Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the ocular, hearing, and kidney function abnormalities and the outcome of penetrating keratoplasty (PK). Mutation analysis of SLC4A11 was performed. All patients presented with bilateral cloudy corneas since birth. Sensorineural hearing loss was detected in all patients. Seven patients (11 eyes) underwent PK with the median age at surgery of 10.1 years (7.1-22.9). The overall corneal graft survival rate after primary PK was 72.7% (8/11 eyes). The mean graft survival time was 94.6 months (95% CI 83.1-126.0). All patients had unremarkable kidney function. The c.2264G>A (p.Arg755Gln) mutation in SCL4A11 was detected in most patients (87.5%). All unrelated Karen tribe patients had p.Arg755Gln mutation, suggestive of founder effect. We found the allele frequency of this variant in the Karen population to be 0.01. The c.2263C>T (p.Arg755Trp) mutation was found in one patient with mild phenotype and the novel truncating protein mutation c.2127delG (p.Gly710fsx*25) in SCL4A11 was identified in two Thai sisters. Visual outcome and graft survival after PK were satisfactory. Our study shows that all studied patients with SLC4A11 mutations had CHED and sensorineural hearing loss, and SLC4A11 mutations were not related to the onset and severity of hearing loss or outcome of keratoplasty.

Sinonasal papilloma in Chiang Mai University Hospital.

OBJECTIVE: To study sinonasal papilloma patients in terms of clinical characteristics, treatment, outcome, and complications. MATERIAL AND METHOD: A retrospective descriptive study was done. Sinonasalpapilloma data were gathered between 1999 and 2009. There were 63 available patients from the 82 cases. RESULTS: There were nine cases of nasal papilloma (14.3%) and 54 of inverted papilloma (85.7%). The mean age of the inverted papilloma group was higher than the nasal papilloma group (54 +/- 12.97 years vs. 42.4 +/- 24.8 years). The most common symptom was unilateral nasal obstruction. There were three cases of synchronous malignancy in the inverted papilloma and two metachronous (9.3%). Thirty-nine patients (72%) could be followed-up for more than three months. Recurrence was more common in the inverted papilloma group than nasal papilloma (37% vs. 11.1%). The 50% recurrent time of the endoscopic group was 51 weeks and the external group was 14 weeks. The recurrence of the external approach group was 1.59 times the endoscopic group. Ten surgical complications were found in eight inverted papilloma patients (16%) and included three in the endoscopic and five in the external group. Most of them were minor They were hypoesthesia and epiphora. CONCLUSION: Sinonasal inverted papilloma was common, able to recur and associated with malignancy. Though this was a limited retrospective study, it showed lower recurrence on the endoscopic approach. The life-long follow-up is needed in all cases.

Deep neck infection in Northern Thailand.

The aim of this retrospective study, conducted by the Department of Otolaryngology, Chiang Mai University, Thailand, is to understand the clinical characteristics of patients with deep neck infection (DNI), especially in immunocompromised hosts, as well as to analyze the factors that influence multiple spaces' involvement and complications. The data collected (January 2004-July 2009) from 177 patients with DNI, excluding peritonsillar abscess, were reviewed, including demography, clinical presentation, etiology, involved fascial spaces, bacteriology, treatment, and complications. SPSS (15.0) was used to analyze the data. A p value of <0.05 was considered statistically significant. Among 177 DNI patients, there were 30 diabetic and 4 HIV infected patients, who were considered immunocompromised. Furthermore, two characteristics (complications and the Hb level) were statistically significant (p value <0.05) in the immunocompromised and immunocompetent groups. The 87 patients who presented with multiple space involvement were predicted by the level of white blood cell count (<5,000 or >12,000/µl) (OR 2.62; 95% CI 1.38-4.96) in univariate analysis. Complications were affected by both host immunity and abnormal Hb level (<10 or >15 g/dl), in univariate analysis, but Hb level was the only risk factor (OR 4.46; 95% CI 1.81-10.99) in multivariate analysis. Comorbidities such as diabetes mellitus and HIV infection required certain clinical assessment because of potential complications. In addition, blood tests (WBC and Hb levels) are the most important investigations necessary in patients suspected of having multiple space involvement and complications.

Impact of Clinical and Histo-Pathological Prognostic Factors on T1-2N0-1 Oral Tongue Carcinoma.

To determine predictive factors which affect local and regional recurrence of T1-2N0-1M0 oral tongue carcinoma (OTC). Records of 42 patients with T1-2N0-1 M0 OTC were reviewed. The clinical characteristics, histo-pathological data, disease recurrence and survival rate were analyzed. Descriptive statistics and Kaplan-Meier survival analysis were used. The median follow up was 38 months. The 2-year overall survival and disease-free survival rates were 85.7 and 55.6 % respectively. At the 2 year analysis, there were surgical margin <5 mm (p value = 0.01), tumor thickness >7 mm (p value = 0.03), perivascular and perilymphatic invasion (p value = 0.01) affected on local recurrence and perivascular and perilymphatic invasion were also predictors for regional recurrence (p value = 0.04). The surgical margin status, tumor thickness, perivascular and perilymphatic invasion represented significant predictive factors for local recurrent OTC. Postoperative adjuvant therapy should be considered in these groups.