Comparative transcriptome and metabolome profiles of the leaf and fruits of a Xianjinfeng litchi budding mutant and its mother plant.

Background: Litchi (Litchi chinensis) is an important sub-tropical fruit in the horticulture market in China. Breeding for improved fruit characteristics is needed for satisfying consumer demands. Budding is a sustainable method for its propagation. During our ongoing breeding program, we observed a litchi mutant with flat leaves and sharp fruit peel cracking in comparison to the curled leaves and blunt fruit peel cracking fruits of the mother plant. Methods: To understand the possible molecular pathways involved, we performed a combined metabolome and transcriptome analysis. Results: We identified 1,060 metabolites in litchi leaves and fruits, of which 106 and 101 were differentially accumulated between the leaves and fruits, respectively. The mutant leaves were richer in carbohydrates, nucleotides, and phenolic acids, while the mother plant was rich in most of the amino acids and derivatives, flavonoids, lipids and organic acids and derivatives, and vitamins. Contrastingly, mutant fruits had higher levels of amino acids and derivatives, carbohydrates and derivatives, and organic acids and derivatives. However, the mother plant's fruits contained higher levels of flavonoids, scopoletin, amines, some amino acids and derivatives, benzamidine, carbohydrates and derivatives, and some organic acids and derivatives. The number of differentially expressed genes was consistent with the metabolome profiles. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway-enriched gene expressions showed consistent profiles as of metabolome analysis. Conclusion: These results provide the groundwork for breeding litchi for fruit and leaf traits that are useful for its taste and yield.

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

BACKGROUND: Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%. Furthermore, familial HSCR patients show incomplete dominance. We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families. METHODS: To find published references, we used the title/abstract terms "Hirschsprung" and "familial" in the PubMed database and the MeSH terms "Hirschsprung" and "familial" in Web of Science. Finally, we summarized 129 HSCR families over the last 40 years. RESULTS: The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR. The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. When one of the parents is a RET mutation carrier in an HSCR family, the offspring's recurrence risk is 28%, and the incidence of the offspring does not depend on whether the parent suffers from HSCR. CONCLUSION: Our findings will help HSCR patients obtain better genetic counseling, calculate the risk of recurrence, and provide new insights for future pedigree studies.

[Readmission of children with bronchopulmonary dysplasia in the first 2 years of life: a clinical analysis of 121 cases].

OBJECTIVE: To investigate the clinical features of readmitted children with bronchopulmonary dysplasia (BPD) in the first 2 years of life. METHODS: A retrospective analysis was performed for the clinical data of 242 children with BPD who were readmitted due to recurrent lower respiratory tract infection (LRTI) in the first 2 years of life. RESULTS: Among all the 242 children with BPD, 115(47.5%) had wheezing, and the children aged 1-2 years had a significantly higher incidence rate of wheezing than those aged less than 1 year (P<0.05). Chest imaging was performed for 193 children, among whom 31 (16.1%) had hyperlucent areas. Pulmonary function examination showed that the BPD children had significantly lower TV/kg, TPEF/TE, VPEF/VE, TEF50 and TEF75, and significantly higher respiratory rate than the controls without respiratory disease (P<0.05). Bronchoscopy was performed for 28 children, among whom 21 (75%) had airway dysplasia. All the 242 children used inhaled corticosteroids (ICS) and experienced no treatment-related adverse reactions. Six children were given intravenous infusion of human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) and experienced no infusion-related events or adverse reactions, among whom one child successfully stopped oxygen therapy. CONCLUSIONS: The incidence rate of wheezing increases with the increase in age in children with BPD who are readmitted due to LRTI. Pulmonary function examination shows small airway obstruction, reduced expiratory flow rate in case of low lung capacity, and increased respiratory rate, and most children have airway dysplasia. ICS can be used to inhibit inflammatory response in the acute stage. Infusion of hUCB-MSCs is safe and feasible and may bring some benefits to the recovery from BPD.