usually defined as pregnancy onset within 12-24 months of the previous pregnancy outcome, has frequently been the target of public health interventions, due to the exacerbation of negative consequences associated with recurrent adolescent pregnancy (and more specifically with childbearing). OBJECTIVE: To examine what, if any, relationship exists between RRP and the experience of interpersonal violence and abuse among low-income adolescents at one semi-urban health center. DESIGN: Case-control study using retrospective chart review. PARTICIPANTS AND SETTING: 100 women aged 13-21 who received prenatal care at one independent nonprofit health center that serves adolescents and their children from June 1994 through June 1996. MAIN OUTCOME MEASURES: Number and timing of pregnancies, occurrence of physical or sexual abuse; other psychosocial risk factors were evaluated. RESULTS: In this population, the experience of any form of physical or sexual violence during the study interval was associated with RRP within 12 months (p = 0.01, OR = 3.46) and 18 months (p = 0.013, OR = 4.29). Other previously reported predictors of RRP, including family stress, financial stress, and other environmental stressors did not reach statistical significance at either 12 months or 18 months in this sample. Of additional note, young women who experienced any form of abuse during the 12-month study interval were substantially more likely to miscarry than were their nonabused peers, and spontaneous abortion was also very strongly associated with RRP (p < 0.00001; OR = 22.6). CONCLUSIONS: The experience of interpersonal violence is correlated with rapid repeat pregnancy among low-income adolescents. This study strongly suggests a need for both extensive screening for partner and family violence among pregnant and postpartum adolescents, and follow-up safety planning support in combination with family planning interventions. 相似文献
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