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41.
Silvia Cannova Camilla Meossi Federico Grilli Donatella Milani Federica Alberti Claudia Cesaretti Paola Giovanna Marchisio Francesca Crosti Lidia Pezzani 《Clinical genetics》2024,105(3):313-316
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly – Tall stature – Scoliosis – Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo – Auricolo – Dento – Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome. 相似文献
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Diabetes mellitus and associated chronic hyperglycemia enhance the risk of acute ischemic stroke and lead to worsened clinical outcome and increased mortality. However, post-stroke hyperglycemia is also present in a number of non-diabetic patients after acute ischemic stroke, presumably as a stress response. The aim of this review is to summarize the main effects of hyperglycemia when associated to ischemic injury in acute stroke patients, highlighting the clinical and neurological outcomes in t... 相似文献
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Roberto Lorusso Samuel Heuts Federica Jiritano Roberto Scrofani Carlo Antona Guglielmo Actis Dato Paolo Centofanti Sandro Ferrarese Matteo Matteucci Antonio Miceli Mattia Glauber Enrico Vizzardi Sandro Sponga Igor Vendramin Andrea Garatti Carlo de Vincentis Michele De Bonis Silvia Ajello Giovanni Troise Margherita Dalla Tomba Filiberto Serraino 《Interactive Cardiovascular and Thoracic Surgery》2022,35(1)
Open in a separate window OBJECTIVESAlthough the intra-aortic balloon pump (IABP) has been the most widely adopted temporary mechanical support device in cardiac surgical patients, its use has declined. The current study aimed to evaluate the occurrence and predictors of early mortality and complication rates in contemporary cardiac surgery patients supported by an IABP.METHODSA multicentre, retrospective analysis was performed of all consecutive cardiac surgical patients receiving perioperative balloon pump support in 8 centres between January 2010 to December 2019. The primary outcome was early mortality, and secondary outcomes were balloon-associated complications. A multivariable binary logistic regression model was applied to evaluate predictors of the primary outcome.RESULTSThe study cohort consisted of 2615 consecutive patients. The median age was 68 years [25th percentile 61, 75th percentile 75 years], with the majority being male (76.9%), and a mean calculated 30-day mortality risk of 10.0%. Early mortality was 12.7% (n = 333), due to cardiac causes (n = 266), neurological causes (=22), balloon-related causes (n = 5) and other causes (n = 40). A composite end point of all vascular complications occurred in 7.2% of patients, and leg ischaemia was observed in 1.3% of patients. The most important predictors of early mortality were peripheral vascular disease [odds ratio (OR) 1.63], postoperative dialysis requirement (OR 10.40) and vascular complications (OR 2.57).CONCLUSIONSThe use of the perioperative IABP proved to be safe and demonstrated relatively low complication rates, particularly for leg ischaemia. As such, we believe that specialists should not be held back to use this widely available treatment in high-risk cardiac surgical patients when indicated. 相似文献
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This study aimed to assess the success of pulpotomy in primary molars using Biodentine, new-developed tri-calcium, di-calcium-based silicate cement, at 6 and 12 months. The hypothesis was that stages of root resorption could influence the treatment success. A novel composite score was used based on five clinical and radiographic outcomes: soft-tissue pathology, pain to percussion, pathologic mobility, radiolucency and pathologic root resorption. Patients’ compliance and intraoperative pain experience were recorded using the Frankl scale and the Wong–Baker scale. A total of 22 primary molars, 9 in stage S (stability) and 13 in stage R (resorption) were submitted to pulpotomy using Biodentine and restored with composite resin. The success rate was 92.3% in the R group compared to 100% in the S group at both 6 and 12 months (p = 0.850). There was no statistically significant effect of type of molar, tooth position and type of carious lesions on the composite outcome (all p > 0.05). Overall, 73% of the children experienced no or mild/moderate pain and 77% had a cooperative attitude. Children younger than 7 years old experienced more pain (p = 0.04). Biodentine is a promising biomaterial for pulpotomy of primary teeth regardless of the stage of root resorption. 相似文献
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Ambulatory pulse pressure, left ventricular hypertrophy and function in arterial hypertension 总被引:5,自引:0,他引:5
Rizzo V di Maio F Petretto F Marziali M Bianco G Barilla F Paravati V Pignata D Campbell SV Donato G Bernardo V Tallarico D 《Echocardiography (Mount Kisco, N.Y.)》2004,21(1):11-16
BACKGROUND: A wide pulse pressure (PP) can provide important risk assessment information about myocardial infarction, carotid artery atherosclerosis, and global cardiovascular risk. Ambulatory pulse pressure (APP) does not have a well-known prognostic value in hypertensive patients. METHODS:To evaluate the relationship among high APP, atrial volumes, and cardiac function, an observational study was performed on 108 untreated non-elderly hypertensive patients (mean age 54.23 +/- 7.12). Twenty-four-hour ambulatory blood pressure monitoring, Doppler and echocardiographic measurements of systolic, diastolic function, left and right atrial volumes, left ventricular mass index and dimensions, were performed in subjects with both clinic and APP > 60 mmHg (APP1 Group). A control group of hypertensive selected subjects with both clinic and APP < 60 mmHg was chosen (APP 2 Group). RESULTS: The APP1 group showed left atrial volume enlargement, high left ventricular mass index, and impaired diastolic function. A positive correlation was found in the APP1 group results among left ventricular end diastolic diameter (r = 0.39, P < 0.01), left atrial volume (0.38, P < 0.05), and left ventricular mass index (r = 0.33, P < 0.05); clinic PP showed a statistically significant correlation with left atrial volume, left ventricular end diastolic diameter, and left ventricular mass index only in the APP1 group. CONCLUSIONS: These results suggest that elevated APP can be considered an effective predictor of cardiovascular risk in hypertensive subjects. In these patients echocardiographic evaluation of left ventricular function and morphology can increase the prognostic value of PP. 相似文献
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Gianfranco Piccirillo MD PhD Federica Moscucci MD Claudia Di Iorio MD Marcella Fabietti MD Fabiola Mastropietri MD Davide Crapanzano MD Gaetano Bertani MD Teresa Sabatino MD Giulia Zaccagnini MD Ilaria Lospinuso MD Damiano Magrì MD PhD 《Pacing and clinical electrophysiology : PACE》2020,43(10):1096-1103
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Nguyen Minh Vu Chuong Courtier Anaïs Adrait Annie Defendi Federica Couté Yohann Baillet Athan Guigue Lisa Gottenberg Jacques-Eric Dumestre-Pérard Chantal Brun Virginie Gaudin Philippe 《Clinical rheumatology》2020,39(9):2553-2562
Clinical Rheumatology - Rheumatoid arthritis (RA) is a debilitating disease, but patient management and treatment have been revolutionized since the advent of bDMARDs. However, about one third of... 相似文献