Objective:To study disease spectrum and genetic profiles of inborn errors of metabolism (IEM) among newborns in selected areas of Nanning city.Methods:From July 2019 to December 2021, neonates born and received IEM screening in our hospital were prospectively enrolled. Heel blood samples were tested using tandem mass spectrometry as IEM screening. Neonates with positive results were called back for recheck. Whole exome sequencing was used to detect possible pathogenic genes in suspected cases and IEM was diagnosed combining clinical manifestations. Sanger sequencing method was used for the diagnosed neonates and their parents to confirm the diagnoses.Results:A total of 16 207 live-birth neonates were enrolled. For initial IEM screening, 1 423 neonates were positive (8.8%) and 1 311 were called back (92.1%). 15 cases were suspected with IEM and 8 were diagnosed. The overall detection rate was 1∶2 026. Among 8 confirmed cases, 4 cases had amino acid metabolism disorders (2 cases of phenylketonuria, 1 case of Citrin deficiency and 1 case of tyrosinemia), 2 cases had organic acid metabolism disorders (1 case of methylmalonic acidemia and 1 case of glutaric acidemia) and 2 cases had fatty acid oxidation disorders (1 case of carnitine palmitotransferaseⅡdeficiency and 1 case of primary carnitine deficiency). 5 cases had homozygous genetic variants (2 in PAH, and 1 in SLC25A13, SLC22A5 and FAH, respectively) and 3 had heterozygous genetic variants (1 in CPT2, MUT, and GCDH, respectively). During follow-up, all 8 cases had normal growth and developmental outcomes after standardized treatment.Conclusions:The overall detection rate of IEM is high, with varied genetic profiles in selected areas of Nanning. Timely genetic testing may lead to early diagnosis and treatment and improve the quality of life of neonates.

Objective:To investigate the effect of Budesonide (BUD) on pulmonary vascular development and the expression of vascular endothelial growth factor (VEGF) and nucleotide binding oligomerization domain-like receptor protein 3 (NLRP3) in newborn rats with bronchopulmonary dysplasia (BPD) caused by intrauterine infection.Methods:The 15-day-pregnant SD rats were divided into control group and infection group [intraperitoneal injection of 0.35 mg/(kg·d) lipopolysaccharide], and the newborn rats born by the above groups were divided into 3 groups: BUD group (0.5 mg of BUD suspension), normal control group (NC group, equal amount of 9 g/L saline), BPD group (equal amount of 9 g/L saline), with 40 rats in each group, all of them were inhaled twice a day for 14 days.Ten newborn rats were selected at birth, on the 3 rd, 7 th and 14 th day after administration.Pulmonary histopathological changes and radial alveolar counts (RAC) were observed after HE staining, and the thickness of alveolar respiratory membrane was measured; the platelet-endothelial cell adhesion molecule (PECAM-1/CD 31) in lung tissue was detected by immunohistochemistry, and the density of pulmonary microvessels was calculated; the expressions of VEGF, NLRP3 and Caspase-1 were detected by Western blot; and the levels of serum interleukin( IL)-1β and IL-18 were measured by enzyme-linked immunosorbent assay. Results:With the increase of day-old, the lung tissue of newborn rats in NC group was gradually developed and matured, the structure of alveoli was clear, the size was uniform, the count was significantly increased, and no obvious pathological changes were observed.In BPD group, the lung tissue structure was disordered, the alveoli were different in size and few in count, and inflammatory cells were exuded from the alveoli or the alveoli space.Compared with BPD group, the pathological changes of lung tissue in BUD group were significantly reduced.On the 3 rd, 7 th and 14 th day after administration, compared with NC group, the RAC, average integral optical density of CD 31 positive cells, density of pulmonary microvessel and level of VEGF protein in lung tissue of BPD group and BUD group were lower, and the differences were statistically significant (all P<0.05); while the thickness of respiratory membrane, level of NLRP3, Caspase-1 proteins in lung tissue and serum levels of IL-1β, IL-18 were significantly higher, and the differences were statistically significant(all P<0.05). Compared with BPD group, the RAC, average integral optical density of CD 31 positive cells, density of pulmonary microvessel and level of VEGF protein in lung tissue of BPD group and BUD group were significantly higher, and the differences were statistically significant (all P<0.05); while the thickness of respiratory membrane, level of NLRP3, Caspase-1 proteins in lung tissue and serum levels of IL-1β, IL-18 were significantly lower, and the differences were statistically significant (all P<0.05). Conclusions:The occurrence and development of pathological changes of BPD newborn rats caused by intrauterine infection can affect the development of pulmonary vessels through the inflammatory response of lung tissue.BUD can alleviate pathological changes in lung tissues of BPD newborn rats by reducing inflammatory reaction and up-regulating VEGF expression, promoting pulmonary vascular remodeling, and increasing pulmonary microvascular density.

Objective:To investigate the value of CT angiography (CTA) point sign in the treatment of patients with moderate amount basal ganglia hemorrhage at ultra-early stage by trephination and drainage or craniotomy, and its influence in the prognoses.Methods:One hundred and twenty-six patients with moderate amount basal ganglia hemorrhage (30-60 mL) admitted to our hospital from March 2017 to March 2019 were chosen in our study; these patients were evaluated and conformed to have the same tolerance of craniotomy or drainage; and their families agreed to the ultra-early surgical treatments; their clinical data were retrospectively collected. They all accepted CTA before operation. Among them, 68 were into the craniotomy group, including 38 into CTA spot sign negative sub-group and 30 into positive sub-group; 58 were into the trephination and drainage group, including 39 into CTA spot sign negative sub-group and 19 into positive sub-group. The differences of favorable prognosis rate and postoperative re-hemorrhage rate were compared between the craniotomy group and trephination and drainage group, as well as each two sub-groups.Results:The favorable prognosis rate and postoperative re-hemorrhage rate of patients in the craniotomy group (61.8% and 2.9%) were significantly lower as compared with those in the trephination and drainage group (82.8% and 15.5%, P<0.05). In the craniotomy group, the favorable prognosis rate and postoperative re-hemorrhage rate in the CTA spot sign positive sub-group (60.0% and 4.8%) were higher than those in the negative sub-group (63.2% and 2.1%), without significant differences ( P>0.05); in the trephination and drainage group, the favorable prognosis rate and postoperative re-hemorrhage rate in the CTA spot sign positive sub-group (63.2% and 36.8%) were significantly different as compared with those in the negative sub-group (92.3% and 5.1%, P<0.05). Conclusion:Among patients with moderate amount basal ganglia hemorrhage, prognoses can be effectively improved in the following treatments: if the patients have negative CTA spot sign, are evaluated to have low risk of postoperative re-hemorrhage after craniotomy or drainage, and are considered that the prognosis by drainage is better than that by craniotomy, trephination and drainage should be selected; if the patients have positive CTA spot sign, and are evaluated to have lower risk of postoperative re-hemorrhage by craniotomy than that by drainage, craniotomy should be selected.

Objective:To observe the effects of FNS007 on collagen Ⅱ-induced arthritis(CIA) rat models and investigate the underlying mechanism.Methods: CIA model was induced by intradermal injection of Freunds adjuvant and bovine CⅡ.Rats were randomly divided into six groups:normal control group,model group,methotrexate group,high,middle and low doses of FNS007 groups,with 12 rats in each group.FNS007 was gived by intravenous injection,the normal control and model group were administrated with PBS.Observing the paw thickness,ankle joint width and the arthritis scores in the CIA rats during the experiment.On d 22 after injection of the drug, all rats were killed.Interferon-γ(IFN-γ),tumor necrosis factor-α(TNF-α),interleukin-6 (IL-6) and level of anti-CⅡantibody in serum were examined by enzyme-linked immunosorbent assay (ELISA).The pathological score and radiography of ankle joint were evaluated.Results: Data revealed that FNS007 treated groups showed a significant reduction in paw thickness,ankle joint width and the arthritis scores compared to model group (P<0.05,P<0.01),especially FNS007 high dose goup.The levels of TNF-α,IFN-γ,IL-6 and anti-CⅡantibodies in serum in high dose goup were significantly lower than those of model group(P<0.05,P<0.01).X-ray examination showed that FNS007 could significantly alleviate the damage of joint and decrease the radiographic scores.Pathological examination exhibited that FNS007 could significantly reduce pathological scores,alleviate inflammatory cell infiltration and synovial hyperplasia,improve the histopathological changes.Conclusion: FNS007 has a treating effect on CIA rats,and the mechanisms may be through competitive inhibition of T cell,inhibiting inflammatory cytokines and anti-CⅡantibodies secretion,regulating the abnormal immune responses.

Aim To investigate the effect of non-T cell binding peptide(FNS007)on collagen type Ⅱ-induced arthritis(CIA)in mice and the possible mechanisms.Methods The CIA model was induced by intradermal injection of bovine CⅡ+Freunds adjuvant.At the clinical onset of CIA,mice were randomly divided into 6 groups: blank control group(Control),model group,ORENCIA(abatacept)group,FNS007 low dose(1.2 mg·kg-1)group,FNS007 middle dose(2.4 mg·kg-1)group and FNS007 high dose(4.8 mg·kg-1)group.FNS007 was given by intravenous injection on the first day of arthritis and every other day until the study was terminated on d 28 after injection of the drug.The paw thickness and the ankle joint width were measured,and the arthritis scores were recorded.At termination,interferon-γ(IFN-γ),tumor necrosis factor-α(TNF-α),interleukin-6(IL-6)and level of anti-CⅡ antibody in serum were examined by enzyme-linked immunosorbent assay(ELISA).Bone injury was analyzed by X-ray imaging,and HE staining was conducted to observe the histopathologic changes and pathological score of ankle tissues.Results CIA models were successfully induced.Compared with CIA group,FNS007 high dose significantly reduced the paw thickness and the ankle joint left-right diameter,lowered arthritis scores in CIA mice,reduced serum concentrations of IFN-γ,IL-6 and anti-CⅡ antibodies,and lowered the radiographic and histologic scores.Compared with CIA group,FNS007 middle dose group showed marked reduction in the arthritis scores,IL-6 content in serum,and inhibion in the radiographic and histologic scores.The arthritis scores,concentration of IFN-γ,the radiographic and histologic scores were significantly reduced in FNS007 low dose group compared with those in model group.Conclusion FNS007 can effectively inhibit the progression of CIA through inhibiting T-cell activation and reducing inflammatory cytokines,anti-CⅡ antibodies,and histoclasia and bone destruction.

Justified the necessity of remote pathology consultation in China, and described the basic approach of such consultation in terms of the conditions, organizational framework, specialists and consultation process of the hospital. on the basis of benefit in pationts, the consultation helps the development of the pathology department and other specialist departments at the same time, builds initially a pathology quality control system, and accelerates the multi-discipline diagnosis and treatment approach. Expect to encourage contemplation on international remote pathology consultation in an effort to improve such a practice for the benefit of patients.

Objective To investigate the therapeutic efficacy and side-effect of pulsed radiofrequency and radiofrequency thermocoagulation for gasserian ganglion guided by spiral CT on trigeminal neuralgia. Methods 100 patients diagnosed as idiopathic trigeminal neuralgia were treated with pulsed radiofrequency or radiofrequency thermocoagulation for gasserian ganglion. They were assessed with numeric rating scales (NRS) before and 1 d，3 d，1 week， 1 month, 6 months and 12 month after treatment. The side effects were recorded. Results There was significant decrease in the scores of NRS after treatment compared with those before (P<0.01) in both groups. No serious side effects were observed. Conclusion Pulsed radiofrequency for gasserian ganglion for trigeminal neuralgia was effective and less side-effect.