ObjectiveTo investigate the differences in abnormal liver biochemical parameters in pregnant patients during the epidemic or non-epidemic period of coronavirus disease 2019 （COVID-19）. MethodsA retrospective analysis was performed for 539 pregnant women who were discharged from Department of Obstetrics， Peking University First Hospital， from October 2017 to March 2022 and had at least one abnormal liver biochemical parameter among alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， gamma-glutamyl transpeptidase （GGT）， total bilirubin （TBil）， and total bile acid. The patients in the epidemic period of COVID-19 and those in the non-epidemic period of COVID-19 were compared in terms of etiology， coagulation parameters， aminotransferases， bile acid， and renal function. The independent samples t-test was used for comparison of continuous data between two groups， and the chi-square test was used for comparison of categorical data between two groups. ResultsAmong the patients discharged from Department of Obstetrics during the non-epidemic period of COVID-19， 262 had abnormal liver biochemical parameters， accounting for 1.46%， while 277 patients had abnormal liver biochemical parameters during the epidemic period of COVID-19， accounting for 1.73% among the patients discharged from Department of Obstetrics during the same period of time， and there was a significant difference between these two groups （χ²=3.947， P=0.047）. The etiological analysis of the patients with abnormal liver biochemical parameters during the two periods showed that there was no difference in the proportion of patients with four pregnancy-specific liver diseases （hyperemesis gravidarum， preeclampsia and eclampsia， intrahepatic cholestasis of pregnancy， and acute fatty liver of pregnancy）. As for the patients with abnormal liver biochemical parameters in pregnancy， there was no significant difference in the proportion of patients with normal creatinine and stimated glomerular filtration rate （eGFR） between the epidemic period and the non-epidemic period （86.78% vs 87.90%， χ²=0.141， P=0.708）. The patients with ALT≥5×upper limit of normal accounted for 7.94% in the epidemic period of COVID-19 and 9.54% in the non-epidemic period （χ²=0.433， P=0.511）， and the patients with severe cholestasis accounted for 7.75% in the epidemic period of COVID-19 and 9.27% in the non-epidemic period （χ²=0.392， P=0.531）. The proportion of patients with obstetric bleeding during the epidemic period of COVID-19 was significantly lower than that during the non-epidemic period （14.61% vs 24.19%， χ²=489.334， P<0.001）. ConclusionThere is no difference in the proportion of patients with pregnancy-specific liver diseases among the patients with abnormal liver biochemical parameters in pregnancy between the epidemic period and the non-epidemic period of COVID-19， and there is no change in the proportion of patients with normal creatinine and eGFR among these patients in the epidemic period of COVID-19.

BACKGROUND: Current studies on the COVID-19 depicted a general incubation period distribution and did not examine whether the incubation period distribution varies across patients living in different geographical locations with varying environmental attributes. Profiling the incubation distributions geographically help to determine the appropriate quarantine duration for different regions. METHODS: This retrospective study mainly applied big data analytics and methodology, using the publicly accessible clinical report for patients (n = 543) confirmed as infected in Shenzhen and Hefei, China. Based on 217 patients on whom the incubation period could be identified by the epidemiological method. Statistical and econometric methods were employed to investigate how the incubation distributions varied between infected cases reported in Shenzhen and Hefei. RESULTS: The median incubation period of the COVID-19 for all the 217 infected patients was 8 days (95% CI 7 to 9), while median values were 9 days in Shenzhen and 4 days in Hefei. The incubation period probably has an inverse U-shaped association with the meteorological temperature. The warmer condition in the winter of Shenzhen, average environmental temperature between 10 °C to 15 °C, may decrease viral virulence and result in more extended incubation periods. CONCLUSION Case studies of the COVID-19 outbreak in Shenzhen and Hefei indicated that the incubation period of COVID-19 had exhibited evident geographical disparities, although the pathological causality between meteorological conditions and incubation period deserves further investigation. Methodologies based on big data released by local public health authorities are applicable for identifying incubation period and relevant epidemiological research.
Adolescent ; Adult ; Aged ; COVID-19/prevention & control* ; Child ; China/epidemiology* ; Female ; Geography ; Humans ; Infectious Disease Incubation Period ; Male ; Middle Aged ; Quarantine ; Retrospective Studies ; SARS-CoV-2 ; Young Adult

Objective:To study the clinical features and molecular genetic mechanisms of children with lissencephaly (LIS), as well as to analyze the relationship between genotypes and phenotypes of the disease.Methods:From October 2016 to December 2017, the clinical data and follow-ups of 21 LIS children were collected in the Department of Neurology, Shenzhen Children′s Hospital.Whole genome sequencing (WGS) was performed for genetic testing.Results:Among these 21 cases, 18 cases developed epilepsy (86%), and 3 cases were seizure free (14%). The onset age of children with epilepsy was relatively young, and 16 cases occurred within 1 year old (89%). Among these cases, 16 were pachygyria (76%), 3 cases were agyria combined with pachygyria (14%) and 2 cases were agyria (10%). Epileptic syndromes included 12 cases of West syndrome (67%), 2 cases of Ohtahara syndrome (11%), 2 cases of other epileptic encephalopathy (11%), and 2 cases of focal epilepsy (11%). Brain magnetic resonance imaging(MRI) demonstrated that most cases were pachygyria, among which diffuse pachygyria was more common (56%, 9/16 cases). The results of WGS: 13 pathogenic or likely pathogenic single nucleotide variants (SNV) and copy number variants (CNV) were detected.The total detection rate was 62%, of which 2 cases were frameshift, 1 case was nonsense and 1 case was missense variants of PAFAH1B1, 6 cases were chromosome 17p13.3 deletion syndrome, thus lea-ding to the whole gene deletion of PAFAH1B1, and 1 case was missense variant of DCX, frameshift variant of KIF2A, and missense variant of PIK3R2, respectively.Totally, 48% (10/21 cases) of the cases were variants or deletions of PAFAH1B1, which resulted in lissencephaly in the parietal-occipital region of the brain.Novel variants were PAFAH1B1: c.1067G>A, PAFAH1B1: c.897delT and KIF2A: c.2225delG. Conclusions:Most cases of LIS accompanied with epilepsy, in which West syndrome was relatively more common.Brain MRI showed that most cases were diffuse pachygyria.The variants and deletions of PAFAH1B1 was the main genetic cause of LIS.The identification of the novel variants expanded the genotypical spectrum of LIS.

Objective:To study the effect of adapted rhythmic gymnastics based on International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) on the fundamental motor skill development for children with low function autism spectrum disorder (ASD). Methods:Three boys aged 7.2 to 8 years with low function ASD (IQ 47 to 53) participated in the exercise since September, 2019. Their activities and motor function were analyzed with ICF-CY to develop a 12-week rehabilitation exercise, including physical fitness, gymnastics skills content and game. They were assessed with ICF-CY based Questionnaire and gross motor of Peabody Developmental Motor Scales (PDMS-2) before and after training. Results:The qualifiers of body structure, body function, activity and participation improved somehow after training. The scores of gross motor skills of PDMS-2 improved. Conclusion:The adapted rhythmic gymnastics training based on ICF-CY may improve the functioning, especially motor function, for children with low function ASD, which can be a kind of rehabilitation exercise.

Objective:To analyze the brain functional fluctuation of benign epilepsy in children with central-temporal spikes(BECTS) by using ReHo algorithm based on the resting-state brain functional imaging, and to explore the connection of the brain function and changes of the connection pattern, so as to find the damage of the cognitive function of BECTS children in the early stage.Method:s Perspectiveness and simple random selection of 20 BECTS children and 20 healthy control children admitted to Shenzhen Children′s Hospital from January 2015 to December 2017 were conducted for basic information collection and functional magnetic resonance imaging (fMRI) testing in a resting-state.Result:s Significantly lower ReHo value appeared in the default mode network (DMN) area, and the precuneus (voxel=422, t=-5.085 6), cuneus (voxel=85, t=-4.240 3), angular gyrus (voxel=191, t=-4.681 2), cingulate cortex (voxel=313, t=-5.238 2), anterior central gyrus (voxel=12, t=-3.482 7), and supplementary motor area (voxel=1 356, t-6.596 2). The significantly increased ReHo was found in the bilateral cerebellum (voxel=71, t=5.658 2), right superior temporal gyrus (voxel=24, t= 5.184 0), operculum insulae (voxel=337, t=6.814 9), left parietal lobe (voxel=12, t=4.378 7), and inferior parietal lobule (voxel=11, t=3.433 7). Conclusions:Significant impairment of DMN, Wernicke and angular gyrus functions in BECTS children may be one of the mechanisms of cognitive dysfunction.Enhanced sensorimotor area and cortical brain functions near the operculum insulae and central sulcus lead to seizures with typical clinical symptoms.fMRI has a high specificity and sensitivity for evaluating the brain function of children with BECTS, and it can detect the impairment of cognitive function in children with this type of epilepsy at an early stage.

Objective: To explore the predictive value of minimal residual disease (MRD) level in Ph-negative precursor B-acute lymphoblastic leukemia (ALL) patients. Methods: De novo 193 Ph-negative B-ALL patients from Sep 2010 to Nov 2017 were involved in the study. The patients' MRD evaluation which can be performed by multiparametric flow cytometry (MFC) after 1 month, 3-month, 6-month treatment. Relapse free survival (RFS) and overall survival (OS) were compared in patients with different MRD level. Results: The median follow-up was 22 months. All patients was evaluated at 497 MRD level. Patients who reach the good MRD level at 1 month (<0.1% or ≥0.1%), 3-month (negative or positive), 6-month (negative or positive) had a significantly higher probability of estimated RFS (74.5% vs 29.9%; 75.6% vs 29.7%; 74.6% vs 11.6%) and of estimated OS (67.5% vs 30.3%; 71.6% vs 27.8%; 74.0% vs 15.7%). Patients who reach the MRD negative at all 3 times had a significantly higher probability of estimated RFS (80.5% vs 30.5%) and better estimated OS (77.1% vs 29.4%) compared to patients with at least MRD failure in one time (P<0.001). Multivariable analysis showed MRD level at 3-month was an independent prognostic factor for DFS and OS. Conclusion: MRD is an important prognosis factor for Ph-negative B- ALL patients.
Flow Cytometry ; Humans ; Neoplasm, Residual ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Recurrence

OBJECTIVETo analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.

METHODSClinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.

RESULTSAnalysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.

CONCLUSIONAcyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.

Base Sequence ; Carnitine O-Palmitoyltransferase ; deficiency ; genetics ; Exons ; Female ; Humans ; Hypoglycemia ; enzymology ; genetics ; Infant ; Lipid Metabolism, Inborn Errors ; enzymology ; genetics ; Male ; Molecular Sequence Data ; Point Mutation ; Pregnancy

OBJECTIVETo analyze the ultra microstructures and the expression of platelet peroxidase (PPO) of megakaryocytes from bone marrow, their clinical manifestations and laboratory characteristics in patients with acute megakaryoblastic leukemia (AMKL).

METHODSKaryocytes from bone marrow of 22 AMKL patients were divided into two parts by lymphocyte separation liquid, one part was used to prepare the ordinary transmission electron microscope specimens to observe the morphological structures of megakaryocytes, the other was used to prepare the histochemical specimens of platelet peroxidase to analyze the positive reaction of PPO in AMKL, which were coupled with the patients' data of with bone marrow morphology, cell chemistry, and chromosome karyotype examination.

RESULTSMegakaryocytes from 17 of 22 patients were in the first stage, less than 20 µm in diameter, the nucleis were round, the cytoplasm contained microtubules, membranous vesicles and minute dense granules, no demarcation membrane system and surface-connected canalicular system, less dense granules and α-granules; Megakaryocytes in 5 cases were mainly in the first stage, while containing second and third stage megakaryocytes; the positive rate of PPO in megakaryocytes of 22 patients was 0-80%. The primitive and naive megakaryocytes were found in bone marrow smears of 22 cases, CD41 staining of the megakaryocytes was detected in the primitive and naive megakaryocytes, and more complex chromosome karyotype anomalies were observed.

CONCLUSIONThe majority of megakaryocytes in AMKL patients were the first stage ones, the rest were second and third stage ones, and the positive PPO reaction was significantly different. CD41 staining of the megakaryocytes was specific with complex chromosome karyotypeswere.

Blood Platelets ; enzymology ; Bone Marrow ; pathology ; Cell Count ; Chromosome Aberrations ; Chromosome Disorders ; Humans ; Karyotyping ; Leukemia, Megakaryoblastic, Acute ; diagnosis ; pathology ; Megakaryocytes ; pathology ; Peroxidase ; metabolism ; Staining and Labeling

Objective To explore the efficacy of ketogenic diet( KD) in the treatment of status epi-lepticus( SE) and whether KD could protect the brain,and propose a new thought on SE patients′reasonably individualized treatment, brain protection and prognosis improvement. Methods From Sep 2013 to Jan 2015,all the patients diagnosed as SE were advised to apply KD treatment; the patients who refused KD treatment were included in the control group,while the patients who accepted KD treatment were included in the treatment group. Based on the SE treatment principles,the control group applied traditional anti-convulsive therapy,while the treatment group applied traditional therapy combined with KD treatment. Before the treat-ment and after the epilepsy control,the patients′ serum was collected to test neuron specific enolase( NSE) and S100βlevels,and the duration of epilepsy control was recorded. Results The treatment group included a total of 10 patients; 3 patients had a good efficacy and obtained seizure-free after the treatment; clinical seizures declined significantly in 6 patients. The treatment group′s overall response rate was 9/10,which was higher than that of the control group(5/8)(P<0. 01). The treatment group′s duration to gain efficacy was shorter than that of the control group[(5. 2 ± 2. 9) d vs. (9. 8 ± 1. 5) d,P<0. 01]. After the treatment,the patients′NSE and S100β in both groups were significantly decreased than those before the treatment ( P<0. 001 or P<0. 05). After the treatment,the serum NSE and S100β of the patients in the treatment group were lower than those in the control group,with statistically significant difference(P<0. 05). Conclusion Frequent epileptic seizures and SE would impair the patient′s brain. Controlling the epileptic seizures actively could lower the severity of brain injury. KD could effectively control the epileptic seizure and had neuropro-tective effects.