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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
11.
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
12.
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
13.
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
14.
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
15.
J Eur Acad Dermatol Venereol ; 19(5): 573-7, 2005 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16164711

RESUMEN

BACKGROUND: Treatment of nail psoriasis is difficult. Several topical therapies have been employed with poor results because drug penetration is limited in this localization. Recently, a new formulation containing 8% clobetasol-17-propionate in a colourless nail lacquer vehicle has shown good results in the control of nail psoriasis. OBJECTIVE: To determine the efficacy and safety of 8% clobetasol-17-propionate in a lacquer vehicle in nail psoriasis. METHODS: Ten patients with both nail bed and matrix psoriasis were included in the study. They were treated with a colourless nail lacquer containing 8% clobetasol-17-propionate that was applied once daily for 21 days and then twice weekly for 9 months. RESULTS: Within 4 weeks of therapy there was a reduction of all the nail alterations, including nail pain. Therapeutic response was directly related to the length of therapy. The nail parameters that responded best to therapy were onycholysis, pitting and salmon patches. Subungual hyperkeratosis and splinter haemorrhages on the other hand had moderate and poor improvement, respectively. The treatment was well tolerated in all of the patients and there were no local (i.e. atrophy and sobreinfection) or systemic secondary effects. CONCLUSIONS: The formulation containing 8% clobetasol-17-propionate is a safe, effective and cosmetically highly acceptable treatment for nail bed and matrix psoriasis.


Asunto(s)
Clobetasol/análogos & derivados , Uñas/efectos de los fármacos , Psoriasis/tratamiento farmacológico , Administración Tópica , Adulto , Anciano , Anciano de 80 o más Años , Clobetasol/uso terapéutico , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Femenino , Estudios de Seguimiento , Dermatosis de la Mano/diagnóstico , Dermatosis de la Mano/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Psoriasis/diagnóstico , Resultado del Tratamiento
18.
J Infect ; 44(3): 193, 2002 04.
Artículo en Inglés | MEDLINE | ID: mdl-12099749

RESUMEN

We describe the case of a prosthetic valve endocarditis in a 72-year-old woman. Corynebacterium striatum was isolated in the blood samples. This organism has been described in a few cases of native valve endocarditis, but this is the first case reported of prosthetic valve endocarditis.


Asunto(s)
Infecciones por Corynebacterium/diagnóstico , Infecciones por Corynebacterium/microbiología , Corynebacterium/aislamiento & purificación , Endocarditis Bacteriana/microbiología , Prótesis Valvulares Cardíacas/microbiología , Anciano , Válvula Aórtica/cirugía , Corynebacterium/fisiología , Femenino , Humanos
19.
Pediatr Neurol ; 25(3): 250-3, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11587883

RESUMEN

Carotid and vertebral artery dissection is a rarely reported cause of stroke in childhood and adolescence, especially if there is not a direct trauma to the neck. Four patients, under 15 years of age, presented with an internal carotid artery dissection, and one patient presented with a vertebral artery dissection. They were all making a physical effort when the event occurred. The five patients had ischemic symptoms, and in two the events were preceded by transient ischemic attacks. Headache was associated in four patients. The diagnosis was made by magnetic resonance imaging and angiography, which included transfemoral angiography in two patients. All improved before leaving the hospital, and four patients did not suffer recurrent episodes. The diagnostic accuracy of artery dissection has improved because of noninvasive neuroimaging testing, but it should still be suspected in any pediatric ischemic stroke, especially if there is headache or cervical pain associated.


Asunto(s)
Disección de la Arteria Carótida Interna/diagnóstico , Cefalea/etiología , Disección de la Arteria Vertebral/diagnóstico , Adolescente , Isquemia Encefálica/etiología , Disección de la Arteria Carótida Interna/etiología , Angiografía Cerebral , Niño , Diagnóstico Diferencial , Femenino , Humanos , Angiografía por Resonancia Magnética , Masculino , Disección de la Arteria Vertebral/etiología
20.
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
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