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Dup(3) (p23p25) syndrome and array-based comparative genomic hybridization
24 January 2012
Chun-Ying Weng, Peng-Yeong Woon, Pei-Chun Lai, Yu-Hsun Chang, Tzu-Ying Li, Yi-Ning Su, Jye-Siung Fang, Shao-Yin Chu
A high resolution peripheral blood G-banded chromosome study was arranged for a 3-month-old female infant due to the presence of multiple congenital anomalies (MCA), including: flat face, flat occiput...
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Feasibility of genetic testing for tuberous sclerosis in a 13-year-old boy
24 January 2012
Chun-Ying Weng, Shao-Yin Chu, Pei-Chun Lai, Lang-Yao Chen, Anyi Chen, Yi-Ning Su, Pen-Jung Wang
A 13-year-old boy was brought to a genetic counseling clinic for a tuberous sclerosis complex (TSC) gene test by his mother who was affected by TSC. The boy’s mother had facial angiofibromas, multiple...
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Extrapulmonary tuberculosis in the wrist presenting as a ganglion cyst-like mass: A case report
16 January 2012
Kun-Chi Wu, Huan-Ming Tang, Kuang-Ting Yeh, Dah-Ching Ding
Abstract: There has been recent interest in tuberculosis of the hand because of its rising incidence. Musculoskeletal tuberculosis accounts for only 20% of cases of tuberculosis. The most common muscu...
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Heart rate reduction and autonomic response in young adults following different vagal maneuvers
16 January 2012
Yuan-Chia Cheng, Huai-Min Chen, Wei-Che Lee, Chao-Wen Chen, Hsing-Lin Lin
Abstract: Objective: Vagal maneuvers can cause a bradycardiac response with a reciprocal increase in parasympathetic outflow and reduction of sympathetic tone. Heart rate variability (HRV) analysis is...
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A huge retropharyngeal air pocket in a 7-month-old infant
03 January 2012
Jiann-Jy Chen, Hin-Cheung Shum, Chi-Jen Chen, Dem-Lion Chen, Yao-Mao Tang
A 7-month-old girl presented with poor dietary intake, a productive cough, rhinorrhea, and fever for over 2 weeks. She was admitted to a local hospital where she was examined for sepsis and received i...
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