Background: While the incidence of malignant tumor-associated interstitial lung disease (MT-ILD) is low, the median survival rate at 6 months is only 58.1% and few studies on MT-ILD in children (MT-chILD) has been previously reported.
Objective: To explore clinical features, imaging, pathological features, disease burden and prognosis of MT-chILD, thus providing clinical evidence for early identification, diagnosis and treatment of the MT-chILD.
Design: Retrospective cohort study.
Methods: Cases of MT-chILD diagnosed by the MDT team in Children's Hospital of Fudan University from February 2014 to February 2021 were retrospectively included. Clinical manifestations, imaging, pathology, treatment, disease burden and follow-up information were collected.
Main outcome measures: Factors affecting the 5-year survival of MT-chILD.
Results: Fifteen cases were firstly diagnosed in our respiratory department with the following symptoms: cough or shortness of breath (13 cases), fever (9 cases), hemoptysis (4 cases), chest pain or chest tightness (4 cases), fatigue(1 case), abdominal pain(1 case), and diarrhea(1 case). There were 9 cases with normal tumor markers. Lung images showed diffuse nodules, cystic shadows in both lungs, exudation in both lungs with multi-window cord shadows, and uneven brightness of both lungs with ground-glass opacity. The basic pathological classification of MT-chILD were 5 cases of Langerhans histiocytosis (LCH), 4 cases of neuroblastoma, and 1 case of pulmonary mucinous adenocarcinoma, pulmonary papillary adenocarcinoma, T lymphoblastoma, rhabdomyosarcoma, pulmonary fibroblastoma or acinar soft tissue sarcoma, respectively. The median time from onset to diagnosis of MT-chILD was 6.9 months, with 9 cases(60%) misdiagnosed as infections. The average hospitalization cost was RMB 70,000. While 10 cases received chemotherapy after diagnosis, 5 patients gave up treatment. The median survival time after diagnosis was 14 months. There were several independent risk factors affecting the 5-year survival rate of MT-chILD: treatment abandonment (OR=1.754, 95%CI: 1.535~2.519), malnutrition (OR=1.231, 95%CI: 1.020~1.428), combined with fungal infection (OR=1.232, 95%CI: 1.018~1.492), combined with mediastinal emphysema (OR=1.298, 95%CI: 1.002~1.681), combined with sepsis (OR=1251, 95%CI: 1.035~1.787). Chemotherapy (OR=0.658, 95%CI: 0.525~0.993) was a protective factor for 5-year survival of MT-chILD.
Conclusion: The onset of MT-chILD presents atypical respiratory symptoms and signs, non-specific laboratory indicators, leading to high misdiagnosis rates and high medical costs. Lung imaging and biopsy pathology are important for the final diagnosis. Active treatment without giving up, receiving chemotherapy and preventing complications are beneficial to long-term survival.
Objective: To compare the reliability and validity of the CRIES scale, PIPP scale and N-PASS scale for neonatal postoperative pain assessment and then find the most reliable and valid postoperative pain assessment scale for neonates. Methods: The convenience sampling method was adopted to select 67 newborns who had been operated in a third-grade A children's hospital in Chongqing from August 2019 to January 2020 as the research objects. Data were collected through general information questionnaire and bedside video recording. Three scales were used to evaluate the pain of each patient for a total of 2,412 times at 1, 2, 4, 8, 12 and 24 hours after surgery. The reliability and validity of three scales were evaluated by correlation analysis, reliability analysis, principal component analysis and exploratory factor analysis. Results: The Cronbach's alpha coefficients of CRIES, PIPP, and N-PASS were 0.906, 0.769, and 0.915 respectively. The test-retest reliability was 0.917, 0.753 and 0.919, respectively. Criterion validity was 0.887,0.874 and 0.920, respectively. Exploratory factor analysis extracted 1, 2 and 2 components, and the cumulative variance contribution rate was 72.717%, 71.133% and 87.252%, respectively. Conclusion: The reliability and validity of the N-PASS scale was higher than that of the CRIES scale and PIPP scale, which was more suitable for the assessment of neonatal postoperative pain.
Background: Pulmonary atresia with intact ventricular septum (PA/IVS) and critical pulmonary stenosis (CPS) are rare congenital heart diseases. It is vital for cardiologists and pregnant women to perform detailed echocardiography evaluation in order to predict postnatal cardiac conditions.
Objective: This study is to classify and evaluate the fetal, neonatal and postoperative cases with PA/IVS or CPS.
Design: Case series report.
Methods: Medical records of the fetal, neonatal and postoperative cases diagnosed with PA/IVS or CPS by echocardiograghy were retrospectively analyzed, and the echocardiographic characteristics of fetal, neonatal cases and follow-up after treatment were compared.
Main outcome measures: The progress and correlation of the growth of right ventricle and pulmonary valve opening during fetal, neonatal stages and follow-up after treatment.
Results: Of the 100 fetuses with PA/IVS or CPS, the number of typeⅠ, type Ⅱ and type Ⅲ was 69, 19, and 12 respectively. Type Ⅰ and type Ⅱ had moderate to severe tricuspid regurgitation (TR), while type Ⅲ had no TR. Type Ⅲ cases were all PA/IVS, in which seven fetuses had ventriculocoronary connection. Eleven fetuses with PA/IVS showed obvious pulmonary aterary dysplasia. Of the 23 fetuses treated after birth, there were 15 for PA/IVS, 8 for CPS, 21 for typeⅠand 2 for type Ⅱ. Two patients developed from moderate and severe PS in the fetus to PA/IVS at birth, respectively. The ratio of right to left ventricular length (RV/LV) was lower in neonatal period than that in fetal period. Moderate-severe TR were 22 in both fetal and neonatal stages. After hybrid therapy, one patient with PA/IVS died 7 days after operation, and 22 patients were followed up in the out-patient setting. TV Z-score, TV/MV and RV/LV increased significantly compared with that of pre-operation, and moderate to severe TR decreased from 22 cases to 1 case after operation and follow-up.
Conclusion: Fetuses with PA/IVS and CPS can be classified and evaluated by echocardiography. The degree of TR is mild, while right ventricular dysplasia is more serious. During the prenatal period, part of moderate to severe PS can progress to PA/IVS, and the degree of right ventricular dysplasia is aggravated.
Background: Sitting height and leg length are the useful indicators for the linear growth evaluation of children and adolescents, but the growth reference standards of the two indicators have not been reported.
Objective: To study and formulate the growth reference of sitting height and leg length of Chinese children and adolescents aged 0-18 years.
Design: A cross-sectional survey.
Methods: Stature and sitting height of 92,494 healthy urban children aged 0-18 years were measured in two national surveys in 2005 in China—The National Survey on the Physical Growth and Development of Children in the Nine Cities of China (NSPGDC) and The Chinese National Survey on Students' Constitution and Health (CNSSCH). Leg length was calculated by height minus sitting height. Growth reference standards of sitting height and leg length were constructed using the LMS method.
Main outcome measures: Reference values of sitting height and leg length.
Results: The percentile and the Z-scores reference values of sitting height and leg length for Chinese boys and girls aged 0-18 years were shown and their growth charts were drawn. Sitting height increased about 14 cm, 6 cm and 4 cm during the first, second and third year after birth, respectively. After that, the annual increment of sitting height is nearly 2-3 cm. Then the increments became slightly higher at 11-13 years for boys and 9-11 years for girls and gradually became smaller and smaller. Sitting height nearly stopped increasing at the age of 17 years for boys and 15 years for girls. Leg length increased respectively about 11-12 cm and 6.5 cm during the first and second year after birth, then the annual increment was 4-5 cm during 2-5 years, and leg length stopped increasing nearly at 15 years for boys and 13 years for girls.
Conclusion: The growth reference standards of sitting height and leg length were formulated, which provide more data and reference for perfecting the growth evaluation system of children and adolescents in China.
Background: Sepsis，characterized by rapid progression and high mortality, is a common critical disease in PICU. It remains controversial whether the combination of routine supportive therapy and continuous blood purification (CBP) can improve the prognosis of children with septic shock.
Objective: To observe the effect of CBP on the prognosis and fluid overload in sepsis shock children.
Design: Non-randomized controlled study.
Methods: Septic shock children at the age of one month to 14 years, admitted to PICU at HeBei Children's Hospital from May 2015 to May 2020, were enrolled. A total of 95 children were included into analysis with 64 in CBP group and 30 in non-CBP group. CVVH or CVVHDF mode was applied with fluid displacement rate of 30~50 mL·kg-1·h-1. The following indicators were compared—7-day and 30-day survival rate, fluid overload ration of CBP at 72 h, vasoactive agent score, heart rate, P/F value, amount of lymphocytes and their subtypes, IL-6, PCT and duration of hospital stay.
Main outcome measures: 7-day survival rate.
Results: CBP group included 64 cases with 44 cases in 0~24 h subgroup and 20 cases in 24~48 h subgroup, and non-CBP included 30 cases. There was no statistical difference in age, male percentage, PRISM Ⅲ score, ratio of invasive mechanical ventilation, as well as vasoactive agent score, heart rate, P/F value, amount of lymphocytes and their subtypes, IL-6 and PCT. The survival rates of 7-day and 30-day in CBP group (82.8%, 78.1%) were higher than those of non-CBP group (70.0%,60.0%) with P value of 0.022 and 0.038 respectively. The fluid overload ratio at 72 h was 31.2% in CBP group, lower than 63.3% in non-CBP group (P=0.003). The amount of lymphocytes and their subtype at 72 h in CBP group was higher than that of non-CBP group, with statistical differences. There were no statistical differences in vasoactive agent score, heart rate, P/F value, IL-6 and PCT between CBP group and non-CBP group. At 72 h, fluid overload ratio（P=0043）and IL-6 level（P=0.007）were lower, and the amount of lymphocytes and their subtypes was higher in 0~24 h subgroup with statistical differences.
Conclusion: CBP is superior in elevating survival rate, keeping fluid balance, decreasing use of vasoactive agent, relieving immune inhibition in septic shock children, and the early use of CBP has significant efficacy.
Background: Hypothermia treatment is now effective treatment for hypoxic ischemic encephalopathy (HIE). Currently, there is still no consensus on enteral nutrition to infants with HIE during therapeutic hypothermia at home and abroad.
Objective: To study the safety of enteral nutrition during hypothermia treatment for HIE in neonates.
Design: Retrospective non-randomized controlled study.
Methods: Neonates with HIE undergoing hypothermia at the Department of neonatology, Children's Hospital of Chongqing Medical University between January 2019 to June 2020 were included in the study. According to whether patients received enteral nutrition during hypothermia treatment, they were divided into enteral nutrition (EN) group and unfed group. Data of general conditions, clinical manifestations, laboratory examinations, diagnosis, treatment, age of starting feeds, type, volume, and mode of enteral nutrition were collected.
Main outcome measures: Incidence of neonatal necrotizing enterocolitis (NEC) during hospitalization.
Results: A total of 95 patients with HIE were included in the analysis, including 51 patients in the EN group and 44 patients in the unfed group. Patients in the EN group had lower incidence of abdominal distension than the unfed group (P=0.047) and there were no significant differences in the incidence of vomiting, bloody stools, and convulsion between the two groups. No statistically significant differences were found in blood gas analysis measured within an hour of birth, first blood routine test after admission, intracranial hemorrhage in brain sonography, and abnormalities in cranial magnetic resonance between the two groups. Patients in the EN group had a shorter mean length of parenteral nutrition and hospital stay compared with the unfed group (P<0.001). There were no significant differences between the two groups regarding complications such as NEC and feeding intolerance. In the EN group, 60.8% received formula and 41.1% were fed on day 1 of life. The mean total volume was 19.1 mL·kg-1 over a 24 hour period and 68.6% did not increase feeds during hypothermia treatment. One patient developed NEC (I), and improved after conservative medical therapy. No deaths occurred.
Conclusion: Early minimal enteral nutrition during hypothermia was associated with lower incidence of abdominal distension, a shorter mean length of parenteral nutrition and hospital stay, but did not increase incidence of NEC.
Background: In clinical practice, food protein-induced proctocolitis (FPIPC) might still be misdiagnosed as neonatal necrotizing enterocolitis (NEC) for neonates with bloody stool and abdominal distension and positive portal vein gas (PVG) by abdominal ultrasound.
Objective: To compare the clinical data and abdominal ultrasound examination results of NEC and FPIPC and to analyze the related factors of NEC.
Design: Case-control study.
Methods: Newborns with PVG positive by abdominal ultrasound were included from the inpatient settings of Children's Hospital of Chongqing Medical University from January 1, 2019 to December 31, 2019. According to the first diagnosis at discharge, they were divided into NEC group and FPIPC group. The general information, clinical manifestations and signs, the results of laboratory examination and abdominal ultrasound reports of the children were collected from the electronic medical records and the factors with statistical significance and clinical value were screened out for Logistic regression analysis.
Main outcome measures: Factors associated with the diagnosis of NEC in neonates with positive PVG on abdominal ultrasound.
Results: There were 68 cases in NEC group and 42 cases in FPIPC group. The gestational age, birth weight and the age and weight at the admission in the NEC group were lower than those in the FPIPC group. The percentage of abdominal distention, low reaction and reduced bowel tone, neutrophils proportion, and the percentage of elevated CRP and abnormal PCT in NEC group were higher than those in FPIPC group. The percentage of diarrhea in FPIPC group was higher than that in NEC group(P<0.05). Abdominal ultrasound examination showed the proportion of intestinal peristalsis and peritoneal effusion in NEC group was higher than that in FPIPC group (P<0.05).There was no significant difference in the age of PVG detection between the two groups. There was no significant difference in the proportion of PVG that did not disappear within 3 days after abdominal ultrasound re-examination (67 cases in NEC group and 37 cases in FPIPC group) between the two groups. Logistic regression showed that decreased abdominal bowel sounds (OR=14.7, 95%CI: 2.6~82.2, P=0.002), CRP>10 mg·L-1 (OR=24.7, 95%CI:1.4~431.7, P=0.028) and slower intestinal peristalsis(OR=26.9, 95%CI: 1.853~389.9, P=0.016) were associated with NEC.
Conclusion: When abdominal ultrasound on neonates showed positive PVG, gestational age, birth weight, clinical manifestations, inflammation, abdominal ultrasound characteristics should be combined to make differentiate diagnosis. NEC should be paid attention when there were weakened abdominal bowel sounds, elevated CRP increases, and slower bowel movements by abdominal ultrasound.
Background: Adolescence is an important period of brain maturation and development, and adolescents with autism spectrum disorder (ASD) have atypical brain activation and functional connectivity in prefrontal and temporal cortex, which may be related to the symptom severity.
Objective: To examine the correlation between the development trajectories of the topological properties of the brain network and age, cognition and symptom severity in individuals with ASD via graph theory analysis.
Design: Case series report.
Methods: Children and adolescents with ASD who met the DSM-IV-TR/DSM-V/ICD-10/ICD-11 diagnostic criteria, and were confirmed by ADOS-G and ADI-R assessment were included. Inclusion criteria were as follows: age between 6 to 17 years old, first language being Mandarin Chinese, right-handed, and full-scale IQ (FSIQ)≥70. The 8-minute resting-state signals were collected by a continuous functional near-infared spectroscopy (fNIRS) device, measuring the concentration change of oxy-, deoxy- and total hemoglobin (HBO, HBR, HbT). The generalized linear model was applied to analyze the relationship between network properties and age. After the effect of age was controlled, partial correlation analyses were used to evaluate the brain-behavior relationships.
Main outcome measures: The topological properties of the brain network, including global efficiency, local efficiency, betweenness centrality and degree.
Results: A total of 44 children and adolescents with ASD (age 9.5±1.5 years, 40 males and 4 females) were enrolled. Regression analysis showed that the global efficiency of HBO data decreased with age (R2=0.233, P=0.026), while the local efficiency remained stable (R2=0.002, P>0.05). The betweenness centrality and degree of the right superior temporal gyrus and inferior frontal gyrus were decreased (channel 3, 4), while those of left middle and superior frontal gyrus were increased (channel 30, 40, 48). The topological properties of brain regions showed that significant age effects were related to the cognitive ability, while the core symptoms of ASD were related to the nodal metrics of brain regions that showed nonsignificant development.
Conclusion: Results suggested a decreased functional integration and similar segregation development of brain network in ASD from childhood to adolescence. Current research also implied that the development of prefrontal network may be only related to the development of cognition ability of participants with ASD.
Background: Timely diagnosis of Kawasaki disease (KD) still posed a big challenge especially for those presenting atypical forms.
Objective: To analyze the risk factors for delayed diagnosis of KD.
Design: Case-control study.
Methods: KD diagnostic criteria of Kawasaki Disease Research Committee of Japan (5th Edition, 2005) were adopted. KD can be diagnosed if more than 5 of the 6 main diagnostic criteria are met. KD inpatients were enrolled from Children's Hospital of Zhejiang University Medical College from January 2009 to Decemeber 2014. Patients diagnosed with KD more than 10 days after onset were included in the delayed diagnosis group, otherwise they were included in the non-delayed diagnosis group. The demographic features, clinical manifestations, total fever duration, the first laboratory examination results, and the first routine blood test after IVIG treatment were collected. Risk factors were established by univariate analysis and multivariate logistic regression analysis. Hosmer and Lemeshow test was used to test the goodness of the fit of risk factors.
Main outcome measures: Risk factors for delayed diagnosis of KD.
Results: There were 1,354 males and 840 females in 2,194 children with KD. The median age of onset was 21 (11-43) months. There were 168 cases enrolled in delayed diagnosis group. Compared with the non-delayed diagnosis group, the proportion of male and > 5 years old in the delayed diagnosis group were higher, the total fever duration was longer, the number of children who met the main diagnostic criteria was less, and the proportion of atypical KD children was higher, the levels of ALB and serum sodium were higher,the levels of ALT, TBiL and GGT were lower, the incidence of coronary artery injury was higher, the level of CRP, the absolute value and percentage of neutrophil and NLR before and after IVIG treatment were lower. The differences were statistically significant. The OR values of the total fever duration ≥10 days was 36.1(95% CI: 9.7-133.8), and the OR value of the cases meeting main diagnostic criteria was 0.40(95%CI：0.29~0.54).
Conclusion: The risk factors for delayed diagnosis of KD were that the total fever duration was more than ten days and the number of main diagnostic criteria was less than five.
Background: Some children with refractory mycoplasma pneumoniae pneumonia (MPP) are complicated with mucus thrombus which can lead to inflammatory stenosis or occlusion.
Objective: To investigate the factors affecting MPP with mucous plug in children.
DesignCase-control study.
Methods: Children with MPP who were hospitalized with bronchoalveolar lavage from June 2018 to June 2020 were included in the study. According to the fact whether mucous plug could be observed under fiberoptic bronchoscope for the first time, they were divided into non mucous plug group and mucous plug group. The general information, laboratory examination results, imaging reports and treatment of the children were intercepted from the medical record system and compared between the two groups.
Main outcome measures: Related factors of mucus thrombus in children with MPP.
Results: A total of 390 cases were included in this analysis, including 218 males and 172 females, with 287 cases in non mucous plug group and 103 cases in mucous plug group. Compared with the non mucous plug group, the mucous plug group had higher average age of onset, longer duration of fever and hospital stay, higher proportion of pulmonary consolidation, extrapulmonary complications, higher CPIS score, lower blood lymphocyte count, higher levels of CRP, LDH, ALT, D-dimer and MP-DNA (log10), and higher proportion of glucocorticoid treatment. The time from the onset to the use of macrolides, glucocorticoids and bronchofiberscope lavage was longer, and the proportion of patients who received bronchoalveolar lavage more than twice was higher. The differences between two groups were statistically significant. Logistic regression analysis showed that MP-DNA copy number (OR=4.35, 95% CI: 1.66-11.38, P=0.003) and the time from onset to glucocorticoid use (OR=3.70, 95% CI: 1.42-9.64, P=0.007) were associated with the formation of MPP mucus thrombus.
Conclusion: MPP children have longer duration of fever, higher inflammatory infection index, and higher MP-DNA load and CPIS clinical score. Glucocorticoid and bronchoalveolar lavage should be used as early as possible to prevent the formation of mucous plug.
Background: Prospective follow-up studies on children with adenovirus pneumonia after discharge are few, and there is no effective predictor of the risk factors for adenovirus pneumonia developing into post-infectious bronchiolitis obliterans (PIBO).
Objective: To investigate the predictive value of the indicators during hospitalization of adenovirus pneumonia for PIBO in the future.
Design: Nested case-control study.
Methods: Children discharged from hospital who were diagnosed as adenovirus pneumonia from 2018 to 2019 were selected as the cohort, and whether PIBO occurred within one year after discharge was the end point. We arrange them to come to our hospital for a follow-up 2 weeks after discharge. Within 3 months we will arrange them a chest imaging examination, and follow-up will be done by telephone or in the hospital at the 12th month after discharge. The time points mentioned above are essential and other follow-up arrangement will be based on the condition of children. The symptoms and physical signs at admission, results of laboratory examination and imaging examination and treatment during hospitalization will be extracted.
Main outcome measures: Risk factors for PIBO.
Results: A total of 102 patients were followed up for one year, of which 51 patients had respiratory infection, 13 patients had more than 5 outpatient visits and 6 patients needed hospitalization due to respiratory infection, 43 cases were treated with oral corticosteroids and 35 cases were treated with inhaled corticosteroids. Twenty-nine cases (28.4%) were diagnosed with PIBO. Univariate analysis of the clinical data of patients in PIBO group and non-PIBO group showed that there were significant differences (P<0.05) in average age, history of allergic rhinitis, wheezing, anhelation, retraction sign of three fossae, wheezing sound, respiratory failure, the average concentration of lactate dehydrogenase, virus infection, combining two or more kinds of pathogen infection, lung parenchyma infiltration ≥3 lung lobes, lung consolidation, atelectasis, average length of hospital stay between the two groups. Multiple Logistic regression analysis showed that wheezing in the acute stage (OR=3.110, P=0.045) and more than 3 involved lung lobes (OR=4.338, P=0.014) were independent risk factors for PIBO.
Conclusion: The incidence of PIBO in children with adenovirus pneumonia within 1 year after discharge from hospital was 28.4%. Wheezing in the acute stage and more than 3 involved lung lobes were independent risk factors for PIBO in children with adenovirus pneumonia.
Abstract
Background: The diagnosis of neuropsychological developmental disorders in children mainly depends on clinical manifestations at present, and there is still a lack of objective biological indicators. The eye characteristics of some children with neuropsychological developmental disorders may have important clinical value.
Objective: To evaluate whether still eye photos can be used as a potential screening test for neuropsychological developmental disorders in children.
Design: Case-control study.
Methods: The Google image search engine was run with key words autism and child/autistic child/normal child/healthy child separately in order to select the sample images. Then the images were divided into two subsets, corresponding to population labeled with case and control respectively. Duplicated photos, cartoon photos, photos with facial deformity, photos without children's faces and photos with many children's faces hard to determine the research objects were deleted. Face tools identified and extracted the face out of each photograph. The resulting face images were scaled to 128 × 28 resolution (8-bit grayscale). Convolution neural network (CNN) was used in a machine installed with Keras, Scipy, Python imaging library (PIL). The binary cross entropy loss and rmsprop optimizer were used to train the model. The images were divided into training set, verification set and test set. The test score regarded as correct classification was more than 0.5 in case group and less than 0.5 or equal to 0.5 in the control group, and the training was stopped at 25 times. The grouping search results were regarded as the "gold standard", and the training group was regarded as the test standard to obtain the calculation accuracy and loss rate.
Main outcome measures: Eye images generated from two sets of features.
Results: Totally, 826 eye images were collected, 413 in the neuropsychological developmental disorders group and 413 in the control group. There were 736 (89.1%) in the training set, 44 (5.3%) in the validation set, and 46 (5.6%) in the test set. With increasing number of training sessions, the training and validation set accuracy rates showed an increasing trend while the training and validation loss rates gradually decreased. Test scores were 0.66±0.20 and 0.20±0.15, respectively in neuropsychological developmental disorder group and control group (t=9.03, P<0.001), and the number of correctly classified cases was 18/23 (78.3%) and 22/23 (95.6%). The mean accuracy of the two groups was 87.0%, the sensitivity was 78.3% (95% CI: 58.1%~90.3%), and the specificity was 95.6% (95% CI: 79.0%~99.2%). The receiver operating characteristic (ROC) curve of the trained model with deep learning showed the area under curve ROC (AUC) was 0.962. Eyes interval in the neuropsychological developmental disorder and control groups was generated by visualization of convolution layer of CNN, with the number of pixels being 90 and 70 in neuropsychological developmental disorder group and control group respectively.
Conclusion: Supervised deep learning can obtain eye features of children with neuropsychological developmental disorders, which may be helpful to improve the early screening of neuropsychological developmental disorders by evaluating eye photos.
Objective: We amied to report a case of DUOXA2 gene related congenital hypothyroidism (CH) and to summarize its clinical features and characteristics of gene variants.
Methods: The clinical phenotype and genotype of a girl with CH admitted to the Children's Hospital of Fudan University were analyzed. We searched "DUOXA2 gene" or "dual oxidase maturation factor 2" in CNKI, Wanfang database, VIP database, China Biomedical Literature database, PubMed and Web of Science database. All the databases were searched from the inception to Aug 16, 2020.
Results: The girl at the age of 25 days showed TSH 224 mU·L-1 by newborn screening, TSH 100 mU·L-1 and FT4 0 pmol·L-1 by serum thyroid function, and bilateral goiter by thyroid ultrasound. Clinical exome sequencing analysis showed DUOXA2 gene c.738C>G (p.Y246X) and c.341G>C (p.G114A) heterozygous pathogenic variants. Followed-up to 3 years and 8 months old, her intelligence and growth were normal after taking levothyroxine sodium tablets. Forty cases of DUOXA2 gene disease have been reported at home and abroad, of which 19 cases have follow-up data. The biallelic and monoallelic DUOXA2 variants have statistical significance in the TSH level at newborn screening and in the serum TSH level at diagnosis respectively (P1=0.023; P2=0.003), but serum FT4 level at diagnosis, thyroid size, withdrawal or retreatment after withdrawal and outcome were not statistically significant.
Conclusion: It may be bialletic variants if the TSH level is significantly increased in DUOXA2 gene related CH.
