Traditional Chinese medicine thinking is the core method of diagnosis and treatment of traditional Chinese medicine. Thus, cultivating the clinical thinking of traditional Chinese medicine in the orthopeadics department has become the importance. TCM tendon and muscle injuries were well characterised by the TCM, becoming an important part of TCM orthopedics., The tendon and muscle injuries were used to explore the application and cultivation of traditional Chinese medicine thinking. This will help to improve the clinical curative effect, complement the modern Chinese medicine.

Objective To investigate the effect of ventricle-peritoneal (V-P) shunt in treatment of patients who developed post-traumatic hydrocephalus (PTH) with no symptoms or with atypical symptoms due to an excessively severe traumatic brain injury (TBI).Methods A retrospective study was performed in patients who developed PTH with atypical symptoms undergone V-P shunt from January 2004 to June 2007.Patients' general information,TBI data,PTH severity and postoperative follow-up data were collected and applied to assay the improvement rate in prognosis and its associated factors.Results Thirty-one patients were involved in this study.After 12 months of follow-up,20 (65％) patients revealed significant improvements in clinical symptoms.Among 10 patients who developed PTH after decompressive craniectomy,cranioplasty was performed following V-P shunt and significant improvements were observed in nine patients.Patients' age and severity of PTH based on CT evaluation before shunt placement were strongly correlated with the surgical outcome.Conclusions Most PTH patients with atypical symptoms can benefit from V-P shunt.Additionally,younger patients and those with less severe PTH before V-P shunt are expected a better outcome.

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.

Objective:To analyze the clinical phenotype and genotype characteristics of infantile spasm (IS) associated with UBA5 gene mutation. Methods:Four cases of IS caused by UBA5 gene variation diagnosed at the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were retrospectively analyzed.The clinical manifestations, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), treatment, and follow-up results were summarized. Results:In this study, 4 cases (3 males and 1 female) were clinically diagnosed with IS and carried complex heterozygous variation of UBA5 gene.Genetic analysis confirmed that a total of 6 different mutation sites were found, five of which were unreported.All the 4 cases presented with epileptic spasms at the age of 1 d to 8 months after birth, and 2 cases had focal seizures during the course of disease.The EEG of 4 cases showed hypsarrhythmia and cluster or isolated epileptic spasms were detected.Of the 3 patients who had brain MRI results, 2 cases showed nonspecific abnormalities and 1 case was normal.All the 4 patients had developmental delayed before seizure onset, and regressed to varying degrees and made slow progress after onset.One case had microcephaly, and 3 cases had hypertonia.At the last follow-up, the age of the 4 patients ranged from 7 months to 6 years and 4 months.All 4 patients were treated with multiple antiepileptic drugs, but none of them were under control. Conclusions:Children with IS associated with UBA5 gene variation have an early onset age, often accompanied by developmental delayed, microcephaly, dystonia, and refractory seizures.

Objective To explore the therapeutic effects and adverse reaction of high-dose Diazepam (DZP) in patients with electrical status epilepticus during sleep (ESES).Methods Nine patients in the Outpatient of the Department of Pediatrics,Peking University First Hospital from October 2016 to May 2017 with ESES were treated with high-dose DZP.Oral DZP was administered in a dose of 0.75-1.00 mg/kg(maximum:40 mg) during the first night followed by 0.5 mg/(kg · d) (maximum:20 mg) from the second night for 1-3 months and tapered over next 1-3 months.The seizures,electroencephalogram (EEG) changes and adverse reactions were observed before and after DZP treatment.Results Six of 9 patients were male and 3 were female.The age of onset was ranged from 1 year and 6 months to 10 years.Benign childhood epilepsy with central temporal spike was diagnosed in 5 cases,epileptic encephalopathy with continuous spike-and-wave during sleep in 1 case,and ESES related epilepsy in 3 cases.Age of onset DZP treatment ranged from 4 years and 4 months to 12 years,and the duration of DZP treatment was ranged from 1 to 5 months (1 case only for the first night).The follow-up interval was 6-12 months.The efficiency of DZP on seizures:intent effective in 5 patients,effective in 2 patients and ineffective in 2 patients,and the effective rate was 78％ (7/9 cases).The efficiency of DZP on EEG (1 month after DZP treatment):intent effective in 2 patients (EEG normalized),effect in 3 patients and no effect in 2 patients,and the effective rate was 71％ (5/7 cases),while 2 patients did not receive EEG examination.Four of 7 patients (57％) with intent effect and effective of DZP on seizures had seizures relapse during drug reduction and after drug withdrawal,and the EEG deteriorated simultaneously.Adverse reactions of DZP included 3 patients (33％) with adverse reactions,bed-wetting in 2 patients and snoring on the first night in 1 patient who withdrew DZP later.Conclusions The high-dose of DZP has a certain effect on seizures control and ESES suppression in patients with ESES,but also has a certain recurrence rate.The adverse reactions are mild and self-limiting.High-dose DZP treatment could be a choice for refractory patients with ESES to alleviate disease.

Objective:To analyze the clinical phenotype and genetic characteristics of children with germline PIGA gene mutations. Methods:The clinical presentations, blood biochemistry, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and genetic test results of 10 children diagnosed at the Department of Pediatrics of Peking University First Hospital between January 2014 and June 2020 were analyzed.Results:All these 10 children were male, with seizures and severe developmental delay.Five out of eight cases showed hypotonia.Four out of nine cases had facial deformity or multiple organ abnormalities.The onset age of seizures ranged from one month and 28 days to 10 months, with an average age of 4.8 months.There were various types of seizures, and all patients showed focal seizures.The seizures of 6 patients in these 10 cases could be induced by fever disease.Diffuse slow waves mixed focal or multifocal discharges of interictal EEG in 9 cases with PIGA-deficient.Brain MRI showed enlarged subarachnoid space in 44.4% (4/9 cases) of patients.Slight elevated serum alkaline phosphatase could be seen in 2 cases.Genetic analysis confirmed that a total of 8 different mutation sites were found, 7 of which were unreported.In this group, 4 cases were diagnosed with multiple congenital anomalies -hypotonia -seizures syndrome 2 (MCAHS2), 5 cases were diagnosed with developmental delay and epilepsy without deformity, and one case was not classified, respectively. Conclusions:Focal seizure was common in these patients with PIGA mutations, and often induced by fever disease.Interictal EEG was characterized by diffuse slow waves mixed focal or multifocal discharges.Enlarged subarachnoid space was the most common brain MRI abnormality in these patients.The phenotype of patients only partially conformed to typical MCAHS2 manifestations, and most of them had no deformity.

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.

Objective:To investigate the clinical and electroencephalographic characteristics of photosensitive occipital lobe epilepsy (POLE) in children.Methods:The clinical data, electroencephalogram (EEG), treatment and prognosis of 22 children with POLE in the Department of Pediatrics, Peking University First Hospital from January 2006 to December 2019 were retrospectively analyzed.Results:Among the 22 patients, 12 cases were female and 10 cases were male.There were 3 cases combined with mild mental retardation.Classified by seizure symptoms, only 3 patients complained of subjective symptoms of visual aura, and the common symptoms were eye movement in 11 patients, headache in 3 patients, vomiting in 6 patients and dizziness in 3 patients.All patients had focal seizures during the course of disease.Twenty patients had secondary bilateral tonic-clonic seizures, and 5 patients also had generalized myoclonic seizures.Interictal epileptiform discharges were monitored in EEG of all children, including pure focal discharges in 6 patients, pure generalized discharges in 10 patients, and coexistence of generalized and focal discharges in 6 patients.Photoparoxysmal responses were induced in 19 patients, including pure focal discharges in 4 patients, pure generalized discharges in 6 patients, and coexisting focal and generalized discharges in 9 patients.Photoconvulsive responses were induced in 16 patients, including focal seizures with occipital lobe onset or focal secondary to bilateral tonic-clonic seizures in 15 patients, and myoclonic seizures in 1 patient.Eighteen patients were treated with anti-seizure medications (ASMs) and followed up.The top 3 commonly used drugs were Valproic acid (12 patients), Levetiracetam (8 patients), and Lamotrigine (4 patients), and 13 cases had controlled seizures.Conclusions:The visual aura of POLE is not obvious, and the relationship between epilepticseizures and light stimuli in daily life should be actively inquired to avoid misdiagnosis or underdiagnosis of the syndrome.The EEG of POLE often visualizes the coexistence of focal and generalized discharges, which may be accompanied by generalized seizures.The coexistence phenomenon should be considered when ASMs are medicated during treatment, and odium channel blockers should be selected carefully.

Objective:To explore the clinical application of robot-assisted laparoscopic single-position nephroureterectomy and bladder sleeve resection for upper urinary tract urothelial carcinoma (UTUC).Methods:The clinicopathological data of 15 UTUC patients admitted to Union Hospital of Tongji Medical College of Huazhong University of Science and Technology from October 2018 to May 2020 were retrospectively analyzed. There were 8 males and 7 females, with a median age of 58.6 (ranging 52.6-69.6) years, including 8 cases of renal pelvic cancer, 2 cases of upper ureteral cancer, 5 cases of middle and lower ureteral cancer.The tumor located on the left side in 5 cases and right side in 10 cases. All 15 patients underwent robot-assisted one-step transperitoneal nephroureterectomy and bladder sleeve resection by the same surgeon. The patients were placed in a 70° healthy side lying position with a 10° head lower and foot high position. After routinely dissecting the kidneys and controlling the renal hilum, we continued to dissect the ureter down to the orifice of the bladder. The lymph node dissection was performed when dissecting the kidney and ureter. Then the ureter was resected like a sleeve and the bladder was sutured. Observation indicators, such as operation time, blood loss, postoperative drainage tube and urinary catheter placement days, were recorded.Results:All 15 patients were successfully completed the operation in the same position and the same robot berth without conversion. The median operation time was 103 (ranging 82-185) min, and the intraoperative median blood loss was 60 (ranging 30-120) ml. The postoperative median drainage catheter placement time was 3 (ranging 2-5) d, the postoperative median hospital stay was 5 (ranging 4-7) d, and the postoperative urinary catheters were placed for 14 days. Postoperative pathological examinations of 15 patients showed UTUC without positive margins. The median follow-up time was 15 (ranging 10-30) months. All 15 patients survived. One patient was found a recurrence in the bladder after cystoscopy. There was no tumor progression after bladder tumor resection and bladder perfusion chemotherapy, and no tumor recurrence or metastasis was seen in the remaining 14 cases.Conclusions:Robot-assisted single-position transperitoneal nephroureterectomy for UTUC does not need to change patient position and robot berth, which effectively shortens the operation time, and achieves good tumor control effect. The short-term follow-up results were satisfactory.

Objective: To investigate the clinical and electroencephalogram (EEG) characteristics and treatment of ring chromosome 14 syndrome, and to improve its early recognition and accurate diagnosis. Methods: The cli-nical and EEG characteristics of 4 patients with ring chromosome 14 syndrome confirmed by genetic diagnosis were analyzed in the neurology outpatient department and ward of pediatrics in Peking University First Hospital from August 2012 to August 2018.The treatment and prognosis of the 4 patients were followed up. Results: Of the 4 patients, there were 2 males and 2 females.All the patients had developmental delay, abnormal facial features such as wide eye spacing, low nasal bridge and microcephaly.Seizures occurred in all the patients with varying onset ages from 8 months to 1 year.Seizure types included focal seizure, tonic seizure and generalized tonic-clonic seizure.EEG monitoring ages varied from 9 months to 4 years and 4 months.The characteristic EEG pattern manifested as slow activity of background, unilateral or bilateral anterior, posterior or diffuse slow activity, with or without interposed multifocal epileptiform discharges.Cranial magnetic resonance imaging (MRI) showed non-specific abnormality in 1 patient and normal in 3 patients.The ages at the last follow-up ranged from 1 year and 8 months to 7 years and 1 month with intervals from 9 months to 6 years and 5 months.Valproic acid combined with other antiepileptic drugs was used to treat seizures.Seizure reduction instead of control was observed in all the 4 cases.At the last follow-up, the development of movement and language were all delayed in the 4 patients.One case could walk independently, three could walk unsteadily alone; two could speak 2-3 simple words, one could call only " baba, mama" , and one had no language development. Conclusions The ring chromosome 14 syndrome is a rare disease caused by chromosome abnormality.Its main clinical manifestations included facial abnormalities, microcephaly, epilepsy, developmental delay especially for language and cognitive disability.The types of seizures included both focal and generalized.EEG showed non-specific features with slow background activity, with the migratory slow waves mixing multi-focal discharges as the main common pattern.The epilepsy of this disease was often drug resistant.Valproic acid combined with other antiepileptic drugs could reduce seizures.Seizures without control could further affect development outcome.