A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene.

The mutations in the ABCA3 (ATP-binding cassette transporter subfamily A member 3) gene could result in lethal respiratory distress syndrome (RDS) in neonates and interstitial lung disease (ILD) in infants and children. Here, we describe a full-term newborn who manifested respiratory distress 20 min after birth and then gradually developed hypoxemic respiratory failure and died on 53 days of life. A homozygous missense mutation (c.746C >T) was identified in exon 8 of ABCA3 gene in the neonate by next-generation sequencing, and the mutations were inherited from parents, respectively. This homozygous mutation is the first reported to date.

Epidemiology and clinical characteristics of pathogens positive in hospitalized children with segmental/lobar pattern pneumonia.

BACKGROUND: The occurrence of segmental/lobar pattern pneumonia (S/L-PP) in children has recently increased. The pathogens of the disease may change for the misuse of antibiotics and the application of vaccines. Therefore, pathogens positive in hospitalized children with S/L-PP and their association with clinical characteristics may have changed. The aim of this study was to analyze the pathogens positive in hospitalized children with S/L-PP and their association with clinical characteristics. METHOD: The current study analyzed the epidemiological and clinical characteristics of pathogens positive in children with S/L-PP under 14 years old at a single hospital between 1st Jan 2014 and 31st Dec 2018 retrospectively. The pathogens were detected by microbial cultivation, indirect immunofluorescence of the kit (PNEUMOSLIDE IgM), Elisa, and/or real-time PCR in the samples of the patients. RESULTS: A total of 593 children with S/L-PP received treatment at a single hospital during the study period by inclusion criteria. Four hundred fifty-one patients were single positive for one pathogen and 83 patients were positive for at least 2 pathogens. Mycoplasma pneumoniae (M.pneumoniae) (72.34%) was the most commonly detected pathogen, followed by Streptococcus pneumoniae (S.pneumoniae) (8.77%). The prevalence of M.pneumoniae in children with S/L-PP increased with time (p < 0.05). The positive rate of M.pneumoniae increased with ages of patients (p < 0.05). M.pneumoniae was statistically associated with the extrapulmonary manifestations while S.pneumoniae was statistically associated with abnormal white blood cells (WBCs) and C reactive proteins (CRPs) (p < 0.05). CONCLUSION: M.pneumoniae was the most positive pathogen in children with S/L-PP. The positive rate of M.pneumoniae in children with S/L-PP increased with time and the ages of children. M.pneumoniae was associated with extrapulmonary manifestations while S.pneumoniae was associated with abnormal WBCs and CRPs.

Soyasapogenol B Attenuates Laryngeal Carcinoma Progression through Inducing Apoptotic and Autophagic Cell Death.

Soyasapogenol B (Soy B), a constituent of soybean, has been shown to exhibit antitumor activities against different types of cancers. However, to our knowledge, no studies so far have investigated the effect of Soy B in human laryngeal carcinoma. This study, therefore, aimed to determine the effect of Soy B in human laryngeal carcinoma cell lines HeP-2 and TU212 and to elucidate the possible underlying mechanisms by which Soy B can induce its antitumor effects. The results showed that Soy B effectively attenuated the cell growth by causing G0/G1 phase cell cycle arrest in laryngeal carcinoma cell lines. Moreover, the percentage of apoptotic and autophagic cells dramatically increased upon exposure to Soy B. Western blotting results confirmed that Soy B can alter the expression levels of established markers of apoptosis and autophagy. Interestingly, both apoptosis inhibitor (ZVAD-fmk) and autophagy inhibitor (3-MA) could partially reverse the effect of Soy B, while blocking autophagy did not cause obvious alteration in the percentage of apoptotic cells. Similarly, in vivo studies validated that Soy B could effectively reduce the size of the tumor and induce apoptosis and autophagy in tumor tissues. Collectively, these results suggested that Soy B can exert anticancer activities against laryngeal carcinoma through inducing apoptotic and autophagic cell death. Our study highlighted the potential role of Soy B as a chemotherapeutic agent for laryngeal carcinoma. Anat Rec, 2019. © 2019 American Association for Anatomy Anat Rec, 303:1851-1858, 2020. © 2019 American Association for Anatomy.

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.

Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine death, or neonatal distress and rapid death after birth. Here, we present a premature neonate with GD whose main clinical manifestations included intrauterine growth retardation, anasarca, facial dysmorphia, ichthyosis, respiratory distress, hepatosplenomegaly, joint contractures, myoclonus, refractory thrombocytopenia, anemia, elevated levels of liver enzymes, bile acid and direct bilirubin, cholestasis, pulmonary hypoplasia, intracranial hemorrhage, and abnormal electroencephalogram. The activity of ß- glucocerebrosidase was 0 in the peripheral white blood cells of the neonate. The sequencing analysis identified the presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10, with the latter first observed to be associated with PLGD. This infant died at 73 days of age.

The Zuckerman-Kuhlman personality questionnaire in bipolar I and II disorders: a preliminary report.

Patients with bipolar disorder have tendencies of higher impulsivity and sensation seeking, they might contribute differently to the emotional states of bipolar I (BD I) and II (BD II). We administered the Zuckerman-Kuhlman Personality Questionnaire (ZKPQ), the Plutchik-van Praag Depression Inventory (PVP), the Mood Disorder Questionnaire (MDQ), and the Hypomania Checklist (HCL-32) in 23 patients with BD I, 22 BD II, and 64 healthy volunteers. Both BD I and II scored higher on ZKPQ Impulsive sensation seeking (and its Impulsivity facet), Neuroticism-anxiety and Aggression-hostility, and on PVP and HCL-32 scales than controls did; BD I scored higher on MDQ and General sensation seeking facet than controls did. Compared to BD II, BD I scored higher on Impulsive sensation seeking (and General sensation seeking) and on MDQ. Moreover, General sensation seeking predicted MDQ, and Activity predicted HCL-32 in BD I. Aggression-hostility predicted HCL-32 in BD II. General sensation seeking predicted MDQ and HCL-32, and together with Neuroticism-anxiety, predicted PVP in controls. Our study suggests that Impulsive sensation seeking, and its General sensation seeking facet might help to delineate the two types of bipolar disorder.

[Association of breastfeeding with behavioral problems and temperament development in children aged 4-5 years].

OBJECTIVE: Childhood behavioral problems can predict future psychiatric disorders. Temperament development is important for a healthy personality in adulthood. This study investigated whether breastfeeding is associated with the occurrence of behavioral problems and the temperament development in preschool children. METHODS: A total of 737 children (399 boys and 338 girls) aged 4-5 years in Zibo City were recruited by stratified random cluster sampling. They were born at term with a birth weight of >/= 2.5 kg. The feeding patterns and the breastfeeding duration in infancy were collected. Behavioral and temperament developments were investigated by the Achenbach Child Behavior Checklist (CBCL), temperament questionnaire for 3-7-year-old children and a self-designed inventory questionnaire. The association of feeding patterns and the breastfeeding duration with behavioral problem occurrence and the temperament development in children were analyzed by a multivariate non-conditional logistic regression analysis and a multivariate stepwise regression analysis. RESULTS: After controlling for confounding variables, such as family income and parental education levels, it was found that a breastfeeding duration of >/= 9 months was a protective factor against behavioral problem occurrence in boys (OR=0.184). In girls, a breastfeeding duration of >/= 9 months was also a protective factor against behavioral problem occurrence (OR=0.165), while a mixed feeding with more breast milk and less formula milk was a risk factor (OR=2.203). The factors influencing temperament development consisted of exclusive formula feeding and the duration of breastfeeding (lasting for 4-6 months or 7-9 months) as well as a mixed feeding (with more formula milk and less breast milk, more breast milk and less formula milk, or equal amount of both). CONCLUSIONS: The fewer amounts and the shorter duration of breastfeeding are risk factors for behavioral problems occurrence in children aged 4-5 years. Children's temperament development is correlated with the feeding patterns and the breastfeeding duration.