Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.

We generated two human induced pluripotent cell (hiPSC) isogenic clones from an 11-year-old patient with 6q27 deletion syndrome. The heterozygous deletion encompasses approximately 240 kilobases, affecting 6 genes (promoter region of WDR27, coding regions of C6orf120, PHF10, DYNLT2, ERMARD, LINC00242). The patient suffered from epilepsy, psychosocial retardation, and a metabolic disorder.

Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.

Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects in the central nervous system have also been described. Although ELP1 expression remains high in the normal developing and adult cerebellum, its role in cerebellar development is unknown.

Predictive modeling of resistance to SMO inhibition in a patient-derived orthotopic xenograft model of SHH medulloblastoma.

Background: Inhibition of the sonic hedgehog (SHH) pathway with Smoothened (SMO) inhibitors is a promising treatment strategy in SHH-activated medulloblastoma, especially in adult patients. However, the problem is that tumors frequently acquire resistance to the treatment. To understand the underlying resistance mechanisms and to find ways to overcome the resistance, preclinical models that became resistant to SMO inhibition are needed.

Safety of a Modified Lipoabdominoplasty Technique for Donor-Site Closure in Abdominal-Based Free Flap Breast Reconstruction.

Background: The aesthetic and functional outcomes of the donor site following abdominal-based free flap breast reconstruction have been suboptimal. The objective of this study is to evaluate a modified liposuction-assisted abdominoplasty technique combined with rectus plication (LPARSP) adopted from cosmetic abdominoplasty practice.

Patients And Methods: All abdominal-based free flap breast reconstructions from 01/2017 to 03/2019 were reviewed.

The Use of Semi-Absorbable Mesh and its Impact on Donor-Site Morbidity and Patient-Reported Outcomes in DIEP Flap Breast Reconstruction.

Background: This study aimed to evaluate the impact of semi-absorbable mesh on donor-site morbidity and patient-reported outcomes in deep inferior epigastric perforator (DIEP) flap breast reconstruction.

Methods: We conducted a retrospective cohort study of all patients who had DIEP flap breast reconstruction in our department from July 2007 to March 2019. Patients were invited to a comparative follow-up visit and grouped according to donor-site closure: primary fascial closure (the no-mesh group) and fascial reinforcement with semi-absorbable mesh in a subfascial position (the mesh group).