Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which may direct the molecular diagnosis to specific genes. Here we present a mutation analysis and a genotype-phenotype correlation study on the gene encoding otoferlin (OTOF), responsible for the DFNB9 subtype of prelingual hearing impairment. Four novel mutations were identified: c.2122C>T (p.Arg708Ter), c.4275G>A (p.Trp1425Ter), c.4362+2T>G, and c.5860_5862delATC (p.Ile1954del). A total of 37 subjects with mutations in OTOF were studied clinically. They were phenotypically homogeneous, having profound hearing impairment with very early onset, as shown by pure-tone audiometry and auditory brainstem responses. Magnetic resonance imaging and computed tomography did not reveal any inner ear malformation. Unexpectedly, transient evoked otoacoustic emissions (TEOAEs) were present, either bilaterally or unilaterally in 11 subjects. Altogether, clinical data of these subjects met the diagnostic criteria of auditory neuropathy. A total of 10 subjects had been successfully provided with cochlear implants. The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.
Curettage is one ofthe most common method for surgical treatment of bone metastasis. Local adjuvant improve most commonly used for improving the effect of curettage in local cancer surgery may exerted their effects either chemically either physically; in Orthopedic Oncology the most common are phenol, liquid nitrogen, laser, and cement. This article reviewed the main characteristics of the most common chemical and physical agents used in bone oncology, emphasizing the toxic effects of some of them, especially phenol and liquid nitrogen. BACKGROUND
Objective: Evaluation of a new active osseointegrated bone-conduction hearing implant in moderate to severe mixed-hearing loss. Study Design: Prospective observational study of a series of cases. Setting: Tertial referral center. Patients: Twenty patients with moderate mixed-hearing loss were evaluated (10 Cochlear Osia group and 10 Baha 5 Power Connect -control group). Intervention: Rehabilitative. Main Outcome Measures: Hearing performance in quiet and in noise and quality-of-life were evaluated. Results: Improvements in audibility, speech-understanding, speech-recognition, and quality-of-sound in noise and quiet were found for the Osia System compared with preoperative unaided hearing and performance was similar to that obtained with Baha 5 Power Connect. Conclusions: The new active transcutaneous bone conduction system provided a tonal improvement in free-field at middle and high frequencies. The performance in speech recognition in quiet and in noise was similar to control group outcomes.
Continuous increase of elderly patients with multimorbidity and Emergency Department (ED) overcrowding are great challenges for modern medicine. Traditional hospital organizations are often too rigid to solve them without consistently rising healthcare costs. In this paper we present a new organizational model achieved at Internal Medicine and Critical Subacute Care Unit of Parma University Hospital, Italy, a 106-bed internal medicine area organized by intensity of care and specifically dedicated to such patients. The unit is partitioned into smaller wards, each with a specific intensity level of care, including a rapid-turnover ward (mean length of stay <4 days) admitting acutely ill patients from the ED, a subacute care ward for chronic critically ill subjects and a nurse-managed ward for stable patients who have socio-economic trouble preventing discharge. A very-rapid-turnover ("come'n'go") ward has also been instituted to manage sudden ED overflows. Continuity, effectiveness, safety and appropriateness of care are guaranteed by an innovative figure called "flow manager," with skilled clinical experience and managerial attitude, and by elaboration of an early personalized discharge plan anticipating every patient's needs according to lean methodology principles. In 2012-2014, this organizational model, compared with other peer units of the hospital and of other teaching hospitals of the region, showed a better performance, efficacy and effectiveness indexes calculated on Regional Hospital Discharge Records database system, allowing a capacity to face a massive (+22 %) rise in medical admissions from the ED. Further studies are needed to validate this model from a patient outcome point of view.
Soccer referees are a specific group of the athletes’ population whose careers peak from 30 to 45 years old. An athlete's performance is not only determined by physical training but also by a lifestyle, e.g. eating habits. The purpose of this study was to verify current eating habits and resulting body composition of a group of elite international soccer referees. At an international FIFA seminar 60 elite international soccer referees (aged 39.2 ± 4.2 years) were enrolled. A body composition assessment was performed with skinfold thickness and bio impedance analysis, while eating habits were evaluated with a multi-pass 24-hour dietary recall. The body composition showed a normal weight condition with a fat content of 11.4 ± 2.5%. Macronutrients showed a low level of carbohydrates (43.6 ± 5.4%) and a high level of fat (40.0 ± 4.5%). Micronutrients showed a low level of calcium, potassium, zinc, magnesium, iodine, vitamin B12 and vitamin B9. Even though their body composition was within the normal range, the current eating habits of elite international soccer referees did not appear to follow the nutrition guidelines. Therefore, it would be advisable to provide knowledge on nutrition for this particular category of sports subjects, an individualized nutritional plan would be advisable, in order to achieve and maintain better performance and appropriate body composition for their role.
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