TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery / 临床耳鼻咽喉头颈外科杂志

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG（p. A451Gfs*43） and c. 4362_4366del（p. K1457Efs*12）, resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance（CAP） score was 6, and the Speech Intelligibility Rating（SIR） score was 4. Assessment using the Meaningful Auditory Integration Scale（MAIS） showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.

Sclerotherapy for faciocervical macrocystic lymphatic malformations in infants / 中华实用儿科临床杂志

Objective To investigate the therapeutic effect of Pingyangmycin combined with Triamcinolone Acetonide on the huge faciocervical lymphatic malformations (LMs) in infants.Methods Sixty-seven infants with LMs located in head and neck from January 2009 to June 2014 were retrospectively analyzed in Kunming Children's Hospital.Thirty-five males and 32 females were enrolled,aged from 1 month to 4 years,with a median age of 1.3 years.Computed tomography and ultrasonography were used to evaluate the location,size and extent of LMs before treatment in all the patients.The size of lesion varied from 5.2 cm ×7.5 cm to 9.2 cm × 10.5 cm.All patients were given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with uhrasonography guiding under general anesthesia.The injection was repeated every 30 d when necessary.Results The number of injections varied from 2 to 5 times,with a median number of 3.9 times.All cases were followed up for 5 to 36 months.Thirty-two cases (62.68％) were cured,improvement in 19 cases (28.36％) and no effect in 6 cases (8.96％).The total effective rate was 91.04％.There was no severe allergic reaction or pulmonary fibrosis.Secondary operation was performed after 6 months in 12 cases.Two post-operative complications were found,1 was minor paralyses of mandibular branch of facial nerve,with mouth askew,the other was trachyphonia,who were both improved after rehabilitation treatment.Conclusions In order to avoid serious complications,the huge LMs may be given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with ultrasonography guiding.Graded sclerotherapy provides for a less invasive and shorter course of treatment.The complications and risk of secondary resection increase slightly if sclerotherapy has no curative effect.

Diagnosis and treatment of faciocervical lymphatic malformations in infant / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the treatment effect of infant lymphatic malformations (LMs) located in the head and neck.</p><p><b>METHODS</b>Fourty-six LMs located in the head and neck between 2009 and 2013 were retrospectively analyzed. There were 26 males and 20 females, aged from 9 months to 4 years, with a median age of 1.8 years.</p><p><b>RESULTS</b>Phase Isurgical resection was performed in 28 cases. The low concentrations of pingyangmycin was injected in 18 cases, and Phase II surgical resection was performed in 6 cases after 6 months, because of the large tumors and a wide range of invasion. Two post-operative complications were found, one was minor paralyses of mandibular branch of facial nerve, manifestied as mouth askew. Another was injured accessory nerve, manifestied as right upper limb lifting weakness, which improved after rehabilitation treatment.</p><p><b>CONCLUSIONS</b>Surgical treatment is effective to LMs. In order to avoid serious complications, the huge LMs and microcystic LMs may be given local injection of pingyangmycin after puncture fluid, and phase II surgical resection secondly if necessary.</p>

Study of Low Dose Exposure Condition and Image Quality with Chest Computed Radiography / 医疗卫生装备

Objective To investigate the best exposure condition for reducing the radiation dose of the chest radiography and obtaining the good quality of images. Methods With different tube voltage (kVp), tube current & time (mAs), and focus-film distance(FFD) adopted, X-ray detecting phantom was exposed by means of automatic exposure control(AEC). The dosage absorbed in skin was detected; Spatial resolution capacity, low contrast resolution capacity and low contrast sensitive degree were tested. The space and density resolution capacity were tested. The chest image quality was appraised by the way of visual observation and the measure of film density. Results The different kVp and FFD were related to the emitting skin dose (ESD), the higher kVp and the farther FFD follows the lower ESD; the higher or lower mAs has no effect on the image resolution capacity , but it had effect on image noise. The density value and seeing effect of chest film with low dose had reached good image density and needs of diagnostics. Conclusion Under the condition of 120 kVp high voltage, FFD150cm, AEC reduced density and adjusting to the processing parameters of the CR chest images, the radiation dosage of the chest computed radiography can be reduced efficiently and the good quality of images can be obtained.

Adjustment principle and optimizing methods of CR image processing parameters / 医疗卫生装备

Objective To study the adjustment principle and optimizing methods of the image processing parameters of Computed Radiography(CR), including the image density, contrast degree, tissue equalization, spatial frequency, LUT curve,etc. Methods Konica REGIUS MODEL170 CR was applied to adjust various image processing parameters on its CS-1 console. Results Images of all parts of body could be optimized and improved. Conclusion High-quality medical images are available only if the adjustment methods of image processing parameters are completely comprehended and reasonably applied.