Human organoids for rapid validation of gene variants linked to cochlear malformations.

Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.

Multimodal Interaction in Collaborative Design of a Healthcare Space: A Social Semiotic Approach.

In professional interactive practices, space, time, human bodies, and material objects as well as written and oral language are dynamically implicated in a multimodal co-construction of meaning. A healthcare space - an operating room - is a typical example of such a social-semiotic, multimodal arrangement of communication modes which impacts the practices that are played out therein. Therefore, in designing healthcare spaces, it is important to allow for proactive inclusion and engagement of the categories of professionals who carry out their daily work in these spaces.

Turkish Society of Gastroenterology: Pancreas Working Group, Acute Pancreatitis Committee Consensus Report.

Acute pancreatitis (AP) is a clinical condition that arises acutely in the pancreas through various inflammatory pathways due to multiple causes. Turkish Society of Gastroenterology Pancreas Working Group developed comprehensive guidance statements regarding the management of AP that include its epidemiology, etiology, clinical presentation, diagnostic criteria, disease severity, treatment, prognosis, local and systemic complications. The statements were developed through literature review, deliberation, and consensus opinion.

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.

To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for variants, , , , and .