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Objective To investigate the diagnostic value of contrast-enhanced ultrasound(CEUS)combined with serum Smad ubiquitin regulatory factor 1(SMURF1)detection for thyroid cancer.Methods A total of 144 suspected thyroid cancer patients admitted to Lishui branch of Zhongda Hospital Affiliated to Southeast University from February 2019 to February 2020 were selected as the study subjects.Based on the histopathological results,they were divided into the thyroid cancer group(76 cases)and the benign group(68 cases).All patients underwent contrast-enhanced ultrasound examination and serum SMURF1 level detection;the diagnostic value of contrast-enhanced ultrasound parameters,serum SMURF1 detection alone,and the combination of the two methods for thyroid cancer were analyzed.Results Contrast-enhanced ultrasound parameters peak intensity(PI),mean perfusion intensity(SImean)and maximum perfusion intensity(SImax)in the thyroid cancer group were lower than those in the benign group,and the level of SMURF1 mRNA was higher than that in the benign group(P<0.05).The sensitivity of contrast-enhanced ultrasound parameter SImax in the diagnosis of thyroid cancer was 82.89%,the specificity was 72.06%,the accuracy was 77.78%,and the Kappa value was 0.552.The sensitivity of serum SMURF1 in the diagnosis of thyroid cancer was 65.79%,the specificity was 94.12%,the accuracy was 79.17%,and the Kappa value was 0.589.The sensitivity,specificity,accuracy and Kappa value of SImax combined with serum SMURF1 in the diagnosis of thyroid cancer were 97.37%,85.29%,91.67%and 0.832,respectively,which were higher than those of SImax and SMURF1 alone(P<0.05),the AUC of the combination of the two methods was 0.927,which was significantly higher than that of the two methods alone(Zcombined vs.SImax=3.999,P<0.001;Zcombined vs.SMURF1=3.270,P=0.001).Conclusion Contrast-enhanced ultrasound combined with serum SMURF1 detection can improve the diagnostic efficiency of thyroid cancer,which may avoid the over-diagnosis on the premise of ensuring the effective diagnosis of thyroid cancer patients.
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Objective:To summarize the clinical manifestations and determine the molecular etiology for three KCNMA1-related neurological disorders.Methods:A retrospective clinical data analysis was performed on 3 patients with clinically and genetically diagnosed neurological diseases related to KCNMA1 gene variants who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University from January 2020 to December 2022.Results:Case 1, a 4-year-old and 8-month-old female, was diagnosed with " episodes of head-raising and lowering for 11 months". The electroencephalogram (EEG) showed background theta rhythm in the occipital area, with mainly sharp waves and peaks in the bilateral central, parietal, occipital and temporal areas. Slow waves were scattered or paroxysmal, affecting the central, parietal, and temporal areas on the right side. Levetiracetam was given as an anti-epileptic treatment, and the seizures were completely controlled. Physical examination revealed unclear articulation and short stature. The patient′s mental development has been delayed since childhood. After 2 years of rehabilitation treatment, his motor development was normal and his language development was slightly delayed. Whole-exome sequencing found a novel c. 1807A>G (p.Thr603Ala) mutation in the KCNMA1 gene, which was graded likely pathogenic (LP). Case 2, a male, 1 year and 4 months old, went to the hospital because of " recurrent stupor attacks for more than 6 months". Nearly 20 epileptic events were detected on the electroencephalogram. Levetiracetam, sodium valproate and clonazepam were administered successively. Seizure treatment, complete seizure control. Brain magnetic resonance imaging (MRI) showed poor cerebellar development. Development was lagging behind that of normal children of the same age. Whole-exome sequencing found a novel c. 756C>A (p.Phe252Leu) mutation in the KCNMA1 gene, which was graded LP. Case 3, a 16-month-old female, went to the hospital because of " trembling upper limbs, slurred speech for more than 10 years, and unsteady gait for 8 years." The electroencephalogram showed no abnormalities, and brain MRI showed cerebellar atrophy. Physical examination: unclear speech, unsteady grasping of objects with both hands, muscle strength of limbs level 4, and ataxic gait. Whole-exome sequencing found a novel c. 1051T>C (p.Ser351Pro) mutation in the KCNMA1 gene, which was graded LP.Conclusions:The core phenotypes of KCNMA1 gene mutation-related neurological diseases include epilepsy, neurodevelopmental disorders and paroxysmal dyskinesia, and cerebellar atrophy is common in brain MRI.
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Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.
Subject(s)
Humans , Male , Female , Child , Infant , Intellectual Disability/genetics , Mental Retardation, X-Linked/pathology , Obesity/complications , Hypogonadism/pathology摘要
More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.
Subject(s)
Child , Female , Humans , Male , Epilepsy/genetics , Intellectual Disability/genetics , Muscle Hypotonia/complications , Mutation , Phenotype , Seizures/genetics , Strabismus/complications摘要
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
Subject(s)
Child , Humans , Abnormalities, Multiple , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Mutation , Proto-Oncogene Proteins B-raf/genetics摘要
Objective To investigate the risk factors affecting early stage Ⅱ and Ⅲ gastroesophageal junctional adenocarcinoma lymph node metastasis,and to explore the impact of lymph node metastasis on prognosis.Methods From Jan 2007 to Jan 2014,220 early stage Ⅱ/Ⅲ gastroesophageal junction adenocarcinoma cases underwent radical resection and were followed-up.Kaplan-Meier analysis was made on lymph node metastasis in relation with patient prognosis.Results Lymph node metastasis rate was 13.1% in the early stage Ⅱ and Ⅲl gastroesophageal junction adenocarcinoma,tumor diameter ≥2 cm,undifferentiated type and infiltrating submucosa were independent risk factors for early stage Ⅱ/Ⅲ AEG lymph node metastasis.The l-year overall survival rates of patients with early stage Ⅱ / Ⅲ AGE lymph node metastasis and without lymph node metastasis were 93.1% (27/29) and 98.4% (188/191),P =0.130.The 3-year overall survival rates of the lymph node metastasis group and without lymph node metastasis group were65.5% (19/29) and 91.6% (175/191),respectively.(P=0.000).Conclusion Patients with early stage Ⅱ and Ⅲ gastroesophageal junctional adenocarcinoma with tumor diameter ≥ 2 cm,undifferentiated and infiltrating submucosa have a higher risk of lymph node metastasis,which is related to poor prognosis.
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Objective@#To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation.@*Methods@#The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized.@*Results@#The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a de novo heterozygous variation c.524A>G (p.D175G) in CSNK2A1 gene. This was the first case report of CSNK2A1 gene variation in the mainland of China. So far, a total of 52 cases were reported worldwide (52 single nucleotide variants), including 35 cases in 7 articles, 9 cases in Decipher database and 14 cases in ClinVar database, 6 of which were also reported in PubMed. In previously reported 52 cases, there were 48 missense variants, whereas, splice and frameshift variations were found in 3 cases and 1 case, respectively. Among the variation sites, p.K198R was the most common sites (12 cases), followed by p.R47 (6 cases), p.R80H (4 cases) and p.S51 (4 cases). Among these 52 cases, only 27 cases have been elaborately described in other studies, so the clinical characteristics were summarized in 28 cases eventually (including 27 cases in the articles and this patient), 27 of whom presented severe intellectual disability or global development delay, 1 case with mild language development delay, and 19 had hypotonia; 8 had autism spectrum disorders, 5 had attention deficit hyperactivity disorder, and 9 had sleep problems. 20 had dysmorphic facial features, 10 of them had microcephalus. 16 had failure to thrive or short stature, 12 had gastrointestinal or oromotor problem, 5 had immunological problem, and 4 had skin abnormalities.@*Conclusions@#The main clinical feature of patients with CSNK2A1 gene variations is intellectual disability with multiple systems involved, such as microcephalus, abnormal facial shape and hypotonia. The variation of CSNK2A1 gene is the cause of Okur-Chung syndrome. Missense variation is the main cause, and P. K198R is the hotspot variation.
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Objective@#To investigate the clinical significance of Wiguide needle guidance ultrasound technology in radial artery puncture.@*Methods@#One hundred and thirty-five patients who would receive elective surgery requiring radial artery puncture and catheterization to monitor invasive blood pressure were randomly divided into 3 groups(n=45): blind puncture group(group A), ultrasound puncture group(group B) and Wiguide needle guidance ultrasound puncture group(group C). The diameter and depth of radial artery, blood return time, puncture time for the process and the puncture success rate were recorded and compared.@*Results@#There was significant diffeence in the blood return time among three groups (P=0.039), the blood return time in group B was higher than in group A and C (P=0.029, 0.027). The difference was statistically significant in the puncture time among three groups (P=0.002), the puncture time in group B was higher than in group A and C (P=0.009, 0.001). The puncture success rate in group A was 71.11%, the puncture success rate were 100% in both group B and C.@*Conclusions@#Wiguide needle guidance ultrasound technology could effectively improve the skill of vascular puncture, which shortens the puncture time and improves the success rate of puncture. Wiguide needle guidance ultrasound technology provides benefits to master the ultrasound-guided vascular puncture for clinical work.
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Epilepsy is one of the commonest neurological disorder, and genetic factors play a major role in the etiology of epilepsy disorders. In recent years, more and more attention has been paid on the study of potassium channel and epilepsy. The classification of potassium channels is complex, and variants in these genes can lead to a variety of phenotypes from the severest to the mildest, from early infantile epileptic encephalopathy (EIEE) to benign familial neonatal convulsion (BFNC). Moreover, patients with mutations in the same gene may exhibit with distinctive clinical manifestations, the channel dysfunction caused by the variants is correlated with the severity of the disorder. To achieve accurate treatment, the change of channel function is needed to be studied, and more attention should be paid on the development of targeted drugs.
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Objective@#To explore the clinical features and genetic characteristics of myoclonic-atonic epilepsy (MAE) caused by SLC6A1 gene mutation.@*Methods@#The clinical data of a patient with SLC6A1 gene mutation from Xiangya Hospital of Central South University was collected. The related literatures were reviewed from Wanfang Data, China National Knowledge Infrastructure, PubMed (until July 2019) by using keywords " SLC6A1" and " myoclonic-atonic epilepsy" . The characteristics of SLC6A1 gene mutation and the clinical phenotype of children with myoclonic-atonic epilepsy were summarized.@*Results@#A 8 year and 8 months old girl was enrolled in the study. Her first attack happened at the age of 19 months, and multiple seizure types including myoclonic-atonic, atonic and absence were observed. The seizures were well controlled by valproate (VPA), but she has mild-moderate intellectual disability. Whole exome-sequencing study identified a de novo nonsense variant of c. 46G>T(p.Glu16*)in SLC6A1 gene. A total of 27 cases including the present case with SLC6A1 gene mutation were analyzed. 22 mutations were identified, including 11 missense mutations, 5 nonsense mutations, 3 frameshift mutations, 2 splicing mutation and 1 with chromosome microdeletion. Among them 26 patients had more one type of seizures, 20 cases had absence seizures, 17 cases had atonic seizures, 14 cases had myoclonic seizures, 11 cases had myoclonic-atonic seizures, 4 cases had generalized tonic-clonic seizures, 3 cases had eyelid myoclonias, 2 cases had nonconvulsive status epilepticus and 2 cases had tonic seizure. 24 patients had described intelligence assessment. Among them, 18 had developmental delay before epilepsy onset, 11 had developmental regression after onset. There were 9 cases with autistic features, 4 cases with attention deficit hyperactivity disorder and 3 cases with ataxia. The seizures of 17 cases were controlled, 4 cases had partial seizure control, 3 cases had no significant improvement, and other 3 cases were unclear.@*Conclusions@#The main clinical feature of MAE patients with SLC6A1 gene mutations is absence and atonic seizures, cognition before epilepsy onset can be impaired, and some patients had behavioral problems, such as autistic features or attention deficit hyperactivity disorders. VPA is recommend as first-line treatment.
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Epilepsy is one of the commonest neurological disorder,and genetic factors play a major role in the etiology of epilepsy disorders.In recent years,more and more attention has been paid on the study of potassium channel and epilepsy.The classification of potassium channels is complex,and variants in these genes can lead to a variety of phenotypes from the severest to the mildest,from early infantile epileptic encephalopathy (EIEE) to benign familial neonatal convulsion (BFNC).Moreover,patients with mutations in the same gene may exhibit with distinctive clinical manifestations,the channel dysfunction caused by the variants is correlated with the severity of the disorder.To achieve accurate treatment,the change of channel function is needed to be studied,and more attention should be paid on the development of targeted drugs.
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Objective To explore the clinical features and genetic characteristics of myoclonic-atonic epilepsy (MAE) caused by SLC6A1 gene mutation.Methods The clinical data of a patient with SLC6A1 gene mutation from Xiangya Hospital of Central South University was collected.The related literatures were reviewed from Wanfang Data,China National Knowledge Infrastructure,PubMed (until July 2019) by using keywords "SLC6A1" and "myoclonic-atonic epilepsy".The characteristics of SLC6A1 gene mutation and the clinical phenotype of children with myoclonic-atonic epilepsy were summarized.Results A 8 year and 8 months old girl was enrolled in the study.Her first attack happened at the age of 19 months,and multiple seizure types including myoclonic-atonic,atonic and absence were observed.The seizures were well controlled by valproate (VPA),but she has mild-moderate intellectual disability.Whole exome-sequencing study identified a de novo nonsense variant of c.46G > T(p.Glu16 *)in SLC6A1 gene.A total of 27 cases including the present case with SLC6A1 gene mutation were analyzed.22 mutations were identified,including 11 missense mutations,5 nonsense mutations,3 frameshift mutations,2 splicing mutation and 1 with chromosome microdeletion.Among them 26 patients had more one type of seizures,20 cases had absence seizures,17 cases had atonic seizures,14 cases had myoclonic seizures,11 cases had myoclonic-atonic seizures,4 cases had generalized tonic-clonic seizures,3 cases had eyelid myoclonias,2 cases had nonconvulsive status epilepticus and 2 cases had tonic seizure.24 patients had described intelligence assessment.Among them,18 had developmental delay before epilepsy onset,11 had developmental regression after onset.There were 9 cases with autistic features,4 cases with attention deficit hyperactivity disorder and 3 cases with ataxia.The seizures of 17 cases were controlled,4 cases had partial seizure control,3 cases had no significant improvement,and other 3 cases were unclear.Conclusions The main clinical feature of MAE patients with SLC6A1 gene mutations is absence and atonic seizures,cognition before epilepsy onset can be impaired,and some patients had behavioral problems,such as autistic features or attention deficit hyperactivity disorders.VPA is recommend as first-line treatment.
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Objective To investigate the clinical significance of Wiguide needle guidance ultrasound technology in radial artery puncture . Methods One hundred and thirty‐five patients who would receive elective surgery requiring radial artery puncture and catheterization to monitor invasive blood pressure were randomly divided into 3 groups( n =45) :blind puncture group( group A ) ,ultrasound puncture group( group B) and Wiguide needle guidance ultrasound puncture group ( group C ) . T he diameter and depth of radial artery ,blood return time ,puncture time for the process and the puncture success rate were recorded and compared . Results T here was significant diffeence in the blood return time among three groups ( P =0 .039) ,the blood return time in group B was higher than in group A and C ( P = 0 .029 ,0 .027 ) . T he difference was statistically significant in the puncture time among three groups ( P =0 .002) ,the puncture time in group B was higher than in group A and C ( P =0 .009 ,0 .001) . T he puncture success rate in group A was 71 .11% ,the puncture success rate were 100% in both group B and C . Conclusions Wiguide needle guidance ultrasound technology could effectively improve the skill of vascular puncture ,which shortens the puncture time and improves the success rate of puncture . Wiguide needle guidance ultrasound technology provides benefits to master the ultrasound‐guided vascular puncture for clinical work .
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OBJECTIVE@#To study the application value of surface electromyography in children with dysphagia.@*METHODS@#A total of 20 children with dysphagia were enrolled as the observation group, and 20 healthy children, matched for sex and age, were enrolled as the control group. Surface electromyography was used to record the electromyography integral values of the submental and infrahyoid muscle groups in the resting state and the state after water swallowing. The two groups were compared in terms of the electromyography integral values of the submental and infrahyoid muscle groups in the resting state and the state after swallowing 5 mL water. The observation group was observed in terms of the changes in the electromyography integral values of the submental and infrahyoid muscle groups after 1 month of rehabilitation treatment. A Spearman correlation analysis was used to evaluate the correlation of the degree of dysphagia with the electromyography integral values of the submental and infrahyoid muscle groups in the observation group.@*RESULTS@#There was no significant difference between the two groups in the electromyography integral values of the submental and infrahyoid muscle groups in the resting state (P>0.05), while after water swallowing, the observation group had significantly higher electromyography integral values than the control group (P<0.05). The observation group had significant improvements in the clinical symptoms of dysphagia after treatment, with significant reductions in the electromyography integral values of the submental and infrahyoid muscle groups (P<0.05). The severity of dysphagia was positively correlated with the electromyography integral values of the submental and infrahyoid muscle groups (P<0.01).@*CONCLUSIONS@#Surface electromyography is useful in the diagnosis and therapeutic effect evaluation for dysphagia in children.
Subject(s)
Child , Humans , Deglutition , Deglutition Disorders , Electromyography摘要
To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus. Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed. Results: Of the 24 cases, 8 had a full recovery, 11 had slight sequela, 2 had severe sequela, 1 was in vegetative state, and 2 died because of bacterial meningitis and tubercular meningitis. Epilepsy, mental impairment, visual and hearing damage were the main sequelae. Conclusion: Ventricular shunt is the preferred treatment in children with post-infective hydrocephalus, which shows positive clinical efficacy and can improve the long-term prognosis of such patients.
Subject(s)
Child , Humans , Hydrocephalus , Retrospective Studies , Treatment Outcome , Tuberculosis, Meningeal , Ventriculoperitoneal Shunt摘要
BACKGROUND: Dietary intervention may be the most available, safe, economic and efficient approach to treat spinal cord injury. OBJECTIVE: To observe the effects of dietary restriction in the form of every-other-day fasting (EODF) on the pathological changes and functional recovery of rats with clip-compression injury of the spinal cord. METHODS: The models of spinal cord injury were established by a medical aneurysm clip in 36 Sprague-Dawley rats, and model rats were then randomized into four groups: group A with spinal cord injury and EODF, group B with spinal cord injury, group C with sham operation and EODF, and group D with sham operation. Food intake and body mass were observed. Motor functional recovery in rats was assessed by Basso, Beattie, Bresnahan scores at preoperative 1 day and postoperative 1 day, 1, 2, 4, 6, 8, 10, and 12 weeks. At 12 weeks after operation, the morphological changes of the spinal cord were observed through hematoxylin-eosin staining. RESULTS AND CONCLUSION: The Basso, Beattie, Bresnahan score in the group B was decreased to the lowest at postoperative 1 day, and gradually increased with time. At 8-12 weeks after operation, the scores in the group A were significantly superior to those in the group B. At 12 weeks after operation, hematoxylin-eosin staining showed less lesion of the spinal cord in the group A than the group B. These results indicate that EODF can improve the motor functional of rats with spinal cord injury, and exerts effective protection on the injured spinal cord.
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Detecting sensitivity of cardiac troponin (cTn) has become higher and higher ,and it has been enrolled in preferred predictors for cardiovascular event risk .CTn level is significantly correlated with short-term mortality of patients and sudden mortality of patients with stable hemodynamics .It calls for prospective investigation in different districts to define potential role and its prognostic value guiding treatment for cTn level increase in different pa-tients .The present study made a review on research progress of this research in recent years .
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Objective To summarize the clinical features of global developmental delay (GDD) children,and to explore the relationship between severity of GDD and social-culture factors.Methods Sign the informed consent before enrollment.Collect clinical data in detail about 100 GDD children (GDD group) and 95 children with normal development (healthy control group),and analyze their regular clinical data,physical examination,intellectual disability test,electroencephalography (EEG) and cranial imaging test.Spearman rank correlation was used to analyze the differences of social and cultural factors between GDD group and healthy control group,such as maternal reproductive age,parental education level and family economic status.At the same time,we compared the lag degree of total developmental quotient and the degree of developmental retardation of five energy areas with the above factors.Results Significant associations were found between GDD and maternal/paternal education,economic level of family,but no sgnificant association was found between maternal age and GDD.And analysis in the relationship between severity of delay in all domains of the child's developmental status about language and social-culture factors,we only obtained the severity of delay in abilities about language is related with maternal education.Spearman rank correlation statistics explains that if there are the lower level of education with mothers,the delay of language domain will more severe (rs =-0.505,P < 0.05).Conclusions Significant associations were found between GDD and maternal/paternal education,economic level of family.The higher maternal education was an important protective factor against risk of GDD.Improving the cognition of parents in child health care,early be diagnosed,early be intervened,is the most important for children with language development.
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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.
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@#The advanced natural products chemistry researches accomplished by Chinese domestic scholars in 2017 have been reviewed in this survey. Selected naturally occurring compounds generally have extraordinary frameworks and/or significant bioactivities. A total of 139 distinctive compounds reported in 122 peer-reviewed publications were highlighted. Their origins, structural characteristics and promising bioactivities are introduced and illustrated herein mainly based on their structural classes and novelties.