Achondroplasia and severe sensorineural hearing loss: The role of active bone conduction implants.

The BONEBRIDGE is a partially implantable, transcutaneous bone conduction device that can be used to treat conductive or mixed mild-to-moderate hearing loss in patients who do not attain sufficient improvement from conventional hearing aids. The following case report describes sequential bilateral BONEBRIDGE implantation in a 25-year-old patient with achondroplasia and bilateral mixed-hearing loss with a significant sensorineural component in the setting of chronic suppurative otitis media. Although the patient did not meet the approved BONEBRIDGE criteria, implantation was successful with improvements in audiological outcomes and self-reported quality of life. There were no reported complications at 5-years post-implantation.

Metastatic mammary carcinoma to the orbit masquerading as maxillary sinusitis.

INTRODUCTION: We report on a case of isolated metastatic breast cancer to the medial rectus muscle. This entity is exceedingly rare. CASE: A 44-year-old female with a history of breast cancer presented with unilateral maxillary symptoms and was treated for sinusitis. Over time, she developed ocular pain, diplopia, blurred vision and eventually complete adduction deficit. RESULTS: T1-weighted magnetic resonance imaging revealed a medial rectus lesion. Biopsy via transnasal transorbital endoscopic approach revealed metastatic mammary carcinoma. DISCUSSION: Metastatic disease to the orbit should be considered in the differential diagnosis of refractory maxillary sinus pain in patients with a known underlying malignancy.

Silencing of the Fibroblast growth factor 21 gene is an underlying cause of acinar cell injury in mice lacking MIST1.

Fibroblast growth factor 21 (FGF21) is a key regulator of metabolism under conditions of stress such as starvation, obesity, and hypothermia. Rapid induction of FGF21 is also observed in experimental models of pancreatitis, and FGF21 reduces tissue damage observed in these models, suggesting a nonmetabolic function. Pancreatitis is a debilitating disease with significant morbidity that greatly increases the risk of pancreatic ductal adenocarcinoma. The goals of this study were to examine the regulation and function of FGF21 in acinar cell injury, specifically in a mouse model of pancreatic injury (Mist1(-/-)). Mist1(-/-) mice exhibit acinar cell disorganization, decreased acinar cell communication and exocytosis, and increased sensitivity to cerulein-induced pancreatitis (CIP). Examination of Fgf21 expression in Mist1(-/-) mice by qRT-PCR, Northern blot, and Western blot analyses showed a marked decrease in pancreatic Fgf21 expression before and after induction of CIP compared with C57Bl/6 mice. To determine whether the loss of FGF21 accounted for the Mist1(-/-) phenotypes, we generated Mist1(-/-) mice overexpressing human FGF21 from the ApoE promoter (Mist1(-/-)ApoE-FGF21). Reexpression of FGF21 partially mitigated pancreatic damage in Mist1(-/-) tissue based on reduced intrapancreatic enzyme activation, reduced expression of genes involved in fibrosis, and restored cell-cell junctions. Interestingly, alteration of Fgf21 expression in Mist1(-/-) tissue was not simply due to a loss of direct transcriptional regulation by MIST1. Chromatin immunopreciptation indicated that the loss of Fgf21 in the Mist1(-/-) pancreas is due, in part, to epigenetic silencing. Thus, our studies identify a new role for FGF21 in reducing acinar cell injury and uncover a novel mechanism for regulating Fgf21 gene expression.