Search results for "Dosis"

The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism

1976

The mucopolysaccharidoses are genetic disorders of glycosaminoglycan metabolism. Patients with these diseases accumulate within the lysosomes of most tissues excessive amounts of dermatan and/or heparan sulfates, or of keratan sulfate. The clinical consequences of such glycosaminoglycan storage range from skeletal abnormalities to cardiovascular problems, and to motor and mental retardation. In all mucopolysaccharidoses, except Morquio disease, an excessive accumulation of sulfate-labeled glycosaminoglycans has been demonstrated in fibroblasts cultured from the patient's skin. It was subsequently shown that this was due to the deficiency of specific proteins which were named "corrective fac…

Pränatale Diagnostik der Sialidose, eines Defektes des lysosomalen Enzyms Neuraminidase

1988

Die Sialidose, eine lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen, ist ein genetischer Enzymdefekt mit stark eingeschrankter Lebenserwartung des betroffenen Kindes. Nach vorheriger Geburt eines an dieser Erkrankung verstorbenen Kindes gelang mit Hilfe der biochemischen Analyse von Amnionzellen der korrekte pranatale Ausschlus einer Sialidose unter Voraussage eines heterozygoten Ubertragerstatus. Aus nicht geklarter Ursache war das Wachstum sowohl der Amnionzellen als auch der postnatal untersuchten Fibroblasten deutlich vermindert. Diese Beobachtung sollte bei weiteren pranatalen Untersuchungen uberpruft werden. Die Moglichkeit der pranatalen Diagnostik einer Sialidose …

Akutes Nierenversagen auf dem Boden einer Hyperkalzämie und periphere Polyneuropathie – seltene Manifestationen einer Sarkoidose

2000

Hintergrund: Als Systemerkrankung kann die Sarkoidose alle Organsysteme befallen. Neben dem haufigen Befall von Lungen und thorakalen Lymphknoten kommen auch seltene Manifestationen wie Nierenversagen und eine Beteiligung des Nervensystems vor. Fallbericht: Ein 57-jahriger Patient wurde nach einem Urlaub im Suden mit Belastungsdyspnoe und akutem Nierenversagen bei Hyperkalzamie stationar aufgenommen. Der klinische Verdacht einer Sarkoidose als Grunderkrankung mit den ausergewohnlichen extrapulmonalen Manifestationen einer Kalziumnephropathie sowie einer sensiblen Polyneuropathie lies sich bestatigen. Schlusfolgerung: Dieser Fall zeigt, dase eine asymptomatische Sarkoidose durch vermehrte UV…

Diabetes care practices and outcomes in 40.000 children and adolescents with type 1 diabetes from the SWEET registry during the COVID-19 pandemic

2023

Aims This study aimed to provide a global insight into initiatives in type 1 diabetes care driven by the COVID-19 pandemic and associations with glycemic outcomes. Methods An online questionnaire regarding diabetes care before and during the pandemic was sent to all centers (n=97, 66,985 youth with type 1 diabetes) active in the SWEET registry. Eighty-two responded, and 70 (42,798 youth with type 1 diabetes) had available data (from individuals with type 1 diabetes duration >3 months, aged ≤21 years) for all 4 years from 2018 to 2021. Statistical models were adjusted, among others, for technology use. Results Sixty-five centers provided telemedicine during COVID-19. Among those centers naiv…

Remission phase in children diagnosed with type 1 diabetes (T1D) in years 2012-2013 in Silesia, Poland – an observational study

2019

Background/Objective The study aimed to analyze the frequency of partial remission (PR) and its association with chosen clinical and laboratory factors among pediatric patients with newly diagnosed type 1 diabetes (T1D). The long‐term effect of PR on chosen parameters was also investigated. Methods In 194 patients (95 girls) aged 8.1 ± 4.3 years, we analyzed data at T1D onset: glycemia, pH, C‐peptide, antibodies, weight, and concomitant autoimmune diseases. Anthropometric parameters, daily insulin requirement (DIR), and HbA1c 2 and 4 years after T1D diagnosis were also analyzed. We determined PR based on HbA1c and DIR measurements at least every 3 months. Results PR occurred in 59% of patie…

Multisystem Amyloidosis in a Coal Miner with Silicosis: Is Exposure to Silica Dust a Cause of Amyloid Deposition?

2022

The over-secretion of monoclonal immunoglobulin light chains by clonal B cells followed by the aggregation and extracellular deposition of fibrillar deposits are responsible forthe clinical course AL amyloidosis. It is well documented that silica significantly increases the number of immunoglobulin-secreting cells. In the present paper, we report on a coal miner with silicosis and fast progressing primary amyloidosis with predominantly heart, kidney, and lung manifestations. Severeheart failure due to myocardial hypertrophy resulted in the patient’s death. We conclude that long-term environmental silica exposure and silica deposition may contribute to the development of monoclonal gammopath…

Cardiac sarcoidosis: Matching speckle tracking echocardiography to macroscopic Ventricular pathology (a case report)

2016

Clinical strategies for the management of intestinal obstruction and pseudo-obstruction. A Delphi Consensus study of SICUT (Società Italiana di Chiru…

2016

Intestinal obstructions/pseudo-obstruction of the small/large bowel are frequent conditions but their management could be challenging. Moreover, a general agreement in this field is currently lacking, thus SICUT Society designed a consensus study aimed to define their optimal workout.The Delphi methodology was used to reach consensus among 47 Italian surgical experts in two study rounds. Consensus was defined as an agreement of 75.0% or greater. Four main topic areas included nosology, diagnosis, management and treatment.A bowel obstruction was defined as an obstacle to the progression of intestinal contents and fluids generally beginning with a sudden onset. The panel identified four major…

Pathophysiological and vascular characteristics of tumours and their importance for hyperthermia: Heterogeneity is the key issue

2010

Tumour blood flow before and during clinically relevant mild hyperthermia exhibits pronounced heterogeneity. Flow changes upon heating are not predictable and are both spatially and temporally highly variable. Flow increases may result in improved heat dissipation to the extent that therapeutically relevant tissue temperatures may not be achieved. This holds especially true for tumours or tumour regions in which flow rates are substantially higher than in the surrounding normal tissues. Changes in tumour oxygenation tend to reflect alterations in blood flow upon hyperthermia. An initial improvement in the oxygenation status, followed by a return to baseline levels (or even a drop to below b…

Concurrent Measurements of O2 Partial Pressures and pH Values in Human Mammary Carcinoma Xenotransplants

1986

Due to severe restrictions of convective and diffusive transport, hypoxic or even anoxic areas exist in malignant tumors. In addition, a high glycolytic rate in tumors both in the presence and absence of oxygen and the insufficient removal of the hereby produced lactic acid lead to an acidification of the tumor tissue. Both hypoxia and acidosis can influence the efficacy of irradiation, chemotherapy and hyperthermia. However, no comprehensive data on the development of both hypoxia and acidosis within the same tumor are available to date. In particular, there is no information regarding human tumors. Therefore, a new model has been developed which allows the systematic evaluation of both pa…