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Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.
As we know, Good Woman of Setzuan is one of Brecht's masterpieces. I analyze this work from two theoretical perspectives. One is Freud, the other is Althusser and Baudrilliard. In this work, Shen Te, the protagonist, is a young and kind woman. But she does not know how to live in the real world. According to H. Sokel, she is in 'the imaginary state'. In order to live in the capitalistic world, she needs another self who is in 'the symbolic state'. Therefore she makes Shui Ta. Shui Ta, Shen Te's pseudo-self, is as cold as stone. He is a character appropriate for 'the symbolic world'. After all, he succeeds in his undertaking. We can imagine characters of Good Woman of Setzuan as dialectic. Shen Te is 'thesis' and Shui Ta is 'anti-thesis'. Also we can expect the third self which did not come into being until. S/he comes from future as 'synthesis'. In other aspect, we can read this work as a story of human(subject) warring against goodness(ideology). In the work, three gods(moral ideology) are incarnated into Shen Te. And then, Shen Te invents Shui Ta as a 'simulacre'. Shen Te emancipate herself from moral ideology and her dreadful identity through strategic 'simulation'. On Althusser's theory of ideology, there is no subject free from ideology. But we may look forward to a new fighting strategy against ideology not under the rule of moral or of rationality but under the rule of simulation. Looking for a solution to human existence problem, we must keep exploring for not old ways, but new ways all the time.
Intrabronchial nerilemmoma is very rare disease. Neurilemmoma has been thought to arise from schwann cell, has been reported to occur in almost any anatomic location. The incidence of primary neurogenic tumors of the lung has been estimated to be 0 to 2 percent of all lung tumors. These tumors are predominantly(75%) associated with neurofibromatosis of von Recklinghausen's disease. To our knowledge, no case of benign solitary endobronchial neurilemmoma has been reported in Korea. This paper presents a case of benign solitary endobronchial neurilemmoma with a brief review of the pertinent literature. A 19 year old female visited our medical hospital with the symptoms of chest discomfort and pain. Bronchoscopy and chest CT scan revealed a mass on the left upper 1obar bronchus. Left upper lobectomy was performed successfully and histological section revealed a neurilemmoma.
High capacitance X5R MLCCs based on BaTiO3 ceramic dielectric layers exhibit a single broad, asymmetric arc shape impedance and modulus response over the wide frequency range between 1 MHz to 0.01 Hz. Analysis according to the conventional brick-layer model for polycrystalline conductors employing a series connection of multiple RC parallel circuits leads to parameters associated with large errors and of little physical significance. A new parametric impedance model is shown to satisfactorily describe the experimental spectra, which is a parallel network of one resistor R representing the DC conductivity thermally activated by 1.32 eV, one ideal capacitor C exactly representing bulk capacitance, and a constant phase element (CPE) Q with complex capacitance A(iω)α−1 with α close to 2/3 and A thermally activated by 0.45 eV or ca. 1/3 of activation energy of DC conductivity. The feature strongly indicate the CK1 model by J. R. Macdonald, where the CPE with 2/3 power-law exponent represents the polarization effects originating from mobile charge carriers. The CPE term is suggested to be directly related to the trapping of the electronic charge carriers and indirectly related to the ionic defects responsible for the insulation resistance degradation.