Search results for " syndrome"
showing 10 items of 4382 documents
Serum metabolic profiles in overweight and obese women with and without metabolic syndrome.
2014
Objective: To identify serum biomarkers through metabolomics approach that distinguishes physically inactive overweight/obese women with metabolic syndrome from those who are metabolically healthy, independent of body weight and fat mass. Methods: We applied nuclear magnetic resonance spectroscopy-based profiling of fasting serum samples to examine the metabolic differences between 78 previously physically inactive, body weight and fat mass matched overweight/obese premenopausal women with and without MetS. MetS was defined as the presence of at least three of the following five criteria: waist circumference ≥ 88 cm, serum triacylglycerol ≥ 1.7 mmol/L, and high density lipoprotein cholester…
Peripersonal Visuospatial Abilities in Williams Syndrome Analyzed by a Table Radial Arm Maze Task
2020
Williams syndrome (WS) is a genetic deletion syndrome characterized by severe visuospatial deficits affecting spatial exploration and navigation abilities in extra-personal space.To date, little is known about spatial elaboration and reaching abilities in the peripersonal space in individuals with WS. The present study is aimed at evaluating the visuospatial abilities in individuals with WS and comparing their performances with those of mental age-matched typically developing (TD) children by using a highly sensitive ecological version of the Radial Arm Maze (table RAM). We evaluated 15 individuals with WS and 15 TD children in two different table RAM paradigms: the free-choice paradigm, ma…
Neonatal presentation of Prader Willi sindrome. Personal records.
2007
Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutations so far. The authors previously demonstrated that ataluren (PTC124) can restore full-length SBDS…
Usher syndrome : molecular analysis of USH2 genes and development of a next-generation sequencing platform
2013
El síndrome de Usher (USH) es una enfermedad hereditaria autosómica recesiva, caracterizada por la asociación de hipoacusia neurosensorial, retinosis pigmentaria y, en ocasiones, alteración de la función vestibular. Clínicamente, el USH se puede clasificar en tres tipos (USH1, USH2 y USH3), principalmente en base a la gravedad y progresión de la hipoacusia y presencia o no de disfunción vestibular. El USH es heterogéneo tanto a nivel clínico como genético y, hasta la fecha, se han descrito 11 genes implicados en la enfermedad. El USH2 es la forma más común y tres son los genes responsables conocidos: USH2A (72 exones), GPR98 (90 exones) y DFNB31 (12 exones). USH2A es responsable de más del …
Algorytmy i wytyczne postępowania terapeutycznego w ranach trudno gojących się
2020
Niniejsze opracowanie obejmuje podstawowy zbiór zasad i rekomendacji specjalistów z różnych dziedzin medycyny dotyczących postępowania z ranami o różnych etiologiach. Celem dokumentu jest stworzenie algorytmów terapeutycznych, które będą mogły stanowić podstawę przy ocenie rany, monitoringu i doborze optymalnej metody postępowania w poszczególnych etapach jej leczenia. Dokument w swoich założeniach ma stanowić przydatne narzędzie dla praktyków, które ułatwi prawidłowe podejmowanie decyzji terapeutycznych w procesie leczenia rany
B-Cell Receptor Signaling Is Thought to Be a Bridge between Primary Sjogren Syndrome and Diffuse Large B-Cell Lymphoma
2023
Primary Sjogren syndrome (pSS) is the second most common autoimmune disorder worldwide, which, in the worst scenario, progresses to Non-Hodgkin Lymphoma (NHL). Despite extensive studies, there is still a lack of knowledge about developing pSS for NHL. This study focused on cells’ signaling in pSS progression to the NHL type of diffuse large B-cell lymphoma (DLBCL). Using bulk RNA and single cell analysis, we found five novel pathologic-independent clusters in DLBCL based on cells’ signaling. B-cell receptor (BCR) signaling was identified as the only enriched signal in DLBCL and pSS peripheral naive B-cells or salivary gland-infiltrated cells. The evaluation of the genes in association with …
Etiological factors of chronic hepatitis in Italy: a 2014 national survey.
2017
Background The last Italian prevalence survey on chronic hepatitis (CH) conducted in 2001 showed that the hepatitis C virus (HCV) was the main agent associated with CH. Aim The aim of this study was to evaluate epidemiological changes in CH occurring after 13 years. Patients and methods Enrollment of 1392 CH consecutive patients referred to 16 Italian liver units in 2014 scattered all over the country (four in the North, four in the Center, four in the South, and four in the Islands) was performed. Results The mean age of the patients was 58.3 years, with a sex ratio (male/female) of 1.5. HCV infection (also with other etiologies) continues to be the most prevalent etiology (58.1%). However…
The potential role of COVID-19 hygienic measures in reducing infective complications during hospitalization
2021
Anthropometric Indicators as a Tool for Diagnosis of Obesity and Other Health Risk Factors: A Literature Review
2021
[EN] Obesity is characterized by the accumulation of an excessive amount of fat mass (FM) in the adipose tissue, subcutaneous, or inside certain organs. The risk does not lie so much in the amount of fat accumulated as in its distribution. Abdominal obesity (central or visceral) is an important risk factor for cardiovascular diseases, diabetes, and cancer, having an important role in the so-called metabolic syndrome. Therefore, it is necessary to prevent, detect, and appropriately treat obesity. The diagnosis is based on anthropometric indices that have been associated with adiposity and its distribution. Indices themselves, or a combination of some of them, conform to a big picture with di…