Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).

PATIENT: Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - MEDICATION: - Clinical Procedure: - Specialty: Otolaryngology. OBJECTIVE: Congenital defects. BACKGROUND: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. CASE REPORT: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). CONCLUSIONS: DISTURBED ARTICULATION WAS DIAGNOSED: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /s/, /z/, /c/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

Voice estimation in patients after reconstructive subtotal laryngectomy.

BACKGROUND: Treatment of laryngeal cancers, may include surgery, radiotherapy, chemotherapy, or a combination. Total laryngectomy (TL) has been the standard surgical treatment. Partial laryngectomy procedures were performed, their advantage over TL is preservation of laryngeal functions. METHODS: The investigation was carried out on a group of 20 patients (3 female and 17 male), who underwent surgery according the techniques mentioned above. The methods of investigation were based on perceptual voice estimation (GRBAS), videolaryngostroboscopy, acoustic voice analysis, aerodynamic measure maximum phonation time, voice self-assessment (VHI). RESULTS AND CONCLUSIONS: The perceptual voice estimation revealed a good phonation result in only 3 cases after using surgery with the Calearo method as well as the best results of MPT. The VHI reflected severe voice handicap in 2 patients (26 to 40 points). No statistically significant differences were observed between the values of the acoustic parameters in MDVP analysis after following operation -CHEP, Calearo, Sedlacek.

[Binaural asymmetric sensorineural hearing loss in audiological practice]. / Ocena obustronnego asymetrycznego niedosluchu czuciowo-nerwowego w praktyce audiologicznej.

OBJECTIVES: To estimate binaural asymmetric sensorineural hearing loss in own material of patients treated in Dept. of Phoniatrics and Audiology. MATERIAL & METHODS: The retrospective analysis was performed on the group of 1816 patients hospitalized in 2008 due to hearing disorders. Asymmetry of hearing loss was classified on Margolis and Saly criteria in PTA, and in ABR results in children. CONCLUSIONS: Binaural asymmetric sensorineural hearing loss was found in 70 patients (3.9%). In a group of 46 differences of inter-aural threshold level in PTA were estimated on 21 to 30 dB. After audiological examination 14% of this patients were qualified for MRI investigation, in 2 (3%) of them acoustic neurinoma was found. The hearing aids fitting were performed in 44% of a group of 70 patients.

[Usefulness of osteometric radiological indices to evaluate the effectiveness of surgery treatment of posttraumatic fractures of cervical vertebral column with dislocation]. / Przydatnosc badan osteometrycznych do analizy chirurgicznej skutecznosci usuwania urazowych przemieszczen kregoslupa odcinka szyjnego.

BACKGROUND AND PURPOSE: The aim of this study was to evaluate the effectiveness of surgery treatment in patients with posttraumatic fractures with dislocation of the cervical spine. MATERIAL AND METHODS: A retrospective review was carried out in 24 patients suffering from posttraumatic fractures of cervical spine segments with dislocation treated surgically at the Department and Clinic of Neurosurgery and Neurotraumatology, University of Medical Sciences in Poznan between 1998-2002. The study included 19 (79.2%) males and 5 (20.8%) females, aged from 16 to 60 years (the average age was 35.5). Traumatic lesions of cervical vertebral segments were localized as follows: level C3-C4 - 3 cases; C4-C6 - 17 cases; and at C6-Th1 - 4 cases. A three-grade scale was used to assess the severity of spinal cord trauma. On admission a complete transverse spinal cord syndrome was observed in 6 patients. Radiological investigations included X-ray (24 cases), CT (2 cases) and MRI (22 cases). With this in mind, the osteometric indices of the spine axis deformity were established: the index of anterior displacement of the vertebrae, the angle of local kyphosis (assessed by the Cobb's technique) and the lordosis curvature index. RESULTS: In all cases the operation was performed using the anterior approach. Surgery included anterior decompression and stabilization of the cervical spine by means of a bone graft or acrylic cement and trapezoidal or "S" plate. The postoperative neurological condition improved in 21 (87.5) patients and correction of the cervical axis was achieved in 24 (100%) cases. Postoperative neurological deficits were intensified in 2 cases and were regressive. The mortality rate was 4.2% (1 case). CONCLUSIONS: Osteometric radiological indices enable the bone structure posttraumatic lesions of the cervical vertebral column to be evaluated. This type of internal stabilization makes it possible to restore the alignment of the anterior column and immobilization of the appropriate vertebral segments.