Studies of human chromosomal aberrations and knockout (KO) mice have suggested SATB2 as a candidate gene for a human malformation syndrome of craniofacial patterning and brain development. Of 59 unrelated patients with craniofacial dysmorphism, with or without mental retardation, one 36-year-old man had a nonsynonymous mutation in SATB2. The affected individual exhibited craniofacial dysmorphisms including cleft palate, generalized osteoporosis, profound mental retardation, epilepsy and a jovial personality. He carries a de novo germline nonsense mutation (c.715C>T, p.R239X) in the exon 6 of SATB2. Expression studies showed that the mutant RNA was stable, expected to produce a truncated protein predicted to retain its dimerization domain and exert a dominant negative effect. This new syndrome is the first determined to result from mutation of a gene within the family that encodes nuclear matrix-attachment region (MAR) proteins.

Nasal douche and spray is not effective in delivering a nasal irrigation solution into paranasal sinuses in chronic rhinosinusitis.

Although a statistical difference exists between racial groups, clinically, the orbital floor is a useful fixed anatomic landmark for ESBS for both Asian and white populations.

Introduction: Cholesteatoma of the paranasal sinuses is uncommon. Its clinical characteristics are an expanding growth of the affected paranasal sinuses consisting of keratinizing squamous epithelium with bony wall destruction. Among involved paranasal sinuses, sphenoid sinus cholesteatoma is the least common. Case presentation: An 82-year-old female diabetic patient presented with subacute onset of fever after experiencing chronic progressive headaches for more than 20 years. Nasal endoscopy found purulent discharge from left sphenoethmoidal recess. Computed tomography (CT) scan of the paranasal sinus showed soft tissue lesions that totally filled the left sphenoid sinus with posterior and inferior wall destruction. There was no evidence of connection to the left mastoid cavity. Management and outcome: Left sphenoidotomy was performed. Histopathology revealed cholesteatoma. Two months after surgery, she became worse and CT showed extensive skull base destruction. The patient underwent bilateral sphenoidectomy and craniotomy with surgical debridement of osteomyelitis of the skull base. She received long-term intravenous ertapenam and sitafloxacin for treating drug-resistant Klebsiella infection. The osteomyelitis could not be controlled, and she died. Discussion: Progressive headache can be caused by an uncommon disease such as sphenoid sinus cholesteatoma, which is a surgical condition. Complicating osteomyelitis of the skull base requires extensive debridement surgery and should be anticipated.

of follow-up, surgical success, and method used to assess surgical outcome were collected. RESULTS: The study designs were retrospective case series without control (8 papers), retrospective with internal control (4 papers), and prospective case series without control (6 papers). Seventy-eight percent of the published papers provide an evidence level of 4 while the remaining 22% provide an evidence level of 3. The surgical technique was described as frontal sinusotomy (nϭ6), modified Lothrop (nϭ7), Draf types II or III (nϭ3), transseptal frontal sinusotomy (nϭ1), and frontal sinus rescue (nϭ1). The median number of subjects was 20. The median duration of follow-up was 15 months. The diagnosis of frontal sinus disease was made by CT only (nϭ4), CT and MRI (nϭ2), CT and symptoms (nϭ5), and CT and nasal endoscopy (nϭ7). Surgical success rate ranged between 77% and 100%. The surgical outcome was based on nasal endoscopy (nϭ18), CT (nϭ3), symptoms (nϭ10), and outcome measure (nϭ2). CONCLUSIONS: The majority of the published papers that report on the efficacy of endoscopic approaches to treat frontal sinus disease had a small sample size, short follow-up duration, and provide a low evidence level.