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1.
Osteoporos Int ; 25(2): 525-33, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24008400

RESUMEN

UNLABELLED: No differences in either bone mineral density or serum 25OHD levels have been found between 205 women with fibromyalgia (both pre- and postmenopausal) and their controls. However, a lack of the expected 25OHD summer rise was observed in patients. INTRODUCTION: Contradictory data have been published regarding a possible association between fibromyalgia and osteoporosis or hypovitaminosis D. Most studies, however, have been performed in small size samples and have excluded postmenopausal women. We decided to study this association in a larger sample of fibromyalgia patients including both pre- and postmenopausal women. METHODS: Two hundred five patients were recruited from a clinic specializing in fibromyalgia and 205 healthy controls were enrolled from the census of a Primary Care Center. Controls were matched with patients by age and the time of the year they were included in the study. Bone mineral density (BMD) was measured by DXA. Serum 25OHD, iPTH, P1NP, and CTX were also determined. RESULTS: BMD was similar in both groups (lumbar spine, 0.971 ± 0.146 g/cm(2) in patients and 0.970 ± 0.132 g/cm(2) in controls; femoral neck, 0.780 ± 0.122 g/cm(2) and 0.785 ± 0.117 g/cm(2), respectively). 25OHD levels were also similar: 23.0 ± 9.5 ng/ml and 24.1 ± 9.6 ng/ml. However, while controls showed the usual summer rise in 25OHD, fibromyalgia patients did not. PTH did not show seasonal changes, but on average was higher in patients (51 pg/ml vs. 48 pg/ml; p = 0.034). P1NP or CTX were similar in both groups. CONCLUSIONS: No differences in BMD were found between patients and controls. As for 25OHD, a lack of its expected summer rise was observed. It is doubtful whether this has any homeostatic consequence. We consider that the association reported in other studies is merely circumstantial, and not due to the intrinsic characteristics of these disorders.


Asunto(s)
Densidad Ósea/fisiología , Calcifediol/sangre , Fibromialgia/fisiopatología , Adulto , Biomarcadores/sangre , Remodelación Ósea/fisiología , Calcifediol/deficiencia , Estudios de Casos y Controles , Femenino , Cuello Femoral/fisiopatología , Fibromialgia/sangre , Humanos , Vértebras Lumbares/fisiopatología , Persona de Mediana Edad , Osteoporosis/sangre , Osteoporosis/complicaciones , Osteoporosis/fisiopatología , Osteoporosis Posmenopáusica/sangre , Osteoporosis Posmenopáusica/complicaciones , Osteoporosis Posmenopáusica/fisiopatología , Hormona Paratiroidea/sangre , Posmenopausia/sangre , Posmenopausia/fisiología , Factores de Riesgo , Estaciones del Año
2.
Actas Urol Esp (Engl Ed) ; 48(5): 371-376, 2024 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38369292

RESUMEN

INTRODUCTION: Holmium laser enucleation of the prostate has rapidly become the gold standard for the surgical treatment of benign prostate hyperplasia, although thulium fiber laser (TFL) has also been postulated as an effective and safe alternative for prostate enucleation. The aim of this study is to describe our initial experience with the TFL for endoscopic enucleation of the prostate. MATERIAL AND METHODS: All patients proposed to TFL prostate enucleation were included in the analysis, regardless their prostate volume, catheter status and severity of symptoms, in 3 centers. Preoperative characteristics, intraoperative times and functional 3-months follow-up variables were collected, along with complications. RESULTS: Fifty-six patients were available, with a mean age of 68.7 years. Enucleation and morcellation efficiencies were 2.04 and 7.47 g/min, respectively. Median hospital stay was one day. Comparable functional data, pre and 3-month post-surgery was: mean prostate volume 88.9 vs 21.3 g, maximum urinary flow 13.2 vs 27.3 ml/s, post-void residual volume 149 vs 7.8 ml, prostatic specific antigen level 11.2 vs 1 ng/ml, and International Prostate Symptom Score 20.75 vs 3.96. Fourteen out of 56 (25%) patients presented with complications grade ≤2, according to the Clavien-Dindo classification. DISCUSSION: With wider evidence for other urological indications, very recent evidence about the suitability of TFL for prostate enucleation has arisen, since the first case described in 2021. Our results seem to back up these previous successful experiences as long as we obtained good intraoperative and short term follow-up functional results. However, there is still a need of longer follow-up data. CONCLUSIONS: TFL represents a novel technology for prostate enucleation, with a good intraoperative and short follow-up functional results, and a safety profile similar to the observed for those techniques that have been wider used for this indication. Further studies with longer follow-up periods and comparative with these other techniques are necessary.


Asunto(s)
Prostatectomía , Hiperplasia Prostática , Tulio , Humanos , Masculino , Hiperplasia Prostática/cirugía , Anciano , Tulio/uso terapéutico , Estudios Prospectivos , Resultado del Tratamiento , Prostatectomía/métodos , Persona de Mediana Edad , Factores de Tiempo , Terapia por Láser/métodos , Láseres de Estado Sólido/uso terapéutico , Anciano de 80 o más Años
3.
Actas Dermosifiliogr ; 104(9): 738-56, 2013 Nov.
Artículo en Inglés, Español | MEDLINE | ID: mdl-22818830

RESUMEN

Compounding continues to play a key role in the treatment of skin conditions, despite the abundance of products made by the pharmaceutical industry. Right from the earliest days of dermatology, compounding proved very useful in the treatment of diseases for which no specific drugs were available. However, as new products came onto the market, this usefulness was called into question, and doubts over safety, stability, and effectiveness were raised. Today, compounding is regaining the place it once held in routine dermatological practice. We review the advantages and disadvantages of compounding, the most common indications, current legislation in our setting, and the latest developments in active ingredients and vehicles.


Asunto(s)
Composición de Medicamentos , Enfermedades de la Piel/tratamiento farmacológico , Acné Vulgar/tratamiento farmacológico , Humanos , Psoriasis/tratamiento farmacológico , Rosácea/tratamiento farmacológico
4.
Actas Dermosifiliogr (Engl Ed) ; 111(10): 822-828, 2020 Dec.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32910921

RESUMEN

Commercial topical medications for oral conditions are scarce and the vehicles used are not very suitable. Therefore, formulations containing active ingredients in vehicles specially designed for oral application must often be prepared. Drug compounding offers other advantages, including the possibility of combining several active ingredients in a single vehicle and prescribing drugs that are in short supply. In this article, we describe the main pharmaceutical formulations used to treat the most common diseases of the oral mucosa.


Asunto(s)
Excipientes , Mucosa Bucal , Composición de Medicamentos
5.
Rev Esp Quimioter ; 22(2): 93-105, 2009 Jun.
Artículo en Español | MEDLINE | ID: mdl-19544101

RESUMEN

INTRODUCTION: In the 10 last years, the increase of international travels and immigration from low income countries to Spain was related with an increased of prevalence of parasitic diseases. SOURCE: Critical review of the literature. STRUCTURE: Firstly, several general considerations were made on the antiparasitic drugs revised in this paper. Chemical structures and mechanisms of action of the main drugs with antiparasitic effect were considered in the second part of the review. Further, antiparasitic spectrum of selected drugs, main pharmacokinetical characteristics, usual posology, possible side effects and contraindications were detailed. Finally, some practical aspects, such as interactions and the methods for practical obtention of these drugs are indicated. This information is relevant because in Spain many anti-parasitic drugs may be obtained using non conventional methods. CONCLUSION: In Spain, the increase of parasitic diseases necessitates an update on antiparasitics drugs for their treatment.


Asunto(s)
Antiparasitarios/uso terapéutico , Enfermedades Transmisibles Emergentes/tratamiento farmacológico , Enfermedades Parasitarias/tratamiento farmacológico , Animales , Antiparasitarios/efectos adversos , Antiparasitarios/química , Antiparasitarios/clasificación , Antiparasitarios/farmacología , Antiparasitarios/provisión & distribución , Enfermedades Transmisibles Emergentes/epidemiología , Enfermedades Endémicas , Humanos , Estructura Molecular , Enfermedades Parasitarias/epidemiología , España/epidemiología
6.
Rev Esp Enferm Dig ; 101(5): 343-51, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19527080

RESUMEN

Cytokines make up a network of molecules involved in the regulation of immune response and organ functional homeostasis. Cytokines coordinate both physiological and pathological processes occurring in the liver during viral infection, including infection control, inflammation, regeneration, and fibrosis. Hepatitis B and hepatitis C viruses interfere with the complex cytokine network brought about by the immune system and liver cells in order to prevent an effective immune response, capable of viral control. This situation leads to intrahepatic sequestration of nonspecific inflammatory infiltrates that release proinflammatory cytokines, which in turn favor chronic inflammation and fibrosis. The therapeutical administration of cytokines such as interferon alpha may result in viral clearance during persistent infection, and revert this process.


Asunto(s)
Antivirales/uso terapéutico , Citocinas/fisiología , Hepatitis B Crónica/fisiopatología , Hepatitis C Crónica/fisiopatología , Interferón-alfa/uso terapéutico , Antivirales/administración & dosificación , Antivirales/farmacología , Apoptosis/fisiología , Citocinas/metabolismo , Citocinas/farmacología , Quimioterapia Combinada , Hepatitis B Crónica/tratamiento farmacológico , Hepatitis B Crónica/inmunología , Hepatitis C Crónica/tratamiento farmacológico , Hepatitis C Crónica/inmunología , Hepatocitos/patología , Hepatocitos/virología , Humanos , Interferón-alfa/administración & dosificación , Interferón-alfa/fisiología , Hígado/inmunología , Hígado/metabolismo , Hígado/patología , Subgrupos Linfocitarios/inmunología , Modelos Biológicos , Receptores de Citocinas/fisiología , Ribavirina/administración & dosificación , Ribavirina/uso terapéutico , Replicación Viral/efectos de los fármacos
7.
Trop Doct ; 39(2): 101-2, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19299295

RESUMEN

Acalculous cholecystitis has been associated with several infectious agents, but its relation with Plasmodium falciparum infection has not been clearly defined. This is the first case of acalculous cholecystitis produced by Plasmodium falciparum infection that is directly documented and should be included among the differential diagnoses of acalculous cholecystitis.


Asunto(s)
Colecistitis Alitiásica/parasitología , Malaria Falciparum/complicaciones , Plasmodium falciparum/aislamiento & purificación , Colecistitis Alitiásica/complicaciones , Colecistitis Alitiásica/diagnóstico por imagen , Colecistitis Alitiásica/tratamiento farmacológico , Adulto , Animales , Antimaláricos/uso terapéutico , Diagnóstico Diferencial , República Dominicana , Doxiciclina/uso terapéutico , Femenino , Humanos , Malaria Falciparum/tratamiento farmacológico , Malaria Falciparum/parasitología , Quinina/uso terapéutico , Viaje , Ultrasonografía
8.
Actas Urol Esp (Engl Ed) ; 43(6): 331-335, 2019.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30975547

RESUMEN

INTRODUCTION AND OBJECTIVES: Nodal prostate cancer recurrence is a challenging scenario. Current guidelines recommend the use of androgen deprivation therapy, tailored treatment or clinical trials. We studied the impact of Salvage lymph node dissection in selected patients. MATERIAL AND METHODS: We retrospectively reviewed records of 23 consecutive patients with prostate cancer and previous Radical prostatectomy or Radiotherapy who underwent SLND from December 2005 to November 2015. RESULTS: We found that in patients that showed biochemical response the introduction of ADT was delayed 14.9 months compared to patients that did not responded (2.8 months) P=.00026. Furthermore although statistical significance was not reached (P=.072) PSA-DT could be a potential prognostic factor of radiological recurrence since patients with PSA-DT<6 months developed radiological recurrence 7.6 months earlier compared to their counterparts. CONCLUSIONS: Salvage lymph node dissection is a potential treatment that could delay ADT in selected patients.


Asunto(s)
Escisión del Ganglio Linfático/métodos , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Prostatectomía/métodos , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/cirugía , Terapia Recuperativa/métodos , Anciano , Análisis de Varianza , Antagonistas de Andrógenos/uso terapéutico , Antineoplásicos Hormonales/uso terapéutico , Colina , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/sangre , Recurrencia Local de Neoplasia/diagnóstico por imagen , Supervivencia sin Progresión , Antígeno Prostático Específico/sangre , Neoplasias de la Próstata/sangre , Neoplasias de la Próstata/terapia , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
9.
Actas Urol Esp (Engl Ed) ; 42(4): 218-226, 2018 May.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28803679

RESUMEN

CONTEXT: Kidney transplantation from donors with expanded criteria has increased the pool of kidneys at the cost of a higher risk of short and long-term graft dysfunction. The main issue lies in determining which kidneys will offer acceptable function and survival compared with the risk represented by surgery and subsequent immunosuppression. OBJECTIVE: The objective of our article is to review the current evidence on the tools for predicting the functionality of kidney transplantation from cadaveric donors with expanded criteria and determining the validity for their use in standard practice. ACQUISITION OF EVIDENCE: We conducted a systematic literature review according to the PRISM criteria, through Medline (http://www.ncbi.nlm.nih.gov) and using the keywords (in isolation or in conjunction) "cadaveric renal transplantation; kidney graft function appraisal, graft function predictors". We selected prospective and retrospective series and review articles. A total of 375 articles were analysed, 39 of which were ultimately selected for review. SUMMARY OF THE EVIDENCE: The predictors of functionality include the following: The donor risk indices; the calculation of the renal functional weight or the assessment of the nephronic mass; the measurement of vascular resistances during perfusion in hypothermia; the measurement of the donor's biomarkers in urine and in the perfusion liquid; the measurement of functional and reperfusion parameters in normothermia; and the measurement of morphological parameters (microscopic and macroscopic) of the target organ. In this article, we present an explanatory summary of each of these parameters, as well as their most recent evidence on this issue. DISCUSSION: None of the reviewed parameters in isolation could reliably predict renal function and graft survival. There is a significant void in terms of the macroscopic assessment of kidney transplantation. CONCLUSIONS: We need to continue developing predictors of renal functionality to accurately define the distribution of each currently available donor kidney.


Asunto(s)
Trasplante de Riñón , Riñón/fisiología , Predicción , Humanos , Resultado del Tratamiento
10.
J Clin Invest ; 79(3): 847-52, 1987 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-3818951

RESUMEN

We tested the hypothesis that there is an enhanced rate of hypoxanthine salvage in two siblings with hereditary xanthinuria. We radiolabeled the adenine nucleotide pool with [8-14C]adenine and examined purine nucleotide degradation after intravenous fructose. The cumulative excretion of radioactivity during a 5-d period was 9.7% and 9.1% of infused radioactivity in the enzyme-deficient patients and 6.0 +/- 0.7% (mean +/- SE) in four normal subjects. Fructose infusion increased urinary radioactivity to 7.96 and 9.16 X 10(6) cpm/g creatinine in both patients and to 4.73 +/- 0.69 X 10(6) cpm/g creatinine in controls. The infusion of fructose increased total urinary purine excretion to a mean of 487% from low-normal baseline values in the patients and to 398 +/- 86% in control subjects. In the enzyme-deficient patients, the infusion of fructose elicited an increase of plasma guanosine from undetectable values to 0.7 and 0.9 microM. With adjustments made for intestinal purine loss, these data support the hypothesis that there is enhanced hypoxanthine salvage in hereditary xanthinuria. Degradation of guanine nucleotides to xanthine bypasses the hypoxanthine salvage pathway and may explain the predominance of this urinary purine compound in xanthinuria.


Asunto(s)
Hipoxantinas/metabolismo , Errores Innatos del Metabolismo de la Purina-Pirimidina/metabolismo , Xantinas/orina , Adenina/metabolismo , Nucleótidos de Adenina/metabolismo , Adolescente , Adulto , Femenino , Fructosa , Guanosina/sangre , Humanos , Hipoxantina , Masculino , Purinas/sangre , Purinas/orina , Ácido Úrico/sangre , Ácido Úrico/orina , Xantina , Xantina Oxidasa/deficiencia
11.
Clin Microbiol Infect ; 13(11): 1077-82, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17727685

RESUMEN

The time from the start of incubation to a positive reading of blood cultures (time-to-positivity; TTP) is related to the concentration of bacteria in blood. Information concerning the correlation of TTP with clinical parameters, and its usefulness as a prognostic factor in patients with Escherichia coli bacteraemia, is limited. To investigate the relationship of TTP to clinical parameters, 459 cases of monomicrobial E. coli bloodstream infections from a single institution between 1997 and 2005 were reviewed. All cases involved patients who were not undergoing antibiotic treatment at the time of blood sampling. The in-hospital mortality rate was 6.3%. Median TTP was significantly shorter for patients who died than for those who survived (9.7 h, inter-quartile range 7.85-11.05 h vs. 11.2 h, inter-quartile range 10.1-11.4 h; p <0.001). Patients with TTP in the lowest quartile were more likely to be female, to have a non-urinary tract or an unknown origin of bacteraemia, to have severe sepsis or shock, and to subsequently die. In a multivariable Cox regression model, the hazard ratio for death from any cause for patients with a short TTP was 3.13 (95% CI 1.28-7.64; p 0.01). TTP in patients with E. coli bacteraemia provides prognostic information beyond that provided by the presence of haematological illness, a Charlson score > or =3, a non-urinary tract origin of bacteraemia, and the presence of severe sepsis or shock.


Asunto(s)
Bacteriemia/microbiología , Infecciones por Escherichia coli/microbiología , Escherichia coli/crecimiento & desarrollo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Bacteriemia/sangre , Escherichia coli/aislamiento & purificación , Infecciones por Escherichia coli/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia
12.
Arch Esp Urol ; 69(6): 291-301, 2016 Jul.
Artículo en Español | MEDLINE | ID: mdl-27416632

RESUMEN

The use of prostatic multiparametric MRI (mpMRI) has increased significantly over the last years, and has emerged as a crucial test for diagnosis, staging and treatment of prostate cancer (PCa). The use of the various available sequences (T2W, T1W, diffusion, perfusion and spectroscopy), as well as the different parameters they associate, not only enables to determine the group of patients subsidiary of focal ablative therapy, but also to perform a proper determination of the áreas to treat, as well as to monitor the development of therapy and to evaluate both oncological results and possible therapeutic failures. Despite the excellent results showed in the different studies, it is necessary to reach a consensus about its use on the different features associated with focal therapy, since it is a technique that requires not only large experience in its operation but also standardization. All this make it a complex technique and not free of difficulties in its interpretation.


Asunto(s)
Imagen por Resonancia Magnética , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/terapia , Humanos , Biopsia Guiada por Imagen , Imagen por Resonancia Magnética/métodos , Masculino , Tratamientos Conservadores del Órgano , Neoplasias de la Próstata/patología
13.
Orthop Traumatol Surg Res ; 102(8S): S295-S299, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27687065

RESUMEN

INTRODUCTION: Many clinical anatomy studies have looked into how variations in the acromion, coracoacromial ligament (CAL) and subacromial space are associated with rotator cuff injuries. However, no study up to now had defined anatomically the fibro-osseous canal that confines the supraspinatus muscle in the subcoracoacromial space. Through an anatomical study of the scapula, we defined the bone-related parameters of this canal and its anatomical variations. MATERIALS AND METHODS: This study on dry bones involved 71 scapulas. With standardised photographs in two orthogonal views (superior and lateral), the surface area of the subcoracoacromial canal and the anatomical parameters making up this canal were defined and measured using image analysis software. The primary analysis evaluated the anatomical parameters of the canal as a function of three canal surface area groups; the secondary analysis looked into how variations in the canal surface area were related to the type of acromion according to the Bigliani classification. RESULTS: Relative to glenoid width, the group with a large canal surface area (L) had significantly less lateral overhang of the acromion than the group with a small canal surface area (S), with ratios of 0.41±0.23 and 0.58±0.3, respectively (P=0.04). The mean length of the CAL was 46±8mm in the L group and 39±9mm in the S group (P=0.003). The coracoacromial arch angle was 38°±11° in the L group and 34°±9° in the S group; the canal surface area was smaller in specimens with a smaller coracoacromial arch angle (P=0.20). CONCLUSION: Apart from acromial morphology, there could be innate anatomical features of the scapula that predispose people to extrinsic lesions to the supraspinatus tendon (lateral overhang, coracoacromial arch angle) by reducing the subcoracoacromial canal's surface area. LEVEL OF EVIDENCE: Anatomical descriptive study.


Asunto(s)
Acromion/anatomía & histología , Apófisis Coracoides/anatomía & histología , Humanos , Procesamiento de Imagen Asistido por Computador , Ligamentos Articulares/anatomía & histología
14.
Arch Intern Med ; 153(3): 357-65, 1993 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-8427538

RESUMEN

BACKGROUND: The clinical characteristics of hereditary nephropathy associated with hyperuricemia or gout have not been fully described, and the pathogenetic role of increased serum urate concentration is controversial. METHODS: We examined the clinical characteristics of 14 patients and purine metabolism of seven patients, while they were on a purine-restricted diet, in two families with hereditary nephropathy associated with asymptomatic hyperuricemia or gout. Results of plasma and urinary purine measurements were compared with those obtained in 25 patients with gout and renal insufficiency and in 25 normal subjects. Eight subjects in both families were followed up for a mean of 44 months. Allopurinol was given to all patients and enalapril maleate to hypertensive subjects. RESULTS: All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. Decreased glomerular filtration rate was proportional to the decreased renal plasma flow. Renal vascular resistance was markedly increased in the patients with diminished renal plasma flow. All patients with familial nephropathy showed diminished urinary uric acid, hypoxanthine, and xanthine excretion rates. Purine under-excretion was more severe in affected patients with familial nephropathy than in patients with gout and renal insufficiency. Kidney biopsy specimens from three patients with familial nephropathy showed tubulointerstitial lesions and ischemic changes in glomeruli but no uric acid crystals. The kidney uric acid content was normal. Allopurinol treatment normalized serum urate levels, but serum creatinine concentrations increased and creatinine clearance decreased in all patients with familial nephropathy. One patient with gout only at initial evaluation developed renal failure during the follow-up period. CONCLUSIONS: Increased serum urate concentrations in hereditary nephropathy associated with hyperuricemia and gout are due to severe impairment of uric acid excretion. Hyperuricemia does not appear, however, to be of pathogenetic relevance and may be a consequence of a primary disruption of renal hemodynamics.


Asunto(s)
Gota/complicaciones , Fallo Renal Crónico/etiología , Ácido Úrico/sangre , Adolescente , Adulto , Niño , Femenino , Estudios de Seguimiento , Gota/genética , Gota/metabolismo , Humanos , Riñón/patología , Fallo Renal Crónico/genética , Fallo Renal Crónico/metabolismo , Fallo Renal Crónico/patología , Masculino , Persona de Mediana Edad , Linaje , Purinas/metabolismo , Ácido Úrico/orina
15.
Arch Intern Med ; 151(4): 726-32, 1991 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-2012455

RESUMEN

We reviewed the clinical features and uric acid metabolism in 37 female patients with gout. In 32 female patients (86%), gout was diagnosed after menopause. Among the five premenopausal patients, four had renal insufficiency and one had superactivity of phosphoribosylpyrophosphate synthetase. More than 50% of the female patients had osteoarthritis, hypertension, or renal insufficiency or were treated with diuretics. Comparison with 220 male patients with gout showed that female patients developed gout significantly later, more frequently had associated diseases, and more often were receiving diuretics, whereas significantly more male than female patients had alcoholism. The articular features of gout were similar in both groups. However, the prevalence of tophi was higher and its localization different in female than in male patients. Female patients with gout had a higher mean serum urate concentration and a lower mean urinary uric acid excretion than did male patients with gout. These differences were significant and independent of the effects of age, renal insufficiency, alcoholism, or previous diuretic intake. Renal underexcretion of uric acid appears to be more severe in female than in male patients with gout.


Asunto(s)
Gota , Ácido Úrico/metabolismo , Adulto , Factores de Edad , Diuréticos/uso terapéutico , Femenino , Gota/diagnóstico , Gota/epidemiología , Gota/metabolismo , Humanos , Hipertensión/epidemiología , Fallo Renal Crónico/epidemiología , Masculino , Menopausia , Menstruación , Persona de Mediana Edad , Prevalencia
16.
Hum Mutat ; 15(4): 383, 2000 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-10737990

RESUMEN

We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described. HPRT Zaragoza II (a GG insertion in exon 2), HPRT Murcia (an AG deletion in exon 4), HPRT Asturias (a A deletion in exon 4) and HPRT Cartagena (a A insertion in exon 6) cause a frame-shift resulting in a premature stop codon. HPRT Sevilla is a splice-site mutation resulting in exon 8 skipping in the HPRT mRNA. HPRT Huelva, Madrid II and Zaragoza I are point mutations that result in single amino-acid changes in the mutated HPRT protein (118G-->A, G40R; 143G-->A, R 48 H; 397G-->A, V133 M, respectively). Three mutations have been previously described in unrelated families, and two mutations have been already published. All mutations that resulted in truncated proteins corresponded to patients with the Lesch-Nyhan phenotype. Characterization of the HPRT mutation allowed us to make carrier detection in 33 women and prenatal diagnosis in two fetuses. Hum Mutat 15:383, 2000.


Asunto(s)
Hipoxantina Fosforribosiltransferasa/deficiencia , Hipoxantina Fosforribosiltransferasa/genética , Empalme Alternativo/genética , Exones/genética , Femenino , Mutación del Sistema de Lectura/genética , Tamización de Portadores Genéticos , Humanos , Síndrome de Lesch-Nyhan/enzimología , Síndrome de Lesch-Nyhan/genética , Mutagénesis Insercional/genética , Mutación Puntual/genética , Embarazo , Diagnóstico Prenatal , Eliminación de Secuencia/genética , España
17.
Mol Plant Microbe Interact ; 10(9): 1045-53, 1997 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-9390419

RESUMEN

Phytophthora parasitica var. nicotianae produces a 34-kDa glycoprotein elicitor (CBEL) that is localized in the cell wall. A cDNA encoding the protein moiety of this elicitor was cloned and characterized. The deduced amino acid sequence consisted of two direct repeats of a cysteine-rich domain, joined by a Thr/Pro-rich region. Although having no general homology with published sequences, the positions of the cysteine residues in the two repeats show a conserved pattern, similar to that of the cellulose-binding domain of fungal glycanases. CBEL did not possess hydrolytic activity on a variety of glycans, but bound to fibrous cellulose and plant cell walls. In addition, it exerted a lectin-like hemagglutinating activity. Infiltration of tobacco leaves (cultivar 46-8) with this molecule elicited necrosis and defense gene expression at 150 nM. Elicitor pretreatment of this tobacco cultivar resulted in protection against subsequent inoculation with an otherwise virulent race of P. parasitica var. nicotianae. All these biological activities were exerted within a low concentration range. This is the first report that a fungal elicitor exhibits cellulose-binding and lectin-like activities. The possible implications of such a multifunctional elicitor in plant-microbe interactions are discussed.


Asunto(s)
Celulosa/metabolismo , Proteínas Fúngicas/genética , Lectinas/metabolismo , Glicoproteínas de Membrana/genética , Phytophthora/genética , Secuencia de Aminoácidos , Secuencia de Bases , Clonación Molecular , ADN Complementario , Proteínas Fúngicas/metabolismo , Pruebas de Hemaglutinación , Glicoproteínas de Membrana/metabolismo , Datos de Secuencia Molecular , Phytophthora/metabolismo , Polisacáridos/metabolismo , Unión Proteica , Homología de Secuencia de Aminoácido
18.
Medicine (Baltimore) ; 80(2): 102-12, 2001 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11307586

RESUMEN

The enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyzes the reutilization of hypoxanthine and guanine to the purine nucleotides IMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid overproduction and variable neurologic impairment. The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, spasticity, mental retardation, and self-injurious behavior. In some HPRT-deficient patients the enzyme defect appeared to be "partial" and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome). This has prompted the classification of HPRT deficiency in 2 distinct groups: Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome, which has created much confusion. A spectrum of clinical consequences of HPRT deficiency has been recognized in small series of patients, but the complete spectrum of the neurologic disorder has not been described in a single series of patients examined by the same observers. We analyzed our experience with 22 patients belonging to 18 different families with HPRT deficiency diagnosed at "La Paz" University Hospital in Madrid over the past 16 years. The clinical spectrum of these HPRT-deficient Spanish patients was similar to the different phenotypes occasionally reported in the literature, in some cases diagnosed as Lesch-Nyhan "variants." The clinical, biochemical, enzymatic, and molecular genetic studies on these 22 patients allowed us to delineate a new classification of HPRT deficiency. Based on the neurologic symptoms, dependency for personal care, HPRT activity in hemolysate and in intact erythrocytes, and predicted protein size, patients were classified into 4 groups: Group 1 (2 patients), normal development with no neurologic symptoms, HPRT activity was detectable in hemolysates and in intact erythrocytes, and the mutation did not affect the predicted protein size. Group 2 (3 patients) mild neurologic symptoms that did not prevent independent lives, HPRT activity was detectable in intact erythrocytes, and the protein size was normal. Group 3 (2 patients), severe neurologic impairment that precluded an independent life, no residual HPRT activity, and normal protein size. Group 4 (15 patients), clinical characteristics of Lesch-Nyhan syndrome (some may not show self-injurious behavior), no residual HPRT activity, and in most (7 of 8 patients in whom the mutation could be detected) the mutation affected the predicted protein size. This classification of HPRT deficiency into 4 groups may be more useful in terms of accuracy, reproducibility, assessment for treatment trials and prognosis. The study of this Spanish series allows us to conclude that HPRT deficiency may be manifested by a wide spectrum of neurologic symptoms; the overall severity of the disease is associated with mutations permitting some degree of residual enzyme activity; and mutation analysis provides a valuable tool for prognosis, carrier identification, and prenatal diagnosis.


Asunto(s)
Hipoxantina Fosforribosiltransferasa/deficiencia , Adolescente , Adulto , Niño , Preescolar , Femenino , Tamización de Portadores Genéticos , Humanos , Lactante , Síndrome de Lesch-Nyhan/sangre , Síndrome de Lesch-Nyhan/genética , Síndrome de Lesch-Nyhan/fisiopatología , Masculino , Errores Innatos del Metabolismo/sangre , Errores Innatos del Metabolismo/clasificación , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/fisiopatología , Mutación/genética , Linaje , Fenotipo , Purinas/sangre , España/epidemiología
19.
Am J Med ; 85(4): 533-7, 1988 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-3177401

RESUMEN

PURPOSE: The renal excretion of uric acid is usually diminished in primary gout with respect to increased serum urate levels. To determine whether the renal excretion of uric acid precursors, hypoxanthine and xanthine, is also abnormal in primary gout, the concentrations of these purines were measured in plasma and 24-hour urine samples in normal subjects, in patients with primary gout and uric acid underexcretion, and in patients with enzyme deficiencies that are known to result in over-production of uric acid. SUBJECTS AND METHODS: Three groups of subjects were studied: Group I consisted of 10 ambulatory healthy normal men; Group II consisted of 15 patients in whom primary gout was diagnosed; and Group III consisted of 10 patients with various enzyme defects known to produce an excessive synthesis of uric acid. In each subject, plasma and 24-hour urinary uric acid, hypoxanthine, xanthine, and creatinine concentrations were measured and the mean of three consecutive determinations was used. The fractional excretion of purine compounds was calculated from a formula. Hypoxanthine phosphoribosyltransferase, adenine phosphoribosyltransferase, and hemoglobin were also measured in each subject. RESULTS: Plasma hypoxanthine and xanthine were increased in the two groups of patients compared with the control subjects. Urinary hypoxanthine and xanthine levels were reduced in gouty patients compared with control subjects, whereas levels were increased in patients with uric acid overproduction. A positive correlation was found between the renal clearances of uric acid, hypoxanthine, and xanthine. CONCLUSION: The results indicate that the renal excretion of hypoxanthine and xanthine is severely impaired in most patients with primary gout.


Asunto(s)
Gota/orina , Hipoxantinas/orina , Riñón/fisiopatología , Xantinas/orina , Adulto , Anciano , Femenino , Gota/sangre , Gota/fisiopatología , Humanos , Hipoxantina , Hipoxantinas/sangre , Masculino , Persona de Mediana Edad , Ácido Úrico/sangre , Ácido Úrico/orina , Xantina , Xantinas/sangre
20.
Am J Med ; 97(4): 332-8, 1994 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-7942934

RESUMEN

PURPOSE: Uncontrolled studies have shown that women with gout have higher serum urate concentrations and similar or lower urinary uric acid excretion rates than do men with gout. These observations suggest a more defective tubular transport of uric acid in women than in men with gout. In this prospective study we assessed purine metabolism in women with primary gout under controlled conditions. We also examined whether there are sex-related differences in plasma and urinary purine concentrations among patients with primary gout. SUBJECTS AND METHODS: Ten women with crystal-proved primary gout and normal serum creatinine levels (below 116 mmol/L) were studied while they were on a purine-restricted diet and taking no medications known to influence uric acid metabolism. For comparison, 20 men with primary gout and 10 women without gout, matched for age, race, and body mass index, were studied under the same conditions. In each subject, plasma and 24-hour urinary uric acid, hypoxanthine, and xanthine concentrations were measured. The mean of three consecutive determinations for plasma purines and five for urinary purines was used. Standard formulas were used to calculate the renal clearances and the fractional excretion of purines. RESULTS: Mean plasma urate, hypoxanthine, and xanthine levels were significantly higher in women patients with primary gout compared with normal women (P < 0.05). Mean 24-hour urinary uric acid excretion was similar in both groups. Daily urinary hypoxanthine and xanthine excretion rates were significantly lower in gouty women patients than in control women (P < 0.05). The renal clearances and the fractional excretion of uric acid, hypoxanthine, and xanthine were markedly lower in women with primary gout than in control women (P < 0.05). Plasma and urinary purine concentrations were similarly increased and diminished, respectively, in women and men patients with primary gout. Plasma urate, hypoxanthine, and xanthine levels were inversely and significantly associated with the fractional excretion of uric acid (r = -0.520; P = 0.003), hypoxanthine (r = -0.555; P = 0.002), and xanthine (r = -0.384; P = 0.040), respectively. CONCLUSION: Women with primary gout have markedly diminished uric acid, hypoxanthine, and xanthine excretion rates. The disturbance of purine metabolism appears to be of a similar magnitude to that observed in gouty men. The absence of significant sex-related differences in plasma and urinary purine concentrations suggests a similar tubular dysfunction for purine excretion in women and men with primary gout.


Asunto(s)
Gota/metabolismo , Purinas/metabolismo , Anciano , Creatinina/metabolismo , Femenino , Gota/sangre , Gota/orina , Humanos , Hipoxantina , Hipoxantinas/metabolismo , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Purinas/sangre , Purinas/orina , Factores Sexuales , Ácido Úrico/metabolismo , Xantina , Xantinas/metabolismo
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