ObjectiveTo reveal impairments in the perceptual networks in tuberous sclerosis complex (TSC) with epilepsy by functional connectivity MRI (fcMRI). MethodsThe fcMRI-based independent component analysis (ICA) was used to measure the resting state functional connectivity in nine TSC patients with epilepsy recruited from June 2010 to June 2012 and perceptual networks including the sensorimotor network (SMN), visual network (VN), and auditory network (AN) were investigated. The correlation between Z values in regions of interest (ROIs) and age of seizure onset or duration of epilepsy were analyzed. ResultsCompared with the controls, the TSC patients with epilepsy presented decreased functional connectivity in primary visual cortex within the VN networks and there were no increased connectivity. Increased connectivity in left middle temporal gyrus and inferior temporal gyrus was found and decreased connectivity was detected in right inferior frontal gyrus within AN networks. Decreased connectivity was detected at the right inferior frontal gyrus and the increase in connectivity was found in right thalamus within SMN netwoks. No significant correlations were found between Z values in ROIs including the primary visual cortex within the VN, right thalamus and inferior frontal gyrus within SMN, left temporal lobe and right inferior frontal gyrus within AN and the duration of the disease or the age of onset. ConclusionFhere is altered (both increased and decreased) functional connectivity in the perceptual networks of TSC patients with epilepsy. The decreased functional connectivity may reflect the dysfunction of correlative perceptual networks in TSC patients, and the increased functional connectivity may indicate the compensatory mechanism or reorganization of cortical networks. Our fcMRI study may contribute to the understanding of neuropathophysiological mechanisms underlying perceptual impairments in TSC patients with epilepsy.
Objective To explore the efficiency of Vigabatrin for epilepsy in children with Tuberous Sclerosis Complex, and to further research the risk factors related to the outcome after adjunctive use of Vigabatrin. Methods 25 children with TSC and epilepsy treated with Vigabatrin at Children′s Hospital of Fudan University between 2013 and 2015 were included. Clinical characteristics and the effectiveness of other antiepileptic drugs were extracted from the follow-up data. The prevalence of visual field defect was analyzed among the cases. And correlations were made between the responses to Vigabatrin in groups. Results 25 cases, 15 male (60%). 18 cases had response to VGB-adjuvant therapy. Children with epilepsy onset at greater than six months of age were most likely to demonstrateagood response to VGB treatment. And the poorly response of cases showed that 4 had TSC1 mutation. And among the 25 cases, one child had the visual filed defect. Conclusions Vigabatrin as adjunctive therapy showed certain effect in controlling epilepsy in TSC cases, especially infantile spasms and some partial epilepsy. But the side effect of visual filed defect should be cautious. Age-appropriate visual field testing is recommended at baseline and then repeated at intervals in patients exposed to long term Vigabatrin therapy.
Objective To summarize manifestation, imaging characteristics, and treatment of hepatic focal nodular hyperplasia (FNH). Methods From January 2007 to December 2016, the patients pathologically confirmed hepatic FNH were included in this study. The clinical features and imaging characteristics were analyzed retrospectively. Results Twenty-two cases were pathologically diagnosed as hepatic FNH with an age of (36.8±11.2) years (range from 20 to 61 years). Ten were males and 12 were females. Three patients had abdominal pain and 19 patients had no symptoms. The diameter of the lesions was (4.16±1.92) cm (range from 1.0 to 7.8 cm) and approximately 9 (40.9%) lesions were more than 5.0 cm. The diagnosis rates of CT and MRI were 64.70% (11/17) and 84.21% (16/19), respectively. All the patients underwent hepatectomy successfully and recovered without severe complications. No recurrence and metastasis happened during following-up of 1–103 months. Conclusions Hepatic FNH is more common in young patients and has no typical symptoms. MRI is useful in diagnosis of hepatic FNH.
Objective To explore the effectivness of arthroscopic synovectomy in the treatment of pigmented villonodular synovitis (PVNS) of the knee. Methods A retrospective analysis was conducted on 13 patients with PVNS of the knee treated with arthroscopic synovectomy between June 2008 and December 2011, including 8 left knees and 5 right knees. There were 9 males and 4 females, aged 25-45 years (mean, 33 years). Of 13 patients, 5 had a history of trauma, and 8 had no history of trauma. The disease duration ranged from 4 months to 80 months (mean, 44 months). The preoperative Lysholm score was 45.3 ± 4.2, and International Knee Documentation Committee (IKDC) 2000 score was 46.8 ± 4.9. All patients underwent arthroscopic synovectomy and postoperative radiotherapy. Results The pathological examination proved PVNS in all cases. All incisions obtained healing by first intention after operation. There was no neurovascular injury or knee infection. The average follow-up period was 21.8 months (range, 12-30 months). The Lysholm score was 90.2 ± 7.4, and IKDC2000 score was 87.8 ± 3.8 at last follow-up, showing significant differences when compared with preoperative scores (t=22.64, P=0.00; t=24.32, P=0.00). No recurrence was observed during follow-up. Conclusion Arthroscopic synovectomy can be effective in the treatment of PVNS of the knee, and it has the merits of minimal invasion, rapid function recovery of the knee joint, and satisfactory results. So it is a safe, promising, and minimal invasive procedure in treatment of PVNS.
ObjectiveTo compare the clinical efficacy of endoscopic thyroidectomy via breast approach and open thyroidectomy for multiple nodular goiter. MethodsBetween September 2010 and March 2013, a total of 138 patients with multiple nodular goiter were divided into two groups based on even or odd number. Patients in the endoscopy group (n=69) had a mean age of 38.3 years and they underwent endoscopic thyroidectomy via breast approach, while patients in the open group (n=69) had a mean age of 36.8 years and underwent open thyroidectomy. Surgery time, blood loss, pain and drainage, as well as postoperative complications were compared between these two groups. ResultsSurgery time in the endoscopy group was significantly longer than that in the open group (P<0.05). Blood loss in the endoscopy group was significantly less than that in the open group (P<0.05). Scores of pain at different times in the endoscopy group were significantly lower than those in the open group (P<0.05). There was no significant difference in drainage and duration of drainage between the two groups (P>0.05). There were no significant differences in incidence of transient hypocalcemia, hypoparathyroidism and recurrent laryngeal nerve injury between the two groups (P>0.05). ConclusionEndoscopic thyroidectomy via breast approach and open thyroidectomy are both effective and safe procedures for multiple nodular goiter. However, endoscopic thyroidectomy via breast approach is superior to open thyroidectomy in reducing blood loss, relieving pain with excellent cosmetic results.
ObjectiveTo analyze and summarize the clinical and video EEG (VEEG) characteristics of tuberous sclerosis (TSC) with epilepsy.MethodsClinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan. 2016 to May 2019 in Zhengzhou Children’s Hospital were collected, including 29 children with epileptic seizures. The characteristics of skin lesions, imaging, seizures and long-term VEEG were analyzed retrospectively.ResultsThe mean age was (2.88 ± 2.64), 12 males and 18 females, 1 case of lumbar acid as the first symptom, 29 cases with epilepsy as the first symptom, the incidence of epilepsy is high, and the onset age is less than 1 year old; TSC can cause different degrees of cognitive impact; depigmentation or milk coffee spots are the most common skin changes in young children; TSC with infantile spasm has a high incidence; children younger than 10 years old may have lesions of other organs except nervous system lesions. However, the incidence of other organ lesions was relatively low. Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.ConclusionThe clinical characteristics of TSC with epileptic seizures are various, and early diagnosis is of great significance.
ObjectiveTo investigate the succession model for hyperthyroidism and thyroid carcinoma secondary to nodular goiter in iodine deficiency area. MethodsA total of 216 specimens of goiter patients from iodine deficiency area were collected in the former 3rd hospital of Norman Bethune Medical College from January 1980 to December 1994. Twentyfour heteroploid samples were selected by the method of Hedley with Flow cytometry (FCM) analysis. Paraffin-embedded tissues from the same position were used to perform immunohistochemical staining for proliferating cell nuclear antigen (PCNA), laminin (LN), factor Ⅷ related antigen (FⅧ-RAg), and p53. The proliferative activity, stroma change, and angiogenesis were observed. ResultsPCNA label index (PCNA-LI) and proliferation index (PI) consistent in 24 heteroploid samples with PCNA staining were significantly higher value. PCNA positive cells were mainly distributed over nonfollicular parenchymatous structures, small follicles, and multilayered structures with large bubbly follicles. Destroyed basement membrane and necrosis were found by LN staining in PCNA positive position with vigorous reproductive capacity. Combining FⅧ-RAg staining with LN staining, interstitial proliferation and angiogenesis were obvious in follicular epithelial cells with vigorous reproductive capacity, providing nutrition and superior environment for them. ConclusionsThe reproduction of thyroid follicular epithelial cells, interstitial proliferation, and angiogenesis are all involved in tuberosis and hyperthyroidism, forming precancerous lesion, which suggest the succession model of goiter in iodine deficiency area.
摘要:目的:探讨关节镜微创手术对膝关节色素沉着绒毛结节性滑膜炎的诊断和治疗价值。方法:本组12例,男7例,女5例,年龄18～46岁,平均33岁;病史2～60个月,平均16个月;其中左膝8例,右膝4例;初次就诊11例,外院开放手术后复发1例。所有病例术前均行MRI检查,并行关节镜检,滑膜切除,记录该病在关节镜下的表现形式(局灶型或弥漫型),样本全部送病理检查。术后加压包扎、局部冰敷并按计划功能锻炼,术后3～4周行患膝放射治疗。结果:本组12例,其中局灶性病例8例,弥漫性4例,术后病理检查确诊;所有病例获得了3~21个月,平均13个月随访,未见复发;术前Lysholm评分(62.3±2.4)分;国际膝关节评分委员会(IKDC)膝关节功能主观评分(56.4±31)分;术后3月复查Lysholm评分(82.5±3.2)分;IKDC主观评分(85.3±2.5)分。除1例开放手术后复发病例术后3月膝关节屈曲受限(80°)外,其余患者功能良好。结论:关节镜手术创伤小,显露充分,病灶切除彻底,术后功能恢复理想,辅以放射治疗可有效降低复发率,对膝关节色素沉着绒毛结节性滑膜炎具有较高的诊治价值。Abstract: Objective: To evaluate the role of arthroscopy in the diagnosis and treatment in knee joint pigmented villonodular synovitis. Methods: 12 cases of knee joint pigmented villonodular synovitis with the age of 18 to 46 years old were treated with arthroscopical synovectomy with a combined application of postoperative exercise and radiotherapy. The history of disease was 2 to 60 months, with the mean of 16 months. The clinical data were reviewed when followedup and evaluated by Lysholm score and and IKDC score. Results: 12 patients diagnosed by pathologic examination,including 8 localized and 4 diffused, were followed up for 3 to 21 months(13 months on average)with no relapses at the time of followup. Lysholm score was (62.3±2.4)points preoperatively, but (82.5±3.2) points 3 months later.The International Knee Documentation Committee (IKDC) score was (56.4±3.1) and (85.3±2.5) respectively before surgery and 3 months later. All patient remained good functions of knee joints except one who relapsed after open operation. Conclusion:In case of pigmented villonodular synovitis of the knee joint, arthroscopical synovectomy combined with postoperative radiotherapy and physical exercise is an effective treatment with less invasion and better function than open operation.
Objective To summarize clinical features, imaging findings, diagnosis, treatment, and prognosis of patients with hepatic focal nodular hyperplasia. Method The clinical data of patients with hepatic focal nodular hyperplasia who underwent hepatectomy from July 2014 to July 2016 in the Xiangya Hospital of Central South University were analyzed retrospectively. Results There were 12 males and 19 females in the 31 patients with hepatic focal nodular hyperplasia, the male-to-female ratio was 1∶1.58. The age was from 15 to 67 years old with (39.7±11.5) years old. Physical examination found 21 cases, there were symptoms in 10 cases. Laboratory examination: only 2 patients with long-term drinking history had mild AST abnormality, HBsAgs of 6 cases were positive, CA19-9 level of one patient was slightly increased (40.54 kU/L). Thirteen patients with hepatic focal nodular hyperplasia were diagnosed by imaging examination, the diagnostic rate of MRI was significantly higher than that of color Doppler ultrasound (P<0.05) or CT (P<0.05). The diameter of the lesions ranged from 2 cm to 11 cm with (4.6±2.1) cm. All lesions were resected, including 13 cases by laparoscopic hepatectomy, and 18 cases by laparotomy. Compared with by the laparotomy, the intraoperative blood loss was less (P<0.05), the hospital stay and intestinal exhaust time were shorter (P<0.05) by the laparoscopic hepatectomy. Twenty-nine patients were followed up from 3 to 24 months, no patient died, the quality of life was better, no recurrence and metastasis happened. Conclusions Hepatic focal nodular hyperplasia is benign lesion, it has a good prognosis, generally without clinical symptoms, its laboratory feature has no abnormality. The combination of multiple imagings and pathological diagnosis could improve diagnosis rate. Surgical resection should be performed for suspected malignant tumor or other hepatic occupying lesions. Laparoscopic surgery has some advantages of quick recovery and less bleeding for it.
ObjectiveAnalyze the clinical features of epilepsy induced by tuberous sclerosis complex (TSC) to improve diagnosis and treatment level of this disease, and improve the prognosis. MethodsThe clinical data of 54 patients with epilepsy induced by TSC from May, 2012 to May, 2015 were analyzed together with the physical data, clinical presentations, EEG, imaging findings, treatment, prognosis and follow-up. Summarizing the clinical features of epilepsy induced by TSC. ResultsPatients with different epilepsy onset age, whether or not combined spasm, differences in intelligence status were statistically significant (P < 0.05); Patients with different gender, skin lesions, types of seizures, differences in intelligence status were no statistical significance (P > 0.05); Patients with different gender, epilepsy onset age, differences in patients with spasm were statistically significant (P < 0.05); Patients with different family history, skin lesions, types of seizures, differences in patients with spasm were not statistically significant (P > 0.05). Patients with different intelligence status, difference of medication quantity was statistically significant (P < 0.05); Patients with different gender, onset age, family history, skin lesions, whether or not combined spasm, types of seizures, difference of medication quantity was not statistically significant (P > 0.05). ConclusionsEpilepsy is the most common neurological manifestations in TSC, mostly onset in early childhood. Seizure types are different from one to another. Patients can be combined with skin damage and mental retardation. Positive rate of EEG and head imaging examination are high, seizure control rate is low. Patients need long-term follow-up and timely adjustment of treatment. Intelligence status is related to epilepsy onset age, spasm. Patients with spasm are related to different gender, epilepsy onset age. Medication quantity is related to intelligence status.