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Type Ⅰ sialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase. It is an autosomal recessive disorder, maybe heterogeneous in its onset, clinical manifestations and prognosis. A case of type Ⅰ sialidosis with a missense mutation in the α-N-acetyl-neuraminidase (NEU1) gene is reported. The patient was characterized by reduced visual acuity, ataxia and subcortical myoclonus. Although the macular cherry red spots were not detected in the male patient, his bilateral visual evoked potential showed severely prolonged latencies of P100, which was consistent with continuous decline of his visions. Finally, he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus. In order to make the definite diagnosis, the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted. Regardless of being an uncommon disorder, the burden for those patients with sialidosis was significant. Therefore, this diagnosis in the relevant setting should always be considered.
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Objective To conduct mutation screening of SCN1A 3′ untranslated region (UTR) on Dravet syndrome (DS) patients without mutations in the SCN1A coding region and promoter region, and functional analysis of the variant from DS patients.Methods Twenty-eight DS patients without mutations in the SCN1A coding region and promoter region were screened for SCN1A 3′ UTR mutations using PCR and direct sequencing.Functional analysis of the detected mutation was done via luciferase assay, mRNA stability analysis and RNA electrophoretic mobility shift assay (RNA-EMSA).Results A novo variant (c.*20A>G) in SCN1A 3′ UTR was found in one DS patient.The variant (c.*20A>G) reduced the luciferase gene xpression by 30% through increasing the affinity of pluripotent embryonal carcinoma cell line NT2/cytoplasmic protein binding and reducing luciferase gene mRNA stability (t=8.5,P<0.01).Conclusions A functional variant was detected from one patient with DS.This variant negatively regulated the gene expression by increasing the affinity of pluripotent embryonal carcinoma cell line NT2/cytoplasmic protein binding and reducing mRNA stability.
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Objective To evaluate the accuracy of presurgically resting-state fMRI(rs-fMRI) with subject order-independent group independent component analysis(ICA), compared to electric cortical stimulations. Methods Twenty-three patients with the lesion in motor area, which were recorded by our hospital from Jan, 2014 to Dec, 2015, were collected as the study sample. The data of 9 patients were excluded because of excessive head motion. As a result, 14 patients were included in this study. Rs-fMRI data before the surgery and the results of electric cortical stimulations were collected. Results All of this 14 patients were preoperatively located by rs-fMRI with SOI-GICA, including all the SMA and the ipsilesional primary motor area. On the side with lesion, the number of functional location of motor area was decreased compared with healthy side. Evaluate the accuracy of ICA by comparing the coincidence rate of these two techniques, based on the standardized electrical cortical stimulation in operation. The completely concordance between rs-fMRI with the SOI-GICA and electrical cortical stimulation in operation was 11 (11/14). Meanwhile the basically concordance of corresponded case was 3(3/14). Conclusions Rs-fMRI with the ICA has a relatively high accuracy rate in localizing motor area. Rs-fMRI has a remarkably referential contribution to the presurgically function assessment and surgical planning in implementation.
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Objective:To explore therapeutic effect and safety of endovascular stenting on transient ischemic attack (TIA) caused by atherosclerotic vascular stenosis .Methods:A total of 100 patients with TIA caused by vascular ste-nosis in our hospital from Jan 2011 to Feb 2013 were enrolled ,and equally divided into combined treatment group (received endovascular stenting combined medication ) and routine treatment group (received medication treat-ment) .After 12-month treatment ,recurrence rate of TIA ,incidence rate of stroke and vascular stenosis rate before and after treatment were compared between two groups .Results:Compared with before treatment ,there was no significant change in all above-stated indexes after treatment in routine treatment group;were significant reduction in vascular restenosis rate [ (73.31 ± 12.76)% vs .(25.01 ± 5.73)% ] in combined treatment group ,and it signifi-cantly reduced than that of routine treatment group (74.33 ± 12.96)% ,P<0.01 both ;during the 12-month follow-up ,compared with routine treatment group , there were significant reductions in percentages of recurrent TIA (16.0% vs .2.0% ) and cerebral stroke (12.0% vs .0) in combined treatment group ,P<0.05 both Conclusion:En-dovascular stenting can significantly improve clinical therapeutic effect and prognosis in patients with atherosclerotic vascular stenosis ,and is worth clinical extension in some condition .
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Objective To evaluate if MS-CTA can be the primary and sole evaluative criteria for the treatment of intracranial aneurysms by microsurgery clipping. Methods Between January 2008 and October 2010, 105 patients with intracranial aneurysm underwent microsurgery clipping in our institution were respectively analyzed, out of which 39 patients with preoperative MS-CTA (64- or 320-slice CT scanner) examinations (MS-CTA group) , 21 with MS-CTA combined with DSA and 45 with DSA ( DSA group). The aneurismal size, neck, morphous and peripheral branches were compared between the CTA data and operative results, and the concordance between which were analyzed. The rate of operative complication and the GOS scale at discharge were also compared between MS-CTA group and DSA group. t test, Chi-Square test or Rank test were used for analysis of the patients' baseline data, Kappa test for the concordance between MS-CTA and operative results, Kruskal-Wallis test for operative complication and Mann-whitney test for the GOS at discharge between MS-CTA group and DSA group. Results Thirty-seven patients out of the MS -CTA group obtained successful microsurgery clipping, with 1 transferred to coil embolization because of the difficulty in exposing the aneurismal neck and 1 to decompressive craniectomy because of aneurismal rebleeding at removal cranium. There was a good concordance between MS-CTA and operative results on depicting aneurysmal size and neck ( κ =0.726 ,κ =0. 756) and a ordinary concordance on morphous and peripheral branches ( κ =0.524, κ =0.473). There was no significant difference on the rate of operative complication (P =0.509) and GOS scale (P =0.239) at discharge. Conclusions MS-CTA can reveal the important characteristics of intracranial aneurysms, and has a high safety as being the primary and sole criteria before microsurgery clipping.
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Objective To investigate the reproductive endocrine status of women with epilepsy at childbearing age and to systematically analyze the clinical features of reproductive endocrine disorders,especially polycystic ovarian syndrome (PCOS),to facilitate early detection and timely intervention.Methods In this study,scoring of anthropometry and physical signs,menstrul assessment,examination of sex hormone and pelvic ultrasound in women with epilepsy at childbearing age were performed,and the data such as overweight,central obesity,oligo/amenorrhea,luteinizing hormone (LH)/follicule-stimulating hormone (FSH),hyperandrogenism and polycystic ovary (PCO) were collected. The characteristics of their reproductive endocrine hormone disorders were analyzed statistically. Results The age of these patients was (22. 5 ± 7.0 ) years,and women younger than 30 years old and at their peak fertility accounted for 84. 89%. The prevalence rate of PCOS in women with epilepsy at childbearing age (12. 75% ) was significantly higher than that of ordinary women at childbearing age (7.2%) in China.Highly specific indicators for PCOS were hyperandrogenism (100%),LH/FSH ＞ 2 (93%) and oligo/amenorrhea (90%),whilst the highly sensitive indicators for PCOS were PCO (92%), oligo/amenorrhea (85%) and hyperandrogenism (54%). This study revealed statistically significant difference in LH,LH/FSH and testosterone (T) between PCOS group (LH: (10.24 ± 6.92) IU/L; LH/FSH;(2.20 ± 1.16);T: ( 1.07 ± 0. 35) ng/ml) and non-PCOS group ( LH: (4. 16 ± 2.62 ) IU/L; LH/FSH:( 0. 87 ± 0. 56 );T: (0. 46 ±0. 25) ng/ml,t = -3. 899,-4. 240 and -4. 918 respectively,all P ＜0. 01 ). Conclusions Hormone indices are objective indicators for the diagnosis of PCOS. In clinical practice,attention should be paid to height,weight,abodominal circumference,menstrul history and ultrasound examination of the ovary in women with epilepsy.When reproductive endocrine hormone disorders are suspected from clinical features,the sex hormones (T,LH,and FSH ) should be checked to allow timely detection and early interventions.
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[Objective]This study was designed to identify the risk factors related with reproductive endocrinology disorder in Chinese women of child-bearing age with epilepsy.[Methods]The clinical data of 102 women with epilepsy were collected.The patient were grouped according to seven aspects(seizure onset age,seizure type,seizure frequency,duration of epilepsy,AED type,age of start AED therapy and duration of therapy)and the contribution of these factors in development of PCOS and its components were analyzed.[Results]The incidence of hyperandrogenemia in the patients with an early onset age(≤14 years old)was higher than the ones with an onset age＞14 years old.Onset age≤14 was the risk factor of hyperandrogenemia in logistic regression analysis.The incidence of a/oligomenorrhea,polycystic ovaries,hyperandrogenemia and PCOS in the valproate-treated women were 40.63%,50.00%,15.65%,and 34.38%,respectively,which were higher than the no-therapy group and nonvalproate treated group.Valproate therapy was the risk factor of PCOS and its components.[Conclusion]Valproate therapy was the risk factor of PCOS and its components in Chinese women of child-bearing age with epilepsy.Onset age≤14 was the risk factor of hyperandrogenemia.
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Objective To investigate dynamic change of anterior pituitary hormones (APHs), thyroid func-tion (TF) and genital hormones (GnHs) in patients with traumatic brain injury (TBI) and their clinical signifi-cance. Method APHs, TF and GnH were tested in 93 patients with TBI,who were admitted to Zhejiang Provin-cial People's Hopital from March 2006 to June 2007. Patients with primary injury in the hypothalamic and pituitary regions, as detected by CT and/or MR/examination, as well as those with tumors or immune diseases in the CNS,endocrine or urinogenital systems, were excluded. The clinical data were analyzed according to Glasgow coma scores (GCS), type and degree of injury, and whether there was any secondary cerebral injury. Twenty healthy people acted as controls. The data were analyzed by the Hotelling T2 test and t-tests using SAS 11.5. A P value of less than 0.05 indicated statistical significance. Results The levels of adrenocortieotropic hormone (ACTH),luteinizing hormone (LH) and prolactin (PRL) were markedly higher in all 93 TBI patients than controls, while those of thyroid-stimulating hormone (TSH), thyroid hormone T3,T4 and FT3 were significantly lower in TBI pa-tients in the early stage after injury than in those at follow-up and controls (P<0.05). The ACTH and PRL val-ues reached (33.33±6.86) and (31.74±5.51), respectively, and the LH value was (9.48±1.14) in the secondary cerebral injury group.The TSH value (1.26±0.17) in the brain injury group was significantly lower than those in controls (P<0.05). With the exception of TSH, PRL, testosterone (T) and E2, other APHs were markedly lower in TBI patients at following-up than in controls (P<0.05). The incidence of traumatic hypothala-mus-pituitary insufficiency (THPI) associated with low levels of more than three APHs was 3.2%, while 13.8% of THPI patients showed low levels of at least one APH. The ratio of sick euthyroid syndrome (SETS) was 14.0%. Conclusions A low level of a single APH is the prevalent pattern in THPI patients. Secondary cerebral injury, such as acute high intracranial pressure, brain edema and ischemia after TBI, may be the chief causes of THPI. Early hyperprolactinemia is an important indication for presaging THPI. The dynamic levels of neurcen-docrine hormones can serve as an important index for determining the suitability of TBI patients for treatment with hormone therapy.