Hepatolenticular degeneration， also known as Wilson disease （WD）， is a hereditary disease caused by mutations in the ATP7B gene， leading to copper metabolism disorders. Gene mutations result in impaired synthesis of copper-binding protein， and abnormal excretion of copper through bile leads to pathological deposition of copper in various organs， ultimately causing multi-organ damage. The insidious onset and low specificity of symptoms make it difficult to diagnose this disease. On the basis of existing studies and the theory of latent toxin， this paper proposes that latent toxin in kidney collaterals is the main pathogenesis of renal injury in WD. It is pointed out that health Qi deficiency and latent pathogen are the premises for the occurrence of this disease， and the transformation of latent pathogen into toxin is the ley pathological process. Toxin damaging kidney collaterals is the ultimate result. According to the pathogenesis， this paper proposes the treatment principle of reinforcing healthy Qi and resolving toxin and treatment based on syndrome differentiation. This review provides new ideas for the diagnosis and treatment of renal injury in WD with traditional Chinese medicine.

ObjectiveTo observe the clinical efficacy of Gandouling decoction combined with neuromuscular electrical stimulation （NMES） in the treatment of dysphagia in Wilson disease （WD） with combined phlegm and stasis. MethodsA total of 80 WD patients with dysphagia due to combined phlegm and stasis treated in the Department of Encephalopathy， the First Affiliated Hospital of Anhui University of Chinese Medicine were randomized into a control group and an observation group， with 40 patients in each group. In addition， 40 healthy volunteers were recruited as the normal group. The control group was treated with basic copper drainage combined with NMES. The observation group was treated with Gandouling Decoction on the basis of the therapy in the control group. Each course of treatment lasted for 8 days， and the patients were treated for a total of 4 courses. All subjects underwent video fluoroscopic swallowing study （VFSS） before and after treatment. During the examination， contrast agents with 4 different characters were used for the swallowing action， and the passing time was recorded. The TCM syndrome score， water swallow test score， standard swallowing assessment （SSA） score， and 24-h urinary copper level before and after treatment were analyzed. ResultsWhen performing VFSS， the passing time of contrast agents of different characters in the oral stage was longer in the WD group than in the normal group （P<0.01）， while it had no significant difference in the pharyngeal stage. After treatment， the passing time in the oral stage shortened in the control and observation groups （P<0.01）， and the observation group outperformed the control group （P<0.01）. After treatment， both the control and observation groups showed declines in TCM syndrome score and SSA score （P<0.01） and an increase in water swallow test score （P<0.01）， and the changes were more obvious in the observation group than in the control group （P<0.01）. In addition， the treatment in the control and observation groups elevated the 24-h urinary copper level （P<0.01）， and the elevation in the observation group was more obvious than that in the control group （P<0.01）. Neither group showed obvious adverse reaction. ConclusionGandouling decoction combined with NMES can significantly ameliorate dysphagia in WD patients with the syndrome of combined phlegm and stasis regarding the TCM syndrome score， water swallow test score， and SSA score， demonstrating definite clinical efficacy and high safety.

This paper introduces the construction and application of the medical quality evaluation indicator system in clinical departments of a large general hospital.It describes the indicator system's constitution and score setting,summarize the characteristics and application practice of the assessment system,and proposes some ideas for the following improvement,which in order to provide some reference for other hospitals.

The present jaw relationship record tray is designed in an upper and lower integrated type,which can not accurately ob-tain important information of maxillary occlusal plane,the position about 1 mm below the upper lip and the support degree of the upper lip during clinical work.Therefore,the base-plate and occlusal-rim composite solid(diagnostic denture)is not accurate and the accu-rate jaw relationship can not be tranfered in the following steps.This paper introduces the design,clinical application process and key points of a split-type jaw relationship record tray.It can accurately obtain important information such as the occlusal plane,the position about 1mm below the upper lip,and the degree of support of the upper lip.It provides reference for the accurate recording and transfer of the jaw relationship.It also lays a foundation for the direct fabrication of full denture based on the information obtained by the split-type jaw relationship record tray after the digital impression obtained by intraoral scanning.

Humans ; Consensus ; Pancreatic Neoplasms/therapy* ; Neuroendocrine Tumors/therapy*

Objective To investigate the clinical efficacy of endoscopic assisted minimally invasive trans foraminal lumbar interbody fusion(MIS-TLIF)and traditional open TLIF in the treatment of senile degenerative spondylolisthesis.Methods From January 2020 to March 2021,100 elderly patients with degenerative spondylolisthesis were selected and divided into MIS-TLIF group and TLIF group according to the surgical method,with 50 cases in each group.The preoperative and postoperative VAS,Japanese Orthopedic Association score(JO A)and Oswestry disability index(ODI),and the rate of interbody fusion and the incidence of complications were compared and analyzed between the two groups.Results In MIS-TLIF group,the operative time,intraoperative blood loss,incision length,postoperative drainage volume and hospital stay were(167.5±54.2)minutes,(173.8±47.1)ml,(3.5±0.7)cm,(69.6±16.3)ml,and(8.3±2.7)days,respectively.In the TLIF group,it was(136.3±38.9)minutes,(281.0±50.3)ml,(10.0±2.1)cm,(148.4±28.2)ml,and(11.2±3.1)days,respectively.The difference between the two groups was statistically significant(P＜0.05).The VAS,JO A and ODI scores of MIS-TLIF group were(2.17±0.62)points,(21.72±3.14)points and(13.22 ±2.43)points,respectively.The results in TLIF group were(3.24±1.06)points,(17.06±2.85)points and(16.83±2.87)points,respectively,and there was statistical significance between the two groups(P＜0.05).There was no significant difference in the rate of interbody fusion between the two groups at 12 months after operation(P＞0.05).The incidence of postoperative complications in MIS-TLIF group(8.00％)was significantly lower than that in TLIF group(24.00％,P＜0.05).Conclusion MIS-TLIF assisted by endoscope has the advantages of less trauma,faster recovery and less postoperative complications,and the short-term curative effect is more satisfactory than TLIF.

OBJECTIVE: To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face. METHODS: The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants. RESULTS: The clinical manifestations of the child were overall developmental backwardness, seizures, autism, and special facial appearance. High throughput sequencing showed that there was a heterozygous mutation of exon 11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) of the DYRK1A gene. The same variant was found in neither of her parents, suggesting that it has a denovo origin. CONCLUSION The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.
Arthrogryposis ; Child ; Facies ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mutation

This study reported three patients with inferior vena cava (IVC) injury during percutaneous nephrostomy or nephrostomy catheters exchange. After CT examination, the tube of one case with IVC injury during percutaneous nephrostomy was directly extracted under the supervision of CT. The tube of the other 2 cases with IVC injury during nephrostomy catheters exchange were gradually removed after CT examination. The three patients’ nephrostomy tubes were removed successfully after surgery, without secondary vena cava, renal vein injury, and secondary thrombosis, and then they were all safely reperformed with percutaneous nephrostomy.

Objective:To explore the clinical characteristics of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children.Methods:Eleven children with autoimmune GFAP astrocytopathy with positive GFAP antibody in serum and/or cerebrospinal fluid were collected in our hospital from January 2020 to February 2022. The clinical data of these children were analyzed retrospectively.Results:Among the 11 children, there were 6 males and 5 females, and the age of onset ranged from 3 years old and 10 months to 12 years old. The main clinical manifestations included fever ( n=8), headache ( n=5), vomiting ( n=6), ataxia ( n=2), limb weakness ( n=4), cranial nerve involvement ( n=6), disturbance of consciousness ( n=4), abnormal mental behavior ( n=3), seizures ( n=1), and autonomic nervous dysfunction ( n=3). Meningoencephalomyelitis was noted in one child, meningoencephalitis in one, encephalomyelitis in 7, and encephalitis was noted in two children. MRI showed brain involvement in all children, spinal cord involvement in 8 children, and optic nerve involvement in one child. Abnormal enhancement in different parts of cerebral lobe, meninges, sulcus, optic nerve and spinal cord were found in 3 children. Four children were positive for GFAP antibody in cerebrospinal fluid and serum, 3 patients were positive for GFAP antibody in cerebrospinal fluid, and 4 children were positive for GFAP antibody in serum. Four children were complicated with multiple antibodies, mainly myelin oligodendrocyte glycoprotein antibody. Tumor screening was all negative. All of the 11 children responded to immunotherapy, but two of them relapsed; one left visual and motor function impairment. Conclusions:The clinical manifestations of autoimmune GFAP astrocytopathy in children are diverse and non-specific, and the lesions mainly involve meninx, brain, spinal cord and optic nerve. Most children respond well to glucocorticoid treatment and have a good prognosis; but there is still a certain recurrence rate, and some children may leave neurological damage.

Objective:To explore the effect of the hospital-community-family trinity linkage nursing model in patients with home pressure injury.Methods:From May 2018 to May 2019, convenience sampling was used to select 60 bedridden patients with stage 3 to 4 pressure injury at home in Dongcheng District, Beijing, as the research object. The patients were randomly divided into the observation group and the control group, with 30 cases in each group. The observation group conducted a hospital-community-family trinity linkage nursing model, while the control group carried out a traditional community-based routine dressing change and nursing management model. The pressure injury healing rate and healing time of the two groups of patients were compared.Results:The cure rate of patients in the observation group was 96.67% (29/30) , which was higher than 80.00% (24/30) in the control group, and the difference was statistically significant ( P<0.05) . The cure time of patients in the observation group was (42.20±4.97) days, which was shorter than (50.13±4.83) days in the control group, and the difference was statistically significant ( P<0.01) . Conclusions:The hospital-community-family trinity linkage nursing model can improve the treatment effect of home pressure injury, and can provide a practical basis for the rehabilitation of chronic wounds of patients with home pressure injury in the community.