Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder FANCG PV, identified in three patients with FA from the Mixe community of Oaxaca, Mexico. All patients presented chromosomal instability and a homozygous PV, FANCG: c.511-3_511-2delCA, identified by next-generation sequencing analysis. Bioinformatic predictions suggest that this deletion disrupts a splice acceptor site promoting the exon 5 skipping. Analysis of Cytoscan 750 K arrays for haplotyping and global ancestry supported the Mexican origin and founder effect of the variant, reaffirming the high frequency of founder PV in FANCG. The degree of bone marrow failure and physical findings (described through the acronyms VACTERL-H and PHENOS) were used to depict the phenotype of the patients. Despite having a similar frequency of chromosomal aberrations and genetic constitution, the phenotype showed a wide spectrum of severity. The identification of a founder PV could help for a systematic and accurate genetic screening of patients with FA suspicion in this population. 相似文献
Temperature‐responsive PVCL homopolymers and functional PVCL polymers containing carboxylic acids are prepared in organic and aqueous solutions. PVCL bulk polymers are characterized using 1H NMR, photometry, ATR‐FTIR, and thermal analysis. A finite phase transition at 37–40 °C occurs in aqueous solutions of PVCL and PVCL‐COOH. PVCL and PVCL‐COOH polymers are electrospun into fibers ranging from 100 to 2300 nm in diameter. PVCL/cellulose bi‐component films are obtained by electrospinning of CA and PVCL followed by alkaline hydrolysis. These tunable thermo‐responsive PVCL/cellulose nanofibers have potential applications in developing affinity membranes.
Lentil (Lensculinaris var vulgaris) flour was naturally fermented for 96 h at various conditions of concentration (79, 150 and 221 g litre−1) and temperature (28°C, 35°C and 42°C). The content of total inositol phosphates (IP-total) and individual inositol phosphates (hexa- (IP6), penta- (IP5), tetra- (IP4) and tri- (IP3) phosphates) were analysed to establish the changes of these compounds during natural fermentation of lentils. The preparation of the lentil suspension brought about 16–27% reduction of the total inositol phosphates. At the end of 96 h of natural fermentation maximum IP loss (70–75%) was achieved for an experiment carried out at minimum concentration. For IP6, the largest decrease was achieved at the highest temperature, the fermentation condition that also brought about the highest IP5 content. 相似文献
Approximately 650,000 individuals will be released from incarceration in state and federal prisons this year. However, little is known about the challenges ex-offenders face when they endeavor to reenter the workforce. The authors used consensual qualitative research methods to analyze data from 2 focus groups: one for male (n=6) and another for female (n=9) nonviolent felony offenders, all of whom were receiving services at day reporting centers, which offer a nonresidential form of community corrections. Attendees discussed their reentry experiences, and 11 domains were identified, encompassing ex-offenders' needs for education, training, and practical assistance; challenges in obtaining and maintaining a job; and available support, including personal networks and resources from the correctional system. Findings suggest that counseling professionals should attend to ex-offenders' social networks, including social aspects of the workplace, as such networks can offer support or represent a liability for individuals in transition. Substance abuse issues impact ex-offenders' social viability as well as their career-related reentry attempts. Finally, career development practitioners should understand the internal and external impacts of the stigma associated with incarceration. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
Development of research methods requires a systematic review of their status. This study focuses on the use of Hierarchical
Linear Modeling methods in psychiatric research. Evaluation includes 207 documents published until 2007, included and indexed
in the ISI Web of Knowledge databases; analyses focuses on the 194 articles in the sample. Bibliometric methods are used to
describe the publications patterns. Results indicate a growing interest in applying the models and an establishment of methods
after 2000. Both Lotka’s and Bradford’s distributions are adjusted to the data. 相似文献
The kinetics of soluble sugars (available sugars and f-galactosides) during the action of naturally occurring endogenous f-galactosidase for up to 90 min in lentil and pea flours has been studied, and it has been compared with the addition of commercial f-galactosidase enzyme. Raw lentil and pea seeds presented sucrose, raffinose, stachyose and verbascose, whilst ciceritol was only present in lentils. No monosaccharides were detected in either of the raw seeds. After the action of endogenous f-galactosidase or by the addition of commercial f-galactosidase, fructose, glucose and galactose were detected in legume flours. The action of endogenous f-galactosidase for 15-90 min in lentils or peas produced a reduction of sucrose (77% and 73-81%), raffinose (73-77% and 59-79%), stachyose (76-81% and 77%) and verbascose (100% and 70-83%), respectively. When commercial f-galactosidase was added to lentils or peas the observed decreases were in sucrose (77-73% and 62-64%), raffinose (61-68% and 41-48%), stachyose (80-85% and 67-91%) and verbacose (100% and 77-95%) respectively. The action of endogenous f-galactosidase or the addition of commercial f-galactosidase could produce lentil or pea flours with very small flatulence factors and, therefore, with a high functionality. According to these data, the optimal conditions to obtain lentil and pea flour with the lowest f-galactoside content were the addition of commercial f-galactosidase at 37 ºC in buffer pH 5.5 for 90 min. In these conditions the largest contents in fructose, glucose, galactose and sucrose were obtained. 相似文献
We describe a case of double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis treated successfully with cardiopulmonary bypass. We consider the clinical history and angiocardiographic and surgical findings of this rare anomaly. We stress the difficulties of reconstruction of the outflow tract of the right ventricle, because of the anomalous pathway of the right coronary artery, the posterior situation of the pulmonary artery, and the abnormal anatomy present in the outflow tract of the right ventricle. 相似文献
The effect of chickpea processing (soaking, soaking plus cooking and dry heating) on the content of available carbohydrate
(monosaccharides, disaccharides and starch) and antinutritional factors (α-galactosides and trypsin inhibitor activity) was
studied. Soaking produced a reduction in available carbohydrates (19–20%) and α-galactosides (16–27%), and either did not
affect or caused a slight reduction of trypsin inhibitor activity (TIA) in chickpeas. Soaking plus cooking brought about a
larger decrease in available carbohydrates (23–24%) and α-galactosides (45–58%), and completely eliminated TIA. Dry heating
caused a 24% reduction in available carbohydrates, a 46% decrease in α-galactosides and a 27% decrease in TIA. Overall, cooking
the presoaked seeds in water, acidic or basic solution seems to be adequate to obtain a chickpea flour with a large reduction
in antinutritional factors (α-galactosides and TIA) and also a high level of available carbohydrate content.
Received: 22 April 1999 / Revised version: 28 June 1999 相似文献