Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants.

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

Objective: To determine the frequency of chromosomal aberrations in chorions after a miscarriage. The second was to examine selected euploid chorions using a next-generation sequencing (NGS) panel designed to assess 43 genes associated with pregnancy loss.

Materials And Methods: The 1244 chorions were tested by targeted quantitative fluorescent PCR (QF-PCR, 827 chorions) and microarray-based comparative genomic hybridization (aCGH, 417 chorions).

Cholangiocarcinoma, sequential chemotherapy, and prognostic tests.

Introduction: Routine blood tests are prognostic tests for patients with cholangiocarcinoma. New drug regimens may produce a median overall survival of 2 years or more.

Methods: This single practice, IRB-approved, phase II trial examines prognostic tests, Kaplan-Meier survival, and univariate Cox regression analyses.

Fracture related infection and sepsis in orthopedic trauma: A review.

Trauma is a leading cause of death in the United States for people under 45. Amongst trauma-related injuries, orthopedic injuries represent a significant component of trauma-related morbidity. In addition to the potential morbidity and mortality secondary to the specific traumatic injury or injuries sustained, sepsis is a significant cause of morbidity and mortality in trauma patients as well, and infection related to orthopedic trauma can be especially devastating.

Immediate plate fixation of open tibial plafond fractures does not elevate risk of infection.

Objective: To determine if immediate plate fixation of open tibial plafond fractures has a negative effect on soft tissue complications and increases the risk of deep infection.

Design: This was a single-institution retrospective cohort study performed at level-1 trauma center. All patients with open OTA/AO 43C plafond fractures treated over 20-year period with follow-up until fracture union or development of deep infection.