Ear canal and middle-ear tumors: a single-institution series of 87 patients.

Background: Ear canal and middle ear tumors are rare and exhibit variability in histology and clinical manifestation. Surgical resection remains the treatment of choice, but individualized approach is needed to preserve function when possible.

Aims/objectives: To review the management and outcome of ear canal and middle ear tumors at an academic referral center.

Challenging Management of Plexiform Schwannoma and Plexiform Neurofibroma.

Plexiform variants of neurofibromas and schwannomas are rare and typically arise in superficial soft tissues in the head and neck region. The treatment of these tumors is challenging and no generally accepted guidelines exist for their optimal management. The purpose of this study was to review the management and longterm prognosis of head and neck plexiform neurofibromas and schwannomas at 2 tertiary care academic hospitals in Finland over a 31-year period.

Multidisciplinary Approach to Management of Temporal Bone Giant Cell Tumor.

 Giant cell tumors (GCTs) are rare osseous tumors that rarely appear in the skull.  We review the clinical course of a 28-year-old previously healthy woman with a complicated GCT.  The reviewed patient presented with a middle cranial fossa tumor acutely complicated by reactive mastoiditis.

Jugulotympanic paragangliomas in southern Finland: a 40-year experience suggests individualized surgical management.

Treatment of jugulotympanic paragangliomas (JTPGLs) remains challenging with no clear guidelines for management or follow-up. The aim of this retrospective case-note study was to assess long-term results of operatively and conservatively managed JTPGLs between years 1974-2013. A total of 36 patients with JTPGLs were identified.

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations.

Pivotal role for endothelial tetrahydrobiopterin in pulmonary hypertension.

Background: Pulmonary hypertension is a fatal disease characterized by vasoconstriction and vascular remodeling. Loss of endothelial nitric oxide bioavailability is implicated in pulmonary hypertension pathogenesis. Recent evidence suggests that the cofactor tetrahydrobiopterin (BH4) is an important regulator of nitric oxide synthase enzymatic function.

Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse.

The hph-1 ENU-mutant mouse provides a model of tetrahydrobiopterin deficiency for studying hyperphenylalaninaemia, dopa-response dystonia, and vascular dysfunction. We have successively localized the hph-1 mutation to a congenic interval of 1.6-2.