Search results for "insufficiency"
showing 10 items of 506 documents
A potential role of interferon-gamma in the pathogenesis of venous leg ulcers.
2005
Venous leg ulcer is the most severe expression of chronic venous insufficiency. Venous ulcerations are always associated with venous ambulatory hypertension, but the exact mechanism leading from pathological hemodynamics in venous circulation to the necrotic lesions in the skin still remains undiscovered. It has been shown that tissue injury in venous ulcer patients was induced by leukocytes. However, though infiltrating leukocytes have at their disposal a powerfully cytotoxic arsenal, it has not been discovered which molecular mechanisms may contribute to the skin damage. The search for this hypothetical factor responsible for the development of ulceration should be focused on mechanisms l…
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.
2009
We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient’s 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter→q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal dia…
What is the relationship between chronic cerebrospinal venous insufficiency and multiple sclerosis?
2013
Abstract Although most of the research on multiple sclerosis was focused on its autoimmune aspects, researchers were also considering the roles of other factors, including vascular background of the disease. The idea that multiple sclerosis might be caused by stenoses of the veins draining the brain and spinal cord (the so-called chronic cerebrospinal venous insufficiency), is currently hotly debated by scientific community. Despite conflicting reports, chronic cerebrospinal venous insufficiency seems to be a real clinical phenomenon. However, it remains uncertain how it should be defined and which tests should be used for its detection. Probably this vascular abnormality should be primaril…
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020
Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…
Are near visual signs and symptoms in multiple sclerosis compatible with convergence insufficiency?
2021
Clinical relevance: Optometric management of neurodegenerative diseases is essential since visual signs, such as double vision, visual acuity reduction, or oculomotricity dysfunctions, are usually present in these subjects over the course of the disease. The present paper can guide clinicians in better managing their patients with multiple sclerosis. Background: Patients with multiple sclerosis present near vision symptoms that may be related to binocular anomalies, but these symptoms have not been investigated and related to specific signs. The aim of the present study was to evaluate the binocular vision in subjects with multiple sclerosis, and to analyse if the near visual signs and symp…
Noninvasive respiratory support in the hypoxaemic peri-operative/periprocedural patient: A joint ESA/ESICM guideline.
2020
Hypoxaemia is a potential life-threatening yet common complication in the peri-operative and periprocedural patient (e.g. during an invasive procedure at risk of deterioration of gas exchange, such as bronchoscopy). The European Society of Anaesthesiology (ESA) and the European Society of Intensive Care Medicine (ESICM) developed guidelines for the use of noninvasive respiratory support techniques in the hypoxaemic patient in the peri-operative and periprocedural period. The panel outlined five clinical questions regarding treatment with noninvasive respiratory support techniques [conventional oxygen therapy (COT), high flow nasal cannula, noninvasive positive pressure ventilation (NIPPV) a…
Erythrocytäre Anionenkonzentrationen bei renaler Insuffizienz
1966
In chronic renal insufficiency, concentrations of chloride and inorganic phosphate in human red blood cells are elevated. There is no correlation between serum non-protein nitrogen and the anionic concentrations of red blood cells. Positive correlations exist between corresponding cellular and extracellular anionic concentrations.
Hypogonadotrophic Pituitary Insufficiency in Transfusional Hemochromatosis Complicating Thalassemia Major: MR Imaging
1999
To identify pituitary iron overload in patients with transfusion-dependent thalassemia major causing secondary hypogonadism, we prospectively evaluated signal intensity abnormalities of the anterior lobe of the pituitary gland of 30 patients comparing spin-echo, gradient-echo imaging and pituitary T2 relaxation times measurement. We found that pituitary iron overload can best be assessed by MR imaging using gradient-echo T2*-weighted technique to establish signal reduction in the anterior lobe of the pituitary gland. This finding is correlated to increasing serum ferritin level — a parameter that reflects the severity of iron overload, and is more evident in patients with secondary hypogon…
Imbalance of expression of bFGF and PK1 is associated with defective maturation and antenatal placental insufficiency.
2013
Abstract Objective Defective placental maturation is associated with restricted functional capacity and adverse perinatal fetal outcomes. The aim of the study was a comparative analysis of the role of mRNA expression of various angiogenic factors in placental maturation defects. Study design We examined the mRNA expression patterns of prokineticin 1 (PK1), its receptors (PKRs), basic-fibroblast growth factor (bFGF), vascular endothelial growth factor (VEGF) and placental growth factor (PlGF) in tissue from third-trimester placentae that exhibited delayed or accelerated villous maturation. Results The expression of PK1 and PKR2 was elevated in placental tissue exhibiting accelerated maturati…
Catheter venography for the assessment of internal jugular veins and azygous vein: position statement by expert panel of the International Society fo…
2013
This document by an expert panel of the International Society for Neurovascular Disease is aimed at presenting current technique and interpretation of catheter venography of the internal jugular veins, azygous vein and other veins draining the central nervous system. Although interventionalists agree on general rules, significant differences exist in terms of details of venographic technique and interpretations of angiographic pictures. It is also suggested that debatable findings should be investigated using multimodal diagnostics. Finally, the authors recommend that any publication on chronic cerebrospinal venous insufficiency should include detailed description of venographic technique u…