Search results for "insufficiency"
showing 10 items of 506 documents
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
1999
SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …
Nrg1 haploinsufficiency alters inhibitory cortical circuits
2021
Neuregulin 1 (NRG1) and its receptor ERBB4 are schizophrenia (SZ) risk genes that control the development of both excitatory and inhibitory cortical circuits. Most studies focused on the characterization ErbB4 deficient mice. However, ErbB4 deletion concurrently perturbs the signaling of Nrg1 and Neuregulin 3 (Nrg3), another ligand expressed in the cortex. In addition, NRG1 polymorphisms linked to SZ locate mainly in non-coding regions and they may partially reduce Nrg1 expression. Here, to study the relevance of Nrg1 partial loss-of-function in cortical circuits we characterized a recently developed haploinsufficient mouse model of Nrg1 (Nrg1tm1Lex). These mice display SZ-like behavioral d…
Respiratory support techniques to avoid desaturation in critically ill patients requiring endotracheal intubation: A systematic review and meta-analy…
2017
Abstract Purpose To evaluate which respiratory support method for critically ill patients undergoing endotracheal intubation (ETI) is associated with less desaturation. Methods We searched PubMed, Cochrane Library, Scopus and CINAHL databases. We included randomized (RCT) and non-randomized (non-RCT) studies investigating any method of respiratory support before/during ETI compared to a reference control. Results Apneic oxygenation (ApOx) was the most commonly investigated respiratory support technique for critically ill patients undergoing intubation (4 RCTs, 358 patients). Three of these studies investigated high-flow nasal cannula (HFNC) for ApOx while standard nasal cannula was used in …
New perspectives in medically assisted procreation.
2008
Transthoracic electrical impedance during extracorporeal hemodialysis in acute respiratory failure ("Shocked Lung syndrome").
1980
The alteration (delta Z0) of transthoracic electrical impedance (TEI) during extracorporeal hemodialysis (EHD) was investigated in two Groups of patients with acute renal and acute respiratory failure, that differed with respect to the severity of respiratory insufficiency. Group I had moderate respiratory failure (FiO2 0.31 +/- 0.10, PaO2 84 +/- 14 mmHg), and Group II had severe respiratory failure (FiO2 0.75 +/- 0.17, PaO2 77 +/- 14 mmHg). There was a significant correlation between increase in TEI (delta Z0) and decrease in body weight (delta BW) in each individual patient, but the slope of regression lines was remarkably flattened in Group II. In Group I, delta TEI was 1.9 +/- 0.9 omega…
Objective, Noninvasive Evaluation of Velopharyngeal Function in Cleft and Noncleft Patients
1998
Objective The purpose of this study was to investigate a new diagnostic method that provides an approach to noninvasive, objective measurement of velopharyngeal movement by acoustic determination of epipharyngeal volume changes with velopharyngeal muscle function. Design This was a case control study, using consecutive samples. Setting This study took place at the Cleft Palate Rehabilitation Center of the University of Mainz, Germany. Patients Subjects were 29 consecutive cleft lip and palate (CLP) patients and 31 controls (21 patients with dysgnathia and 10 healthy volunteers). Intervention A series of transnasal acoustic measurements (pressure wave: 55 dB for 2 milliseconds) of epipharyng…
Diastolic function in chronic renal insufficiency
2006
Diastolic function in hypertensives with chronic renal insufficiency and without left ventricular hypertrophy.
2006
Ocena zależności pomiędzy objawami klinicznymi przewlekłej niewydolności żylnej i ultrasonograficznymi cechami refluksu żylnego u chorych z żylakami …
2001
Wstęp: Celem badania było porównanie objawów klinicznych przewlekłej niewydolności żylnej ze stopniem nasilenia refluksu żylnego, stwierdzanym w badaniu ultrasonograficznym u chorych z żylakami kończyn dolnych. Materiał i metody: Badaniu poddano 50 chorych — 100 kończyn dolnych: 23 kończyny bez żylaków (w tych przypadkach żylaki występowały na drugiej kończynie), 13 kończyn z żylakami, które nie powodowały dolegliwości, 49 kończyn z żylakami, którym towarzyszył obrzęk i/lub dolegliwości bólowe, 15 kończyn z żylakami z towarzyszącymi zmianami skórnymi (z wyjątkiem owrzodzenia). Przeprowadzono ultrasonograficzną (USG Duplex-Doppler) ocenę refluksu w żyłach: udowej, podkolanowej, piszczelowej …
Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas
2019
<b><i>Background:</i></b> Noninvasive mechanical ventilation (NIV) is an effective treatment in patients with neuromuscular diseases (NMD) to improve symptoms, quality of life, and survival. <b><i>Summary:</i></b> NIV should be used early in the course of respiratory muscle involvement in NMD patients and its requirements may increase over time. Therefore, training on technical equipment at home and advice on problem solving are warranted. Remote monitoring of ventilator parameters using built-in ventilator software is recommended. Telemedicine may be helpful in reducing hospital admissions. Anticipatory planning and palliative care should be …