Agus Surono

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disease characterized by malformations of the face, oral cavity, and digits. Thus far, 18 small mutations in the OFD1 gene have been reported. Here, we describe, in one Japanese sporadic female OFD1 case, the presence of a novel pair of deletion mutations: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both of which are present in her paternal X-chromosome. The first deletion, the largest known to affect OFD1, was revealed by identifying four novel transcripts that all lacked exons 7–9. The most likely cause of the double deletion is two unequal recombinations between homologous sequences. Identification of the 4,094-bp deletion was made possible only by analyzing OFD1 mRNA, underscoring the utility of mRNA analysis in the mutational analysis of OFD1.

Hypoxia-Inducible Factor-1α Expression in Indonesian Laryngeal Squamous Cell Carcinoma Patients

Objectives. This research aimed to determine the association between hypoxia-inducible factor-1α (HIF-1α) expression and laryngeal squamous cell carcinoma clinical stage. Methods. We retrospectively analyzed paraffin-embedded tissue from 47 laryngeal squamous cell carcinoma (LSCC) patients from 2011 to 2014. HIF-1α expression was analyzed by immunohistochemistry using an anti-HIF-1α mouse monoclonal antibody. The association between HIF-1α expression and clinical stage was analyzed using the chi square test. Results. The glottis was the predominant site of laryngeal squamous cell carcinoma occurrence, and 43/47 (91.5%) patients presented at an advanced stage. Of the advanced stage patients, 27/43 stained positive for HIF-1α expression and 16/43 stained negative. Of the early stage patients, 2/4 stained positive for HIF-1α expression and 2/4 stained negative. Statistical analysis did not demonstrate significant association of HIF-1α expression. Conclusion. There was no statistically significant association between HIF-1α expression and the clinical stage or histological differentiation of LSCC.

The Role of Mannose-Binding Lectin Serum Level in Tubotympanic Chronic Suppurative Otitis Media

Background Chronic suppurative otitis media (CSOM) is a common public health problem worldwide and a major cause of hearing impairment especially in developing countries. The role of Mannose-Binding Lectin (MBL), a component of innate immunity, in CSOM has not been studied. The aim of the study was to examine whether MBL deficiency was more frequently present in cases group of tubotympanic CSOM patients rather than healthy subjects. Material and Methods This was an analytic observational study. Subjects were enrolled in the Otorhinolaryngology Clinic at Margono Soekarjo Hospital, Purwokerto, Indonesia. An independent t-test was used to compare the mean of MBL serum concentration between tubotympanic CSOM subjects and control. Results From 36 tubotympanic CSOM patients, there were 8 (22.22%) patients with MBL deficiency (MBL level < 100 ng/ml), while no deficiency was found in the control group. The mean of MBL level in cases group was 354.88 ng/ml, with the lowest level being 0.001 ng/ml and the highest level 690.24 ng/ml, while in the control group MBL level mean was 376.27 with the lowest level being 188.71 and the highest level 794.54 ng/ml. Conclusion There was no significant difference of MBL serum level between tubotympanic CSOM and control group. However, the presence of subjects with MBL deficiency in the tubotympanic CSOM group might be considered as playing a role in the tubotympanic CSOM.

Preeclampsia as a Risk Factor for Damage of the Cochlear Outer Hair Cells Function

Preeclampsia is one of the most common complications of pregnancy in the world. In Indonesia, the incidence of preeclampsia lies within 3–10% of all pregnancies every year. Preeclampsia is a multisystem disorder that causes endothelial dysfunction and vasospasm that may lead to ischemia and organ damage especially to the end organs. Cochlea serves as an end organ and is therefore vulnerable to damage under ischemic conditions. This research aimed to understand the role of preeclampsia on the destruction of cochlear outer hair cells function. Subjects were pregnant women who were hospitalized in the Obstetrics and Gynecology Ward of Sardjito Hospital. Diagnosis of preeclampsia was obtained by defining level of high blood pressure measurement and quantitative 24 hours of proteinuria. Meanwhile, cochlear outer hair cell function was measured by the distortion product otoacoustic emission (DPOAE). The DPOAE results showed that REFER presented in 6 (10%) patients with preeclampsia and none in those without preeclampsia groups. This result demonstrated preeclampsia as one of the risk factors for impaired function of cochlear outer hair cells.