Получение полуизолирующего кремния для высоковольтных приборов

Исследовано влияние условий осаждения на структуру и электрофизические свойства пленок поликристаллического кремния, легированного кислородом. Результаты использованы при изготовлении изделий силовой электроники

Thiazide Responsiveness Testing in Patients With Renal Magnesium Wasting and Correlation With Genetic Analysis: A Diagnostic Test Study

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Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

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Polycystic liver disease genes: Practical considerations for genetic testing

The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). Respectively two and one genes mainly cause ADPKD and ARPKD. In contrast, ADPLD is caused by at least six different genes which combined do not even explain the disease development in over half of the ADPLD population. Genetic testing is mainly performed to confirm the likelihood of developing PKD and if renal therapy is essential. However, pure ADPLD patients are frequently not genetically screened as knowledge about the genotype-phenotype correlation is currently limited. This paper will clarify the essence of genetic testing in ADPLD patients

Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia.

Contains fulltext : 50533.pdf (publisher's version ) (Closed access)Radiologic criteria are commonly used to diagnose femoral trochlear dysplasia causing patellofemoral (sub)luxations. A dysplastic trochlea can be identified on conventional radiographs when the line of the trochlear groove crosses the anterior border of one or both condyles. The aim of this study was to establish the influence of rotation on the precision of these radiographic criteria as classified on a true lateral conventional radiograph. In a radiological in vitro study using two different distal femurs we found that rotation deviations of the distal femur can simulate femoral trochlear dysplasia in a normal knee. In case of trochlear dysplasia, rotational deviations can simulate a normal trochlear shape with crossing of the trochlear groove with the anterior border of the femoral condyle. Even a rotation deviation of 5 degrees can cause a false-positive or false-negative diagnosis. We recommend the use of fluoroscopy to obtain a true lateral view (with both condyles overlapping on the posterior side) in order to correctly classify trochlear dysplasia and would strongly urge that no surgery should be performed on the basis of rotated conventional radiographs

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Contains fulltext : 47659.pdf (publisher's version ) (Closed access)Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and bone formation along endochondral ossification pathways, and growth. Several human genes that are important for patella development have been uncovered by the study of human limb malformation syndromes, yet causative genes for many more such disorders await to be identified and their complex interactions in the developmental pathways deciphered. Mutant animal models of congenital patellar aplasia or hypoplasia are certainly instrumental to create more insight into this aspect of limb development. Moreover, investigation of the complete phenotype of human syndromes and animal models may reveal novel insights into the pleiotropic roles of the responsible genes in the normal developmental of other organ systems. In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome

Genetic, environmental, and epigenetic factors involved in CAKUT.

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Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)

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