Papel de la genética en la etiología de las sinucleinopatías

The protein family known as synucleins is composed of α-, β- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the β-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.     

Epidemiología de la acromegalia en España

Epidemiology of acromegaly in Spain does not differ from that reported in other published series. Prevalence rate is approximately 60 cases per million, peak incidence occurs in middle age, more women are affected (61%), and there is a substantial delay between occurrence of the first symptoms and diagnosis. Studies REA (Spanish Acromegaly Registry) and OASIS analyzed the epidemiology, clinical characteristics, and management of the disease in Spain. Surgery, performed in more than 80% of patients, has been (and continues to be) the main treatment for the past four decades. In the past decade, however, more patients have received somatostatin analogs (SSAs) as first-line treatment. Use of radiation therapy has significantly decreased in recent decades. Somatostatin analogs (SSAs) are the most commonly used drugs, administered to 85% of patients; however, only 12%-15% continue on drug treatment alone. The surgical remission rate was 38.4% in the last decade, with a significant improvement over decades. Preoperative treatment with SSAs has no influence on surgical cure rates. Second-line therapies used after surgical failure in the past decade included SSAs in 49% of patients, repeat surgery in 27%, radiotherapy in 11%, pegvisomant in 15%, and dopamine agonists in 5%. Mean cost of acromegaly treatment was 9.668€ (data estimated in 2009 and adjusted in 2010), of which 71% was due to the cost of SSAs. Patients treated with pegvisomant have a more aggressive form of the disease and higher comorbidity rates.     

Incorporación de la ecografía y la punción de tiroides a la actividad de endocrinología en una consulta de alta resolución

IntroductionFine-needle aspiration biopsy (FNAB) is considered the reference diagnostic procedure for thyroid nodules.Materials and methodsRoutine performance of thyroid ultrasound and ultrasound-guided FNAB by endocrinologists allows a more efficient approach in the setting of a high-resolution practice, thus reducing costs and the time elapsed until diagnosis.ResultsWe present our initial results of this procedure 2 years after its introduction, with a total of 286 biopsies performed. After a progressive learning curve over time and according to the endocrinologists’ previous experience, 72.72% samples were considered satisfactory for diagnosis. Greater difficulty was observed in obtaining optimal cytological specimens in smaller nodules. In conclusion, we have successfully incorporated thyroid ultrasound and ultrasound-guided FNAB into routine endocrine practice.ConclusionRoutine performance of thyroid ultrasound in endocrine practice will considerably aid the management of nodular thyroid disease.     

Anfotericina B liposomal: farmacología clínica,farmacocinética y farmacodinamia

Liposomal amphotericin B is a lipid formulation of the antifungal drug amphotericin B with some distinguishing characteristics in its pharmacological behavior that entail some clinical differences of great interest. The significant improvement in the systemic and renal tolerability is one of them. This fact is related to the great stability of the liposome, promoted by its negative charge, the presence of cholesterol and the remarkable thermo-stability of the remaining lipids that compose it. In this situation, amphotericin B seems to be released from the liposome not spontaneously but when the liposome binds to the ergosterol in the fungal cell membrane. For this reason, there is almost no free amphotericin B in plasma or tissues, although it seems that its availability is greater when there is fungal infection. As a consequence, when the pharmacokinetic behavior is studied, the concentration and availability of liposomal amphotericin B are very high, and its volume of distribution is reduced in comparison with the other formulations.     

El anciano en la unidad de geriatría de agudos

Although the implementation of acute geriatric units (AGUs) in general hospitals has a grade A of evidency, in Spain, only 12% of them have this resource. The estimation of geriatric especializad beds for the care of acute frail elderly people is of 2.6/1000 inhabitants older than 75 years. AGUs have demonstrated to reduce the functional loss associated with the hospitalization and to increase the percentage of older people that can return home, without increases in mortality nor costs. In this review we present the characteristics of patients who benefit from AGUs, the services offered, the structure and functioning of the unit, the role of the professionals that work in it and the quality indicators that must be acomplished.     

Resultado de la actualización de la vía clínica de la fractura de cadera del anciano en un hospital universitario de Madrid

Background and objectivesOrthogeriatric management with clinical pathways (CP) in hip fracture (HF) has been shown to be superior to other models. We studied whether updating the CP, through prioritization of admission and surgery, improvement in the prevention and treatment of delirium, management of anticoagulants and antiplatelet agents and the use of perioperative peripheral nerve block, modifies surgical delay, stay, readmissions, mortality, suffering delirium and functional status at discharge.Material and methodA retrospective observational study of unicenter cohorts of 468 patients with HF, 220 from 2016 (old VC) and 248 from 2019 (new VC). The variables are: intervention in the first 48 hours, surgical delay (hours), stay (days), stay less than 15 days, delirium, functional loss at discharge (Barthel prefracture scale less Barthel scale at discharge), readmission at one month, and mortality at admission, month and year.ResultsMedian age: 87.0 [interquartile range 8.0], mostly women (76.7%). Significantly, with the new VC, there was a greater number of patients operated on in the first 48 hours (27,7% vs 36,8% p = 0.036), less surgical delay (72.5 [47,5-110,5] vs 64.0 [42,0-88,0] p < 0.001), shorter stay (10,0 [7,0-13,0] vs 8,0 [6,0-11,0] p < 0.001), greater number of discharges in 15 days (78,2% vs 91,5% p < 0.001), lower delirium (54,1% vs 43,5% p = 0.023). No significant changes in readmissions, functional loss at discharge, mortality at admission, 3 months or year.ConclusionsUpdating the VC brings benefits to the patient (less surgical delay, equal functional status at discharge with fewer days of admission) and benefits in management (lower admission) without modifying mortality.     

Guía clínica de manejo de la diabetes insípida y del síndrome de secreción inapropiada de hormona antidiurética en el postoperatorio de la cirugía hipofisaria

Changes in water metabolism and regulation of vasopressin (AVP) or antidiuretic hormone (ADH) are common complications of pituitary surgery. The scarcity of studies comparing different treatment and monitoring strategies for these disorders and the lack of prior clinical guidelines makes it difficult to provide recommendations following a methodology based on grades of evidence. This study reviews the pathophysiology of diabetes insipidus and inappropriate ADH secretion after pituitary surgery, and is intended to serve as a guide for their diagnosis, differential diagnosis, treatment, and monitoring.     

Etiología de la candidiasis en pediatría: análisis comparativo con el paciente adulto

BackgroundCandida spp. represents a group of commensal yeasts that can act as pathogens and cause candidiasis in different anatomical locations.AimsThe aim of this study was to perform an epidemiological and comparative analysis between the isolates of Candida spp. in clinical specimens during a three year-period (2010-2012) from children (0-14 years) and adults (15-99 years) in the Valencian Community (RedMIVA).MethodsThe microbiological surveillance network of Valencian Community was used as the information source.Results and conclusionsCandida was isolated in 52,436 patients (1,604 [3.1%] children and 50,832 [96.9%] adults). Candida albicans was significantly (p < 0.05) the predominant species in both age groups, and in almost every type of clinical specimen. The distribution of other species varied depending on the sample type and age group. In blood specimens, Candida parapsilosis followed by C. albicans, Candida famata and Candida lusitaniae were the main species found in children, whereas C. albicans followed by C. parapsilosis, Candida glabrata and Candida tropicalis were the predominant species in adults. In sterile fluids, urine and lower respiratory tract samples, C. parapsilosis was the second most prevalent species in the children group, while C. glabrata and C. tropicalis were the main second species in adults.