Search results for "palm"
showing 10 items of 338 documents
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoprot…
1997
Abstract The purpose of this study was to characterize intestinal apolipoprotein B (apoB) metabolism in subjects with familial hypobetalipoproteinemia (FHBL), where segregation analysis supports linkage to the apoB gene but no apoB truncations are present. We investigated cholesterol and fat absorption, intestinal apoB mRNA synthesis and editing, as well as apoB-48 synthesis. Plasma triglycerides (TG) and retinyl palmitate in the chylomicron fractions were analyzed after 12 hours of fasting and then repeatedly for 14 hours after ingestion of a vitamin A—containing high-fat meal. Cholesterol absorption was assessed using a dual stable-isotope method. Mean peak times and concentrations and ar…
A systematic approach to medical decision-making of uncommon clinical pictures: A case of ulcerative skin lesions by palm tree thorn injury and a one…
2005
In clinical practice, the clinician is challenged with symptoms and/or signs at times apparently insoluble by diagnostic and/ or therapeutic means. We propose that in these cases, we have to use an EBM approach in which evidence may be looked up in every available clinical report and bibliographic databases are used for searching that evidence. We report on a case of ulcerative skin lesions apparently insoluble by expert dermatologists following a conventional diagnostic and therapeutic process. We use this case report for illustrating a systematic approach to resolve diagnostic and therapeutic questions using a bibliographic database search (like MEDLINE and EMBASE). Both a systematic appr…
Low-density lipoproteins generated during an oral fat load in mild hypertriglyceridemic and healthy subjects are smaller, denser, and have an increas…
2005
Triglyceride-rich lipoproteins generated during the postprandial phase are atherogenic. Large very low-density lipoproteins (LDLs) or chylomicrons (CMs) are not as atherogenic as their remnants (Rem). Small and dense LDLs are associated with cardiovascular disease. Low-density lipoprotein size is partly under genetic control and is considered as a relatively stable LDL feature. In this article, we present data on retinyl palmitate kinetics correlated with the modification of LDL features in terms of size, density, and in vitro receptor binding affinity after an oral fat load. Six nondiabetic, hypertriglyceridemic (HTG) patients and 6 healthy controls were examined. Low-density lipoprotein s…
Selective T3–T4 sympathicotomy versus gray ramicotomy on outcome and quality of life in hyperhidrosis patients: a randomized clinical trial
2021
Abstract Background: compensatory hyperhidrosis is the leading cause of patients' dissatisfaction after thoracic sympathicotomy.Objective: to reduce compensatory hyperhidrosis to increase patients' satisfaction. Patients and methods: a prospective randomized study on palmar hyperhidrosis, May 2016-September, 2019. Twenty-one patients T3-T4 sympathicotomy and 21 T3-T4 gray ramicotomy. Data prospectively collected. Analysis at study's end. Focus on the sweating, temperature, quality of life baseline and postoperatively, compensatory hyperhidrosis, hand dryness, patients' satisfaction, and if they would undergo the procedure again and would recommend it.Results: No baseline differences between…
Predictive factors of overall functioning improvement in patients with chronic schizophrenia and schizoaffective disorder treated with paliperidone p…
2018
BACKGROUND Long-acting injectable (LAI) antipsychotics can improve medication adherence and reduce hospitalisation rates compared with oral treatments. Paliperidone palmitate (PAL) and aripiprazole monohydrate (ARI) LAI treatments were associated with improvements in global functioning in patients with schizophrenia. OBJECTIVE The objective of this study was to assess the predictive factors of better overall functioning in patients with chronic schizophrenia and schizoaffective disorder treated with PAL and ARI. METHOD Enrolled were 143 (97 males, 46 females, mean age 38.24 years, SD = 12.65) patients with a diagnosis of schizophrenia or schizoaffective disorder, whom we allocated in two gr…
Current state of clinical and morphological features in human NCL.
2004
The neuronal ceroid lipofuscinoses (NCL) are large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of (NCL) was based on age at onset clinicopathological (C‐P) findings described 4 forms, classified as infantile (INCL) (2), late‐infantile (LINCL) (5), juvenile (JNCL) (6), and adult (ANCL) most patients with NCL have progressive ocular and cerebral dysfunvtion, including cognitive/motor dysfunction and uncontrolled seizures. After reviewing 520 patients with NCL, we found that about 104 (20%) did not fit this classification of NCL With further research, 4 additional forms have been recognized: F…
Seasonal changes in some thermoregulatory variables of the house sparrow (Passer domesticus L.)
1975
Abstract 1. The body weight, plumage, insulation, oxygen consumption and body lipids were studied seasonally in the house sparrow, Passer domesticus L. 2. The weights of body and plumage were greater in autumn and winter than in summer. 3. The insulative property of the plumage was better in autumn and winter birds than in summer birds. 4. The oxygen consumption of young birds was higher than that of plucked and adult birds. 5. The amount of subcutaneous depot fat tissue and its lipid content was greatest in autumn. The C18-unsaturated fatty acids were most prominent in the subcutaneous fat. Palmitic acid was the most prevalent fatty acid in the liver. The relative amount of C18-unsaturated…
Subtype-Specific Desensitization of Human Endothelin ETA and ETB Receptors Reflects Differential Receptor Phosphorylation
1997
Endothelins regulate blood pressure in mammals through G protein-coupled receptors. Two receptor subtypes, ETA and ETB, exist which differ by their agonist profiles. Here we show subtype-specific differences in the inactivation of these endothelin receptors. Using a modified inositol phosphate accumulation assay, we found that stimulation of ETA by endothelin-1 results in sustained activation of the subtype, retaining >30% of its initial activity even 20 min after agonist administration, whereas the ETB rapidly deactivated after agonist stimulation, losing >80% of its initial activity within 5 min after endothelin application. The discrepancy in receptor inactivation is reflected by subtype…
Nuovi linguaggi e citazioni storiciste per le architetture del loisir a Palermo: l’Hotel delle Palme, da dimora extra moenia ad albergo urbano
2017
Breve storia dell'Hotel delle Palme di Palermo con particolare riguardo all'intervento dei primi del Novecento a seguito della vendita dell'albergo fra il fondatore a una società