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.
Child ; Humans ; Mandibulofacial Dysostosis/genetics* ; Quality of Life ; Speech ; Parents ; Mutation ; Nuclear Proteins/genetics* ; Phosphoproteins/genetics*

Objective:To investigate the effect of proprioceptive exercise therapy combined with hyperbaric oxygen on the postoperative rehabilitation of patients with knee cruciate ligament injuries.Methods:A total of 44 patients with knee cruciate ligament injuries who received surgical treatment in No.988 Hospital of CPLA from January 2017 to October 2019 were evenly divided into observation group and control group (22 cases for each group) by random number table method. The patients in the control group were given the conventional rehabilitation treatment after surgery, while the patients in the observation group were additionally treated with proprioceptive exercise therapy combined with hyperbaric oxygen. Both groups received treatments for 2 weeks. The visual analogue scales (VAS) scores of pains were compared between the two groups before treatment, after one-week treatment, and after two-week treatment. The flexor/extensor peak torque ratios and limb symmetry were compared between the two groups before and after treatment. The clinical treatment effects of the knee cruciate ligament injuries and postoperative life quality were compared between the two groups.Results:The VAS scores of the observation group after one-week and two-week treatment were 2.11±0.45 and 1.02±0.07 respectively. The corresponding scores in the control group were 5.46±1.04 and 3.48±0.75 respectively, and the differences between the two groups after one-week and two-week treatment were statistically significant ( P<0.05). After two weeks of treatment, the difference of peak torque ratios of the flexor/extensor between the observation group [(84.95±7.71)%] and the control group [(73.65±8.11)%] was statistically significant ( P<0.05); the difference of limb symmetry ratio between the observation group [(88.96±10.22)%] and the control group [(75.60±9.08)%] was statistically significant ( P<0.05); the difference of total effective rate between the observation group (86.36%, 19/22) and the control group (63.64%, 14/22) was statistically significant ( P<0.05). The difference of scores of Medical Outcomes Study Short-Form 36 (SF-36) on life quality between the observation group (92.81±11.53) and the control group (85.60±12.34) was statistically significant ( P<0.01). Conclusion:Proprioceptive exercise therapy combined with hyperbaric oxygen on the postoperative patients with cruciate ligament injuries of the knee can enhance clinical effect, reduce the pain level of patients, and improve ligament function, hence achieve better quality of life.

Objective:To explore the effect of ultrasound-guided erector spinal plane block (ESPB) combined with hyperbaric oxygen (HBO) in patients with post-herpetic neuralgia (PHN).Methods:A total of 86 patients with PHN admitted to No.988 Hospital of CPLA from January 2017 to August 2019 were selected as the research subjects and equally divided into two groups by the random number table method. The patients in the control group received ultrasound-guided ESPB therapy, while the patients in the observation group received HBO therapy on the second day after ultrasound-guided ESPB. The pain severity (VAS scores), levels of inflammatory factors, and treatment effectiveness were compared between the two groups.Results:After treatment, the VAS scores of the patients in both two group were significantly lower than those before treatment; the differences of pain severities between the two groups were also statistically significant; the VAS scores of the observation group were lower than those of the control group; all the differences were statistically significant ( P<0.05). After 3 weeks of treatment, the levels of C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor α (TNF-α), and preprocalcitonin (PCT) in the two groups were all lower than those before treatment; the levels of those inflammatory factors in the observation group were lower than those of the control group; all the differences were statistically significant ( P<0.05). The effective rates of the observation group and the control group were 83.72% and 74.42% respectively, with statistically significant difference ( P<0.05). Conclusion:Ultrasound-guided ESPB combined with HBO therapy can better relieve the pain, reduce inflammation, and ensure treatment efficiency for patients with PHN. It is clinically worthy of promotion.

Objective:To explore the effect of ultrasound-guided erector spinal plane block (ESPB) combined with hyperbaric oxygen (HBO) in patients with post-herpetic neuralgia (PHN).Methods:A total of 86 patients with PHN admitted to No.988 Hospital of CPLA from January 2017 to August 2019 were selected as the research subjects and equally divided into two groups by the random number table method. The patients in the control group received ultrasound-guided ESPB therapy, while the patients in the observation group received HBO therapy on the second day after ultrasound-guided ESPB. The pain severity (VAS scores), levels of inflammatory factors, and treatment effectiveness were compared between the two groups.Results:After treatment, the VAS scores of the patients in both two group were significantly lower than those before treatment; the differences of pain severities between the two groups were also statistically significant; the VAS scores of the observation group were lower than those of the control group; all the differences were statistically significant ( P<0.05). After 3 weeks of treatment, the levels of C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor α (TNF-α), and preprocalcitonin (PCT) in the two groups were all lower than those before treatment; the levels of those inflammatory factors in the observation group were lower than those of the control group; all the differences were statistically significant ( P<0.05). The effective rates of the observation group and the control group were 83.72% and 74.42% respectively, with statistically significant difference ( P<0.05). Conclusion:Ultrasound-guided ESPB combined with HBO therapy can better relieve the pain, reduce inflammation, and ensure treatment efficiency for patients with PHN. It is clinically worthy of promotion.

Objective:To investigate the effect of proprioceptive exercise therapy combined with hyperbaric oxygen on the postoperative rehabilitation of patients with knee cruciate ligament injuries.Methods:A total of 44 patients with knee cruciate ligament injuries who received surgical treatment in No.988 Hospital of CPLA from January 2017 to October 2019 were evenly divided into observation group and control group (22 cases for each group) by random number table method. The patients in the control group were given the conventional rehabilitation treatment after surgery, while the patients in the observation group were additionally treated with proprioceptive exercise therapy combined with hyperbaric oxygen. Both groups received treatments for 2 weeks. The visual analogue scales (VAS) scores of pains were compared between the two groups before treatment, after one-week treatment, and after two-week treatment. The flexor/extensor peak torque ratios and limb symmetry were compared between the two groups before and after treatment. The clinical treatment effects of the knee cruciate ligament injuries and postoperative life quality were compared between the two groups.Results:The VAS scores of the observation group after one-week and two-week treatment were 2.11±0.45 and 1.02±0.07 respectively. The corresponding scores in the control group were 5.46±1.04 and 3.48±0.75 respectively, and the differences between the two groups after one-week and two-week treatment were statistically significant ( P<0.05). After two weeks of treatment, the difference of peak torque ratios of the flexor/extensor between the observation group [(84.95±7.71)%] and the control group [(73.65±8.11)%] was statistically significant ( P<0.05); the difference of limb symmetry ratio between the observation group [(88.96±10.22)%] and the control group [(75.60±9.08)%] was statistically significant ( P<0.05); the difference of total effective rate between the observation group (86.36%, 19/22) and the control group (63.64%, 14/22) was statistically significant ( P<0.05). The difference of scores of Medical Outcomes Study Short-Form 36 (SF-36) on life quality between the observation group (92.81±11.53) and the control group (85.60±12.34) was statistically significant ( P<0.01). Conclusion:Proprioceptive exercise therapy combined with hyperbaric oxygen on the postoperative patients with cruciate ligament injuries of the knee can enhance clinical effect, reduce the pain level of patients, and improve ligament function, hence achieve better quality of life.

OBJECTIVETo increase local blood supply of bone graft, a novel posterior lumbar spine fusion method with orthotopic paraspinal muscle-pediculated bone flaps was constructed, and the fusion rate and clinical effect.were observed.

METHODSFrom June 2007 to December 2010, 117 patients of lumbar spinal stenosis or lumbar destabilization treated with the novel posterior lumbar fusion method were studied, 49 males and 68 females, aged from 40 to 77 years, average 61.5 years. Clinical effect was evaluated by JOA and VAS score preoperatively and postoperatively, and the fusion result was evaluated by three-dimensional CT reconstruction postoperatively.

RESULTSSeventeen cases lost of follow up, the rest were followed up from 7 to 38 months, average 19 months. There was significant difference between pre- and postoperative JOA and VAS score (P < 0.01), the preoperative JOA score was 10.3 ± 1.9, and 25.4 ± 4.2 at the latest follow-up, the improvement rate was 81.0% ; the preoperative VAS score was 8.5 ± 0.8, and 2.3 ± 0.4 at the latest follow-up. The three-dimensional CT reconstruction showed that 126 of the 133 segments formed solid fusion in 100 patients who completed the follow-up, the fusion rate was 94.7%.

CONCLUSIONThe novel posterior lumbar fusion method make the bone graft position more precise, stable and increases the fusion rate, which can effectively reduce pseudarthrosis and have a promising clinical effect.

Adult ; Aged ; Bone Transplantation ; Female ; Follow-Up Studies ; Humans ; Lumbar Vertebrae ; Male ; Middle Aged ; Spinal Fusion ; methods ; Spinal Stenosis ; surgery ; Treatment Outcome