Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.

BACKGROUND: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up. Thus, the aim of this study was to estimate age-related penetrance in ATTRV30M variant carriers from Majorca. METHODS: The disease risk among carriers from ATTRV30M families from Majorca was estimated by Non-parametric survival estimation. Factors potentially involved in the disease expression, namely gender and parent of origin were also analysed. RESULTS: A total of 48 heterozygous ATTRV30M families (147 affected patients and 123 were asymptomatic carriers) were included in the analysis. Penetrance progressively increased from 6% at 30 years to 75% at 90 years of age. In contrast to other European populations, we observe a similar risk for both males and females, and no difference of risk according to the parent of origin. CONCLUSIONS: In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals.

Sífilis en hombres que tienen sexo con hombres: una alarma para la detección de infección por VIH / Syphilis in Men Who Have Sex With Men: A Warning Sign for HIV Infection

OBJETIVOS: Describir las características clinicoepidemiológicas de la sífilis en la población de hombres que tienen sexo con hombres en un área de Mallorca. MÉTODOS: Revisión retrospectiva de los casos de sífilis en pacientes hombres que tienen sexo con hombres (HSH) entre enero de 2005 y junio de 2013 en un hospital de Mallorca. RESULTADOS: Encontramos 55 casos de sífilis en HSH, el 34,3% de los casos de sífilis del periodo de estudio. El 74,5% tenían coinfección por el virus de la inmunodeficiencia humana (VIH). El 70,7% de los diagnósticos de infección por VIH y sífilis fueron simultáneos. Los pacientes con infección por VIH tenían una mediana de CD4 de 456 (29-979). Se diagnosticaron por clínica el 49,1% y por cribado el 50,9% de los casos. La sífilis latente tardía o indeterminada fue la entidad más frecuente (41,9%). Los pacientes HSH tenían más riego de estar infectados por VIH que los varones no HSH. CONCLUSIONES: La mayoría de pacientes HSH con sífilis presentan coinfección por el VIH, siendo por lo tanto fundamental el cribado de VIH en estos pacientes, lo que incluso puede permitir un diagnóstico temprano de la misma

OBJECTIVE: To describe the clinical and epidemiological characteristics of syphilis in men who have sex with men (MSM) in an area of Mallorca, Spain. METHODS: We performed a retrospective analysis of syphilis cases in MSM seen at a hospital in Mallorca between January 2005 and June 2013. RESULTS: Fifty-five cases of syphilis were recorded in MSM during the study period (34.3% of all cases diagnosed), and 74.5% of these patients had human immunodeficiency virus (HIV) coinfection. The two diseases had been diagnosed simultaneously in 70.7% of this population. Patients with HIV coinfection had a median CD4 count of 456cells/μL (range, 29-979 cells/μL). Syphilis was diagnosed clinically in 49.1% of cases and by screening in the remaining 50.9%. The most common form of syphilis was late latent or indeterminate syphilis (41.9% of cases). In the group of men with syphilis, MSM had a higher risk of HIV infection. CONCLUSIONS: A majority of MSM with syphilis had HIV coinfection. HIV screening is therefore essential in this population and could even result in early diagnosis

Syphilis in Men Who Have Sex With Men: A Warning Sign for HIV Infection.

OBJECTIVE: To describe the clinical and epidemiological characteristics of syphilis in men who have sex with men (MSM) in an area of Mallorca, Spain. METHODS: We performed a retrospective analysis of syphilis cases in MSM seen at a hospital in Mallorca between January 2005 and June 2013. RESULTS: Fifty-five cases of syphilis were recorded in MSM during the study period (34.3% of all cases diagnosed), and 74.5% of these patients had human immunodeficiency virus (HIV) coinfection. The two diseases had been diagnosed simultaneously in 70.7% of this population. Patients with HIV coinfection had a median CD4 count of 456cells/µL (range, 29-979 cells/µL). Syphilis was diagnosed clinically in 49.1% of cases and by screening in the remaining 50.9%. The most common form of syphilis was late latent or indeterminate syphilis (41.9% of cases). In the group of men with syphilis, MSM had a higher risk of HIV infection. CONCLUSIONS: A majority of MSM with syphilis had HIV coinfection. HIV screening is therefore essential in this population and could even result in early diagnosis.

Antiphospholipid syndrome, antiphospholipid antibodies and solid organ transplantation.

Antiphospholipid syndrome is considered a high risk factor for any kind of surgery. Considering that all solid organ transplants are critically dependent on the patency of vascular anastomosis, there is much concern about the consequences this pro-thrombotic condition may have on transplantation. Relatively little information is available in the literature assessing the real risk that antiphospholipid syndrome or the presence of antiphospholipid antibodies represent in solid organ transplantation. The aim of this article is to review the literature related to transplantation of solid organs in patients diagnosed with antiphospholipid syndrome or patients with positive antiphospholipid antibodies.

Pyoderma gangrenosum and systemic lupus erythematosus: a report of five cases and review of the literature.

Pyoderma gangrenosum (PG) is an uncommon, distinctive cutaneous ulceration which is usually idiopathic, but may be associated with many systemic disorders. The etiopathogenesis of PG is still not well understood. PG is part of the spectrum of the neutrophilic dermatoses and it has been proposed as a prototype of cutaneous autoinflammatory disease. PG usually has a good outcome under immunosuppressive treatment. Although PG has been associated with several systemic diseases, it has rarely been reported in association with systemic lupus erythematosus (SLE). In this article we report five cases of SLE-related PG and review the literature. Our findings support the possible relationship between active SLE and PG, although the mechanism remains unclear. Clinical manifestations, used treatments and outcomes of SLE-related PG do not differ from the described for the general population.

Fibromuscular dysplasia presenting with asymptomatic bilateral renal infarctions.

Fibromuscular dysplasia (FMD) is a noninflammatory nonatherosclerotic vascular disease. It is the second cause of renovascular hypertension after atherosclerosis. Although FMD usually has a good prognosis, renal infarctions and artery dissections have been described. We present the case of a 38-year-old woman with hypertension and asymptomatic bilateral renal infarctions. Bilateral FMD of segmental branches of the renal arteries was diagnosed by digital subtraction angiography after an exhaustive study. Previous intake of nonsteroidal anti-inflammatory drugs may also have played a significant role in the development of renal infarctions. To our knowledge, bilateral renal infarctions complicating FMD have been reported in only four previous cases; only in one of those cases, renal infarctions were asymptomatic.

Hepatitis C virus infection: looking for interferon free regimens.

Recent developments of new drugs' combinations are changing the treatment paradigm in hepatitis C virus infection. Due to the side effect profile of pegylated interferons, interferon-sparing regimens have become the main target in chronic hepatitis C treatment research. Recent proofs of concept studies have suggested that cure of chronic hepatitis C can be achieved without interferon. The purpose of this paper is to provide an overview of the clinical results recently reported for the treatment of hepatitis C virus infection with interferon-free regimens, focusing on the most promising new compounds and combinations.

Clinical response to ertapenem in severe community-acquired pneumonia: a retrospective series in an elderly population.

To evaluate in routine hospital practice the clinical response to ertapenem in comparison with other parenteral antibiotics in the treatment of community-acquired pneumonia (CAP), clinical records from patients with severe CAP treated with ertapenem from July 2002 to June 2006 in seven Spanish hospitals were retrospectively reviewed. Patients were classified according to the Pneumonia Severity Index (PSI). Each ertapenem-treated patient was matched with two patients in the same hospital treated with other antibiotics, according to age (difference 76 years). Comorbidities were present in 193 patients (95.5%). No differences were found in median hospital stay (7 days for ertapenem vs. 10 days for comparators, p 0.066). A slightly higher clinical response rate was obtained for ertapenem vs. comparators (88.7% vs. 77.1%; p 0.0465; OR 2.25; 95% CI 0.99-5.12), with significant differences in clinical response in patients coming from nursing homes (95.8% ertapenem vs. 63.8% comparators; p 0.0034) but not in non-institutionalized patients (85.4% ertapenem vs. 84.5% comparators; p 0.929). The higher clinical response to ertapenem vs. comparators in severe CAP was due to its significantly higher efficacy in healthcare-associated CAP in patients coming from nursing homes.

Atención psicológica y psiquiátrica en Cuidados Paliativos (II): ansiedad, depresión, delirium, duelo, burnout / No disponible

El objetivo del presente artículo es revisar algunos aspectos relacionados con la epidemiología, el diagnóstico y el tratamiento de los trastornos psiquiatricos más frecuentes en pacientes terminales: depresión, ansiedad y delirium. Los trastornos emocionales en pacientes con enfermedades incurables nunca deben ser abordados como inevitables o intratables. En esta línea, es posible conseguir una mejoría en el estado psicológico del paciente a pesar de que la enfermedad física siga avanzando. También la salud mental del personal sanitario y de la familia y otros cuidadores del paciente terminal es vulnerable a las alteraciones psicológicas, por lo que se abordan trastornos como el síndrome de desgaste psíquico profesional y el duelo complicado

The purpose of this article is review some aspects related with the epidemiology, diagnosis and management of psychiatric disorders centred in terminal patients: depresión, anxiety and delirium. We support that emotional disorders in patients with incurable disease should be dismissed as inevitable or untreatable. Worthwhile improvements in psychological state can often achieved even though the physical illness continues to advance. Also healthcare staff and the family of end-of-life patients are vulnerable to emotional disorders. Burnout syndrome and complicated bereavement are examined

[How to reduce the number of cesarean sections?]. / Que hacer para reducir el número de cesáreas?

The cesarean section (C) frequency has increased dramatically as high as 62%. This situation has been producing a real preoccupation in all the world as well as in México. Documented bibliography about this subject, is unquestionable. We feel that at this time there is a lack of punctuals strategies in order to reduce the high frequency of C. Our communication analyzes this problem in relation to antecedents, evolution and integrated general strategies in order to reduce the C rates. Special analysis and comments involve amnioinfusion, trials for vaginal deliveries in case of previous cesarean section, prostaglandins, and external version. With these actions, at the Antiguo Hospital Civil de Guadalajara we have achieved 10.8% of C. rates, without any increase in fetomaternal morbility and/or mortality.

[Immunopathology of early abortion: current status]. / Inmunopatología del aborto temprano: lo actual.

We reviewed the bibliography concerning the roles involved in the immunological mechanism related to the etiology of miscarriage, pointing out the main theories specially related to the Major Histocompatibility Complex and TLX antigen all together are beginners of the antiidiotype reaction in order to avoid having a miscarriage. It is mentioned that the blocking antibodies, suppressor cells and interleukines arrest the citotoxic immune mechanism against the fetal allograft. The new therapeutic approach is mentioned.

[Interleukins and pregnancy: a disputed reality]. / Interleukinas y embarazo: una realidad cuestionada.

We are reviewing information concerning to the role of interleukins (ILs) in labor and pregnancy; these substances produce the ignition of the arachidonic acid/prostaglandins cascade to induce labor, this process could be also activated by bacterial lipopolysaccharides in this case we could have preterm labor. The activity and production of IL-2 normally is inhibited, if it does not happen an abortion could result. IL-3 and stimulatory growth factors (SGFs) are implicated in the growth and development of the pregnancy, the alteration in the production of this IL could produce intrauterine growth retardation, both of this ILs are acting in the maternal fetal interface. We consider very important that the gynecologists and obstetricians should have more information about ILs related to normal and complicated pregnancy.