Objective:To analyze the clinical features and outcomes of paroxysmal supraventricular tachycardia (PSVT) in neonates without structural heart disease.Methods:A retrospective study was conducted on PSVT neonates without structural heart disease who were treated and followed up at the Women and Children's Hospital, Qingdao University, from January 2019 to June 2022. Clinical data, including the prenatal history of PSVT, the time at first onset of PSVT after birth, anti-arrhythmic treatment, and follow-up outcomes, were collected and analyzed. These patients were divided into two groups based on the presence and absence of fetal PSVT history. Differences in the clinical data between the two groups were compared, including the time at first onset of PSVT, the proportion of patients with persistent tachycardia at initial diagnosis, and hospitalization frequency. Statistical analysis was performed using t-test, Mann-Whitney U test, or Pearson's Chi-square test. Results:A total of 72 neonates with PSVT were included, with an average gestational age at delivery of (38.8±1.8) weeks and an average birth weight of (3 260±330) g. There were 26 (36.1%) cases with a prenatal history of PSVT, while 46 (63.9%) cases without. The median time at the first onset of PSVT after birth was 2.1 (0.3-13.7) d. Anti-arrhythmic drugs used for the patients included propafenone (44 cases, 61.1%), amiodarone (28 cases, 38.9%), and cedilanid (14 cases, 19.4%). There were 44 cases (61.1%) received single drug therapy, 26 (36.1%) receiving dual therapy, and only two (2.8%) receiving triple therapy. Prophylactic drugs were administered to 38 patients (52.8%) for six months, and 20 (27.8%) for 12 months. Fourteen cases (19.4%) still exhibited tachycardia during follow-up and continued their drug therapy. No major illnesses or deaths occurred in the 72 patients during a 12-month follow-up. Compared with the patients without a history of fetal PSVT, those with a history of fetal PSVT had an earlier onset of PSVT after birth [0.2 d (0.0-0.7 d) vs. 12.0 d (2.2-15.0 d), Z=－4.83, P<0.001], a high rate of persistent tachycardia at first diagnosis [76.9% (20/26) vs. 39.1% (18/46), χ2=4.76, P=0.029], more hospitalizations [4.0 times(3.0-7.0 times) vs. 1.0 times (1.0-1.0 times), Z=－3.52, P<0.001], and longer duration of preventive anti-arrhythmic treatment [12.0 months (10.5-21.0 months) vs. 6.0 months (3.0-6.0 months), Z=－4.17, P<0.001]. Conclusion:Attention should be given to PSVT screening in neonates without structural heart disease, particularly for those with a history of fetal PSVT, who tend to have an early onset of PSVT after birth, persistent tachycardia at first diagnosis with high rates of recurrence and require longer preventive anti-arrhythmic treatment.

Endometriosis, a heterogeneous, inflammatory, and estrogen-dependent gynecological disease defined by the presence and growth of endometrial tissues outside the lining of the uterus, affects approximately 5-10% of reproductive-age women, causing chronic pelvic pain and reduced fertility. Although the etiology of endometriosis is still elusive, emerging evidence supports the idea that immune dysregulation can promote the survival and growth of retrograde endometrial debris. Peritoneal macrophages and natural killer (NK) cells exhibit deficient cytotoxicity in the endometriotic microenvironment, leading to inefficient eradication of refluxed endometrial fragments. In addition, the imbalance of T-cell subtypes results in aberrant cytokine production and chronic inflammation, which contribute to endometriosis development. Although it remains uncertain whether immune dysregulation represents an initial cause or merely a secondary enhancer of endometriosis, therapies targeting altered immune pathways exhibit satisfactory effects in preventing disease onset and progression. Here, we summarize the phenotypic and functional alterations of immune cells in the endometriotic microenvironment, focusing on their interactions with microbiota and endocrine and nervous systems, and how these interactions contribute to the etiology and symptomology of endometriosis.
Female ; Humans ; Endometriosis/metabolism* ; Killer Cells, Natural/metabolism* ; T-Lymphocytes/metabolism* ; Estrogens ; Endometrium/metabolism*

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 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 summarize the genotypes and clinical features of neonatal-onset genetic epilepsy.Methods:Patients (114 cases) with identified gene variants were collected from May 2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed.Results:A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and involving 33 epilepsy genes. Top five genes were KCNQ2 (56 cases), SCN2A (25 cases), STXBP1 (9 cases), CDKL5 (8 cases) and KCNT1 (6 cases), accounting for 73.8% (104/141). The age of seizure onset was 3(1-28) days of age, 71.6% (101/141) were within 1 week of age. The age of genetic diagnosis was 4 months (1 month to 13 years) of age. A total of 130 patients presented focal seizures; 47 patients presented epileptic spasms. Other seizure types included generalized tonic-clonic seizures, clonic seizures, myoclonic seizures, tonic seizures and absence seizures. Fifty-eight patients experienced multiple seizure types. The results of video-electroencephlogram (VEEG) were abnormal in 127 patients and in 62 patients clinical seizures were captured. Global developmental delay was presented in 122 patients. Epilepsy syndromes were diagnosed in 59 patients. Thirteen patients were diagnosed as Ohtahara syndrome (OS), 9 as epilepsy of infancy with migrating focal seizures (EIMFS), 17 as West syndrome (WS), 4 as OS developed to WS, 9 as benign neonatal epilepsy (BNE), 2 as benign familiar neonatal-infantile epilepsy (BFNIE), 2 as benign infantile epilepsy (BIE) and 3 as benign familial infantile epilepsy (BFIE). Sixty-seven patients were diagnosed as unclassified early infantile epileptic encephalopathy (EIEE), 13 patients could not be diagnosed as any epilepsy syndrome, and 2 patients were diagnosed as pyridoxine-dependent epilepsy. Forty-six patients had abnormal neuroimaging including cortical atrophy, corpus callosum dysplasia and cerebellar atrophy, involving 19 genes.Conclusions:Neonatal-onset epilepsy is related to many different genes. Seizure onset age of most patients is within one week after birth. Focal seizures and epileptic spasms are more common. Some patients show abnormal neuroimaging.

Objective:To summarize the clinical characteristics and the features of electroencephalograph (EEG) of children with DEPDC5 gene variants related epilepsy.Methods:The clinical data, gene variation, EEG and head magnetic resonance image (MRI) of 20 epileptic children with DEPDC5 gene variants admitted to Department of Pediatrics, Peking University First Hospital from May 2017 to November 2020 were retrospectively analyzed.Results:Twenty patients with heterozygous DEPDC5 gene variants were enrolled, 8 of 20 patients were nonsense variants, 6 were missense variants, 3 were frame-shift variants, 2 were splicing variants, and 1 was large fragment deletion. Sixteen cases had hereditary variation and 4 had de novo variation. Fifteen of variations were novel. Nine were male, while 11 were female. Their latest follow-up age ranged from 10 months to 13 years and one month.The epilepsy onset age ranged from 3 hours to 11 years and 3 months, the median age was 10.5 months. Twelve (60%) patients had developmental delay. Nineteen patients had focal seizures, 7 had epileptic spasms, 1 had multiple seizure types including tonic, atypical absence, dystonic and myoclonic seizures. Epileptic form discharges were observed in 18 patients during the interictal phase, and 11 were focal discharges, 7 were multifocal discharges. Ten (50%) patients had abnormal brain MRI, including focal cortical dysplasia in 5 patients, undefined malformation of cortical development in 4 patients, hemimegalencephaly in 1 patient. Four patients were diagnosed as West syndrome and one patient was diagnosed as Lennox-Gastaut syndrome. Fourteen (70%) patients were diagnosed as drug-resistant epilepsy. Four patients became seizure-free by treatment with anti-epileptic drugs. Three children were treated with surgery, and 2 of them became seizure-free, 1 had more than 75% reduction in seizures.Conclusions:DEPDC5 gene variant epilepsy is inherited with incomplete penetrance and focal seizure is the major seizure type. However, epileptic spasms, generalized seizures can also be observed. Half of the patients brain malformations. Most of the patients are drug-resistant epilepsy. Patients with clear epileptogenic zones can be treated with surgery. Treatment-resistant patients are more likely to be complicated with developmental delay.

Objective:To investigate the safety and effectiveness of multi-stent overlapping assisted coil embolization for ruptured intracranial blood blister-like aneurysms (BBA).Methods:Patients with intracranial BBA admitted to the Affiliated Quanzhou First Hospital of Fujian Medical University and treated with multi-stent overlapping assisted coil embolization from January 2013 to January 2019 were enrolled retrospectively. The embolization rate immediately after procedure, modified Rankin Scale (mRS) score at discharge, aneurysm embolization rate, recurrence rate and mRS scores at 3 months after procedure were collected.Results:A total of 38 patients with BBA were enrolled, including 21 females (55.3%) and 17 males (44.7%); their age was 54±9.3 years (range, 29-71 years); the maximum diameter of aneurysm was 5.1±1.0 mm, and the diameter of aneurysm neck was 4.9±0.7 mm. Raymond grading showed that the complete embolization rate immediate after procedure was 71.1%, the residual rate of aneurysmal neck was 18.4%, and the residual rate of aneurysmal body was 10.5%. During the perioperative period, 2 patients had stent thrombosis and 2 had intraoperative aneurysm hemorrhage. Imaging follow-up at 3 months after procedure showed that the aneurysms of 31 cases (83.8%) disappeared completely, 4 (10.8%) improved, and 2 (5.4%) recanalized. The good clinical outcome rate (mRS score ≤ 2) was 81.1%, 1 patient (2.6%) died, and no postoperative rebleeding occurred.Conclusion:Multi-stent overlapping assisted coil embolization is a safe and effective surgical method for the treatment of ruptured intracranial BBA.

Objective:To summarize the clinical phenotype and gene mutation characteristics of male patients with epilepsy caused by mosaic PCDH19 mutation. Methods:The clinical data of 3 male patients with epilepsy caused by mosaic PCDH19 mutation were analyzed.Microdroplet digital polymerase chain reaction (mDDPCR) was used for the detection of mosaicism in the three probands and their family members.Relevant literatures were reviewed. Results:The seizure onset age were 5 months, 9 months and 6 months of life respectively.Focal seizures occurred in 2 cases and multiple seizure types occurred in 1 case.Three patients presented with clusters of seizures.Fever sensitivity was observed in 2 cases out of the 3 cases.Two patients had intellectual disability and 1 patient had autistic manifestation.The clinical phenotype in 2 patient fulfilled the diagnosis of Dravet syndrome. PCDH19 mosaic mutations c. 317T>A(p.M106K), c.158dupT(p.D54Gfs*35) and c. 1639G>C(p.A547P) were detected respectively, and were identified as de novo after parental validation.Mutant allele fractions (MAF) in the blood samples were identified as 81.18%, 37.08%, 77.64%, respectively.The MAF of multiple tissues in 1 patient varied from 78.67% to 98.46%.Review of literature revealed that a total of 11 cases with mosaic PCDH19 mutation were reported.Among them, seizure onset occurred between 5 and 31 months of age.Focal seizures occurred in 9 cases, 3 cases of the 9 cases had only focal seizures.Generalized tonic clonic seizures occurred in 4 cases.Two or more seizures were observed in 6 cases.Clustering of seizures was found in all patient and sensitivity to fever was observed in 9 patients.Seven patients had mild to severe intellectual disability and 5 patients had autistic features. Conclusions:The clinical phenotypes of male patients with epilepsy caused by PCDH19 mosaic mutation are characterized by clustering of seizures, sensitivity to fever, focal seizures in most cases, varied degree of intellectual disability and autistic features in partial.

Post-traumatic tetanus is the main type of non-neonatal tetanus.To reduce the incidence and mortality rateof tetanus and guide the primary medical institutions to prevent and control tetanus after trauma,the National Immunization Planning Technical Working Group of the Chinese Center for Disease Control and Prevention has compiled this document in the reference with Position Paper by World Health Organization,and the latest research progress both at home and abroad.The guidelines focus on the basic procedures for the prevention and treatment of post-traumatic tetanus,the application of tetanus vaccines and immune preparation,and pre-exposure immunization in high-risk populations of trauma.

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.