Objective To compare the influences of different dilution titers on the ANA detection by the indirect immunofluores‐cence assay(IIF) in children for investigating the necessity of reducing serum initial dilution titer .Methods Serum ANA was detec‐ted by using the indirect immunofluorescence assay at a serial of dilution titer in 110 healthy controls and the results were compared with the results of specific ANAs by the linear immunoassay (LIA);meanwhile the ANA‐LIA results in clinical children patients with ANA‐IIF negative were also analyzed .Results With the dilution titers gradual decrease from 1∶80 ,1∶40 and 1∶20 in the samples of the health group ,the positive detection rates of ANA‐IIF were risen ,which were 7 .3% ,9 .1% and 10 .9% respectively , but the differences were not statistically significant (P>0 .05) ,the weak‐positive rates were 7 .3% ,15 .5% and 31 .8% respective‐ly ,the differences were statistically significant (P<0 .01) .Among 110 healthy children under going the physical examination ,the specific ANA was detected out in 8 samples ,the positive rate was 7 .3% .Among 8 positive cases at the dilution titer of 1∶80 by the IIF method ,specific ANA was in 2 cases;in 4 added cases of fluorescence ANA positive samples at the dilution titers of 1∶40 and 1∶20 ,specific ANA was in 1 case .If with any positive of ANA‐IIF(1∶80) or ANA‐LIA as the ANA positive ,the ANA positive rate was risen from 7 .3% to 12 .7% .In the clinical samples among 29 cases of ANA‐IIF(1∶80) negative autoimmune liver disease related autoantibody detection ,the specific ANA‐LIA positive was detected in 5 cases (17 .2% ) .Conclusion Reducing the initial ti‐ter of children serum is unable to obviously increase the ANA‐IIF positive detection rate ,on the contrary increases the non‐specific weak positive .Therefore ,clinical laboratory does not change the dilution titer of children routine ANA sample .The detection by combining with the specific ANA‐LIA spectrum is conducive to find ANA .

Objective To study the effects of ibuprofen on the growth and development of oligodendrocytes. Methods A total of 6 clean and healthy adult female SD (Sprague Dawley) rats were used for extracting and culturing of oligodendrocytes(OLs).Lysophosphatidic acid(LPA)was then added,and the morphological changes of OLs pre-treatment and post-treatment were observed. Then 6 newborn rats (born 24-48 h) were used for mixed glial cell extraction from the cortex, then the OPCs were inoculated into the culture plates and randomly divided into control group, ibuprofen group, lysophosphatidic acid(LPA)group and LPA+ibuprofen group.After the adhering of the cells in each group for three days, cell morphology was observed,and the drugs were added as interventions.The control group was treated with normal saline, and the other 3 groups were added with saline solution of ibuprofen(100 μmol/L),LPA(1.0 μmol/L)and the mixture of them. The cell morphological changes were observed after 7-day intervention.The morphology of OPCs and OLs were observed by immunofluorescence staining through OPCs'specific immune markers (platelet-derived growth factor receptor alpha, PDGFR-α)and OLs'specific immune markers(myelin basic protein,MBP)along with cell count of mature OLs.Western blot assay was used to detect the relative expression level of MBP in each group. Results After the treatment with LPA to the mature OLs,protrusions were shrinking and became very sparse.The morphology of cells developed well in each group after cell adhering for 3 days. After drug intervention for 7 days, more cell protrusions and branches were observed in ibuprofen group and LPA+ibuprofen group than those of the control group and LPA group.The results of cell count showed that the number of MBP positive cells was significantly higher in the ibuprofen group and LPA+ibuprofen group than that in the control group and LPA group(P<0.01).The results of Western blot assay showed that the MBP protein expression was significantly less in LPA group than the other three groups (P<0.01), and the expression was significantly higher in the ibuprofen group than that of LPA+ibuprofen group (P<0.01). Conclusion LPA has a toxic effect on the growth and development of OPCs, and it has an inhibitory effect on the normal growth of mature OLs. A certain concentration of ibuprofen can significantly inhibit the cytotoxicity of LPA on OPCs and OLs,and promote the formation and maintenance of mature OLs.

BACKGROUNDBleb-associated endophthalmitis (BAE) is a rare but severe complication of trabeculectomy with poor outcome. Various surgical methods were explored to treat such patients. However, there is no defined protocol. The aim of this study was to describe a new combined operation, and to demonstrate the outcome of the treatment.

METHODSNine patients with BAE were enrolled in our study. The combined operation including pars plana vitrectomy (PPV), sclera patch graft (SPG) and endoscopic cyclophotocoagulation (ECP) was used to treat these patients.

RESULTSIn the follow-up of 18 - 24 months, all patients with the endophthalmitis were cured, the useful visual acuity was preserved in 7 patients, and the intraocular pressure (IOP) of 8 patients was controlled just after first operation, only one needed another trans-scleral cyclophotocoagulation.

CONCLUSIONThis combined operation is a useful method for treating the patients with BAE, with SPG and vitrectomy to control the endophthalmitis and ECP to balance the postoperative IOP.

Adolescent ; Adult ; Child ; Endophthalmitis ; surgery ; Female ; Glaucoma ; surgery ; Humans ; Male ; Trabeculectomy ; adverse effects ; Visual Acuity ; physiology ; Vitrectomy ; methods ; Young Adult

Myositis ossificans circumscripta (MOC) is a kind of self-localized, benign and tumor-like lesions often seen in adults, with approximately 75% of cases caused by trauma. We reported a case of non-traumatic MOC occurred at the elbow joint in a 9-year old child and it has been excised by surgery. After 18 months follow-up, a favorable outcome has been achieved with the Broberg-Morrey score of 100. We suggest that surgical resection should be done as soon as the diagnosis is confirmed.
Arthralgia ; diagnostic imaging ; physiopathology ; Biopsy, Needle ; Child ; Elbow Joint ; diagnostic imaging ; pathology ; surgery ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; methods ; Male ; Myositis Ossificans ; diagnostic imaging ; surgery ; Orthopedic Procedures ; methods ; Pain Measurement ; Postoperative Care ; methods ; Range of Motion, Articular ; physiology ; Tomography, X-Ray Computed ; methods ; Treatment Outcome

PURPOSETo investigate the potential correlation between two different types of hip fractures and serum calcium levels.

METHODSWe consecutively studied 101 cases of femoral neck fracture and 95 cases of femoral inter- trochanteric fracture between January 2011 and December 2013. Fasting blood samples were taken and serum calcium measurements were performed respectively in three periods: the time of admission, postoperation, and discharge. Creatinine, alkaline phosphatase and albumin were also analyzed.

RESULTSConsidering the levels of serum calcium between two groups at the time of admission, post- operation and discharge, there was significant difference at admission and discharge (p <0.05), while there was no significant difference at the time of postoperation (p > 0.05). The magnitude of serum calcium fluctuation was larger in femoral neck group than femoral intertrochanteric group. Concerning alkaline phosphatase and albumin levels at admission, there was no significant difference between two groups (p > 0.05).

CONCLUSIONThe capability of reservation and restoration of serum calcium in patients with femoral neck fracture is better than that in patients with femoral intertrochanteric fracture. A low serum calcium level may be susceptible to femoral intertrochanteric fracture.

Aged ; Aged, 80 and over ; Alkaline Phosphatase ; blood ; Calcium ; blood ; Female ; Hip Fractures ; blood ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Serum Albumin ; analysis

The flavonoids were investigated from the whole plants of Lagopsis supina. The compounds were isolated and purified by various column chromatography, and their structures were identified by physiochemical properties and spectroscopic data. Two flavones were isolated from the CH2Cl2 layer of Lagopsis supina extract and identified as genkwanin (1) and 5-hydroxy-7,4'-dimethoxyflavone (2), respectively. Ten flavonoid glycosides were isolated from the water layer of Lagopsis supina and elucidated as kaempferol-3-O-6" (3-hydroxy-3-methylglutaryl) -β-D-glucoside (3), quercetin-3-O-6"-(3-hydroxy-3-methylglutaryl) -β-D-glucoside (4), quercetin-3-O-β-D-glucoside(5), kaempferol-3-Of3-D-glucoside ( 6), isorhamnetin-3-O-/-D-glycopyranoside (7), apigenin-7-O-6-D-glucoside (8), luteolin-7-O-β-D-glucoside (9), chrysoeriol-7-O-β-D-glucoside (10), rutin (11 ), and kaempferol-3-β-(6"-p-coumaroyl) -β-D-glucoside (tiliroside, 12). Compounds 3 and 4 were firstly isolated from Lamiaceae family, and compounds 1-12 were isolated from the plants of Lagopsis genus for the first time.
Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Flavonoids ; chemistry ; isolation & purification ; Lamiaceae ; chemistry ; Molecular Structure ; Spectrometry, Mass, Electrospray Ionization

Objective: To report a family diagnosed with Allan-Herndon-Dudley syndrome (AHDS) due to SLC16A2 gene mutation and to summarize the phenotypes, genotypes, diagnosis, treatment, and prognosis. Methods: The clinical features of a family of AHDS diagnosed in Xiangya Hospital of Central South University in November 2017 were analyzed. Related literature was searched at Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang database (from the establishment of databases to June 2018) by using "Allan-Herndon-Dudley syndrome" , and "AHDS" as keywords and the case reports from April 2013 to June 2018 were reviewed. Results: The proband was a boy aged 8 months who presented with global developmental retardation, inability to hold up the head, disability to sit independently or grab, no language development, elongated face, big ears, esotropia, scoliosis, hypotonia in the trunk, hypertonia in extremities, and hyperreflexia. Brain magnetic resonance imaging (MRI) showed widening of the extracerebral space and delayed myelination. Thyroid function tests revealed increased FT3, decreased FT4 and normal TSH. Whole exome sequencing (WES) revealed the SLC16A2 gene c.431-1 (IVS1) G>C hemizygous mutation. The infant's mother and grandmother are carriers, but whose father had no related mutation. One uncle from maternal side had severe psychomotor retardation as well as dystonia and died at one year of age with unknown etiology. A total of 97 articles were retrieved in which 19 case reports were reviewed. Forty-two cases (22 from 8 families and 20 sporadic) were reported. Among these 42 cases (all males), all of them presented with moderate to severe cognitive dysfunction, 15 with seizures; 36 were bedridden, only 4 could walk; 31 had no language development, 2 could speak sentences, 4 could speak few words, 1 had babbling sounds. Furthermore,16 had microcephaly, 18 had facial dysmorphism, 6 had esotropia, 2 had hearing loss,14 had scoliosis, 11 had joint contracture, 30 had low body weight/muscle wasting, 37 had hypotonia in trunk or extremities, 32 had progressive spastic paraplegia or hypertonia. In terms of thyroid function, 33 had abnormal results, within whom 30 had increased T3, 25 had decreased T4 and 3 had increased TSH. Brain MRI showed delayed myelination in 22 cases, within which one normalized with development. Genetic tests showed that 31 had missense mutation (14 sporadic), 5 had deletion mutation (3 sporadic, and 1 due to frameshift mutation), 5 had insertion mutation (2 sporadic), and 1 had repeated mutation. The prognosis was poor as patients often died of recurrent respiratory tract infection. Conclusions The main clinical manifestations of AHDS are severe global developmental retardation, hypotonia, spastic paraplegia, abnormal serum levels of thyroid hormone and delayed brain myelination. SLC16A2 c. 431-1 (IVS1) G > C mutation is accountable for this disease.

Silver-Russell syndrome ( SRS ) is a rare genetic disorder with non-specific manifestations and severity , so that the clinical diagnosis of SRS remains difficult.We reported a 23-year-old female patient with SRS characterized with short body stature , asymmetry, obesity, fifth finger clinodactyly and dislocation of hip .The patient had a past history of lengthening operation on the right lower limb at the age of 10.Chromosome analysis revealed (46, XX).The patient was admitted due to severe asymmetry in low extremities caused by right-side obesity .After successful orthopedic surgery in the right hips and thighs the symptoms of patient were relieved .

OBJECTIVE: To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency. METHODS: A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019. RESULTS: The age of onset ranged from 0 to 9 years among the 10 children. Convulsion was the most common initial symptom (7 children). Clinical manifestations included ataxia and normal or mildly retarded intellectual development (with or without epilepsy; n=4) and onset of epilepsy in childhood with developmental regression later (n=2). Some children experienced disease onset in the neonatal period and had severe epileptic encephalopathy, with myoclonus, generalized tonic-clonic seizure, and convulsive seizure (n=4); 3 had severe delayed development, 2 had feeding difficulty, and 1 had hearing impairment. Mutations were found in five genes: 3 had novel mutations in the AARS2 gene (c.331G>C, c.2682+5G>A, c.2164C>T, and c.761G>A), 2 had known mutations in the DARS2 gene (c.228-16C>A and c.536G>A), 1 had novel mutations in the CARS2 gene (c.1036C>T and c.323T>G), 1 had novel mutations in the RARS2 gene (c.1210A>G and c.622C>T), and 3 had novel mutations in the AARS gene (c.1901T>A, c.229C>T, c.244C>T, c.961G>C, c.2248C>T, and Chr16:70298860-70316687del). CONCLUSIONS A high heterogeneity is observed in the clinical phenotypes of the diseases associated with the ARS deficiency. A total of 14 novel mutations in 5 genes are reported in this study, which enriches the clinical phenotypes and genotypes of the diseases associated with ARS deficiency.
Amino Acyl-tRNA Synthetases ; genetics ; Child ; Epilepsy ; Humans ; Mutation ; Phenotype ; Retrospective Studies

Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and muscle cramps. This article reports the clinical features and genotype of one toddler with HANAC syndrome caused by COL4A1 gene mutation. The boy, aged 1 year and 8 months, had an insidious onset, with the clinical manifestations of pyrexia and convulsion, white matter lesions in the periventricular region and the centrum semiovale on both sides, softening lesions beside the left basal ganglia, retinal arteriosclerosis, microscopic hematuria and muscle cramps. Whole exome sequencing revealed a pathogenic de novo heterozygous mutation in the COL4A1 gene, (NM_001845) c.4150+1(IVS46)G>T, and therefore, the boy was diagnosed with HANAC syndrome. COL4A1 gene mutation detection should be performed for children with unexplained white matter lesion, stroke, hematuria, polycystic kidney, cataract and retinal artery tortuosity or families with related history.
Aneurysm ; Collagen Type IV ; genetics ; Genotype ; Humans ; Infant ; Male ; Muscle Cramp ; genetics ; Mutation ; Syndrome