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Tekin M Kavaz A Berberoğlu M Fitoz S Ekim M Ocal G Akar N 《American journal of medical genetics. Part A》2004,(3):284-287
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. 相似文献
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Langerhans dendritic cells are antigen presenting cells (APC) that reside within the epidermis and are capable of stimulating naive T cells. Reciprocally, lymphocytes may play a role in Langerhans cells (LC) differentiation. Our results show that the differentiation of skin LC is unaffected in the absence of lymphocytes and/or signaling through the common cytokine receptor gamma chain (gammac) required for IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21 signaling. Migration of LC and other dendritic cells (DC) from the skin to the draining lymph nodes (LNs) after FITC skin sensitization, is unaffected in the absence of lymphocytes or CD40. FITC+ LC/DC sorted from the LNs of lymphoid deficient or control mice stimulated naive T cells with similar efficiency. However, while the absence of lymphocytes did not appear to affect the phenotype or number of emigrating LN DC/LC, their persistence in the LN appears to depend on alphabeta T cells. Thus, DC are strikingly reduced in numbers in the peripheral LNs of T-cell deficient mice. Finally, CD8alpha expression on skin emigrants was low and dependent on the presence of CD8+ lymphocytes, while spleen CD8+ DC were present in the absence of lymphocytes. We conclude that the presence of T cells is not required for the differentiation and migration of resident skin DC but is critical for the maintenance of DC and LC migrating into the LNs. 相似文献
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Interaction between a peroxisome proliferator-activated receptor gamma gene polymorphism and dietary fat intake in relation to body mass 总被引:5,自引:0,他引:5
Memisoglu A Hu FB Hankinson SE Manson JE De Vivo I Willett WC Hunter DJ 《Human molecular genetics》2003,12(22):2923-2929
The peroxisome proliferator-activated receptor gamma (PPAR gamma) is a critical regulator of adipogenesis. PPAR gamma+/- mice are resistant to high-fat diet-induced obesity and thus PPAR gamma may mediate physiological responses to dietary fat in other mammals. The aim of this study was to determine whether the human PPAR gamma proline to alanine substitution polymorphism (Pro12Ala) modifies the association between dietary fat and adiposity and plasma lipids. Subjects (n=2141) were controls selected for three case-control studies nested within the Nurses' Health Study, a large ongoing prospective cohort study. Associations between intake of total fat, fat subtypes and BMI were different in PPAR gamma 12Ala variant allele-carriers compared with non-carriers. Among homozygous wild-type Pro/Pro individuals, those in the highest quintile of total fat intake, had significantly higher mean body mass index (BMI) compared with those in the lowest quintile (27.3 versus 25.4 kg/m2, respectively; P-trend<0.0001) whereas among 12Ala variant allele-carriers there was no significant trend observed between dietary fat intake and BMI (P-trend=0.99; P-interaction=0.003). In contrast, intake of monounsaturated fat was not associated with BMI among homozygous wild-type women but was inversely associated with BMI among 12Ala variant allele-carriers (mean in lowest quintile=27.6 versus mean in highest quintile=25.5 kg/m2; P-trend=0.006; P-interaction=0.003). The relationship between dietary fat intake and plasma lipid concentrations also differed according to PPAR gamma genotype. These data suggest that PPAR gamma genotype is an important factor in physiological responses to dietary fat in humans. 相似文献
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Gonenc Kocabay MD Serdar Yilmazer MD Yetkin Korkmaz MD Asli Karadeniz MD Nilufer Eksi Duran MD 《Echocardiography (Mount Kisco, N.Y.)》2017,34(1):141-142
We report a case of cyst was initially labeled as left ventricular noncompaction cardiomyopathy. An accurate diagnosis is essential to establish the most effective treatment strategy. In particular, echocardiographic examination assists in identifying the correct diagnosis. In this case, two‐dimensional and three‐dimensional echocardiography and computed tomography were used for definitive diagnosis of cardiac hydatid cyst. 相似文献
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Uyar ME Turkay C Erbayrak M Koktener A 《The American journal of the medical sciences》2008,336(1):81-83
Eosinophilia associated with tumors is extremely rare. The exact underlying pathogenetic mechanisms are not well understood; limited data have been reported about granulocyte colony-stimulating factor and interleukin-5 in the development of eosinophilia. We report a patient with marked eosinophilia, leukocytosis, and eosinophilic colitis presenting with bloody stool. The subsequent diagnosis was advanced high-grade transitional cell carcinoma of the bladder. Leukocyte count, eosinophil count, and colonoscopic findings returned to normal after surgical removal of the tumor. To our knowledge, eosinophilic colonic infiltration as a manifestation of transitional cell bladder carcinoma has not been previously reported. 相似文献
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Mehmet Rasih Sonsoz Aytac Oncul Erdem Cevik Huseyin Orta Mustafa Yilmaz Elif Ayduk Govdeli Asli Nalbant Zeynep Gizem Demirtakan Mirac Tonyali Damla Durmus Ilkay Anakli Ozlem Polat Yunus Catma Naci Senkal Alpay Medetalibeyoglu Murat Kose Samim Emet Tufan Tukek 《The American journal of the medical sciences》2021,361(5):591-597
BackgroundThe information on electrocardiographic features of patients with coronavirus disease 2019 (COVID-19) is limited. Our aim was to determine if baseline electrocardiographic features of hospitalized COVID-19 patients are associated with markers of myocardial injury and clinical outcomes.MethodsIn this retrospective, single center cohort study, we included 223 hospitalized patients with laboratory-confirmed COVID-19. Clinical, electrocardiographic and laboratory data were collected and analyzed. Primary composite endpoint of mortality, need for invasive mechanical ventilation, or admission to the intensive care unit was assessed.ResultsForty patients (17.9%) reached the primary composite endpoint. Patients with the primary composite endpoint were more likely to have wide QRS complex (>120 ms) and lateral ST-T segment abnormality. The multivariable Cox regression showed increasing odds of the primary composite endpoint associated with acute respiratory distress syndrome (odds ratio 7.76, 95% CI 2.67–22.59; p < 0.001), acute cardiac injury (odds ratio 3.14, 95% CI 1.26–7.99; p = 0.016), high flow oxygen therapy (odds ratio 2.43, 95% CI 1.05–5.62; p = 0.037) and QRS duration longer than >120 ms (odds ratio 3.62, 95% CI 1.39–9.380; p = 0.008) Patients with a wide QRS complex (>120 ms) had significantly higher median level of troponin T and pro-BNP than those without it. Patients with abnormality of lateral ST-T segment had significantly higher median level of troponin T and pro-BNP than patients without.ConclusionsThe presence of QRS duration longer than 120 ms and lateral ST-T segment abnormality were associated with worse clinical outcomes and higher levels of myocardial injury biomarkers. 相似文献
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