Objective To investigate the effect of nano carbon tracer for protecting parathyroid function in the surgery of thyroid cancer.Methods A total of 178 patients with thyroid cancer admitted in our hospital from Jun.2014 to Mar.2016 were collected and divided into the control group and the observation group according to the random number table method,89 cases in each group.The control group received routine surgery,while the observation group received nanocarbon suspension during surgery.The levels of serum parathyroid hormone and serum calcium in the 2 groups were measured at 3 days after surgery,and the patients with low parathyroid hormone,normal parathyroid hormone and low calcium were counted.Results The rate of ormal serum calcium in the observation group was 91.01％(81/89),significantly higher than 67.42％(60/89) in the control group (P＜ 0.05).The rate of normal parathyroid hormone in observation group was 94.38％ (84/89),significantly higher than 64.04％ (57/89) in the control group (P＜0.05).Conclusion The nano carbon tracer is helpful for protection of parathyroid function in the surgery of thyroid cancer.

Pulmonary ventilation function of 22 patients with idiopathic scoliosis was assessed. The results showed that there were significantly lower in Vital Capacity, Vita! Capacity % in predicted, Inspiratory Capacity, Forced Vital Capacity, Forced Expiratory Volume in Is, Maximal Voluntary Ventilation, and Maximal Voluntary Ventilation % in predicted of patients than those of age and sex matched normal controls. And there was no any statistical difference of Tidal Volume, Forced Expiratory Volume in Is % in predicted, Maximal Middle Flow, and Maximal Middle Flow % in predicted between two groups. Furthermore, the reduction of Vital Capacity % in patients with idiopathic scoliosis was correlated with the Cobb Angle, Wedge Index and rotation degree of the top vertebral body and not with the scoliosis direction and the patients' age.

Objective To summarize and study the clinicopathologic features,diagnosis and differential diagnosis of tricho-blastoma (TB).Methods The clinicopathological characteristics,histomorphology features and immunophenotype features of TB and differential diagnosis with multiple diseases in 3 cases of TB were retrospectively analyzed;moreover,5 cases of basal cell carci-noma were selected and performed the immunophenotype detection,which focused on the differential diagnosis with TB.Results The masses in 3 cases were located under the skin without connecting with the epidermis and were composed of basal-like cells with palisade arrangement of peripheral cells.The case 1 showed unequal-sized multiple cyst cavities and pigment deposition and was di-agnosed as pigmented TB.The papillary mesenchymal bodies were found in case 2,which was diagnosed as TB.The basal cells of tumor in case 3 distributed as palisade arrangement and formed the wave structure,which was diagnosed as rippled-pattern TB.AR in 3 cases and Bcl-2 in 2 cases were negative expression,CK20 in 1 case was sporadically positive,CD10 stroma and papillary struc-ture in 3 cases were positive,paliform-like arrange tumor cells CD10 around basal cell carcinomas in 5 cases were positive,AR in 4 cases was positive,Bcl-2 in 3 cases was positive and CK20 in 5 cases was negative.Conclusion TB is a benign tumor derived from the hair follicle germinal epithelium with a good prognosis after complete resection and the differential diagnosis focuses on basal cell carcinomas.

Objective To investigate the combined inhibition effect and the potential mechanism of rapamycin (mammalian target of rapamycin inhibitor) and PD98059 (mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK) inhibitor) on mouse colorectal cancer (CRC). Methods S-ICR mice were subcutaneously injected with 20 mg/kg of 1,2-dimethylhydrazine dihydrochloride in the nape for 20 weeks to induce CRC. From the 16th week, the mice were treated with alone or combined injection with 0.25 mg/kg rapamycin and 2.5 mg/kg PD98059. The drugs were administered for 8 weeks. Subsequently, the animals were sacrificed and dissected, the tumor sizes were measured, and the tumors were harvested for pathological assay. Furthermore, the phosphorylation of mTOR, p70S6K, and 4E-BPl proteins was detected by using immunohistoehemistry. Results The mice treated with rapamycin (44. 44 %) or PD 98059 (either alone (38.89%) or combination treatment (6.67%) were significantly less likely to develop cancer compared with mice receiving none of them (77.78%, P<0. 05). The average size of tumors was (6.15±2. 192), (8.85±3. 983), (2.917±0. 191), (16.36±6.855) mm3 respectively (P<0.05).The anti-cancer effect of the combination treatment was substantially significant. The proteins of phospho-mTOR, phospho-p70s6K and phospho-4E-BPl were significantly down-regulated after treatments (all P values < ,0.05). Conclusions Combined treatment was more effective than single-drug treatments of rapamycin or PD98059 alone for the prevention and treatment of mouse CRC. The mTOR signal pathway might be involved in the inhibitory mechanism.

Objective To evaluate the clinical effect of endoscopic sphineterotomy (EST) and endoscopic sphincterotomy associated with traditional Chinese medicine in the treatment of intrahepafic duct stones.Methods Eighty patients with common bile duet stones and intrahepatic duct stone were randomly divided into a treatment group and a control group.EST associated with traditional Chinese medicine was performed in the treatment group,and EST only was used in the control group.Clinical effects were observed.Results Common bile Duet stone clearance was achieved in 94% patients in the treatment group,contrasting 88% in the control group.There was no significant difference between them (P＞0.05).While intrahepatic duct stone clearance was 74% and 28% respectively in the treatment group and the control group,showing significant difference (P＜0.05).Conclusion It is a good way that endoscopic sphincterotomy associated with traditional Chinese medicine treating intrahepatic duct stones.

Objective To discuss the therapy for acetabular comminuted fractur e combined with compressive defects. Methods From July 1997 to February 2005, 43 cases of comminuted acetabular fracture combined with compressive defect were t reated. 25 cases were obsolete, 16 fresh, and 2 malformed (90 days after injury) . 34 cases were complicated fractures with defects, and 9 simple fractures with defects. The defect volumes ranged from 3 to 9 cm3, averaging 4.5 cm3. They were treated with ATMFS (acetabular tridimensional memory fixation system) to fixate the comminuted bone fragments tridimensionally. The modified acetabular approac h, reduction of acetabular comminuted articular face, anatomical reconstruction of posterior wall of acetabulum with autogenous ilium, autogenous and artificial bone implantation and bone wax isolation were used. The follow-ups lasted from 5 to 86 months, averaging 15.7 months. Results 31 cases achieved anatomical red uction by filling up the compressive defects. 12 cases were treated by anatomica l reconstruction of posterior wall. On average, 5.3 months after operation, the injured hip joint was as good as the healthy one in 40 cases. Ischemia necrosis of femoral head occurred in 1 case, and 2 cases experienced heterotopic ossifica tion with ischemia necrosis of femoral head which led to osseous fusion of hip j oint. Conclusion The new methods for treatment of acetabular fractures with comp ressive defects elevate the reduction rate of acetabulum and femoral head, and a re effective for the functional recovery of hip joint.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay. METHODS: DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin. CONCLUSION The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Arthrogryposis ; Child ; Family ; GTP-Binding Protein beta Subunits ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Citrullinemia type I (CTLN1). METHODS: Three children diagnosed at the Children's Hospital Affiliated to Shandong University from 2017 to 2020 were selected as the study subjects. Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Next generation sequencing (NGS) was carried out to detect pathological variants of the probands. Sanger sequencing was used for validating the candidate variant among the pedigrees. RESULTS: The probands have respectively carried compound heterozygous variants of c.207_209delGGA and c.1168G>A, c.349G>A and c.364-1G>A, c.470G>A and c.970G>A of the ASS1 gene, which were respectively inherited from their parents. CONCLUSION The newly discovered c.207_209delGGA and c.364-1G>A variants have enriched the mutational spectrum of the ASS1 gene. And the mutation spectrum of Chinese CTLN1 patients is heterogeneous.
Child ; Humans ; Argininosuccinate Synthase/genetics* ; Citrullinemia/genetics* ; East Asian People ; Mutation ; Pedigree

OBJECTIVE: To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C. METHODS: The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software. RESULTS: The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728GG (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation. CONCLUSION The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Asian Continental Ancestry Group ; Bilirubin ; Carrier Proteins ; genetics ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Mutation ; Niemann-Pick Disease, Type C ; genetics

Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother-child pairs of ASD children and 30 matched mother-child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother-child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
Adult ; Animals ; Autism Spectrum Disorder ; microbiology ; Bacteria ; classification ; genetics ; isolation & purification ; Biomarkers ; Child ; Child, Preschool ; Cohort Studies ; Female ; Gastrointestinal Microbiome ; Humans ; Male ; Mice ; Mothers ; Risk Assessment