Objective: To evaluate the impact of CO₂ pneumoperitoneum in operating rooms on the health of medical staffs. Methods: In June 2016, the thirty-three medical staffs in operating rooms were chosen as the object of the research.Seventeen people who took part in the pneumoperitoneum operation were selected as a exposure group and sixteen people who took part in the laparotomy operation were selected as a control group.Vital signs and arterial blood gases of medical staffs in the two groups were both measured in pre-operation and post-operation. Occupational Health Questionnaires were conducted to collect information on age, weight and postoperative symptoms. The level of CO₂ in operating room was determined by a portable infrared CO₂ analyzer. Results: Compared with the control group, the concentration of CO₂ in the exposed group was higherat T₁, T₂ and T₃ (t=22.227, 13.583, 17.408, P<0.05) . Heart rates and PaCO₂ in the exposure group raised greatly (t=2.132, 2.129, P<0.05) , while pH decreased (t=-3.015, P<0.05) . The differences between the two groups were statistically significant. Conclusion The increase of mild acidosis and thesense of job burnout in medical staffs could be caused by CO₂ pollution in the operating rooms.

Objective:To investigate the clinical features and characteristics of gene mutation of patients with neurodevelopmental disorder caused by CTNNB1 gene. Method:Genetic mutation analysis of the patients were obtained by using the whole exome sequencing and Sanger sequencing. We reviewed the literatures for the clinical and genetic features of CTNNB1 related neurodevelopmental disorder. Results:Six inpatients, three boys and three girls, who came for speech impairment motor delay were included in this study. The average age for the patients was 17.8±11.1 months. The main clinical manifestations of the patients were craniofacial dysmorphism, microcephaly, hypertonia or spasm, speech impairment motor delay, esotropia and valgus. WES showed that 6 patients carried de novo mutations of CTNNB1 gene, which were c.1057delA, c.1493_1494insA, c.418_424del, c.1985_1988del, c.1420C>T and c.1550T>C. No abnormality was found in the patients′ parents. Conclusions:The clinical manifestation of CTNNB1 related neurodevelopmental disorder involves multiple systems. We found five unreported variants and expanded the variation spectrum of the CTNNB1 gene.

Objective To investigate clinical features of Peutz-Jeghers syndrome(PJS)and genetic change in STK11. Methods Clinical data and genetic change in STK11 gene of four PJS children were retrospectively analyzed.Results Four patients have hyperpigmentation on their lips, buccal mucosa or fingers. Intestinal polyposis was found at different locations of gastrointestinal tract. Polypectomy was performed in four patients and pathological section displayed the muscle fibers of the muscularis mucosae form a dendritic structure. And we found 4 heterozygous mutations (c.582C>A,c.580G>A,c.719C>G and c.879insA)on STK11 gene in these patients.Conclusions The PJS patients have typical clinical features;gene detection is helpful to early diagnosis,and we found a novel mutation(c.879insA) in STK11 gene.

We report a case of fetal diencephalic-mesencephalic junction dysplasia (DMJD) diagnosed prenatally. Prenatal ultrasound at 24 gestational weeks showed that the fetus was small, about the size at 22 weeks' gestation, with short biparietal diameter and enhanced echo at the anterior border of thalamus. Fetal MRI showed short T2 signal shadow in the left choroid plexus, and hemorrhage and midbrain dysplasia were suspected. A pathogenic homozygous mutation variant in protocadherins 12 gene (c.1558C>T) was found in this fetus by whole exome sequencing and both parents carried the same heterozygous variation revealed by Sanger sequencing. All of the above information lead to the diagnosis of fetal DMJD, and the pregnancy was terminated after genetic counseling.

The patient in this study was a 3 years 8 month old boy. The patient presented with facial dysmorphism including wide eye distance and flat nose. The major clinical manifestations were poor response, backward language and motor development; and his fingers cannot be bent. Moreover, the patient′s hands were also uncoordinated. In addition the patient suffered from congenital myopia and nystagmus; and the teeth were fall off easily. The abnormal reproductive system was characterized by small penis and small testicle. No obvious abnormality was found in liver and kidney function and serum immunoglobulin level through laboratory biochemical test. The results of the spine X-Ray examination indicates scoliosis. Results from brain MRI showed cerebellar dysplasia. Compound heterozygous variants in COG5 gene (c.1039C>T and c.928+3A>G), each inheranted from his parents were found in this patient by high-throughput sequencing and Sanger sequencing. After a clear diagnosis, the patient received language rehabilitation training and motor rehabilitation training. In this study, we found two new variants in COG5 gene and increased the mutation spectrum of this gene.

Objective: To discuss the safety and efficacy of simultaneous procedures of vibrant soundbridge implantation and auricular reconstruction with congenital external and middle ear malformation. Methods: This is a retrospective study, including 6 patients, 5 boys and 1 girl, aged 7-12 years. All patients received simultaneous operations of vibrant soundbridge implantation and auricular reconstruction. The mean preoperative air conduction threshold was 64.8 dB HL at 0.5, 1, 2, and 4 kHz. The VSB was placed in the third stage of auricle reconstruction, if the soft tissue expansion was performed; otherwise, the VSB was implanted in the second stage. The satisfaction with reconstructed auricle, surgical complications, hearing improvement and speech discrimination scores were evaluated 6 months after surgery. Results: All patients and their families reported satisfaction with their reconstructed auricle. There was no complications, including cartilage framework exposion, infection, hematoma, skin flap necrosis, facial paralysis, tinnitus, vertigo or others. Post-operatively, mean VSB-aided hearing threshold was 36.7 dB HL, which was reduced by 28.1 dB HL. The mean speech discrimination scores measured in a sound field with a presentation level of 65 dB SPL and 80 dB SPL were improved. Conclusions The simultaneous operations of auricle reconstruction and Vibrant Soundbridge implantation is an alternative method for patients with congenital microtia and atresia.