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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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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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Gollu A Kismet K Kilicoglu B Erel S Gonultas MA Sunay AE Akkus MA 《Phytotherapy research : PTR》2008,22(9):1243-1247
In the present study, attempts have been made to determine the effects of honey on intestinal morphology, postoperative adhesions, and the healing of colonic anastomoses in the rats after colonic resection and anastomosis. Thirty-six rats were randomly divided into three groups each including 12 animals. Colonic resection and anastomosis were performed on all animals. Rats were fed with standard rat chow in group I, standard rat chow plus 10 g/kg/day honey in group II and artificial honey including the same caloric amount with honey in group III. Adhesion scores, bursting pressures and histopathological examinations were evaluated. Colonic bursting pressures of honey group were significantly better than control and artificial honey groups. Histological analysis of anastomotic site showed that submucosa and muscularis propria were nearly filled with granulation tissue and regular fibrin matrix in honey group. There was statistically significant difference between the adhesion scores of honey vs artificial honey and control groups. The scores of histological changes of ileum in honey group were significantly different from other groups. These results indicate a protective role of honey against intraabdominal adhesions and anastomotic dehiscence. 相似文献
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Twin-twin transfusion syndrome (TTTS) represents a pregnancy complication with a high risk for perinatal mortality and postnatal morbidity. Mathematical models have been utilized to examine the mechanisms of disease and potential treatment modalities. We developed four consecutive models based on pathophysiology mechanisms. Conceptually, these models remained simple, but with increased complexity in details. We present our models tutorially with the necessary equations expressed in words. The aetiology of TTTS was related to AV anastomoses from donor to recipient and their growth commensurate with placental growth. We assessed that natural growth of placenta and foetuses causes the diameter and length of the AV, as well as the AV's pressure gradient, to increase proportional to gestational age. The AV transfusion then increases faster than natural foetal growth. A progressively increasing discordance subsequently develops, not compensated for by foetal growth. A simulation is performed to show how this discordance in blood volumetric development causes successive discordances in other functions, particularly renal, circulatory, and cardio-vascular, resulting in disease progression to the various stages of TTTS. In conclusion, mathematical modelling of TTTS has provided an understanding of the sequence of events that leads to the various presentations of TTTS stages as well as the efficacy of therapies. 相似文献
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Nilüfer Aylin Acet
ztürk Asli G. Dilektasli
zge AydnGülü Ezgi Demirden Funda Cokun Ahmet Ursava Mehmet Karada Esra Uzaslan 《The clinical respiratory journal》2022,16(1):49
IntroductionEosinophilic airway inflammation is a recognized inflammatory pattern in subgroups of patients with chronic obstructive pulmonary disease (COPD). However, there are still conflicting results between various studies concerning the effect of eosinophils in COPD patients. Our aim with this study was to evaluate eosinophilic inflammation and its relation to the clinical characteristics in a group of COPD patients.MethodsStable COPD patients with FEV1% predicted < 50 or with ≥ 1 exacerbation leading to hospital admission or ≥2 moderate or severe exacerbation history were consecutively enrolled from outpatient clinics.ResultsWe included 90 male COPD patients, with a mean age of 63.3 ± 9.2. Mean FEV1% predicted was 35.9 ± 11.3. Eosinophilic inflammation (eosinophil percentage ≥2%) was evident in 54 (60%) of the patients. Participants with eosinophilic inflammation were significantly older and had better FEV1 predicted % values. Eosinophilic COPD patients were characterized with better quality of life and fewer symptoms. COPD patients with noneosinophilic inflammation used supplemental long‐term oxygen therapy (LTOT) more frequently compared to patients with eosinophilic inflammation (36.1% vs. 14.8%, p = 0.01). Eosinophilic inflammation is associated with less dyspnea severity measured by mMRC (OR: 0.542 95% CI: 0.342–0.859, p = 0.009) and less LTOT use (OR: 0.334 95% CI: 0.115–0.968, p = 0.04) regardless of age, severity of airflow limitation, and having frequent exacerbation phenotype.ConclusionOur study supports the growing evidence for a potential role of eosinophilic inflammation phenotype in COPD with distinctive clinical characteristics. Eosinophilic inflammation is inversely associated with dyspnea severity measured by mMRC and LTOT use independently from age, total number of exacerbations, St. George Respiratory Questionnaire (SGRQ) total score and FEV1% predicted. 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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Kaptan Yagmur Suner Asli Taş Mehmet Nedim Oksel Fahrettin Aksu Kenan Sayiner Abdullah 《Clinical rheumatology》2021,40(9):3783-3788
Clinical Rheumatology - Although latent tuberculosis infection (LTBI) treatment is given before anti-tumor necrosis factor (TNF) treatment, tuberculosis (TB) still develops in these patients and... 相似文献
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Helvaci M Kizilgunesler A Kasirga E Ozbal E Kuzu M Sozen G 《Journal of gastroenterology and hepatology》2004,19(7):785-791
BACKGROUND: Although interferon (IFN) has been approved in the treatment of chronic hepatitis B in children, it is effective only in 30-40% of patients. In some studies it has been suggested that therapeutic use of anti-hepatitis B virus (HBV) vaccine may be beneficial in patients with chronic hepatitis B. The aim of the present study was to compare the efficacy of hepatitis B vaccination and IFN-alpha-2b in combination and IFN-alpha-2b monotherapy in children with chronic hepatitis B. METHODS: Fifty treatment-naive children with chronic hepatitis B infection were randomly assigned to receive either 5 million units/m(2) recombinant IFN-alpha-2b subcutaneously three times per week for 9 months, and pre-S2/S vaccine at the beginning and 4 and 24 weeks after initiation of IFN therapy (n = 25) or recombinant IFN-alpha-2b (5 million units/m(2) subcutaneously thrice weekly) alone for 9 months (n = 25). Children were followed for at least 6 months after the end of therapy. RESULTS: There was no statistically significant difference in the mean alanine aminotransferase levels, histologic activity index and fibrosis scores between combination and IFN monotherapy groups at the end of the therapy and end of the follow-up period. When combination and monotherapy groups were compared, the mean HBV-DNA values were significantly reduced in combination group at the end of the therapy (P = 0.004), but no statistically significant difference was found at the end of the follow up. Sustained HBeAg seroconversion with clearance of HBV-DNA was obtained in 13 of 25 children (52%) treated with combination therapy, and in eight of 25 patients (32%) treated with IFN monotherapy (P = 0.251). CONCLUSION: Although the difference was statistically insignificant, the sustained response rates were better in the combination therapy group than in the monotherapy group. The potential benefit of combining IFN and hepatitis B vaccine should be investigated in further studies with different regimens of combination therapy. 相似文献