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41.
11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency 下载免费PDF全文
Dorota Jurkiewicz Monika Kugaudo Anna Tańska Angelika Wawrzkiewicz‐Witkowska Agnieszka Tomaszewska Marzena Kucharczyk Agata Cieślikowska Elżbieta Ciara Małgorzata Krajewska‐Walasek 《Pediatrics international》2015,57(3):486-491
Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. 相似文献
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BACKGROUND--Shunt vessels were imaged and shunt flow was analysed by cross sectional and Doppler echocardiography in 12 patients who had had 14 shunt procedures (nine left Blalock-Taussig shunts, three right Blalock-Taussig shunts, one modified Waterston shunt, and one central shunt). METHODS--The shunt vessels were classified by echocardiography as uniformly patent, segmentally stenosed, and uniformly stenosed. These findings were compared with those of angiography. Also the peak flow velocities at the aortic and the pulmonary ends of the shunt vessels were measured by Doppler echocardiography and the ratio of these values was calculated for each shunt. RESULTS--Twelve (85.7%) of 14 shunt vessels were imaged along their entire length by cross sectional echocardiography. The two remaining shunt vessels were only partially imaged. In 10 patients who also had angiography the echocardiographic and angiographic images of the shunt vessels were identical. The ratio of the peak flow velocity measured at the aortic and the pulmonary ends of the shunt vessel was significantly larger in the segmentally stenosed shunt vessels than in the uniformly patent shunt vessels (p < 0.001). The ratio in the two shunt vessels only partially imaged by cross sectional echocardiography indicated that they were segmentally stenosed. CONCLUSION--The combination of cross sectional and Doppler echocardiography may be useful for determining either the patency or the morphology of an aortopulmonary shunt. 相似文献
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Agata Kujawa-Szewieczek Marcin Adamczak Katarzyna Kwiecień Sylwia Dudzicz Magdalena Gazda Andrzej Wi?cek 《Nutrients》2015,7(12):10179-10188
Background:
Lactobacillus plantarum 299v (LP299v) has been used in order to reduce gastrointestinal symptoms during antibiotic exposure. However, it remains controversial whether or not probiotics are effective in the prevention of Clostridium difficile infections (CDI) among patients receiving antibiotics. The aim of this study was to analyze the CDI among patients receiving antibiotics and hospitalized in the period before and after starting routine use of LP299v as a prevention of this infection. Methods: Among 3533 patients hospitalized in the nephrology and transplantation ward during a two-year period, 23 patients with CDI were diagnosed and enrolled in this retrospective study. Since November 2013, prevention of CDI with oral use of LP299v was performed in all patients treated with antibiotics and who were at a high risk of developing CDI. The observation period was divided into two twelve-month intervals before and after initiation of the use of LP299v as a prophylactic against CDI. Results: A significant (p = 0.0001) reduction of the number of cases of CDI was found after routinely using LP299v (n = 2; 0.11% of all hospitalized patients) compared with the previous twelve-month period of observation (n = 21; 1.21% of all hospitalized patients). Conclusions: Routine use of LP299v during treatment with antibiotics may prevent C. difficile infection in the nephrology and transplantation ward. 相似文献
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Klemen Dovc MD Michelle Van Name MD Barbara Jenko Bizjan PhD Ewa Rusak MD Claudia Piona MD Gul Yesiltepe-Mutlu MD Rosaline Mentink MD Giulio Frontino MD Maddalena Macedoni MD Sofia Helena Ferreira MD Joana Serra-Caetano MD Júlia Galhardo MD Julie Pelicand MD Francesca Silvestri MD Jennifer Sherr MD Agata Chobot MD Torben Biester MD for the ISPAD JENIOUS Group 《Diabetes, obesity & metabolism》2022,24(3):564-569
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Szleszkowski Łukasz Kadej Marcin Ogórek Rafał Thannhäuser Agata Dobrowolski Michał A. Jurek Tomasz 《International journal of legal medicine》2022,136(6):1829-1840
International Journal of Legal Medicine - It is extremely rare for table salt to be used to preserve a dead body in criminal cases. In the case presented here, after the death of his 85-year-old... 相似文献
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Mesenteric lymph nodes obtained at surgery from 36 patients with gastrointestinal tract cancer were studied by immunofluorescence for the presence of carcinoembryonic antigen (CEA). Granular deposits of CEA in a homogenous mixture with immunoglobulins and complement were detected in the activated germinal centers in 12 lymph nodes from 8 investigated cases. Identification of CEA in germinal centers was confirmed by blocking and absorbtion procedures. Successful elution of immunoglobulins and part of CEA content with a buffer known to dissociate antigen-antibody bonds suggested that these deposits represent CEA immune complexes. 相似文献