RESUMO
OBJECTIVE: Protocadherin-19 (PCDH19) epilepsy is a rare female restricted epilepsy syndrome with early onset seizures and developmental delay caused by a change or mutation of the PCDH19 gene on the X chromosome. SCN1A-negative patients with a Dravet-like phenotype may have a gene mutation in PCDH19. The aim of this case series was to characterize the phenotype of epileptic patients according to PCDH19 mutations, antiseizure medications, brain images and mutation types in Taiwan. METHODS: We retrospectively reviewed the medical records of patients with PCDH19 epilepsy from July 2017 to December 2021 from multiple centers in Taiwan. We analyzed the patients' clinical data and genetic reports. RESULTS: Fifteen female patients (age 3-23 years) were enrolled. Seizure onset was at 4 months to 2 years 7 months of age with generalized tonic-clonic or focal seizures. Seizure frequency tended to be in clusters rather than single longer seizures. The patients had varying degrees of intellectual disability, however 3 had no impairment. Two patients had abnormal brain images including mesial temporal sclerosis, subcortical and periventricular white matter lesions. On average, the patients received 4 antiseizure medications (range 3-6), including 9 patients who were seizure free, and 3 who received sodium channel blockers without aggravation. Missense and truncating variants (frameshift and nonsense variants) accounted for 40% and 46.7% of all mutations. The mutations of 13 patients were located on EC1 to EC4, and EC5 to cytoplasmic domain in 2 patients. SIGNIFICANCE: PCDH19 epilepsy has distinct phenotypes and an unusual X-linked pattern of expression in which females manifest core symptoms. Psychiatric and behavioral problems are frequently part of the clinical picture. Patients are usually treated with a wide array of standard antiseizure medications, with no preferred antiseizure medication class. No strong correlations between phenotype and location of variant mutations were found in our patients.
RESUMO
Background: Cardiovascular diseases are the leading cause of death among patients on hemodialysis, with approximately 40% of the cardiovascular deaths linked to acute coronary syndrome. We aimed to investigate the incidence and risk factors of acute coronary syndrome in patients undergoing hemodialysis. Methods: Patients undergoing hemodialysis were prospectively enrolled from January 2018. Data regarding hospitalization due to acute coronary syndrome were collected at 3-month intervals through December 31, 2021. Cox regression model was used to estimate the association between baseline factors and incident acute coronary syndrome during follow-up. Results: Patients' mean age was 66 years, 48% were men, and 16% had a history of coronary artery disease at enrolment. Over a median follow-up of 1,187 days, 85 patients were hospitalized due to acute coronary syndrome. Left main or triple vessel disease was identified in 67 patients. Risk factors associated with incident acute coronary syndrome included aging, male sex, smoking, low diastolic blood pressure, and baseline comorbidities, in addition to dialysis factors including low urea clearance, central venous catheter use, and history of dialysis access dysfunction. After multivariate analysis, age, diabetes, hyperlipidemia, smoking, and frequent interventions for vascular access remained significant risk factors. Conclusions: A high acute coronary syndrome incidence was observed in our cohort, with traditional risk factors playing a consistent role with that in the general population. A history of frequent dialysis access dysfunction was also associated with incident acute coronary syndrome.
RESUMO
BACKGROUND: The clinical presentations of abusive head trauma can abruptly worsen, so the occurrence of seizures and changes of EEG can be variable according to patients' conditions. Since the changes of EEG background waves reflect the cortical function of children, we aimed to find out whether the timing of EEG background, epileptiform discharges and seizure patterns were associated with the outcomes of patients with AHT. MATERIAL AND METHODS: Using seizure type and acute stage electroencephalographic (EEG) characteristics to assess adverse neurological outcomes in children with seizures secondary to abusive head trauma (AHT). Children who were hospitalized with AHT at a tertiary referral hospital from October 2000 to April 2010 were evaluated retrospectively. A total of 50 children below 6 years of age admitted due to AHT were included. KOSCHI outcome scale was used to evaluate the primary outcome and neurological impairment was used as secondary outcome after 6 months discharge. RESULTS: Children with apnea, cardiac arrest, reverse blood flow and skull fracture in clinic had a higher mortality rate even in the no-seizure group (3/5 [60%] vs. 3/45 [6.7%], odds ratio [OR] = 11; 95% CI = 2.3-52; p = 0.025). Seizure occurrence reduced mostly at the second day after admission in seizure groups; but children with persistent seizures for 1 week showed poor neurological outcomes. The occurrence of initial seizure was frequency associated with younger age; focal seizure, diffuse cortical dysfunction in acute-stage EEG, and low Glasgow Coma Scale (GCS) score were significantly related to poor outcomes after 6 months. Diffuse cortical dysfunction was also associated with motor, speech, and cognitive dysfunction. CONCLUSIONS: Diffuse cortical dysfunction in acute-stage EEG combined with low GCS score and focal seizure may related to poor outcomes and neurological dysfunctions in children with AHT.
RESUMO
Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment over time. In this article, we present three patients with EIDEE who experienced neonatal-onset seizures that developed into intractable seizures during infancy. Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p.Glu209Lys variant of the PACS2 gene. We conducted a literature review and found 29 cases to characterize the seizure patterns, neuroimaging features, the usage of anticonvulsants, and the clinical neurodevelopmental outcomes of PACS2-related EIDEE. The seizures were characterized by brief, recurring tonic seizures in the upper limbs, sometimes accompanied by autonomic features. Neuroimaging abnormalities were observed in the posterior fossa region, including mega cisterna magna, cerebellar dysplasia, and vermian hypoplasia. The long-term prognosis ranges from low-average intelligence to severe developmental retardation, emphasizing the importance of early recognition and accurate diagnosis by pediatric neurologists to provide personalized patient management.
RESUMO
Asthma is a common chronic respiratory disease in children.Adolescent asthma is characterized by high prevalence rate, high mortality and poor disease control.The optimal adolescent asthma management is crucial to improve asthma control, as well as reduce the burden of asthma including mortality.The key of the management in adolescents with asthma is the self-management, which involves individual, family and social aspects.The imbalance between physical development and psychological development in adolescents leads to many challenges in the self-management in adolescents with asthma.This review elaborates the current situation, influence factors and promotional strategies of self-management in adolescents with asthma so as to achieve the optimal asthma self-management.
RESUMO
Objective:To analyze the clinical characteristics of pulmonary vein stenosis (PVS) in children, and to explore its treatment and prognostic factors.Methods:The clinical data of 19 children with PVS treated in Beijing Children′s Hospital, Capital Medical University from October 2016 to March 2022 were analyzed retrospectively.There were 16 males and 3 females.The median age at diagnosis was (2.81±1.95) years.A descriptive analysis of clinical characteristics of children was made.Results:Of the 19 children, 14 cases (73.7%) had primary PVS and 5 cases (26.3%) had secondary PVS after surgery of anomalous pulmonary venous connection (APVC). Thirteen children (68.4%) had hemoptysis.In the hemoptysis children, 5 cases had life-threatening massive hemoptysis, and 11 cases (57.9%) had a history of recurrent respiratory tract infection or pneumonia.Other manifestations of hemoptysis included failure to thrive (6 cases), cyanosis (5 cases), and dyspnea (3 cases). Complications were pulmonary hypertension (6 cases) and right heart failure (3 cases). There were 16 cases (84.2%) of unilateral PVS and 3 cases of bilateral PVS.Interlobular septal thickening, grid shadow and ground glass opacities were found on CT of all PVS cases.Ten cases underwent surgery, and 2 cases of them received angioplasty, but restenosis occurred in both of them.Eight children underwent pulmonary lobectomy, and their clinical symptoms were all relieved after operation.Nine patients were treated conservatively, and 3 cases of them died of bilateral PVS secondary to APVC.The remaining 6 alive cases still had intermittent clinical symptoms during follow-up.Conclusions:Hemoptysis and recurrent respiratory tract infection are the main clinical manifestations of PVS in children, and life-threatening massive hemoptysis can occur.Lobectomy is an effective treatment for unilateral PVS.The prognosis of secondary PVS after APVC is poorer and its mortality is higher, compared with primary PVS.
RESUMO
Food allergy is one of the most common chronic non-infectious diseases in many countries and regions, which affects 2%-4% of children and adults.Its prevalence is on the rise worldwide.In 2022, the Global Allergy and Asthma European Network (GA 2LEN) proposed recommendations on managing food allergy to people at different age groups.This review aims to interpret the recommendations, clinical practice, precautions, evidence gaps and research priorities of food allergy management based on the GA 2LEN guideline 2022, thus providing reference for clinical management of food allergy.
RESUMO
As a common respiratory disease in children, asthma affects children′s physical and mental health and increases the burden on families and society.Patients with asthma can have one or more comorbidities, and these asthma comorbidities not only make the diagnosis of asthma more difficult, but also affect the control and treatment and outcome of the disease.However, asthma comorbidities are often under-recognized and poorly-managed.Therefore, it is important to improve the understanding of asthma comorbidities and to correctly identify, diagnose and treat them.Asthma in children contains a variety of comorbidities.This article reviews the research progress of epidemiology, impact on asthma and the treatment of these common comorbidities of asthma in children.
RESUMO
Bronchial asthma and anaphylaxis are two conditions related to the sensitization state of the body that can coexist with each other in children.Asthma is a common chronic respiratory disease in children, while anaphylaxis is a rapid onset emergency involving multiple systems of the body.The two diseases can affect each other.Poor asthma control can increase the risk of anaphylaxis, and there is a risk of misdiagnosis during symptom onset.Both diseases need prompt and appropriate acute treatment as well as long term management.This review summarizes the various associations and differences between asthma and anaphylaxis, as well as management tools and strategies, in order to provide reference for enhancing disease awareness and optimizing disease management.
RESUMO
Recently, the number of children with asthma reported after thunderstorm weather in China has increased rapidly, which has aroused the public concern.At present, there are 28 documented episodes of epidemic thunderstorm asthma in the world, which can be life-threatening in severe cases.Children with allergic rhinitis or uncontrolled asthma were more susceptible to thunderstorm asthma.This article introduces the epidemiology, mechanism, risk factors, manifestations, management strategies and prevention of thunderstorm asthma, in order to improve pediatricians′ understanding of thunderstorm asthma and reduce the impact of it.
RESUMO
Objective:To analyze the clinical characteristics, treatment course and prognosis of children with intermediate-high risk pulmonary embolism.Methods:The clinical data of 48 children with pulmonary embolism treated in Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2021 were analyzed retrospectively.Including 12 intermediate-high risk cases and 36 low-risk cases.The clinical manifestations, laboratory results, treatment and prognosis were compared between groups by the t-test, rank sum test and Chi- square test with the yates continuity correlation or Fisher′ s exact test. Results:There were no significant differences in the sex and age between the intermediate-high risk group and the low-risk group.The proportions of patients with shortness of breath, dyspnea, cyanosis or hypoxemia were higher in the intermediate-high risk group than those of in low-risk group.Twelve children in the low-risk group did not have specific symptoms of pulmonary embolism.There were no significant differences in the D-dimer level, and the distribution of pulmonary embolism between the two groups (all P>0.05). However, the proportion of children with other thromboembolism in the intermediate-high risk group was significantly higher than that of the low-risk group, among which heart thrombosis was the most common (7 cases). There were no significant differences in the underlying diseases and thrombophilia between the two groups (all P>0.05). The treatment of the intermediate-high risk group was more active: 6/12(50.00%) patients in the intermediate-high risk group received reperfusion treatment, including 3 cases of systemic thrombolysis, 1 case of catheter thrombolysis, and 2 cases of thrombectomy.In the low-risk group, only 1 case was treated with systematic thrombolysis.Unfavorable outcomes were reported in 3/48 (6.25%) patients, including 1 death of massive bleeding after catheter-directed thrombolysis in the acute phase, 1 case of recurrent pulmonary embolism after self-decided withdrawal and 1 case of progression of pulmonary embolism that was managed by surgical thrombectomy, all of whom were in the intermediate-high risk group. Conclusions:Shortness of breath, dyspnea, cyanosis or hypoxemia and co-existed venous thromboembolism were more common in intermediate-high risk cases.The treatment regimen of was more aggressive, but the incidence of unfavorable outcomes was higher in intermediate-high risk group; further research is needed to determine the risk factors for intermediate-high risk pulmonary embolism in children.
RESUMO
Anti-glutamic acid decarboxylase (anti-GAD) antibodies are associated with different types of syndromes. However, few studies have investigated the correlation between anti-GAD antibody titers with clinical severity and outcomes in children with encephalitis/encephalopathy. In this single-center retrospective cohort study, we consecutively enrolled hospitalized children who had encephalitis and/or encephalopathy with positive anti-GAD antibodies in serum and/or cerebrospinal fluid (CSF) from February 2010 to October 2021. Thirty-seven patients were included and divided into high-titer and low-titer groups. The patients with high anti-GAD antibody titers were associated with initial symptoms of language difficulty and ataxia. The level of titers was not associated with severity or outcomes. Anti-GAD antibody titers decreased after immunotherapy, however, the clinical response to immunotherapy was variable. A transient elevation in anti-GAD antibody titers during immunotherapy was noted. Further studies are warranted to investigate the role of anti-GAD antibodies in the pathogenesis and immune mechanisms of encephalitis/encephalopathy.
RESUMO
With the emergence of new respiratory virus, it is more apparent for the vulnerability of population to respiratory viral infection.Non-pharmaceutical interventions (NPIs) for respiratory virus infection have become the main way to prevent corona virus disease 2019.Some studies had proven its effectiveness.In addition, the NPIs also significantly reduced the incidence and hospitalization rate of other respiratory disease in children.NPIs for respiratory virus infection in children have its particularity and challenge.In daily life, it is important to guide children how to do the NPIs, so as to protect susceptible children and reduce the disease burden in children′s health system.Therefore, the aerosol transmission, the specificity of the NPIs in children, and the impact on childhood respiratory diseases are described in this article, to improve the prevention of common respiratory diseases in children.
RESUMO
Antipyretic-analgesics are currently one of the most prescribed drugs in children.The clinical application of antipyretic-analgesics for children in our country still have irrational phenomenon, which affects the therapeutic effect and even poses hidden dangers to the safety of children.In this paper, suggestions were put forward from the indications, dosage form/route, dosage suitability, pathophysiological characteristics of children with individual differences and drug interactions in the symptomatic treatment of febrile children, so as to provide reference for the general pharmacists when conducting prescription review.
RESUMO
Mucus plugs is a feature of fatal asthma, which is the abnormally thick mucus accumulated in the airway of patients.The study of airway mucus plugs in asthmatic patients began 100 years ago.In addition to the manifestation of primary disease, asthma patients with mucus plugs may have acute exacerbation of asthma or poor treatment effect.At this time, we should pay attention to the existence of mucus plugs.Multidetector computed tomography can be used to identify and evaluate mucus plugs.This article briefly describes the generation of airway mucus, and introduces the formation mechanism, clinical characteristics, identification and scoring system of mucus plugs in asthmatic patients, and reviews the differential diagnosis and treatment of mucus plugs.
RESUMO
Objective:To explore the effect of Bushen Huoxue Decoction on ventricular remodeling and myocardial nuclear factor-kappaB (NF-κB) protein in rats with chronic heart failure.Methods:60 male SD rats were randomly divided into sham operation group (15 rats) and experimental group (45 rats). The rats of the experimental group was established CHF model by ligating the left anterior descending coronary artery combined with exhaustive swimming and starvation. Rats with chronic heart failure were randomly divided into model group, Bushen Huoxue group and lisinopril group.The Bushen Huoxue group was perfused with 15.75 g/(kg·d) Bushen Huoxue Decoction, the lisinopril group was perfused with 1.8 mg/(kg·d) of lisinopril suspension, and the sham operation group and model group were perfused with equal volume of distilled water. After 4 weeks of administration, the general mental state of rats was observed. The left ventricular internal systolic diameter (LVIDs) and internal diastolic diameter (LVIDd) were measured by cardiac color Doppler ultrasound, and the left ventricular ejection fraction (LVEF) and short axis shortening fraction (LVFS) were calculated. The expression of NF-κB protein in rat myocardium was detected by Western blot, and the morphology of left ventricular myocytes was observed by hematoxylin eosin staining.Results:Compared with the model group, the myocardial fibers of rats in Bushen Huoxue group and lisinopril group were arranged orderly, with few pyknosis, a small amount of inflammatory cell infiltration. Compared with the model group, the levels of LVIDs [(6.00±0.58)mm vs. (6.99±0.90)mm] and LVIDd [(3.96±0.51)mm vs. (5.14±0.57)mm] significantly decreased, LVEF [(54.48±6.75)% vs. (30.28±4.85)%] and LVFS [(33.86±4.27)% vs. (26.10±4.96)%] significantly increased, as well as the expression of myocardial NF-κB (1.06±0.10 vs. 1.58±0.29) protein significantly decreased ( P<0.05). Conclusion:Bushen Huoxue Decoction can resist ventricular remodeling,improve cardiac function and treat heart failure of CHF rats and the possible mechanism might be it could down-regulate myocardial NF-κB expression.
RESUMO
Objective:To analyze the clinical manifestations, genetic variations, diagnosis and treatment of children with inherited thrombophilia(IT).Methods:Retrospective study.Children with IT treated in Department of Respiratory Diseases 1 of Beijing Children′s Hospital, Capital Medical University from October 2016 to August 2021 were included in the study and followed up.Results:A total of 5 children met the inclusion criteria, with 3 boys and 2 girls; the age of diagnosis ranged from 7 years to 13 years and 6 months.There were 2 cases of protein C deficiency, 1 case of congenital protein S deficiency, 1 case of activated protein C resistance and 1 case of congenital afibrinogenemia.All 5 cases had pulmonary embolism, 2 cases had deep venous thrombosis of lower limbs, and 1 case had cardiac thrombosis and arterial embolism.The level of protein C was significantly decreased in 1 case, and the level of protein S in 1 case was significantly decreased in the laboratory test of thrombophilia; 2 cases were positive for antiphospholipid antibodies in the acute phase, but negative after 3-6 months of re-examination.Genetic analysis showed 2 cases of PROC gene mutation, 1 case of PROSI gene mutation, 1 case of F5 gene mutation, and 1 case of FGA gene mutation.All children were treated with anticoagulation drugs for long-term, including 4 patients with Warfarin and 1 patient with Rivaroxaban.The follow-up time ranged from 3 months to 5 years.During the follow-up, 1 patient experienced thrombosis recurrence due to infection incentives 1 month after discontinuing anticoagulant drugs on his own. Conclusions:The clinical manifestations of children with IT are the same as those of adults, mainly including venous thromboembolism(VTE); there are limitations in laboratory detection of thrombophilia, and gene analysis is of great significance.Children diagnosed with IT need long-term anticoagulant therapy to reduce the recurrence of VTE.