ABSTRACT
We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had a variety of clinical features including characteristic facial dysmorphism, cardiac abnormalities, and thrombocytopenia. The karyotype was described as 46,XX,rec(11)dup(11p)inv(11)(p15.1q24.2)pat and methylation-specific multiplex ligation-dependent probe amplification analysis showed duplication of the 11p15.5 region and hypermethylation of imprinting center 1. Chromosomal microarray analysis demonstrated 23.8 Mb duplication on 11pter-p14.3 and 13.8 Mb deletion on 11q23.3-qter. These results were consistent with BWS and JBS, respectively. Because uniparental disomy inherited from paternal pericentric inversion results in simultaneous 11p15.5 duplication and 11q23.3 deletion, appropriate genetic tests are necessary for accurate genetic diagnosis of patients.
ABSTRACT
In order to determine the most suitable computer interfaces for patients with high cervical cord injury, we report three cases of applications of special input devices. The first was a 49-year-old patient with neurological level of injury (NLI) C4, American Spinal Injury Association Impairment Scale (ASIA)-A. He could move the cursor by using a webcam-based Camera Mouse. Moreover, clicking the mouse could only be performed by pronation of the forearm on the modified Micro Light Switch. The second case was a 41-year-old patient with NLI C3, ASIA-A. The SmartNav 4AT which responds according to head movements could provide stable performance in clicking and dragging. The third was a 13-year-old patient with NLI C1, ASIA-B. The IntegraMouse enabling clicking and dragging with fine movements of the lips. Selecting the appropriate interface device for patients with high cervical cord injury could be considered an important part of rehabilitation. We expect the standard proposed in this study will be helpful.
Subject(s)
Animals , Humans , Mice , Forearm , Head Movements , Light , Lip , Pronation , Spinal Injuries , User-Computer InterfaceABSTRACT
BACKGROUND AND OBJECTIVES: Mutational dysphonia, also referred to as mutational falsetto, is defined as the dysphonia that continuously have high pitch after adolescence. The aims of this study were to investigate the acoustic and electroglottographic characteristics of mutational dysphonia before and after voice therapy and to identify the factors that may be of help in its treatment. SUBJECTS AND METHOD: The clinical records of 15 patients with mutational dysphonia were reviewed, and analyses of their voice records were carried out with the help of Lx Speech Studio studio (Laryngograph Ltd, London, UK) program. RESULTS: After voice therapy was combined with manual compression method, the voices of the subjects were lowered in pitch and also improved in voice quality. Furthermore, we were able to classify the mutational dysphonia into 4 categories according to diplophonia and closed quotients. The most common type among the categories was bimodal distribution of fundamental frequency, or so-called diplophonic, accompanied with low closed quotient-falsetto voice-at high frequency area. However, the results also showed that all cases of mutational dysphonia can not be generalized simply as falsetto voice. The effect of the therapy for each type was different, and we could assume that in the cases with diplophonia accompanied with non-trained falsetto voice, it is expected that it can be treated readily. CONCLUSION: The diplophonia and closed quotient, which were easily analyzed by using Lx Speech Studio program, are important factors which help to classify the mutational dysphonia, choose the treatment options, monitor the efficacy of therapy, and estimate the prognosis of diseases.