Objective:To explore the treatment of the patients with severe phenotype of mucopolysaccharidosis (MPS) type ⅣA by analysing the clinical feature and diagnosis.Methods:Two pediatric patients diagnosed as MPS ⅣA in severe form were enrolled in Children′s Hospital Affiliated to Zhengzhou University from August 2021 to April 2022.Two children from 2 pedigrees with the main manifestations of short stature and bone deformities were retrospectively included.The clinical manifestations, biochemical indexes, and bone imaging findings were retrospectively analyzed.Peripheral blood leukocytes were collected and subjected to the N-acetylgalactosamine-6-sulfatase (GALNS) assay and genetic sequencing.Gene analysis of amniotic fluid cells at the 18 th week of the second pregnancy of the mother of case 2 was performed for prenatal diagnosis.Allogeneic hematopoietic stem cell transplantation (allo-HSCT) was performed in both patients and to explore the treatment of patients with MPS ⅣA. Results:Both cases presented clinical manifestations of short stature, joint laxity, pectus carinatum, and genu valgus.X-ray examination revealed the decreased bone mineral density, ulnar deviation of the radial epiphysis, kyphosis and scoliosis.The respiratory and skeletal systems were affected in both patients, and the optic nerve was suspiciously affected. GALNS gene analysis showed that there were 2 missense mutations of c. 1019G>A (p.G340D) and c. 706C>G (p.H236D) in case 1, and 2 missense mutations of c. 425A>G (p.H142R) and c. 463G>A (p.G155R) were detected in case 2.Mutations in both cases were inherited from their fathers and mothers, which were all newly discovered that have not been reported.Only the c. 463G>A mutation was detected in the amniotic fluid cells of the mother of case 2.It is confirmed that case 2 was the carrier of MPS ⅣA, whose gene mutation was from the mother, and case 2 did not suffer the same disease as the proband.Both cases were treated with allo-HSCT with full donor chimerism and no severe transplant complications were reported.Their GALNS activity was within the normal range, and the scores of activities of daily living were higher than those before transplantation. Conclusions:The MPS ⅣA patients with severe phenotype is a rare autosomal recessive disease caused by GALNS mutations that is difficult to diagnose and poor prognosis.Early detection, diagnosis, and effective treatment contribute to improve the long-term quality of life.The allo-HSCT is an effective therapeutic strategy for MPS ⅣA.

Objective:To report a case of tocilizumab successfully used in a child with febrile infection-associated epilepsy syndrome (FIRES), and to provide a new idea for the treatment of FIRES in children.Methods:The diagnosis and treatment of 1 case of FIRES admitted in Children′s Hospital Affiliated to Zhengzhou University on February 15, 2021 were described, and the prognosis and follow-up of the child were evaluated. At the same time, the literatures on tocilizumab in the treatment of children′s FIRES were reviewed.Results:A 5-year-old case of FIRES was reported. The child was extremely refractory to immunotherapy and anti-seizure medicines, anesthetics and ketogenic diet. So he was treated with tocilizumab (each time 4 mg/kg) at the 36th day and 43rd day, and epileptic seizures were controlled 10 days after the 2nd doses of tocilizumab. During a follow-up of 10 months, his epileptic seizures were controlled and the cognitive behavior and speech function were well recovered. At present, only 3 cases of FIRES in children have been reported all over the world. All the seizures were well controlled and no obvious adverse reactions were observed.Conclusions:FIRES is a rare refractory epilepsy syndrome, resistant to many kinds of anti-seizure medicines or even anesthetic agents, which is difficult to treat and has poor prognosis. Preliminary trials have shown that tocilizumab is effective and well tolerated in children with FIRES. It may be a potential therapeutic modality for children with FIRES.

BACKGROUND:Platelet rich plasma contains various growth factors, such as platelet-derived growth factor, metastatic growth factor, insulin-like growth factor, epidermal growth factor as wel as vascular endothelial growth factor. Therefore, it can directly or indirectly promote cel differentiation and proliferation in different stages of bone regeneration.
OBJECTIVE:To study the effects of coral bone with platelet rich plasma in the repair of mandibular defects.
METHODS: Totaly 24 New Zealand white rabbits were randomly divided into three groups (n=8 per group) including test group, control group and blank control group. Coral bone with autologous platelet rich plasma, coral bone or nothing was implanted, respectively, after establishing unilateral mandibular defect models. The defects were evaluated by imaging observation and bone his-tomorphometric analysis at 2, 4, 8, 12 weeks after surgery.
RESULTS AND CONCLUSION:At 12 weeks after surgery, by imaging observation, density of the defect increased in the blank control group, which was lower than that of the normal bone; the bone density in the test group was higher than that in the control group, both of which were similar with the normal bone. Besides, the materials were closely combined with the new tissues. By bone his-tomorphometric analysis, area of the new bone in the test group was significantly larger than that in the control and blank control group (P< 0.05). In conclusion, coral bone with platelet rich plasma has good biocompatibility and bone conductivity, which can induce bone regeneration to promote defect repair.

Objective To evaluate the effect of health education through motivational interviewing on the self-efficacy of diabetes patients. Methods From January to June in 2013, 120 patients with type 2 diabetes who were extracted conveniently from our hospital were randomly divided into the experimental group ( n=60 ) and control group (n=60). Diabetes specialist nurses who had been trained in motivational interview were the interviewers. After the baseline evaluations for patients, motivational interview, the traditional health education and the telephone follow-up were used for the patients in the experimental group, but only traditional education and telephone follow-up for those in the control group. The self-efficacy and the Diabetes Management Self-Efficacy Scale was evaluated before intervention, after 3 months and 6 months intervention respectively. Results Before the intervention, the score of self-efficacy was not significantly different between the two groups (P>0. 05). After 3 and 6 months intervention, the total scores of self-efficacy in the experimental group were (20.13 ±3.78) and (24.93 ±4.38), which were significantly higher than those before the intervention (t=4. 397, 11. 716, respectively;P <0. 05). Compared with the scores before the intervention, the scores of the self-efficacy were significantly different after 3 and 6 months intervention (F = 81. 850,P < 0. 05). Conclusions Health education through motivational interviewing can improve the self-efficacy of patients with type 2 diabetes.

Objective To explore the mechanism of the secondary deterioration of neurological symptoms in Wilson' s disease (WD) at early stage of treatment using D-penicillamine. Methods Forty non-treated WD patients, 32 of encephalic and 8 hepatic type respectively, were enrolled in the study. Their neural symptoms were scored using modified Young grade. Cerebrospinal fluid (CSF) copper, serum copper, urinary copper, neuron specific enolase (NSE) in CSF and the albumin ratio CSF/serum (AR) were measured at the same time. After 3 months of treatment with D-penicillamine, neural symptoms of patients were scored again. All dates were analyzed. Results After 3 months of treatment with D-penicillamine, 15 patients (46. 9%) developed a secondary deterioration in neurological symptoms. The concentration of copper and the NSE in CSF of patients whose neural symptom was increasingly deteriorated. The serum copper declined after treatment((0. 37± 0. 09) vs (0. 25 ± 0. 08) mg/L, t = 3. 17, P < 0. 05). The 24 hours urinary copper of patients whose symptoms had deteriorated was much lower than that of patients who had not. No significant change was found in AR ratio before and after the treatment (9. 53 ± 3.18vs12.24±3.17) in the worsened group (t=1.45, P>0. 05). Conclusions The degree of the injury in the neural system and the dose of penicillamine may affect the deterioration of the neural symptom.