Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.

BACKGROUND: Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D mutations are associated with pediatric pulmonary disorders. However, the relationship between the clinical courses of PH and the KMT2D mutation is reported in extremely few cases. Therefore, in this paper, a case was presented and previous literature was reviewed for better understanding of the correlation between pediatric PH and KMT2D mutations. CASE PRESENTATION: A 3-year-old girl was transferred to our center for severe cough, shortness of breath, fatigue and fever. Physical examination revealed facial deformities and growth retardation. Echocardiography showed a small atrial septal defect (ASD), and right heart catheterization indicated a significant increase in pulmonary vascular pressure and resistance. The genetic test suggested that she had a KMT2D gene mutation. The patient was finally diagnosed with KS. She was given targeted drugs to reduce pulmonary vascular pressure, but the effect was unsatisfactory. CONCLUSIONS: KS can be complicated with multiple organ malformations and dysfunction. With the progress of next generation sequencing, an increasing number of new phenotypes related to KMT2D mutations have been reported. A bold hypothesis is proposed in this article, that is, PH may be a new phenotype associated with KMT2D mutations. It is suggested that KS and PH should be differentiated from each other to avoid delayed diagnosis and treatment in clinical practice. There is no specific drug for KS treatment. The prognosis of children with inherited PH is usually poor, and lung transplantation may increase their survival rates.

Spatiotemporal analysis of esophageal cancer incidence in Huai’an: a study based on geographic information system / 中华疾病控制杂志

Objective To explore the spatiotemporal distribution pattern, and identify risk cluster of esophageal cancer in Huai’an City so as to provide evidence for control and prevention of esophageal cancer. Methods Data of esophageal cancer incidence at township level in Huai’an City from 2011 to 2015 was collected. Spatial autocorrelation and local indications of spatial autocorrelation (LISA) were implemented to evaluate the spatial pattern of esophageal cancer incidence. Spatial scan statistics was used to examine spatio-temporal clustering of risk areas. Results The average incidence of esophageal cancer in Huai’an from 2011 to 2015 was 67.12/10 million, the incidence of male was significantly higher than that of female. The results of Moran’s I values implyed the spatial autocorrelation at township level. The results of LISA indicated that there were local hot spots and cold spots. The significant high-risk clusters included townships in Huai’an County, Huaiyin County and Jinhu County. The low-risk clusters were located in the main urban area and Xuyi County. Conclusions There are significant spatio-temporal aggregation for the distribution of incidence of esophageal cancer in Huai’an City and same spatiotemporal high-risk clusters between male and female. Our findings have a foundation to explore the multi-factorial etiology of esophageal cancer and have vital practical value for health services and policies implementation.

[Dynamics of sap flow density in stems of typical desert shrub Calligonum mongolicum and its responses to environmental variables].

Independent measurements of stem sap flow in stems of Calligonum mongolicum and environmental variables using commercial sap flow gauges and a micrometeorological monitoring system, respectively, were made to simulate the variation of sap flow density in the middle range of Hexi Corridor, Northwest China during June to September, 2014. The results showed that the diurnal process of sap flow density in C. mongolicum showed a broad unimodal change, and the maximum sap flow density reached about 30 minutes after the maximum of photosynthetically active radiation (PAR) , while about 120 minutes before the maximum of temperature and vapor pressure deficit (VPD). During the studying period, sap flow density closely related with atmosphere evapor-transpiration demand, and mainly affected by PAR, temperature and VPD. The model was developed which directly linked the sap flow density with climatic variables, and good correlation between measured and simulated sap flow density was observed in different climate conditions. The accuracy of simulation was significantly improved if the time-lag effect was taken into consideration, while this model underestimated low and nighttime sap flow densities, which was probably caused by plant physiological characteristics.