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Functional near infrared spectroscopy (fNIRS) is an emerging neuroimaging tool that reflects the activity and function of brain neurons by monitoring changes in brain oxygen metabolism based on the neurovascular coupling mechanism. It is non-invasive and convenient, especially suitable for monitoring neonatal brain function. This article provides a comprehensive review of research related to the developmental patterns of brain networks concerning language, music, and emotions in neonates using fNIRS. It also covers brain network imaging in neonatal care, resting-state brain network connectivity patterns, and characteristics of brain functional imaging in disease states of neonates using fNIRS.
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Recém-Nascido , Humanos , Espectroscopia de Luz Próxima ao Infravermelho , Encéfalo/diagnóstico por imagem , Emoções , Idioma , TecnologiaRESUMO
OBJECTIVE@#To study the clinical features of pericardial effusion caused by central venous catheterization in preterm infants.@*METHODS@#A retrospective analysis was performed on 11 preterm infants with pericardial effusion caused by central venous catheterization. Their catheterization features, manifestations, treatment, and prognosis were analyzed.@*RESULTS@#A total of 11 preterm infants (11/2 599, 0.42%) developed pericardial effusion, with a mean gestational age of (30.1±2.6) weeks and a mean birth weight of (1 240±234) g. Pericardial effusion mostly occurred within 4 days after central venous catheterization (10 cases, 91%). The main manifestations included poor response (6/11, 55%), cyanosis (5/11, 45%), increased respiratory rate (6/11, 55%), increased heart rate (6/11, 55%), aggravated dyspnea (5/11, 45%), and muffled heart sound (5/11, 45%). At the time of disease progression, 7 preterm infants (64%) had a deep position of the end of the catheter, 3 preterm infants (27%) had a correct position, and 1 preterm infant (9%) had a shallow position. Five preterm infants (45%) experienced cardiac tamponade, among whom 4 underwent pericardiocentesis. Seven preterm infants were given conservative medical treatment. Among the 11 children, 2 (18%) died and 9 (82%) improved.@*CONCLUSIONS@#Pericardial effusion caused by central venous catheterization mostly occurs in the early stage of catheterization and has critical clinical manifestations. Pericardiocentesis is required for cardiac tamponade, and early diagnosis and intervention can effectively improve prognosis.
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Criança , Humanos , Lactente , Recém-Nascido , Cateterismo Venoso Central/efeitos adversos , Recém-Nascido Prematuro , Derrame Pericárdico/terapia , Pericardiocentese , Estudos RetrospectivosRESUMO
OBJECTIVES@#To study the effect of surgical treatment on prognosis in preterm infants with obstructive hydrocephalus.@*METHODS@#A retrospective analysis was performed on the medical data of 49 preterm infants with obstructive hydrocephalus. According to the treatment regimen, they were divided into two groups: surgical treatment (@*RESULTS@#Among the 49 preterm infants with obstructive hydrocephalus, severe intracranial hemorrhage (37 cases; 76%) and central nervous system infection (10 cases, 20%) were the main causes of hydrocephalus. There was no significant difference in the composition of etiology between the two groups (@*CONCLUSIONS@#Surgical treatment can improve the survival rate of preterm infants with obstructive hydrocephalus and the prognosis of preterm infants with severe intracranial hemorrhage.
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Humanos , Lactente , Recém-Nascido , Hemorragia Cerebral , Hidrocefalia/cirurgia , Recém-Nascido Prematuro , Prognóstico , Estudos Retrospectivos , Resultado do TratamentoRESUMO
In maxillofacial surgery, there is a significant need for the design and fabrication of porous scaffolds with customizable bionic structures and mechanical properties suitable for bone tissue engineering. In this paper, we characterize the porous Ti6Al4V implant, which is one of the most promising and attractive biomedical applications due to the similarity of its modulus to human bones. We describe the mechanical properties of this implant, which we suggest is capable of providing important biological functions for bone tissue regeneration. We characterize a novel bionic design and fabrication process for porous implants. A design concept of "reducing dimensions and designing layer by layer" was used to construct layered slice and rod-connected mesh structure (LSRCMS) implants. Porous LSRCMS implants with different parameters and porosities were fabricated by selective laser melting (SLM). Printed samples were evaluated by microstructure characterization, specific mechanical properties were analyzed by mechanical tests, and finite element analysis was used to digitally calculate the stress characteristics of the LSRCMS under loading forces. Our results show that the samples fabricated by SLM had good structure printing quality with reasonable pore sizes. The porosity, pore size, and strut thickness of manufactured samples ranged from (60.95± 0.27)% to (81.23±0.32)%, (480±28) to (685±31) μm, and (263±28) to (265±28) μm, respectively. The compression results show that the Young's modulus and the yield strength ranged from (2.23±0.03) to (6.36±0.06) GPa and (21.36±0.42) to (122.85±3.85) MPa, respectively. We also show that the Young's modulus and yield strength of the LSRCMS samples can be predicted by the Gibson-Ashby model. Further, we prove the structural stability of our novel design by finite element analysis. Our results illustrate that our novel SLM-fabricated porous Ti6Al4V scaffolds based on an LSRCMS are a promising material for bone implants, and are potentially applicable to the field of bone defect repair.
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Humanos , Ligas , Biônica , Substitutos Ósseos/química , Osso e Ossos/patologia , Força Compressiva , Módulo de Elasticidade , Análise de Elementos Finitos , Lasers , Teste de Materiais , Implante de Prótese Maxilofacial , Porosidade , Pressão , Impressão Tridimensional , Próteses e Implantes , Desenho de Prótese , Estresse Mecânico , Cirurgia Bucal/instrumentação , Engenharia Tecidual/métodos , Titânio/químicaRESUMO
Aim To investigate the effect of baicalein on insulin secretion from rat islets and the underlying mechanism. Methods Pancreatic islets were obtained from the pancreas of male Wistar rats by collagenase P digestion and histopaque-1077 density gradient separa-tion. Single islet cells were dispersed from pancreatic islets by Dispase II digestion. Insulin secretion experi-ment was applied to observe insulin release after baica-lein stimulation. To study the potential mechanism, calcium imaging technique and patch-clamp experiment were applied to measure intracellular Ca2+ concentra-tion and voltage-dependent potassium channel currents (Kv). Results In 16. 7mmol·L-1 glucose, baica-lein accelerated insulin secretion in a dose-dependent manner. Baicalein promoted the intracellular Ca2+ con-centration. The patch-clamp experiment showed that baicalein inhibited Kv current in a dose-dependent manner. Conclusion Baicalein can increase the in-tracellular Ca2+ concentration by inhibiting Kv chan-nels and eventually promoting insulin secretion.
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Objective To explore the new clinical significance of these routine test indexes and find the early biomarkers for predicting hypertension disorder complicating pregnancy(HDP) by the comparative analysis between pregnant women with HDP and normal pregnant women before 20 weeks,including biochemical,blood coagulation and blood routine indexes.Methods A case-control study was conducted to review the clinical data of pregnant women who were undertaken prenatal examination and delivered in Guangzhou Women and Children's Medical Center from 2012 to 2016.The pregnancy were divided into HDP group and control group according to the gestational week and age.Analyzed the related test indexes before 20 weeks of pregnancy.The two groups variables were analyzed by Kolmogorov-Smirnov for normal distribution.Approximate measurement data of normal distribution were mean± standard deviation (x± s) for statistical description,while the data of the skewed distribution was median and percentile[M(P25~P75)]for statistical description.The diagnostic value was analyzed by logistic regression equation and receiver operating characteristic curves (ROC).Results The level of biochemical indexes (AST,γ GT and UA) of HDP group was significantly higher thanthe normal group (t=2.50,3.34,4.56,P< 0.05).Meanwhile the level of blood indexes (RBC,PLT and HCT) of HDP group was significantly higher than the normal group (t=2.89,4.51,3.29,all P<0.01).Other indicators of two groups (ALT,TBIL,Cr,Urea,PT,APTT,TT,FIB and HGB) were not significantly different (t=0.25~ 1.85,all P>0.05).Then the logistic regression model equation was Y=-5.497+0.010 * PLT+0.043 * γ-GT+0.007 * UA+0.045 * AST.The area under ROC curve (AUC) was 0.746 for the combination of the four indexes.The combination resulted in a higher sensitivity of 0.818 and specificity of 0.523.Conclusion Before 20 weeks of gestation,compared with normal group,liver and kidney function in patients with HDP and high blood coagulation state was damaged.Can by combined detection of AST,UA,γ-GT and PLT index,early prevention and diagnosis of gestational hypertension,effective intervention measures taken as soon as possible to improve the prognosis of pregnancy.
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OBJECTIVE@#To investigate the stress distribution to the mandible, with and without impacted third molars (IM3s) at various orientations, resulting from a 2000-Newton impact force either from the anterior midline or from the body of the mandible.@*MATERIALS AND METHODS@#A 3D mandibular virtual model from a healthy dentate patient was created and the mechanical properties of the mandible were categorized to 9 levels based on the Hounsfield unit measured from computed tomography (CT) images. Von Mises stress distributions to the mandibular angle and condylar areas from static impact forces (Load I-front blow and Load II left blow) were evaluated using finite element analysis (FEA). Six groups with IM3 were included: full horizontal bony, full vertical bony, full 450 mesioangular bony, partial horizontal bony, partial vertical, and partial 450 mesioangular bony impaction, and a baseline group with no third molars.@*RESULTS@#Von Mises stresses in the condyle and angle areas were higher for partially than for fully impacted third molars under both loading conditions, with partial horizontal IM3 showing the highest fracture risk. Stresses were higher on the contralateral than on the ipsilateral side. Under Load II, the angle area had the highest stress for various orientations of IM3s. The condylar region had the highest stress when IM3s were absent.@*CONCLUSIONS@#High-impact forces are more likely to cause condylar rather than angular fracture when IM3s are missing. The risk of mandibular fracture is higher for partially than fully impacted third molars, with the angulation of impaction having little effect on facture risk.
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Adulto , Feminino , Humanos , Algoritmos , Fenômenos Biomecânicos , Simulação por Computador , Análise do Estresse Dentário , Módulo de Elasticidade , Análise de Elementos Finitos , Imageamento Tridimensional , Mandíbula/fisiopatologia , Fraturas Mandibulares/fisiopatologia , Modelos Biológicos , Dente Serotino/fisiopatologia , Estresse Mecânico , Tomografia Computadorizada por Raios XRESUMO
Excessive forces may cause root resorption and insufficient forces would introduce no effect in orthodontics. The objective of this study was to investigate the optimal orthodontic forces on a maxillary canine, using hydrostatic stress and logarithmic strain of the periodontal ligament (PDL) as indicators. Finite element models of a maxillary canine and surrounding tissues were developed. Distal translation/tipping forces, labial translation/tipping forces, and extrusion forces ranging from 0 to 300 g (100 g=0.98 N) were applied to the canine, as well as the force moment around the canine long axis ranging from 0 to 300 g·mm. The stress/strain of the PDL was quantified by nonlinear finite element analysis, and an absolute stress range between 0.47 kPa (capillary pressure) and 12.8 kPa (80% of human systolic blood pressure) was considered to be optimal, whereas an absolute strain exceeding 0.24% (80% of peak strain during canine maximal moving velocity) was considered optimal strain. The stress/strain distributions within the PDL were acquired for various canine movements, and the optimal orthodontic forces were calculated. As a result the optimal tipping forces (40-44 g for distal-direction and 28-32 g for labial-direction) were smaller than the translation forces (130-137 g for distal-direction and 110-124 g for labial-direction). In addition, the optimal forces for labial-direction motion (110-124 g for translation and 28-32 g for tipping) were smaller than those for distal-direction motion (130-137 g for translation and 40-44 g for tipping). Compared with previous results, the force interval was smaller than before and was therefore more conducive to the guidance of clinical treatment. The finite element analysis results provide new insights into orthodontic biomechanics and could help to optimize orthodontic treatment plans.
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Humanos , Fenômenos Biomecânicos , Simulação por Computador , Dente Canino , Fisiologia , Modelos Dentários , Análise de Elementos Finitos , Imageamento Tridimensional , Maxila , Fricção em Ortodontia , Fisiologia , Ligamento Periodontal , Fisiologia , Rotação , Estresse Mecânico , Técnicas de Movimentação DentáriaRESUMO
A boy aged 2 months (born at 36 weeks of gestation) was admitted due to cough and dyspnea. After admission, he was found to have persistent hypertension, proteinuria, and persistent convulsion, and imaging examination showed extensive calcification of the aorta and major branches and stenosis of local lumens of the abdominal aorta and the right renal artery with increased blood flow velocity. The boy was admitted during the neonatal period due to wet lung and pulmonary arterial hypertension and was found to have hypertension and proteinuria. High-throughput whole-exome sequencing was performed and found two compound heterozygous mutations in the ENPP1 gene from his parents, c.130C>T (p.Q44X) and c.1112A>T (p.Y371F). c.130C>T was a nonsense mutation, which could cause partial deletion of protein from 44 amino acids, and was defined as a primary pathogenic mutation. c.1112A>T was a missense mutation which had been reported as a pathogenic mutation associated with idiopathic infantile arterial calcification (IIAC). Therefore, he was diagnosed with IIAC. He was given phosphonate drugs, antihypertensive drugs, anticonvulsion treatment, and respiratory support. Blood pressure was maintained at the upper limit of normal value. There was no deterioration of arterial calcification. It is concluded that IIAC should be considered for infants with persistent hypertension and extensive vascular calcification, and imaging and genetic examinations should be performed as early as possible to make a confirmed diagnosis.
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Humanos , Lactente , Masculino , Hipertensão , Recém-Nascido Prematuro , Mutação , Calcificação VascularRESUMO
<p><b>OBJECTIVE</b>To compare the therapeutic efficacy of patients with neonatal ABO hemolytic disease treated with introvenous immunoglobin G (IVIG) by different modes of administration.</p><p><b>METHODS</b>Ninety-three in patients with neonatal ABO hemolytic disease treated in our hospital were divided into group A (31 cases), B(31 cases) and C (31 cases). Based on basic treatment, the patients in group A were treated by a single high dose of IVIG (1 g/kg), patients in group B were treated by multiple low-dose of IVIG (0.5 g/kg), and the patients in group C treated by placebo without IVIG used as controls. The phototherapy time, jaundice time in 3 groups were observed; the total bilirubin levels in 3 groups were compared before and after treatment; the incidence of anemia, the rate of blood transfusion and the occurrence of bilirubin encephalopathy were compared after treatment between 3 groups.</p><p><b>RESULTS</b>The phototherapy time, jaundice time in group A were statistically significantly shorter than those in the group B and C (P<0.05), but there was not statistical significantly difference between group B and C(P>0.05). Before treatment, serum TBIL level in 3 groups was not significantly different (P>0.05); and after treatment for 24 h and 48 h, the serum TBIL levels in group A were significantly lower than that in group B and C (P<0.05); after treatment for 72 h, the serum TBIL level in group A was all lower than 34.2 µmol/L; before treatment, Hb levels in 3 groups were not significantly different (P>0.05); Hb level in group A was significantly higher than that in group B and C after treatment for 24 h, 48 h and 72 h (P<0.05). The incidence of anemia in group A after treatment was significantly lower than that in group B and C, and that in group B significantly lower than that in group C(P<0.05). The rate of blood transfusion in group A was significantly lower than that in the group B and C (P<0.05); the rate of blood transfusion was not statistically significantly different between group B and C(P>0.05).</p><p><b>CONCLUSION</b>The single high dose of IVIG infusion can effectively reduce the serum TBIL level, shorten treatment time and reduce the incidence of anemia and blood transfusion, so the therapeutic efficacy is significantly improved.</p>
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<p><b>OBJECTIVE</b>To explore the effects of blood transfusion on the vital signs and heart function in preterm infants with anemia.</p><p><b>METHODS</b>A total of 40 anemic preterm infants with gestational age less than 34 weeks who accepted blood transfusion one week after birth were enrolled for a prospective cohort study. Left ventricular ejection fraction (LVEF), fractional shortening (FS), stroke volume (SV), and cardiac output (CO) were determined with portable ultrasonic equipment before blood transfusion and within 24 hours after blood transfusion. Apnea was detected and the times of apnea were recorded within 24 hours before and after blood transfusion. The resting body temperature and blood pressure were also determined before and after blood transfusion. Additionally the resting heart rate, respiratory rate, and transcutaneous oxygen saturation were recorded within 4 hours before and after blood transfusion.</p><p><b>RESULTS</b>The heart rate and respiratory rate decreased significantly within 4 hours after blood transfusion (P<0.05). Four infants had apnea within 24 hours before blood transfusion, and nobody had apnea within 24 hours after blood transfusion. The systolic pressure, diastolic pressure, mean arterial pressure, and body temperature showed no significant changes after blood transfusion (P>0.05), and the LVEF, SV, CO, and FS showed no significant changes after blood transfusion as well (P>0.05).</p><p><b>CONCLUSIONS</b>Blood transfusion can improve the clinical symptoms and shows no significant effect on the heart function in preterm infants with anemia.</p>
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Feminino , Humanos , Recém-Nascido , Masculino , Anemia , Terapêutica , Pressão Sanguínea , Transfusão de Sangue , Débito Cardíaco , Coração , Recém-Nascido Prematuro , Respiração , Função Ventricular EsquerdaRESUMO
<p><b>BACKGROUND</b>Open surgery is the preferred approach for the treatment of type D lesions according to the Trans-Atlantic Inter-Society Consensus (TASC) II guideline, but endovascular solutions also appear to be a valid option in selected patients. The study aimed to identify the risk factors of restenosis after open and endovascular reconstruction of symptomatic TASC II D aortoiliac occlusive lesions (AIOLs).</p><p><b>METHODS</b>Fifty-six patients (82 limbs) who underwent open repair and endovascular treatment (ET) for symptomatic TASC ΙΙ D AIOLs between March 2005 and December 2012 were retrospectively reviewed. Baseline characteristics, preoperative and postoperative imaging, and operation procedure reports were reviewed and analyzed. Restenosis after revascularization was assessed by duplex ultrasound or computed tomography angiogram. Kaplan-Meier survival analysis, Log-rank test, and multivariate Cox regression were used to evaluate the relevance between risk factors and patency.</p><p><b>RESULTS</b>The mean duration of follow-up was 42.8 ± 23.5 months (ranging from 3 to 90 months). Primary patency rates at 1-, 3-, 5-, and 7-year were 93.6%, 89.3%, 87.0%, and 70.3%, respectively. Restenosis after revascularization occurred in 11 limbs. Kaplan-Meier survival analysis and the Log-rank test revealed that diabetes, Rutherford classification ≥5 th and concurrent femoropopliteal TASC II type C/D lesions were significantly related to the duration of primary patency. According to the result of Cox regression, diabetes and femoropopliteal TASC ΙΙ type C/D lesions were identified as the risk factors for restenosis after revascularization.</p><p><b>CONCLUSION</b>This study demonstrated that diabetes and femoropopliteal TASC ΙΙ type C/D lesions are risk factors associated with restenosis after open and ET of TASC II D AIOLs.</p>
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Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Angioplastia com Balão , Métodos , Arteriopatias Oclusivas , Cirurgia Geral , Procedimentos Endovasculares , Métodos , Artéria Femoral , Cirurgia Geral , Artéria Ilíaca , Cirurgia Geral , Artéria Poplítea , Cirurgia Geral , Estudos Retrospectivos , Fatores de Risco , Resultado do TratamentoRESUMO
<p><b>OBJECTIVE</b>To study the relationship between the degree of white matter damage and changes in brain function in premature infants early after birth according to amplitude-integrated electroencephalogram (aEEG) and raw EEG (with burst-suppression patterns).</p><p><b>METHODS</b>Thirty-eight premature infants of less than 32 weeks' gestational age and with white matter damage, including 20 cases of mild white matter damage and 18 cases of severe white matter damage, were included in the study. Forty-two premature infants without white matter damage were selected as a control group. After birth, they were examined using aEEG and brain ultrasound once a week until four weeks after birth or a corrected gestational age of 32 weeks. The white matter damage and control groups were compared in terms of aEEG patterns and amplitudes and burst suppression ratio (BSR) on EEG.</p><p><b>RESULTS</b>The white matter damage and control groups had highly discontinuous patterns and had no complete sleep cycles. The lower amplitude was significantly smaller in the severe white matter damage subgroup than in the mild white matter damage subgroup and control group. There was alternating burst-suppression activity on the raw EEG in the white matter damage and control groups; and the severe white matter damage subgroup had a significantly longer suppression time and a significantly higher BSR on EEG compared with the mild white matter damage subgroup and control group.</p><p><b>CONCLUSIONS</b>Brain function monitoring should be performed in premature infants with white matter damage early after birth so as to detect cases of severe white matter damage in time.</p>
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Humanos , Recém-Nascido , Encéfalo , Patologia , Eletroencefalografia , Recém-Nascido Prematuro , Fisiologia , Leucomalácia PeriventricularRESUMO
<p><b>OBJECTIVE</b>To investigate serum procalcitonin (PCT) concentrations in premature infants with different gestational ages at different times after birth.</p><p><b>METHODS</b>A total of 217 neonates without infection, including 102 premature infants and 115 full-term infants, were enrolled in this study. The premature infants were further divided by gestational age into three subgroups: 30-32 weeks (n=30), 33-34 weeks (n=35) and 35-36 weeks (n=37). All the infants were studied to evaluate serum PCT concentrations at 0-12, 13-24, 25-36, 37-48, 49-72, 73-96, 97-120 and 121-144 hours after birth.</p><p><b>RESULTS</b>In the newborns, serum PCT concentrations increased gradually after birth, reached peak values at about 24 hours after birth, and then gradually declined and dropped to normal values for children at about 96 hours after birth. In the premature infants, serum PCT concentrations reached peak values at about 36 hours after birth, later than in the full-term infants, then declined slowly and dropped to levels similar to the full-term infants at 96 hours after birth. Serum PCT concentrations in the 30-32 week subgroup remained at low levels after birth, and increased gradually, later than in other premature infants, at 37-48 hours after birth.</p><p><b>CONCLUSIONS</b>Early after birth, neonates have a changing serum PCT concentration, increasing first and then decreasing. Peak serum PCT levels appear later in premature infants than in full-term infants. Serum PCT concentrations of premature infants with a gestational age of under 32 weeks remain at relatively low levels within 36 hours after birth.</p>
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Humanos , Recém-Nascido , Calcitonina , Sangue , Peptídeo Relacionado com Gene de Calcitonina , Idade Gestacional , Recém-Nascido Prematuro , Sangue , Precursores de Proteínas , Sangue , Fatores de TempoRESUMO
<p><b>OBJECTIVE</b>To explore the effect of DNAX-associated protein 12 (DAP12) pathway on the transformation from mouse monocytes RAW264.7 to osteoclasts induced by tensile strain.</p><p><b>METHODS</b>DAP12shRNA plasmid was constructed and introduced to RAW264.7 cells. Then we supplied tensile strain to RAW264.7 cells by four-point bending system. The mRNA or protein expression of DAP12, tartrate-resistant acid phosphatase (TRAP), tyrosine kinases Btk and Tec and nuclear facior of activated T cells 1 (NFATc1) was measured by reverse transcription PCR (RT-PCR) and Western blotting respectively.</p><p><b>RESULTS</b>The expression of DAP12 mRNA (0.112 ± 0.025) and protein (0.193 ± 0.015) both declined sharply after plasmid being introduced into monocytes RAW264.7 (P < 0.05). After silencing DAP12 expression in RAW264.7 cells by RNA interference, tensile strain-induced TRAP mRNA expression of RAW264.7 cells increased at 6 h (0.671 ± 0.031) and 12 h (0.800 ± 0.043) (P < 0.05), but it was weaker than non-RNA-interference-groups at each time point (P < 0.05). After silencing DAP12 expression in RAW264.7 cells by RNA interference, the expressions of Btk, Tec, NFATc1 increased as time passed (6, 12 h) (P < 0.05), but the expressions on corresponding time decreased sharply compared with those in control groups (P < 0.05).</p><p><b>CONCLUSIONS</b>DAP12 pathway play an important role in regulating osteoclast differentiation induced by tensile strain.</p>
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Animais , Camundongos , Fosfatase Ácida , Genética , Metabolismo , Proteínas Adaptadoras de Transdução de Sinal , Genética , Metabolismo , Diferenciação Celular , Linhagem Celular , Regulação da Expressão Gênica , Inativação Gênica , Isoenzimas , Genética , Metabolismo , Monócitos , Biologia Celular , Metabolismo , Fatores de Transcrição NFATC , Metabolismo , Osteoclastos , Biologia Celular , Plasmídeos , Proteínas Tirosina Quinases , Metabolismo , RNA Mensageiro , Metabolismo , RNA Interferente Pequeno , Transdução de Sinais , Fosfatase Ácida Resistente a Tartarato , Resistência à TraçãoRESUMO
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.
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Criança , Humanos , Masculino , Síndrome de Cockayne , Diagnóstico , Genética , Terapêutica , Diagnóstico DiferencialRESUMO
<p><b>OBJECTIVE</b>To investigate the surgical treatment of mid-distal humeral shaft fractures associated with radial nerve palsysis with minimal invasive screwed nails osteosynthesis technique.</p><p><b>METHODS</b>Thirty-six patients treated mid-distal humeral shaft fractures associated with radial nerve palsysis from January 2004 to January 2008. There were 28 males and 8 females whose age ranged from 20- to 58-years-old with an average of 36.5-years-old. Injury reasons: mechanical injury 18 cases, traffic injury 8 cases, accidents injury 10 cases, all cases were closed fracture. According to AO/ASIF classification, type A1 5 cases, type A2 7 cases, type B1 8 cases, type B2 7 cases, type B3 5 cases, type C3 4 cases. The small lateral incision was performed located to the fracture. After exploration of the radial nerve, the fractures were reduced. By acromion small lateral incision, the deltoid was separated. In the posterior macronodular slotted antegrade reamed bored with medullary cavity drill and selected a suitable screwed nail screwed into the medullary cavity distal. Along the slot, the locking pieces were inserted to complete the fixation. The postoperative complication, fracture healing time, radial nerve function recovery time, the motion of shoulder and elbow were recorded.</p><p><b>RESULTS</b>The incision of all cases healed with stage I . The patients were followed up for 9-36 weeks with an average of 18.5 weeks. The X-ray examination showed fractures healing in 12-16 weeks (average of 15.6 weeks). Radial nerve function recovered fully at 12-36 weeks after operation (average of 17.8 weeks). Shoulder abduction is 150 degrees-170 degrees with an average of 160 degrees; elbow motion of activities was 130 degrees-140 degrees with an average of 135 degrees. The ASES method was used to assess the shoulder joint function, 20 cases gained the excellent result, 12 good and 4 poor. And according to HSS method, 36 cases of elbow joint function gained the excellent result.</p><p><b>CONCLUSION</b>The surgical treatment of mid-distal humeral shaft fractures associated with radial nerve palsysis with minimal invasive screwed nails osteosynthesis technique is effective.</p>
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Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Pinos Ortopédicos , Parafusos Ósseos , Fixação Interna de Fraturas , Fraturas do Úmero , Cirurgia Geral , Úmero , Ferimentos e Lesões , Cirurgia Geral , Fixadores Internos , Paralisia , Cirurgia Geral , Nervo Radial , PatologiaRESUMO
<p><b>OBJECTIVES</b>To understand the value of measuring neonatal cerebral regional oxygen saturation (rSO2) using near infrared spectroscopy (NIRS) in assessing cerebral oxygenation, to establish the normal range of neonatal cerebral rSO2 and to collect data of the changes of cerebral rSO2 under certain disease status.</p><p><b>METHODS</b>Nine large hospitals participated in the multicenter randomized clinical trial from Jan 2007 to Apr 2008. Using the NIRS human tissue oximeter (TSAH-100) independently developed in China, the cerebral rSO2 of 223 normal full-term and 95 otherwise healthy preterm neonates without any special disease, was detected at 1, 2 and 3 days after birth, respectively. The cerebral rSO2 of 102 neonates with diseases which may affect the cerebral oxygenation, was also detected during the severe phases. The pulse oxygen saturation (SpO2) measured at the finger tip, and also the arterial oxygen saturation (SaO2) measured by blood gas analysis, which could indicate the oxygen supply of the whole body, were obtained simultaneously. The correlations among cerebral rSO2, pulse SpO2 and arterial SaO2 were analyzed.</p><p><b>RESULTS</b>(1) The cerebral rSO2 of the normal full-term neonates was (62+/-2)%. Cerebral hypoxia was defined as rSO2 lower than 58%. The cerebral rSO2 of the normal full-terms was steady at 1, 2 and 3 days after birth respectively, without any significant differences among them (F=0.610, P>0.05). The cerebral rSO2 of the neonates with diseases was (55+/-7)%, which was significantly lower than that of the normal full-term neonates (t=15.492, P<0.05). (2) The cerebral rSO2 was positively correlated with the SpO2 (r=0.74, P<0.01) and the SaO2 (r=0.71, P<0.01). (3) Under some special diseases, the changes of cerebral rSO2 was asynchronous with those of the SpO2: (1) For 18 cases under severe cerebral damages or under relatively low hemoglobin concentration, the cerebral rSO2 was significantly low (50%-58%), but the SpO2 was still normal (above 90%). (2) During the recovery of some critically ill neonates, the increase of cerebral rSO2 was lagged as compared with that of pulse SpO2. Especially, during the severe phases of 6 cases with multi-organ failure, the SpO2 and the cerebral rSO2 were both significantly low (55%-80% for SpO2, and 44%-50% for cerebral rSO2); when the diseases were alleviated, although the SpO2 recovered to above 85%, the cerebral rSO2 was still significantly low (around 50%). (3) In 3 cases, during the severe phases of serious hypoxic-ischemic encephalopathy (HIE), the cerebral rSO2 significantly increased to 70%-72%, which was significantly higher than the normal value (62%).</p><p><b>CONCLUSIONS</b>The range of cerebral rSO2 of the normal full-term neonates was (62+/-2)%. Cerebral oxygenation can be externally indicated by the rSO2 noninvasively and continuously measured by NIRS, which was positively correlated with traditional pulse SpO2 and arterial SaO2. In some special diseases, the rSO2 measured by NIRS can be helpful for clinical diagnoses and treatments.</p>
Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Peso ao Nascer , Encéfalo , Metabolismo , Hipóxia Encefálica , Diagnóstico , Oximetria , Métodos , Oxigênio , Espectroscopia de Luz Próxima ao InfravermelhoRESUMO
<p><b>OBJECTIVE</b>To investigate the frequencies of primary biliary cirrhosis (PBC)-specific autoantibodies, including antimitochondrial autoantibodies (AMA) M2, anti-gp210 and anti-Sp100, and to assess their point prevalence rates in a general adult population group in Guangzhou.</p><p><b>METHODS</b>Eight thousand one hundred twenty-six adults (mean age 43.5+/-14.6 years, range 18 to 83 years; 4248 males and 3878 females) were enrolled for this study. AMA and anti-nuclear antibodies (ANA) were screened by indirect immunofluorescence test and AMA-M2, anti-gp210 and anti-sp100 were further detected using ELISA or immunoblotting assay. PBC diagnosis was made according to criteria recommended by AASLD in 2000.</p><p><b>RESULTS</b>Of the 8126 adults tested, 35 (0.43%) and 79 (0.97%) were found to be positive for AMA and ANA. The positivity for both of AMA and ANA increased with aging. Twenty-two cases were positive for PBC-specific autoantibodies. Frequencies for AMA-M2, anti-sp100 and anti-gp210 in the general adult population were 0.23%, 0.05% and 0.04% respectively and their frequency reached 0.62% in women over 40 years. A woman among the 22 cases who was PBC-specific autoantibody positive was finally diagnosed as a PBC patient.</p><p><b>CONCLUSION</b>Our data indicates that PBC specific autoantibodies exist in the general adult population at very low frequencies and the point prevalence rate of PBC in adults in Guangzhou is not less than that of other areas.</p>
Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Especificidade de Anticorpos , Autoanticorpos , Sangue , Cirrose Hepática Biliar , Alergia e Imunologia , PrevalênciaRESUMO
<p><b>OBJECTIVE</b>To investigate the clinical manifestations, imaging characteristics as well as prognosis of neonatal polycythemia complicated with brain damage.</p><p><b>METHODS</b>One hundred and sixteen in-patients with neonatal polycythemia admitted to our hospital during January 2003 to October 2005 were analyzed. Their clinical manifestations were observed. Craniocerebral ultrasonic examination (2D, 3D), CT and MRI were employed to dynamically observe the craniocerebral imaging variances as well as the cerebral hemodynamic variations and near infrared spectroscopy (NIR) was adopted to test the cerebral oxygenation. Twenty-two cases with moderate or severe disease were followed up for 3 to 12 months.</p><p><b>RESULTS</b>Out of the 116 polycythemic neonates, 53 cases had brain damages, of whom 31 had mild, 14 had moderate, and 8 had severe damages. Cranial imaging alterations were mostly ischemic injuries of various areas of different severity. The severity of brain damage was closely related to the duration of polycythemia, oxygen saturation of cerebral tissues as well as cerebral hemodynamic abnormalities. Brain injury was likely to occur in those whose polycythemia persisted for more than three days. The regional saturation of oxygen (rSO(2)) in mild brain injury cases was found to be 52.1%, while it was 47.1% in moderate and severe brain injury cases. Compared to the 58% as found in non-brain injury cases, the variance was found to be statistically significant (F = 104.466, P < 0.01). Among the cases with brain injury, cerebral hemodynamics displayed a slowdown in the blood flow velocity in the cerebral anterior artery and medium artery during the systolic phase and/or the diastolic phase. The abnormality ratio was closely related to the severity of brain injury. Through the chi(2) test the variance was proved to be statistically highly significant (chi(2) = 18.889, P < 0.01), however it was not correlated with the increase of the initial levels of hemoglobin (Hb) and hematocrit (HCT) (P > 0.05). During the follow up, neurological developmental abnormalities of various severity were found to exist in the cases with moderate (5/12) and severe disease (7/8), while cerebral palsy or epilepsy was not yet found.</p><p><b>CONCLUSION</b>Neonatal polycythemia might tend to bring about a reduction in the perfusion of cerebral blood flow and damaged cerebral oxygenation metabolism which in turn might lead to cerebral ischemic injury, which in some of the moderate and severe cases might lead to long-term neurological complications. Imaging investigations especially craniocerebral ultrasonic examination could be the practical means for the early diagnosis and evaluation of prognosis.</p>