OK-432 should be efficacious in the treatment of lymphangiomas. Our study design is well structured to clearly define the role of this treatment agent.

Lymphangiomas are congenital malformations of the lymphatic system. These lesions occur most often in the head and neck area, and their treatment continues to be a challenge. Fortunately, a number of advances have occurred in the diagnosis and management of lymphatic malformations in the past decade. The purpose of this article is to clarify the embryology, pathogenesis, histopathology, and classification of these lesions, as well as to describe their various forms of clinical presentation. We provide a complete review of the diagnostic measures available and thoroughly discuss new therapeutic interventions proposed to treat lymphangiomas.

We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a deletion, and three missense mutations, and they indicate that loss of function of TMIE causes hearing loss in humans. TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene.

Propranolol is an effective treatment of head and neck infantile hemangiomas, especially when started early within the rapid growth phase, and is first-line treatment of orbit and larynx hemangiomas. The efficacy and tolerability of propranolol led us to treat some hemangiomas in patients whom we previously would have observed rather than subject to corticosteroid therapy. Relapse was avoided if treatment was prolonged after theoretical involution (age 12 months). Questions remain about optimal dosing and age at treatment cessation.

Clinical otosclerosis (OMIM 166800/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular chain mobility results in a conductive hearing loss. We identified the first locus for otosclerosis (OTSC1) on chromosome 15 in 1998 and reported a second locus (OTSC2) on chromosome 7 last year. Here we present results of a genome wide linkage study on a large Cypriot family segregating otosclerosis. Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3, on chromosome 6p. The defined OTSC3 interval covers the HLA region, consistent with reported associations between HLA-A/HLA-B antigens and otosclerosis.