This retrospective study aimed to describe the characteristics of cancer patients undergoing depression and distress screening at the Sidney Kimmel Cancer Center and to assess factors associated with their screening results. Data were retrieved from electronic medical records of adult Sidney Kimmel Cancer Center patients with at least one oncology encounter between January 2021 and June 2022, who underwent both depression and distress screening using the Patient Health Questionnaire-2/9 for depression and the National Comprehensive Cancer Network distress thermometer for distress during the encounter. Demographics, clinical factors, and screening results were analyzed using descriptive statistics and binary logistic regression.
View Article and Find Full Text PDFPurpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.
Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.
View Article and Find Full Text PDF