VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive clinical, laboratory and genetic findings of two offspring from consanguineous parents, with ages of disease onset at 57 and 49 with VPS13D-based ataxia. Although conventional magnetic resonance imaging showed mild cerebellar and cerebral atrophy, diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts. Whole exome sequencing analysis revealed a biallelic Ala4210Val mutation in the VPS13D, reported only once in the literature. Complementary screening of our in-house database consisting of 295 ataxia and hereditary spastic paraplegia patients revealed two further ataxia patients with novel VPS13D variants. Screening the control cohort for VPS13D variants revealed one asymptomatic individual carrying a novel VPS13D variant. In this study, the phenotypic spectrum of VPS13D-based disease is expanded with the description of pre-senile onset predominant ataxia. Further, with the additional novel mutations described, the report is expected to contribute to the understanding of the yet elusive phenotype-genotype correlations in the rare VPS13D-based movement disorder.

A comparison of piezosurgery with conventional techniques for internal osteotomy.

To compare conventional osteotomy with the piezosurgery medical device, in terms of postoperative edema, ecchymosis, pain, operation time, and mucosal integrity, in rhinoplasty patients. In this prospective study, 49 rhinoplasty patients were randomly divided into two groups according to osteotomy technique used, either conventional osteotomy or piezosurgery. For all patients, the total duration of the operation was recorded, and photographs were taken and scored for ecchymosis and edema on postoperative days 2, 4, and 7. In addition, pain level was evaluated on postoperative day 2, and mucosal integrity was assessed on day 4. All scoring and evaluation was conducted by a physician who was blinded to the osteotomy procedure. In the piezosurgery group, edema scores on postoperative day 2 and ecchymosis scores on postoperative days 2, 4, and 7 were significantly lower than in the conventional osteotomy group (p < 0.05). On postoperative day 2, the pain level was lower in the piezosurgery group than in the conventional osteotomy group (p < 0.05). In an endoscopic examination on postoperative day 4, while 24% of the patients in the conventional osteotomy group had mucosal damage, no such damage was observed in the piezosurgery group. When total operation duration was compared, there was no significant difference between the groups (p > 0.05). Piezosurgery is a safe osteotomy method, with less edema (in the early postoperative period) and ecchymosis compared with conventional osteotomy, as well as less pain, a similar operation duration, and no mucosal damage.