Background Hepatic necrosis with coagulopathy (HNC) is one of the serious complications of neonatal enterovirus infection. Early recognition is difficult, the disease progresses rapidly, and the mortality rate is high.Objective To study the clinical features of neonatal enterovirus infections with HNC, and to provide a basis for early identification and active treatment of HNC.DesignA retrospective nested case-control study.Methods The neonates with enterovirus infection admitted to Children's Hospital of Fudan University from January 2010 to January 2020 were included. The clinical characteristics, treatment and prognosis were collected, and the clinical characteristics of the HNC group and the non-HNC group were compared,as well as the risk factors for the occurrence of HNC.Main outcome measures Incidence,mortality and risk factors of HNC.Results A total of 108 cases of neonatal enterovirus infections were included with 32 cases (29.6%) in the HNC group and 76 cases in the non-HNC group. The gestational age, birth weight, and age of onset of the HNC group were significantly lower than those of the non-HNC group (P＜0.05). The maternal history of illness in the HNC group was significantly higher than that in the non-HNC group (P＜0.001). The mortality of neonates in the HNC group was significantly higher than that of the non-HNC group (46.9% vs 2.6%, P＜0.001). Multivariate logistic regression analysis showed that the maternal history of illness (OR=7.04, 95%CI: 2.20-22.55) and age of onset (OR=0.903, 95%CI: 0.819-0.996) were independently associated with HNC. The peak AST level in the HNC death subgroup was significantly higher than that in the survival subgroup(P=0.016). The peak INR level in the HNC death subgroup was significantly higher than that in the survival subgroup(P=0.009). The proportion of complicated myocarditis in the HNC death subgroup was significantly higher than that in the survival subgroup (P=0.008). The use rate of plasma, albumin, mechanical ventilation and vasoactive drugs in the HNC death subgroup increased significantly.Among the 17 surviving children with HNC, 11 were followed up without a poor long-term prognosis such as dysaudia, blindness, epilepsy cerebral palsy and mental retardation.Conclusion In neonates with enterovirus infection, the incidence of HNC is higher. The maternal history of illness and earlier age of onset are significantly related to HNC. The mortality rate of neonates with HNC is high, especially those with severe hepatic necrosis and concurrent myocarditis, but the survival group usually has a good prognosis.
Background At present, the analysis of myositis specific antibody (MSA) and clinical phenotype in dermatomyositis or juvenile dermatomyositis (JDM) is affected by some confounding factors, including simple or complex antibodies and treatment.Objective To observe the relationship between MSA and clinical phenotype in JDM.DesignCase series report.Methods The diagnosis of JDM was based on Bohan/Peter criteria or 2017 EULAR/ACR criteria. We enrolled JDM patients who were listed in the JDM follow-up system of the rheumatology departments of Children's Hospital of Fudan University since 2011 and were detected by MSAs and MAAs with Euroline Autoimmune Inflammatory Myopathies 16Ag kit from March 2017 to April 2020. Clinical characteristics including clinical data, onset age, course of disease at diagnosis, follow-up course, body temperature, skin, bone and joint system, lung, liver, kidney, laboratory examination, macrophage activation syndrome(MAS), overlapping SLE and CMAS scores were collected from the HIS system and JDM follow-up system.Main outcome measures Clinical phenotypic characteristics of children with simple and combined anti-MDA5 antibody.Results A total of 103 patients with JDM who met the inclusion criteria of this study were included in the analysis with 54 males(52.4%). Sixty patients were detected with specific antibody spectrum before treatment after the diagnosis of JDM. The median CMAS score was 33 (23.0,44.7). The main clinical manifestations were fever, skin ulcer, skin calcification, arthralgia or arthritis, interstitial pneumonia, severe pneumonia, dysphagia, hematuria and IgA nephropathy, and MAS. Among 103 cases of JDM, 68 cases (66.0%) were myositis antibody positive, 64 cases were MSA positive, 24 cases were MAA positive and 20 cases were MSA and MAA positive. There were significant differences in age of onset and course of disease at first diagnosis among anti-MDA5 antibody positive group, anti-NXP2 antibody positive group, anti-TIF-1γ antibody positive group and all antibody negative antibody group. Younger onset age and longer course of disease at first diagnosis were seen in anti-TIF-1γ antibody positive group. Skin ulcer, arthritis / arthralgia, ILD and fever were more likely to occur in patients with anti-MDA5 antibody. The CMAS score, ALT, AST, LDH, HBDH, CK and Fer were significantly different among the four groups. Anti-NXP2 antibody positive patients have the lowest CMAS score and the highest CK, LDH and HBDH level. Anti-MDA5 antibody positive patients have the highest ALT, AST, Fer, but the lowest CK. Especially, Anti-TIF-1γ antibody positive patients have the lowest ALT, AST, LDH and Fer. Antibody negative group did not show significant characteristics in ALT, AST, CK, LDH or HBDH. Furthermore,HBDH and Fer were normal in initial group of anti-MAD5 alone group (n=9) while increasing significantly in initial group of combined anti-MDA5 group (n=10).Conclusion Anti-MDA5、 anti-NXP2 and anti-TIF-1γ antibody positive JDM present identifiable clinical phenotypes and laboratory test results.The untreated patients only with anti-MDA5 positive and with other positive antibodies are of differential significance. MSAs and MAAs negative JDM have no obvious clinical phenotypes and laboratory test results.
Background Menarche is an important sign for girls to enter the late stage of puberty, and it is also the last opportunity for girls' height intervention. As menarche is affected by many factors and has great individual differences, correcting understanding and mastering the growth pretention and characteristics of girls at menarche can provide reference for the final height evaluation and intervention of girls with different menarche age in clinical practice.Objective To analyze the age, bone age (BA) and physical development characteristics of girls at menarche to explore the clinical evaluation method of predicting final height (PAH) after menarche.DesignCross-sectional survey.Methods We retrospectively collected the data of girls with menarche time, physical measurement and X-ray of bone age who visited the Department of Growth and Development of Children's Hospital Affiliated to Capital Institute of Pediatrics from 2008 to 2018. We excluded the cases with the interval between menarche time and visit time longer than 3 months, with clear diseases affecting children's growth and development, with clear etiology causing secondary central precocious puberty or peripheral precocious puberty, and those previously treated by growth hormone or Gonadotropin-Releasing hormone inhibitors. According to the inclusion and exclusion criteria above, three professional pediatricians screened medical records in paper or in electronic forms, extracted and chose data, and finally entered all selected data into Epidata database by a single person. The chronological age, bone age, HtSDS, HtSDSBA, predicted final height (PAH) and predicted growth potential were calculated according to the pre-defined methods. The menarche age was divided by interval of 1 year, and the BA at menarche was divided by interval of 0.5 year.Main outcome measures BA at menarche, PAH and predicted growth potential.Results a. MA of 694 girls was 10.7±1.1 years and BA at menarche was 12.4±0.6 years. The average MA of different groups varied from 8.5 to 13.2 years, but the BA at menarche was stable, ranging from 12.4 to 12.8 years. b. The BA at menarche was closely related to their growth level. The youngest MA group had the most advanced BA and highest HtSDS. For example, the BA of 8-year-old MA group was 3.8±0.5 years advanced and their HtSDS was 2.60±1.32 while the BA of 13-year-old MA group was 0.7±0.7 years behind, and their HtSDS was -1.05±0.59. However, the average HtSDSBA of different MA groups ranged from -1.17 to -0.68, with few differences between groups. c. The PAH-Ht of girls after menarche was 7.3±2.6 cm which was highly negatively correlated with BA at menarche (r=-0.960, P<0.001). The average PAH-Ht of girls decreased from 12.7 cm to 4.0 cm when the BA at menarche increased from 11.0 to 13.0 years (F=1,194.393, P<0.001). d. According to the formula of PAH we derived from this study (R2=0.992), we can calculate the cut-off point of height at menarche in accordance with different PAH. When the BA at menarche is 12 years, for example, the height at menarche should be higher than 139.8 cm with PAH higher than 150 cm, and the height at menarche should be higher than 151.3 cm with PAH higher than 160 cm.Conclusion The BA of girls at menarche is relatively stable. BA is a reliable index to predict menstruation and evaluate the growth level of girls. For girls after menarche, BA can also accurately predict their growth potential.
Background Retinoblastoma(Rb) is a common malignant tumor in childhood. In developing countries where 90% of children with Rb are located, reducing deaths is still a challenge, and the quality of life of children has received little attention.Objective To summarize the efficacy, safety and quality of life of children with unilateral intraocular retinoblastoma, and provide evidence for optimizing the treatment plan and improving the safety and effectiveness of treatment.DesignRetrospective non-randomized controlled study.Methods To retrospectively analyze the clinical data of children with unilateral intraocular retinoblastoma admitted to Beijing Children's Hospital, Capital Medical University from November 6, 2009 to September 5, 2019. The last follow-up date was April 20, 2020. The chemotherapy program was the RB-2009 program of Beijing Children's Hospital, which was improved according to the Canadian multi-center RB 2003 program, and 810 nm and 532 nm laser, condenser and other technologies were used for local treatment. The eye-preservation rate, survival rate, cause of death, toxic and side effects, etc. were analyzed, and the Child Quality of Life Universal Scale and the Child Quality of Life Cancer Module Scale were used to conduct quality of life surveys for children older than 5 years of age.Main outcome measures Five year overall survival(OS) rate and life quality.Results A total of 6,262 cases of Rb were included and 168 patients were followed up for 8 to 125 months (median time 51 months). There were 1 case in stage B, 3 cases in stage C, 95 cases in stage D, and 69 cases in stage E and the total course of chemotherapy was 1 to 12 cycles(mean 4.2± 2.2 courses).Enucleation was performed in 89 (53.0%) with 42 cases in stage D and 47 in stage E. Among them, 30 cases (33.7%) were directly enucleated, and 59 cases (66.3%) were enucleated after chemotherapy. Seventy-nine cases (47.0%) were preserved with 53(55.79%) in stage D, and 22 (31.9%) in stage E. The 5-year expected OS of all children was 95.2%. The expected 5-year OS was 95.5% in children with eye enucleation and 94.9% in children with preservation treatment. The differences were not statistically significant(P=0.78). Five patients (3.0%) suffered from reversible grade Ⅰ hearing impairment, and no grade Ⅱ-Ⅳ hearing impairment occurred. All children developed bone marrow suppression, and 6 patients received platelet transfusion (3.6%), and no infection-related death occurred. Among 106 patients completing the quality of life survey, the score of children with enucleation was lower than that of children with eye preservation in questions about self-perception, society and role. The differences were statistically significant(P＜0.05).There were 8 deaths with 5 cases in stage D and 4 cases in stage E, 2 of which died after giving up treatment due to economic reasons, and 6 of which died of intracranial metastasis after relapse.Conclusion VEC (Vincristine, Etoposide and Carboplatin) regimen combined with systemic chemotherapy and local treatment is safe and effective for children with unilateral intraocular retinoblastoma. Intracranial metastasis remains the most common cause of Rb-related death. The results of a survey on the quality of life of children over 5 years of age show that the eye enucleation children have a reduced quality of life in terms of appearance, self-feeling, society and role.
Background Gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard for the diagnosis of central precocious puberty (CPP) at present, but multiple blood samples are needed. The truncation value of basic luteinizing hormone (LH) in diagnosing CPP varies greatly in different studies. The diagnostic prediction models of CPP that have been reported are either inconvenient to operate or unsatisfactory in their diagnostic performance.Objective To establish a predictive model which is convenient for clinical operation and has high diagnostic efficiency to assist the diagnosis of CPP in girls.DesignClinical data of girls with precocious puberty (PP) who completed the GnRH stimulation test were collected. Lasso regression analysis was used to screen the predictors of CPP, and Logistic regression was used to establish the prediction model.Methods Clinical data were collected from girls admitted to Fuzhou Children's Hospital of Fujian Medical University from January 2014 to April 2020 with PP who had undergone GnRH stimulation test and whose breast developed at the age of ≥4 to < 8. Through literature review and consultation with clinical experts in endocrinology, independent predictors were screened out preliminarily. After variable conversion, Lasso regression analysis was used to determine the final predictors. Logistic model was re-fitted to analyze its diagnostic performance and conduct internal validation.Main outcome measures The diagnostic efficacy of the model for CPP in girls.Results A total of 1,107 PP girls were included into the analysis, including 537 CPP and 570 non-CPP. Finally, five predictors were included-course of PP, breast Tanner stage, basic LH, bone age (BA), and uterine size-to establish a prediction model for CPP in girls: LN[P/(1-P)]=-5.508+1.579×basic LH("Middle")+2.861×basic LH("High")+1.191×uterine size+0.316×BA+0.371×course of PP("Middle")+0.430×course of PP("Long")+0.285×breast Tannar stage("B>2"). The AUC of the ROC of this model was 0.858. When the predicted cut-off point was 0.476, the Youden index was the highest, with sensitivity of 72.6% and specificity of 86.7%. When the prediction cut-off point was 0.75, the specificity and sensitivity were 95.1% and 50.5%. When the prediction cut-off point was 0.25, the sensitivity and specificity were 90.9% and 51.9%.Conclusion The diagnostic performance of the diagnostic prediction model for CPP in girls constructed in this paper is relatively satisfactory, and different diagnostic cut-off points can be used for clinical diagnosis or screening.
Background The treatment of children with relapsed, refractory acute lymphoblastic leukemia (ALL) is difficult and the prognosis is poor. Bortezomib combined with chemotherapy shows promising effect, but there are few reports in China at present.Objective To investigate the efficacy and safety of bortezomib combined with chemotherapy in the treatment of children with relapsed, refractory or high-risk ALL.DesignCase series report.Methods Eleven children with relapsed, refractory or high-risk ALL who were treated with bortezomib combined with chemotherapy in the Department of Pediatrics, Peking University People's Hospital from September 2017 to September 2019 were included. Their clinical characteristics, laboratory examinations, treatment and prognosis were analyzed.Main outcome measures Overall response rate (ORR), 2-year event-free survival (EFS), overall survival (OS) and adverse events.Results Eleven children were included into the analysis, including 9 males and 2 females, with a median age of 10 (3-15) years old. We evaluated bortezomib in combination with chemotherapy in 7 cases of T-ALL, 2 cases of T lymphoblastic lymphoma stage IV, 2 cases of B-ALL. Among these patients, there were 2 cases of relapse, 4 cases of refractory and 5 cases of high-risk disease. After one course, 8 cases showed response, with an ORR of 72.7%, including B-ALL 50% (1/2) and T-ALL 77.8% (7/9). Before treatment, there were 3 cases of bone marrow non-remission and 4 cases of partial remission, and the complete remission (CR) rate was 85.7% (6/7). Before treatment, 10 cases were positive for bone marrow minimal residual disease (MRD), and all decreased after treatment, of which one case turned negative. The main adverse events were myelosuppression, infection, gastrointestinal disorder and abnormal liver function associated with combination chemotherapy. Nine cases were subsequently treated with allogeneic hematopoietic stem cell transplantation, seven of which survived without disease and two of which died of relapse after transplantation. Two cases continued chemotherapy and both died at the last follow-up. The median follow-up time was 15 (2-29) months, the 2-year EFS was 45.5±15%, and OS was 63.6±14.5%.Conclusion Bortezomib combined with chemotherapy is an effective and well-tolerated treatment option for relapsed, refractory or high-risk children with ALL.
Background Omalizumab is effective in treating moderate to severe allergic asthma in children over 6 years old abroad, and there is a lack of clinical data of asthmatic children in China.Objective To evaluate the efficacy and safety of omalizumab in the treatment of children with allergic asthma and allergic rhinitis.DesignSelf-controlled trial.Methods We included those aged 6-18 years with moderate to severe allergic asthma and allergic rhinitis, who can afford 16 weeks of treatment and were in the non acute stage of asthma, whose serum IgE were 75-1,500 U·mL-1 before using omalizumab, and whose vital signs were stable. Inhaled corticosteroids combined with omalizumab was performed to observe asthma control, rhinitis and cough symptoms, and quality of life of asthmatic children, quality of life of asthmatic children lung function, height and weight gain. Outcome measures were evaluated before and 16 weeks after treatment.The main outcome measures Children aged 4 to 11 years old were scored by C-ACT. Children aged ≥12 years old were scored by ACT. The C-ACT/ACT score increasing by more than 3 points before and after treatment was defined as effective treatment.Results Thirty-five cases of moderate and severe allergic asthma with allergic rhinitis were included into the analysis. The weight was (31±9.6) kg and height was (134.8±13.8) cm. A total of 32 cases could use level 3 and 4 treatment plan, and there were 3 cases for level 5 treatment plan . The average IgE level was 340 (168~583) IU·mL-1. The C-ACT/ACT score, rhinitis and cough VAS score, PAQLQ/pedsQLTM3.0 asthma module evaluation were improved after 4 weeks of treatment with omalizumab, and the differences were statistically significant (P<0.05). The C-ACT/ACT score were improved by more than 3 points after 16 weeks of treatment, and the rhinitis and cough VAS score, PAQLQ/pedsQLTM3.0 asthma module evaluation were further improved after 4 weeks of treatment. After 16 weeks, the lung function and FeNO evaluation indexes were significantly improved compared with those before treatment (P<0.05). During the treatment, one patient developed pruritus at the injection site.Conclusion Inhaled corticosteroids combined with omalizumab in the treatment of children with moderate to severe allergic asthma and allergic rhinitis showed good effect and safety, and improved the clinical symptoms during medication.
Background There's a scare of evidence in association between air pollution exposure and lipid metabolism in Chinese children and adolescents.Objective To explore the association between ambient air pollution exposure and blood lipids metabolism of children and adolescents.DesignCross-sectional study.Methods Students aged 7-18 years were recruited from 4 Shanghai primary, middle and high schools in a cross-sectional study whose fasting blood samples were collected during 2014. Informed consents for participating in the study and blood collection were got from guardians. Serum HDLC, LDLC, TG and TC were examined and dyslipidemia was defined as occurrence of abnormality in any one of them (HDLC≤1.04 mmol·L-1,LDLC≥3.37 mmol·L-1,TG≥1.70 mmol·L-1 or TC≥5.18 mmol·L-1). With home address provided by the participants and a spatio-temporal model of air pollution, daily average concentrations of PM2.5, O3 and NO2 in the latest 1, 3 and 6 months before blood collection at the participants' home addresses were measured. With linear regression and logistic regression, associations of home exposure to individual air pollutants at different durations with lipids' concentration and risk of dyslipidemia were examined. On the basis of multiple adjustment, pollutants were further mutually adjusted to check independence of association between pollutants exposure and lipids metabolism.Main outcome measures Air pollution exposure of children based on their home location, fasting venous serum lipid profile and dyslipidemia.Results A total of 1,317 students were included in this analysis with 660 girls(50.1%). Mean(SD) concentrations of HDLC, LDLC and TC were (1.52±0.29)mmol·L-1, (2.35±0.63) mmol·L-1 and (4.03±0.72) mmol·L-1, while median (1st quartile, 3rd quartile) concentration of TG was 0.59(0.43,0.80) mmol·L-1, and 142(10.8%) students were identified to have dyslipidemia. Daily concentrations of PM2.5, O3 and NO2 in the past 1, 3 and 6 months varied at ranges of 51.4~61.5, 20.4~22.8 and 11.1~12.8 μg·m-3. With every IQR increase of PM2.5 concentration in the latest 3 and 6 months, HDLC decreased by 0.07(95%CI:0.03~0.11)mmol·L-1 and 0.09(95%CI:0.05~0.14)mmol·L-1, and OR(95%CI) for risk of dyslipidemia was 1.86(95%CI:1.42~2.44) with each IQR increase of PM2.5 in the latest 6 months. These associations remained significant after adjusting for exposure of other pollutants, but no independently significant associations of other serum lipids and ambient air pollution exposure were found.Conclusion This study found a significant association of PM2.5 exposure with adverse lipid profiles in children and adolescents.
Backgrounds Anomalous origin of a coronary artery from the opposite sinus of Valsalva (ACAOS) is a very rare coronary artery malformation. If it occurs during adolescence, it will cause very serious consequences, such as angina pectoris, myocardial infarction and even sudden cardiac death (SCD). The main imaging examination methods for the diagnosis of ACAOS include multi-detector row computed tomographic (MDCT) and coronary angiography (CAG). However, transthoracic echocardiography (TTE) has rarely been reported in the diagnosis of ACAOS.Objective To explore echocardiographic characters of adolescent ACAOS patients and announcements for scanning, and to improve the understanding for this disease, the detection rate and the diagnostic accuracy of TTE.DesignBy retrospectively analyzing the results of TTE in adolescent ACAOS patients diagnosed by multiple examination methods or surgery, the echocardiographic features and scanning points were summarized.Methods Between April 2016 and September 2019, 9 hospitalized patients with ACAOS were retrospectively reviewed at the Pediatric Cardiovascular Center, Beijing Anzhen Hospital. All patients were confirmed by multiple imagings and/or surgical procedures.Main Outcome MeasuresThe echocardiographic characters of ACAOS.Results Among 9 patients with ACAOS, 6 patients were ALCAOS and 3 patients were ARCAOS. All patients had related clinical symptoms after strenuous exercise, including chest congestion, chest pain, syncope and even sudden death. Seven patients underwent surgical operations and 2 patients underwent regular outpatient reexamination.The echocardiographic characters of ACAOS include a.The origin of ectopic coronary artery was slightly higher than the normal origin, and the origin of ectopic coronary artery could be clearly shown in the left high parasternal short axis view. b.The inlet and outlet of coronary artery was not consistent for intramural coronary artery. c.The wall of the aorta with intramural coronary artery was displayed as a "double-border". d.Color Doppler flow imaging could display the linear diastolic blood flow signals of the coronary artery and intramural coronary artery running between the aorta and the root of the pulmonary artery. e.Spectral Doppler could measure the velocity of abnormal blood flow in coronary artery and determine the time phase of abnormal blood flow.Conclusion TTE is the preferred imaging method for screening and diagnosis of ACAOS. In the diagnosis process, the clinical manifestations of patients should be closely combined, especially for adolescents who have chest congestion, chest pain, syncope and sudden death after exercise. TTE is crucial to improve the detection rate of this disease.
Background Kabuki syndrome (KS) is a rare multi-deformities syndrome with major clinical manifestations such as facial abnormalities, skeletal abnormalities and mental retardation. Seventy-five percent of KS is caused by KMT2D gene pathogenic variation. According to current diagnostic criteria of KS, it is difficult to make diagnosis of KS in the neonatal period of patients.Objective To propose the genetic screening indications of KS in neonatal period caused by KMT2D gene mutation.DesignCase series report.Methods We extracted clinical characteristics from patients, who were diagnosed with KS caused by KMT2D gene pathogenic variation in Children's Hospital of Fudan University and relevant literature reported from 2010 to 2020.Main outcome measures Mutation sites of KMT2D gene and clinical characteristics of patients in neonatal period.Results According to 455 cases of KS newborns caused by KMT2D gene mutation (14 cases from CHFU, 441 cases from literature), the neonatal genetic screening indications included dystonia, skeletal abnormalities, feeding difficulties, cardiac abnormalities, hypoglycemia and hearing abnormalities.Conclusion The phenotypic spectrum of children with KS caused by KMT2D mutation is different between neonates and children, and genetic screening indications of neonates should be established.
Objective To report and summarize the clinical and immune features of two patients with CARD11 mutations, which are not located in CARD domain or CC domain of the gene.Methods Two atypical CARD11 mutation patients were enrolled, and their clinical and immune features were summarized. The mutations were tested by whole exon sequencing and confirmed by Sanger sequencing. Flow cytometry was used to figure out the immune phenotypes, while in vitro experiments were performed to detect the pathogenicity and pathogenic mechanism of the mutations.Results The two patients had recurrent respiratory infection and allergic diseases. Patient 1 (P1) presented with recurrent tonsillitis, bronchopneumonia, allergic rhinitis and occasional abdominal pain or joint pain together with fever. Patient 2 (P2) presented with recurrent upper respiratory infection,occasional atopic dermatitis and allergic conjunctivitis. Both of the two patients had heterozygous mutation in the gene of CARD11 . The mutation sites were c.2542C>T (p.R848C)for P1 and c.2036A>T(p.Q679L)for P2. c.2542C>T was reported in 2019 and c.2036A>T had not been reported before. The two mutant CARD11 proteins showed less stimulation of the NF-κB signal pathway compared with WT CARD11 protein when overexpressed in 293T cells, which indicates that the mutations would lead to loss of function(LOF).Conclusion The characteristics of this novel CARD11 mutation are different from those of mutations in typical sites, which enriches the clinical and immune features of CARD11 deficiency.
Background Shwachman-Diamond syndrome (SDS) is a rare immunodeficiency disorder characterized by bone marrow failure, pancreatic exocrine insufficiency, and skeletal abnormalities. About 90% of SDS patients had SBDS gene mutations. In addition, EFL1, DNAJC21 and SRP54 mutations had also been described in patients withSDS-like syndrome. It had been reported that there was no significant correlation between SBDS genotype and blood phenotype.Objective To summarize the clinical characteristics of patients with SDS, and to analyze genotype-phenotype correlation.DesignCase series report.Methods Patients with SDS treated in the Department of Clinical Immunology, Children's Hospital of Fudan University from January 2016 to November 2020 were enrolled. The clinical manifestations, immunophenotype and gene analysis were summarized.Main outcome measures Clinical indicators of patients with different genotypes (infection, neutrophil counts, prognosis, etc).Results A total of 8 patients(3 males and 5 females) with confirmed SDS were included. The median age of onset was 2.2 months and the median age at diagnosis was 8.5 months. Whole-exome sequencing (WES) showed that 5 cases had SBDS c.183_184TA>CT/c.258+2T>C compound heterozygous mutations, who were first presented with infections accompanied by neutropenia, including recurrent respiratory tract infections, septic and soft tissue infections; 2 cases had SBDS c.258+2T>C homozygous mutations who both had mild infection, among whom 1 patient was complicated with neutropenia; 1 case had SRP54 mutation (c.349_351del, p. T117del) with main manifestations of recurrent skin abscess, severe pneumonia and sepsis accompanied by neutropenia.The bone marrow cytology showed that neutrophil lineage and maturation arrested at the promyelocyte stage.Conclusion Some patients with SDS may present with infection and neutropenia as the first symptoms. Systematic assessment of the immunophenotype and genotype should be performed to achieve a definite diagnosis.
Background Gaucher Disease (GD) is a rare disease with abnormal immune function, which is often associated with different pathogenic infections. The clinical features of infections in different types of Gaucher disease are worthy of attention.Objective To explore the difference of susceptibility and infection severity in different types of Gaucher disease.DesignCase series report.Methods The occurrence of recurrent respiratory infections, pneumonia, severe pneumonia, live attenuated vaccination and related infections, and peripheral blood counts were collected from children with different types of Gaucher disease. Telephone follow-up was done to judge the prognosis (whether death occurred and its causes).Main outcome measures Recurrent respiratory infection, severe pneumonia, and infections after vaccination.Results From May 2013 to December 2019, 16 patients with Gaucher disease were diagnosed in Children's Hospital of Chongqing Medical University, including 7 males and 9 females. Four cases were classified as type 1, 8 cases as type 2 and 4 cases as type 3. There are 4 cases of recurrent respiratory infection with GD2 type. One GD2 type case suffered from lymph node tuberculosis after BCG vaccination. Three cases lost to follow-up, and 8 of the 13 follow-up patients died. Among the 8 dead patients, 7 patients were GD2 type, 4 of which died of respiratory tract infection and 3 of which died of nervous system disease, and the remaining one case was GD1 type who died of heart disease.Conclusion There are differences in the susceptibility and infection severity among different types of Gaucher disease. Children with type 2 Gaucher disease are at risk of tuberculosis infection after BCG vaccination.
Objective To improve the clinical understanding of children's pneumophagia.Methods The children aged 1 to 18 years, diagnosed with aerophagia and followed up in Gastroenterology Department of Guangzhou Women and Children's Medical Center from June 2017 to May 2020 were included. The clinical data and follow-up records of the patients were collected from the medical record system.Results There were 51 males and 27 females, aged from 1.4 to 12 years old. Among them,13 cases (16.7%) were below 4 years old. The course of disease ranged from 2 to 24 months. The clinical manifestations mainly included decreased appetite, abdominal pain, hiccup, constipation, nausea, vomiting and diarrhea. There were 6 cases complicated with tic disorder, 2 cases complicated with autism and 1 case complicated with cerebral palsy. Fifty-four cases had suspected causes, mainly including acute gastroenteritis, allergic rhinitis, respiratory tract infection, mental stress and after surgery. Abdominal distension was the main complaint of 78 patients. During the treatment, air swallowing was observed. Abdominal distension was characterized as "mild in the morning and severe in the evening". Abdominal X-ray and gastroenteroscopy showed no abnormity. After treatment, 64 cases were cured, 8 cases had recurrent symptoms and 6 cases had poor curative effect.Conclusion Aerophagia can occur in children of any ages. The main manifestations were abdominal distension, gas swallowing and anal exhaust increase. Most of the children were cured after treatment.
