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1.
Zhonghua Er Ke Za Zhi ; 59(12): 1048-1054, 2021 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-34856664

RESUMO

Objective: To summarize the clinical characteristics of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and compare the differences in efficacy of different disease-modifying drugs. Methods: An ambispective cohort study was conducted in 42 children diagnosed with MOGAD at Department of Pediatrics, Peking University First Hospital from January 2012 to March 2021 and conducted long-term follow-up to analyze clinical phenotypes and compare the efficacy of different disease-modifying drugs such as rituximab, mycophenolate mofetil and azathioprine. Kruskal-Wallis H test was used to compare the annual relapse rate of disease-modifying drugs at different times, expanded disability status scale (EDSS) score at the last follow-up, and Wilcoxon rank test was used to compare the annual relapse rate before and after modified disease therapy. The Log-rank (Mantel-Cox) survival curve was used to compare the relapse rate of different disease-modifying drugs. Results: Of the 42 cases, 22 were male and 20 were female, with the age at disease onset of 5.96 (2.33-12.90) years. The disease duration was 4.46 (1.25-13.00) years at the last follow-up with 161 clinical acute attacks. Acute disseminated encephalomyelitis (ADEM) was the most common phenotype of first attack and all attacks during disease course ((60% (25/42) for first attack, 38% (61/161) for all attacks). The most common clinical syndrome was neuromyelitis optica spectrum disorders (NMOSD) (50%, 21/42). Of the 42 children, 5 (12%) showed encephalitis and 6 (14%) combined with anti-N-methyl-D-aspartate receptor (NMDAR) antibody overlap syndrome. The most commonly involved areas of brain magnetic resonance imaging (MRI) were subcortical white matter (71%, 88/124), cortex (26%, 32/124) and periventricular white matter (25%, 32/124). Spinal cord MRI was most frequently involved in cervical (70%, 16/23) and thoracic (61%, 14/23) medulla, and 43% (10/23) longitudinally extensive transeverse myelitis. Disease-modifying drugs were used in 34 patients. The annual relapse rate after treatment with rituximab, mycophenolate mofetil and azathioprine decreased (all P<0.05) and there was no statistically significant difference in the annual relapse proportion among the groups (P=0.307). Conclusions: The most common clinical attack of first and all of MOGAD in children is ADEM, and the most common clinical syndrome is NMOSD. Rituximab, mycophenolate mofetil and azathioprine can reduce the annual relapse rate, but it is not clear effect of which treatment is better.

2.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 56(11): 1138-1143, 2021 Nov 09.
Artigo em Chinês | MEDLINE | ID: mdl-34763412

RESUMO

Metabolic syndrome is a cluster of metabolic abnormalities including abdominal obesity, insulin resistance, hypertension and atherogenic dyslipidemia and is associated with increased risk of cardiovascular disease and diabetes. Periodontitis is a chronic inflammatory disease caused by plaque biofilm, which shares risk factors with the major noncommunicable diseases such as heart disease, diabetes and chronic respiratory disease. Many cross-sectional studies have investigated the link between periodontal disease and metabolic syndrome showing that the odds of periodontitis increase with the number of metabolic syndrome components present in an individual although the causal relationship between them has not been determined yet. In this paper, the research progress on the relationship and mechanism of periodontitis with the main characteristics of metabolic syndrome are presented in order to provide new evidences for the prevention and intervention of metabolic syndrome and periodontitis.


Assuntos
Síndrome Metabólica , Doenças Periodontais , Periodontite , Estudos Transversais , Humanos , Síndrome Metabólica/complicações , Periodontite/complicações , Fatores de Risco
3.
Zhonghua Gan Zang Bing Za Zhi ; 29(10): 1001-1005, 2021 Oct 20.
Artigo em Chinês | MEDLINE | ID: mdl-34814396

RESUMO

Objective: To investigate the risk factors for recurrence of early and late stage hepatocellular carcinoma after receiving hepatic artery embolization combined with radiofrequency ablation therapy. Methods: 246 cases with hepatocellular carcinoma who underwent hepatic artery embolization combined with radiofrequency ablation in Beijing You'an Hospital Affiliated to Capital Medical University from January 2006 to January 2011 were selected. Clinical and follow-up data were collected. Univariate Cox analyses was used to determine the factors influencing recurrence of early and late stage HCC after hepatic artery embolization combined with radiofrequencies ablation. Multivariate Cox regression analysis was used to determine the independent factors. Results: 246 case with hepatocellular carcinoma were treated with hepatic artery embolization combined with radiofrequency ablation, with median follow-up time of 99 months. A total of 179 cases had recurrence and 67 cases had no recurrence. Considering 24 months as the limit, 95 cases had early recurrence and 84 cases had late recurrence. The 1-, 2-, 3-, 5-, and 10-year recurrence rates were 21.3%, 39.0%, 53.0%, 67.3%, and 77.6%, respectively. Multivariate Cox regression analysis showed that the maximum tumor diameter (HR = 2.183, 95% CI: 1.414-3.369, P < 0.01) and tumor number (HR = 1.681, 95% CI: 1.110-2.545, P < 0.05) were independent factor influencing recurrence of early stage HCC after hepatic artery embolization combined with radiofrequency ablation. Liver cirrhosis (HR = 0.421, 95% CI: 0.272-0.651, P < 0.01) was an independent factor influencing recurrence of late stage HCC after hepatic artery embolization combined with radiofrequency ablation. Conclusion: Tumor diameter and number are independent factors influencing recurrence of early stage HCC, while liver cirrhosis is an independent factor influencing recurrence of late stage HCC after hepatic artery embolization combined with radiofrequency ablation therapy.


Assuntos
Carcinoma Hepatocelular , Ablação por Cateter , Neoplasias Hepáticas , Ablação por Radiofrequência , Carcinoma Hepatocelular/cirurgia , Artéria Hepática , Humanos , Neoplasias Hepáticas/cirurgia , Recidiva Local de Neoplasia/epidemiologia , Estudos Retrospectivos , Fatores de Risco
4.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(5): 794-800, 2021 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-34814469

RESUMO

Objective: To analyze the trend of morbidity and mortality of pancreatic cancer in China from 2005 to 2015 and estimate the related age, period and cohort effect, respectively. Methods: Joinpoint regression analysis was used to analyze the trend of morbidity rate and mortality rate of pancreatic cancer during 2005-2015 and calculate the annual percentage change and average annual percentage change based on the data in the annual report of China Cancer Registry. Population aged 20-84 years was fitted by the Age-Period-Cohort model to estimate the effect parameters of age, period and cohort. Results: The trend variations of the crude morbidity rate and crude mortality rate of pancreatic cancer were consistent. The morbidity rate of pancreatic cancer firstly increased before 2008 and then decreased. The morbidity rate and mortality rate of pancreatic cancer were higher in men than women, and higher in urban areas than in rural areas. From 2005 to 2015, the overall age-standardized morbidity rate of pancreatic cancer increased by 2.78% annually and the overall age standardized mortality rate of pancreatic cancer increased by 2.24% annually. The age standardized morbidity of pancreatic cancer in rural men changed more rapidly, with an average annual increase of 3.74%, and the age standardized mortality rate of pancreatic cancer in urban men changed more rapidly, with an average annual increase of 3.57%. The age effect on the morbidity and mortality of pancreatic cancer increased with age, and the effect was most obvious in age group 70-80 years, the period effect increased over time and the cohort effect decreased with year, but rebound or fluctuation was observed after 1976. Conclusions: The morbidity rate and mortality rate of pancreatic cancer in China increased slightly in past decades. Strategies on effective prevention and control of pancreatic cancer should be developed in the future.


Assuntos
Neoplasias Pancreáticas , População Rural , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Humanos , Incidência , Masculino , Morbidade , Mortalidade , Neoplasias Pancreáticas/epidemiologia , Sistema de Registros , População Urbana
5.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(7): 1174-1178, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34814527

RESUMO

The cohort study of lung cancer in high-risk population in communities in China was a part of Lung Cancer Cohort Study initiated in 2017 and funded by Precision Medicine Research of National Key Research and Development Program. Around 50 000 participants from the communities were enrolled from 7 cities in 7 regions in China. Information about the risk factors for lung cancer were collected and the populations at high risk for lung cancer were identified. Then, low-dose CT (LDCT) screening of lung cancer was conducted in the populations at high risk, and further information about the diagnosis of lung cancer cases and death cases were collected. Therefore, a community population-based cohort was established for lung cancer risk factor exposure survey, high risk population evaluation, LDCT screening and lung cancer case and death follow up. Meanwhile, biological samples were collected from all the participants in the cohort to support the future precision medicine research of lung cancer.


Assuntos
Detecção Precoce de Câncer , Neoplasias Pulmonares , Estudos de Coortes , Humanos , Neoplasias Pulmonares/epidemiologia , Fatores de Risco , Tomografia Computadorizada por Raios X
6.
Zhonghua Nei Ke Za Zhi ; 60(7): 665-668, 2021 Jul 01.
Artigo em Chinês | MEDLINE | ID: mdl-34619845

RESUMO

The purpose of this study was to improve the ability to visualize and diagnose congenital nephrogenic diabetes insipidus (CNDI). The clinical manifestations, laboratory examination findings, imaging features and treatment outcomes of 22 patients with CNDI admitted to the First Affiliated Hospital of Zhengzhou University from May 2013 to May 2020 were retrospectively analyzed. Among the 22 patients with CNDI, 86.4% (19 cases) were male. The age of the 22 patients ranged from 2 months to 47 years old, in which 20 cases were younger than 30 years old and 2 cases were older than 30 years old. The clinical manifestations were polydipsia and polyuria, accompanied with various degrees of fever, defects in growth and development, and increased serum creatinine in some patients. Fifteen patients (68.2%) had different degrees of bilateral kidney and ureteral hydronephrosis, and increased residual urine volume in the bladder. Pituitary magnetic resonance imaging (MRI) enhanced scan showed that the high signal intensity in the posterior pituitary lobe was not detectable in 5 cases (22.7%), and blurred in 6 cases (27.3%). Seven tested patients were all found AVPR2 gene mutation. For patients with suspected CNDI, water-inhibiting vasopressin test and genetic testing should be performed in time so as to confirm diagnosis and treat as early as possible.


Assuntos
Diabetes Insípido Nefrogênico , Diabetes Mellitus , Adolescente , Adulto , Criança , Pré-Escolar , Diabetes Insípido Nefrogênico/congênito , Diabetes Insípido Nefrogênico/diagnóstico , Diabetes Insípido Nefrogênico/genética , Feminino , Humanos , Lactente , Rim , Masculino , Pessoa de Meia-Idade , Mutação , Receptores de Vasopressinas/genética , Estudos Retrospectivos , Adulto Jovem
7.
Zhonghua Er Ke Za Zhi ; 59(9): 752-758, 2021 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-34645215

RESUMO

Objective: To establish reference ranges for Doppler echocardiography in preterm infants within 7 days after birth based on different gestational age (GA), birth weight (BW) and body surface area (BSA). Methods: This retrospective study analyzed Doppler echocardiographic measurements of 489 premature infants, who were admitted to the neonatal Intensive Care Unit of Department of Pediatrics, Peking University Third Hospital from March 2017 to February 2020. These infants were divided into four groups according to GA:<28 weeks, 28-31+6 weeks, 32-33+6 weeks and 34-36+6 weeks; and five groups according to BW:<1 000 g, 1 000-1 499 g, 1 500-1 999 g, 2 000-2 499 g and ≥ 2 500 g;and 14 groups according to BSA from 0.07-0.20 m2. The Doppler values among groups were compared by independent sample KW test, and based on which, the 95%CI were established as reference ranges. Results: Among the 489 preterm infants, males were 264 and females were 225. Their GA, BW and BSA were 32.0 (30.0,33.9) weeks, 1 700 (1 260,2 040) g and 0.13 (0.11,0.15)m2, respectively. Measurements are presented charting as 95%CI with respect to GA,BW and BSA for preterm infants aged 0-7 days. Aortic valve(AV) flow rate, mitral valve E peak (MV-E), mitral valve E/A (MV-E/A) and tricuspid valve E peak (TV-E) were all correlated with GA, BW and BSA (r = 0.263, 0.256, 0.324 and 0.114 for GA; 0.292, 0.261, 0.281 and 0.135 for BW; 0.287, 0.268, 0.312 and 0.140 for BSA, all P<0.05). Within the first 7 days after birth, the greater the GA, birth weight and BSA, the greater the AV, MV-E, MV-E/A and pulmonary valve flow rate(all P<0.05). According to the above grouping of GA, the 95%CI of AV were 48-54, 52-57, 58-63 and 60-65 cm/s, respectively; and the 95%CI of MV-E were 32-37, 33-36, 39-42 and 40-45 cm/s, respectively; and the 95%CI of MV-E/A were 0.66-0.73, 0.74-0.80, 0.81-0.90 and 0.92-1.06. And according to the above grouping of BW, the 95%CI of AV were 45-53, 49-53, 59-64, 60-66 and 56-65 cm/s, respectively; 95%CI of MV-E were 29-35, 32-36, 38-41, 40-44 and 38-46 cm/s, respectively; 95%CI of MV-E/A were 0.65-0.74, 0.74-0.81, 0.81-0.99, 0.86-0.99 and 0.84-1.07. Conclusion: The 95%CI of Doppler echocardiographic measurements established based on GA, BW and BSA could provide a reference for preterm infants aged 0-7 days.


Assuntos
Ecocardiografia Doppler , Recém-Nascido Prematuro , Peso ao Nascer , Criança , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Valores de Referência , Estudos Retrospectivos
8.
Zhonghua Er Ke Za Zhi ; 59(9): 767-771, 2021 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-34645217

RESUMO

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.


Assuntos
Epilepsia , Espasmos Infantis , Idoso , Eletroencefalografia , Epilepsia/genética , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas do Tecido Nervoso , Canais de Potássio Ativados por Sódio , Estudos Retrospectivos , Convulsões , Espasmos Infantis/genética
9.
Phys Rev Lett ; 127(15): 152702, 2021 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-34678013

RESUMO

Fluorine is one of the most interesting elements in nuclear astrophysics, where the ^{19}F(p,α)^{16}O reaction is of crucial importance for Galactic ^{19}F abundances and CNO cycle loss in first generation Population III stars. As a day-one campaign at the Jinping Underground Nuclear Astrophysics experimental facility, we report direct measurements of the essential ^{19}F(p,αγ)^{16}O reaction channel. The γ-ray yields were measured over E_{c.m.}=72.4-344 keV, covering the Gamow window; our energy of 72.4 keV is unprecedentedly low, reported here for the first time. The experiment was performed under the extremely low cosmic-ray-induced background environment of the China JinPing Underground Laboratory, one of the deepest underground laboratories in the world. The present low-energy S factors deviate significantly from previous theoretical predictions, and the uncertainties are significantly reduced. The thermonuclear ^{19}F(p,αγ)^{16}O reaction rate has been determined directly at the relevant astrophysical energies.

10.
Zhonghua Shao Shang Za Zhi ; 37(10): 921-928, 2021 Oct 20.
Artigo em Chinês | MEDLINE | ID: mdl-34689461

RESUMO

Objective: To explore the role of first-aid network construction in the early treatment of patients with critically severe hydrofluoric acid burns. Methods: Twenty-seven fluorine chemical enterprises distributed in Zhejiang province, Jiangxi Province, Fujian Province, and Inner Mongolia Autonomous Region and 22 hospitals with burn/plastic department or professional burn treatment group in Zhejiang province, including Zhejiang Quhua Hospital, and 5 hospitals outside Zhejiang province were involved in the first-aid network construction as member units. As the main unit, Zhejiang Quhua Hospital was responsible for the daily maintenance and technical guidance of the first-aid network. Zhejiang Quhua Hospital was assigned as the designated emergency hospital for 20 fluorine chemical enterprises, a near emergency hospital to the other 7 fluorine chemical enterprises was assigned as the designated hospital for them. Medical records of 56 patients (all males) with critically severe hydrofluoric acid burns who admitted to 5 first-aid network hospitals from January 2006 to June 2021, meeting the inclusion criteria, were involved in the retrospective cohort study. Based on whether the enterprise belonging to the first-aid network construction or not, the patients were divided into first-aid network group (27 cases, aged (41±9) years) and non first-aid network group (29 cases, aged (42±10) years). After the patients in the first-aid network group were injured, the enterprises and hospitals linked up immediately. The hospital where the patient was treated mobilize the treatment force, equipment, materials, and drugs in advance by the first-aid network, thereby realizing seamless joint between pre-hospital first-aid and in-hospital treatment. The hospital started the first-aid process and temporarily mobilized the rescue forces, equipment, materials, and drug after patients in non first-aid network group arrived at the department of emergency of the hospital. The time from injury to medical service, the first detection time of serum calcium, the time staying in department of emergency, the duration of hypocalcemia and hypomagnesemia, and the treatment outcome of patients in the two groups were recorded. Data were statistically analyzed with chi-square test, Fisher's exact probability test, independent-sample t test, and Wilcoxon rank-sum test. Results: The time from injury to medical service, the first detection time of serum calcium, and the time staying in department of emergency of patients in first-aid network group were 40.0 (30.0, 55.0), 23.0 (17.5, 37.5), and 42.0 (37.0, 53.0) min, which were significantly shorter than 180.0 (120.0, 240.0), 31.0 (22.5, 47.5), 61.0 (52.0, 65.5) min in non first-aid network group (Z=-6.17, -1.98, -4.15, P<0.05 or P<0.01). The duration of hypocalcemia and hypo- magnesemia of patients in first-aid network group were 1.2 (1.1, 1.6) and 1.9 (1.7, 2.1) h, which were significantly shorter than 4.6 (3.1, 6.2) and 3.2 (2.5, 4.6) h in non first-aid network group (Z=-5.80, -4.81, P<0.01). Three patients (11.1%) in first-aid network group died, among whom 2 patients died at 40 min after injury and 1 patient died 9.0 h after injury. Four patients (13.8%) died in non first-aid network group at 3.0, 3.0, 4.5, and 7.0 h after injury, respectively. The mortality rates of patients in the two groups were similar (P>0.05). Conclusions: Critically severe hydrofluoric acid burn is an extremely urgent situation encountered in clinical practice. The construction of a first-aid network creates condition for on-site treatment of patients and improves the first-aid efficiency, thereby gaining time to save lives.


Assuntos
Queimaduras , Hipocalcemia , Hospitalização , Humanos , Ácido Fluorídrico , Masculino , Estudos Retrospectivos
11.
Zhonghua Nei Ke Za Zhi ; 60(11): 987-992, 2021 Nov 01.
Artigo em Chinês | MEDLINE | ID: mdl-34689520

RESUMO

Objective: To analyze the efficacy and safety of Daratumumab for the treatment of primary AL light chain systemic amyloidosis. Methods: Twenty one patients who were diagnosed as primary AL light chain systemic amyloidosis and treated with Daratumumab from 7 centers were retrospectively analyzed. Daratumumab was administrated as first line therapy in seven patients and 14 patients with relapsed settings. Hematological response, safety and survival were analyzed. Results: All 7 patients achieved very good partial response (VGPR) or better with first-line application of daratumumab. Three patients died, and the other four achieved organ remission. Among 14 relapsed patients, 2 patients had a difference of free light chain (dFLC) less than 20 mg/L before treatment, and 9 with a dFLC of more than 50 mg/L. All patients reached partial response (PR) or better, including 4 patients with complete response (CR), 3 with VGPR and 2 with PR. The response rate was 100% in 3 patients with dFLC 20-50 mg/L at baseline. The organ remission rate was 50% in patients with heart involvement and 58.3% in patients with kidney impairment. The overall median follow-up period was 5.3 months, and 11 months in surviving patients. One patient died of severe infection and disseminated intravascular coagulation (DIC) with stable amyloidosis. One patient switched to other regimens because dFLC elevated but did not fulfill progressive disease after 2 year application. As to safety, no grade 3/4 infusion reaction developed, and grade 1 infusion reaction occurred in 3 cases during the first infusion. Lymphocytopenia was seen in 75% patients including grade 3 or more in 30% patients. Conclusion: Daratumumab is effective to eliminate serum free light chain in both newly diagnosed and relapsed patients with systemic amyloidosis.


Assuntos
Amiloidose de Cadeia Leve de Imunoglobulina , Anticorpos Monoclonais/uso terapêutico , Humanos , Cadeias Leves de Imunoglobulina , Estudos Retrospectivos , Resultado do Tratamento
13.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(10): 1250-1255, 2021 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-34706513

RESUMO

Microsimulation model research can simulate a large number of micro individuals with different characteristics, build disease progression models, and evaluate the effects and benefits of risk factor control and early intervention strategies used in disease prevention and control, which could overcome the limitations of traditional epidemiological research, such as high investment and long time-consuming, and provide important evidence support for decision-making. This study introduces the definition and methods of microsimulation model, and articulates the application of three modeling methods including Markov model, decision-tree model and discrete event model in the primary and secondary cancer prevention, in order to provide reference for relevant disease prevention and control research in the future.


Assuntos
Modelos Teóricos , Neoplasias , Simulação por Computador , Humanos , Neoplasias/prevenção & controle , Fatores de Risco , Prevenção Secundária
14.
Zhonghua Er Ke Za Zhi ; 59(10): 859-864, 2021 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-34587683

RESUMO

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.


Assuntos
Epilepsia , Espasmos Infantis , Criança , Eletroencefalografia , Epilepsia/genética , Feminino , Proteínas Ativadoras de GTPase , Genótipo , Humanos , Lactente , Masculino , Fenótipo , Estudos Retrospectivos
15.
Zhonghua Fu Chan Ke Za Zhi ; 56(9): 598-608, 2021 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-34547860

RESUMO

Objective: To investigate the clinical characteristics and perinatal outcomes of pregnancy with placental cystic lesions. Methods: A retrospective study was carried out on 48 pregnant women diagnosed as pregnancy complicated with placental cystic lesions from January 2000 to January 2020 at the Women's Hospital, Zhejiang University School of Medicine. The clinical features, pathological diagnosis and perinatal outcome were analyzed. Results: The age of 48 cases was (30±5) years, and the diagnostic gestational week of ultrasound was (24±8) weeks. Twenty-five cases in which showed a cystic mass at the fetal surface were diagnosed as placental cyst. The live birth rate was 100% (25/25) and the premature birth rate was 20% (5/25). Twenty-three cases showed "honeycomb like" cystic echo. Cystic lesions of 10 cases were located in the uterine cavity connected with the margin of the normal placenta, and finally diagnosed as hydatidiform mole and coexisting fetus (HMCF). Six cases of HMCF terminated pregnancy, and the live birth rate was 4/10, the premature delivery rate was 2/4. Cystic lesions of 13 cases were located in the placenta substance, and finally diagnosed as 4 cases of placental mesenchymal dysplasia (PMD) and 9 cases of focal chorionic edema; the live birth rate was 6/13 and the premature delivery rate was 4/6. The median hCG was lower in focal chorionic edema group [80 kU/L (60-110 kU/L)] than in the groups of HMCF [240 kU/L (180-430 kU/L)] and PMD [360 kU/L (210-700 kU/L)], and the differences were statistically significant (all P<0.01). Conclusions: For pregnancy complicated with placental cystic lesions, prenatal ultrasound should be performed to evaluate the shape, location and blood flow of the lesions. Maternal serological examination and invasive prenatal diagnosis are helpful for prenatal diagnosis and treatment. Due to the difference of perinatal outcomes, maternal and fetal complications, individualized pregnancy management should be carried out.


Assuntos
Mola Hidatiforme , Doenças Placentárias , Neoplasias Uterinas , Adulto , Feminino , Humanos , Placenta/diagnóstico por imagem , Doenças Placentárias/diagnóstico por imagem , Doenças Placentárias/epidemiologia , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
16.
Zhonghua Er Ke Za Zhi ; 59(8): 640-644, 2021 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-34333915

RESUMO

Objective: To explore the risk factors and regularity of pediatric primary Epstein-Barr virus (EBV) infection accompanied with elevated transaminase. Methods: Clinical data of 399 children diagnosed as primary EBV infection in the outpatient department, Children's Hospital of Fudan University from September 2016 to October 2017 were analyzed retrospectively. Logistic regression analysis was performed to determine the potential correlations between elevated alanine transaminase (ALT) or aspartate transaminase (AST) and age, gender, course of fever and plasma EBV-DNA load. The cumulative rates of elevated transaminase recovery to nomal at different times were caculated. Results: Among 399 children diagnosed with primary EBV infection, there were 219 males and 180 females. The age was (4.2±2.7) years. Among all cases, 51.9% (207/399) had elevated transaminase. In patients who had elevated ALT, 74.5% (149/200), 21.0% (42/200) and 4.5% (9/200) had mild (40-160 U/L), moderate (160-400 U/L) and severe (>400 U/L) elevation of ALT, respectively. In patients who had elevated AST, 83.8% (155/185), 11.9% (22/185) and 4.3% (8/185) had mild (40-160 U/L), moderate (160-400 U/L) and severe (>400 U/L) elevation of AST, respectively. Only age was correlated with the occurrence of elevated transaminase (OR=1.13, 1.10, both P<0.05). A total of 167 repeated tests were ordered in patients with elevated ALT and/or AST, including 113 cases with elevated ALT and 104 cases with elevated AST. The time of ALT and AST returned to normal were (24±13) days and (25±18) days respectively. The cumulative rates for ALT returned to normal within 1, 1-<4, 4-<8 weeks and more than 8 weeks were 2.7% (3/113), 54.0% (61/113), 79.6% (90/113) and 81.4% (92/113) respectively, and were 1.9% (2/104), 48.1% (50/104), 71.2% (74/104) and 74.0% (77/104) for AST. Conclusions: Age is a risk factor for transaminase elevation associated with primary EBV infection in children. The transaminases returned to normal within 3 weeks in half of the cases, and within 8 weeks in most cases.


Assuntos
Infecções por Vírus Epstein-Barr , Herpesvirus Humano 4 , Alanina Transaminase , Aspartato Aminotransferases , Criança , Pré-Escolar , Infecções por Vírus Epstein-Barr/epidemiologia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(8): 978-982, 2021 Aug 06.
Artigo em Chinês | MEDLINE | ID: mdl-34445836

RESUMO

Objective: This study retrospectively analyzed an outbreak of dengue fever in Puyang of Henan province in 2019, in order to find the sources of infection. Methods: Dengue virus IgM/IgG and NS1 antigen were tested by colloidal gold method. E gene was amplified by PCR. MegaX was used for sequences alignment to construct evolutionary distance trees. Results: After clinical and laboratory confirmation, there were 81 cases of dengue fever, 17 of which were imported case who were local farmers and worked in Combadia and Thailand, and 64 of which were indigenous cases. The E gene alignment results showed that the pathogen of this epidemic was Vietnamese 1 and highly homologous with the Vietnamese strain. After the local outbreak, dengue virus E gene developed a nucleotide site mutation which can be steadily transmission. Conclusion: The dengue fever outbreak in Puyang was a local outbreak caused by dengue virus type 1, which was associated with imported cases. Gene sequencing showed that the imported pathogen had a relatively stable and transmissible nucleotide mutation after the local epidemic.


Assuntos
Vírus da Dengue , Dengue , Dengue/epidemiologia , Vírus da Dengue/genética , Surtos de Doenças , Humanos , Filogenia , Estudos Retrospectivos
19.
Zhonghua Xin Xue Guan Bing Za Zhi ; 49(8): 809-812, 2021 Aug 24.
Artigo em Chinês | MEDLINE | ID: mdl-34404191

RESUMO

Objective: To investigate the clinical characteristics of patients with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) complicating with intracardiac thrombosis. Methods: This is a retrospective observational study. Consecutive patients diagnosed with HCM or RCM and complicated with intracardiac thrombosis (including left and right atrium or ventricular thrombosis), who were admitted to the Heart Failure Care Unit of Fuwai Hospital, Chinese Academy of Medical Sciences, from September 2008 to September 2018, were enrolled in this study. Patients with myocardial infarction were excluded. The general clinical data of the enrolled patients, including demographic data, major complications, laboratory indicators, echocardiographic indicators, drug application and distribution of intracardiac thrombosis, were collected from electronic medical record system and analyzed. Results: A total of 98 patients were enrolled in this study, including 52 patients (53.1%) with HCM and 46 patients (46.9%) with RCM. The most common comorbidity was atrial fibrillation/flutter: 40 patients (76.9%) in HCM group and 36 patients (78.3%) in RCM group. Majority of patients received oral anticoagulants treatment: 43 patients (82.7%) in HCM group and 35 patients (76.1%) in RCM group. Intracardiac thrombosis was mainly located in the left atrium in both HCM group (39 cases (75.0%)) and RCM group (32 cases (69.6%)). Thrombosis was found in ≥ 2 chambers in 7 patients (7.1%). Rate of left atrial thrombosis was the highest (81.6% (62/76)) in HCM and RCM patients complicating with atrial fibrillation/flutter. Intra-aneurysmal thrombosis occurred in 4 out of 5 patients complicated with apical left ventricular aneurysm. The rate of left ventricular thrombosis in patients with left ventricular ejection fraction≥50% was 7.4% (4/54), which was significantly lower than that in patients with left ventricular ejection fraction<50% (34.5%(10/29)) (P<0.01). Conclusion: There are certain distribution characteristics of HCM and RCM patients with intracardiac thrombosis, and the left atrium is the most common site of thrombosis, more attention should be paid in HCM and RCM patients on the diagnosis and treatment of intracardiac thrombosis.

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