Search results for "insufficiency"
showing 10 items of 506 documents
MAINZ CONGENITAL BIRTH DEFECT MONITORING SYSTEM
1994
The two most important aims of tho Mainz Congenital Birth Defect Monitoring Syitem wore to find “incidence” rates and to took for etiological causes of congenital malformations. All babies born in Mainz underwent a standardized physical and sonographic examination. Anamnestic data of family history, enviromental factors, drug exposure etc. were collected. Using case controll studies we looked for special correlations between morphologic defects and anamnestic data as factors of risk. The relative risk was calculated as odds ratio. Results: In 1990 and 1991 we examinated 8430 newborns. 656 (7,8%) children had major and 2609 (31,1%) minor malformations. Systemic localisation of major defects:…
HSP70, the Key to Account for Erythroid Tropism of Diamond-Blackfan Anemia?
2015
Abstract Diamond-Blackfan anemia (DBA) was the first ribosomopathy identified and is characterized by a moderate to severe, usually macrocytic aregenerative anemia associated with congenital malformations in 50% of the DBA cases. This congenital rare erythroblastopenia is due to a blockade in erythroid differentiation between the BFU-e and CFU-e stages. The link between a haploinsufficiency in a ribosomal protein (RP) gene that now encompass 15 different RP genes and the erythroid defect is still to be fully defined. Recently, mutations in TSR2 and GATA1 genes have been identified in a few DBA families. The GATA1 gene encodes for the major transcription factor critical for erythropoiesis an…
GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency
2019
Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…
Helmet continuous positive airway pressure and prone positioning: A proposal for an early management of COVID-19 patients
2020
In late December 2019, clusters of patients with interstitial pneumonia of unknown cause were reported by some local health facilities in Wuhan (China). The Chinese Centre for Disease Control conducted an epidemiologic and etiologic investigation, leading to the identification of a novel coronavirus (SARS-CoV-2).1, 2 On March 11th, the World Health Organization (WHO) declared the novel coronavirus disease (COVID-19) a pandemic. In the area of Wuhan, COVID-19 mainly affected male patients (around 60%), with a median age of about 50 years; 40% of patients developed Acute Respiratory Distress Syndrome (ARDS) 5% requiring intensive care. The mortality rate was around 2%.3, 4 However, Grasselli …
Outcome of acute hypoxaemic respiratory failure: insights from the LUNG SAFE Study
2020
BackgroundCurrent incidence and outcome of patients with acute hypoxaemic respiratory failure requiring mechanical ventilation in the intensive care unit (ICU) are unknown, especially for patients not meeting criteria for acute respiratory distress syndrome (ARDS).MethodsAn international, multicentre, prospective cohort study of patients presenting with hypoxaemia early in the course of mechanical ventilation, conducted during four consecutive weeks in the winter of 2014 in 459 ICUs from 50 countries (LUNG SAFE). Patients were enrolled with arterial oxygen tension/inspiratory oxygen fraction ratio ≤300 mmHg, new pulmonary infiltrates and need for mechanical ventilation with a positive end-e…
Outcome after mitral valve operations with depressed left ventricular function.
2012
We retrospectively investigated 42 patients (27 men, 15 women; mean age, 67 years) with severe mitral valve incompetence and endstage cardiomyopathy (ejection fraction <30%) who were operated on between January 2002 and March 2009. Of these, 14 were in New York Heart Association class IV, and 27 were in class III. The etiology was ischemic in 18 patients and idiopathic dilated in 24. Mitral valve repair was performed in 25 patients, and 17 had mitral valve replacement. The mean logistic EuroSCORE was 33.41. The mean follow-up was 44.52 months. There were no perioperative deaths. Three patients died within 30 days postoperatively. Thirty-day mortality was lower than predicted by EuroSCOR…
Papillary muscle relocation and mitral annuloplasty in ischemic mitral valve regurgitation: midterm results.
2014
Objectives The surgical approach for ischemic mitral regurgitation remains unclear. Many studies are in favor of adding the subvalvular procedure to mitral annuloplasty to reduce recurrent mitral regurgitation. This study reports the clinical and echocardiographic outcomes of papillary muscle relocation combined with mitral annuloplasty.Methods From 2003, 115 patients with severe ischemic mitral regurgitation who underwent papillary muscle relocation plus nonrestrictive mitral annuloplasty and coronary artery bypass grafting were retrospective analyzed. Patients' mean age was 52 ± 12.8 years, New York Heart Association class III or IV was 71%, and preoperative left ventricular ejection frac…
Obstructive sleep apnea and chronic kidney disease: open questions on a potential public health problem
2018
To determine the relationship between obstructive sleep apnea (OSA) and chronic kidney disease (CKD). Previous population studies of the association are sparse, conflicting and confined largely to studies of administrative data.Cross-sectional analysis in unselected participants of the Men Androgens Inflammation Lifestyle Environment and Stress (MAILES) study, aged40 years. Renal data were available for 812 men without a prior OSA diagnosis who underwent full in-home polysomnography (Embletta X100) in 2010-2011. CKD was defined as an estimated glomerular filtration rate (eGFR)60 mL/min/1.73m2 or eGFR≥60 and albuminuria (albumin-creatinine ratio ≥3.0 mg/mmol).CKD (10.5%, n = 85 [Stage 1-3, 9…
ERS clinical practice guidelines:high-flow nasal cannula in acute respiratory failure
2022
BackgroundHigh-flow nasal cannula (HFNC) has become a frequently used noninvasive form of respiratory support in acute settings; however, evidence supporting its use has only recently emerged. These guidelines provide evidence-based recommendations for the use of HFNC alongside other noninvasive forms of respiratory support in adults with acute respiratory failure (ARF).Materials and methodologyThe European Respiratory Society task force panel included expert clinicians and methodologists in pulmonology and intensive care medicine. The task force used the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) methods to summarise evidence and develop clinical recommendat…
Value of echocardiography in patient follow-up after surgically corrected type A aortic dissection.
2001
Background To identify patients (pts) at risk of late complications, follow-up after surgery for type A aortic dissection is essential. We assessed the value of echocardiography to monitor patients after surgery for type A aortic dissection. Methods 80 out of 108 pts operated between 1989 and 1999 for type A aortic dissection survived surgery. 62 pts with at least one TEE, CT or MRI examinations during follow-up were included in this study. All pts had transthoracic echocardiography (TTE), 53 transesophageal echocardiography (TEE), 51 had CT, and 39 had MRI. Results At the first follow-up, 12 of 48 pts with aortic valve sparing surgery presented with aortic insufficiency >I degrees detected…