Objective To explore the clinical and genetic characteristics, treatment. and prognosis of dopamine responsive dystonia (DRD) in children. Method The clinical data of DRD in 3 children admitted to neurology clinic from January 2014 to August 2017 were retrospectively analyzed. Results Two male children, 20-month-old and 2-year-old respectively, and one 4-year-old female child suffered from hypotonia after birth or one year after birth. Genetic testing found that case 1 had heterozygous mutations in tyrosine hydroxylase (TH) gene, C. G943A (p. G315S) from his mother (PMID 20056467) and C. G739A (p. G247S) from his father (PMID 18554280, 24753243) . Case 2 had a heterozygous mutation, c.454-2A＞G, in GCH-1 gene, which was identified to be from his father (PMID 10732814) . Case 3 had two mutations in TH1 gene, c.580+2T>C from her mother (novel mutation) and c.698G>A (p.R233H) from her father (PMID 9703425) . The mother of case 1 was pregnant again. Prenatal examination revealed that the fetus only carried c.G943A (p.G315S) from the mother. Three patients were treated with a small dose of madopar after diagnosis, and gradually increased to obtain the best effect. After 6-month follow-up, cases 1 and 2 recovered to normal, and case 3 showed significant improvement in dystonia, but left foot deformity. Conclusion DRD can start in infants and young children with atypical early symptoms. Genetic testing can make a definite diagnosis. The family that has proband should undergo prenatal examination.

Objective:To study the serological and molecular biological characteristics and differences of occult hepatitis B infection (OBI) between blood donors and chronic hepatitis B (CHB) patients.Methods:Nineteen OBI samples from blood donors and Nineteen OBI samples from CHB patients were collected, and named as group A and group B, respectively. Chemiluminescence method was used for hepatitis B five items detection. Real-time PCR method was used for HBV DNA quantification, and S gene was amplified by nested PCR and sequenced by DNA sequencing.Results:The level of HBV DNA in group A was significantly lower than that in group B ( P<0.05), and there were no significant differences in the serological result between the two groups. The mutation rate in the " a" determinant of S gene in group B was significantly higher than that in group A ( P<0.05). Conclusions:Compared with CHB patients, OBI blood donors have lower levels of viral replication and less chance of S gene mutation, and the use of highly sensitive nucleic acid detection reagents and method during blood screening can maximize the safety of blood transfusion.

OBJECTIVE To explore the effect of Tuoli Xiaodusan(MDX)on ischemia-reperfusion injury of rat skin flaps and its potential mechanism.METHODS Rats were randomly divided into sham operation group(Sham group),Model group,MDX high-dose group(MDX-H group)and MDX low-dose group(MDX-L group),with 10 rats in each group.After the rat back skin flap model was successfully constructed,the drug was administered by gavage immediately,once a day for 14 consecutive days.The changes of rat skin flaps in each group after surgery were observed,and the survival rate of rat skin flaps in each group was measured on the 14th day after surgery;the histopathological changes of rat skin flaps were observed by HE staining;the protein expression of p-p65 and p-IκBα in the rat skin flap tissue was detected by Western blot;ELISA method was used to detect the expression of TNF-α,IL-1β,and IL-6 cytokines;Ki67 and CD31 immunohistochemical staining were used to observe epidermal basal layer cell prolifera-tion and vascular regeneration.RESULTS Compared with Model group,MDX-H group and MDX-L group had a small amount of e-dema and inflammatory fluid exudation after surgery,and the scab removal time was advanced;the ischemic necrosis of the skin flap was significantly improved,the area of skin flap necrosis was significantly decreased,and the survival rate of rat skin flaps was signifi-cantly increased(P<0.01).In addition,MDX could significantly improve the pathological morphology of ischemia-reperfusion injury in rat back skin flaps,reduce the expression of p-p65 and p-IκBα proteins(P<0.001),and decrease the levels of TNF-α,IL-1β,IL-6 inflammatory factor levels(P<0.05,P<0.01,P<0.001,P<0.000 1).The differences in Ki67 and CD31 also suggested that treatment with MDX accelerate re-epithelialization and blood vessel formation after ischemic flap injury.CONCLUSION MDX plays a role in improving ischemia-reperfusion injury of skin flaps by regulating the NF-κB signaling pathway and accelerating epithelializa-tion and angiogenesis.

AIM:To explore the effects of CD38 on lysosome reformation and cholesterol efflux in macro-phages.METHODS:Bone marrow-derived macrophages from low-density lipoprotein(LDL)receptor knockout(LDLr-/-)mice were cultured as cell model.Live cell imaging system was applied to evaluate the effect of nicotinic acid adenine di-nucleotide phosphate(NAADP)on lysosome number.ELISA was conducted to measure NAADP level in macrophages.After the cells were treated with nicotinic acid(NA),RT-qPCR was conducted to detect CD38 mRNA expression,and Western blot was conducted to observe CD38 protein expression and phosphorylated transcription factor EB(TFEB)level.Laser scanning confocal microscopy was applied to evaluate the influence of CD38/NAADP signaling on lysosome number and cholesterol egression.RESULTS:NAADP remarkably increased lysosome number(P<0.05),and this effect was significantly inhibited by NAADP antagonist NED-19,Ca2+ chelator BAPTA,and calcineurin inhibitor CsA(P<0.05).CD38 markedly enhanced NAADP synthesis in macrophages(P<0.05).NAADP synthetic substrate NA prominently ele-vated the expression of CD38 mRNA and protein(P<0.05).NA significantly decreased the phosphorylated TFEB level;this effect was also attenuated by NED-19,BAPTA and CsA(P<0.05).Disrupting CD38/NAADP signaling pathway markedly inhibited NA-induced enhancement of lysosome number,lysosomal free cholesterol and cytosol cholesterol ester efflux in macrophages(P<0.05).NA-induced enhancement of lysosome number,lysosomal free cholesterol and cytosol cholesterol ester efflux abolished in LDLr/CD38 DKO macrophages(P<0.05),whereas these effects induced by NA were recovered after CD38 gene rescue.CONCLUSION:CD38 triggers lysosome reformation via TFEB and consequently pro-motes the efflux of lysosomal free cholesterol and cytosol cholesterol ester.

Objective:To observe the clinical effect of lower eyelid blepharoplasty combined with micro-autologous fat transplantation (MAFT) in the rejuvenation of the infraorbital regions.Method:A retrospective analysis was conducted on the clinical data of patients with lower eyelid pouch and tear trough treated with lower eyelid blepharoplasty combined with MAFT in the Department of Plastic Surgery of Affiliated Hospital of Nanjing University of Chinese Medicine from March 2020 to March 2022. Patients seeked medical attention due to lower eyelid pouch and tear trough, with or without skin laxity, and some patients had varying degrees of midface depression. After preoperative examination and evaluation of the patient’s infraorbital area and midfacial depression, appropriate individualized plans were developed.The patient underwent lower eyelid blepharoplasty by transconjunctival approach combined with tear trough MAFT. For patients with low or depressed midface, midface MAFT was also performed, and for patients with skin laxity, skin removal surgery was performed simultaneously. Complications were recorded after the operation. Preoperative and postoperative photos of more than 6 months were taken with the same postion and delivered to the same doctor to grade the patient’s Barton classification (0-3 grades, with higher grade indicating more obvious tear trough deformity). The improvement of tear trough deformity after surgery was assessed, and the global aesthetic improvement scale (GAIS) score was also assessed. The patients evaluated their improvement using the patients aesthetic improvement scale (PAIS) score (GAIS and PAIS are both 1-5 points, with higher scores indicating more significant postoperative improvement). Normal distribution metric data was represented by Mean±SD, and count data was represented by frequency and/or percentage; skewed distribution metric data was represented by M ( Q1, Q3), and compared by rank sum test. Results:A total of 69 patients were enrolled, including 9 males and 60 females, aged 25-45 years, with an average age of 36.7 years. Among them, 35 patients had midfacial depression, and 11 patients had skin laxity. (0.37±0.07) ml (0.2-0.6 ml) of micro-autologous fat was injected into the orbicularis oculi muscle on each side; (0.18±0.06) ml (0.1-0.2 ml) of micro-autologous fat was injected into the subcutaneous layer on each side; (3.80±0.98) ml (3-5 ml) of micro-autologous fat was injected into the deep medial cheek fat compartment and pyriform aperture fat compartment on each side. No serious complications occurred after the surgery. Postoperative follow-up lasted for 6-13 months, with an average of 8.7 months. The patient’s lower eyelid pouch, tear trough deformity, and depression in the midface have all improved, presenting a youthful and smooth appearance from the infraorbital area to the midface. The skin texture in the lower eyelid area had also improved. At the last follow-up, the Barton classification of the lacrimal groove decreased compared with that before surgery, and the difference was statistically significant [grade 0 (0, 1) vs. grade 2 (1, 2), Z=-7.62, P<0.001]. At the last follow-up, the PAIS score of 69 patients was 5 points in 49 cases (71%) and 4 points in 20 cases (29%); doctor’s GAIS score was 5 points in 38 cases (55%), 4 points in 27 cases (39%), and 3 points in 4 cases (6%) . Conclusion:For those patients with aging status of infraorbital region, like lower eyelid pouch and tear trough deformities, the combination of lower eyelid blepharoplasty through the transconjunctival approach and MAFT can achieve good therapeutic effects. This method is safe with a short recovery time.

Objective:To observe the clinical effect of lower eyelid blepharoplasty combined with micro-autologous fat transplantation (MAFT) in the rejuvenation of the infraorbital regions.Method:A retrospective analysis was conducted on the clinical data of patients with lower eyelid pouch and tear trough treated with lower eyelid blepharoplasty combined with MAFT in the Department of Plastic Surgery of Affiliated Hospital of Nanjing University of Chinese Medicine from March 2020 to March 2022. Patients seeked medical attention due to lower eyelid pouch and tear trough, with or without skin laxity, and some patients had varying degrees of midface depression. After preoperative examination and evaluation of the patient’s infraorbital area and midfacial depression, appropriate individualized plans were developed.The patient underwent lower eyelid blepharoplasty by transconjunctival approach combined with tear trough MAFT. For patients with low or depressed midface, midface MAFT was also performed, and for patients with skin laxity, skin removal surgery was performed simultaneously. Complications were recorded after the operation. Preoperative and postoperative photos of more than 6 months were taken with the same postion and delivered to the same doctor to grade the patient’s Barton classification (0-3 grades, with higher grade indicating more obvious tear trough deformity). The improvement of tear trough deformity after surgery was assessed, and the global aesthetic improvement scale (GAIS) score was also assessed. The patients evaluated their improvement using the patients aesthetic improvement scale (PAIS) score (GAIS and PAIS are both 1-5 points, with higher scores indicating more significant postoperative improvement). Normal distribution metric data was represented by Mean±SD, and count data was represented by frequency and/or percentage; skewed distribution metric data was represented by M ( Q1, Q3), and compared by rank sum test. Results:A total of 69 patients were enrolled, including 9 males and 60 females, aged 25-45 years, with an average age of 36.7 years. Among them, 35 patients had midfacial depression, and 11 patients had skin laxity. (0.37±0.07) ml (0.2-0.6 ml) of micro-autologous fat was injected into the orbicularis oculi muscle on each side; (0.18±0.06) ml (0.1-0.2 ml) of micro-autologous fat was injected into the subcutaneous layer on each side; (3.80±0.98) ml (3-5 ml) of micro-autologous fat was injected into the deep medial cheek fat compartment and pyriform aperture fat compartment on each side. No serious complications occurred after the surgery. Postoperative follow-up lasted for 6-13 months, with an average of 8.7 months. The patient’s lower eyelid pouch, tear trough deformity, and depression in the midface have all improved, presenting a youthful and smooth appearance from the infraorbital area to the midface. The skin texture in the lower eyelid area had also improved. At the last follow-up, the Barton classification of the lacrimal groove decreased compared with that before surgery, and the difference was statistically significant [grade 0 (0, 1) vs. grade 2 (1, 2), Z=-7.62, P<0.001]. At the last follow-up, the PAIS score of 69 patients was 5 points in 49 cases (71%) and 4 points in 20 cases (29%); doctor’s GAIS score was 5 points in 38 cases (55%), 4 points in 27 cases (39%), and 3 points in 4 cases (6%) . Conclusion:For those patients with aging status of infraorbital region, like lower eyelid pouch and tear trough deformities, the combination of lower eyelid blepharoplasty through the transconjunctival approach and MAFT can achieve good therapeutic effects. This method is safe with a short recovery time.

Objective To quantitatively study the correlation between T1ρ and T2 values of glenohumeral articular cartilage and the degree of rotator cuff injury.Methods A total of 149 patients with rotator cuff injury and healthy volunteers were prospectively selected.All of them underwent MRI routine scanning and T1 ρ and T2 mapping sequences.The degree of rotator cuff injury was graded,and the T1ρ and T2 values of glenohumeral articular cartilage were measured to analyze their relationship.Results With the development of rotator cuff injury grading,the T1 ρ and T2 values of glenohumeral articular cartilage increased.There were statistically significant differences in T1ρ and T2 values of articular cartilage between the different grades of rotator cuff injury(P＜0.001).Conclusion The injury of glenohumeral articular cartilage is aggravated with the severity of rotator cuff injury.The severity of rotator cuff injury can be evaluated by analyzing the T1 ρ and T2 values of glenohumeral articular cartilage.

Objective To explore the value of measuring infrapatellar fat pad(IPFP)and muscle fat fraction(FF)around the knee joint based on iterative decomposition of water and fat with echo asymmetry and least squares estimation quantification(IDEAL-IQ)quantitative technology in patients with knee osteoarthritis(KOA)for the degree of KOA.Methods A total of 106 participants were included in this study.Participants were grouped based on Kellgren-Lawrence grading(KLG),divided into no KOA group,mild KOA group and severe KOA group.The IDEAL-IQ technology was used to measure FF values of IPFP and muscles around the knee joint,the correlation between FF values and KOA was analyzed,and its value in diagnosing KOA was evaluated.Results In severe KOA group and mild KOA group can be observed in the way of lower IPFP FF values and higher FF values muscles around the knee joint.The FF values of IPFP and part of the muscles around the knee joint[vastus medialis muscle(VM),vastus lateralis muscle(VL),semimembranosus(SE),sartorius(SA),medial head of gastrocnemius muscle(Gas(media)),lateral head of gastrocnemius muscle(Gas(lateral))]were correlated with the degree of KOA(r/rs=-0.708,0.737,0.567,0.468,0.280,0.491,0.378),the area under the curve(AUC)for diagnosing KOA were 0.850,0.950,0.842,0.759,0.692,0.763,and 0.725,respectively.Conclusion IDEAL-IQ sequence can quantitatively assess fat infiltration of IPFP and muscles around the knee joint in patients with KOA,and has certain potential to predict the development and severity of KOA.

The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (SRS) have been widely used for screening autism spectrum disorder (ASD) in the general population during epidemiological studies, but studies of individuals with intellectual disability (ID) are quite limited. Therefore, we recruited the parents/caregivers of 204 ASD cases, 71 ID cases aged 6-18 years from special education schools, and 402 typically developing (TD) children in the same age span from a community-based population to complete the ASRS and SRS. The results showed that the ID group scored significantly lower on total and subscale scores than the ASD group on both scales (P < 0.05) but higher than TD children (P < 0.05). Receiver operating characteristic analyses demonstrated a similar fair performance in discriminating ASD from ID with the ASRS (area under the curve (AUC) = 0.709, sensitivity = 77.0%, specificity = 52.1%, positive predictive value (PPV) = 82.2%) and the SRS (AUC = 0.742, sensitivity = 59.8%, specificity = 77.5%, PPV = 88.4%). The results showed that individuals with ID had clear autistic traits and discriminating ASD from ID cases was quite challenging, while assessment tools such as ASRS and SRS, help to some degree.
Adolescent ; Age Distribution ; Age Factors ; Autism Spectrum Disorder ; complications ; psychology ; Child ; China ; Female ; Humans ; Intellectual Disability ; etiology ; Male ; Psychiatric Status Rating Scales ; Psychometrics ; Retrospective Studies ; Social Behavior ; Statistics, Nonparametric