Objective:To investigate the clinical features of placental thrombosis complicated with fetal growth restriction(FGR),and to analyze its diagnosis and treatment methods. Methods:Combined with reviewing the relevant literatures, the clinical data of a case of placental thrombosis complicated with FGR was retrospectively analyzed. The patient with 32 1/7 weeks of gestation was hospitalized due to placental blood sinus found one month ago;at the same time FGR was found by ultrasound examination. The patient was intravenously given nutritional support treatment such as amino acid and glucose.At the same time, the patient was continuously given low-flow oxygen. Results:The patient received cesarean section at 35 2/7 weeks of gestation and a baby girl with 1 280 g weight and 32 cm length was gained;many blood sinus in the maternal surface of placenta were seen with the largest diameter of 3-4cm;the placenta was hypertrophic, weighted 540 g .After operation,the newborn was transferred to Department of Neonatology and followed up for 1 month.1 month later, the infant could eat by herself, other physical examinations were finished without any obvious abnormal findings and the newbron discharged from hospital after recovery. Conclusion:Placental thrombosis complicated with FGR is very common in clinic and this disease severely endangers the neonatal health. Early diagnosis and reasonable treatment can improve the pregnancy outcomes.

Objective: To investigate the awareness of core tuberculosis (TB) knowledge and the willingness to TB preventive intervention among secondary school students in Lanzhou City, so as to provide a reference basis for the prevention and control of TB in schools. Methods: From April to June 2024, a total of 1 127 secondary school students from 8 schools in 4 districts (counties) of Lanzhou City were recruited by stratified cluster sampling method to conduct a questionnaire survey on the awareness of core TB knowledge and the willingness for preventive intervention against latent tuberculosis infection. Data were analysed using χ 2 test and binary Logistic regression model. Results: The overall awareness rate of core TB knowledge among secondary school students in Lanzhou City was 74.48%, while only 25.91% demonstrated awareness of all core knowledge items. The lowest awareness was observed for the item "tuberculosis is a chronic infectious disease" (61.84%). About 94.85% of the students reported willingness to receive preventive interventions after a diagnosis of latent tuberculosis infection. Multifactorial Logistic regression analysis showed that students whose father s education was junior high school ( OR=3.14, 95%CI =1.22-8.08), senior high school or secondary vocational school ( OR=3.55，95%CI =1.16-10.86) had a higher willingness to receive preventive interventions than those whose father s education was primary school or below (both P <0.05). In addition, students who recognized "suspected tuberculosis" were also more likely to express willingness to receive preventive interventions ( OR=1.96, 95%CI =1.01-3.80, P <0.05). Conclusions The total awareness rate of core TB knowledge among secondary school students in Lanzhou City is low; willingness to receive preventive interventions for latent tuberculosis infection is high and it is related to father s literacy and core TB knowledge level.

Objective To explore the predictive value of routine echocardiographic and electrocardiographic parameters in late gadolinium enhancement ( LGE ) in hypertrophic cardiomyopathy ( HCM ) . Methods The study population consisted of a consecutive series of 95 HCM patients .According to the presence of LGE on cardiac magnetic resonance (CMR) ,these patients were divided into two groups :HCM patients with LGE ( n = 71) and HCM patients without LGE ( n = 24) . The parameters of routine echocardiography and electrocardiography were compared between the two groups . ROC and Logistic analysis were made to find the predictors of LGE . Results ① As compared to those without LGE ,HCM patients with LGE had higher prevalence of chest pain ( P = 0 .027) ,β-blocker treatment ( P = 0 .024) , increased maximal left ventricular wall thickness ( MLVWT ) ( P < 0 .0001 ) ,non-sustained ventricular tachycardia ( P = 0 .034) ,prolonged the rate-corrected cardiac QT interval ( QTc) ( P = 0 .011) ,T-wave inversion ( TWI) ( P = 0 .009) ,but reduced early diastolic mitral annular velocity ( e′) ( P = 0 .001) . ②Univariate predictors of LGE on CMR were :increased MLVWT ,reduced e′ ,prolonged QTc and more TWI . Only MLVWT ( OR = 1 .23 ,95％ CI = 1 .05 - 1 .44 , P = 0 .013) and e′( OR = 1 .23 ,95％ CI = 0 .52 - 0 .96 , P =0 .028) remained independent after multivariable analysis . Furthermore ,the ROC analysis showed that these two parameters had discriminative ability to identify those with LGE . To be specific ,HCM patients with MLVWT ≥ 21 .5 mm or e′ ≤ 5 .55 cm /s were more likely to present with LGE . ③ The leads number of TWI was positively correlated with percentage of LGE in left ventricular mass ( LGE ％ ) ( r = 0 .220 , P =0 .044) ,but there was no correlation between location of TWI on ECG and territory of LGE on CMR . Conclusions In HCM patients ,MLVWT and e′ are independent predictors of LGE on CMR . Furthermore , although the leads number of TWI is correlated with LGE ％ ,no correlation has been found between location of TWI on ECG and territory of LGE on CMR .

Objective To investigate whether three-dimensional speckle tracking imaging ( 3D-STI) combined with conventional echocardiography can identify cardiac functional characteristics and predict adverse cardiovascular events in patients with hypertrophic cardiomyopathy ( HCM ) . Methods One hundred and eighty HCM patients were involved in the study . All patients were followed up to March 2017 after comprehensive evaluation of 3D-STI and conventional echocardiography for endpoint events . The endpoint events were divided into the primary and secondary endpoints . The primary endpoints included sudden cardiac death ( SCD ) , survival after cardioversion and appropriate implantable cardioverter-defibrillator( ICD) discharge ;the secondary endpoints included acute myocardial infarction ,heart failure hospitalization ,thromboembolism and endstage HCM . The composite endpoints contained primary or secondary endpoints . Results ①Totally 175 HCM patients completed the follow-up [ ( 435 ± 204) days] . During follow-up ,25 patients ( 14 .3% ) reached composite endpoints :8 cases of the primary endpoints ( 3 cases of sudden cardiac death ,3 cases of survival after defibrillation ,and 2 cases of appropriate implantable cardioverter-defibrillator discharge ) ; 17 cases of the second endpoints ( 14 cases of heart failure hospitalization ,2 cases of thromboembolism ,and 1 case of end-stage HCM ) . ② Patients with primary endpoints had higher NYHA class ,reduced systolic and early diastolic mitral annular velocities (MV s′and MV e′) ,decreased systolic tricuspid annular velocity ( TV s′) ,and impaired 3D left ventricular global longitudinal strain ( GLS ) ,as compared to those without primary endpoints ( n ＝ 167 ) ( P ＜ 0 .05 ) . Impaired 3D GLS ( hazard ratio was 0 .72 ,95% CI was 0 .53 －0 .98 , P ＝ 0 .035) and decreased TV s′( hazard ratio was 0 .70 ,95% CI was 0 .54－0 .91 , P ＝0 .007) were independent predictor factor for primary endpoints . 3D GLS≤11 .7% or TV s′≤12 .7 cm/s raised the risk of primary endpoints . ③Similarly ,HCM patients with composite endpoints ( n ＝25) had higher NYHA class ,enlarged left atrial diameter ( LAD) , reduced MV s′,MV e′ and TV s′,as well as impaired 3D GLS ( P ＜ 0 .05) ,when compared to those without composite endpoints ( n＝150) . Moreover ,impaired 3D GLS ( hazard ratio was 0 .68 ,95% CI was 0 .56－0 .81 , P ＝0 .000) was independent predictor for composite endpoints ;and patients with 3D GLS≤12 .9% was more susceptible to composite endpoints . Conclusions 3D GLS combined with TV s′ are of value in predicting adverse cardiovascular events .

Objective: To evaluate the predicting value of the 2014 European Society of Cardiology (ESC) guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy (HCM), and to explore the predictors of adverse cardiovascular events in Chinese HCM patients. Methods: The study population consisted of a consecutive 207 HCM patients admitted in our center from October 2014 to October 2016. All patients were followed up to March 2017. The 5-year SCD probability of each patient was estimated using HCM Risk-SCD model based on electrocardiogram, echocardiography and cardiac magnetic resonance (CMR) examination results. The primary, second, and composite endpoints were recorded. The primary endpoint included SCD and appropriate ICD therapy, identical to the HCM Risk-SCD endpoint. The second endpoint included acute myocardial infarction, hospitalization for heart failure, thrombus embolism and end-stage HCM. The composite endpoint was either the primary or the second endpoint. Patients were divided into the 3 categories according to 5-year SCD probability assessed by HCM Risk-SCD model: low risk group<4%,intermediate risk group ≥4% to<6%, and high risk group≥6%. Results: (1) Prevalence of endpoints: All 207 HCM patients completed the follow-up (350 (230, 547) days). During follow-up, 8 (3.86%) patients reached the primary endpoints (3 cases of SCD, 3 cases of survival after defibrillation, and 2 cases of appropriate ICD discharge); 21 (10.14%) patients reached the second endpoints (1 case of acute myocardial infarction, 16 cases of heart failure hospitalization, 2 cases of thromboembolism, and 2 cases of end-stage HCM). (2) Predicting value of HCM Risk-SCD model: Patients with primary endpoints had higher prevalence of syncope and intermediate-high risk of 5-year SCD, as compared to those without primary endpoints (both P<0.05). (3) Predicting value of HCM Risk-SCD model: The low risk group included 122 patients (59%), the intermediate risk group 42 (20%), and the high risk group 43 (21%). There was a clear trend towards to higher heart rate, higher values of PTF_V1 and plane QRS-T angle, higher left ventricular mass index (LVMI), elevated maximal left ventricular outflow tract pressure gradient (LVOT-PGmax), enlarged left atrial dimension(LAD) and volume index (LAVI), reduced systolic mitral annular velocity (s'), and higher late gadolinium enhancement (LGE) volume and mass in patients with high risk of 5-year of SCD, as compared to those with low-intermediate risk (all P<0.05). Moreover, 5-year SCD probability was positively correlated with heart rate, plane QRS-T angle, LVMI, LAVI, LGE%, and negatively correlated with s'(r=0.161, P=0.019; r=0.669, P=0.001; r=0.206, P=0.004; r=0.284, P=0.000; r=0.351, P=0.000; r= -0.245, P=0.001; respectively). (4) LAD, LAVI, e' and s' were independent predictors for poor outcomes. HCM patients with LAD≥39 mm, LAVI≥49.6 ml/m², e'≤6.5 cm/s and s'≤6.6 cm/s were more likely to have adverse cardiovascular events (AUC 0.702, 95%CI 0.604-0.799, P=0.001; AUC 0.700, 95%CI 0.567-0.833, P=0.001; AUC 0.716, 95%CI 0.616-0.817, P=0.000; AUC 0.764, 95%CI 0.676-0.853, P=0.000,respectively). Conclusions The HCM Risk-SCD model is of value in predicting SCD for Chinese HCM patients. The plane QRS-T angle and LGE% are the best predictors of 5-year SCD risk in Chinese HCM patients. Moreover, conventional echocardiographic parameters, including LAD, LAVI, e' and s', are useful to predict adverse cardiovascular events among Chinese HCM patients.

Objective:To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation, and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods:Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected, including the symptoms, comprehensive physical examination, blood, cerebrospinal fluid, imaging, electrophysiological examination, diagnosis and treatment process, response to treatment and other clinical data, as well as the sequencing results of the whole exome of the children. The efficacy and safety of lacosamide were analyzed, and the related literatures of the Biomedical Literature Database, Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results:Both of the 2 cases were girl. Their onset age was within 3 months. The initial symptoms were frequent convulsions and backward development. There was no structural abnormality in the head image. The convulsions could not be controlled according to conventional multidrug treatment. The seizures were quickly controlled with lacosamide. Now they have been followed up for 6 months. No obvious adverse reactions were found. Case 1 gene test results showed the SCN2A gene (chr2:166152333-166246334) heterozygous deletion, SCN1A gene (chr2:166847754-16693013) heterozygous deletion, the deletion size being about 5.72 Mb. Case 2 gene test results showed new missense mutation of SCN2A (c.1285G>A, p.Glu429Lys). There were dozens of seizures every day. They were treated with valproic acid, oxcarbazepine and levetiracetam successively. The seizures could not be controlled. Three focal seizures originated in the left temporal region were detected by electroencephalogram. There was no recurrence on the third day after adding lacosamide, and there was no attack after 5 months of follow-up. No obvious adverse reactions were found during follow-up.Conclusions:Sodium channel related epileptic encephalopathy often starts early, has frequent seizures, and can be accompanied by backward psychomotor development at the same time. The slow sodium channel blocker lacosamide has good efficacy and safety in the treatment of sodium channel-related epilepsy with SCN2A gene mutation or combined SCN1A gene mutation.

Clinical data of a child with high blood ammonia and suspected argininosuccinate synthetase deficiency (ASSD) in Hunan Children′s Hospital were retrospectively analyzed, including data of mass spectra for blood amino acids and acyl carnitine, urine organic acid analysis and whole exome sequencing.After the exact diagnosis of ASSD and being approved by the Administrative Regulation for Import Medical Devices Urgently Needed in Boao Lecheng International Medical Tourism Pilot Zone of Hainan Free Trade Port, the patient was medicated with Glyceryl phenylbutyrate (GPB) and followed up.The patient was a boy aged 7 years and 8 months, who presented at the Neurology Department of Hunan Children′s Hospital for sleepiness, abnormal mental behavior and personality change for 1 week on December 2, 2021.Before GPB treatment, the highest blood ammonia, alanine aminotransferase and aspartate transaminase were 325.2 μmol/L, 465.7 IU/L and 277.3 IU/L, respectively.Genetic metabolism assay of blood and urine showed a significantly increased citrulline at 697.42 μmol/L; urine organic acid analysis showed increased urinary orotic acid at 144.2 μmol/L, and increased uracil at 65.1 μmol/L.A pure heterozygous variant of the ASS1 gene (c.1087C>T, p.R363W) was detected.After GPB treatment, the blood ammonia levels were 21.3 μmol/L, 54.6 μmol/L and 62.4 μmol/L on the 41 st, 90 th and 146 th days, respectively.Until July 20, 2022 follow-up visit, the patient recovered well without adverse events.This was the first ASSD child in China who was treated with GPB.This case report provided therapeutic experience of ASSD in our country.ASSD has a high mortality rate and unexplained abnormal mental behavior.It is necessary to timely measure blood ammonia, and a series of urea cycle disorders should be well concerned.The diagnosis and management of ASSD rely on the data of metabolism examination and genetic testing.

OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease. METHODS: A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software. CONCLUSION Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.
Female ; Humans ; Exome Sequencing ; Mitochondrial Diseases/genetics* ; Mothers ; Mutation ; Phenotype ; Child

Objective:To investigate the clinical features, treatments and prognoses of children with antibody-mediated central nervous system (CNS) autoimmune diseases.Methods:Two hundred and seven children with antibody-mediated CNS autoimmune diseases confirmed by anti-neuronal antibody detection in blood and/or cerebrospinal fluid in Department of Neurology, Children's Hospital of Hunan Province from June 2014 to May 2022 were enrolled. Their clinical features, laboratory and imaging data, treatment regimens and prognoses were retrospectively analyzed.Results:Of the 207 children, 117 were positive for anti- N-methyl- D-aspartate receptor (NMDAR) antibodies, 63 for anti-myelin oligodendrocyte glycoprotein (MOG) antibodies, 32 for anti-glial fibrillary acidic protein (GFAP) antibodies, 6 for anti-contactin-associated protein-like 2 (CNTNAP2) antibodies, 3 for anti-aquaporin 4 (AQP4) antibodies, 2 for anti-gamma-aminobutyric acid type B receptor (GABABR) antibodies, and 1 for anti-anti-leucine-rich glioma-inactivated 1 (LGI1) antibodies. Acute disseminated encephalomyelitis (ADEM) was the most common clinical phenotype among the children, followed by optic neuritis (ON). Behavioral abnormalities, seizures, and involuntary movements were the most common clinical presentations of anti-NMDAR encephalitis for these children, while fever, headache, and disturbance of consciousness or vision were the most common symptoms for children with MOG antibody disease or autoimmune GFAP astrocytopathy. The coexistence of multiple anti-neural antibodies was detected in 17 patients, among which 10 had coexistent anti-NMDAR and anti-MOG antibodies (including 1 with anti-GFAP antibody), 3 had coexistent anti-NMDAR and anti-GFAP antibodies, 3 had coexistent anti-MOG and anti-GFAP antibodies, 2 had coexistent anti-NMDAR and anti-CASPR2 antibodies, and 1 had coexistent anti-GABABR and anti-CASPR2 antibodies. In our cohort, of the 202 children examined for cerebrospinal fluid, 154 had cerebrospinal fluid leukocytosis and 27 had elevated protein. Of the 203 children had electroencephalography, 179 was abnormal; abnormal EEG was mainly manifested as focal or global slow waves, and epileptic discharge in some children; 205 patients received immunotherapy. All survivors were followed up for at least 6 months; 164 recovered completely, 40 had varied sequelae, and 3 died; 28 had one or more relapses. Conclusion:Antibody-mediated CNS autoimmune diseases occur in children at all ages; most such pediatric patients have good response to immunotherapy, enjoying low mortality rate; however, some survivors have relapsing risk.

Objective To evaluate the characteristics of left ventricular structure ,function ,myocardial mechanics ,hemodynamics and synchrony in different phenotypes of hypertrophic cardiomyopathy ( HCM ) using state‐of‐the‐art echocardiography . Methods A consecutive series of 85 adult HCM patients w ho were admitted to the Xi Jing HCM center from January 2016 to November 2017 were collected . According to the peak left ventricular outflow tract pressure gradient in exercise stress echocardiography ,the patients were divided into three groups :patients with non‐obstructive HCM ( n ＝28) ,those with labile‐obstructive HCM ( n ＝27) ,and those with obstructive HCM ( n ＝ 30 ) . In addition ,16 normal family members of HCM patients were included as control group . T wo‐dimensional speckle tracking imaging ,tissue Doppler imaging and exercise stress echocardiography were used to evaluate the left ventricular function in resting and exercise states . Results ① As compared with the control group ,left ventricular end‐diastolic diameter decreased and left ventricular ejection fraction increased in all three HCM groups ( all P ＜ 0 .05 ) . Left ventricular maximum wall thickness and left ventricular mass index were the highest in obstructive HCM , followed by labile‐obstructive and non‐obstructive HCM ,and the lowest in the control group ( all P ＜0 .05) . ②A t rest ,the left ventricular global longitudinal ,circumferential and radial strain ( GLS ,GCS and GRS) ,as well as the twist of obstructive HCM were significantly lower than the other three groups ( all P ＜0 .05) . As compared with the control group ,the GLS and twist decreased in the labile‐obstructive and non‐obstructive HCM ( all P ＜0 .05 ) ,but there were no significant changes of GCS and GRS ( all P ＞ 0 .05 ) . T he obstructive HCM had the lowest mitral annular plane systolic excursion ( M APSE ) and s′,and the longest systolic peaking time standard deviation( T s‐SD) and early diastolic peaking time standard deviation ( Te‐SD) ( all P ＜0 .05) . T he left ventricular diastolic function of obstructive HCM ( e′,the E/e′ratio and the left atrial volume index ) was the worst ,labile‐obstruction and non‐obstructive HCM were better ,and the control group was the best ( all P ＜ 0 .001 ) . ③ During exercise ,the GLS ,GCS ,GRS ,twist of the left ventricle and the M APSE were the lowest in the obstructive HCM ,which increased in the labile‐obstructive and non‐obstructive HCM ,and were best in the control group . T he T s‐SD and Te‐SD were the shortest in the control group ,were prolonged in non‐obstructive and labile‐obstruction HCM ,and were longest in obstructive HCM ( all P ＜ 0 .05 ) . Additionally ,the exercise time of the control group was the longest , followed by non‐obstructive and labile‐obstruction HCM ,and the shortest in the obstructive HCM ( all P ＜0 .05) . T he M ET s of obstructive HCM were significantly lower than the other three groups ( all P ＜0 .05) . Conclusions In obstructive HCM ,the left ventricular systolic strain and synchronization ,as well as the M APSE ,are significantly impaired in patients both at rest and during exercise . T he patients with labile‐obstructive and non‐obstructive HCM have reduced left ventricular GLS , twist ,and e′,but normal left ventricular GCS ,GRS ,synchrony ,and M APSE at rest ,which are all impaired during exercise .