دورية أكاديمية

Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population.

التفاصيل البيبلوغرافية
العنوان: Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population.
المؤلفون: Ramírez-Rosete, Judit A., Hurtado-Vazquez, Alonso, Miranda-Duarte, Antonio, Peralta-Cruz, Sergio, Cuevas-Olivo, Ramiro, Martínez-Junco, José Antonio, Sevilla-Montoya, Rosalba, Rivera-Paredez, Berenice, Velázquez-Cruz, Rafael, Valdes-Flores, Margarita, Rangel-Escareno, Claudia, Alanis-Funes, Gerardo J., Abad-Azpetia, Laura, Grimaldo-Galeana, Sacnicte G., Santamaría-Olmedo, Monica G., Hidalgo-Bravo, Alberto
المصدر: Diagnostics (2075-4418); May2024, Vol. 14 Issue 9, p898, 13p
مصطلحات موضوعية: SINGLE nucleotide polymorphisms, CONGENITAL hip dislocation, DYSPLASIA, FETAL presentation, YOUNG adults, TRANSFORMING growth factors-beta, LOGISTIC regression analysis
مستخلص: Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55–17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2–4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55–6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12–6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27–0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:20754418
DOI:10.3390/diagnostics14090898