Clinical guidelines for late-onset Pompe disease.

Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness. With regard to diagnosis, the dried blood spots method is essential as the first step for the diagnosis of Pompe disease. The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the alpha-glucosidase gene. With regard to treatment with enzymatic replacement therapy, the experts say that is effective improving or stabilizating the motor function and the respiratory function and it must be introduced when the first symptoms attributable to Pompe disease appear.

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

AIMS: Fabry disease (FD) is an X-chromosome-linked transmitted lysosomal storage disorder as a result of the deficient activity of enzyme α-galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Europe. METHODS: Baseline clinical data of 92 patients (41 males and 51 females) are described and analysed globally and according to gender. We compare the data of Spanish patients with those previously published from the rest of Europe patients in FOS. RESULTS: Mean age of onset of symptoms in men was 20, and 24 years in women, with a mean delay of 11 years to the diagnosis in both genders. The predominant clinical involvement in male patients was renal (69%), cardiac (66%) and neurological (60%), and for female patients, it was neurological (42%), cardiac (33%), keratopathy (30%) and nephropathy (28%). Disease severity was significantly higher in male patients. Compared to the rest of European FOS-patients, Spanish patients were diagnosed at an earlier age with a smaller proportion of disease-related involvement for most organ irrespective of gender, though not its global severity in male patients. CONCLUSIONS: We present the largest cohort of Spanish patients diagnosed with FD. The pattern of involvement (though not its global severity) could be different in Spanish patients in comparison with others from Europe. Expanding the knowledge of FD will permit early diagnosis as well as the possibility of starting the specific treatment.

Age adjusting severity scores for Anderson-Fabry disease.

Anderson-Fabry Disease (AFD) is a life-threatening X-linked lysosomal storage disorder, caused by a deficiency of alpha galactosidase A. The disease affects males and females, and may present in childhood or adulthood. In the absence of a biomarker of disease burden or therapeutic response, scoring systems based on clinical manifestations, have been developed. Such global scores e.g. the Mainz Severity Score Index (MSSI) are confounded by the natural history of disease that deteriorates with age, making comparisons across age groups invalid. In this study the baseline MSSI, as adapted for data collected in the Fabry Outcome Survey (FOS) database (FOS-MSSI), was calculated for 655 females and 617 males with confirmed AFD. Using an ANCOVA model, equations for the predicted FOS-MSSI based on age were derived for males and females from data where patients from the UK or outside Europe were excluded. The initially excluded patients were used for validation. The predicted severity scores of UK and non-Europe-cohorts of adult and paediatric patients were found to follow the model produced for the European cohort thereby providing validation of the methodology. Deviation of the actual FOS-MSSI from the predicted was calculated and termed the age-adjusted score. Examples of the use of the age-adjusted score in individual patients, in comparison of mutations and in investigation of early factors which may impact on later severity of Fabry disease are given. This validated age and gender adjusted scoring system allows the comparison of disease severity in different subgroups such as genotypes without age or sex as confounding factors.

Does geographical location influence the phenotype of Fabry disease in women in Europe?

This study examines the relationship between phenotype and geographical location of patients with Fabry disease in Europe. Data were taken from patients enrolled in the Fabry Outcome Survey (FOS), as of October 2007. A modified version of the Mainz Severity Score Index (FOS-MSSI) was used to classify patients according to the severity of disease. European patients were grouped depending on country of residence (northern or southern European countries). Results are presented from 762 patients enrolled in FOS in Europe (357 men and 405 women); 66% lived in northern and 34% in southern countries. Median age at onset of symptoms of Fabry disease was similar in both sexes. No differences in disease severity were seen among men, according to place of residence; however, women living in northern countries had higher severity scores (p < 0.001) than those in southern countries. In men and women, FOS-MSSI scores increased with age, irrespective of place of residence. The results suggest that expression of different phenotypic features in Fabry disease in women living in Europe may be influenced by extra-genetic or epigenetic factors. These factors might be related to dietary or environmental influences that differ according to the patient's country of residence.

Comorbilidad, pluripatología, consumo de recursos y pronóstico de pacientes ingresados en una unidad de Medicina Interna / Comorbidity, pluripathology, resource use and prognosis of patients hospitalized in Internal Medicine Areas

Objetivo: Comparar la definición de paciente con pluripatología (PP) del Servicio de Salud de Andalucía con el índice de comorbilidad de Charlson (IC) respecto al consumo de recursos y pronóstico de enfermos hospitalizados. Pacientes y métodos: Estudio prospectivo observacional de 207 pacientes ingresados de forma consecutiva en una unidad de medicina interna en los que se determinó la presencia de PP, una variante de PP obtenida de aplicar al menos tres categorías clínicas en lugar de dos (PP3), el IC y su valor ajustado con la edad (ICE), y la relación de estas variables con el consumo de recursos (atenciones urgentes, consultas programadas de especialidades y episodios de hospitalización en los doce meses previos, duración de la estancia, procedimientos propios, procedimientos deotras especialidades e interconsultas) y pronóstico (mortalidad intrahospitalaria, deterioro funcional significativo y reingreso precoz). Resultados: La frecuencia de PP fue de 40,6% y la de PP3 de 16,9%. La mediana de la puntuación del IC fue de 2 (0-7) y la del ICE de 4 (0-11). Se detectaron las siguientes relaciones independientes: IC de 3 o mayor con reingreso precoz y duración de la estancia; ICE de 5 o mayor con la mortalidad; PP3 con la mortalidad, reingreso precoz y con urgencias, ingresos y consultas en el último año; categorías B y F de PP con las hospitalizaciones en el último año; categoría D de PP con las consultas en el último año; y la asociación de categorías A, B y C con la mortalidad y hospitalizaciones en el último año. PP no se relacionó de forma independiente con ninguna variable. Conclusión: El IC y la definición de PP no identifican la misma población de pacientes hospitalizados. Modificaciones de la definición de PP, como PP3, o el análisis de las distintas categorías clínicas de PP y sus asociaciones, podrían mejorar la utilidad de este concepto

Objective: To compare the concept of patient with pluripathology (PP) with the index of comorbidity of Charlson (IC) respect to there sources use and prognosis of hospitalized patients. Patients and methods: An observational prospective study of 207 consecutively hospitalized patients in an internal medicine unit was conducted. The PP, a variant of PP with three or more criteria (PP3), ICand IC fit to the age (ICE) were determined, and their relation with the consumption of resources (emergency attentions, programmed consultations of specialties and episodes of hospitalization in the last year, length of stay, own procedures, other specialty procedures and consulting) and prognosis (hospital mortality, significant functional deterioration and rehospitalization) were stayed. Results: The frequency of PP and PP3 was 40.6 and 16.9%, respectively.The median of the IC and ICE score were 2 (0-7) and 4 (0-11), respectively. We found the following independent relations: IC of 3 or greater with the rehospitalization and the length of stay; ICE of 5 or greater with mortality; PP3 with mortality, rehospitalization and emergency visits, hospitalizations and consultations in the last year; the categories B and F of PP with hospitalizations in the last year; the category D of PP with consultations in the last year; and the association of categories A, B and C with mortality and hospitalizations in the last year. PP was not related in an independent form with any variable. Conclusion: The IC and the concept of PP do not identify the same hospitalized patient population. Modifications of the PP definition, like PP3, or the analysis of the different clinical categories of PP and their associations, could improve the utility of this concept

[Comorbidity, pluripathology, resource use and prognosis of patients hospitalized in internal medicine areas]. / Comorbilidad, pluripatología, consumo de recursos y pronóstico de pacientes ingresados en una unidad de Medicina Interna.

OBJECTIVE: To compare the concept of patient with pluripathology (PP) with the index of comorbidity of Charlson (IC) respect to the resources use and prognosis of hospitalized patients. PATIENTS AND METHODS: An observational prospective study of 207 consecutively hospitalized patients in an internal medicine unit was conducted. The PP, a variant of PP with three or more criteria (PP3), IC and IC fit to the age (ICE) were determined, and their relation with the consumption of resources (emergency attentions, programmed consultations of specialties and episodes of hospitalization in the last year, length of stay, own procedures, other specialty procedures and consulting) and prognosis (hospital mortality, significant functional deterioration and rehospitalization) were stayed. RESULTS: The frequency of PP and PP3 was 40.6 and 16.9%, respectively. The median of the IC and ICE score were 2 (0-7) and 4 (0-11), respectively. We found the following independent relations: IC of 3 or greater with the rehospitalization and the length of stay; ICE of 5 or greater with mortality; PP3 with mortality, rehospitalization and emergency visits, hospitalizations and consultations in the last year; the categories B and F of PP with hospitalizations in the last year; the category D of PP with consultations in the last year; and the association of categories A, B and C with mortality and hospitalizations in the last year. PP was not related in an independent form with any variable. CONCLUSION: The IC and the concept of PP do not identify the same hospitalized patient population. Modifications of the PP definition, like PP3, or the analysis of the different clinical categories of PP and their associations, could improve the utility of this concept.

Natural history of Fabry disease in females in the Fabry Outcome Survey.

BACKGROUND: Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of alpha-galactosidase A activity. Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females. AIMS: This study sets out to examine the clinical features and natural history of Fabry disease in further detail in a large group of female patients. METHODS: Data were obtained from 303 females enrolled in the Fabry Outcome Survey. Pain was assessed using the Brief Pain Inventory, and health related quality of life (HRQoL) was assessed using the European Quality of Life Questionnaire. A modified version of the Mainz Severity Score Index was also applied. Data on left ventricular mass (LVM) index, mean ventricular wall thickness, and glomerular filtration rate (GFR) were used to assess cardiac and renal involvement. RESULTS: The most commonly reported clinical features in females were neurological (77%) and cardiac (59%). A history of renal involvement was recorded in 40% of cases. Neurological features were the earliest to develop (mean age: 16 years), whereas cardiac (mean age: 33.5 years) and renal (mean age: 37.3 years) features developed later. LVM index increased exponentially with age. In addition, age was negatively correlated with estimated GFR and HRQoL. CONCLUSIONS: Females with Fabry disease report important age related clinical features and clinical investigation demonstrates evidence of disease progression. This study highlights the importance of careful and longitudinal assessment of female heterozygote patients with Fabry disease.

Intoxicación familiar accidental por ingesta de Datura stramonium / Accidental familiar poisoning by Datura stramonium

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[Pheochromocytoma of the organ of Zuckerkandl. Apropos of a case]. / Feocromocitoma del órgano de Zuckerkandl. A propósito de un caso.

INTRODUCTION: Extraadrenal pheochromocytomae represent 17-18% of pheochromocytomae, 85% of which are located infradiaphragmaticaly and generally wherever there is cromaffin tissue, as in this case, located at the organ of Zuckerkand. They can also appear in the context of family syndromes, i.e. phacomatosis and MEN (IIA and IIB). CLINICAL CASE: The authors present a case of pheochromocytoma located in the organ of Zuckerkand, diagnosed in the course of uncontroled HBP. Diagnosis was achieved by metanephrine determinations and radiological tests (ultrasound, CAT and MIBG). This patient was surgically treated by exeresis of the lession previous alpha and beta adrenergic blockade with phenoxybenzamine and propanolol. Currently this patient is asymptomatic with normal blood pressor and metanephrines blood levels. DISCUSSION: Extraadrenal pheochromocytomae are usually located in superior paraaortic infradiaphragmatic region. The grade of malignancy must be established by histopathological findings, local recidives and metastasis. After clinical suspicion and the finding of a retroperitoneal mass with ultrasound, CAT and/or MRI, MIBG must be performed to confirm the diagnosis as well as to leave out possible tumours at distance. Treatment is surgery previous blockade of cathecolamines secretion by the preoperative administration of alpha blockers, with or without beta blockers.

[Obliterating bronchiolitis with organized pneumonia. Experience in a general hospital]. / Bronquiolitis obliterante con neumonía organizada. Experiencia en un hospital general.

Bronchiolitis obliterans with organizing pneumonia (BOOP) is a histopathologic entity that has been described in association with numerous clinical conditions. In the 1980s an idiopathic form was described as a definite clinicopathologic entity differentiated from other infiltrative pulmonary processes. We present 7 patients diagnosed of BOOP over the past 6 years and discuss their clinical and radiologic signs as well as their response to steroid treatment. Our patients' evolution was subacute, cough and fever being the main symptoms. Lung function tests revealed a pattern that was predominantly restrictive. Radiology showed 1 or several alveolar infiltrates in all patients; these were migratory in 3. Bilateral pleural effusion with marked eosinophilia in pleural fluid was observed in 1 patient. In another cavitated nodules were present in chest-X-ray, with no evidence of vasculitis in tissue examination. All patients were treated with steroids (mean 10 months) and a low maintenance dose was required in only 1. The remaining patients experienced full recovery.