Clinical data of 4 cases of infants with hemophilia complicated with hematorrhachis diagnosed in Guangzhou Women and Children′s Medical Center from January 2017 to December 2018 was retrospectively analyzed.The clinical manifestations of 4 children was atypical, only showing irritability and crying, poor spirit and weak head in the early stage, and torticollis and limb weakness in the late stage may easily contribute to a misdiagnosis.The spinal magnetic resonance imaging is an important diagnosis of hematorrhachis.The most common site of disease was cervicothoracic and thoracolumbar spinal epidural hemorrhage.Of the 4 patients in this article, 1 patient was treated with surgery combined with infusion factor Ⅷ replacement therapy.Three patients were treated with infusion factor Ⅷ replacement therapy alone to obtain clinical rehabilitation.The prognosis of early diagnosis was good, the time from onset to diagnosis in 3 cases was within 1 week, after treatment all had rehabilitation; 1 case within 2 weeks of diagnosis, partial rehabilitation.It is suggested that hemophilia complicated with hematorrhachis in infants is hidden, and it can only be irritable and crying in the early stage, and neurological symptoms appear in the late stage.Improving diagnostic awareness, early diagnosis and early infusion factor replacement therapy are critical for prognosis.

To report the clinical, radiological and neuropathological findings of a patient with rheuma-toid meningitis. The patient was a 71-year-old Chinese man with a two-year history of rheumatoid arthritisand no other significant medical history, who presented to our hospital recurrent weakness of his left ex-tremities, dysarthria and a continuous bilateral hand tremor. Cerebrospinal fluid (CSF) and serumexam-inations were normal apart from a mildly raised serum perinuclear antineutrophil cytoplasmic autoantibody(p-ANCA). Brain magnetic resonance imaging (MRI) showed leptomeningeal enhancementin both fron-tal and parietal lobes, in addition to several old white matter infarcts. Meningeal biopsy showed numerousinfiltrating macrophages and lymphocytes within the leptomeninges. The patient responded clinically andradiologically to corticosteroid and cyclophosphamide therapy. The patient subsequently developed herpeszoster over his left chest as a complication of his immunosuppressive treatment. His cyclophosphamidewas ceased and intravenous immunoglobulin (IVIG) therapy was commenced, with good clinical responseto both the herpes zoster and meningitis. According to the result of the biopsy, aseptic meningitis wasconsidered the MRI results and the patient’s clinical history were given, and a diagnosis of rheumatoidmeningitis was made. The patientwas p-ANCApositive. Although there was no evidence for cerebral vas-culitis on biopsy, it remains a possibility that the patient’s recurrent minor cerebral infarcts visible onMRI were vasculitic in nature.

Objective To explore the effect of dimethylformamide(DMF)on the histological structure and enzymes activity in the testis of mice.Methods The KM male mice were treated with DMF by gavage at the doses of 0,0.5,1 and 2 g/kg respectively, once a day,for 30 consecutive days.On day 31,the mice blood samples were collected through eyes and then the mice were killed. Two mice were randomly selected in each group and one testicle was sampled to do the pathological examination,the other one for enzyme activity determination,including succinic acid dehydrogenase(SDH),lactate dehydrogenase(LDH)and acid phosphatase (ACP).Results Compared with the control group,all treated groups showed a significant decrease in body weight(P

Background Rigid gas permeable (RGP) contact lens,as a kind of new correction of refraction error,has been wildly used,but whether it will cause eye optical system of the change and influence on the visual acuity is unclear.Objective Present study was to evaluate and compare the visual quality of low to moderate myopia following wearing of RGP contact lens and spectacles.Methods Sixty-eight eyes of 35 subjects with low or mediate myopia were included in this study.Wave-front aberrations and visual acuities under the different contrasts (10％,30％,40％,52％,76％,92％) in the light or dark environment were examined before and 3 months after wearing of RGP corneal contact lens.These parameters were compared with those after wearing of spectacles with paired t test.Results The best corrected visual acuity (BCVA) was improved significantly from 0.94±0.10 to 1.26±0.03 3 months after wearing of RGP corneal contact lens (t=-9.266,P=0.000).After fitting of RGP corneal contact lens,the total higher order wave-front aberrations,the 3rd and 4th order aberrations were significantly declined in comparison with those of before fitting (total:t=4.683,P=0.000;RMS3:t=4.656,P=0.000;RMS4:t=3.929,P=0.000).However,no significant differences were detected in the 5th and 6th order aberrations between RGP corneal contact lens fitting and spectacles wearing (RMS5:t=1.766,P=0.083 ;RMS6:t=1.150,P=0.256).In both bright and dark environments,BCVA values were much better in the eyes with RGP corneal contact lens wearing than that in the eyes with spectacles wearing (all P＜0.05).The BCVA was always reduced with the decline of contrast level whether bright or dark backgrounds both in RGP corneal contact lens wearing eyes and spectacles wearing eyes.Conclusions Wearing of RGP corneal contact lens provides better visual quality for low to moderate myopia than the spectacles wearing.

Objective To investigate the single-nucleotide polymorphisms of PTPN22 gene rs2476601 ,rs3811021 and rs2488457 in patients with primary immune thrombocytopenia(ITP) .Methods Totally 100 patients with ITP and 100 cases as con-trol from Department of Hematology ,the Affiliated Baiyun Hospital of Guiyang Medical College and the Affiliated Hospital of Guiyang Medical College were collected .PTPN22 gene + 1858 loci (rs2476601) and 3′UTR region rs3811021 loci were detected by PCR-RFLP ,the promoter-1123 loci (rs2488457) were detected by PCR-SSP ,and the results were statistically analyzed .Results PTPN22 gene + 1858 locus in ITP patients and control group were all C allele ,T allele was detected ,and there was no single nucle-otide polymorphisms (R620W) exist .The frequency of PTPN22 gene rs3811021 locus TT ,CT ,CC three genotypes in ITP patients and control group had no significant difference(χ2 = 3 .686 ,P= 0 .158) .The frequency of T allele ,C allele in ITP patients and con-trol group had no significant difference(χ2 = 2 .828 ,P = 0 .093) .The frequency of PTPN22-1123 gene (rs2488457)GG ,GC ,CC three genotypes in ITP patients and control group had no significant difference(χ2 = 1 .802 ,P = 0 .406) .The frequency of C allele and G allele in ITP patients and control group had no significant difference(χ2 = 0 .003 ,P = 0 .954) .According to the gender fac-tors ,in females ,the genotype and allele frequency of SNP loci rs3811021 and rs2488457 in ITP patients and control group had no significant difference(P< 0 .05) ,so as in males(P < 0 .05) .Conclusion PTPN22 gene rs2476601 this SNP site does not exist in Guizhou Han population ,The addition of two SNP loci of PTPN22 gene (rs3811021 ,rs2488457) exists polymorphism ,but the two SNP loci has no sex difference ,the onset and ITP in Guizhou Han population had no significant correlation .

Objective:To report thigh muscle magnetic resonance imaging (MRI)tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor en-thesopathy.Methods:Four boys,who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the inci-dental findings of elevated serum creatine kinase levels,and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD).Their creatine kinase levels were increased from 4 087 IU /L to 32 700 IU /L (Normal range:75 -175 IU /L).The muscle biopsy of three patients all demonstrated a dystrophic pattern including necrosis,regeneration,hypertrophy,atrophy and connective tissue proliferation,with different proportions of dystrophin-negative muscle fibers.The gene test of DMD showed an out-frame deletion of exons in three of the four patients,involving either exons 45 or exons 49 -52 deletion or exon 62 duplication,and c.2665 C >T with nonsense mutation in the other one. Muscle MRI tests of the bilateral thighs were performed with T1 weighed sequence and slow tau inversion recovery sequence.The degree of fatty infiltration changes was scored.Results:MRI of the thigh mus-cles showed mild to severe fatty infiltration changes in T1 weighed sequence with the total scores from 2 to 13.The most severe fatty infiltration changes were in the long head of biceps femoris and adductor mag-nus.Obvious hyperintensities appeared mainly in the adductor longus muscles on slow tau inversion re-covery (STIR)images in all the patients without any abnormal signals in the attachment of the ligament, indicating edema changes of the adductor longus muscles which mimiced adductor enthesopathy.Two of the four patients presented with edema changes in the bilateral adductor longus muscles,while the other two were with only unilateral changes.Furthermore,other thigh muscles,including adductor magnus, semitendinosus,sartorius and rectus femoris muscles,could also have mild edema changes in two of the four patients.Conclusion:Dystrophinopathy can manifest as edema changes in the adductor longus mus-cles in thigh muscle MRI tests,which is a typical lesion in adductor enthesopathy.The adductor longus muscles in the dystrophinopathy patients may be easy to be impaired due to traction injury during sports.

Objective To evaluate the effects of different doses of dexmedetomidine on median effective end-tidal concentration of sevoflurane (EC50) inhibiting responses to tracheal intubation in pediatric patients.Methods Sixty-seven ASA physical status Ⅰ or Ⅱ patients,aged 3-8 yr,with body weight not exceeding 150％ of the ideal weight,scheduled for elective surgery under general anesthesia,were randomly divided into 3 groups using a random number table:control group (group C,n =22) and different doses of dexmedetomidine groups (group D1,n =23 ; group D2,n =22).Before induction of anesthesia,dexmedetomidine 1.0 and 2.0 μg/kg was infused intravenously over 10 min followed by infusion at a rate of 0.5 and 1.0 μg·kg-1 ·h-1 in D1 and D2 groups,respectively.Anesthesia was induced with inhalation of 5 ％ sevoflurane.After eyelash reflex disappeared,the end-tidal sevoflurane concentration was adjusted to achieve the target concentration and maintained at this level for 15 min.Tracheal intubation was then performed and the response to intubation was scored.The initial end-tidal sevoflurane concentration was 3.5％,2.5％ and 1.5％ in C,D1 and D2 groups,respectively.Up-and-down sequential trial was used to determine the EC50.Each time the concentration of sevoflurane increased/decreased in the next patient depending on whether or not the response to intubation was positive.The positive response to intubation was defined as intubation score ＞ 1.The ratio of concentrations between the two consecutive patients was 1.2.The EC50 and 95％ confidence interval of sevoflurane were calculated.The development of adverse cardiovascular events was recorded after dexmedetomidine administration.Results The adverse cardiovascular events were not observed in D1 group.The incidence of hypotension and brachycardia was 14％ and 9％ in D2 group.The EC50 (95％ confidence interval) of sevoflurane was 3.54％ (3.39％-3.69％),2.37％ (2.24％-2.46％) and 1.41 ％ (1.37％-1.46 ％) in C,D1 and D2 groups,respectively.Compared with group C,the EC50 of sevoflurane was significantly decreased in D1 and D2 groups (P ＜ 0.01).Compared with group D1,the EC50 of sevoflurane was significantly decreased in group D2 (P ＜ 0.01).Conclusion The optimum dose of dexmedetomidine is 1.0 μg/kg (loading dose) and 0.5 μg· kg-1 · h-1 (maintenance dose) when combined with sevoflurane for induction of anesthesia in pediatric patients.

Objective To describe the changes of cell development associated contracture and structure proteins in vascular smooth muscle cells (VSMCs) in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods The clinical manifestation of probands in 6 families showed the recurrent cerebral ischemic event. A part of patients showed dementia. The genetic analysis in all probands showed Notch3 gene mutation. All probands received the sural nerve biopsy. The primary antibodies against α-smooth muscle actin, smooth muscle myosin heavy chain, desmin and vimenfin were used in immunohistochemistry staining on all of them. Results VSMCs showed hypertrophy or atrophy in the arterioles with different caliber. The granular osmiophilic material (GOM) could be found within the basal lamina of arteriole VSMCs in all of the probands. The expressions of α-smooth muscle actin and smooth muscle myosin heavy chain were partly lost, negative or unevenly distributed in the VSMCs in the arteriole. The expression of desmin showed also unregular distribution or partial loss. The expression of vimentin was partly enhanced. Conclusions The VSMCs show the physiological features of synthetic configuration, indicating the hypoplasia of VSMCs in the arterioles of CADASIL. The VSMCs of the larger arteriole were more severely involved.

Objective To report clinical,myopathological and genetic features in a family with oculopharyngeal muscular dystrophy(OPMD).Methods The proband,a 60 year-old man,presented proximal weakness of both lower limbs since 50 years old.He developed dysphagia and dysarthria after 53 years old and mild exophthalmos with ptosis after 57 years old.The serum creatine kinase was mildly elevated.Electromyography showed neurogenic involvement and the nerve conduction velocity decreased 20%-143%.Other 5 members in 3 generations developed also dysathria after 45 years old.followed by ptosis 4-20 years afterwards.Three of them showed mild limb weakness.Muscle was biopsied in the proband and specimen was examined with histological,enzymhistochemical,immunohistochemical stainings (first antibody were anti.desmin and ubiquitin antibedies) and ultrastructural examination.PABPN1 gene was sequenced in the proband and 18 family members.Results Rimmed vacuoles with ubiquitin positive material appeared in the muscle fibers.Additionally.there were a few angular atrophic fibers in small groups,COX negative fibers and desmin positive regenerative fibers.Intranuclear palisading filamentous inclusions were observed electromicroscopically in 3% of the nuclears.(GCG)6in PABPN1 was expanded to (GCG)9 in the proband and 11 members.Conclusions The onset symptoms is pharyngeal weakness in OPMD due to heterozygous expanding of PABPNl(GCG)9,accompanied with demyelinating neuropathy.Intranuclear inclusions are also identified in Chinese patient.

Adolescent ; Adult ; Astrocytoma ; diagnosis ; surgery ; Brain Neoplasms ; diagnosis ; surgery ; Child ; Female ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Microsurgery ; methods ; Middle Aged ; Thalamic Diseases ; diagnosis ; surgery ; Thalamus ; surgery ; Treatment Outcome