43 research outputs found
La diagnosi precoce di malattia
Early diagnosis in Fabry's disease Aderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha- Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide spectrum of clinical manifestations. Patients are often misdiagnosed or diagnosed late in their life. This is due to the phenotypic heterogeneity, the poor awareness of this rare disease, and many pitfalls when making a differential diagnosis, in adulthood, as well as in the early stages. Delayed diagnosis has significant clinical implications, because the progression of the disease over time can lead to irreversible end-stage renal disease and life-threatening cardiovascular or cerebrovascular complications. Early diagnosis remains essential in order to start an early treatment and reduce the progression of the disease, thus maximizing the chance to improve patient outcomes. Newborn screening, high-risk patients' identification, and increasing pediatricians' and clinicians' knowledge on this condition, are good strategies to avoid late referrals of Anderson-Fabry patients to reference center
A novel approach for the treatment of resistant hypertension
Abstract non disponibil
Fusarium solani infection after antimicrobial treatment of a severe bacterial peritonitis: a case report and review of the literature
Fungal peritonitis is a rare but serious complication of peritoneal dialysis. This infection has been reported to be mostly caused by Candida species, and less frequently by a variety of other yeasts and moulds, such as Aspergillus, Penicillium, and Β Fusarium spp. are commonly isolated from soil, plants and environmental surfaces, and rarely from non-immunosuppressed subjects. In this report, author describe a case of infection caused by Fusarium solani in a 59-year-old man undergoing continuous ambulatory peritoneal dialysis. The fungus was recovered from cultures of peritoneal dialysate and the pathogen identification was carried out by mass spectrometry. The patient's outcome was favorable without complications after liposomal amphotericin B treatment along with peritoneal dialysis catheter removal
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events.ResultsIn p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25-34Β years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55-64Β years. Severe clinical events in p.N215S patients were mainly cardiac (males 31%, females 8%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17% of p.N215S males (mostly in patients aged 65-74Β years), and rarely in females (3%).Conclusionp.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males
A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients
Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation
ΠΠ½Π΄Π΅ΠΊΡ ΡΡΠ°Π±ΠΈΠ»ΠΈΠ·Π°ΡΠΈΠΈ Π€Π°Π±ΡΠΈ (FASTEX): ΠΈΠ½Π½ΠΎΠ²Π°ΡΠΈΠΎΠ½Π½ΡΠΉ ΠΈΠ½ΡΡΡΡΠΌΠ΅Π½Ρ Π΄Π»Ρ ΠΎΡΠ΅Π½ΠΊΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡΠ°Π±ΠΈΠ»ΠΈΠ·Π°ΡΠΈΠΈ ΠΏΡΠΈ Π±ΠΎΠ»Π΅Π·Π½ΠΈ Π€Π°Π±ΡΠΈ
ΠΠ° ΡΠ΅Π³ΠΎΠ΄Π½ΡΡΠ½ΠΈΠΉ Π΄Π΅Π½Ρ ΠΏΡΠ΅Π΄Π»ΠΎΠΆΠ΅Π½Ρ 2 ΡΠΈΡΡΠ΅ΠΌΡ ΠΊΠΎΠ»ΠΈΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠΈ Π±ΡΠ΅ΠΌΠ΅Π½ΠΈ Π³Π»ΠΈΠΊΠΎΠ³Π΅Π½ΠΎΠ·Π° Ρ Π΄Π΅ΡΠΈΡΠΈΡΠΎΠΌ Ξ±-Π³Π°Π»Π°ΠΊΡΠΎΠ·ΠΈΠ΄Π°Π·Ρ: ΠΈΠ½Π΄Π΅ΠΊΡ ΠΎΡΠ΅Π½ΠΊΠΈ ΡΡΠ΅ΠΏΠ΅Π½ΠΈ ΡΡΠΆΠ΅ΡΡΠΈ ΠΠ°ΠΉΠ½ΡΠ° (MSSI) ΠΈ ΡΠΈΡΡΠ΅ΠΌΠ° Π±Π°Π»Π»ΡΠ½ΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠΈ ΡΡΠΆΠ΅ΡΡΠΈ Π±ΠΎΠ»Π΅Π·Π½ΠΈ Π€Π°Π±ΡΠΈ (DS3). Π‘Π΄Π΅Π»Π°Π½Π° ΠΏΠΎΠΏΡΡΠΊΠ° ΡΠ°Π·ΡΠ°Π±ΠΎΡΠ°ΡΡ Π΄ΠΈΠ½Π°ΠΌΠΈΡΠ΅ΡΠΊΡΡ ΠΌΠ°ΡΠ΅ΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΡΡ ΠΌΠΎΠ΄Π΅Π»Ρ FASTEX (ΠΎΡ Π°Π½Π³Π». FAbry STabilization indEX, ΠΈΠ½Π΄Π΅ΠΊΡ ΡΡΠ°Π±ΠΈΠ»ΠΈΠ·Π°ΡΠΈΠΈ Π€Π°Π±ΡΠΈ) Π΄Π»Ρ ΠΎΡΠ΅Π½ΠΊΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡΠ°Π±ΠΈΠ»ΡΠ½ΠΎΡΡΠΈ ΡΠΎΡΡΠΎΡΠ½ΠΈΡ. ΠΡΠ»ΡΡΠΈΠ΄ΠΈΡΡΠΈΠΏΠ»ΠΈΠ½Π°ΡΠ½Π°Ρ Π³ΡΡΠΏΠΏΠ° ΡΠΊΡΠΏΠ΅ΡΡΠΎΠ² ΠΏΠΎ Π±ΠΎΠ»Π΅Π·Π½ΠΈ Π€Π°Π±ΡΠΈ Π²ΠΏΠ΅ΡΠ²ΡΠ΅ ΠΏΡΠ΅Π΄Π»ΠΎΠΆΠΈΠ»Π° Π½ΠΎΠ²ΡΡ ΡΠΊΠ°Π»Ρ ΠΎΡΠ΅Π½ΠΊΠΈ ΡΡΠΆΠ΅ΡΡΠΈ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ ΠΏΠΎ ΠΏΡΠ΅Π΄Π²Π°ΡΠΈΡΠ΅Π»ΡΠ½ΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠ΅ (ΠΎΡ Π°Π½Π³Π». raw score, RS), ΠΎΡΠ½ΠΎΠ²Π°Π½Π½ΡΡ Π½Π° 3 Π΄ΠΎΠΌΠ΅Π½Π°Ρ
(Π΄ΠΎΠΌΠ΅Π½ Π½Π΅ΡΠ²Π½ΠΎΠΉ ΡΠΈΡΡΠ΅ΠΌΡ (Π±ΠΎΠ»Ρ, ΡΠ΅ΡΠ΅Π±ΡΠΎΠ²Π°ΡΠΊΡΠ»ΡΡΠ½ΡΠ΅ ΡΠΎΠ±ΡΡΠΈΡ), ΠΏΠΎΡΠ΅ΡΠ½ΡΠΉ Π΄ΠΎΠΌΠ΅Π½ (ΠΏΡΠΎΡΠ΅ΠΈΠ½ΡΡΠΈΡ, ΡΠΊΠΎΡΠΎΡΡΡ ΠΊΠ»ΡΠ±ΠΎΡΠΊΠΎΠ²ΠΎΠΉ ΡΠΈΠ»ΡΡΡΠ°ΡΠΈΠΈ), ΡΠ΅ΡΠ΄Π΅ΡΠ½ΡΠΉ Π΄ΠΎΠΌΠ΅Π½ (ΠΏΠ°ΡΠ°ΠΌΠ΅ΡΡΡ ΡΡ
ΠΎΠΊΠ°ΡΠ΄ΠΈΠΎΠ³ΡΠ°ΡΠΈΠΈ, ΡΠ»Π΅ΠΊΡΡΠΎΠΊΠ°ΡΠ΄ΠΈΠΎΠ³ΡΠ°ΡΠΈΠΈ ΠΈ ΡΡΠ΅ΠΏΠ΅Π½Ρ ΡΠ΅ΡΠ΄Π΅ΡΠ½ΠΎΠΉ Π½Π΅Π΄ΠΎΡΡΠ°ΡΠΎΡΠ½ΠΎΡΡΠΈ ΠΏΠΎ ΠΊΠ»Π°ΡΡΠΈΡΠΈΠΊΠ°ΡΠΈΠΈ ΠΡΡ-ΠΠΎΡΠΊΡΠΊΠΎΠΉ ΠΊΠ°ΡΠ΄ΠΈΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠΉ Π°ΡΡΠΎΡΠΈΠ°ΡΠΈΠΈ)) Ρ Π½Π΅Π±ΠΎΠ»ΡΡΠΈΠΌ ΡΠΈΡΠ»ΠΎΠΌ ΠΏΡΠ½ΠΊΡΠΎΠ² Π² ΠΊΠ°ΠΆΠ΄ΠΎΠΌ ΠΈΠ· Π½ΠΈΡ
ΠΈ ΠΎΡΠ΅Π½ΠΊΠΎΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡΠ°Π±ΠΈΠ»ΡΠ½ΠΎΡΡΠΈ Π²ΠΎ Π²ΡΠ΅ΠΌΠ΅Π½ΠΈ. RS ΠΏΡΠΎΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½Π° Π½Π° 28 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ°Ρ
(15 ΠΌΡΠΆΡΠΈΠ½ ΠΈ 13 ΠΆΠ΅Π½ΡΠΈΠ½) Ρ ΠΊΠ»Π°ΡΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΠΎΡΠΌΠΎΠΉ Π±ΠΎΠ»Π΅Π·Π½ΠΈ Π€Π°Π±ΡΠΈ. ΠΠΎΠ»ΡΡΠ΅Π½Π° ΡΠΈΠ»ΡΠ½Π°Ρ ΠΊΠΎΡΡΠ΅Π»ΡΡΠΈΠΎΠ½Π½Π°Ρ ΡΠ²ΡΠ·Ρ ΠΏΡΠ΅Π΄Π»ΠΎΠΆΠ΅Π½Π½ΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠΈ RS ΠΈ Π²Π·Π²Π΅ΡΠ΅Π½Π½ΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠΈ (ΠΎΡ Π°Π½Π³Π». weighted score, WS) Ρ DS3 ΠΈ MSSI (r2 = 0,914; 0,949; 0,910 ΠΈ 0,938 ΡΠΎΠΎΡΠ²Π΅ΡΡΡΠ²Π΅Π½Π½ΠΎ). ΠΠ»Ρ ΡΡΠΎΡΠ½Π΅Π½ΠΈΡ RS Π±ΡΠ»Π° ΡΠ°ΡΡΡΠΈΡΠ°Π½Π° WS, Π²ΡΡΠ°ΠΆΠ°Π΅ΠΌΠ°Ρ Π² ΠΏΡΠΎΡΠ΅Π½ΡΠ°Ρ
. WS Π±ΡΠ»Π° ΠΎΡΠ½ΠΎΠ²Π°Π½Π° Π½Π° ΠΎΡΠ½ΠΎΡΠΈΡΠ΅Π»ΡΠ½ΠΎΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ Π·Π½Π°ΡΠΈΠΌΠΎΡΡΠΈ ΠΊΠ°ΠΆΠ΄ΠΎΠ³ΠΎ ΠΏΡΠ½ΠΊΡΠ° Π² ΠΏΡΠ΅Π΄Π΅Π»Π°Ρ
Π΄ΠΎΠΌΠ΅Π½Π°, ΠΏΡΠΈ ΡΡΠΎΠΌ Π³ΡΡΠΏΠΏΠ° ΡΠΊΡΠΏΠ΅ΡΡΠΎΠ² ΡΠΎΠ³Π»Π°ΡΠΎΠ²ΡΠ²Π°Π»Π° ΠΏΡΠΈΡΠ²ΠΎΠ΅Π½ΠΈΠ΅ ΡΠ°Π·Π½ΠΎΠ³ΠΎ Π²Π΅ΡΠ° ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ Π²ΡΠ΅Π΄Π° ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΠΎΠΉ ΡΠΈΡΡΠ΅ΠΌΠ΅ ΠΎΡΠ³Π°Π½ΠΎΠ². ΠΠ»Ρ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΡ Π΄ΠΈΠ½Π°ΠΌΠΈΠΊΠΈ ΡΡΠΆΠ΅ΡΡΠΈ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ RS Π±ΡΠ»Π° ΠΏΠΎΠ²ΡΠΎΡΠ½ΠΎ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½Π° ΡΠ΅ΡΠ΅Π· 1 Π³ΠΎΠ΄. ΠΡΡΠΏΠΏΠ° ΡΠΊΡΠΏΠ΅ΡΡΠΎΠ² ΡΠΎΠ³Π»Π°ΡΠΈΠ»Π°ΡΡ Ρ ΠΏΠΎΡΠΎΠ³ΠΎΠ²ΡΠΌ ΠΎΠ³ΡΠ°Π½ΠΈΡΠ΅Π½ΠΈΠ΅ΠΌ Π² 20 % ΠΎΡ ΠΈΡΡ
ΠΎΠ΄Π½ΠΎΠ³ΠΎ ΡΡΠΎΠ²Π½Ρ Π² ΠΊΠ°ΡΠ΅ΡΡΠ²Π΅ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ WS Π΄Π»Ρ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡΠ°Π±ΠΈΠ»ΡΠ½ΠΎΡΡΠΈ. ΠΠΎΠ΄Π΅Π»Ρ FASTEX ΠΏΠΎΠΊΠ°Π·Π°Π»Π° Ρ
ΠΎΡΠΎΡΡΡ ΠΊΠΎΡΡΠ΅Π»ΡΡΠΈΡ Ρ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΎΡΠ΅Π½ΠΊΠΎΠΉ ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΠΈΠ·ΠΌΠ΅Π½Π΅Π½ΠΈΠ΅ΠΌ Π½Π° ΠΏΡΠΎΡΡΠΆΠ΅Π½ΠΈΠΈ Π²ΡΠ΅ΠΌΠ΅Π½ΠΈ Ρ Π²ΡΠ΅Ρ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ².Β
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Abstract
Objectives
Fabry disease (FD) is an X-linked lysosomal storage disorder, resulting from a deficiency of the enzyme Ξ±-galactosidase A, responsible for breaking down glycolipids such as globotriaosylceramide and its deacylated derivative, globotriaosylsphingosine (LysoGb3). Here, we compare the levels of LysoGb3 in dried blood spots (DBS) and plasma in patients with classic and late-onset phenotypes.
Methods
LysoGb3 measurements were performed in 104 FD patients, 39 males and 65 females. Venous blood was collected. A portion was spotted onto filter paper and another portion separated to obtain plasma. The LysoGb3 concentrations in DBS and plasma were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry. Agreement between different matrices was assessed using linear regression and Bland Altman analysis.
Results
The method on DBS was validated by evaluating its precision, accuracy, matrix effect, recovery, and stability. The analytical performances were verified by comparison of a total of 104 paired DBS and plasma samples from as many FD patients (representing 46 GLA variants). There was a strong correlation between plasma and the corresponding DBS LysoGb3 concentrations, with few exceptions. Discrepancies were observed in anemic patients with typically low hematocrit levels compared to the normal range.
Conclusions
The method proved to be efficient for the rapid analysis of LysoGb3. DBS provides a convenient, sensitive, and reproducible method for measuring LysoGb3 levels for diagnosis, initial phenotypic assignment, and therapeutic monitoring in patients with FD
ANCA-associated vasculitis in childhood: Recent advances
Abstract Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegenerβs), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome). Their clinical presentation is often heterogeneous, with frequent involvement of the respiratory tract, the kidney, the skin and the joints. ANCA-associated vasculitis is rare in childhood but North-American and European cohort studies performed during the last decade have clarified their phenotype, patterns of renal involvement and their prognostic implications, and outcome. Herein, we review the main clinical and therapeutic aspects of childhood-onset ANCA-associated vasculitis, and provide preliminary data on demographic characteristics and organ manifestations of an Italian multicentre cohort
Ruolo dei nervi renali nel controllo neuroumorale dell'omeostasi cardiocircolatoria
Dottorato di ricerca in fisiopatologia cardiovascolare. 7. ciclo. A.a. 1991-95. Coordinatore A. Zanchetti. Tutore A. StellaConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal