Identifying Risk Factors for Disease Progression in Developmental Dysplasia of the Hip Using a Contralateral Hip Model.

Background: Developmental dysplasia of the hip (DDH) can cause pain and premature osteoarthritis. The risk factors and timing for disease progression in adolescents and young adults have not been fully defined. This study aimed to determine the prevalence of and risk factors for contralateral hip pain and surgery after periacetabular osteotomy (PAO) on a dysplastic hip.

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved our understanding of the contribution of these complex alleles to the wide spectrum of CF clinical symptoms and to the response to medications.

Relationships between serotonin 1A receptor DNA methylation, self-reported history of childhood abuse and gray matter volume in major depression.

Background: Early life adversity is a risk factor for psychopathology and is associated with epigenetic alterations in the 5-HT receptor gene promoter. The 5-HT receptor mediates neurotrophic effects, which could affect brain structure and function. We examined relationships between self-reported early childhood abuse, 5-HT receptor promoter DNA methylation, and gray matter volume (GMV) in Major Depressive Disorder (MDD).

Assessment of extremely premature lambs supported by the Extrauterine Environment for Neonatal Development (EXTEND).

Background: Our team has previously reported physiologic support by the EXTra-uterine Environment for Neonatal Development (EXTEND) of 105 to 117 days gestational age (GA) lambs for up to 28 days with normal organ maturation. However, the fetal lamb brain matures more rapidly, requiring the study of 90-105 day GA fetal lambs to assess more neurodevelopmentally equivalent lambs to the 23-25 week GA extreme premature infant.

Methods: Extremely preterm lambs (90-95 days of GA) were delivered by C-section and supported by EXTEND.

T2-FLAIR Mismatch Sign Predicts DNA Methylation Subclass and CDKN2A/B Status in IDH-Mutant Astrocytomas.

Purpose: DNA methylation profiling stratifies isocitrate dehydrogenase (IDH)-mutant astrocytomas into methylation low- and high-grade groups. We investigated the utility of the T2-fluid-attenuated inversion recovery (T2-FLAIR) mismatch sign for predicting DNA methylation grade and cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) homozygous deletion, a molecular biomarker for grade 4 IDH-mutant astrocytomas, according to the 2021 World Health Organization classification.

Experimental Design: Preoperative MRI scans of IDH-mutant astrocytomas subclassified by DNA methylation profiling (n = 71) were independently evaluated by two radiologists for the T2-FLAIR mismatch sign.