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1.
J Eur Acad Dermatol Venereol ; 36(12): 2473-2481, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35857348

RESUMEN

INTRODUCTION: Bullous pemphigoid is the most common autoimmune bullous dermatosis. In recent years several studies have tried to identify the main factors of the disease related with an increased risk of death. The aim of this multicenter Italian study was to assess the risk score of death considering epidemiologic, clinical, immunological, and therapeutic factors in a cohort of patients affected by bullous pemphigoid and try to identify the cumulative survival up to 120 months. METHODS: We retrospectively reviewed the medical records of patients with bullous pemphigoid who were diagnosed between 2005 and 2020 in the 12 Italian centers. Data collected included sex, age at the time of diagnosis, laboratory findings, severity of disease, time at death/censoring, treatment, and multimorbidity. RESULTS: A total of 572 patients were included in the study. The crude mortality rate was 20.6%, with an incidence mortality rate of 5.9 × 100 person/year. The mortality rate at 1, 3, 5, and 10 years was 3.2%, 18.2%, 27.4% and 51.9%, respectively. Multivariate model results showed that the risk of death was significantly higher in patients older than 78 years, in presence of multimorbidity, anti-BP180 autoantibodies >72 U/mL, or anti-BP230 > 3 U/mL at diagnosis. The variables jointly included provided an accuracy (Harrel's Index) of 77% for predicting mortality. CONCLUSION: This study represents the first nationwide Italian study to have retrospectively investigated the mortality rates and prognostic factors in patients with bullous pemphigoid. A novel finding emerged in our study is that a risk prediction rule based on simple risk factors (age, multimorbidity, steroid-sparing drugs, prednisone use, and disease severity) jointly considered with two biomarkers routinely measured in clinical practice (anti-BP230 and anti-BP180 autoantibodies) provided about 80% accuracy for predicting mortality in large series of patients with this disease.


Asunto(s)
Penfigoide Ampolloso , Humanos , Penfigoide Ampolloso/diagnóstico , Colágenos no Fibrilares , Estudios Retrospectivos , Autoantígenos , Pronóstico , Autoanticuerpos
2.
Eur J Neurol ; 25(5): 711-717, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29359374

RESUMEN

BACKGROUND AND PURPOSE: Misdiagnosis of refractory epilepsy (rE) is common and such patients experience a long diagnostic delay. Our aim was to identify key clinical/laboratory factors in order to obtain an alternative diagnosis in patients referred for rE. METHODS: Between January 2010 and December 2015, 125 consecutive patients with a diagnosis of rE were prospectively enrolled. All patients underwent a comprehensive neurological, neuropsychiatric and cardiological evaluation, and had an observation time of at least 1 year after the study entry. RESULTS: Diagnosis of rE was confirmed in 104/125 (83.2%) patients (55 women, mean age 38.8 ± 14.3 years). Thirteen/125 patients (10.4%, seven women, mean age 50.8 ± 20.9) were diagnosed with syncope, which was cardiac/cardio inhibitory in 9/13 (69%). The remaining 8/125 patients (6.4%, six women, mean age 41.2 ± 14.6 years) were diagnosed with psychogenic non-epileptic seizures. Age at onset had a high accuracy in differentiating patients with syncope from others, with the best cut-off age at 35 years and above. Abnormal brain magnetic resonance imaging (MRI) had a significant yield of about 70% in rE. A diagnostic model including age at onset and brain MRI was highly accurate in differentiating patients with syncope from others. In patients with cardiac/cardio inhibitory syncope, the point score of historical features was ≥1 and falsely favoured the diagnosis of epileptic seizures. CONCLUSIONS: This prospective cohort study identifies rE mimics who are at high risk of morbidity and mortality. rE starting in adulthood should raise a high suspicion of cardiac syncope. Brain MRI is accurate in differentiating rE from other conditions.


Asunto(s)
Encéfalo/diagnóstico por imagen , Epilepsia Refractaria/diagnóstico , Convulsiones/diagnóstico , Síncope/diagnóstico , Adulto , Edad de Inicio , Anciano , Estudios de Cohortes , Diagnóstico Tardío , Diagnóstico Diferencial , Errores Diagnósticos , Epilepsia Refractaria/diagnóstico por imagen , Electroencefalografía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Convulsiones/diagnóstico por imagen , Síncope/diagnóstico por imagen
3.
Neurol Sci ; 38(Suppl 1): 7-10, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28527065

RESUMEN

A few clinic-based magnetic resonance imaging studies report an increased risk of signal abnormalities in migraineurs brain's white matter, especially in migraine with aura subjects. A vascular genesis has been hypnotized and migraine with aura was considered an independent risk factor for stroke. Available data of magnetic resonance imaging alterations are often nonspecific and sometimes controversial. The aim of our study is to investigate migraine with aura patients with standardized brain magnetic resonance imaging to detect and to quantify the presence of white matter lesions and to analyze their relation with clinical data. We report preliminary data about first 90 subjects. We did not recognize any clinical aspect in close relationship with these alterations. The only clinical feature that seems to play a role in the presence of alterations is the age, and only in migraineurs women.


Asunto(s)
Imagen por Resonancia Magnética , Migraña con Aura/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen , Adolescente , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Estadística como Asunto/métodos , Adulto Joven
4.
J Chem Phys ; 143(2): 024306, 2015 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-26178104

RESUMEN

The galvanic displacement deposition of silver on H-terminated Si (100) in the time scale of seconds is instantaneous and characterized by a cluster density of 10(11)-10(12) cm(-2). The amount of deposited Ag follows a t(1/2) dependence in agreement with a Cottrell diffusion limited mechanism. At the same time, during the deposition, the cluster density reduces by a factor 5. This behavior is in contrast with the assumption of immobile clusters. We show in the present work that coalescence and aggregation occur also in the samples immersed in the diluted hydrofluoric acid (HF) solution without the presence of Ag(+). Clusters agglomerate according to a process of dynamic coalescence, typical of colloids, followed by atomic redistribution at the contact regions with the generation of multiple internal twins and stacking-faults. The normalized size distributions in terms of r/rmean follow also the prediction of the Smoluchowski ripening mechanism. No variation of the cluster density occurs for samples immersed in pure H2O solution. The different behavior might be associated to the strong attraction of clusters to oxide-terminated Si surface in presence of water. The silver clusters are instead weakly bound to hydrophobic H-terminated Si in presence of HF. HF causes then the detachment of clusters and a random movement on the silicon surface with mobility of about 10(-13) cm(2)/s. Attractive interaction (probably van der Waals) among particles promotes coarsening.

5.
Nutr Metab Cardiovasc Dis ; 24(10): 1137-43, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24984824

RESUMEN

BACKGROUND AND AIMS: Pro-inflammatory molecules produced by adipose tissue have been implicated in the risk of cardiovascular (CV) disease in obesity. We investigated the expression profile of 19 pro-inflammatory and seven anti-inflammatory genes in subcutaneous adipose tissue (SAT) and in visceral adipose tissue (VAT) in 44 severely obese individuals who underwent bariatric surgery. METHODS AND RESULTS: SAT and VAT expressed an identical series of pro-inflammatory genes. Among these genes, 12 were significantly more expressed in SAT than in VAT while just one (IL18) was more expressed in VAT. The remaining genes were equally expressed. Among pro-inflammatory cytokines, both IL6 and IL8 were about 20 times more intensively expressed in SAT than in VAT. The expression of nine genes was highly associated in SAT and VAT. Only for three pro-inflammatory cytokines (IL8, IL18, SAA1) in SAT the gene expression in adipose tissue associated with the circulating levels of the corresponding gene products while no such an association was found as for VAT. CONCLUSIONS: The expression of critical pro-inflammatory genes is substantially higher in SAT than in VAT in individuals with morbid obesity. The variability in circulating levels of pro-inflammatory cytokines is, in small part and just for three pro-inflammatory cytokines, explained by underlying gene expression in SAT but not in VAT. These results point to a compartment-specific adipose tissue contribution to inflammation in obesity and indicate that abdominal SAT contributes more than VAT to the pro-inflammatory milieu associated with severe obesity.


Asunto(s)
Citocinas/genética , Inflamación/genética , Grasa Intraabdominal/metabolismo , Obesidad Mórbida/genética , Grasa Subcutánea/metabolismo , Adulto , Cirugía Bariátrica , Índice de Masa Corporal , Citocinas/metabolismo , Femenino , Expresión Génica , Humanos , Inflamación/metabolismo , Interleucina-16/genética , Interleucina-16/metabolismo , Interleucina-18/genética , Interleucina-18/metabolismo , Masculino , Persona de Mediana Edad , Obesidad Mórbida/cirugía , Proteína Amiloide A Sérica/genética , Proteína Amiloide A Sérica/metabolismo
7.
Eur Rev Med Pharmacol Sci ; 25(1): 406-412, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33506930

RESUMEN

OBJECTIVE: Guselkumab is a fully human monoclonal IgG1 antibody which, by selectively binding to the p19 subunit of IL-23, prevents it from binding to the IL-23 receptor on the cell surfaces. To date, no prospective data are available on the efficacy and safety of this drug in everyday clinical practice in patients with psoriasis (PSO). MATERIALS AND METHODS: This is a longitudinal, single arm, real-world, prospective study to investigate the effect of Guselkumab on PSO and quality of life (DLQI) in 44 PSO patients. Outcomes were PASI, BSA, DLQI at 3 and 6 months. RESULTS: The longitudinal analysis showed that PASI improved from a median value of 24.1 at baseline to 2.0 at 6-months and this was also true for BSA (from 23.0 to 2.0) and DLQI (from 24.0 to 2.5) (all p<0.001). At 6-months, PASI75, PASI90 and PASI100 were 95.5%, 59.1% and 16%, respectively. The PSO improvement related with the increase of DLQI (∆PASI vs. ∆DLQI, r=0.77, p<0.001). No clinically relevant adverse events were observed. CONCLUSIONS: This study demonstrates the effectiveness and safety of Guselkumab on PSO in real world and shows that the reduction of PSO severity due to the drug is directly related with the improvement of quality of life in this patient population.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Psoriasis/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/administración & dosificación , Estudios de Cohortes , Femenino , Humanos , Inyecciones Subcutáneas , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Calidad de Vida , Factores de Tiempo , Resultado del Tratamiento
8.
Eur J Vasc Endovasc Surg ; 40(1): 71-5, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20403714

RESUMEN

OBJECTIVE: To evaluate the incidence of sexual dysfunction and retrograde ejaculation after elective endovascular aneurysm repair (EVAR) and hand-assisted laparoscopic surgery (HALS) for abdominal aortic aneurysm (AAA). METHODS: A total of 100 patients eligible for elective repair of infrarenal AAAs were randomised in two groups: EVAR and HALS. The quality of sexual function was evaluated using the International Index of Erectile Function (IIEF), a 15-item questionnaire. Patients completed the IIEF preoperatively and at 12 months. The incidence of retrograde ejaculation was also evaluated. RESULTS: One- and 12-month mortality rates were zero. Three patients in the EVAR group (6%) and two patients in the HALS group (4%) reported an erectile dysfunction (p = NS). The quality of sexual function at 1 year was similar in both groups: total score of 66 in the EVAR group versus 68 in the HALS group (p = 0.66). Retrograde ejaculation was detected in three cases in the HALS group versus no case in the EVAR group. CONCLUSIONS: The HALS technique could be a minimally invasive alternative for sexually active males unsuitable for EVAR repair.


Asunto(s)
Aneurisma de la Aorta Abdominal/cirugía , Implantación de Prótesis Vascular/efectos adversos , Laparoscopía/efectos adversos , Disfunciones Sexuales Fisiológicas/etiología , Anciano , Implantación de Prótesis Vascular/métodos , Eyaculación , Procedimientos Quirúrgicos Electivos , Disfunción Eréctil/etiología , Humanos , Masculino , Persona de Mediana Edad , Disfunciones Sexuales Fisiológicas/fisiopatología , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento
9.
Eur Phys J E Soft Matter ; 29(1): 37-43, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19347679

RESUMEN

The small-angle neutron scattering (SANS) of some aqueous solutions of short-chain amphiphiles (glycols, diglycols, diols) has been measured as a function of concentration and temperature. The analysis of the spectra in terms of the Teubner-Strey phenomenological formula indicates that, on increasing the concentration of the amphiphile, the structure of all these systems evolves in a similar way, i.e. a transition from disordered structures toward correlated aggregates (microstructures). The transition is depressed by increasing the temperature.

10.
J Med Genet ; 44(12): 750-62, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17766364

RESUMEN

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in patients with an abnormal phenotype, and after array CGH analysis, 11 were found to be unbalanced. Thus 40% (11 of 27) of patients with a "chromosomal phenotype" and an apparently balanced translocation were in fact unbalanced, and 18% (5 of 27) of the reciprocal translocations were instead complex rearrangements with >3 breakpoints. Fourteen fetuses with de novo, apparently balanced translocations, all but two with normal ultrasound findings, were also analysed and all were found to be normal using array CGH. Thirteen CCRs were detected in patients with abnormal phenotypes, two in women who had experienced repeated spontaneous abortions and three in fetuses. Sixteen patients were found to have unbalanced mutations, with up to 4 deletions. These results suggest that genome-wide array CGH may be advisable in all carriers of "balanced" CCRs. The parental origin of the deletions was investigated in 5 reciprocal translocations and 11 CCRs; all were found to be paternal. Using customized platforms in seven cases of CCRs, the deletion breakpoints were narrowed down to regions of a few hundred base pairs in length. No susceptibility motifs were associated with the imbalances. These results show that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis.


Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/genética , Translocación Genética , Anomalías Múltiples/genética , Aborto Habitual/genética , Adulto , Preescolar , Rotura Cromosómica , Trastornos de los Cromosomas/patología , Pintura Cromosómica , Femenino , Enfermedades Fetales/genética , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Discapacidad Intelectual/genética , Masculino , Hibridación de Ácido Nucleico , Oogénesis , Fenotipo , Diagnóstico Prenatal , Espermatogénesis
11.
Sci Rep ; 7(1): 1479, 2017 05 03.
Artículo en Inglés | MEDLINE | ID: mdl-28469135

RESUMEN

Relativistic laser interaction with micro- and nano-scale surface structures enhances energy transfer to solid targets and yields matter in extreme conditions. We report on the comparative study of laser-target interaction mechanisms with wire-structures of different size, revealing a transition from a coherent particle heating to a stochastic plasma heating regime which occurs when migrating from micro-scale to nano-scale wires. Experiments and kinetic simulations show that large gaps between the wires favour the generation of high-energy electrons via laser acceleration into the channels while gaps smaller than the amplitude of electron quivering in the laser field lead to less energetic electrons and multi-keV plasma generation, in agreement with previously published experiments. Plasma filling of nano-sized gaps due to picosecond pedestal typical of ultrashort pulses strongly affects the interaction with this class of targets reducing the laser penetration depth to approximately one hundred nanometers. The two heating regimes appear potentially suitable for laser-driven ion/electron acceleration schemes and warm dense matter investigation respectively.

12.
J Phys Chem B ; 110(10): 4612-20, 2006 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-16526692

RESUMEN

We present an extensive set of measurements of steady shear viscosity (eta degrees(s)), longitudinal elastic modulus (M'), and ultrasonic absorption (alpha) in the one-phase isotropic liquid region of the non-ionic surfactant C12E8 aqueous solutions. Within a given temperature interval, this phase extends along the entire surfactant concentration range that could be fully covered in the experiments. In agreement with previous studies, the overall results support the presence of two separated intervals of concentration corresponding to different structural properties. In the surfactant-rich region the temperature dependence of eta degrees(s) follows an equation characteristic of glass-like systems. The ultrasonic absorption spectra show unambiguous evidence of viscoelastic behavior that can be described by a Cole-Cole relaxation formula. In this region, when both the absorption and the frequency are scaled by the static shear viscosity (eta degrees(s)), the scaled attenuation reduces to a single universal curve for all temperatures and concentrations. In the water-rich region the behavior of eta degrees(s), M', and alpha are more complex and reflect the presence of dispersed aggregates whose size increases with temperature and concentration. At these concentrations the ultrasonic spectra are characterized by a multiple decay rate. The high-frequency tail falls in the same frequency range seen at high surfactant content and exhibits similar behaviors. This contribution is ascribed to the mixture of hydrophilic terminations and water present at the micellar interfaces that resembles the condition of a concentrated polymer solution. An additional low-frequency contribution is also observed, which is ascribed to the exchange of water molecules and/or surfactant monomers between the aggregates and the bulk solvent region.

13.
G Ital Med Lav Ergon ; 28(2): 187-8, 2006.
Artículo en Italiano | MEDLINE | ID: mdl-16805458

RESUMEN

The Check-out assistants represent a working sector at risk of Work Related Musculo Skeletal Disorders (WMSDs). The aim of our study is to evaluate carpal tunnel syndrome's incidence in check out assistants. Our search was carried out on a sample of 695 female check-out assistants,after a specific risk's valutazion witch "chec-list application", during health surveillance. Subjects with an pand's painful symptoms or paraesthesias along territory of median were submitted to tests thath revial compression of median at wrist: Phalen and Tinel tests. Who were positive to painful symptoms or paraesthesias in both tests, were subjected to electromyographia (E.M.G.), gold standard for carpal tunnel Syndrome diagnosis. This sample was compared with a control group no-exposed to specific risk (all teachers) of equal number, age, sex and working age of our sample. Our results point out that: our study sample show more symptoms and carpal tunnel Syndrome than the control group; tere aren't statistically meaningful differences between test's positive subjects amd EMG positive subjects. We demonstrated that a careful anamnesis and objective exam can replace EMG.


Asunto(s)
Síndrome del Túnel Carpiano/epidemiología , Comercio , Enfermedades Profesionales/epidemiología , Femenino , Humanos , Incidencia
14.
Eur J Hum Genet ; 8(1): 63-70, 2000 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10713889

RESUMEN

Paralogous sequences on the same chromosome allow refolding of the chromosome into itself and homologous recombination. Recombinant chromosomes have microscopic or submicroscopic rearrangements according to the distance between repeats. Examples are the submicroscopic inversions of factor VIII, of the IDS gene and of the FLN1/emerin region, all resulting from misalignment of inverted repeats, and double recombination. Most of these inversions are of paternal origin possibly because the X chromosome at male meiosis is free to refold into itself for most of its length. We report on two de novo rearrangements of the X chromosome found in four hypogonadic females. Two of them had an X chromosome deleted for most of Xp and duplicated for a portion of Xq and two had the opposite rearrangement (class I and class II rearrangements, respectively). The breakpoints were defined at the level of contiguous YACs. The same Xp 11.23 breakpoint was found in the four cases. That of the long arm coincided in three cases (Xq21.3) and was more proximal in case 4 (Xq21.1). Thus class I rearrangements (cases 1 and 2) are reciprocal to that of case 3, whilst that of case 4 shares only the Xp breakpoint. The abnormal X was paternal in the three cases investigated. Repeated inverted sequences located at the breakpoints of rearrangements are likely to favour the refolding of the paternal X chromosome and the recombination of the repeats. The repeat at the Xp11 may synapse with either that at Xq21.3 or that at Xq21.1. These rearrangements seem to originate as the Xq28 submicroscopic inversions but they are identifiable at the microscopic level and result from a single recombination event.


Asunto(s)
Aberraciones Cromosómicas Sexuales/genética , Cromosoma X/genética , Adolescente , Adulto , Anciano , Amenorrea/genética , Southern Blotting , Rotura Cromosómica , Deleción Cromosómica , Cromosomas Artificiales de Levadura , Femenino , Duplicación de Gen , Trastornos del Crecimiento/genética , Humanos , Hipogonadismo/genética , Hibridación Fluorescente in Situ , Masculino , Meiosis/genética , Repeticiones de Microsatélite/genética , Linaje , Recombinación Genética/genética , Secuencias Repetitivas de Ácidos Nucleicos
15.
Am J Kidney Dis ; 38(2): 240-8, 2001 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-11479148

RESUMEN

In idiopathic membranous nephropathy (MN), the main predictors for progression to chronic renal failure (CRF) are the amount of proteinuria and extent of tubulointerstitial damage. The aim of this study is to evaluate whether urinary excretion of proteins reflecting the alteration of permselectivity in the glomerular capillary wall, such as immunoglobulin G (IgG), and the reabsorption impairment of low-molecular-weight proteins, such as alpha(1)-microglobulin (alpha(1)m), correlates with the extent of tubulointerstitial damage and have a predictive value for functional outcome and response to therapy better than 24-hour proteinuria. In 78 patients with MN, urinary excretion of albumin, transferrin, IgG, and alpha(1)m was measured by immunonephelometry in second-morning urine samples and expressed in milligrams per gram of urinary creatinine (uCr). In 48 patients with characterization of proteinuria and renal biopsy performed at the same time, excretion of IgG (P = 0.0087) and alpha(1)m (P = 0.0024), but not albumin (P = 0.37), transferrin (P = 0.38), or 24-hour proteinuria (P = 0.32), was associated significantly with the extent of tubulointerstitial damage (score, 0 to 1 versus >/=2). Only alpha(1)m excretion was associated significantly with global glomerular sclerosis (P = 0.0032) and arteriolar hyalinosis (P = 0.0004). Moreover, urinary excretion of alpha(1)m was significantly dependent on IgG excretion (r = 0.67; P = 0.0001), but not on albumin (P = 0.66) or 24-hour proteinuria (P = 0.07). Functional outcome could be evaluated in 38 patients with nephrotic syndrome and baseline normal renal function (serum creatinine, 0.99 +/- 0.20 mg/dL; follow-up, 44 +/- 22 months). Remission was 100% versus 20% in patients with IgG excretion less than 110 mg/g uCr versus 110 mg/g uCr or greater (P = 0.0001) and 77% versus 17% in patients with alpha(1)m excretion less than 33.5 mg/g uCr versus 33.5 mg/g uCr or greater (P = 0.0009), respectively. In patients with IgG and alpha(1)m excretion less than or greater than the cutoff value, progression to CRF was 0% versus 35% (P = 0.0026) and 0% versus 58% (P = 0.0001), respectively. Nineteen patients treated with immunosuppressive therapy were compared with 19 untreated patients. There was no difference in remission or progression between treated and untreated patients when IgG and alpha(1)m excretion were less than the cutoff value. There was a significant difference for progression to CRF between treated and untreated patients when alpha(1)m excretion was greater than the cutoff value (17% versus 100%; P = 0.0076). In conclusion, IgG excretion is associated significantly with the extent of tubulointerstitial damage and alpha(1)m excretion. This observation supports the hypothesis that IgG may be the toxic moiety of proteinuria. Excretion of IgG and alpha(1)m has a significant predictive value for both remission and progression and is useful to identify patients who are at risk for progression and for whom treatment with immunosuppressive therapy is indicated soon after diagnosis.


Asunto(s)
alfa-Globulinas/orina , Glomerulonefritis Membranosa/complicaciones , Glomerulonefritis Membranosa/orina , Inmunoglobulina G/orina , Proteinuria/etiología , Albuminuria/diagnóstico , Albuminuria/etiología , Biopsia , Creatinina/sangre , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Glomerulonefritis Membranosa/patología , Humanos , Terapia de Inmunosupresión , Riñón/patología , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/etiología , Fallo Renal Crónico/prevención & control , Glomérulos Renales/patología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteinuria/diagnóstico , Proteinuria/terapia , Inducción de Remisión , Sensibilidad y Especificidad , Transferrina/orina , Resultado del Tratamiento
16.
Am J Med Genet ; 72(3): 329-34, 1997 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-9332664

RESUMEN

We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic and molecular evidence, the karyotype was 46,X,dirdup(X) (pter-->q24::q21.32-->qter). The duplication of the PLP gene, involved in Pelizaeus-Merzbacher disease, was confirmed by fluorescent in situ hybridization (FISH). Both cytogenetic and molecular studies on the X chromosome inactivation status indicated a random pattern in lymphocytes and fibroblasts. This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. The phenotype of this patient is compared to that of previously reported cases with Xq duplication.


Asunto(s)
Anomalías Múltiples/genética , Albinismo Ocular/genética , Encéfalo/anomalías , Compensación de Dosificación (Genética) , Familia de Multigenes , Vaina de Mielina , Aberraciones Cromosómicas Sexuales/genética , Cromosoma X , Adulto , Mapeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Imagen por Resonancia Magnética , Masculino , Vaina de Mielina/genética
17.
Kidney Int Suppl ; 76: S41-6, 2000 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10936798

RESUMEN

BACKGROUND: The estimation of urea kinetic parameters [urea generation rate (Gu), normalized protein catabolic rate (NPCR), and dialysis dose (Kt/V)] is routinely performed during a single hemodialysis session as a representative sample of a stable series. To ascertain whether the stability assumption is tenable and to estimate the variability of urea kinetic parameters, a number of stable patients on regular dialysis treatment in their usual clinical setting were followed. METHODS: Thirteen stable patients on regular hemodialysis aged 61 +/- 11 were monitored from 5 to 24 weeks (median, 10 weeks) with the urea biosensor system in double-chamber hemodiafiltration. Body weight did not change appreciably. Residual renal function was negligible or absent. Weekly averaged urea concentration (TACw), Gu, NPCR, and Kt/Veq were calculated, and their serial patterns and interrelationships were evaluated through graphical analysis and linear regression. RESULTS: In six patients, the urea pool was substantially unchanged, but variability of Gu and Kt/V was comparable to that of the other groups. In three patients, body urea pool increased. Gu went from 4. 78 +/- 0.44 to 5.40 +/- 0.65 mg/min, and Kt/V went from 1.25 +/- 0. 25 to 1.34 +/- 0.31. In four patients, body urea pool decreased; Gu went from to 6.55 +/- 1.91 to 5.85 +/- 2.26 mg/min, and Kt/V did not change appreciably. Parameters might change in a nearly linear trend or occasionally as abrupt or oscillating phases. Gu was the main factor involved, and the only one affecting four of the seven unstable patients. Kt/V was never solely involved. CONCLUSIONS: Our data indicate that the estimation of urea kinetic parameters is often affected by a non-negligible degree of variability, which can be ascribed to the variability of the dialytic dose delivered and, above all, to the daily changes of diet protein assumption.


Asunto(s)
Nitrógeno de la Urea Sanguínea , Hemodiafiltración/normas , Fallo Renal Crónico/sangre , Fallo Renal Crónico/terapia , Anciano , Biomarcadores , Técnicas Biosensibles , Diagnóstico por Computador , Soluciones para Diálisis/administración & dosificación , Proteínas en la Dieta/metabolismo , Femenino , Homeostasis/fisiología , Humanos , Cinética , Modelos Lineales , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Programas Informáticos
18.
QJM ; 88(11): 805-10, 1995 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-8542265

RESUMEN

We studied 54 patients with essential mixed cryoglobulinaemia (EMC), (23 males, 31 females) mean age 61 years (range 28-77). Forty-one (76%) had type II cryoglobulinaemia and 13 (24%) type III. Antibodies to HCV were detectable by second-generation ELISA in 49 patients (91%) with confirmed or indeterminate RIBA results. HCV RNA was detected by RT PCR using 5' UTR nested primers; HCV genotypes 1a, 1b, 2 and 3a were identified by genotype-specific core-region nested primers. All patients (49) with antibodies to HCV in their serum were HCV-RNA positive; 27 (55.1%) had HCV subtype 1b and 21 (42.8%) type 2. In one patient the HCV genotype could not be determined. The genotype distribution was not different from that found in patients with chronic hepatitis C without cryoglobulinaemia. However, the presence of HCV subtype 1b correlated significantly with signs of chronic hepatitis and presence of peripheral neuropathy. Severity of disease tended to be worse in patients infected with HCV subtype 1b, but this was mainly due to liver disease. HCV genotypes may influence the clinical expression and, in particular, the severity of liver involvement in patients with EMC. Extent and severity of EMC disease in general may also be affected by the different HCV genotypes. These findings may have therapeutical implications, since the different HCV genotypes respond differently to interferon treatment.


Asunto(s)
Crioglobulinemia/virología , Hepacivirus/genética , Anticuerpos contra la Hepatitis C/sangre , Hepatitis C/complicaciones , Adulto , Anciano , Secuencia de Bases , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , ARN Viral/genética , Estudios Retrospectivos , Viremia/virología
19.
J Nephrol ; 14(6): 481-7, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11783604

RESUMEN

BACKGROUND: A urea biosensor, inserted into the ultrafiltrate collection-line of paired filtration dialysis (PFD), not only allows on-line dialysis quantification, but also forecasts final (Cend) and 30 min equilibrated urea concentration (Ceq), the most reliable value for calculating dialysis efficiency. The urea biosensor processes plasma ultrafiltrate continuously, delivering a large amount of data to the computer, which estimates the parameters by a mathematical model, thus predicting the whole urea profile with rebound. METHODS: A multicenter randomized trial on 41 patients was conducted to ascertain the ability of a two-pool variable-volume urea model to forecast Cend and Ceq at 60 and 90 min after the start of dialysis. Two alternative dialytic treatments, A or B, were chosen, the latter being more efficient. Each treatment included six serial PFD. The accuracy of forecasting was evaluated through four indices based on forecast errors, calculated as the difference between observed and forecasted urea values: mean percent error (MPE) (%), mean absolute deviation (MAD) (mg/dl), mean absolute percent error (MAPE) (%) and root mean squared error (RMSE) (mg/dl). RESULTS: Forecasted urea concentrations were lower than those measured by the biosensor. MPE for Cend was negligible in A (+1.2%) and much higher in B (+7.2%); both values improved at 90 min, +1.0% and +5.8%, respectively. MAD for Cend was similar in both treatments and improved slightly at 90 min, ranging from 4.9 to 5.9 mg/dl. MPE for Ceq was +4% in A and and more than doubled in B (+11.5%); both values improved at 90 min, +3.7% and +9.7%, respectively. MAD for Ceq was 7.5 mg/dl in A and 8.5 mg/dl in B; both improved at 90 min, 6.7 and 7.4 m g/dl, respectively. The other indices, MAPE and RMSE, showed similar results. Comparison between the errors of the two treatments with analysis of variance (ANOVA) for repeated measures gave no significant results. CONCLUSIONS: Our model forecasts of urea concentrations were overall lower than the measured ones: the bias was negligible for A-Cend, greater for the A-Ceq and when the more efficient treatment B was used. The 60 min predictions improved at 90 min. The comparison between the prediction errors in the two treatments were not statistically significant. The recirculation measurement would probably reduce the bias if it were properly incorporated into the model.


Asunto(s)
Modelos Biológicos , Monitoreo Fisiológico , Diálisis Renal , Urea/sangre , Filtración/instrumentación , Predicción , Humanos , Concentración Osmolar , Diálisis Renal/instrumentación , Diálisis Renal/métodos , Diálisis Renal/normas , Factores de Tiempo , Resultado del Tratamiento
20.
Clin Nephrol ; 43(2): 96-103, 1995 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-7736685

RESUMEN

Proteinuria was characterized by SDS-PAGE and by immunoblotting with anti-human albumin sera for the detection of urinary polymers of albumin (PA) in 40 patients with biopsy proven lupus glomerulonephritis (LN) (6 pts class III WHO, 24 pts class IV, 10 pts class V) with various clinical presentations (nephrotic syndrome with normal or impaired renal function, 14 pts; urinary abnormalities with normal or impaired renal function, 21 pts; clinical remission, 5 pts); in 25 pts, for whom the characterization of proteinuria and the renal biopsy were performed at the same time, the activity and chronicity index scores were calculated. The mixed SDS-PAGE patterns, characterized by the presence of low molecular weight proteins, were the more frequently found; the mixed patterns were significantly associated with interstitial leukocyte infiltration (p = 0.05) and glomerular sclerosis (p = 0.046) and nonsignificantly associated with higher values of serum creatinine; no SDS-PAGE pattern had predictive value on functional outcome at 36 months. Albumin polymers were present in 67% of pts; in active disease they were present in 33% of class III, in 100% of class IV and in 45% of class V WHO (p = 0.026); PA were not present in 5 pts with clinical remission (4 class IV and 1 class V WHO). The presence of PA was significantly associated with high values (> 10) of activity index (p = 0.009) and with extracapillary proliferation (p = 0.041). Serum creatinine was lower in patients without PA (Scr 1.0 +/- 0.4 mg/dl) than in those with PA (Scr 1.5 +/- 1.0 mg/dl), but the difference was not statistically significant.(ABSTRACT TRUNCATED AT 250 WORDS)


Asunto(s)
Albuminuria/orina , Nefritis Lúpica/orina , Adulto , Albúminas/química , Biopsia , Western Blotting , Electroforesis en Gel de Poliacrilamida , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Glomérulos Renales/patología , Nefritis Lúpica/patología , Masculino , Dodecil Sulfato de Sodio
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