Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.

Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Stapedectomy may be regarded as an etiological factor in BPPV. Because the fenestra is located in the posterior part of the stapes footplate, the pathophysiology appears to be related to utricular rather than saccular trauma. Correct measurement of the distance between the incus and stapes footplate is essential in stapedectomy. An Internet survey of the relevant literature in English shows a scarcity of publications on the incidence of BPPV following stapedectomy. In the present study, 63 patients who had undergone a stapedectomy were investigated for the presence of BPPV; all had Dix-Hallpike maneuvers performed for the diagnosis. Sixty-three individuals with no otolaryngological complaints made up the control group. Four of the patients who had undergone stapedectomy showed characteristic findings of BPPV, and no individual in the control group had BPPV; the difference between the two groups was statistically significant. All four of the patients diagnosed with BPPV responded well to the Epley maneuver. The pathophysiology appears to be related to utricular trauma. Correct measurement of the distance between the incus and stapes footplate is essential in stapedectomy.

The aim of this study was to determine the postnatal risk factors associated with hearing loss as well as the prevalence of hearing loss among high-risk preterm infants in newborn hearing screening (NHS). We performed a retrospective study of high-risk preterm infants born with a gestational age ≤32 weeks and/or a birth weight ≤1,500 g. A NHS procedure was performed by automated auditory brainstem response (AABR) and automated evoked otoacoustic emission (TEOAE). Infants who failed TEOAE or AABR or both tests were referred to a tertiary audiology center for diagnosis confirmation and management. Postnatal risk factors associated with hearing loss were evaluated and compared for preterm infants with and without hearing loss. 1,360 high-risk preterm infants were assessed. Permanent hearing loss was found in 19 (1.4%) infants. Multivariate analysis revealed that proven sepsis (p = 0.019), mechanical ventilation ≥5 days (p = 0.024), loop diuretics (p = 0.001), patent ductus arteriosus ligation (p = 0.018) and operation for retinopathy of prematurity (ROP) (p = 0.034) were significant related factors for the hearing loss. This study showed a low prevalence of hearing loss and an association between operation for ROP and hearing loss in preterm infants, which has not been defined previously. Our results suggest that every neonatal intensive care unit should determine their own risk factors and take precautions to prevent hearing loss for these high-risk preterm infants.

Patients with diffuse obliterative otosclerosis have more extensive footplate pathology than annular cases. As a result of this more skill is required for diffuse otosclerosis cases, and postoperative hearing results are usually worse than annular cases. In this retrospective study we compared the preoperative audiological features of annular and diffuse otosclerosis patients. The subjects were 60 patients with conductive hearing loss who had undergone stapedectomy. Annular and diffuse groups were comprised of 30 patients each. Annular otosclerosis was defined as the footplate pathology involving the annular ligament only, where the footplate of the stapes is very thin and retains its bluish color. On the other hand diffuse, obliterative otosclerosis was defined as the pathology involving the whole footplate and also in some cases extending beyond the confines of the annular ligament. In each group preoperative air- and bone-conduction levels at 125-6000 Hz and 500-4000 Hz were noted respectively. Average air-bone gap for the obliterative otosclerosis group was 37.5 dB; the same value for the annular group was 23.8 dB (p<0.05). The gap characteristics of the audiogram were different for the two groups. The annular group had an air-bone gap which was nearly constant for all the frequencies. In the diffuse otosclerosis group, the air-bone gap was more prominent in the low frequencies and it decreased at higher frequencies. No difference was noted in bone-conduction thresholds, and Carhart notch between the two groups. This study demonstrated that a large air-bone gap in patients with conductive hearing loss may be a sign of diffuse obliterative otosclerosis. This may warn the surgeon that a more challenging surgery is possible, and the patient may have a less favorable hearing result. Therefore, in the presence of a large air-bone gap, it may be appropriate to inform the patient of the strong possibility of diffuse otosclerosis.