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1.
Minerva Med ; 2024 May 09.
Article in English | MEDLINE | ID: mdl-38727705

ABSTRACT

BACKGROUND: Metabolic syndrome (MetS) and its components are directly associated with cardiovascular risk. Insulin resistance (IR) is the most common pathophysiological feature of MetS. A novel index, the triglyceride-glucose index (TyG), is considered a surrogate marker of IR. Hence, we estimated the ability of TyG to predict the risk to develop MetS over a follow-up period of 8 years. In addition, we compared the predictive role of TyG and that of the HOmeostatis Model Assessment (HOMA) of IR index (a widely used tool to evaluate IR). METHODS: The analysis included 440 adult men (The Olivetti Heart Study) without MetS at baseline. The optimal cut-off point of the association of continuous TyG or HOMA-IR with MetS was identified by ROC analysis. RESULTS: During the follow-up period, 21.6% of participants developed MetS. Baseline TyG and HOMA-IR were both significantly greater in those who developed MetS than in those who did not. These results were confirmed upon adjustment for the main confounders. After stratification by the optimal cut-off point, TyG >4.78 was a significant predictor of MetS, also after adjustment for main confounders. Likewise, HOMA-IR >2.14 was associated with the risk of MetS development in multivariate models. CONCLUSIONS: The results of this prospective study indicate a significant predictive role of TyG on the risk of MetS, independently of the main confounders. They suggest that TyG may serve as a low-cost and simple non-invasive marker for cardio-metabolic risk stratification, with respect to more complex and expensive assays of IR requiring the insulin measurement.

2.
Eur J Case Rep Intern Med ; 11(1): 004113, 2024.
Article in English | MEDLINE | ID: mdl-38223275

ABSTRACT

Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency. MPS-IVA patients show severe extra-skeletal and skeletal manifestations, featured by bone pain and deformities, frailty fractures and early onset osteoporosis. The enzyme replacement therapy (ERT) with elosulfase-α stabilizes the MPS-IVA extra-skeletal manifestations but does not significantly improve MPS-IVA skeletal manifestations. We administered an integrated therapy to an MPS-IVA 41-year-old male patient, composed of zoledronic acid, cholecalciferol and a normocalcemic (calcium intake ≥1 g/day), hyposodic (sodium intake ≤5 g/day), and normocaloric diet (bone-diet), other than ERT. During the six-year follow-up, the patient did not develop any adverse events, obtaining an improvement of bone mineral density and quality of life. Given our results, we propose this integrated treatment (i.e. ERT, zoledronic acid, cholecalciferol, and bone diet) in the management of MPS-IVA adult patients. LEARNING POINTS: Mucopolysaccharidosis type IVA (MPS-IVA) is a genetic, rare, and degenerative spondylo-epiphyso-metaphyseal dysplasia characterized by extra-skeletal and skeletal manifestations. The latter impacts on MPS-IVA patient daily activities, and enzyme replacement therapy has a poor efficacy in improving skeletal involvement.The proposed integrated management with enzyme replacement therapy, zoledronic acid, cholecalciferol and bone diet improve both bone mineral density and the prognosis quoad valetudinem of our MPS-IVA patient.

3.
Orphanet J Rare Dis ; 18(1): 378, 2023 Dec 02.
Article in English | MEDLINE | ID: mdl-38042851

ABSTRACT

BACKGROUND: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated reductions in sphingomyelin storage, organomegaly, interstitial lung disease and impaired diffusion capacity of the lung (DLCO), during the first year of olipudase alfa treatment. In an ongoing open-label extension of the ASCEND trial, individuals in the placebo group crossed over to olipudase alfa, and those in the olipudase alfa group continued treatment. RESULTS: Thirty-five of 36 participants continued in the extension trial, and 33 completed year 2. Change-from-baseline results are presented as least-square mean percent change ± SEM. Improvements in the cross-over group after 1 year of treatment paralleled those of the olipudase alfa group from the primary analysis, while clinical improvement continued for those receiving olipudase alfa for 2 years. In the cross-over group, percent-predicted DLCO increased by 28.0 ± 6.2%, spleen volume decreased by 36.0 ± 3.0% and liver volume decreased by 30.7 ± 2.5%. For those with 2 years of olipudase alfa treatment, the percent predicted DLCO increased by 28.5 ± 6.2%, spleen volume decreased by 47.0 ± 2.7%, and liver volume decreased by 33.4 ± 2.2%. Lipid profiles and elevated liver transaminase levels improved or normalized by 1 year and remained stable through 2 years of treatment. Overall, 99% of treatment-emergent adverse events were mild or moderate, with one treatment-related serious adverse event (extrasystoles; previously documented cardiomyopathy). No individual discontinued due to an adverse event. CONCLUSION: Treatment with olipudase alfa is well tolerated and reduces manifestations of chronic ASMD with sustained efficacy. Trial registration NCT02004691 registered 9 December 2013, https://clinicaltrials.gov/ct2/show/NCT02004691.


Subject(s)
Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Adult , Humans , Sphingomyelin Phosphodiesterase/therapeutic use , Recombinant Proteins/therapeutic use
4.
Polymers (Basel) ; 15(19)2023 Oct 05.
Article in English | MEDLINE | ID: mdl-37836051

ABSTRACT

Polyvinyl alcohol (PVOH) exhibits outstanding gas-barrier properties, which favor its use as a biodegradable, high-barrier coating on food-packaging films, possibly in combination with modified atmospheres. Nonetheless, its high sensitivity to water can result in a severe loss of barrier properties, significantly limiting its applications with fresh foods and in high-humidity conditions. In this work, the water vapor (PWV) and oxygen permeability (PO2) of high-barrier biodegradable films with PVOH/PLA + wax double coatings were extensively characterized in a wide range of relative humidity (from 30 to 90%), aimed at understanding the extent of the interaction of water with the wax and the polymer matrices and the impact of this on the permeation process. What is more, a mathematical model was applied to the PWV data set in order to assess its potential to predict the permeability of the multilayer films by varying storage/working relative humidity (RH) conditions. The carbon dioxide permeability (PCO2) of the films was further evaluated, and the corresponding permselectivity values were calculated. The study was finally augmented through modified atmosphere packaging (MAP) tests, which were carried out on double-coated films loaded with 0 and 5% wax, and UV-Vis analyses. The results pointed out the efficacy of the PLA + wax coating layer in hampering the permeation of water molecules, thus reducing PVOH swelling, as well as the UV-shielding ability of the multilayer structures. Moreover, the MAP tests underlined the suitability of the double-coated films for being used as a sustainable alternative for the preservation of foods under modified atmospheres.

5.
BMJ Case Rep ; 16(9)2023 Sep 18.
Article in English | MEDLINE | ID: mdl-37723088

ABSTRACT

A woman in her 40s was admitted to hospital with weight loss, asthenia, persistent abdominal pain and post-prandial nausea and vomiting. Other comorbidities were anxiety-depressive disorder, gastro-oesophageal reflux disease and fibrocystic mastopathy. On admission her body mass index (BMI) was 15.57 kg/m2 with a reported weight loss of 6 kg during the last 3 months. The patient underwent a double contrast abdominal CT scan, which showed that the third portion of the duodenum appeared to be compressed between the superior mesenteric artery and the abdominal aorta. After a multidisciplinary evaluation, a conservative approach and nutritional supplementation was decided upon and administered. At the 1-year follow-up the symptoms had greatly improved; the epigastric pain, although persistent, was reduced, also due to the weight gain to 50 kg (BMI 19.5 kg/m2). Wilkie's syndrome, in its acquired form, predominantly affects young women after rapid weight loss. In the diagnostic work-up, case history, physical examination and radiological findings play a key role.


Subject(s)
Duodenal Obstruction , Superior Mesenteric Artery Syndrome , Female , Humans , Diagnosis, Differential , Superior Mesenteric Artery Syndrome/diagnostic imaging , Abdominal Pain/etiology , Duodenum
6.
Intern Emerg Med ; 18(3): 831-842, 2023 04.
Article in English | MEDLINE | ID: mdl-36882619

ABSTRACT

Acid sphingomyelinase deficiency (ASMD) is an ultra-rare disease, and several gaps of knowledge on various issues remain, particularly at a regional/national level. Expert opinions collected through well-defined consensus methodologies are increasingly used to make available reliable information in the context of rare/ultra-rare diseases. With the aim to provide indications on infantile neurovisceral ASMD (also formerly known as Niemann-Pick disease type A), chronic neurovisceral ASMD (formerly known as Niemann-Pick disease type A/B) and chronic visceral ASMD (formerly known as Niemann-Pick disease type B) in Italy, we conducted a Delphi consensus of experts focused on five main areas: (i) patients and disease characteristics; (ii) unmet needs and quality of life; (iii) diagnostic issues; (iv) treatment-related aspects; and (v) patient journey. Pre-specified, objective criteria were used to outline the multidisciplinary panel, based on 19 Italian experts in ASMD in paediatric and adult patients from different Italian Regions, including both clinicians (n = 16) and ASMD patients' advocacy or payors with expertise in rare diseases (n = 3). During two Delphi rounds, a high ratio of agreement was found on several topics related to ASMD characteristics, diagnosis, management and disease burden. Our findings may provide valuable indications for management of ASMD at a public health level in Italy.


Subject(s)
Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Adult , Humans , Child , Niemann-Pick Disease, Type A/diagnosis , Sphingomyelin Phosphodiesterase , Quality of Life , Consensus , Rare Diseases , Delphi Technique , Italy
7.
Eur J Intern Med ; 108: 81-84, 2023 02.
Article in English | MEDLINE | ID: mdl-36443133

ABSTRACT

Lysosomal storage disorders are a group of inborn errors of metabolism due to defects in proteins crucial for lysosomal function. Gaucher disease is the most common autosomal recessive lysosomal storage disorder due to mutations in the GBA1 gene, resulting in the lysosomal deficiency of glucocerebrosidase activity. Gaucher disease is characterized by the toxic accumulation of glucosylceramide in the reticuloendothelial system. Acid sphingomyelinase deficiency (ASMD), previously known as Niemann Pick A/B disease, is also an autosomal recessive lysosomal storage disorder due to mutations in the SMPD1 gene, which result in acid sphingomyelinase deficiency and the accumulation of sphingomyelin in mononuclear phagocytic system and hepatocytes. The phenotypic expression of Gaucher disease type 1 (GD1), the most common type, and chronic visceral ASMD may overlap for several signs or symptoms. Splenomegaly is detectable in approximately 90% of the patients in both conditions; however, since GD1 is more frequent than ASMD, clinicians are more prone to suspect it, often neglecting the diagnosis of ASMD. Based on previous experience, a group of experts in the clinical and laboratory diagnosis, management, and treatment of lysosomal storage disorders developed an algorithm for both GD1 and ASMD to support physicians, including primary care providers, internists, and specialists (e.g., hepatologists, hematologists, and pulmonologists) to suspect and differentiate GD1 and ASMD and to provide the appropriate referral.


Subject(s)
Gaucher Disease , Niemann-Pick Disease, Type A , Niemann-Pick Disease, Type B , Humans , Niemann-Pick Disease, Type A/diagnosis , Niemann-Pick Disease, Type A/genetics , Niemann-Pick Disease, Type A/metabolism , Gaucher Disease/diagnosis , Gaucher Disease/genetics , Sphingomyelin Phosphodiesterase/genetics , Sphingomyelin Phosphodiesterase/metabolism , Niemann-Pick Disease, Type B/diagnosis , Niemann-Pick Disease, Type B/genetics , Algorithms
9.
Nutrients ; 14(15)2022 Aug 03.
Article in English | MEDLINE | ID: mdl-35956356

ABSTRACT

(1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expenditure (REE) in GD involved mainly untreated patients and supported a hypermetabolic condition possibly due to the associated inflammatory state. Definitive conclusions could not be drawn also because of the heterogeneity and the small size of the samples investigated. In order to expand current knowledge concerning, in particular the condition of patients under Enzyme Replacement Therapy (ERT), we evaluated the nutritional status of a relatively large sample of GD patients followed at Federico II University Hospital in Naples, Italy. (2) Methods: The study, having a cross-sectional design and involving 26 patients on ERT, included routine biochemical analyses, bioelectrical impedance analysis, indirect calorimetry, and administration of food frequency and physical activity questionnaires. The results in GD patients were compared with those from an appropriate control group. (3) Results: GD patients had normal biochemical parameters in 80% of cases, except for HDL-cholesterol, consumed a hyper-lipidic diet, and had a 60% prevalence of overweight/obesity. Body composition did not differ between patients and controls; however, measured REE was significantly lower than predicted and was reduced in comparison with the healthy controls. (4) Conclusions: This study provided novel elements to the present knowledge about REE and the nutritional status of GD patients under ERT. Its results warrant confirmation in even larger GD population samples and a more in-depth investigation of the long-term effects of treatment superimposed on the basic pathophysiological disease condition.


Subject(s)
Gaucher Disease , Nutritional Status , Body Composition , Calorimetry, Indirect , Cross-Sectional Studies , Energy Metabolism/physiology , Gaucher Disease/drug therapy , Gaucher Disease/epidemiology , Humans
10.
Genet Med ; 24(7): 1425-1436, 2022 07.
Article in English | MEDLINE | ID: mdl-35471153

ABSTRACT

PURPOSE: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults. METHODS: A phase 2/3, 52 week, international, double-blind, placebo-controlled trial (ASCEND; NCT02004691/EudraCT 2015-000371-26) enrolled 36 adults with ASMD randomized 1:1 to receive olipudase alfa or placebo intravenously every 2 weeks with intrapatient dose escalation to 3 mg/kg. Primary efficacy endpoints were percent change from baseline to week 52 in percent predicted diffusing capacity of the lung for carbon monoxide and spleen volume (combined with splenomegaly-related score in the United States). Other outcomes included liver volume/function/sphingomyelin content, pulmonary imaging/function, platelet levels, lipid profiles, and pharmacodynamics. RESULTS: Least square mean percent change from baseline to week 52 favored olipudase alfa over placebo for percent predicted diffusing capacity of the lung for carbon monoxide (22% vs 3.0% increases, P = .0004), spleen volume (39% decrease vs 0.5% increase, P < .0001), and liver volume (28% vs 1.5% decreases, P < .0001). Splenomegaly-related score decreased in both groups (P = .64). Other clinical outcomes improved in the olipudase alfa group compared with the placebo group. There were no treatment-related serious adverse events or adverse event-related discontinuations. Most adverse events were mild. CONCLUSION: Olipudase alfa was well tolerated and associated with significant and comprehensive improvements in disease pathology and clinically relevant endpoints compared with placebo in adults with ASMD.


Subject(s)
Niemann-Pick Disease, Type A , Adult , Carbon Monoxide/therapeutic use , Double-Blind Method , Enzyme Replacement Therapy/methods , Humans , Recombinant Proteins , Sphingomyelin Phosphodiesterase , Splenomegaly
11.
Polymers (Basel) ; 14(5)2022 Feb 25.
Article in English | MEDLINE | ID: mdl-35267757

ABSTRACT

Biodegradable polymers suffer from inherent performance limitations that severely limit their practical application. Their functionalization by coating technology is a promising strategy to significantly improve their physical properties for food packaging. In this study, we investigated the double coating technique to produce multifunctional, high barrier and heat-sealable biodegradable films. The systems consisted of a web layer, made of poly(lactide) (PLA) and poly(butylene-adipate-co-terephthalate) (PBAT), which was first coated with a poly(vinyl) alcohol based layer, providing high barrier, and then with a second layer of PLA + ethylene-bis-stereamide (EBS) wax (from 0 to 20%), to provide sealability and improve moisture resistance. The films were fully characterized in terms of chemical, thermal, morphological, surface and functional properties. The deposition of the PVOH coating alone, with a thickness of 5 µm, led to a decrease in the oxygen transmission rate from 2200 cm3/m2 d bar, for the neat substrate (thickness of 22 µm), to 8.14 cm3/m2 d bar (thickness of 27 µm). The deposition of the second PLA layer did not affect the barrier properties but provided heat sealability, with a maximum bonding strength equal to 6.53 N/25 mm. The EBS wax incorporation into the PLA slightly increased the surface hydrophobicity, since the water contact angle passed from 65.4°, for the neat polylactide layer, to 71° for the 20% wax concentration. With respect to the substrate, the double-coated films exhibited increased stiffness, with an elastic modulus ca. three times higher, and a reduced elongation at break, which, however still remained above 75%. Overall, the developed double-coated films exhibited performances comparable to those of the most common synthetic polymer films used in the packaging industry, underlining their suitability for the packaging of sensitive foods with high O2-barrier requirements.

12.
Clin Exp Hypertens ; 44(1): 26-33, 2022 Jan 02.
Article in English | MEDLINE | ID: mdl-34459325

ABSTRACT

BACKGROUND AND OBJECTIVE: Metabolic syndrome (MS) and its components are associated with greater cardiovascular risk. A number of studies found a positive association between MS and vascular damage, but few observational studies evaluated the predictive role of MS on arterial stiffening (AS). Therefore, the aim of this study was to estimate the ability of MS and its components to predict the risk of AS in an 8-year follow-up of a sample of adult men (Olivetti Heart Study). METHODS: The analysis included 778 men without AS (pulse pressure >60 mmHg) at baseline. A positive diagnosis of MS was made by recognized criteria, if at least three components were present. RESULTS: At the end of the follow-up period, there was an incidence of 11% in AS. The percentage of participants that developed AS was greater in the MS group than those without MS, also after adjustment for main confounders (odds ratio: 2.5, 95% confidence interval: 1.3-4.9). The risk of AS also increased with increase in the numbers of MS elements (p for trend <.01). In addition, the analysis of the predictive role of the single MS component showed that high blood pressure (HBP) was the strongest predictor. CONCLUSIONS: The results of this prospective study indicate a predictive role of MS on AS, independently of main confounders. In addition, HBP seems the strongest predictor of AS among MS components.


Subject(s)
Metabolic Syndrome , Adult , Arteries , Blood Pressure , Humans , Male , Metabolic Syndrome/epidemiology , Prospective Studies , Risk Factors
13.
Int J Mol Sci ; 22(11)2021 May 24.
Article in English | MEDLINE | ID: mdl-34073924

ABSTRACT

Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clinical exome sequencing (CES) is a rapid genetic approach for identifying disease-causing mutations. However, copy number variation and recombination events are poorly detected, and further investigations are required to avoid mis-genotyping. The aim of this work was to set-up an integrated strategy for GD patients genotyping using CES as a first-line test. Eight patients diagnosed with GD were analyzed by CES. Five patients were fully genotyped, while three were revealed to be homozygous for mutations that were not confirmed in the parents. Therefore, MLPA (multiplex ligation-dependent probe amplification) and specific long-range PCR were performed, and two recombinant alleles, one of them novel, and one large deletion were identified. Furthermore, an MLPA assay performed in one family resulted in the identification of an additional novel mutation (p.M124V) in a relative, in trans with the known p.N409S mutation. In conclusion, even though CES has become extensively used in clinical practice, our study emphasizes the importance of a comprehensive molecular strategy to provide proper GBA genotyping and genetic counseling.


Subject(s)
Exome/genetics , Gaucher Disease/diagnosis , Multiplex Polymerase Chain Reaction/methods , beta-Glucosidase/genetics , Alleles , DNA Copy Number Variations , Family , Female , Gaucher Disease/genetics , Genotype , HEK293 Cells , Homozygote , Humans , Male , Mutation , Pedigree
14.
Nutr Metab Cardiovasc Dis ; 31(3): 733-744, 2021 03 10.
Article in English | MEDLINE | ID: mdl-33589321

ABSTRACT

Lysosomal storage disorders (LSDs) are a group of clinically heterogeneous disorders affecting the function of lysosomes and are characterized by an accumulation of undigested substrates within several cell types. In recent years there have been substantial advances in supportive care and drug treatment for some LSDs, leading to improved patient survival, as seen in Gaucher, Pompe and Fabry disease and some Mucopolysaccharidoses; however, many symptoms still persist. Thus it is now even more important to improve patients' quality of life and reduce symptoms and comorbidities. One potential way of achieving this goal is through adjunct nutritional therapy, which is challenging as patients may be overweight with associated consequences, or malnourished, or underweight. Furthermore, drugs used to treat LSDs can modify the metabolic status and needs of patients. There are currently not enough data to make specific dietary recommendations for individual LSDs; however, suggestions can be made for managing clinical manifestations of the diseases, as well as treatment-associated adverse events. The metabolic and nutritional status of adult patients must be regularly assessed and individualized dietary plans may be created to cater to a patient's specific needs. Damage to the autophagic process is a common feature in LSDs that is potentially sensitive to dietary manipulation and needs to be assessed in clinical studies.


Subject(s)
Energy Metabolism , Lysosomal Storage Diseases/diet therapy , Malnutrition/prevention & control , Nutritional Status , Nutritional Support , Obesity/prevention & control , Humans , Lysosomal Storage Diseases/diagnosis , Lysosomal Storage Diseases/epidemiology , Lysosomal Storage Diseases/physiopathology , Malnutrition/diagnosis , Malnutrition/epidemiology , Malnutrition/physiopathology , Obesity/diagnosis , Obesity/epidemiology , Obesity/physiopathology , Treatment Outcome
16.
Endosc Int Open ; 8(10): E1252-E1263, 2020 Oct.
Article in English | MEDLINE | ID: mdl-33015326

ABSTRACT

Background and study aims Outcomes of endoscopic assessment and management of large colorectal (CR) non-pedunculated lesions (LNPLs) are still under evaluation, especially in Western settings. We analyzed the clinical impact of changes in LNPL management over the last decade in a European center. Patients and methods All consecutive LNPLs ≥ 20 mm endoscopically assessed (2008-2019) were retrospectively included. Lesion, patient, and resection characteristics were compared among clinically relevant subgroups. Multivariate logistic regression (for predictors of submucosal invasion [SMI] and recurrence), Kaplan-Meier curves and ROC curves (for temporal cut-offs in trends analyses) were used. Results A total of 395 LNPLs were included (30 mm [range 20-40]; SMI = 9.6 %; primary endoscopic resection [ER] = 88.4 %). Pseudo-depression and JNET classification independently predicted SMI beyond single morphologies/location. After complete ER, involvement of ileocecal valve/dentate line, piece-meal resection and high-grade dysplasia independently predicted recurrence. Rates of 5-year recurrence-free, surgery-free and cancer-free survival were 77.5 %, 98.6 % and 100 %, respectively, with 93.8 % recurrences endoscopically managed and no death attributable to ER or CR cancer (versus 3.4 % primary surgery mortality). ROC curves identified the period ≥ 2015 (following Endoscopic Submucosal Dissection [ESD] introduction and education on pre-resective lesion assessment) as associated with improved lesions' characterization, increased en-bloc resection of SMI lesions (87.5 % vs 37.5 %; p = 0.0455), reduced primary surgery (7.5 % vs 16.7 %; p = 0.0072), surgical referral of benign lesions (5.1 % vs 14.8 %; p = 0.0019), and recurrences. Conclusions ESD introduction and educational interventions allowed ER of more complex lesions, offset by increased complementary surgery for complications or intrinsic histological risk. Nevertheless, overall, they have reduced surgery demand and increased appropriateness and safety of LNPL management in our center.

17.
Nutr Metab Cardiovasc Dis ; 30(12): 2312-2319, 2020 11 27.
Article in English | MEDLINE | ID: mdl-32912783

ABSTRACT

BACKGROUND AND AIMS: The most used indicator for the renal function is the glomerular filtration rate (GFR). Current used predictive GFR equations were calibrated on patients with chronic kidney disease. Thus, they are not very precise in healthy individuals. The estimation of skeletal muscle mass (SMM) allows the prediction of the daily urinary creatinine excretion (24hUCrE). This study proposes an equation for the estimation of GFR based on SMM (eGFRMuscle) and serum creatinine (SCr). METHODS AND RESULTS: Four hundred sixty-six free-living men underwent a bioelectrical impedance analysis for the evaluation of SMM (kg), a blood withdrawal for the measurement of SCr (mg/dL), and a 24-h urinary collection for the assessment of 24hUCrE (g/24 h). The linear regression analysis between SMM and 24hUCrE and the measurement of SCr allowed developing a predictive equation of eGFRMuscle. The equation predicting eGFRMuscle (ml/min/1.73 m2) was SMM (kg) × 3.06/SCr (mg/dL). eGFRMuscle was statistically different from eGFR predicted by Cockroft-Gault, MDRD Study, and CKD-EPI equations (p = 0.017, p < 0.001, and p < 0.001, respectively). Pairwise comparison of standard error of the area under the ROC curve (AUC) of eGFRMuscle with all the other AUCs of ROC curves highlighted significant differences. CONCLUSIONS: The equation presented in this study results in age, weight, gender, and ethnicity independent because it arises directly from SMM estimation. Therefore, the proposed equation could allow evaluating the GFR also in healthy people with low, average, or high weight, and in older people, regardless of GFR and SCr levels.


Subject(s)
Body Composition , Creatinine/blood , Creatinine/urine , Glomerular Filtration Rate , Kidney/physiology , Models, Biological , Muscle, Skeletal/physiology , Adult , Aged , Aged, 80 and over , Biomarkers/blood , Biomarkers/urine , Electric Impedance , Healthy Volunteers , Humans , Male , Middle Aged , Organ Size , Predictive Value of Tests , Reproducibility of Results , Time Factors
18.
Orphanet J Rare Dis ; 15(1): 262, 2020 09 23.
Article in English | MEDLINE | ID: mdl-32967694

ABSTRACT

BACKGROUND: How to address the counseling of lifetime risk of developing Parkinson's disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In addition, there is no set way of managing Gaucher disease patients, taking into account the possibility that they may show features of Parkinson's disease. METHODS: Starting from an overview on what has recently changed in our knowledge on this issue and grouping the experiences of healthcare providers of Gaucher disease patients, we outline a path of counseling and management of Parkinson's disease risk in Gaucher disease patients and their relatives. CONCLUSION: The approach proposed here will help healthcare providers to communicate Parkinson's disease risk to their patients and will reduce the possibility of patients receiving inaccurate information from inadequate sources. Furthermore, this resource will help to empower healthcare providers to identify early signs and/or symptoms of Parkinson's disease and decide when to refer these patients to the neurologist for appropriate specific therapy and follow-up.


Subject(s)
Counseling , Gaucher Disease , Parkinson Disease , Adult , Child , Family Health , Gaucher Disease/complications , Gaucher Disease/genetics , Glucosylceramidase/genetics , Humans , Parkinson Disease/complications , Quality of Life
19.
Am J Clin Nutr ; 109(4): 1080-1087, 2019 04 01.
Article in English | MEDLINE | ID: mdl-30982855

ABSTRACT

BACKGROUND: Iodine is an essential micronutrient for intellectual development in children. Information on iodine intakes based on 24-h urinary iodine excretion (UIE) is scant, because iodine status is only assessed by the measurement of urinary iodine concentration (UIC) in spot urine samples. OBJECTIVES: The aim of our study was to evaluate the iodine intake of school-age children and adolescents, using UIE measurement in 24-h urine collections. METHODS: The study population included 1270 healthy subjects (677 boys, 593 girls) aged 6-18 y (mean age ± SD: 10.3 ± 2.9) from 10 Italian regions. Daily iodine intake was estimated as UIE/0.92, based on the notion that $\sim$92% of the dietary iodine intake is absorbed. The adequacy of intakes was assessed according to the Dietary Reference Values for iodine of the European Food Safety Authority (EFSA). Body mass index (BMI) and UIC were also measured for each subject. RESULTS: Based on the scientific opinion of EFSA, 600 of 1270 subjects (47.2%) had a lower than adequate iodine intake, with a higher prevalence among girls (54.6%) compared with boys (40.2%) (P < 0.001). Although UIE and 24-h urinary volumes increased with age (P < 0.001), a progressive decrease in the percentage of subjects with iodine excretion <100 µg/24 h (P < 0.001) was observed, without any significant difference in the percentage of subjects with UIC <100 µg/L. No significant association was detected between BMI z-score and UIE (P = 0.603) or UIC (P = 0.869). CONCLUSIONS: A sizable proportion of our population, especially girls, appeared to be at risk of iodine inadequacy. The simple measurement of UIC could lead to underestimation of the occurrence of iodine deficiency in younger children, because of the age-related smaller urine volumes producing spuriously higher iodine concentrations.


Subject(s)
Iodine/deficiency , Iodine/urine , Adolescent , Body Mass Index , Child , Female , Humans , Italy , Male , Micronutrients/deficiency , Micronutrients/urine , Nutritional Status
20.
Kidney Blood Press Res ; 44(1): 33-42, 2019.
Article in English | MEDLINE | ID: mdl-30808835

ABSTRACT

BACKGROUND/AIMS: Association between cigarette smoke and albuminuria (UA) was already demonstrated in cross-sectional studies and in selected population samples (i.e diabetic patients). This study aims to evaluate, prospectively, the relationship between cigarette smoke and UA in a male adult population sample, with basal normal kidney function, participating in the Olivetti Heart Study (OHS). METHODS: Among 994 participants, examined in both 1994-95 and 2002-04, were selected those resulted in both visits smokers (n=221) and non-smokers (n=416) and with basal normal kidney function (GFR> 60 mL/min) and basal albumin/creatinine ratio (ACR< 30 mg/g). RESULTS: At baseline, the prevalence of hypertension was 41%, diabetes affected 6.3% and obesity 17% of the whole sample. Smokers showed statistically significant lower levels of systolic (SBP) and diastolic blood pressure (DBP) and BMI (p< 0.001) compared to non-smokers. There were not basal differences in UA, GFR and metabolic profile. However, at follow-up examination, smokers showed a statistically significant increase in SBP and DBP (p< 0.05), but not in GFR and BMI. Moreover, smokers showed a higher risk compared to non-smokers to be in the higher median levels group of UA (OR: 2.17, C.I.95%: 1.51-3.13; p < 0.001), even after correction for major confounding factors. Further adjustment for basal antihypertensive and hypoglycemic treatment did not change these patterns of association. CONCLUSION: In a selected male adult population sample, cigarette smoke was independently associated with the development of higher levels of albuminuria over time.


Subject(s)
Albuminuria/etiology , Cigarette Smoking/adverse effects , Adult , Aged , Blood Pressure/drug effects , Body Mass Index , Follow-Up Studies , Glomerular Filtration Rate/drug effects , Humans , Male , Middle Aged , Risk , Time Factors
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