No abstract

Clinicians must keep in mind the factors related to non-adherence in order to achieve better treatment outcomes. Therefore, based on our results, patients must be informed that medications should be taken properly regardless of the benefit, and the treatment should be scheduled with respect to daily activities, particularly for patients caring for more than two children.

Objective In the management of facial nerve schwannoma (FNS), surgical tumor resection is now often being replaced with more conservative approaches, such as observation with serial imaging or stereotactic radiosurgery (SRS). Given the scarcity of these lesions, determining the optimal management of FNS remains challenging and subject of debate with multiple treatment approaches supported in the literature. Methods A retrospective chart review was performed in two academic centers for patients diagnosed with FNS between 1996 and 2017. The clinical presentation, treatment modalities employed, tumor control rates, and facial nerve function (FNF) outcomes (House–Brackmann system) were assessed and analyzed. Results The study comprised 50 adult patients. Initial treatment modalities included observation with serial clinicoradiologic review in 27 patients (54%), surgery in 17 patients (34%), and SRS in 6 patients (12%). The FNF were decreased in more than half of the patients who had surgery. Nonetheless, more than 80% of the patients who were initially managed with observation or SRS had stable or improved FNF. Conclusion A prevailing trend toward more conservative treatment modalities for FNS has evolved over time, providing relatively long-term preservation of FNF. As there are multiple management options available, it is of paramount importance that the treating physician be familiar with all treatment modalities and outcomes and counsel patients appropriately. The surgery should be reserved for large tumors and poor FNF at initial presentation or follow-up while watchful observation with imaging is the treatment of choice for rest of the patients.

No abstract

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.