New insights on the clinical variability of FKBP10 mutations.

To date 45 autosomal recessive disease-causing variants are reported in the FKBP10 gene. Those variant were found to be associated with Osteogenesis Imperfecta (OI) for which the hallmark phenotype is bone fractuers or Bruck Syndrome (BS) where bone fractures are accompanied with contractures. In addition, a specific homozygous FKBP10 mutation (p.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Background: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures.

Methods: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes.

Ureteroscopy with conscious sedation for distal ureteric calculi: 10-year experience.

Introduction: Distal ureteroscopy for stone extraction is a common procedure that is generally performed with spinal or general anesthesia. We retrospectively reviewed all distal ureteroscopy performed for ureteric stone extraction with conscious sedation at our institution over a 10-year period to determine its efficacy and safety.

Methods: A retrospective chart review was performed of all distal ureteroscopy performed for calculus removal from 2004 to 2014.

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

An extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish the CFTR mutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population. We used a targeted Next Generation Sequencing approach to sequence the entire coding region and the adjacent sequences of the CFTR gene combined with MLPA analysis of 60 unrelated CF patients. Eighteen different CF-causing mutations, including one previously undescribed mutation p.

Renal primitive neuroectodermal tumour: Case series and brief review.

Renal primitive neuroectodermal tumor is a rare malignancy. These tumours rarely present with caval involvement. We report 2 cases of primitive neuroectodermal tumours (PNETs) with inferior vena cava involvement.