Joint-multiple family linkage analysis predicts within-family variation better than single-family analysis of the maize nested association mapping population.

Quantitative trait locus (QTL) mapping has been used to dissect the genetic architecture of complex traits and predict phenotypes for marker-assisted selection. Many QTL mapping studies in plants have been limited to one biparental family population. Joint analysis of multiple biparental families offers an alternative approach to QTL mapping with a wider scope of inference. Joint-multiple population analysis should have higher power to detect QTL shared among multiple families, but may have lower power to detect rare QTL. We compared prediction ability of single-family and joint-family QTL analysis methods with fivefold cross-validation for 6 diverse traits using the maize nested association mapping population, which comprises 25 biparental recombinant inbred families. Joint-family QTL analysis had higher mean prediction abilities than single-family QTL analysis for all traits at most significance thresholds, and was always better at more stringent significance thresholds. Most robust QTL (detected in >50% of data samples) were restricted to one family and were often not detected at high frequency by joint-family analysis, implying substantial genetic heterogeneity among families for complex traits in maize. The superior predictive ability of joint-family QTL models despite important genetic differences among families suggests that joint-family models capture sufficient smaller effect QTL that are shared across families to compensate for missing some rare large-effect QTL.

Predictive value of esophageal motility test in the proficiency of esophageal speech.

One method of speech rehabilitation following total laryngectomy surgery is esophageal speech therapy (EST). In this method, which has witnessed relatively low success rates at the end of therapy, identification of patients who can benefit from EST beforehand will be important for determining the appropriate method for alaryngeal speech rehabilitation and might be cost-effective, saving time and labor. To this end, this study conducted research on the feasibility of manometric data measured prior to therapy using an esophageal motility test (EMT) in order to determine the candidates most suitable for esophageal speech (ES) beforehand. A total of 51 total laryngectomy male patients who had never been subject to any kind of speech rehabilitation and had always been articulate were included in the study. Data were collected from 44 patients who completed EST, lasting for 6 months in total and consisting of 11 sessions. Manometric measures were obtained through EMT using a water-perfusion system with a Dent sleeve catheter on the patients prior to the therapy. Wepman's scale was used in order to evaluate ES proficiency. Following the therapy, in accordance with this scale, while patients whose scores was 1, 2, or 3 were considered as adequate, those whose scores were 4, 5, 6, or 7 were considered inadequate and were divided into two groups. Manometric correlations were analyzed between 17 patients (group I) who were able to perform ES at an adequate level and 27 patients (group II) who could not. No statistically significant difference between the groups could be observed in terms of average pressure generated within the upper and lower esophageal sphincters obtained through EMT, peak amplitude of esophageal body contraction pressure, contraction duration time, onset velocity, or peak velocity values. EMT conducted prior to application of EST to total laryngectomized patients did not have any value in determining the level of ES that a patient could reach. Our results also suggest that sphincter pressures or esophageal motility patterns do not have any predictive value and should not be performed.

Results of multiple-frequency tympanometry measures in normal and otosclerotic middle ears.

Tympanometry is a non-invasive, quick, and inexpensive method for examining the middle-ear function. Its limited value in differentiating otosclerotic from normal middle ears caused researchers to develop new methods for evaluation of middle ears. Resonant frequency had been found to be higher in otosclerotic middle ears than normals. We conducted multiple-frequency tympanometry measurements in 25 surgically confirmed otosclerotic ears and 100 normal ears. Mean middle-ear resonant frequency for the otosclerotic group was found to be 1190 Hz and mean middle-ear resonant frequency of the control group was 934.6 Hz (p<0.001). With a cut off value of 1025 Hz (based on 95% confidence interval), sensitivity was 80% and specificity was 82%. The present findings confirm the advantage of the resonant frequency estimation over conventional tympanometry in detecting middle-ear status and mechanics in patients with otosclerosis. As a conclusion, detecting resonant frequency when evaluating patients for otosclerosis must be an essential part of examination. Nevertheless, further investigation is necessary for better diagnosis of otosclerosis preoperatively.

The effect of laparoscopic Nissen fundoplication on laryngeal findings and voice quality.

BACKGROUND: This study aimed to report the need for an ear, nose, and throat (ENT) specialist to evaluate the laryngeal findings and the voice quality of patients with gastroesophageal reflux disease (GERD) and laryngopharyngeal reflux (LPR) symptoms before and after surgery. METHODS: For this study, 38 GERD patients who had a Reflux Symptom Index (RSI) score higher than 14 underwent complete assessment in the ENT department. Standard 24-h pH monitoring, esophageal motility assessment, a detailed ENT examination including the RSI, the Reflux Finding Score (RFS), and objective voice analysis were performed for all the patients before reflux surgery, then 6 to 8 months afterward. RESULTS: The subject's mean RSI scores were 25.45 +/- 7.5 before and 16.52 +/- 5.06 after surgery (p < 0.05), and the mean RFS scores were, respectively, 10.37 +/- 2.7 and 5.5 +/- 1.45 (p < 0.05). The pre- and postoperative differences in the RSI and RFS scores and the voice parameters were statistically significant. CONCLUSIONS: Objective voice analysis, RSI, and RFS can be used to evaluate the postoperative results for GERD patients with LPR symptoms. Examination of these patients by an ENT specialist is necessary before and after the operation.

The effect of the speaker gender on speech intelligibility in normal-hearing subjects with simulated high frequency hearing loss.

OBJECTIVE: To determine whether speaker gender affects speech discrimination scores, in normal hearing and simulated high frequency hearing loss situations. MATERIALS AND METHODS: Listeners were twenty normal volunteers. The speech stimuli were eight phonetically balanced monosyllabic word lists, uttered by a male and a female speakers. These lists were low-pass filtered at 1500, 2500 and 3500 Hz's to represent high frequency hearing loss. To obtain speech discrimination scores, the subjects listened to each of the eight lists in a different filtering and talker conditions in a randomized order. For statistical analysis, Mann-Whitney U test was used. RESULTS: In normal hearing situation, the scores obtained by male and female speeches, were similar (p=0.60). On the contrary, statistically significant differences were observed in all of the three high frequency hearing loss situations (p<0.01). CONCLUSION: Female speech is significantly more difficult to discriminate than male speech in normal-hearing subjects with simulated high frequency hearing loss and probably in patients with high frequency hearing loss.

A metal ring that had been lodged in a child's nasopharynx for 4 years.

A considerable number of articles on foreign-body ingestion and inhalation have been reported in the literature. Of these, nasopharyngeal foreign bodies are rare. Unless they cause total obstruction, symptoms typically appear late. Foreign bodies, especially metal ones, can lodge in soft tissue, and their removal can be rather complicated. In this article, we describe the case of a 4-year-old girl who had had a gold ring lodged in her nasopharynx. The history led us to determine that the ring had been there since the child was 3 months old. A flexible fiberoptic nasopharyngeal examination revealed that the ring was embedded in the nasal surface of the soft palate and was enclosed by a thin layer of mucosal membrane. With the patient under general anesthesia, we were able to remove the foreign body with a 0 degree endoscope.

A new case of a branchial cyst of the parapharyngeal space.

Branchial cysts in the parapharyngeal space are rare. Until now, only 23 such cases have been reported in the literature. In this article, we report a new case in a 65-year-old man. Information gained from the clinical examination, fiberoscopy, and computed tomography revealed that the cyst was obstructing the oropharynx and filling the parapharyngeal and retropharyngeal spaces on the right. The mass was excised via a transcervical approach without any complications. We also review the literature on this condition.

Petrosal presigmoid approach to the petro-clival and anterior cerebellopontine region (extended retrolabyrinthine, transtentorial approach).

Intradural tumours affecting the clivus may be divided into three categories depending the area primarily involved by tumour. The second area extends from the spheno-occipital synchondrosis to the level of the jugular foramina. This area is best approached through the petrosal approach and suited for patients with serviceable hearing on the side of the lesion. 35 cases having skull base lesions were operated by the Skull Base Surgery Group of Ege University Medical Faculty between October 1993 and December 1997. 8 out of 35 cases having the intradural tumours affecting the petroclival and anterior cerebellopontine region, the petrosal presigmoid approach was performed in 4 patients. As hearing was absent in another 4 patients, the translabyrinthine route was coupled a the petrosal craniotomy (transtemporal approach). The aim of this article is to highlight the definitions, indications, hints and pitfalls of the approach from the otoneurological point of view.

Wavelet transform in the time-frequency analysis of patients with articulation disorders.

Spectral analysis of the human voice is a frequently used digital analysis method in the diagnosis, the planning and follow-up of the treatment of speech disorders. In the classical spectral analysis method, the principals of Joseph Fourier are used. This is called "Fourier Transform" and it accepts that all signals are formed of the synthesis of many sinusoïdal formed signals. In recent years a new transform method called "wavelet transform" accepts the complex signals formed of small signal particles called "wavelets" and it is considered that this transform will solve the documented problems of the "Fourier Transform". By using the appropriate wavelet, this transform can be used as an alternative to the Fourier transform. In this study, the patients with an articulation disorder of the "s" sound were evaluated before and after the phoniatric reeducation by using both the transform methods, and the results obtained are discussed.

[Treatment of sudden deafness apropos of 447 cases]. / Traitement des surdités brusques: à propos de 447 cas.

Due to 447 cases of sudden deafness followed up and treated during the last ten years in their clinic, the authors report the results of their treatment method composed of normovolemic hemodilution followed by fractional perfusion of vasodilators, corticosteroids and anticoagulants. Presenting overall examination of this population with audiological, vestibular, clinical, hematological and radiological findings, they insist on the need for emergency treatment and discuss the different aspects of this problem. They also present a global evaluation of the investigations performed on some patient groups. The most spectacular recoveries are obtained in cases who present earlier and who have a hearing loss of low frequencies.

The evaluation of the changes of voice registers in trainee singers by using the two-channel signal processing method.

This study was done at the ENT Department of the Ege University Medical Faculty on twenty trainee singers. Using the two-channel signal processing method, the electroglottographic (EGG) signals and the voice signals were digitized with an analog-digital converting card during an ascending and descending glissando exercised by the trainee singer. These signals were recorded on the computer's hard disk and the obtained data was analysed. It has been determined that the EGG signals were more irregular the singing formant of the voice signal was very weak or absent and the change of register was more significant in less trained singers. This method can be used to evaluate objectively the change of voice registers in the training of the singers and be easily performed by adding an analog-digital converting card to a PC computer, without the need of expensive modern devices.