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1.
Urology ; 120: 9-22, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30403609

RESUMEN

We systematically assessed the learning curve of Holmium laser enucleation of the prostate using the available literature to identify, as our primary outcome, the average number of cases required to reach competency. A computerized search of PubMed and Scopus for articles published from inception through to January 2018 was performed including 24 studies with a total of 5173 patients. Even though different outcome measures require varying case-loads to reach a plateau, Holmium laser enucleation of prostate has an acceptable learning curve with a proposed figure approximating 25-50 cases, with a structured mentorship programme aiding for faster progress.


Asunto(s)
Holmio/uso terapéutico , Terapia por Láser/métodos , Láseres de Estado Sólido/uso terapéutico , Curva de Aprendizaje , Prostatectomía/métodos , Holmio/efectos adversos , Humanos , Terapia por Láser/efectos adversos , Láseres de Estado Sólido/efectos adversos , Masculino , Próstata/cirugía , Prostatectomía/efectos adversos , Resultado del Tratamiento
2.
Urology ; 111: e3-e4, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29024737

RESUMEN

Pseudomyxoma peritonei is a rare clinical condition that can arise from various primary tumors with different biological behaviors. An intraperitoneal spread of mucus is the characteristic of the disease. Here, we provide images from a rare entity, a pseudomyxoma peritonei arising from urachal mucinous adenocarcinoma. If clinical suspicion is high, the preoperative imaging could be almost pathognomonic of the disease.


Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Peritoneales/diagnóstico , Seudomixoma Peritoneal/diagnóstico , Neoplasias de la Vejiga Urinaria/diagnóstico , Adenocarcinoma/cirugía , Adenocarcinoma Mucinoso/cirugía , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/cirugía , Neoplasias Peritoneales/cirugía , Seudomixoma Peritoneal/cirugía , Neoplasias de la Vejiga Urinaria/cirugía
3.
J Endourol ; 32(2): 79-83, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29161905

RESUMEN

INTRODUCTION: The effects of medical therapy with finasteride or dutasteride during transurethral enucleation of prostate and tissue morcellation are not well defined. In theory, the risk of prostatic fibrosis versus the potential benefit of reduced intraoperative bleeding has been addressed as potential competing factors. The aim of this review was to provide evidence whether 5α-reductase inhibitors (5-ARIs) put the surgeon at a disadvantage or impact on patient outcomes. MATERIALS AND METHODS: We performed a literature search of PubMed, Scopus, and Web of Science databases. All articles in English language related to the topic were reviewed to provide data on the influence of preoperative 5-ARIs in holmium laser enucleation of prostate (HoLEP). RESULTS: Parameters of surgical efficiency such as enucleation time and efficiency, morcellation time, operating time, prostate tissue volume resected, energy, and saline usage were evaluated in the included studies. The review failed to show any definite impact of preoperative 5-ARI use on the mentioned parameters. One study, assessing the surgical difficulty using retrospective video recording analysis, showed that use of dutasteride increases the difficulty of enucleation step, which did not translate in statistical difference of surgical efficiency in an experienced level of surgeons. CONCLUSIONS: Overall, 5-ARIs do not seem to affect HoLEP. However, the quality of evidence is still quite poor in comparison with other surgical techniques. Further well-designed studies are required before making any definite recommendations on the use of 5-ARIs in patients undergoing HoLEP.


Asunto(s)
Inhibidores de 5-alfa-Reductasa/efectos adversos , Dutasterida/efectos adversos , Finasterida/efectos adversos , Prostatectomía/métodos , Hiperplasia Prostática/cirugía , Humanos , Terapia por Láser/métodos , Láseres de Estado Sólido/uso terapéutico , Masculino , Morcelación/métodos , Tempo Operativo , Cuidados Preoperatorios/métodos , Estudios Retrospectivos
4.
BJU Int ; 117(6): 890-6, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26644044

RESUMEN

OBJECTIVE: To determine the outcome of clinically negative node (cN0) patients with penile cancer undergoing dynamic sentinel node biopsy (DSNB), comparing the results of a 1- and 2-day protocol that can be used as a minimal invasive procedure for staging of penile cancer. PATIENTS AND METHODS: This is a retrospective analysis of 151 cN0 patients who underwent DSNB from 2008 to 2013 for newly diagnosed penile cancer. Data were analysed per groin and separated into groups according to the protocol followed. The comparison of the two protocols involved the number of nodes excised, γ-counts, false-negative rates (FNR), and complication rates (Clavien-Dindo grading system). RESULTS: In all, 280 groins from 151 patients underwent DSNB after a negative ultrasound ± fine-needle aspiration cytology. The 1-day protocol was performed in 65 groins and the 2-day protocol in 215. Statistically significantly more nodes were harvested with the 1-day protocol (1.92/groin) compared with the 2-day protocol (1.60/groin). The FNRs were 0%, 6.8% and 5.1%, for the 1-day protocol, 2-day protocol, and overall, respectively. Morbidity of the DSNB was 21.4% for all groins, and 26.2% and 20.1% for the 1-day and 2-day protocols, respectively. Most of the complications were of Clavien-Dindo Grade 1-2. CONCLUSIONS: DSNB is safe for staging patients with penile cancer. There is a trend towards a 1-day protocol having a lower FNR than a 2-day protocol, albeit at the expense of a slightly higher complication rate.


Asunto(s)
Carcinoma de Células Escamosas/patología , Ingle/patología , Metástasis Linfática/patología , Neoplasias del Pene/patología , Biopsia del Ganglio Linfático Centinela/métodos , Ganglio Linfático Centinela/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/cirugía , Protocolos Clínicos , Ingle/cirugía , Humanos , Metástasis Linfática/diagnóstico , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Estadificación de Neoplasias , Neoplasias del Pene/cirugía , Estudios Retrospectivos , Reino Unido/epidemiología
5.
Anticancer Res ; 34(12): 7415-24, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25503182

RESUMEN

AIM: The aim of this study was to develop multiplex-PCR assays for the detection of circulating tumor cells in peripheral blood and urine samples of patients with bladder cancer. MATERIALS AND METHODS: Peripheral blood and urine samples were collected from 208 patients (169 patients and 39 healthy volunteers). After RNA extraction and cDNA synthesis, the samples were analyzed for the expression of cytokeratin 19 (CK19), CK20 and epidermal growth factor receptor (EGFR) mRNA in blood and for SURVIVIN, human telomerase reverse transcriptase (hTERT), cytokeratin 20 (CK20) mRNA in urine, using multiplex-PCR assays. RESULTS: EGFR and CK20 alone or in combination as well as all urine markers correlated well with histological grade. hTERT correlated well with primary tumor size T≥3. Patients with positive urine markers had significantly worse progression-free survival. CONCLUSION: Multiplex-PCR assays can be a useful tool for staging and monitoring purposes in patients with bladder cancer.


Asunto(s)
Reacción en Cadena de la Polimerasa Multiplex/métodos , Células Neoplásicas Circulantes/patología , Neoplasias de la Vejiga Urinaria/patología , Anciano , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/orina , Supervivencia sin Enfermedad , Receptores ErbB/sangre , Femenino , Humanos , Proteínas Inhibidoras de la Apoptosis/genética , Proteínas Inhibidoras de la Apoptosis/orina , Queratina-19/sangre , Queratina-20/sangre , Queratina-20/genética , Queratina-20/orina , Masculino , Clasificación del Tumor , Estadificación de Neoplasias/métodos , ARN Mensajero/orina , Survivin , Telomerasa/genética , Telomerasa/orina , Neoplasias de la Vejiga Urinaria/sangre , Neoplasias de la Vejiga Urinaria/orina
6.
Urolithiasis ; 42(6): 527-32, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25074713

RESUMEN

The aim of the study is to determine whether dermal scarification is equally effective for treating acute renal colic compared to diclofenac sodium intramuscular therapy. A prospective, randomized controlled study was conducted with methodologic rigor based on CONSORT criteria. A total of 291 patients, aged ≥ 18 years, suffering from acute renal colic were included in this trial and randomly assigned in two groups. Patients in the first group (A) received endodermal injection (dermal scarification) of 1 ml normal saline at the area of intensity of pain. The second group (B) received 75 mg diclofenac sodium by intramuscular injection. The success of each method defined the primary end point. Pain intensity before and after treatment was assessed using a visual analog scale. The time onset and the duration of analgesia were also recorded. There was no significant difference between the two groups regarding hematuria (p = 0.158), stone identification at KUB (p = 0.751) and mean pain intensity (p = 0.609) before treatment initiation. The method was successful in 75.5 % of patients in group A and 74.3 % of patients in group B (p = 0.812). Mean pain reduction was comparable, 5.65 ± 3.05 in group A and 5.34 ± 2.99 in group B (p = 0.379), with dermal scarification eliciting its effect considerably faster, whereas the duration of analgesia was longer in the diclofenac group (p < 0.05). In conclusion, dermal scarification could constitute an alternative method for treating renal colic as it is equally effective compared to the standard treatment of diclofenac sodium.


Asunto(s)
Diclofenaco/administración & dosificación , Diclofenaco/uso terapéutico , Inyecciones Intradérmicas , Cólico Renal/tratamiento farmacológico , Cloruro de Sodio/administración & dosificación , Cloruro de Sodio/uso terapéutico , Adulto , Antiinflamatorios no Esteroideos/administración & dosificación , Antiinflamatorios no Esteroideos/uso terapéutico , Terapias Complementarias , Femenino , Humanos , Inyecciones Intramusculares , Masculino , Persona de Mediana Edad , Dolor/tratamiento farmacológico , Dimensión del Dolor , Estudios Prospectivos , Resultado del Tratamiento
7.
J Sex Med ; 10(11): 2774-81, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24034543

RESUMEN

INTRODUCTION: Patient and female partner satisfaction after implantation of an inflatable penile prosthesis (IPP) assessed by objective means, and the correlation between the partners, is important for determining postoperative sexual life. AIM: The primary goal was to evaluate patients' erectile function and patients' and their partners' satisfaction after IPP implantation. A secondary aim was to investigate potential determinative factors of satisfaction according to device characteristics, demographics, and cause of erectile dysfunction (ED). METHODS: Ninety patients, who underwent IPP implantation as an alternative to refractory or undesirable medical treatment for ED, were evaluated. Patients who could not or refused to participate, or were out of a relationship, were excluded. The 69 remaining patients were evaluated for their pre- and postoperative erectile function and posttreatment satisfaction for themselves and their partners. MAIN OUTCOME MEASURES: Preoperative and postoperative scores on the International Index of Erectile Function Questionnaire-five items (IIEF-5) were compared. The Erectile Dysfunction Inventory of Treatment Satisfaction (EDITS) was given to males and their female partners. Patient demographics, etiology of ED, and implant characteristics were correlated also with patients' EDITS scores. RESULTS: Mean IIEF-5 scores demonstrated a significant improvement after IPP implantation: from 8.88±3.75 to 20.97±4.37 (P<0.001). The mean patients' EDITS score was 75.48±20.54, whereas mean female partners' score was 70.00±22.92, highlighting high posttreatment satisfaction for both. Regression analysis suggested a direct linear correlation of satisfaction between the sexual partners as a degree of satisfaction. There were no statistically significant differences according to level of education or implant characteristics. Concerning the etiology of ED, no conclusions could be made. CONCLUSIONS: Overcoming previous limitations in determining post-IPP implantation satisfaction, our study reiterates high rates of patient and partner satisfaction. Of particular note, patient satisfaction appears independent of prosthesis type and cylinder length.


Asunto(s)
Disfunción Eréctil/psicología , Disfunción Eréctil/cirugía , Satisfacción del Paciente , Prótesis de Pene/psicología , Parejas Sexuales/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Implantación de Prótesis , Conducta Sexual/fisiología , Conducta Sexual/psicología , Encuestas y Cuestionarios
8.
BMC Urol ; 12: 2, 2012 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-22233653

RESUMEN

BACKGROUND: Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies. CASE PRESENTATION: A 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal. CONCLUSIONS: In the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.


Asunto(s)
Anomalías Múltiples/cirugía , Enfermedades del Desarrollo Óseo/cirugía , Hermanos , Obstrucción Uretral/cirugía , Anomalías Múltiples/diagnóstico , Adulto , Enfermedades del Desarrollo Óseo/complicaciones , Enfermedades del Desarrollo Óseo/diagnóstico , Humanos , Masculino , Síndrome , Resultado del Tratamiento , Obstrucción Uretral/complicaciones , Obstrucción Uretral/diagnóstico , Retención Urinaria/complicaciones , Retención Urinaria/diagnóstico , Retención Urinaria/cirugía
9.
BMC Nephrol ; 10: 36, 2009 Nov 07.
Artículo en Inglés | MEDLINE | ID: mdl-19895701

RESUMEN

BACKGROUND: Profound alterations in immune responses associated with uraemia and exacerbated by dialysis increase the risk of developing active tuberculosis (TB) in chronic haemodialysis patients (HDPs). In the current study, was determined the impact of various risk factors on TB development. Our aim was to identify which HDPs need anti-TB preventive therapy. METHODS: Prospective study of 272 HDPs admitted, through a 36-month period, to our institutions. Specific Relative Risk (RR) for TB was estimated, considering age matched subjects from the general population as reference group. Entering the study all patients were tested with tuberculin (TST). Using Cox's proportional hazard model the independent effect of various risk factors associated with TB development was estimated. RESULTS: History of TB, dialysis efficiency, use of Vitamin D supplements, serum albumin and zinc levels were not proved to influence significantly the risk for TB, in contrast to: advanced age (>65 years), BMI, diabetes mellitus, tuberculin reactivity, healed TB lesions on chest X-ray and time on dialysis. Elderly (>70 years old) HDPs (Adjusted RR 25.3, 95%CI 20.4-28.4, P < 0.02), diabetics (Adj.RR 25.3, 95%CI 17.2-21.1, P < 0.03), underweighted (Adj.RR 72.3, 95%CI 65.2-79.8 P < 0.001), tuberculin responders (Adj.RR 41.4, 95%CI 37.9-44.8, P < 0.03), HDPs with fibrotic lesions on chest x-ray (Adj.RR 82.3, 95%CI 51.3-95.5, P < 0.03) and those treated with haemodialysis for < 12 months (Adj.RR 110.0, 95%CI 97.4-135.3, P < 0.001), presented significantly higher specific RR for TB even after adjusting for the effect of the remaining studied risk factors. CONCLUSION: The above mentioned factors have to be considered by the clinicians, evaluating for TB in HDPs. Positive TST, the existence of predisposing risk factors and/or old TB lesions on chest X-ray, will guide the diagnosis of latent TB infection and the selection of those HDPs who need preventive chemoprophylaxis.


Asunto(s)
Diálisis Renal/efectos adversos , Tuberculosis/diagnóstico por imagen , Tuberculosis/etiología , Adolescente , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Radiografía , Factores de Riesgo , Tuberculosis/terapia , Adulto Joven
10.
Clin Neurol Neurosurg ; 111(10): 816-24, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19850404

RESUMEN

OBJECTIVE: Although the literature on degenerative disease of the cervical spine contains numerous articles studying the changes on levels adjacent to a fusion, there exist very few such studies concerning cervical spine stabilization for trauma. METHODS: Over a 16-year period (1989-2005), one hundred and twelve patients underwent stabilization of the lower cervical spine (C3-T1) for subaxial cervical spine injuries, either with an anterior or posterior procedure, or both. Eighty-one patients with adequate follow-up were included in the study and 3 groups were identified: Group A, consisting of 8 patients who underwent anterior stabilization and developed Adjacent Level Ossification Development (ALOD), Group B, comprising 53 patients who were anteriorly plated but who did not develop ALOD and Group C, comprising 20 patients who received posterior stabilization. RESULTS: Eight out of 61 patients (13.1%) who were anteriorly operated developed ALOD in 11 adjacent levels (Group A). Severe (grade 3) ossification was noted in 6/8 patients at the cranial adjacent level, and in 2/8 patients at the caudal one. Three out of 8 patients presented with early ALOD at 3, 4 and 18 months respectively. Despite the radiographic abnormalities showing ossification, all the patients had an uncomplicated course without symptoms. All the radiographs of Group B and Group C patients demonstrated grade 0 ossification for both the cranial and caudal adjacent levels. CONCLUSION: Adjacent-level ossification in cervical spine injuries may appear very early in the postoperative period and it can have a different course than in the degenerative disc disease population, at least in some patients. The first cephalad level adjacent to a fusion appears to be at greater risk. However, even when ALOD is evident radiographically, it very rarely produces any symptoms.


Asunto(s)
Vértebras Cervicales/lesiones , Fusión Vertebral , Traumatismos Vertebrales/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Vértebras Cervicales/patología , Interpretación Estadística de Datos , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Examen Neurológico , Osteogénesis/fisiología , Traumatismos Vertebrales/patología , Columna Vertebral/patología , Resultado del Tratamiento , Adulto Joven
11.
J Med Case Rep ; 2: 298, 2008 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-18783597

RESUMEN

INTRODUCTION: Sciatica is a common problem, usually caused by disc herniation or spinal stenosis. Low back pain is also present in most cases. When sciatica is the unique clinical finding, especially in young patients, extraspinal pathology should be investigated. CASE PRESENTATION: We describe a rare case of sciatica in a 32-year-old man, which was developed as a complication of post-traumatic pelvic heterotopic ossification. During the operation, the sciatic nerve was found to be bluish, distorted and compressed in an hourglass fashion around a heterotopic bone mass. The heterotopic bone tissue, 4 cm in diameter, was removed and the patient had fully recovered 3 months after the operation. CONCLUSION: In cases of sciatica without back pain, the possibility of direct pressure of the sciatic nerve from cysts, tumours or bone, as in the present case, should be considered.

12.
Vascular ; 15(4): 215-20, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17714638

RESUMEN

Mycotic aneurysms of the extracranial carotid artery are uncommon and always warrant surgical treatment to prevent eventual rupture and death. Septic embolization to the brain is an even rarer complication of these aneurysms. We present a case of a 79-year-old male with an extracranial internal carotid artery mycotic aneurysm during Staphylococcus aureus bacteremia. He presented with hemiparesis owing to brain embolism from multiple septic emboli originating from the aneurysm. Multidetector computed tomographic angiography contributed to the diagnosis. Resection of the aneurysm and restoration of arterial supply to the brain by vein graft interpositioning was the therapeutic procedure along with long-term antibiotic treatment. A high index of suspicion is required for the diagnosis of a mycotic carotid aneurysm and aggressive treatment is always needed to prevent lethal complications.


Asunto(s)
Aneurisma Infectado/complicaciones , Enfermedades de las Arterias Carótidas/complicaciones , Arteria Carótida Interna/diagnóstico por imagen , Embolia Intracraneal/etiología , Infecciones Estafilocócicas/complicaciones , Anciano , Aneurisma Infectado/diagnóstico por imagen , Aneurisma Infectado/cirugía , Implantación de Prótesis Vascular/métodos , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Enfermedades de las Arterias Carótidas/cirugía , Arteria Carótida Interna/cirugía , Humanos , Embolia Intracraneal/cirugía , Imagen por Resonancia Magnética , Masculino , Infecciones Estafilocócicas/diagnóstico por imagen , Infecciones Estafilocócicas/cirugía , Tomografía Computarizada por Rayos X
14.
Scand J Infect Dis ; 38(1): 63-6, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16338841

RESUMEN

We present a case of herpetic meningoencephalitis confirmed by PCR in a 22-y-old male, with accompanying appearance of a large intracerebral haematoma as a complication. Despite the impressive imaging findings, the final outcome of the patient's progress was favourable.


Asunto(s)
Hemorragia Cerebral/etiología , Herpes Simple/complicaciones , Herpesvirus Humano 1 , Meningitis Viral/complicaciones , Adulto , Herpesvirus Humano 1/aislamiento & purificación , Humanos , Masculino , Meningitis Viral/virología
15.
Eur J Haematol ; 74(5): 430-7, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15813918

RESUMEN

Osteopathy, as a major feature of homozygous beta-thalassaemia, is a multifactorial disorder, not fully understood. We studied the lumbar vertebrae of 48 patients using Dual-Energy X-ray Absorptiometry (DXA) and Quantitative Computed Tomography (QCT), and we focused on structural properties, assessed by High Resolution Computed Tomography (HRCT). Bone Mineral Density (BMD) values were expressed as Z-scores and the results were correlated. The effect of age, sex, and type of thalassaemia and hormonal factors on BMD was assessed. We estimated, with HRCT, the cortex integrity and the number and thickness of trabeculae; the latter were classified to a three-grade scale. Our results showed the overall prevalence of osteoporosis to be 44% with DXA and 6% with QCT. Both techniques revealed an inverse correlation between age and BMD, whereas hormonal factors demonstrated associations with QCT and DXA measurements. The correlation coefficient between DXA's BMD and QCT's trabecular BMD was 0.545 (P < 0.001) whereas the corresponding value for Z-scores was r = 0.491 (P < 0.001). The classification of the patients into normal, osteopenic and osteoporotic categories, using QCT's Z, was in better agreement with the assignment based on trabecular number (K = 0.209, P = 0.053) than the classification using DXA's Z (K = 0.145, P = 0.120). Cortex evaluation by HRCT showed discontinuity in 15 patients. Both methods indicate a progression of osteoporosis with age. Hormonal deficiency is associated with thalassaemic osteoporosis whereas the visual estimation of cortex indicates that Thalassaemia Intermedia (TI) patients could be more affected than Thalassaemia Major (TM). Using the trabecular number as an indicator of osteoporosis, it seems that QCT may evaluate osteopathy better than DXA. Since the former has the ability to measure trabecular and cortical BMD separately, it could give early indication of which changes more rapidly and to what degree.


Asunto(s)
Osteoporosis/diagnóstico por imagen , Columna Vertebral/diagnóstico por imagen , Talasemia beta/complicaciones , Absorciometría de Fotón , Adolescente , Adulto , Desmineralización Ósea Patológica , Densidad Ósea , Femenino , Humanos , Hipogonadismo/diagnóstico por imagen , Hipogonadismo/etiología , Hipoparatiroidismo/diagnóstico por imagen , Hipoparatiroidismo/etiología , Masculino , Persona de Mediana Edad , Osteoporosis/epidemiología , Tomografía Computarizada por Rayos X , Talasemia beta/diagnóstico por imagen
16.
Am J Med Sci ; 329(4): 208-10, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15832105

RESUMEN

We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.


Asunto(s)
Mosaicismo , Trastornos de los Cromosomas Sexuales , Anciano , Estatura/genética , Criptorquidismo/genética , Exostosis/genética , Ginecomastia/genética , Deformidades Congénitas de la Mano/genética , Humanos , Masculino , No Disyunción Genética , Aberraciones Cromosómicas Sexuales , Cariotipo XYY
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