Myasthenia gravis and endurance exercise

This is the first report of a runner with myasthenia gravis who completed an ultra endurance event. Myasthenia gravis, a neuromuscular disease that usually results in skeletal muscle weakness, which worsens with exercise and strenuous aerobic exercise, is generally contraindicated. Our runner completed a 220-km, 5-day ultramarathon and presented with various symptoms including muscular skeletal weakness, cramps, generalized fatigue, unintelligible speech, involuntary eye and mouth movements, problems swallowing, food lodging in his throat, and problems breathing. Risk factors identified for exacerbations are running in extreme temperatures, prolonged runs (especially a distance of 30 km or more), running uphill, lack of sleep, and stress. The medical team was in the novel situation to look after a runner with myasthenia gravis and needed to be aware of the patient's condition, symptoms, and risk factors to safely care for him.     

Economic evaluation of public health interventions

The scarcity of resources available to meet the growing demand for healthcare services has increased interest in economic evaluation as a tool to inform resource allocation. The aim of economic evaluation is to compare various alternatives for action, in terms of their costs and effects on health, by using several techniques: cost minimization analysis, cost-effectiveness analysis, cost-utility analysis, and cost-benefit analysis. Irrespective of the methodology used, any assessment must include scope of the problem, selection of alternatives for comparison, explication of the perspective of analysis and the time horizon, measurement and evaluation of costs and health effects, presentation of results, and sensitivity analysis. In Spain, evaluation of currently ongoing preventive interventions, and adherence to the existing economic evaluation guidelines by researchers would be desirable.     

A new prognostic model identifies patients aged 80 years and older with diffuse large B‐cell lymphoma who may benefit from curative treatment: A multicenter,retrospective analysis by the Spanish GELTAMO group

The means of optimally managing very elderly patients with diffuse large B‐cell lymphoma (DLBCL) has not been established. We retrospectively analyzed 252 patients aged 80‐100 years, diagnosed with DLBCL or grade 3B follicular lymphoma, treated in 19 hospitals from the GELTAMO group. Primary objective was to analyze the influence of the type of treatment and comorbidity scales on progression‐free survival (PFS) and overall survival (OS). One hundred sixty‐three patients (63%) were treated with chemotherapy that included anthracyclines and/or rituximab, whereas 15% received no chemotherapeutic treatment. With a median follow‐up of 44 months, median PFS and OS were 9.5 and 12.5 months, respectively. In an analysis restricted to the 205 patients treated with any kind of chemotherapy, comorbidity scales did not influence the choice of treatment type significantly. Independent factors associated with better PFS and OS were: age < 86 years, cumulative illness rating scale (CIRS) score < 6, intermediate risk (1‐2) R‐IPI, and treatment with R‐CHOP at full or reduced doses. We developed a prognostic model based on the multivariate analysis of the 108 patients treated with R‐CHOP‐like: median OS was 45 vs. 12 months (P = .001), respectively, for patients with 0‐1 vs. 2‐3 risk factors (age > 85 years, R‐IPI 3‐5 or CIRS > 5). In conclusion, treatment with R‐CHOP‐like is associated with good survival in a significant proportion of patients. We have developed a simple prognostic model that may aid the selection patients who could benefit from a curative treatment, although it needs to be validated in larger series.     

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

Intrachromosomal triplications are rare and can be mistaken for duplications. The majority of triplications reported are de novo, mostly involving chromosome 15q, and have a middle inverted repeat. We report on the clinical, cytogenetic, and molecular analyses of a patient with a novel triplication 13q21.1-q21.33 secondary to a familial duplication 13q21.1-q21.33 with mild phenotypic effect in three generations. The propositus was an 8-year-old boy referred because of language delay and mild mental retardation. His weight, height and OFC were above the 97th centile. He had delayed tooth eruption and subtle dysmorphic features. Chromosome analysis (550 band stage) showed extra material in 13q21. Family history was unremarkable except for adult-onset sensorineural hearing loss in the father and paternal grandfather. Their karyotypes and those of both brothers of the propositus also showed an abnormal chromosome 13 but with less extra genetic material. FISH analysis with several BAC clones showed a triplication in the propositus between 204N9 and 184B18 (which mapped to 13q21.1 and 13q21.33, respectively) and a direct duplication for the same fragment (around 12 Mb) in the rest of the family members with the abnormal chromosome 13. The FISH signals did not show a middle inverted repeat. We describe the first intrachromosomal triplication 13q21.1-q21.33 derived from a paternal duplication. Meiotic instability in the transmission of a duplication has not been previously observed. Phenotypic variability may be explained by chromosomal non-penetrance or dosage critical loci located in the triplicate/duplicate segment.     

Doxorubicin and cyclophosphamide followed by weekly docetaxel as neoadjuvant treatment of early breast cancer: analysis of biological markers in a GEICAM phase II study

Introduction  To evaluate the sequential administration of doxorubicin (A) and cyclophosphamide (C) followed by weekly docetaxel in women with stage II to IIIA breast cancer. Patients and methods  Patients received 60 mg/m² of A and 600 mg/m² of C every three weeks for four cycles followed by 12 infusions of weekly docetaxel at a dose of 36 mg/m² and with a 2-week resting period. Results  Sixty-three women were included. On an intentionto-treat basis, clinical response rate was 90% (95% CI: 83–98), with 46% complete responses. Breast-conserving surgery could be performed in 43 patients (68%). Complete pathological responses in the breast were confirmed in 17% of patients. No correlations between levels of expression of topoisomerase II alpha, survivin or p27 and the pathological response were detected. The study treatment was generally well tolerated. Conclusion  Neoadjuvant AC followed by weekly docetaxel is a feasible regimen for patients with early-stage breast cancer.     

Atención a menores con progenitores en conflicto en materia de información y consentimiento relativos a la salud de los hijos. Protocolo asistencial en el contexto de la legislación vigente

Among the main social and legislative changes as regards family matters that have taken place in Spain in the last few years, are included: (i) the gradual increase in legal disputes between parents, and (ii) the introduction of Law 26/2015 on Child Protection, which modified Law 41/2002 on the Freedom of the Patient. These searched for a balance between the rights of minors and the powers of the parents, particularly when the former had not reached 16 years or had sufficient maturity or, having reached it, the decision puts their life or health at severe risk. Likewise, it has led to a jurisprudence that determines that, for any minor, there are particularly sensitive, “special” or “important” health care actions, such as psychotherapy or surgical treatments, which require, with exceptions, the consent of both parents for it to be carried out. All this, however, subject to the discretion of the doctor responsible, who must always look after the best interests of the minor. For this reason, healthcare for minors, occasionally, lead to complex conflicts as regards information and consent by the parents, particularly when they do not agree. A review is presented on the current legislative framework and the main legal concepts that regulate the healthcare of minors as regards information and consent relative to health, as well a healthcare protocol for the care of minors in situations of conflict between parents, developed in the Gregorio Marañón Hospital of Madrid, and endorsed by the Official Medical Collegiate of Madrid.     

Analytical model for calculating indeterminate results interval of screening tests,the effect on seroconversion window period: A brief evaluation of the impact of uncertain results on the blood establishment budget

The evaluation of measurement uncertainty is not required by the European Union regulation for blood establishments' laboratory tests. However, it is required for tests accredited by ISO 15189. Also, the forthcoming ISO 9001 edition requires “risk based thinking” with risk described as “the effect of uncertainty on an expected result”. ISO recommends GUM models for determination of measurement uncertainty, but their application is not intended for ordinal value measurements, such as what happens with screening test binary results. This article reviews, discusses and proposes concepts intended for measurement uncertainty of screening test results. The precision model focuses on cutoff level allowing the evaluation of the indeterminate interval using analytical sources of variance. The interval is considered in the estimation of the seroconversion window period. The delta-value of patients and healthy subjects' samples allows ranking two tests according to the probability of the two classes of indeterminate results: chance of false negative results and chance of false positive results (waste on budget).     

Constipation during pregnancy: a longitudinal survey based on self-reported symptoms and the Rome II criteria

An increase in the prevalence of constipation during pregnancy has been suggested to occur. We designed a prospective study to evaluate the prevalence of constipation during pregnancy and puerperium, to investigate possible associations with eating habits and lifestyle, and to evaluate the frequency of laxative use. A structured questionnaire was developed addressing demographics, obstetric characteristics, lifestyle, eating habits, variables required for the diagnosis of constipation, and laxative use to evaluate the prevalence of constipation during pregnancy and puerperium. The questionnaire was administered in the obstetric clinic in the first trimester of pregnancy, and by telephone in the second and third trimesters, and in the puerperal period. The prevalence of self-reported constipation in these time periods was 45.4, 37.1, 39.4, and 41.8%, respectively. Prevalence defined by the Rome II criteria for the same time periods was 29.6, 19, 21.8, and 24.7%. These values were similar to the data previously reported for the female population. Agreement between the self-reported and Rome II results was moderate. The self-reported criterion showed high sensitivity in all time periods, using the Rome II criterion as gold-standard. No factor was associated with variations in the prevalence of constipation during pregnancy, though an increase was recorded in the consumption of fruit, vegetables, fiber, and water. The prevalence of constipation during pregnancy and puerperium is similar to that recorded among the female population from the same geographic area.