Occult Andersson lesions in patients with ankylosing spondylitis: undetectable destructive lesions on plain radiographs / 中华医学杂志(英文版)

BACKGROUND@#Andersson lesions (ALs) are not uncommon in ankylosing spondylitis (AS). Plain radiography (PR) is widely used for the diagnosis of ALs. However, in our practice, there were some ALs in AS patients that could not be detected on plain radiographs. This study aimed to propose the concept of occult ALs and evaluate the prevalence and radiographic characteristics of the occult ALs in AS patients.@*METHODS@#A total of 496 consecutive AS patients were admitted in the Affiliated Drum Tower Hospital, Medical School of Nanjing University between April 2003 and November 2019 and they were retrospectively reviewed. The AS patients with ALs who met the following criteria were included for the investigation of occult ALs: (1) with pre-operative plain radiographs of the whole-spine and (2) availability of pre-operative computed tomography (CT) and/or magnetic resonance imaging (MRI) of the whole-spine. The occult ALs were defined as the ALs which were undetectable on plain radiographs but could be detected by CT and/or MRI. The extensive ALs involved the whole discovertebral junction or manifested as destructive lesions throughout the vertebral body. Independent-samples t test was used to compare the age between the patients with only occult ALs and those with only detectable ALs. Chi-square or Fisher exact test was applied to compare the types, distribution, and radiographic characteristics between detectable and occult ALs as appropriate.@*RESULTS@#Ninety-two AS patients with a mean age of 44.4 ± 10.1 years were included for the investigation of occult ALs. Twenty-three patients had occult ALs and the incidence was 25% (23/92). Fifteen extensive ALs were occult, and the proportion of extensive ALs was significantly higher in detectable ALs (97% vs. 44%, χ2 = 43.66, P < 0.001). As assessed by PR, the proportions of osteolytic destruction with reactive sclerosis (0 vs. 100%, χ2 = 111.00, P < 0.001), angular kyphosis of the affected discovertebral units or vertebral body (0 vs. 22%, χ2 = 8.86, P = 0.003), formation of an osseous bridge at the intervertebral space adjacent to ALs caused by the ossification of the anterior longitudinal ligament (38% vs. 86%, χ2 = 25.91, P < 0.001), and an abnormal height of the affected intervertebral space were all significantly lower in occult ALs (9% vs. 84%, χ2 = 60.41, P < 0.001).@*CONCLUSIONS@#Occult ALs presented with more subtle radiographic changes. Occult ALs should not be neglected, especially in the case of extensive occult ALs, because the stability of the spine might be severely impaired by these lesions.

Effects of drought stress on physiological and biochemical and chemical components of Cinnamomum cassia seedlings / 中国中药杂志

Six month old Cinnamomum cassia seedlings were used to simulate drought stress with polyethylene glycol(PEG 6000). The physiological indicators(osmotic substances, antioxidant enzymes, etc.) and chemical components of seedlings under different drought levels and the correlation between the two were studied. The results showed that the chlorophyll content and relative water content decreased gradually with the increase of PGE 6000(0, 5%, 10%, 15%) concentration and time(3, 5, 7 d), while the soluble protein content, soluble sugar content and catalase(CAT) activity increased, but the rising rate slowed down with the time. The activities of peroxidase(POD), superoxide dismutase(SOD), malondialdehyde(MDA) and proline content increased at first and then decreased. The content of coumarin, cinnamaldehyde, cinnamic acid and dimethoxycinnamaldehyde decreased, while the content of cinnamyl alcohol continued to increase.Under drought stress, the fluorescence signals of reactive oxygen species and no contents in roots of C. cassia seedlings were significantly stronger than those of the control.Further correlation analysis showed that coumarin content, di-methoxycinnamaldehyde content and osmoregulation substance content were significantly negatively correlated(P<0.05), cinnamic acid content was significantly negatively correlated with POD and SOD activities(P<0.01).It was found that C. cassia seedlings showed a certain degree of drought tolerance under short-term or mild drought stress, but if the drought exceeded a certain degree, the physiological metabolism of the seedlings would be unbalanced.

Electroclinical characteristics of epilepsy children with midline epileptiform discharges related epileptic negative myoclonus as the first symptom / 中华儿科杂志

Objective@#To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus (ENM) restricted to the lower limb as the first seizure type.@*Methods@#Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with "midline" . There were 302 records of 175 patients with "benign" or "functional" midline spikes. A retrospective review of each patient′s hospital record was performed. Thirteen patients had ENM restricted to the lower limb as the first seizure type. The clinical and electroencephalogram characteristics of them were analyzed.@*Results@#Thirteen patients manifested ENM restricted to the lower limb as the first seizure type, diagnosed as benign childhood focal epilepsy with vertex spikes (BEVS). Six patients had ENM as the first and only seizure type during the short-time follow-up. Among them, there were 1 male and 5 females. The age at seizure onset was (2.5±0.7) years. One of them had electrical status epilepticus during sleep (ESES) identified on electroencephalogram at theage of 4 years and 8 months. The last follow-up age was (3.8±1.5) years. The remaining 7 patients developed nocturnal focal motor seizures. Among them, there were 4 males and 3 females. The age at seizure onset was (3.5±0.7) years. Two of them were diagnosed as BEVS evolving into benign childhood epilepsy with centrotemporal spikes (BECTS) and 5 were diagnosed as BEVS concurring with BECTS. The age at focal seizures was (4.1±0.6) years. The interval ranged from 1 month to 1 years. Six of 7 patients had electrical ESES with the age of (5.2±1.0) years. All had developmental regression, further diagnosed as atypical benign partial epilepsy (ABPE). The median age at last follow-up was 5.9 years. Five of 13 patients had repeated electroencephalogram records at our apartment, showing that epileptiform discharges in midline regions were significantly reduced either in frequency or amplitude with the improvement of ENM restricted to the lower limb and that independent epileptiform discharges in Rolandic regions from midline regions were noticed with the onset of nocturnal focal seizures.@*Conclusions@#ENM restricted to the lower limb has a close association with vertex (midline) epileptiform discharges. ENM restricted to the lower limb as the first seizure type is a peculiar phenomenon of BEVS. Some patients could evolve into BECTS or overlap with BECTS, and further into ABPE. The age of seizure onset in BEVS with ENM restricted to the lower limb as the first symptom is a little earlier than in BECTS. Ignorance of the close association between midline spikes and ENM restricted to the lower limb may lead to misdiagnosis of these patients.

Comparison of sagittal plane morphology of spine and pelvis in adolescents with L₅S₁ developmental spondylolisthesis and isthmic spondylolisthesis / 中国骨伤

OBJECTIVE@#To compare the sagittal morphological features of the spine and pelvis between L₅S₁ dysplastic spondylolisthesis and isthmus spondylolisthesis in adolescent.@*METHODS@#Retrospective analysis of 24 cases of adolescent L₅S₁ spondylolisthesis with complete imaging data from May 2002 to December 2016. Those included 8 males and 16 females, aged from 10 to 18 years old with an average of (13.4±2.0) years. Among them, 9 cases were diagnosed as dysplastic spondylolisthesis (dysplasia group) and 15 cases isthmic spondylolisthesis (ischemic group). Radiographic parameters including slippage distance, slippage degree, slippage angle, sagittal vertical axis(SVA), thoracic kyphosis(TK), lumbar lordosis(LL), L₅ incidence(L₅I), pelvic incidence(PI), pelvic tilt(PT), sacral slope(SS), sagittal pelvic thickness(SPT), lumbosacral angle (LSA), sacral table angle (STA) were measured on the spinal lateral X-ray of the standing position. Independent-samples t-test was used in the comparison of each variable between two groups. 0.05).@*CONCLUSIONS@#Significant different from isthmic spondylolisthesis, adolescents with dysplastic spondylolisthesis present a different spino-pelvic sagittal alignment, characterized with trunk forward leaning and pelvic retroversion. In case of sagittal imbalance, early surgical intervention is required to restore a balanced spino-pelvic alignment.

ASAH1 gene mutation causing spinal muscular atrophy with progressive myoclonic epilepsy in a Chinese child and literature review / 中华实用儿科临床杂志

Objective To investigate the clinical and genetic features of a Chinese child with spinal muscular atrophy with progressive myoclonic epilepsy(SMA-PME)and review the related literatures.Methods The clinical and genetic data of 1 patient with SMA-PME,who had visited the Department of Pediatrics,Peking University First Hospital in August 2016,were analyzed.The clinical and genetic features of 10 reported ASAH1-related cases and this case were reviewed.Results The patient was a girl aged 4 years.At the age of 1 year and 2 months,she was able to walk independently and then started to show slowly progressive difficulty in walking.At age 3 years and 9 months,she developed frequent myoclonic jerks of trunk or even falls,and had occasional staring.The patient was revealed to have compound heterozygous mutations in ASAH1 gene,c.256_c.257insA(p.T86Nfs*14)inherited from her father and c.125C>T(p.T42M)inherited from her mother.The mutation p.T86Nfs*14 was not reported before.Since the onset of the disease,her motor skills were progressive impaired but intelligence was basically normal.A total of 10 ASAH1-related cases were reported until October 2016.By analyzing the data of the 10 foreign cases and this case,muscular weakness and seizures were presented in all cases.Onset usually with muscular weakness,other symptoms including tremor,dysphagia and recurrent pneumonia etc.The total 8 mutations were found and the most frequent mutation was c.125C>T.The mode of inheritance all conformed to autosomal recessive.In all cases,early developmental milestones were normal,and no obvious cognitive impairment were found during the course of the disease in some of them.Four ca-ses were dead at the age of 13 to 19 years in the literatures.Conclusion SMA-PME is a rare autosomal recessive disease associated with mutations of ASAH1 gene.The patient is the first Chinese case of SMA -PME confirmed by ASAH1 gene mutations that including a common mutation and a novel frame shift mutation.

Application of scalp-recorded high-frequency oscillations in epileptic encephalopathy with continuous spike-and-wave during sleep / 北京大学学报(医学版)

OBJECTIVE@#To investigate the clinical significance of high-frequency oscillations (HFOs) on scalp electroencephalography (EEG) in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS).@*METHODS@#Twenty-one CSWS patients treated for epilepsy from January 2006 to December 2016 in Pediatric Department of Peking University First Hospital were enrolled into the study. Selected clinical variables including gender, age parameters, seizure frequencies and antiepileptic drugs were compared between (a). HFO-positive group and HFO-negative group before methylprednisolone treatment and (b). excellent seizure outcome group and not-excellent seizure outcome group after methylprednisolone treatment. Interictal HFOs and spikes in pre- and post-methylprednisolone scalp EEG were measured and analyzed.@*RESULTS@#Before methylprednisolone treatment, there were 12 of 21 (57%) CSWS patients had HFOs, with a mean value 43.17 per 60 s per patient. The 12 patients with HFOs tended to have more frequent epileptic negative myoclonus/atonic/myoclonus/atypical absences than those without HFOs in a month before methylprednisolone treatment. A total of 518 HFOs and 22 592 spikes were found in the pre-methylprednisolone EEG data of 21 patients, and 441 HFOs (86%) were associated with spikes. The highest amplitudes of HFOs were significantly positively correlated with that of spikes (r=0.279, P<0.001). Rates reduced by methylprednisolone treatment were statistically significant for both HFOs (P=0.002) and spikes (P=0.006). The percentage of reduction was 91% (473/518) and 39% (8 905/22 592) for spikes and HFOs, respectively. The percentage of spike and HFOs changes was respectively 100% decrease and 47% decrease in the excellent seizure outcome group, and they were 79% decrease and 18% increase in the not-excellent seizure outcome group.@*CONCLUSION@#Prevalence of HFOs might reflect some aspect of epileptic activity. HFOs were more sensitive to methylprednisolone treatment than spikes and had a good correlation with the prognosis of seizures, and HFOs could be applied to assess epilepsy severity and antiepileptic therapy.

Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders.</p><p><b>METHODS</b>One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing. And clinical-genetic characteristics for all patients were analyzed.</p><p><b>RESULTS</b>The patients have included 9 LKS, 26 CSWS, 42 BECT variants and 45 BECT. The mean age of onset of seizure or aphasia was 5 years old (10 months to 11 years). Mutation screening has detected 4 possible pathogenic missense mutations including c.2278G>A (p.G760S), c.4153G>T (p.D1385Y), c.1364G>A (p.C455Y) and c.691T>C (p.C231R) in four unrelated probands, which comprised one case with LKS and three with BECT variants. The mutation rate was 11.1% (1/9) for LKS and 7.2% (3/42) for BECT variants. No GRIN2A mutation was found in the 26 patients with CSWS and 45 patients with BECT. Among the 122 probands, 25 (20.5%) patients without a GRIN2A mutation had a positive family history of febrile seizures or epilepsy.</p><p><b>CONCLUSION</b>GRIN2A mutation do exist in EAS patients, but with a relatively low rate. A proportion of EAS patients without a GRIN2A mutation have a positive family history, which suggested a complex mechanism for EAS.</p>

Research progress of electrical status epilepticus during sleep / 中华实用儿科临床杂志

Electrical status epilepticus in sleep (ESES) indicates a special electroencephalographic pattern showing sleep-induced continuous paroxysmal discharges of spike-wave complexes.ESES can be seen in a series of epileptic syndromes in children characterized by seizures,ESES and cognitive impairment,including epilepsy with continuous spikes and waves during slow sleep,Landau Kleffner syndrome,typical and atypical benign childhood epilepsy with centro-temporal spikes.Though the mechanism generating ESES remains elusive,great advances in several aspects,such as genetic studies (GRIN2A,copy number variations,ect.),high-frequency oscillations and brain networks have been achieved.Treatment for ESES related disorders should focus on both epileptic seizures and ESES,and the introduction of appropriate antiepileptic drugs or other strategies like hormone therapy should be considered to furthest eliminate epileptic seizures and protect cognitive function.

Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review / 中华儿科杂志

Objective@#To investigate the clinical and genetic features of a Chinese child with hyperekplexia and review the related literature.@*Method@#The clinical and genetic data of one patient with hyperekplexia, who had visited the department of Pediatrics, Peking University First Hospital in July 2012, were analyzed. "Hyperekplexia" "startle disease" "GLRB" were used as key words to search at CNKI, Wanfang and PubMed from the database from creation to August 2016.@*Result@#The one-year-old female patient showed exaggerated startle reflexes and generalized stiffness in response to external sudden, unexpected stimuli at 2 hours after birth, which existed every day. Her younger twin sister died of severe apnea due to a continuous generalized stiffness at the age of 7 months. Physical examination exhibited the positive nose-tapping reflex. There were no obvious abnormalities in laboratory tests, electroencephalogram (EEG) and neuroimaging tests. The patient was revealed to have compound heterozygous mutations in GLRB gene, c. 298-1G>A (or IVS4-1G>A) inherited from the father and c. 347T>C (p. L116P) inherited from the mother. The mutation L116P in GLRB gene was not reported before. During the follow-up until 5 years old, the girl′s symptoms of startle reflexes and generalized stiffness were controlled with clonazepam treatment. Her mental development was normal, but she walked very carefully as wide-based gait to avoid of external sudden stimuli. Literature retrieval obtained 8 reports (all in English) with 39 GLRB-related cases. Combined analysis of the data of the 39 foreign cases and our case showed that the onset age of all 40 cases was in neonatal or in utero, and all presented exaggerated startle reflexes and generalized stiffness in response to external stimuli. Other symptoms included neonatal apneas (83%, 20/24), falls (56%, 15/27) and squint (42%, 10/24) etc. EEG (13/13) and brain imaging (90%, 28/31) were normal, or unrelated/nonspecific to hyperekplexia. In the total 17 mutations of GLRB gene found in 28 cases, the most frequent mutations were GLRB gene M177R (9 cases) and IVS5+ 5G>A (5 cases). Most cases (82%, 32/39) had received the treatment of clonazepam. The symptoms of hyperekplexia all could be improved in different degree after treatment, and 84% (32/38) of the cases were completely controlled or only existed exaggerated startle reflexes. The psychomotor development could be normal (13 cases) or retarded (25 cases).@*Conclusion@#The patient presented typical clinical manifestations of hyperekplexia and had a good response to clonazepam. The patient carried GLRB gene mutations found by genetic analysis, and was finally diagnosed with hyperekplexia. The younger twin sister died due to lack of timely diagnosis and treatment, suggesting the significance of early detection and proper treatment for this disease.

Expression of DOG-1 and C-erbB-2 in papillary thyroid carcinoma and their clinical significance / 临床与实验病理学杂志

Purpose To investigate the expression and clinical significance of DOG-1 and C-erbB-2 in papillary thyroid carcinoma.Methods Immunohistochemical SP method was used to detect the expression of DOG-1 and C-erbB-2 protein in 48 cases of papillary thyroid carcinoma and 30 cases of benign thyroid lesions (15 cases of nodular goiter and 15 cases of Hashimoto's thyroiditis).Results The DOG-1 positive rate of thyroid papillary carcinoma (27.08％,13/48) was significantly higher than that of benign lesions (0,0/30),the difference was significant (P ＜ 0.05).The C-erbB-2 positive rate (39.58％,19/48) was significantly higher than that of benign lesions (3.33％,1/30),the difference was significant (P ＜ 0.05).Positive expression of DOG-1 as well as C-erbB-2 correlated with advanced TNM and presence of lymph node metastasis.The expression of DOG-1 and C-erbB-2 in patients with multifocal carcinomas combined with lymphatic metastasis showed a significant positive correlation(r =0.503,P =0.024).Conclusion The data suggest that DOG-1 and C-erbB-2 contribute to the pathogenesis and progress of thyroid papillary carcinoma.Our results introduce DOG-1 combined with C-erbB-2 as a promising biomarker for recurrence prediction and target therapy.

Expression of Lgr5 in cervical squamous cell carcinoma and its significance / 临床与实验病理学杂志

Purpose To investigate the expression of Lgr5 in cervical squamous cell carcinoma (CSCC) and its significance.Methods Lgr5 protein expression was evaluated by immunohistochemistry of EnVision two-step in 83 paraffin-embedded CSCC specimens,56 normal cervical tissues specimens and 32 cervical intraepithelial neoplasia (CIN) specimens.The expression of Lgr5 mRNA was evaluated by RT-PCR in 13 pairs of surgically removed CSCC and adjacent normal cervical tissues.The correlation between Lgr5 expression and clinicopathological features were statistically analyzed.Results The positive proportion of Lgr5 protein in CSCC tissues was significantly higher than those in adjacent normal cervix (P ＜ 0.01) and CIN (P ＜ 0.05).The expression of Lgr5 in CSCC tissues was associated with grade of tumors (P ＜ 0.01) and depth of invasion (P ＜ 0.05),but not associated with age,tumor size,clinical stage and lymph node metastasis (P ＞ 0.05).Kaplan-Meier analysis showed that the 5-year survival rate of patients with Lgr5 overexpression was significantly lower than that of patients with lower expression (P ＜ 0.01).Conclusion The expression of Lgr5 in CSCC tissues may associated with grade of tumors and depth of invasion and may be involved in initiation and development of CSCC,and it may be a new assistant marker for prognosis of CSCC.

Anatomical feature of lumbar and S₁ pedicle in patients with thoracolumbar kyphosis secondary to ankylosing spondylitis / 中国骨伤

<p><b>OBJECTIVE</b>To measure the correlative parameters of vertebral pedicles from L₁ to S₁ by CT scan in the patients with thoracolumbar kyphosis secondary to ankylosing spondylitis(AS) and disc degenerative disease(DDD), and analyze their anatomical difference in order to provide the selection and placement of pedicle screw during operation.</p><p><b>METHODS</b>The clinical data of 30 male AS patients (AS group) with the mean age of(35.7±9.5) years (ranged, 23 to 51) and 30 male DDD patients (DDD group) with the mean age of(52.4±8.9) years(ranged, 39 to 64) underwent surgery in our institution from March 2012 to November 2014 were analyzed. The CT scans of lumbar and sacrum were performed before surgery. The parameters of vertebral pedicle from L₁ to S₁ were measured and compared, including pedicle width (PW), pedicle screw path length (PL), pedicle height (PH), pedicle transverse angle (EA), and pedicle inclined angle (FA). Paired sample t-test was used to detect the divergence in the above-mentioned data between left and right sides. In addition, results between two groups were compared using independent sample t-test.</p><p><b>RESULTS</b>The study showed that a gradual increase in the average pedicle width both AS group and DDD group from L₁ to S₁. The average PW of AS group was bigger than DDD group in L₅ and S₁(<0.05), it was(16.47±2.66) mm and (21.76±2.97)mm vs. (14.51±2.11)mm and (18.87±2.14) mm respectively;the average PL of DDD group was smaller than AS group from L₁ to S₁(<0.05); the both maximum of PL were in L₃ segment; the average EA of AS group was smaller than DDD group from L₁ to S₁; the average FA of AS group was significantly smaller than DDD group from L₃ to S₁, (<0.05), was(-2.88±10.24)°, (-7.88±10.22)°, (-7.70±10.40)°, (-5.15±10.25)° vs. (4.05±2.21)°, (7.79±4.38)°, (7.07±3.21)°, (12.62±3.21)°, respectively.</p><p><b>CONCLUSIONS</b>Increasing the strength of internal fixation is feasible to insert the larger and bigger pedicle screws in low lumbar and S₁ among AS patients, while the EA should be decreased properly and the direction on the sagittal plane should be adjusted.</p>

Routine Hemostasis and Hemogram Parameters: Valuable Assessments for Coagulation Disorder and Chemotherapy in Cancer Patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The clotting system abnormalities are the common complication in cancer patients. The aim of this retrospective study was to evaluate the coagulation state, clinical features, and treatment in cancer patients by routine tests.</p><p><b>METHODS</b>A total of 2328 patients with different types of cancer were classified as the positive group (n = 1419, including 53 patients with thrombosis) and the negative group (n = 909) based on D-dimer (DD) value. Of the 2328 cases, 354 were admitted for chemotherapy. Hemostasis test and complete blood count (CBC) were performed during treatment or following-up.</p><p><b>RESULTS</b>This study showed that the hypercoagulable state was affected not only by clinical staging (P < 0.0001) but also by metastasis site (P < 0.0001 for bone vs. lung). Compared to negative DD group, the higher fibrinogen level, the extended activated partial thromboplastin time, and prothrombin time interacted markedly with disease clinical stage (P < 0.05) in the positive group. Between positive DD groups with and without thrombus, the significantly statistic difference in white blood cell (WBC) and DD (P < 0.05) rather than in red blood cell (RBC) and platelet count was observed. However, the higher DD level was not correlated with WBC, RBC, and platelet count in the positive DD group. Furthermore, the hypercoagulable plasma profile in cancer patients was moderated 2-3 weeks after chemotherapy (P < 0.05 for first six cycles).</p><p><b>CONCLUSIONS</b>The routine hemostatic parameters and CBC are valuable to assessment for thrombosis and chemotherapy even for disease prognosis.</p>

Genetic analysis of Ohtahara syndrome and atypical benign partial epilepsy coexisting in a family / 中华实用儿科临床杂志

Objective To explore the genetic etiologies in 2 siblings with different epileptic encephalopathies (EEs) diagnosed as Ohtahara syndrome(OS) and atypical benign partial epilepsy(ABPE) from one family.Methods The 2 brothers were diagnosed at the Pediatric Neurological Clinic of Peking University First Hospital in September 2013,whose clinical data were collected.The coding region of the syntaxin-binding protein 1 gene (STXBP1) and glutamate receptor subunit gene (GRIN2A) were detected by using Sanger sequencing in the 2 siblings.For the elder brother,targeted next-generation sequencing was further performed to detect the genes associated with epilepsy.Results The younger brother manifested focal motor seizures and tonic spasms in cluster at the age of 1 month.Interictal electroencephalogram (EEG) showed suppression-burst pattern.He was diagnosed as OS.The elder brother had seizure onset at age of 6 years old.Focal motor seizure during sleep was his seizure type.His EEG showed interictal discharges in Rolandic area primarily.Electrical status epilepticus during sleep,epileptic negative myoclonus and intellectual disabilities occurred during the course.He was diagnosed as ABPE.Brain magnetic resonance imagines for both of them were normal.Screening of STXBP1 mutations for the younger brother found a de novo heterozygous mutation:c.1672C ＞ T (p.Q558X).Gene detection for the elder brother and the parents showed negative results.Conclusions Coexistence of distinct EEs was reported in 2 brother siblings:the younger brother had OS associated with a novel nonsense mutation in STXBP1,and the elder brother had ABPE without genetic evidence.This study indicated that different pathological mechanisms might exist underlying the two different EEs in a family.

Reproductive toxicity of triptolide and its mechanism in male rats / 中国中药杂志

The arrenotokous toxicity of triptolide was evaluated, and the rate of sperm abnormality, the changes of the lipid peroxide, the enzyme activity and the hormone in male rats were observed. With the negative and positive control group, the healthy rats were respectively given by gavage triptolide suspension at the dose of 0.025, 0.05, 0.1 mg x kg(-1) for 30 days. Then the rats were killed for the measurement of the indicators in testis and serum, as well as the study on the sperm abnormality. The results showed that the positive control group had significant difference, compared with the negative control group. The content of SOD, LDH, G-6-PD, Na+ -K+ -ATPase, Ca+ -Mg+ -ATPase decreased significantly in 0.05 mg x kg(-1) group, and reduced more obviously with exposure to the dose of 0.1 mg x kg(-1). The levels of GSH-Px and beta-G showed a significant decrease in the testis of rats only at the dose of 0.1 mg x kg(-1). Nevertheless, the MDA levels, the FSH levels and the LH levels showed no significant difference. The deformity rate of sperm increased significantly in 0.05 mg x kg(-1) group and 0.1 mg x kg(-1) group. The results indicated the triptolide had the effect of the lipid peroxidation to damage Spermatogenic cells, Sertolis cells and Leydig cells. At the same time, the triptolide interfered not only with the energy supply process of aerobic and anaerobic glycolysis,but also with the energy utilization in testis by affecting the activities of testis marker enzymes, and produced a damage chain of the male reproductive system

Penile frenulum lengthening for premature ejaculation / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate the effect of penile frenulum lengthening in the treatment of premature ejaculation (PE).</p><p><b>METHODS</b>Thirty-four males with PE were enrolled in this study, of whom 8 had received circumcision six months before and 4 had redundant prepuce, all with short frenulum. Those with a history of circumcision underwent reconstruction and lengthening of the frenulum, and those without received frenulum lengthening only.</p><p><b>RESULTS</b>Compared with the baseline, the intravaginal ejaculation latency time (IELT) was significantly increased at 1 month after operation ([1.35 ± 0.49] vs [5.71 ± 2.69] min, t = -9.42, P <0.01), (1.42 ± 0.5) vs (5.31 ± 2.74) min in the patients without circumcision (t = -7.41, P <0.01), (1.12 ± 0.35) vs (7.00 ± 2.20) min in those with circumcision (t = -7.24, P <0.01), and (1.50 ± 0.58) vs (4.75 ± 1.71) min in those with redundant prepuce (t = -3.81, P <0.05). Totally, 94% of the patients were satisfied with their sexual intercourse postoperatively.</p><p><b>CONCLUSION</b>Penile frenulum plays an important role in penile erection. Reconstruction and/or lengthening of the frenulum can prolong penile erection and IELT in PE patients.</p>

A new sesquiterpenoid from fungus Colletotrichum sp. and its cytotoxicity / 药学学报

A novel sesquiterpenoid (1) and three known compounds identified as isoaltenuene (2), altenuene (3), and alternariol 4, 10-O-dimethyl ether (4), were isolated in our investigation of the cytotoxic constituents from solid cultures of the endophytic fungus Colletotrichum sp. The structures of these compounds were elucidated through spectroscopic data analysis. All compounds exhibited cytotoxic activity against lung cancer cell line A549, breast cancer cell line MDA-MB-231 and pancreatic cancer cell line PANC-1. Compound 4 could induce the PANC-1 cells inflation or death, but couldn't induce apoptosis at the IC50 of 60.2 microg x mL(-1).

The correlation between T1 tilt and cosmetic shoulder balance in Lenke type 2 adolescent idiopathic scoliosis patients / 中华外科杂志

<p><b>OBJECTIVE</b>To study the relationship between T1 tilt and cosmetic shoulder balance in adolescent idiopathic scoliosis (AIS) patients.</p><p><b>METHODS</b>Seventy-one Lenke type 2 AIS patients were recruited into the present study from January 2010 to December 2011. There were 61 female and 10 male patients, the average age was (15.1 ± 2.9) years (range 10-18 years); the average Risser sign was 2.8 (range 1-5). The patients were photographed from the back in neutral standing position on level ground wearing underpants. Also, all the patients had a standing posterior-anterior radiograph in a relaxed standing position. The cosmetic shoulder height (CSH), which included cosmetic inner shoulder height (CSHi) and cosmetic outer shoulder height (CSHo), were measured in the photographs. Positive value was defined as left shoulder was higher than the right shoulder, and negative value was defined as right shoulder was higher than the left shoulder. CSH > 5 mm was defined as positive CSH, CSH < -5 mm was defined as negative CSH, -5 mm ≤ CSH ≤ 5 mm was defined as leveled CSH. T1 tilts were measured in the posterior-anterior radiographs. Positive value was defined as the left proximal vertebral body up and right lower vertebral body down, and negative value was defined as the right proximal vertebral body up and left lower vertebral body down. T1 tilt > 5° was defined as positive T1 tilt, T1 tilt < -5° was defined as negative T1 tilt, -5° ≤ T1 tilt ≤ 5° was defined as leveled T1 tilt.</p><p><b>RESULTS</b>T1 tilt was found to be significantly correlated with CSHi and CSHo (r = 0.25 and 0.28, P < 0.05).For positive T1 tilt patients, there were 59.0% (36/61) patients with positive CSHo, 37.7% (23/61)with leveled CSHo, and 3.3% (2/61)with negative CSHo.For the patients with leveled T1 tilt, it was 3/10, 5/10 and 2/10.For positive T1 tilt patients, there were 83.6% (51/61) patients with positive CSHi, 11.5% (7/61) with leveled CSHi, and 4.9% (3/61) with negative CSHi; For the patients with leveled T1 tilt, it was 6/10, 2/10 and 2/10.</p><p><b>CONCLUSIONS</b>Although positive correlation is found between T1 tilt and cosmetic shoulder balance, positive T1 tilt is not an indicator of higher left shoulder.Elevated left shoulder, leveled shoulders and elevated right shoulder are all found in positive T1 tilt patients.</p>

Correlation between the shifting of medulla oblongata and cerebellum and syrinx resolution after posterior fossa decompression in Chiari malformation / 中华外科杂志

<p><b>OBJECTIVES</b>To evaluate the changes of the position of medulla oblongata and cerebellum following posterior fossa decompression (PFD), and to investigate their influences on the prognosis of the syringomyelia in adolescents with Chiari malformation (CM).</p><p><b>METHODS</b>A retrospective review was performed on all CM patients between September 2006 and September 2011. A subset of 46 patients, including 25 male and 21 female patients, was finally enrolled according to the inclusion criteria. The initial age and duration of follow-up averaged 13.9 years (range, 10-17 years) and 13 months (range, 6-52 months), respectively. On mid-sagittal MRI, the following parameters were evaluated pre- and postoperatively (follow-up ≥ 6 months): the longitudinal and transverse position of bulbopontine sulcus, the fourth ventricle vertex, the lower extreme of cerebella tonsil, the cervico-medullary angle, the maximal syrinx/cord(S/C) ratio and the syrinx length. Changes in these parameters were analysed using the paired samples t test, and for these reaching statistical significances, an additional bivariate correlation analysis was performed to investigate their relation with syrinx resolution.</p><p><b>RESULTS</b>At the latest follow-up, upward shifting of the bulbopontine sulcus was observed in 31 patients(67.4%), with upward shifting of the lower extreme of cerebella tonsil presenting in 35 patients(76.0%). The maximal S/C ratio and the syrinx length were significantly improved postoperatively (t = 7.114 and 7.816, P = 0.000).Significant resolution of the syrinx was demonstrated in 40 patients(86.9%), and more specifically, the average improvement rates of the maximal S/C ratio and the syrinx length were 32% ± 30%and 43% ± 33%, respectively. In addition, the bivariate correlation analysis revealed that syrinx resolution was significantly correlated with the upward shifting of the bulbopontine sulcus (r = 0.332, P = 0.027) and lower extreme of cerebella (r = 0.298, P = 0.044) .</p><p><b>CONCLUSION</b>The upward shifting of the bulbopontine sulcus and the lower extreme of cerebella tonsil might be implicated in the mechanisms of postoperative syrinx resolution.</p>

The effect of sympathectomy on the development and progression of scoliosis in bipedal mice model / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the effect of sympathectomy on the development and progression of scoliosis in bipedal C57BL/6J mice model.</p><p><b>METHODS</b>Sixty female 3-week-old C57BL/6J mice were selected to establish bipedal scoliotic mice model after amputations of forelimbs and tails. All mice were randomly divided into three groups, 20 mice for each group. Group 1 received daily intraperitoneal injection of 0.9% saline (5 mg/kg); while Group 2 and 3 received sympathectomy by daily intraperitoneal injection of propranolol (20 mg/kg) and guanethidine sulfate (40 mg/kg), respectively. Posteroanterior X-rays were obtained at 20th week. Curves were measured using Cobb method and scoliosis was defined as a Cobb angle of > 10°. Incidence of scoliosis and severity of curves were compared among groups using Chi-square test and One-way analysis of variance, respectively.</p><p><b>RESULTS</b>There were 17 (85.0%) mice presented scoliosis in Group 1; whereas 11 (55.0%) and 10 (50.0%) mice presented scoliosis in Group 2 and 3, respectively. The incidence of scoliosis was found to be higher in Group 1, and the difference was statistically significant (χ(2) = 6.172, P = 0.046). As for curve magnitudes, the mean Cobb angle was 20° ± 9° in Group 1, 10° ± 7° in Group 2, and 12° ± 8° in Group 3. The mean Cobb angle of Group 1 was significantly greater than those of Group 2 and 3 (F = 9.545, P < 0.001), but there was no significant difference in mean Cobb angle between Group 2 and 3.</p><p><b>CONCLUSIONS</b>Sympathetic nervous system may be involved in the development and progression of scoliosis in bipedal C57BL/6J mice model. Sympathectomy do not seem to dramatically decrease the incidence of scoliosis, probably due to that bipedalism itself may also be a cause of scoliosis in this animal model.</p>