Objectives To provide genetic counseling and prenatal molecular diagnosis for two families with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods Two MLC patients (probands 1 and 2) were admitted to the Department of Pediatrics of Peking University First Hospital in June 2011 and June 2009,respectively.Peripheral blood was collected and DNA sequencing was performed for genetic analysis for the two MLC patients and their parents.Amniotic fluid and villus of two fetuses (fetus 1 and 2) were collected at 21+4 and 12+3 weeks of gestational age from their mothers when they were pregnant again.The genomic DNA of the two fetuses was extracted and corresponding sites of MLC1 gene were sequenced.Haplotype analysis using a combination of 3 microsatellite markers (AR,DXS6807 and DXS6797) on chromosome X and sex determining region of Y chromosome was performed to detect maternal cell contamination.Verification of the prenatal molecular diagnosis and follow up study after birth were conducted for both fetuses.Results Macrocephaly,motor development delay and typical findings on brain MRI were identified in the two probands,and were clinically diagnosed with MLC.Compound heterozygous mutations were detected in proband 1 [c.353C＞T (p.T118M) and c.803C＞G (p.T268R)] and proband 2 [c.353C＞T (p.T118M) and c.836T＞C(p.L279P)],respectively.MLC was genetically diagnosed.Heterozygous variation in c.353[c.353C＞T (p.T118M)] and wild c.803C were identified in fetus 1,and both wild c.353C and c.836T were found in fetus 2.No maternal cell contamination was detected in both fetuses.Sequencing the corresponding sites after birth confirmed the prenatal diagnosis,and the head circumference and motor development were normal in fetus 1 at 5 months old.No macrocephaly was found and no DNA sequencing was done in fetus 2 at one month old.Conclusions Genetic counseling and prenatal molecular diagnosis for MLC families combined with clinical and genetic diagnosis are important in preventing MLC.Haplotype analysis with a combination of three microsatellite markers on chromosome X and sex determining region of Y chromosome is useful in detecting maternal cell contamination and avoiding its influence on prenatal diagnosis,and confirming the reliability of prenatal diagnosis.

Objective:To analyse the pathogenic bacteria distribution and clinical characteristics of late-onset sepsis (LOS) among premature infants with gestational age less than 34 weeks in Henan Province.Methods:The clinical data of 6 590 premature infants admitted to 17 medical institutions in Henan Province from January 2019 to December 2020 were retrospectively analyzed. The gestational age of infants was less than 34 weeks and was admitted to the neonatal ward within 7 days after birth. SPSS 19.0 statistical software was used for data analysis.Results:Among 6 590 premature infants LOS developed in 751 cases (11.40%), of whom the diagnosis was confirmed in 276 cases (36.75%) and 475 cases (63.25%) were diagnosed clinically. The fatality rate related to LOS was 13.58%. There were significant differences in the incidence of LOS and infection-related mortality among infants with different gestational ages and body weights ( χ2=388.894 and 13.572, χ2=472.282 and 9.257, P<0.05 or <0.01). Among 276 children with confirmed LOS, 286 strains of pathogenic bacteria were isolated. Gram-negative bacteria were most prevalent (178 strains), accounting for 62.24% of all infections, followed by fungi (58 strains, 20.28%). Klebsiella pneumoniae was most frequently detected Gram-negative bacteria (117 strains, 40.91%), among which 32.48% (38/117) was carbapenem-resistant Klebsiella pneumoniae. The proportion of diagnosed sepsis, the proportion of catheterization, and the infection-related mortality of infants with LOS in tertiary hospitals were all higher than those in secondary hospitals ( χ2=6.212, 5.313 and 4.435, all P<0.05). The proportion of exclusive breastfeeding in secondary hospitals was lower than that in tertiary hospitals ( χ2=19.216, P<0.05). The time of antibacterial drug use before infection in specialized hospitals was longer than that in general hospitals ( χ2=3.276, P<0.05). Conclusion:The incidence of LOS among preterm infants in Henan Province is high, which was mainly caused by Gram-negative bacteria. The clinical characteristics of LOS caused by different pathogens and in different health institutions are different, the prevention and control strategy should be developed accordingly to reduce the incidence LOS of preterm premature infants.

Epidemiological studies have shown that exposure to tobacco smoke causing irritation and inflammation in the airways tends to reduce serum periostin concentrations in adults. We now investigate prospective cross-sectional study on 135 Korean students aged 7 years in the first grade who were participating in the Seongnam Atopy Project for Children's Happiness 2016 (SAP2016) cohort. To the best of our knowledge, this is the first study to show significant inverse correlations between serum periostin concentration and exposure to xylene and formaldehyde in children. Our findings suggested the need for caution in using the serum periostin level as a marker for allergic diseases, since exposure to volatile organic compounds and formaldehyde may confound the interpretation of these results.
Adult ; Child* ; Cohort Studies ; Cross-Sectional Studies ; Epidemiologic Studies ; Formaldehyde* ; Gyeonggi-do ; Happiness ; Humans ; Inflammation ; Prospective Studies ; Smoke ; Tobacco ; Volatile Organic Compounds* ; Xylenes

Methcathinone (MCAT) belongs to the designer drugs called synthetic cathinones, which are abused worldwide for recreational purposes. It has strong stimulant effects, including enhanced euphoria, sensation, alertness, and empathy. However, little is known about how MCAT modulates neuronal activity in vivo. Here, we evaluated the effect of MCAT on neuronal activity with a series of functional approaches. C-Fos immunostaining showed that MCAT increased the number of activated neurons by 6-fold, especially in sensory and motor cortices, striatum, and midbrain motor nuclei. In vivo single-unit recording and two-photon Ca²⁺ imaging revealed that a large proportion of neurons increased spiking activity upon MCAT administration. Notably, MCAT induced a strong de-correlation of population activity and increased trial-to-trial reliability, specifically during a natural movie stimulus. It improved the information-processing efficiency by enhancing the single-neuron coding capacity, suggesting a cortical network mechanism of the enhanced perception produced by psychoactive stimulants.
Mice ; Animals ; Reproducibility of Results ; Neurons ; Sensation ; Perception