Consensus paper on postural dysfunction: recommendations for prevention, diagnosis and therapy.

Good fundamentals of posture and balance are essential for the efficient performance of both simple daily tasks and more complex movement patterns. In particular, postural balance is the ability to keep the body in equilibrium and to regain balance after the shift of body segments: postural control mechanisms of integration of the visual, vestibular and foot afferential channels contribute to this. This document provides recommendations based on scientific evidence, clinical practice, and consensus between experts concerning the prevention, diagnosis, and treatment of postural dysfunction at the three stages of life as the developmental age, adult age, and old age > 65 years and follows the "National Guidelines on Classification and Measuring of Posture and its Dysfunctions" per the Italian Ministry of Health (December 2017). The paper answers four main questions: i) "Which measures can be adopted to prevent postural dysfunctions?" ii) "What can we do in order to make a correct diagnosis of postural dysfunction?" iii) "What are the correct treatment programs for postural dysfunctions?" iv) Which professional competencies and experiences are useful for preventing, diagnosing and treating postural dysfunctions? By the Consensus of the Experts and the scientific evidence, emerge that the approach to postural dysfunctions requires a multidisciplinary and interdisciplinary team. Furthermore, rehabilitation treatment interventions must be specific to the age groups that have been indicated, to consider the integration of the main systems and subsystems of postural control that change with age.

Kidney transplantation for end-stage renal disease in lupus nephritis, a very safe procedure: a single Latin American transplant center experience.

Background Lupus nephritis (LN) is one of the most frequent complications of SLE and occurs in up to 50% of cases depending on the studied population. Of these, approximately 20% progress to end-stage renal disease (ESRD), with the treatment of choice being a kidney transplant. Objective The objective of this study was to describe the clinical outcome of patients transplanted due to LN, compared with patients transplanted for other causes, in a Latin American population from the Fundación Valle del Lili in Cali, Colombia. Methods Observational, retrospective case study with controls matched by age, sex and type of donor in a single center between 1996 and 2014. Results Sixty-five kidney transplants were performed in patients with LN and ESRD. The survival of patients with LN was 98% at 1, 10 and 15 years ( p = .99). For controls by age and sex, survival was also 98% at 15 years post-transplant, and for controls by donor, the survival rate was 100% at 5 years and 98% at 15 years. Graft survival in patients with LN to 1, 5 and 15 years was 92%, 83% and 71%, respectively; for controls by age and sex, it was 90%, 84% and 64%, respectively, and for the controls by donor, it was 89%, 86% and 79%, respectively ( p = .7718). There were no statistically significant differences found in the cumulative incidence of acute graft rejection in the first year, but it was found that acute rejection is a factor that relates to the loss of function of the renal graft ( p = .032). Of the patients transplanted for LN, two (3.1%) experienced a recurrence of the disease. One patient died after a diagnosis of recurrence of LN due to an infection. Conclusions Kidney transplantation is a good option for patients with ESRD due to LN. In this Hispanic population, the survival of patients, graft survival, and cumulative incidence of graft rejection are not different from those of other transplanted patients. In addition, recurrence of LN was rare, showing the benefits of renal transplantation in LN patients with ESRD.

Evaluation of aldosterone to direct renin ratio, low renin and related Phenotypes in Afro-Colombian patients with apparent treatment resistant hypertension.

Apparent resistant hypertension (aTRH) is a significant public health issue. Once low adherence to antihypertensive treatment has been ruled out and true resistant hypertension is diagnosed, aldosterone-direct-renin-ratio (ADRR) aids in the screening of an aldosterone-producing adenoma (APA) and primary aldosteronism (PA). Once PA and other secondary causes have been ruled out, the values of aldosterone and renin allow patients to be classified into phenotypes such as low renin hypertension (LRH), Liddle's-like (LLph), and primary hyperaldosteronism (PAph). These classifications could aid in the treatment decision-making process. However, optimal cut-off points for these classifications remain uncertain. This study aims to assess the prevalence of these phenotypes and the behavior of different cut-offs of the ADRR in an Afro-Colombian population with apparent resistant hypertension, as well to describe their sodium consumption. Afro-descendant individuals 18 years of age or older, diagnosed with resistant hypertension and attending to a primary care center in Colombia were recruited as volunteers. As part of the study, their plasma renin concentration (PRC) and plasma aldosterone concentration (PAC) were measured. The phenotypes were categorized into three groups based on multiple cut-off points from different authors: low renin and low aldosterone phenotype (LLph), low renin and high aldosterone phenotype (PAph), and high renin and high aldosterone phenotype, referred to as the renal phenotype (Rph). The prevalence of ADRR values exceeding the cut-off and phenotypes were calculated. A linear regression model was derived to assess the effect of sodium consumption with PAC, PRC and ADRR. A total of 88 patients with aTRH were included. Adherence to at least 3 antihypertensive medications was 62.5%. The median age was 56 years (IQR 48-60), 44% were female, and 20% had diabetes. The study found that the prevalence of ADRR values exceeding the cut-off ranged from 4.5 to 23%, while low-renin hypertension (LRH) varied from 15 to 74%, Rph was found in approximately 30 to 34% of patients, PAph in 30 to 51%, and the LLph in 15 to 41%, respectively, depending on the specific cut-off value by different authors. Notably, sodium consumption was associated with lower aldosterone (ß - 0.15, 95% CI [- 0.27, - 0.03]) and renin concentrations (ß - 0.75, 95% CI [- 1.5, - 0.02]), but ADRR showed no significant association with sodium consumption. There were no significant differences in prevalences between the groups taking < 3 vs ≥ 3 antihypertensive medications. Altered aldosterone-direct-renin-ratio, low renin hypertension, Liddle's-like, and primary hyperaldosteronism are prevalent phenotypes in patients within Afro-Colombian patients with apparent treatment-Resistant hypertension.

Expandable tumor prostheses in children.

Any surgical resection in the lower extremities in children will cause a leg length discrepancy from physeal resection. To avoid the resulting functional deficit, leg length discrepancy must be reconciled with surgical techniques to approximate equal leg lengths at skeletal maturity. Currently there are several manufacturers who offer options for prosthetic reconstruction with expandable implants. These implants can be expanded to a length projected on the basis of three factors: the length of bone resected, the anticipated future growth of the contralateral extremity, and the estimated discrepancy of limb length at skeletal maturity. In this article, we review the basic principles and guidelines for prediction of remaining bone growth and planning lengthening in children, and present the currently available expandable prostheses and the evolution performed over time.

Supported Diagnosis of Attention Deficit and Hyperactivity Disorder from EEG Based on Interpretable Kernels for Hidden Markov Models.

As a neurodevelopmental pathology, Attention Deficit Hyperactivity Disorder (ADHD) mainly arises during childhood. Persistent patterns of generalized inattention, impulsivity, or hyperactivity characterize ADHD that may persist into adulthood. The conventional diagnosis relies on clinical observational processes yielding high rates of overdiagnosis due to varying interpretations among specialists or missing information. Although several studies have designed objective behavioral features to overcome such an issue, they lack significance. Despite electroencephalography (EEG) analyses extracting alternative biomarkers using signal processing techniques, the nonlinearity and nonstationarity of EEG signals restrain performance and generalization of hand-crafted features. This work proposes a methodology to support ADHD diagnosis by characterizing EEG signals from hidden Markov models (HMM), classifying subjects based on similarity measures for probability functions, and spatially interpreting the results using graphic embeddings of stochastic dynamic models. The methodology learns a single HMM for EEG signal from each patient, so favoring the inter-subject variability. Then, the Probability Product Kernel, specifically developed for assessing the similarity between HMMs, fed a support vector machine that classifies subjects according to their stochastic dynamics. Lastly, the kernel variant of Principal Component Analysis provided a means to visualize the EEG transitions in a two-dimensional space, evidencing dynamic differences between ADHD and Healthy Control children. From the electrophysiological perspective, we recorded EEG under the Stop Signal Task modified with reward levels, which considers cognitive features of interest as insufficient motivational circuits recruitment. The methodology compares the supported diagnosis in two EEG channel setups (whole channel set and channels of interest in frontocentral area) and four frequency bands (Theta, Alpha, Beta rhythms, and a wideband). Results evidence an accuracy rate of 97.0% in the Beta band and in the channels where previous works found error-related negativity events. Such accuracy rate strongly supports the dual pathway hypothesis and motivational deficit concerning the pathophysiology of ADHD. It also demonstrates the utility of joining inhibitory and motivational paradigms with dynamic EEG analysis into a noninvasive and affordable diagnostic tool for ADHD patients.

Criteria and outcome of limb salvage surgery.

When sufficient margins of resection surrounding the tumor can be achieved, limb salvage surgery, as opposed to amputation, has become the standard of care in treating patients with bone and soft tissue sarcoma of the extremities. Currently, 90-95% of patients with primary malignant bone and soft-tissue tumors involving the extremities can be treated safely with wide resection and limb salvage surgery with a low risk of recurrence and the same disease-free survival rate as amputative surgery. However, discussions persist regarding the indications and criteria, and whether limb salvage provides superior functional results and quality of life for cancer patients. In this study we aimed to review and update the current criteria, indications and contraindications of limb salvage surgery and discuss its role in the quality of life of cancer patients.

Creation Of The «Soludable¼ Sun Protection Accreditation Program For Schools. / Creación del distintivo Soludable: un modelo de certificación en fotoprotección para centros escolares.

INTRODUCTION: Sun exposure during childhood is the main risk factor for skin cancer in later life. School-based sun protection policies and practices have proven to be the most effective and cost-effective strategies for preventing skin cancer. OBJECTIVE: To develop a sun protection accreditation program known as «Soludable¼ (a play on the Spanish words sol [sun] and saludable [healthy]) to objectively identify schools that actively promote sun protection behaviors among students. METHODS: The consensus method used was a 2-round Delphi technique with input from a panel of experts. We then calculated the median scores for the importance and feasibility of each of the recommendations proposed and the level of complexity assigned to each recommendation by counting the percentage of experts who chose each difficulty category. RESULTS: The resulting accreditation model consists of 14 recommendations with corresponding evaluation criteria divided into 7 domains: 1) organizational leadership (5 recommendations), 2) effective communication (2 recommendations), 3) structural elements (2 recommendations), 4) training of professionals (1 recommendation), 5) school curriculum (1 recommendation), 6) behavioral models (2 recommendations), and 7) student habits (1 recommendation). A high level of agreement among experts was observed for all recommendations, in terms of both their perceived importance and feasibility and their categorization by levels of complexity. CONCLUSIONS: This is the first sun protection accreditation program developed for Spanish schools. Studies are needed to evaluate how this program is received and how it affects students' sun protection behaviors.

[Use of the radiological exploration in a medical specialities department]. / Utilización de estudios de diagnóstico radiológico en una unidad de especialidades médicas.

BACKGROUND AND OBJECTIVES: To analyse the use of the radiological examinations and the adequacy of every request to the guidelines of indication of radiological investigations. PATIENTS AND METHODS: A prospective survey that includes the explorations carried out in 202 patients hospitalised between January and April of 2006. The demographic data, the diagnosis, the radiological exams, the clinical aim of the requests and the requesting department were analysed. The appropriateness was assessed according to the international criteria of adequacy by two experienced physicians. RESULTS: Twenty-seven percent out of the requests of radiological investigations was no adapted to the reference criteria. The requesting department, the type of radiographies and the diagnostic aim of the radiological studies were associated with an appropriate indication (p < 0.0001). Among the radiographies with diagnostic aim, the detection of radiological alterations was associated with a suitable indication of the request (p < 0.0001). CONCLUSION: The appropriate use of the radiological explorations was similar to other published reports. The inadequate indication seems to be associated with the use of simple radiographic explorations, with follow-up studies and with the requests from Intensive Care Unit.

Muerte Súbita en Epilepsia (SUDEP): Encuesta a familiares de pacientes con epilepsia y a profesionales de la salud / Sudden unexpected death in epilepsy (SUDEP): Epilepsy Family and Survey health professionals

Sudden unexpected death in epilepsy (SUDEP), definida como la muerte brusca, inesperada, con o sin testigos, no traumática ni por ahogo, que ocurre en circunstancias benignas, en un individuo con epilepsia, con o sin evidencias de crisis, pero sin estado epiléptico. En general, afecta sobre todo a pacientes con epilepsia refractaria. La incidencia es de 4-7/1000 pacientes al año. En nuestra región, no contamos con muchos datos epidemiológicos de SUDEP, lo cual es un desafío a investigar, ya que sabemos que el 85% de los pacientes con epilepsia viven en países en desarrollo. Es muy importante que los pacientes y/o familiares conozcan sobre SUDEP, ya que ayuda a lograr mejor lo objetivos de tratamiento, promueve mejor el reporte médico-paciente, disminuye ansiedad, filtra la información inadecuada y creencias inapropiadas. Pero es necesario preguntarles a ellos, cuanto saben de SUDEP, cómo, que y cuando recibir esta información. Existen países y culturas donde está vedado hablar de SUDEP. Tampoco conocemos cómo los médicos manejamos el tema, cuando decirlo, que contar y cómo hacerlo. Por otro lado, hay controversias entre los epileptólogos, en qué momento tratar la temática. Por este motivo, se realiza una encuesta a pacientes con epilepsia y/o familiares, además de especialistas médicos. El objetivo es evaluar si los colegas especialistas están hablando del tema y por otro lado constatar los conocimientos de SUDEP en los pacientes y/o familiares. Los resultados de la encuesta, arrojan que la mayoría de los médicos no habla del tema y la mayor parte de los familiares de pacientes con epilepsia desea conocer la temática al inicio de la enfermedad, contada por el médico. Gran número de ellos se ha informado por redes sociales y creen que es prevenible.

Sudden unexpected death in epilepsy (SUDEP), is defined as sudden, unexpected death, with or without witnesses, neither traumatic nor by choking, occurring in benign circumstances in an individual with epilepsy, with or without evidence of crisis, but without epileptic status. In general, it mainly affects patients with refractory epilepsy. The incidence is 4-7/1000 patients per year. In our region, we do not have much epidemiological data about SUDEP, which is a challenge to investigate, as we know that 85% of epilepsy patients live in developing countries. It is important to ask patients and/or family members how much do they know about SUDEP and how as well as when to receive this information. It is important that parents and/or family members know about SUDEP, as it helps to better achieve treat ment goals, better promotes doctor-patient reporting, decreases anxiety, filters inadequate information and inappropriate beliefs. There are countries and cultures where it is forbidden to talk about SUDEP. We also do not know how doctors handle the subject, when to talk about it, what to tell and how to do it. On the other hand, there are controversies among epileptologists at which point to deal with this subject. For this reason, a survey is conducted on parents of children with epilepsy and/or family members, as well as medical specialists. The objective is to be able to evaluate how specialist colleagues are talking about the topic and on the other hand evaluate some parameters of SUDEP in parents and/or family members. Most doctors do not talk about it and most relatives of epilepsy patients want to know the topic of the onset of the disease form their doctor. Large numbers of them have gathered information on SUDEP through social networks and believe it is preventable.

Intervenciones psicológicas en cuidadores primarios de pacientes con trasplante de células hematopoyéticas: Revisión descriptiva / Psychological interventions on primary care healthcare providers of patients with hematopoietic cells transplantation: Descriptive revision / Intervenções psicológicas em cuidadores primários de pacientes com transplante de células hematopoiéticas: Revisão descritiva

Resumen Introducción: El ser cuidador primario informal de un paciente con indicación médica de trasplante de células progenitoras hematopoyéticas puede tener consecuencias negativas en su salud mental y calidad de vida. Objetivo: Describir las intervenciones psicológicas disponibles para el cuidador primario de pacientes sometidos a trasplante de células hematopoyéticas. Metodología: Se realizó una búsqueda sistematizada de los últimos 10 años con los términos MeSH: psychotherapy AND caregive AND stem cell transplantation en las principales bases de datos médicas y de psicología, para su análisis se empleó la estrategia: Problema, Intervención, Comparación y Outcomes (PICO). Resultados: Se identificaron 122 artículos, de ellos diez cumplieron los criterios de inclusión. Las intervenciones provenían de profesionales de enfermería o trabajo social; el 50% incluyó diadas (paciente y cuidador primario), mostraron una tendencia de duración corta, enfocada al periodo posterior al trasplante. Se basan en el entrenamiento en solución de problemas, manejo de estrés, atención plena y expresión emocional. Las intervenciones lograron la disminución de la depresión, ansiedad y estrés en el cuidador; pero no alcanzaron permanencia en la significancia estadística de dichos restablecimientos. Discusión: De acuerdo con lo observado en las publicaciones y por su impacto positivo en la salud mental, se recomienda la implementación de intervenciones psicológicas en cuidadores de pacientes con trasplante de células progenitoras hematopoyéticas. Conclusión: El apoyo psicológico brindado al cuidador generalmente es de profesionales de la salud que no pertenecen al área de la psicología, con resultados clínicos favorables en las etapas más críticas de su estado mental.

Abstract Introduction: Being an informal primary healthcare provider of a patient who undergoes hematopoietic progeny cells transplantation can have adverse consequences on mental health and the quality of life. Objective: To describe the available psychological interventions for the primary healthcare provider of patients undergoing hematopoietic cells transplantations. Methodology: A systematized search of the last 10 years using the MeSH terms psychotherapy AND caregiver AND stem cell transplantation was conducted on the main medical and psychological databases. The analysis strategy followed the PICO scheme (Problem, Intervention, Comparison, Outcomes). Results: 122 articles were identified, and 10 of them fulfilled the inclusion criteria. The interventions were related to nursing or social work professionals. 50% described patient-healthcare provider dyads with short interventions focused on the post-transplantation period. Discussion: According to what has been observed in the publications and due to its positive impact on mental health, the implementation of psychological interventions is recommended in caregivers of patients who underwent hematopoietic stem cell transplantation. Conclusion: The psychological support provided to the caregiver comes mainly from health professionals who do not belong to the area of psychology, with favorable clinical results in the most critical periods for their mental state.

Resumo Introdução: Ser cuidador primário informal de um paciente sometido a transplante de células progenitoras hematopoiéticas pode ter consequências negativas na saúde mental e na qualidade de vida. Objetivo: Descrever as intervenções psicológicas disponíveis para o cuidador primário de pacientes sometidos a transplante de células hematopoiéticas. Metodologia: Realizou-se uma busca sistematizada dos últimos 10 anos com os termos MeSH: psychotherapy AND caregive AND stem cell transplantation nas principais bases de dados médicas e de psicologia, para sua análise realizou-se a estratégia: Problema, Intervenção, Comparação e Outcomes (PICO). Resultados: Identificaram-se 122 artigos, dos quais, dez cumpriram os critérios de inclusão. As intervenções provinham de profissionais em enfermagem ou trabalho social; o 50% incluiu díades (paciente e cuidador primário), mostraram uma tendência de duração curta, focalizada no período posterior ao transplante. Baseiam-se no treinamento em solução de problemas, manejo de estresse, atenção plena e expressão emocional. As intervenções conseguiram melhoras clínicas na diminuição da depressão, ansiedade e estresse no cuidador; mas não alcançaram permanência na significância estatística destes restabelecimentos. Discussão: Conforme o observado nas publicações e por seu impacto positivo na saúde mental, recomenda-se a implementação de intervenções psicológicas em cuidadores de pacientes para quem se indicou transplante de células progenitoras hematopoiéticas. Conclusão: O apoio psicológico oferecido ao cuidador vem de principalmente profissionais da saúde que não pertencem à área da psicologia, com resultados clínicos favoráveis nos períodos mais críticos para seu estado mental.

Steroids in Duchenne muscular dystrophy--deflazacort trial.

We conducted a double blind controlled trial in 28 Duchenne muscular dystrophy (DMD) patients with Deflazacort (DF), an oxazoline derivative of prednisolone which reduces its side-effects. Myometric muscle strength measurements, Scott Score and timed tests showed statistically significant improvement for the treated group (P less than 0.05). Side-effects after 9 months of treatment included mild cushingoid appearance in four patients (28%) and moderate in only one (7%), increased appetite in seven (50%), increased body hair in four (28%), irritability and hyperactivity in three (21%). Increased body weight was not prominent and was controlled with dietary measures. No patient had to be withdrawn from medication. More research and long-term follow-up are needed in order to establish the mechanism of improvement and the consequences of long-term steroid administration in DMD. In this regard DF appears as an alternative to prednisone preserving its benefits but with fewer side-effects.

Interpretation of heavy metal data from mussel by use of multivariate classification techniques.

Different strategies of multivariate analysis of metals concentrations (Mn, Fe, Ni, V, Co, Cu, Cd, Hg, Pb, Na, K) in mussel samples from different spanish markets are used to interpret a data base and identify differences between species and origin of the samples. Principal Component Analysis and Potential curves are applied to properly classify unknown samples from representative mussels samples (Mytilus edulis and Perna canaliculus). Also, Principal Components Analysis is used as display method to visualize the relation between the variables and objects of interest.

[Gum-like exudate from Laguncularia racemosa (white mangrove) as culture media for fungi]. / Exudado gomoso de Laguncularia racemosa (mangle blanco) como medio de cultivo para hongos.

Morphological studies of eight species of fungus: Aspergillus flavus Microsporum canis, Epidermophyton floccosum, Curvularia lunata, Cladosporium carrionii, Natrassia mangífera (Edo. Scytalidium), Sporotrix schenckii y Rhizophus oligosporus, which belong to families Mucedinaceae, Dematiaceae and Mucoraceae have been carried out in support medium based in gum exudate from Laguncularia racemosa (mangle blanco). This native polimer contains galactose, arabinose, rhamnose, uronic acid and proteins. Nitrogen calcium and magnesium are microconstituents of the gum. An economical substrate which contained gum exudate (4%) and agar (1.5%) was used in these studies. The results obtained showed that gum exudate-agar medium (EGA) permits an adequate identification of the studied species, therefore, it is a possible substitute for Sabouraud. It is important to know that the gum exudate is a natural product, economical and easy to obtain.

Cognition and behavorial morbidity associated with sleep disordered breathing in children / Alteraciones cognitivas y conductuales en los trastornos respiratorios del sueño (TRS) en niños

Sleeep disorder breathing (SDB) in chilhood includes a broad spectrum of disease ranging from primary snoring to more severe forms of obstructive sleep apnea syndrome. They may be associated with alterations different than those seen in adults, e.g., children present a low percentage of daytime sleepiness. Nevertheless, they present great difficulties in their learning, and failure in memory and attention and reports of behavior of aggressiveness. We analyze in the present review the cognitive and behavioral deficits asscoaited with the RDS and the main tests that are made for its study

Los trastornos respíratorios del sueño (TRS) en la infancia incluyen un amplio espectro que comprende desde el ronquido primario hasta las formas más graves de síndrome de apnea obstructiva del sueño (SAOS). Los niños presentan sintomatología asociada distinta a los adultos, como un bajo porcentaje de sonmolencia diurna. No obstante refieren dificultades en su aprendizaje, fallas en memoria, atención y cambios en su hiperactividad y agresividad. Se analizan los déficit cognitivos y conductuales asociados a los TRSy las principales pruebas neuropsicológicas o test que se realizan para su estudio

Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.

OBJECTIVE: To determine whether pentoxifylline (PTX) slows the decline of muscle strength and function in ambulatory boys with Duchenne muscular dystrophy (DMD). METHODS: This was a multicenter, randomized, double-blinded, controlled trial comparing 12 months of daily treatment with PTX or placebo in corticosteroid-treated boys with DMD using a slow-release PTX formulation (~20 mg/kg/day). The primary outcome was the change in mean total quantitative muscle testing (QMT) score. Secondary outcomes included changes in QMT subscales, manual muscle strength, pulmonary function, and timed function tests. Outcomes were compared using Student t tests and a linear mixed-effects model. Adverse events (AEs) were compared using the Fisher exact test. RESULTS: A total of 64 boys with DMD with a mean age of 9.9 ± 2.9 years were randomly assigned to PTX or placebo in 11 participating Cooperative International Neuromuscular Research Group centers. There was no significant difference between PTX and the placebo group in total QMT scores (p = 0.14) or in most of the secondary outcomes after a 12-month treatment. The use of PTX was associated with mild to moderate gastrointestinal or hematologic AEs. CONCLUSION: The addition of PTX to corticosteroid-treated boys with DMD at a moderate to late ambulatory stage of disease did not improve or halt the deterioration of muscle strength and function over a 12-month study period. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that treatment with PTX does not prevent deterioration in muscle function or strength in corticosteroid-treated boys with DMD.

Cost-effectiveness analysis of the early conversion of tacrolimus to mammalian target of rapamycin inhibitors in patients with renal transplantation.

BACKGROUND: Renal replacement therapies which consist of renal transplantation and dialysis are the only treatment options for patients with terminal renal failure. These therapies have changed the outcome from being fatal to being a chronic disease. Kidney transplantation involves the use of immunosuppressive agents to prevent rejection. Currently, several immunosuppressive agents have shown efficacy, safety, and different costs. OBJECTIVE: The aim was to evaluate the cost-effectiveness of early conversion from tacrolimus to mammalian target of rapamycin inhibitors sirolimus or everolimus versus continuous treatment with tacrolimus among renal transplantat patients in Colombia. METHODS: We performed systematic literature review to extract data for clinical effectiveness and safety of tacrolimus replacement schemes for immunosuppressive therapy in renal transplantation in adults. A Markov model in TreeAge was developed, simulating the patient's natural history with renal transplantation. The perspective of the Colombian Health System was used, including only direct costs. The cost-effectiveness ratio and incremental cost-effectiveness ratio were estimated. Deterministic and probabilistic sensitivity analyses were performed. A 5% discount rate was applied in costs and health results. RESULTS: Results for the replacement of tacrolimus to sirolimus are provided. The cost per year of additional life gained for sirolimus was Col$2,441,171.43; the cost for avoided loss was Col$4,014,152.84. The acceptability curve shows that a strategy with sirolimus is the most cost-effective one. CONCLUSIONS: This study suggested that the sirolimus strategy is cost-effective in Colombia for patients with renal transplantation using as threshold less than three times the gross domestic product (GDP) per capita of Colombia per life of years gained.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, substantia innominata, brain stem, and myenteric plexus, as well as liver involvement. Glycogen branching enzyme activity in muscle was virtually undetectable. Sequencing of the GBE1 gene revealed a homozygous 28 base pair deletion and a single base insertion at the same site in exon 5. This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the 'molecular severity' of the mutation.