OBJECTIVETo investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis.

METHODSG-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents.

RESULTSThe proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal.

CONCLUSIONClinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.

Chromosomes, Human, Pair 3 ; genetics ; Cytogenetic Analysis ; methods ; Cytogenetics ; methods ; Developmental Disabilities ; genetics ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Infant ; Karyotyping ; methods ; Ring Chromosomes ; Syndrome

A coxsackievirus B strain was successfully isolated by cells culture from cardiac muscle tissues of a dead Sichuan golden monkey with myocarditis from a zoo of Changchun in China. The isolate was consistent with CVB by morphology, physicochemistry test, animal regression test and RT-PCR. Analysis of VP1 partial gene sequence and detection of mice specific serum IgG showed that the strain isolated was a coxsackievirus B3. It was the first CVB case report in Sichuan golden monkey and the strain isolated was named CVB/SGM-05.
Animals ; Cercopithecus aethiops ; Enterovirus B, Human ; isolation & purification ; Haplorhini ; virology ; Heart ; virology ; Mice ; Reverse Transcriptase Polymerase Chain Reaction ; Vero Cells ; Viral Structural Proteins ; genetics

Objective: This study aimed to evaluate the epidemiological, clinical and mycological characteristics of invasive candidiasis (IC) in China. Methods: A ten-year retrospective study including 183 IC episodes was conducted in a tertiary hospital in Beijing, China. Results: The overall incidence of IC from 2010-2019 was 0.261 episodes per 1,000 discharges. Candidemia (71.0%) was the major infective pattern; 70.3% of the patients tested positive for Conclusion The incidence of IC has declined in the recent five years.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antifungal Agents/pharmacology* ; Candidiasis, Invasive/microbiology* ; Child ; Child, Preschool ; China/epidemiology* ; Drug Resistance, Fungal ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Retrospective Studies ; Tertiary Care Centers/statistics & numerical data* ; Young Adult

OBJECTIVES: To explore the optimal maintenance dose of caffeine citrate for preterm infants requiring assisted ventilation and caffeine citrate treatment. METHODS: A retrospective analysis was performed on the medical data of 566 preterm infants (gestational age ≤34 weeks) who were treated and required assisted ventilation and caffeine citrate treatment in the neonatal intensive care unit of 30 tertiary hospitals in Jiangsu Province of China between January 1 and December 31, 2019. The 405 preterm infants receiving high-dose (10 mg/kg per day) caffeine citrate after a loading dose of 20 mg/kg within 24 hours after birth were enrolled as the high-dose group. The 161 preterm infants receiving low-dose (5 mg/kg per day) caffeine citrate were enrolled as the low-dose group. RESULTS: Compared with the low-dose group, the high-dose group had significant reductions in the need for high-concentration oxygen during assisted ventilation (P=0.044), the duration of oxygen inhalation after weaning from noninvasive ventilation (P<0.01), total oxygen inhalation time during hospitalization (P<0.01), the proportion of preterm infants requiring noninvasive ventilation again (P<0.01), the rate of use of pulmonary surfactant and budesonide (P<0.05), and the incidence rates of apnea and bronchopulmonary dysplasia (P<0.01), but the high-dose group had a significantly increased incidence rate of feeding intolerance (P=0.032). There were no significant differences between the two groups in the body weight change, the incidence rates of retinopathy of prematurity, intraventricular hemorrhage or necrotizing enterocolitis, the mortality rate, and the duration of caffeine use (P>0.05). CONCLUSIONS This pilot multicenter study shows that the high maintenance dose (10 mg/kg per day) is generally beneficial to preterm infants in China and does not increase the incidence rate of common adverse reactions. For the risk of feeding intolerance, further research is needed to eliminate the interference of confounding factors as far as possible.
Caffeine/therapeutic use* ; Citrates ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Respiration, Artificial ; Retrospective Studies