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1.
Front Mol Biosci ; 10: 1327233, 2023.
Article in English | MEDLINE | ID: mdl-38099196

ABSTRACT

Background: The incidence of noncommunicable diseases (NCDs) has been rapidly ramped up worldwide. Hence, there is an urgent need to non-invasively detect NCDs possibly by exploiting saliva as a 'liquid biopsy' to identify biomarkers of the health status. Since, the absence of standardized procedures of collection/analysis and the lack of normal ranges makes the use of saliva still tricky, our purpose was to outline a salivary proteomic profile which features healthy individuals. Methods: We collected saliva samples from 19 young blood donors as reference population and the proteomic profile was investigated through mass-spectrometry. Results: We identified 1,004 proteins of whose 243 proteins were shared by all subjects. By applying a data clustering approach, we found a set of six most representative proteins across all subjects including Coronin-1A, F-actin-capping protein subunit alpha, Immunoglobulin J chain, Prosaposin, 78 kDa glucose-regulated protein and Heat shock 70 kDa protein 1A and 1B. Conclusion: All of these proteins are involved in immune system activation, cellular stress responses, proliferation, and invasion thus suggesting their use as biomarkers in patients with NCDs.

2.
Eur Rev Med Pharmacol Sci ; 27(11): 4899-4913, 2023 06.
Article in English | MEDLINE | ID: mdl-37318464

ABSTRACT

OBJECTIVE: Recently, nutraceuticals have been widely explored in many medical fields and their use is also increasing in oral and dental problems. Since the nutraceutical evidence landscape in the literature has not been fully elucidated yet, this review aims to examine the effects of commercially available nutraceuticals and their potential evidence and applications in dentistry. MATERIALS AND METHODS: A scoping review was conducted following the "Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR)" checklist. The electronic search was performed using PubMed/MEDLINE, EMBASE, the Cochrane Library, and Web of Science on March 2022. The inclusion criteria include humans, clinical trials, randomized controlled trials (RCT), reviews, and systematic reviews published over the last ten years. RESULTS: 18 studies met the eligibility criteria. There were 2 RCTs, 11 systematic reviews, and four narrative reviews. In most studies, the clinical indications were oral leucoplakia, periodontitis, osseointegration of implants, oral mucositis, oral clefts, and oral health. Probiotics, prebiotics, polyunsaturated fatty acids, and vitamins A, B, C, D, and E were the most common nutraceuticals used in dentistry. CONCLUSIONS: Nutraceuticals are foods that, according to the literature, may be useful for preventing and treating dental diseases.


Subject(s)
Dietary Supplements , Vitamins , Humans , Osseointegration , Vitamin A , Dentistry
3.
Health Econ Rev ; 12(1): 21, 2022 Mar 18.
Article in English | MEDLINE | ID: mdl-35303183

ABSTRACT

BACKGROUND: To evaluate the potential benefits of the Magnetic Resonance-guided high intensity Focused Ultrasound (MRgFUS) introduction in the clinical practice, for the treatment of uterine fibroids, in comparison with the standard "conservative" procedures, devoted to women who wish to preserve their uterus or enhance fertility: myomectomy and uterine artery embolization (UAE). METHODS: A Health Technology Assessment was conducted, assuming the payer's perspective (Italian National Healthcare Service). The nine EUnetHTA Core Model dimensions were deeply investigated, by means of i) a literature review; ii) the implementation of health economics tools (useful for uterine fibroids patients' clinical pathway economic evaluation, and budget impact analysis), to define MRgFUS economic and organizational sustainability, and iii) administration of specific questionnaires filled by uterine fibroids' experts, to gather their perceptions on the three possible conservative approaches (MRgFUS, UAE and myomectomy). RESULTS: Literature revealed that MRgFUS would generate several benefits, from a safety and an efficacy profile, with significant improvement in symptoms relief. Advantages emerged concerning the patients' perspective, thus leading to a decrease both in the length of hospital stay (p-value< 0.001), and in patients' productivity loss (p-value = 0.024). From an economic point of view, the Italian NHS would present an economic saving of - 6.42%. A positive organizational and equity impact emerged regarding the capability to treat a larger number of women, thus performing, on average, 131.852 additional DRGs. CONCLUSIONS: Results suggest that MRgFUS could be considered an advantageous technological alternative to adopt within the target population affected by uterine fibroids, demonstrating its economic and organisational feasibility and sustainability, with consequent social benefits.

4.
Childs Nerv Syst ; 34(12): 2471-2479, 2018 12.
Article in English | MEDLINE | ID: mdl-29948136

ABSTRACT

PURPOSE: We assessed short- and mid-long-term clinical efficacy of transanal irrigation (TAI) and its effect on the quality of life of children with spina bifida (SB) and anorectal malformations (ARM). METHODS: Seventy-four pediatric patients (age 6-17 years) with SB and ARM with neurogenic bowel dysfunction were enrolled for a prospective and multicentric study. Patients were evaluated before the beginning of TAI (T0), after 3 months (T1) and after at least 2 years (range 24-32 months) (T2) using a questionnaire assessing bowel function, the Bristol scale, and two validated questionnaires on quality of life: the CHQ-PF50 questionnaire for the parents of patients aged 6-11 years and the SF36 questionnaires for patients aged between 12 and 18 years. RESULTS: Seventy-two patients completed TAI program in T1, and 67 continued into T2. Bowel outcomes (constipation and fecal incontinence) improved in both the SB and the ARM groups in the short and mid-long term. In both groups at T1 and T2, parents and children reported an improvement in quality of life and there was a significant increase of stool form types 4 and 5 as described by the Bristol scale. Common adverse effects during the study were similar at T1 and T2 without serious complications. CONCLUSIONS: We observed a sustained improvement in bowel management and quality of life in SB and ARM children during the study, more significant in the short term than in mid-long term. To maintain success rates in the mid-long term and to reduce the dropout rate, we propose patient training and careful follow-ups.


Subject(s)
Anorectal Malformations/therapy , Neurogenic Bowel/therapy , Spinal Dysraphism/therapy , Therapeutic Irrigation/methods , Adolescent , Anorectal Malformations/complications , Child , Female , Humans , Male , Neurogenic Bowel/etiology , Quality of Life , Spinal Dysraphism/complications , Treatment Outcome
5.
Br J Surg ; 103(8): 1026-32, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27146356

ABSTRACT

BACKGROUND: Groin lymph node dissection for melanoma is burdened by high postoperative morbidity. Videoscopic lymphadenectomy may lower the incidence of complications, including infection, dehiscence and lymphoedema. This pilot study aimed to investigate the feasibility and postoperative outcomes of videoscopic ilioinguinal lymphadenectomy in patients with inguinal nodal melanoma metastases. METHODS: Patients with inguinal nodal metastases, with either a positive sentinel lymph node biopsy or clinically positive nodes from melanoma, were enrolled. Inguinal dissection was performed via three ports. Iliac dissection was obtained through a preperitoneal access. Intraoperative and postoperative data were collected. RESULTS: Of 23 patients selected for 24 procedures, four needed conversion to an open procedure. Median duration of surgery was 270 (i.q.r. 245-300) min. Wound-related postoperative complications occurred in four patients, although only one needed further intervention. The median number of excised lymph nodes was 21 (i.q.r. 15-25). After a median follow-up of 18 months, regional lymph node recurrence was observed in two patients. CONCLUSION: Videoscopic ilioinguinal lymphadenectomy for melanoma groin lymph node metastases is technically feasible, safe, and associated with acceptable morbidity and oncological outcome.


Subject(s)
Laparoscopy/methods , Lymph Node Excision/methods , Lymphatic Metastasis , Melanoma/pathology , Skin Neoplasms/pathology , Video-Assisted Surgery , Adult , Conversion to Open Surgery/statistics & numerical data , Female , Groin , Humans , Male , Middle Aged , Neoplasm Recurrence, Local , Operative Time , Pilot Projects , Postoperative Complications , Prospective Studies
6.
Colorectal Dis ; 18(1): 86-93, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26304756

ABSTRACT

AIM: In paediatric and adult patients with neurogenic bowel, transanal irrigation (TAI) of the colon has gained popularity due to the introduction of a specifically designed device. The aim of this pilot study was to present the results of TAI using the Peristeen(®) TAI system in a group of paediatric patients with anorectal malformation (ARM) and congenital or acquired spinal cord lesions (SCLs). METHOD: Eight Italian paediatric surgery and spina bifida centres participated in the study. The inclusion criteria were age between 6 and 17 years, weight above 20 kg and unsatisfactory bowel management. Patients with chronic inflammatory bowel disease, mental disability and surgery within the previous 3 months were excluded. At the beginning of treatment (T0) and after 3 months (T1) the Bristol scale, a questionnaire assessing bowel function, and two questionnaires on quality of life (QoL) for patients aged 6-11 years (CHQ-pf50) and 12-17 years (SF36) were administered. RESULTS: Eighty-three patients were enrolled, and seventy-eight completed the study (41 ARMs, 37 SCLs). At T1, constipation was reduced in ARMs from 69% to 25.6% and in SCLs from 92.7% to 41.5%, faecal incontinence in ARMs from 50% to 18.6% and in SCLs from 39% to 9.8% and flatus incontinence in ARMs from 20.9% to 9.8% and in SCLs from 31.7% to 10%. At T0, the Bristol Stool Scale types were 1-2 in 45% of ARMs and 77.5% of SCL patients, whereas at T1 types 1-2 were recorded in only 2.5% of SCL patients. QoL improved in both groups. In the younger group, a significant improvement in QoL was recorded in ARM patients for eight of nine variables and in SCL patients for seven of nine variables. CONCLUSION: This study showed that Peristeen TAI resulted in a significant time reduction in colonic cleansing, increased independence from the carer and improved QoL in paediatric patients with ARMs and SCLs.


Subject(s)
Constipation/therapy , Enema/instrumentation , Fecal Incontinence/therapy , Therapeutic Irrigation/instrumentation , Adolescent , Anal Canal/abnormalities , Anorectal Malformations , Anus, Imperforate , Child , Constipation/etiology , Fecal Incontinence/etiology , Female , Gastrointestinal Diseases/etiology , Gastrointestinal Diseases/therapy , Humans , Italy , Male , Pilot Projects , Rectum/abnormalities , Spinal Cord Injuries/complications , Spinal Dysraphism/complications
7.
Rev Sci Instrum ; 82(4): 043106, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21528994

ABSTRACT

Reliable time series of vegetation optical properties are needed to improve the modeling of the terrestrial carbon budget with remote sensing data. This paper describes the development of an automatic spectral system able to collect continuous long-term in-field spectral measurements of spectral down-welling and surface reflected irradiance. The paper addresses the development of the system, named hyperspectral irradiometer (HSI), describes its optical design, the acquisition, and processing operations. Measurements gathered on a vegetated surface by the HSI are shown, discussed and compared with experimental outcomes with independent instruments.

8.
Br J Anaesth ; 106(5): 690-4, 2011 May.
Article in English | MEDLINE | ID: mdl-21414982

ABSTRACT

BACKGROUND: The aim of recent haemodynamic monitoring has been to obtain continuous and reliable measures of cardiac output (CO) and indices of preload responsiveness. Many of these methods are based on the arterial pressure waveform analysis. The aim of our study was to assess the accuracy of CO measurements obtained by FloTrac/Vigileo, software version 1.07 and the new version 1.10 (Edwards Lifesciences LLC, Irvine, CA, USA), compared with CO measurements obtained by bolus thermodilution by pulmonary artery catheterization (PAC) in the intensive care setting. METHODS: In 21 critically ill patients (enrolled in two University Hospitals), requiring invasive haemodynamic monitoring, PAC and FloTrac/Vigileo transducers connected to the arterial pressure line were placed. Simultaneous measurements of CO by two methods (FloTrac/Vigileo and thermodilution) were obtained three times a day for 3 consecutive days, when possible. The level of concordance between the two methods was assessed by the procedure suggested by Bland and Altman. RESULTS: One hundred and forty-one pairs of measurements (provided by thermodilution and by both 1.07 and 1.10 FloTrac/Vigileo versions) were obtained in 21 patients (seven of them were trauma patients) with a mean (sd) age of 59 (16) yr. The Pearson product moment coefficient was 0.62 (P<0.001). The bias was -0.18 litre min(-1). The limits of agreement were 4.54 and -4.90 litre min(-1), respectively. CONCLUSIONS: Our data show a poor level of concordance between measures provided by the two methods. We found an underestimation of CO values measured with the 1.07 software version of FloTrac for supranormal values of CO. The new software (1.10) has been improved in order to correct this bias; however, its reliability is still poor. On the basis of our data, we can therefore conclude that both software versions of FloTrac/Vigileo did not still provide reliable estimation of CO in our intensive care unit setting.


Subject(s)
Cardiac Output , Critical Care/methods , Critical Illness/therapy , Adult , Aged , Aged, 80 and over , Female , Hemodynamics , Humans , Male , Middle Aged , Monitoring, Physiologic/instrumentation , Monitoring, Physiologic/methods , Reproducibility of Results , Thermodilution , Transducers, Pressure
9.
Reumatismo ; 62(4): 237-47, 2010.
Article in Italian | MEDLINE | ID: mdl-21253616

ABSTRACT

Several connective tissue diseases, in particular systemic sclerosis (SSc), have Raynaud's phenomenon (RP) as their first clinical manifestation. Primary RP represents a benign condition often observed in otherwise healthy subjects, especially women: it is due to an exaggerated response to the physiological cold-induced vasospasm, whereas the secondary form of RP is typically associated with connective tissue diseases, especially SSc. Nailfold videocapillaroscopy (NVC), particulary after the recent technological advances, is a safe and reliable method to observe the microvascular structure and its early changes, especially during the transition from primary to secondary RP. In case of SSc, by considering validated patterns and scoring systems, NVC is the main tool that rheumatologists can rely on, besides the presence of specific auto-antibodies, to perform a very early diagnosis of the disease. This implies the possibility of early treatment of SSc, with an eye of predicting and preventing its major clinical complications.


Subject(s)
Microscopic Angioscopy , Raynaud Disease/pathology , Scleroderma, Systemic/pathology , Early Diagnosis , Humans , Video Recording
10.
Minerva Ginecol ; 60(4): 299-306, 306-10, 2008 Aug.
Article in English, Italian | MEDLINE | ID: mdl-18560345

ABSTRACT

AIM: The aim of this study was to investigate about diet assessment in the screening for osteoporosis. METHODS: In 1,441 women (group A, mean age 53.5 years, mean time from menopause 3.92(+/-4.33)] the number of daily/weekly servings/cups of different foods has been collected. In 71 women (group B, mean age 59 years, mean time from menopause 6 years) diet was assessed through a detailed questionnaire. Demographic and clinical data and dietary habits were related to bone mineral density (BMD) values, using Student t-test and the chi2 test. RESULTS: Group A: borderline/reduced BMD 40%, the percentage increasing with age and the duration of menopause (P<0.001). BMI within normal range 56.28%. BMD values were positively associated with Body Mass Index (BMI, P<0.001), education level (P<0.005), job (P<0.01), oral contraceptives use (P<0.001), negatively with family history of osteoporosis (P<0.05). BMD values showed a positive relation with the number of eggs per week (P<0.05), positive not significant trends were observed with dairy products, vegetables, red and white meat intake. A low/reduced BMD was related to low calcium food intake in less than 50% of the women. Group B: borderline/reduced BMD 55%; BMD showed positive trends, not significant, with daily calcium intake, BMI, physical exercise. Estimated calcium intake less than 700 mg/day was found in 33% of the sample. CONCLUSION: Diet assessment is not useful in the screening for osteoporosis. In women with borderline or reduced BMD, diet assessment helps to detect those at low calcium intake who need calcium supplementation, alone or in combination with other treatments.


Subject(s)
Bone Density , Feeding Behavior , Menopause , Osteoporosis, Postmenopausal/diagnosis , Osteoporosis, Postmenopausal/prevention & control , Body Mass Index , Calcium, Dietary/administration & dosage , Female , Humans , Italy , Mass Screening , Middle Aged , Nutrition Surveys , Osteoporosis, Postmenopausal/etiology , Risk Factors , Surveys and Questionnaires
11.
Int J Biometeorol ; 52(7): 587-605, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18437430

ABSTRACT

Vegetation phenology is strongly influenced by climatic factors. Climate changes may cause phenological variations, especially in the Alps which are considered to be extremely vulnerable to global warming. The main goal of our study is to analyze European larch (Larix decidua Mill.) phenology in alpine environments and the role of the ecological factors involved, using an integrated approach based on accurate field observations and modelling techniques. We present 2 years of field-collected larch phenological data, obtained following a specifically designed observation protocol. We observed that both spring and autumn larch phenology is strongly influenced by altitude. We propose an approach for the optimization of a spring warming model (SW) and the growing season index model (GSI) consisting of a model inversion technique, based on simulated look-up tables (LUTs), that provides robust parameter estimates. The optimized models showed excellent agreement between modelled and observed data: the SW model predicts the beginning of the growing season (B(GS)) with a mean RMSE of 4 days, while GSI gives a prediction of the growing season length (L(GS)) with a RMSE of 5 days. Moreover, we showed that the original GSI parameters led to consistent errors, while the optimized ones significantly increased model accuracy. Finally, we used GSI to investigate interactions of ecological factors during springtime development and autumn senescence. We found that temperature is the most effective factor during spring recovery while photoperiod plays an important role during autumn senescence: photoperiod shows a contrasting effect with altitude decreasing its influence with increasing altitude.


Subject(s)
Altitude , Ecosystem , Environmental Monitoring/methods , Models, Biological , Periodicity , Weather , Computer Simulation , Italy , Larix
12.
Clin Drug Investig ; 27(1): 51-8, 2007.
Article in English | MEDLINE | ID: mdl-17177579

ABSTRACT

BACKGROUND: Magnesium deficiency has been implicated as a possible contributing factor to some symptoms of premenstrual syndrome (PMS) and several studies have reported a lower intracellular magnesium concentration in women with PMS. Thus, it has been suggested that magnesium supplementation may improve certain symptoms in women with PMS. OBJECTIVE: This open-label study assessed the efficacy and safety of a patented modified-release magnesium 250 mg tablet for improving symptoms in women affected by PMS. METHODS: After a 3-month observational period, women aged 18-45 years with a regular menstrual cycle (from 25-35 days) who were affected by PMS (determined by a score of > or =25 points on a PMS questionnaire) [n = 41] were given the modified-release magnesium tablet over three menstrual cycles, beginning 20 days after the start of their last menstrual period and continuing until the start of their next menstrual period. RESULTS: PMS symptoms improved during magnesium treatment. After 3 months, the mean total PMS score (primary endpoint), as assessed by the investigator using Moos' Modified Menstrual Distress Questionnaire, was significantly lower than before therapy (p < 0.0001). During the same period, the mean PMS scores, as recorded in patients' diaries (secondary efficacy variables), also showed significant improvements (p < 0.0001 for all subscales). The relative decreases in total PMS scores, as assessed by investigator and patient, were 35.1% and 33.5%, respectively. The magnesium tablet was well tolerated, with vertigo the only treatment-related adverse event reported (one patient). CONCLUSIONS: We concluded that modified-release magnesium was effective in reducing premenstrual symptoms in women with PMS in this preliminary study.


Subject(s)
Delayed-Action Preparations/therapeutic use , Magnesium/therapeutic use , Premenstrual Syndrome/drug therapy , Administration, Oral , Adolescent , Adult , Delayed-Action Preparations/administration & dosage , Delayed-Action Preparations/adverse effects , Drug Administration Schedule , Female , Humans , Magnesium/administration & dosage , Magnesium/adverse effects , Magnesium Deficiency/complications , Magnesium Deficiency/drug therapy , Middle Aged , Patient Compliance , Pilot Projects , Premenstrual Syndrome/complications , Tablets , Time Factors , Treatment Outcome , Vertigo/chemically induced
13.
Minerva Anestesiol ; 71(6): 273-80, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15886588

ABSTRACT

We faced some of the most important aspects of the problem of the appropriateness of ICU resources use, that are the relationship between volume of activity and mortality, the analysis of cost-effectiveness in intensive care medicine, and the monitoring of the human resource use in ICU. For this aim three different surveys were utilized: one at European level, the second at country level and, third, a regional survey. After developing a new measure of volume called ''high-risk volume'', we explored the relationship between outcome and volume, founding that such association was very strong (from 3 to 1719% decrease in ICU/hospital mortality every five extra high-risk patients treated per bed per year), and that an occupancy rate larger than 80% was associated with higher mortality. Therefore, patients in all levels of risk are better treated in high-risk volume ICUs with a reasonable occupancy rate. Analysing cost-effectiveness in intensive care medicine using a national case-mix categorized in different diagnostic groups, we identified brain haemorrhage, ALI/ARDS and surgical unscheduled patients as users a high volume of monetary resources less efficiently, while the scheduled abdominal surgery patients admitted to receive intensive care and patients on the ICU for minor organ support made the best use of the fewer resources spent. Finally, we designed a new approach to measure the rate and appropriateness of nursing resource use in ICU on a daily basis. Testing this approach on a group of general non-specialist ICUs, we found that the method was powerful enough to adequately distinguish between ''over'' and ''under-utilization'' and to identify all the theoretical scenarios of nurse/resource utilization.


Subject(s)
Intensive Care Units/organization & administration , Intensive Care Units/standards , Cost-Benefit Analysis , Health Resources/statistics & numerical data , Hospital Mortality , Humans , Intensive Care Units/economics , Life Support Systems/economics , Life Support Systems/instrumentation
14.
Minerva Anestesiol ; 70(5): 351-6, 2004 May.
Article in Italian | MEDLINE | ID: mdl-15181415

ABSTRACT

AIM: The aim of this study is to describe the first experiences on the use of protein C concentrate (PC) in adult patients with severe sepsis and septic shock and clinical contraindications to activated protein C (APC). On the basis of the effectiveness demonstrated by the activated form in sepsis and of the encouraging results expressed in literature of protein C concentrate (PC) mainly about meningococcus fulminating infections, we carried out an observational study on protein C concentrate (PC) with 28-day follow-up and a daily analysis of the hemato-chemical and clinical parameters. Particular attention was paid to the variations in the PC plasma levels, to the modifications of the coagulation system, to the SOFA score as well as to the safety under bleeding risk conditions. METHODS: The study included 7 patients (5 females and 2 males) either with severe sepsis (2). or septic shock (5); one of them had DIC, with PC plasma levels less than 50%. APC could not be administered because of clinical reasons. Patients' mean age was 60.5 years (43-78), the average SAPS II 52.2 (36-72), the pathologies leading to sepsis were lung infections (3). and peritonitis (4). The average time elapsed between the onset of the organ failure and the beginning of treatment with PC was 27.7 hours (12-42). RESULTS: Mortality on day 28 was 42.8% (3 deaths), in all patients the PC plasma levels were brought again to the physiological values. Among the biochemical parameters recorded during the PC infusion, was observed in particular a significant decrease of PDFs, a general rise of the platelet count, and a reduction of the lactic acid levels. No adverse reaction or bleeding complication were seen, even if most of the patients' coagulation was altered or at risk due to neurological problems or repeated surgery. CONCLUSION: In our small number of patients, protein C concentrate has proven to be safe and particularly useful in the control of the coagulopathy triggered and sustained by sepsis.


Subject(s)
Protein C/therapeutic use , Sepsis/drug therapy , Shock, Septic/drug therapy , Adult , Aged , Female , Humans , Male , Middle Aged , Protein C Deficiency/complications , Protein C Deficiency/drug therapy , Sepsis/complications , Severity of Illness Index , Shock, Septic/complications
15.
Acta Paediatr Suppl ; 92(443): 6-8; discussion 5, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14989458

ABSTRACT

UNLABELLED: Fabry disease is a rare lysosomal storage disorder which results from deficient activity of the enzyme alpha-galactosidase A. The resultant deposition and progressive accumulation of glycosphingolipids in all types of body tissue leads to severe clinical manifestations involving the heart, CNS and kidney. Renal manifestations are observed relatively early in the course of the disease, and progression to end-stage renal failure is common in hemizygous males in the third to fifth decades of life. Renal biopsy specimens reveal evidence of diffuse intracytoplasmic glycosphingolipid accumulation, mainly affecting podocytes and epithelial cells of distal tubules, which are strikingly enlarged and vacuolated. On electron microscopy the deposits appear as typical osmiophilic inclusion bodies in the cytoplasm of all kinds of renal cells, and show a characteristic 'onion skin' or 'zebra' appearance. These pathological features are also evident in heterozygous females. Deposits occur before the development of renal impairment. As patients age, the disease progresses in cells throughout the kidney, and is associated with increasing glycosphingolipid accumulation. CONCLUSION: The age-related evolution of renal pathology in Fabry disease is closely correlated with progressive intracellular deposition of glycosphingolipid and ultimately leads to end-stage renal failure.


Subject(s)
Fabry Disease/pathology , Kidney/pathology , Disease Progression , Fabry Disease/physiopathology , Glomerular Filtration Rate , Glycosphingolipids/metabolism , Humans , Kidney/metabolism , Kidney Glomerulus/pathology , Kidney Glomerulus/ultrastructure
18.
Minerva Anestesiol ; 67(7-8): 519-38, 2001.
Article in Italian | MEDLINE | ID: mdl-11602872

ABSTRACT

BACKGROUND: To validate the accuracy of SAPS II, APACHE III and TRISS for the prediction of mortality in Intensive Care Unit (ICU) at polytrauma patients admission. The outcome of multiple trauma patients is often linked to the degree of physiologic dysfunction and to the extension of anatomic lesions, the age of the patient and the lesion mechanism. METHODS: The study population consisted of 93 cases of multiple injured patients hospitalised at the ICU of the Padua hospital from October 1998 to October 1999; the term polytraumatized patient is referred to patients who have multiple lesions of which at least one potentially endangers, immediately or in a short term, their life. These cases were evaluated with the APACHE III, SAPS II, Revised Trauma Score and Injury Severity Score. The predictive power of each system was evaluated by using decision matrix analysis to compare observed and predicted outcome with a decision criterion of 0.50 and 0.40 for risk of hospital death. RESULTS: All trauma score systems under study showed high accuracy rates, above all if they are used with a 40% positive test. CONCLUSIONS: The prognostic scales used in this study showed a good correlation between expected and observed cases, particularly with TRISS and APACHE III systems. The APACHE III system seems to be the most reliable of the different methods analysed. These prognostic systems are seldom or occasionally used in the ICU, in Padua and in the whole of Italy, so Italian data are not suitable to be compared to international ones. Due to urgency, the importance of the evaluation scales is often underestimated, but even if they require time and attention, they surely can be useful in the evaluation of the treatment, and not only of a polytraumatized patient.


Subject(s)
Critical Care , Health Status Indicators , Injury Severity Score , Multiple Trauma/diagnosis , APACHE , Adult , Aged , Aged, 80 and over , Humans , Middle Aged , Prognosis
19.
Nephron ; 88(3): 268-72, 2001 Jul.
Article in English | MEDLINE | ID: mdl-11423760

ABSTRACT

Patients with familial lecithin-cholesterol acyltransferase (LCAT) deficiency very often show progressive glomerulosclerosis with evolution to end-stage disease. High levels of an abnormal lipoprotein (lipoprotein X) cause glomerular capillary endothelial damage. The ultrastructural study of renal biopsy specimens shows characteristic glomerular deposits of membrane-like, cross-striated structures and vacuole structures. The gene encoding for LCAT has been mapped to chromosome 16q22.1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction. Herein we report clinical features and renal histological findings concerning a 24-year-old male patient with classical familial LCAT deficiency due to two different allelic mutations: a nonsense mutation inherited from the father and a missense mutation inherited from the mother. Moreover, the patient showed glomerular histological lesions and an immunofluorescent glomerular pattern typical of hypocomplementemic membranoproliferative type II glomerulonephritis (dense-deposit disease). The nature of electron-dense material that characterizes dense-deposit disease is still unknown, but there are suggestions that some chemical modifications might occur in the renal basement membranes. Therefore, this clinical case might induce to consider possible relations between disorders of the lipoprotein metabolism and renal dense-deposit disease.


Subject(s)
Complement System Proteins/deficiency , Glomerulonephritis, Membranoproliferative/genetics , Glomerulonephritis, Membranoproliferative/metabolism , Lecithin Cholesterol Acyltransferase Deficiency/genetics , Lecithin Cholesterol Acyltransferase Deficiency/metabolism , Mutation , Adult , Alleles , Female , Glomerulonephritis, Membranoproliferative/pathology , Humans , Kidney/ultrastructure , Lecithin Cholesterol Acyltransferase Deficiency/pathology , Lipids/blood , Male , Microscopy, Electron , Pedigree
20.
Minerva Anestesiol ; 67(1-2): 71-8, 2001.
Article in English | MEDLINE | ID: mdl-11279378

ABSTRACT

BACKGROUND: The study was aimed at describing the clinical characteristics of dead patients with acute cerebral lesion and analyzing reasons of the shortage of heart-beating potential organ donors in the Intensive Care Units (ICUs) in the Veneto Region. METHODS: Data have been prospectively recorded in 23 ICUs over six months for deceased patients with acute cerebral lesion (clinical data, death diagnosis) and for any potential organ donor (medical suitability, family interview, organ retrieval). RESULTS: In the ICUs of the Veneto Region in 1998 deceased patients with acute cerebral lesion were 187 per million population (p.m.p.); 317 cases have been studied. Median age was 64 years (range 7-93). Heart-beating death was legally confirmed only in 98/317 cases (31%) against a clinical diagnosis of brain death in 203/317 (64%). Only 82/317 (26%) were considered eligible donors and 48/317 (15%) became real donors (22.8 p.m.p.). Among the remaining 235 cadavers, 105 were over 70 years old. In the group of 130 under 70 years absolute contraindications were present only in 30 and problematical clinical situations were reported in 100. CONCLUSIONS: The number of deaths with acute cerebral lesion represents a sensible index and a key factor for evaluating the potential organ donor pool in small regions and in the single intensive care unit. Collected data demonstrate that in the Veneto Region the efficiency of solid organ retrieval can be improved and that organ donor shortage may depend, beyond family refusal, on clinical and cultural factors that hamper stabilized heart-beating deaths. Most potential donors with age over 70 or problematical clinical situations are preventively excluded by ICUs physicians. To improve organ donation all the patients who die in spite of neuro-intensive treatment should be prevented from circulatory arrest to permit legal declaration of death. Thus more potential organ donors without absolute contraindications could be recovered and time would exist for discussing any problematical situation with experts in organ procurement, particularly in respect to existing urgencies in the waiting list.


Subject(s)
Brain Injuries/pathology , Tissue Donors/statistics & numerical data , Adolescent , Adult , Aged , Aged, 80 and over , Brain Death , Child , Female , Humans , Italy , Male , Middle Aged , Prospective Studies
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