Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure

BACKGROUND: Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency. The mechanisms that give rise to spontaneous premature ovarian failure are largely unknown, but many reports suggest a genetic mechanism in some cases. The small family size associated with infertility makes genetic linkage analysis studies extremely difficult. Another approach that has proven successful has been to examine candidate genes based on known genetic phenotypes in other species. Studies in mice have demonstrated that c-kit, a transmembrane tyrosine kinase receptor, plays a critical role in gametogenesis. Here we test the hypothesis that human KIT mutations might be a cause of spontaneous premature ovarian failure. METHODS AND RESULTS: We examined 42 women with spontaneous premature ovarian failure and found partial X monosomy in two of them. In the remaining 40 women with known 46,XX spontaneous premature ovarian failure we evaluated the entire coding region of the KIT gene. We did this using polymerase chain reaction based single-stranded conformational polymorphism analysis and DNA sequencing. We did not identify a single mutation that would alter the amino acid sequence of the c-KIT protein in any of 40 patients (upper 95% confidence limit is 7.2%). We found one silent mutation at codon 798 and two intronic polymorphisms. CONCLUSION: Mutations in the coding regions of the KIT gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women

Advances in short bowel syndrome: an updated review

Short bowel syndrome (SBS) continues to be an important clinical problem due to its high mortality and morbidity as well as its devastating socioeconomic effects. The past 3 years have witnessed many advances in the investigation of this condition, with the aim of elucidating the cellular and molecular mechanisms of intestinal adaptation. Such information may provide opportunities to exploit various factors that act as growth agents for the remaining bowel mucosa and may suggest new therapeutic strategies to maintain gut integrity, eliminate dependence on total parenteral nutrition, and avoid the need for intestinal transplantation. This review summarizes current research on SBS over the last few years.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47168/1/383_2005_Article_1500.pd

Nutritional therapy and infectious diseases: a two-edged sword

The benefits and risks of nutritional therapies in the prevention and management of infectious diseases in the developed world are reviewed. There is strong evidence that early enteral feeding of patients prevents infections in a variety of traumatic and surgical illnesses. There is, however, little support for similar early feeding in medical illnesses. Parenteral nutrition increases the risk of infection when compared to enteral feeding or delayed nutrition. The use of gastric feedings appears to be as safe and effective as small bowel feedings. Dietary supplementation with glutamine appears to lower the risk of post-surgical infections and the ingestion of cranberry products has value in preventing urinary tract infections in women

Intestinal intraepithelial lymphocyte derived angiotensin converting enzyme modulates epithelial cell apoptosis

Background & Aims : Intestinal adaptation in short bowel syndrome (SBS) consists of increased epithelial cell (EC) proliferation as well as apoptosis. Previous microarray analyses of intraepithelial lymphocytes (IEL) gene expression after SBS showed an increased expression of angiotensin converting enzyme (ACE). Because ACE has been shown to promote alveolar EC apoptosis, we examined if IEL-derived ACE plays a role in intestinal EC apoptosis.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/44361/1/10495_2005_Article_2138.pd

BARD: a global and regional validation burned area database

The FireCCI project is part of the European Space Agency's (ESA) Climate Change Initiative (CCI) programme. The project focuses on the Fire Disturbance Essential Climate Variable(ECV) and specifically on 'Burned Area' (BA) products. The main objective of the FireCCI project is the development and improvement of the burned area detection algorithms, including the product validation protocols. The FireCCI project has developed several global BA products: FireCCI31 and FireCCI41 based on MERIS data, FireCCI50 and the last version FireCCI51 based on MODIS data at 250 m spatial resolution (Chuvieco, et al., 2018; Lizundia-Loiola, et al., 2020). In addition, high resolution BA products have been produced for regional or continental scale (e.g. FireCCISFD11 (Roteta, et al., 2019) based on Sentinel-2 data, for Sub-Saharan Africa at 20 m spatial resolution, and FireCCIS1SA10 (Belenguer-Plomer, et al., 2019) derived from Sentinel-1 for 2017 for the Amazon basin in South America). Moreover, the FireCCI project has promoted the research on BA validation methodologies generating statistically rigorous protocols to implement the accuracy assessment of BA product according the CEOS LPVS stage 3 validation requeriments (Padilla, et al., 2014; 2015; 2017). As a result of this research and the BA product validation activities, several global and regional burned area reference datasets were generated and compiled to create a Burned Area Reference Database (BARD) for validation. Contributions from other international projects and researches as BAECV CONUS, BrFLAS, and NOFFI, have significantly increased the BARD database