Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy.

Introduction And Objective: Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT).

Palliative medicine for patients with advanced heart failure: New evidence.

Although heart failure is one of the most common clinical syndromes in medicine and has a high mortality rate, few patients have access to adequate palliative care for their clinical situation. Several trials have recently been published on the usefulness of starting palliative treatment along with cardiac treatment for patients with advanced heart failure. In this review, we analyse the aspects of diagnosing and controlling the symptoms of patients with advanced heart failure and provide a collection of clinical trials that have analysed the efficacy of a palliative intervention in this patient group.

Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.

Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease.

Mineral metabolism disorders, vertebral fractures and aortic calcifications in stable kidney transplant recipients: The role of gender (EMITRAL study).

Background And Objectives: The relationship between mineral metabolism disorders, bone fractures and vascular calcifications in kidney transplant recipients has not been established.

Method: We performed a cross-sectional study in 727 stable recipients from 28 Spanish transplant clinics. Mineral metabolism parameters, the semi-quantification of vertebral fractures and abdominal aortic calcifications were determined centrally.

Comparison of bioimpedance spectroscopy and the Watson formula for measuring body volume in patients on peritoneal dialysis.

Introduction: Knowing total body volume (V) is crucial in patients on peritoneal dialysis (PD). It is usually calculated by the Watson anthropometric formula, although the use of bioimpedance spectroscopy (BIS) is becoming increasingly widespread. Measuring V with both methods can at times produce quite different results.

[The second kidney transplantation in Spain].

The first two living donor kidney transplants in our country (isotransplant and homotransplant respectively) were reported in 1961. We reviewed the clinical history of the renal homotransplant performed between father and son, more than half a century ago, by Carlos Younger de la Peña and Ramiro Rivera at "La Paloma' Clinic in Madrid. We comment on the organizational, legal, immunobiological and technical difficulties in those times when the successful future of transplantation was barely in sight.

[Comparison of patients from a Spanish Registry of Fabry disease in two periods].

Background And Objective: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, that leads to multiorgan dysfunction and premature death. Data from the first 24 Spanish patients enrolled on the Fabry Outcome Survey (FOS) were published in 2004, with a significant increase in the number of patients since then. This manuscript analyzes whether the clinical profile or diagnosis of these patients between the 2 periods has changed.

[Profile of the patient with inadequate follow-up and control of cardiovascular risk factors after suffering an acute myocardial infarction].

Objective: To draw up a profile of patients with inadequate follow-up and control of cardiovascular risk factors (CVRF) after acute myocardial infarction (AMI).

Design: Cohort study.

Setting: Primary care in Albacete, province of Castilla-La Mancha, Spain.

[Hemoperitoneum and death due to hepatoesplenic metastasis rupture in a testicular tumor].

We present a case of a mix germinal testicular tumor, in III-C (AJCC-UICC) stage, at a terminal phase due to massive methastasis rupture at hepatic and splenic methastasis locations.

[Carlos Younger de la Peña (1920-1996). "Urology in Madrid during the second half of the 20th century"].

Carlos Younger de la Peña (1920-1996) was one of the representative urologists of his time, both in urology as a whole and particularly in urology in Madrid, during the 40 years between 1945 to 1985. His professional training was linked to the department of urology in the "La Princesa" Hospital chaired by Dr. Pedro Cifuentes Díaz first and Luis Cifuentes Delatte posteriorly.

[Evaluation of guidelines for the assessment of success after vasectomy and needed improvements].

Objectives: The evaluation of a recently established guidelines about the assessment of semen samples after vasectomy in the laboratory of the Hospital General of Albacete and to modify them to optimize the number of semen samples provided per patient but keeping in concordande with the international recommendations.

Patients And Methods: The records of seminal analysis results from vasectomies performed from January 2002 to December 2004 were reviewed. Our vasectomy guidelines are based upon those of the British Andrology Society (BAS) and those of the World Health Organization for seminal assessment.

[Effect of cardiovascular risk factors on long-term morbidity and mortality following acute myocardial infarction].

Introduction And Objectives: Generally, cardiovascular risk factors are poorly controlled after myocardial infarction. The objective of this study was to determine the effect of these risk factors on long-term morbidity and mortality in patients experiencing a myocardial infarction.

Methods: In total, 655 acute myocardial infarction survivors recorded in the IBERICA database for the Spanish province of Albacete were followed up.

[Influence of the analytical process in the appearance and disappearance of the spermatozoa after vasectomy].

Objectives: To evaluate if the analytical process might justify that in some patients rare non motile sperm might be seen in some but not all their post-vasectomy semen samples.

Patients And Methods: Post vasectomy ejaculates received in our Center from january 2002 to december 2004 were reviewed. We used our own guidelines for post vasectomy semen assessment based upon those of the British Andrology Society for the evaluation of post vasectomy semen samples and the World Health Organization guidelines for semen analysis.

[Promoter hypermethylation status of the mismatch repair gene hMLH1 in patients with sporadic renal cell carcinoma].

Background And Objective: Epigenetic inactivation is a gene function abnormality that produces no changes in the DNA sequence, with the most frequent epigenetic alteration being hypermethylation of CpG islands in the promoter regions of the genes. Based on recent indications of a potential relationship between mismatch repair genes and renal cell carcinoma (RCC), we were interested in investigating the existence of promoter hypermethylation of the hMLH1 gene in tumor DNA samples from patients with sporadic RCC.

Material And Method: Sixty-five tumor tissue specimens were collected consecutively.

[Malignant melanoma of the penis. Report on one case].

Objectives: Due to the fact that melanoma of the penis is rare, we perform a bibliographic review about the subject and analyze the diagnostic criteria, clinical stages and therapeutic options.

Methods: We report one case that was diagnosed and treated in our department.

Results: 85-year-old male who presented with hematuria and a red brownish irregular elevated lesion in the glans penis.

[Computer-aided electronic prescribing in Spanish hospitals].

Objective: To describe electronic prescribing in a sample of Spanish hospitals and activities derived from its implementation in Hospital Pharmacy Departments, software features and acceptance.

Method: A survey that included data related to program implantation and performance in hospitals with diverse characteristics was designed. It was posted at the Sociedad Española de Farmacia Hospitalaria website for a 6-month period and completed by phone.

[Urachal pathology: an overview review and report of three clinical cases].

With the use of these two clinical cases (cyst and urachal adenocarcinoma) we did an overview of the urachal pathology. The urachus cyst is usually asyntomathic, it's detected randomly when we do other diagnostic tests or when we have any complications. The urachal adenocarcinoma is a rare pathology, it usually exhibit hematuria and we need to follow the same diagnostic tools as we use in vesical tumors (cystoscopy and transurethral vesical resection).

p53 Gene mutations in superficial bladder cancer.

Objectives: To assess the presence of p53 gene mutations in superficial tumors of the urinary bladder (transitional cell carcinoma) and their relationship to classic prognostic factors for cancer recurrence and progression. To analyze the implication of these mutations on the P53 protein structure.

Materials And Methods: Observational, cross-sectional study of 90 consecutive patients, 60 with superficial transitional cell carcinoma (pTa and pT1) and 30 without neoplastic disease (control group).

[Penile incarceration by a steel ring].

Objectives: To report a new case of penile incarceration by a metallic object.

Methods: 28-year-old male presenting to the emergency room with a ring at the medial part of the penis that he was unable to remove. The ring was placed 16 hours before.

[Hospital Pharmacy Departments on the internet. An unfinished business?].

Objective: To establish the percentage of Pharmacy Departments with a web site on the Net, and to analyze whether their contents are focused on the development of pharmaceutical care activities for outpatients.

Methods: Cross-sectional study based on multiple Internet searches using the Copernic version 6.0 software, as well as on directories listing hospital- and pharmacy department-owned web sites.

[Fabry's disease in Spain. Study of 24 cases].

Background And Objective: Fabry's disease is a rare metabolic disorder inherited as an X-linked trait resulting from a decreased activity of the alpha-galactosidase A lysosomal enzyme. This defect leads to an accumulation of unmetabolized neutral glycosphingolipids in all cell types. This condition displays a high rate of early mortality and affects both hemizygous males and heterozygous females.

[Cost-benefit analysis of a semi-automated process in the preparation of unit-doses by the Pharmacy Department].

Objective: To determine in monetary terms the effect of implementing a semi-automated procedure for preparation of drugs for unit dose distribution.

Methods: The current net value was estimated for three different flows involved in the evaluation of semi-automated drug storage and retrieval systems used in the unit dose distribution area in a hospital: capital investment, staff costs and structural costs related to physical space occupied.

Results: Implantation of the new work procedure produced an annual saving of 32,390 euro in staff costs and 5,645 euro in structural costs.

[Complications after radical cystectomy in patients with bladder carcinoma].

Objective: To describe the frequency and type of complications after radical cystectomy for cancer of the urinary bladder and their relationship with the different types of urinary diversion techniques utilized.

Methods: We conducted a retrospective study of 166 patients who underwent radical cystectomy in the same department of urology over a period of 12 years. The intraoperative, early, late complications and the need for postoperative treatments are analyzed according to percentages, main trends, scatter and confidence interval.

[Quality of life of patients after radical surgery of bladder cancer].

Objective: To analyze the impact of surgery for bladder cancer on the patient's quality of life.

Methods: The SF-36 questionnaire was utilized to assess the quality of life of 53 cystectomized patients. Sociodemographic data, associated and surgery-related morbidity, type of urinary diversion, anatomopathological stage and current oncological status were analyzed.