Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.Peloton Advantage, LLC - Alexion Pharmaceuticals, Inc.Univ Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, BrazilWeb of Scienc

Predictors of In-Hospital Mortality Among Older Patients

OBJECTIVE: The objective of this study was to determine predictors of in-hospital mortality among older patients admitted to a geriatric care unit. INTRODUCTION: The growing number of older individuals among hospitalized patients demands a thorough investigation of the factors that contribute to their mortality. METHODS: This was a prospective observational study implemented from February 2004 to October 2007 in a tertiary university hospital. A consecutive sample of 922 patients was evaluated for possible inclusion in this study. Patients hospitalized for palliative care, those who declined to participate, and those with incomplete data were excluded, resulting in a group of 856 patients aged 60 to 104 years. Bivariate and multivariate analyses were performed to determine associations between in-patient mortality and gender, age, length of stay, number of prescribed medications and diagnoses at admission, history of heart failure, neoplastic disease, immobility syndrome, delirium, infectious disease, and laboratory tests at admission (serum albumin and creatinine). RESULTS: The overall mortality rate was 16.4%. The following factors were associated with higher in-hospital mortality: delirium (OR=4.13, CI=2.65-6.44, P<.001), neoplastic disease (OR=3.38, CI=2.11-5.42, P<.001), serum albumin levels at admission <3.3mg/ dL (OR=3.23, CI=2.03-5.13, P<.001), serum creatinine levels at admission >1.3mg/dL (OR=2.39, CI=1.53-3.72, P<.001), history of heart failure (OR=1.97, CI=1.20-3.22, P=.007), immobility (OR=1.84, CI=1.16-2.92, P =.009), and advanced age (OR=1.03, CI=1.01-1.06, P=.019). CONCLUSIONS: This study strengthens the perception of delirium as a mortality predictor among older inpatients. Cancer, immobility, low albumin levels, elevated creatinine levels, history of heart failure and advanced age were also related to higher mortality rates in this population

A liga de meditação e saúde na educação, prevenção e terapêutica de profissionais de saúde e pacientes

The present work aims to report the experiences associated with the League of Meditation and Health (LIMEDS), at the Faculty of Medicine of USP, from its foundation in March 2018, to the present moment. As an Academic League, the project plays a fundamental role in the areas of teaching, research and extension, advancing in the sense of contributing to professional training in the field of health and, through its theoretical and practical activities and assistance, to act in the prevention and therapeutics of patients and health professionals. In response to the expansion of meditative practices in Brazil and in the world, including its valorization in scientific circles, LIMEDS is committed to combating and preventing psychosomatic disorders, in the development of peace, compassion and empathy, as well as in the reorientation of professional practices that benefit the public health. Student testimonials reveal great satisfaction with the experiences and positive changes in their physical and mental health.O presente trabalho visa relatar as experiências associadas à Liga de Meditação e Saúde (LIMEDS), na Faculdade de Medicina da USP, desde sua fundação, em março de 2018, até o presente momento. Como Liga Acadêmica, o projeto exerce papel fundamental nas esferas de ensino, pesquisa e extensão, avançando no sentido de contribuir para a formação profissional no campo da saúde e, por meio de suas atividades teórico-práticas e assistenciais, atuar na prevenção e terapêutica de pacientes e profissionais de saúde. Em resposta à expansão das práticas meditativas no Brasil e no mundo, incluindo sua valorização em meios científicos, a LIMEDS assume o compromisso no combate e prevenção aos distúrbios psicossomáticos, no desenvolvimento da paz, compaixão e empatia, bem como na reorientação de práticas profissionais que beneficiem a saúde pública. Depoimentos de alunos revelam grande satisfação com as experiências e mudanças positivas em sua saúde física e mental

Medical adverse events in elderly hospitalized patients: a prospective study

OBJECTIVES: To determine the frequency of medical adverse events in elderly patients admitted to an acute care geriatric unit, the predictive factors of occurrence, and the correlation between adverse events and hospital mortality rates. METHODS: This prospective study included 171 admissions of patients aged 60 years and older in the acute care geriatric unit in a teaching hospital in Brazil between 2007 and 2008. The following variables were assessed at admission: the patient age, gender, number of prescription drugs, geriatric syndromes (e.g., immobility, postural instability, dementia, depression, delirium, and incontinence), comorbidities, functional status (evaluated with the Katz Index of Independence in Activities of Daily Living), and severity of illness (evaluated with the Simplified Acute Physiology Score Il). The incidence of delirium, infection, mortality, and the prescription of potentially inappropriate medications (based on the Beers criteria) were assessed during hospitalization. An observer who was uninvolved in patient care reported the adverse events. RESULTS: The mean age of the sample was 78.12 years. A total of 187 medical adverse events occurred in 94 admissions (55%). The predictors of medical adverse events were undetermined. Compared with the patients with no adverse events, the patients with medical adverse events had a significantly longer hospital stay (21.41 ± 15.08 days versus 10.91 ± 7.21 days) and a higher mortality rate (39 deaths [41.5%] versus 17 deaths [22.1%]). Mortality was significantly predicted by the Simplified Acute Physiology Score II score (odds ratio [OR] = 1.13, confidence interval [CI] 95%, 1.07 to 1.20), the Katz score (OR=1.47, CI 95%, 1.18 to 1.83), and medical adverse events (OR = 3.59, CI 95%, 1.55 to 8.30). CONCLUSION: Medical adverse events should be monitored in every elderly hospitalized patient because there is no risk profile for susceptible patients, and the consequences of adverse events are serious, sometimes leading to longer hospital stays or even death

Delirium in Hospitalized Elderly Patients and Post-Discharge Mortality

OBJECTIVE: To determine the impact of delirium on post-discharge mortality in hospitalized older patients. INTRODUCTION: Delirium is frequent in hospitalized older patients and correlates with high hospital mortality. There are only a few studies about its impact on post-discharge mortality. METHODS: This is a prospective study of patients over 60 years old who were hospitalized in the Geriatric Unit at Hospital das Clínicas of São Paulo between May 2006 and March 2007. Upon admission, demographics, comorbidities, number of drugs taken, and serum albumin concentration were evaluated for each patient. Delirium was diagnosed according to the DSM-IV criteria. Patients were divided into group A (with delirium) and group B (without delirium). One year after discharge, the patients or their caregivers were contacted to assess days of survival. RESULTS: The sample included 199 patients, 66 (33%) of whom developed delirium (Group A). After one year, 33 (50%) group A patients had died, and 45 (33.8%) group B patients had died (p = 0.03). There was a significant statistical difference in average age (p = 0.001) and immobility (p <0.001) between groups A and B. There were no statistically significant differences between groups A and B in number of drugs taken greater than four (p = 0.62), sex (p = 0.54) and number of diagnoses greater than four (p = 0.21). According to a multivariate analysis, delirium was not an independent predictor of post-discharge mortality. The predictors of post-discharge mortality were age > 80 years (p = 0.029), albumin concentration < 3.5 g/dl (p = 0.001) and immobility (p = 0.007). CONCLUSION: Delirium is associated with higher post-discharge mortality as a dependent predictor

Doença de Menkes: relato de caso com comprometimento da substância branca cerebral

Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.A doença de Menkes é patologia ligada ao X relacionada a defeito no metabolismo de cobre. De acordo com literatura atual, os achados mais frequentes em exames de neuroimagem são atrofia cortical, efusão de subdural crônica ou higroma, e alterações vasculares. Lesões em substância branca podem estar presentes antes das alterações clinicas da doença e podem evoluir para atrofia. Apresentamos relato de caso da doença de Menkes com história e evolução típica, descrevendo os achados de neuroimagem na fase inicial da doença que revelaram sinais importantes de comprometimento da substância branca que poderiam conduzir a dúvidas diagnósticas.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Setor de Neurologia InfantilUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Setor de Doenças Metabólicas HereditáriasUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de Diagnóstico por ImagemUNIFESP, EPM, Setor de Neurologia InfantilUNIFESP, EPM, Setor de Doenças Metabólicas HereditáriasUNIFESP, EPM, Depto. de Diagnóstico por ImagemSciEL

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Background: Mucopolysaccharidosis type&nbsp;II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease. Results: The authors evaluated&nbsp;17&nbsp;patients from the same family with a mild form of MPS type&nbsp;II; the proband had developed acute decompensated heart failure refractory to clinical measurements at&nbsp;23&nbsp;years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure. Nevertheless, subsequent to his tragic death, 16&nbsp;affected male relatives were detected after biochemical tests identifying the low or absent activity of the IDS enzyme and confirmed by molecular analysis of the IDS gene. Following diagnosis, different options of treatment were chosen: 6&nbsp;patients started ERT with Elaprase® (Idursulfase) soon after, while the other&nbsp;10&nbsp;remained without ERT. Eventually, 4&nbsp;patients in the latter group began ERT with Hunterase® (Idursulfase Beta). None presented adverse effects to either form of the enzyme. Among the&nbsp;6&nbsp;individuals without any ERT, two died of natural causes, after reaching&nbsp;70&nbsp;years. Despite the variable phenotype within the same family (mainly heart dysfunctions and carpal tunnel syndrome), all&nbsp;14&nbsp;remaining patients were alive with an independent lifestyle. Conclusion: Here, the authors report the variable progress of the disease with and without ERT in a large Brazilian family with a slowly progressive form of MPS II, harboring the same missense variant in the IDS gene

Medical adverse events in elderly hospitalized patients: A prospective study

OBJECTIVES: To determine the frequency of medical adverse events in elderly patients admitted to an acute care geriatric unit, the predictive factors of occurrence, and the correlation between adverse events and hospital mortality rates. METHODS: This prospective study included 171 admissions of patients aged 60 years and older in the acute care geriatric unit in a teaching hospital in Brazil between 2007 and 2008. The following variables were assessed at admission: the patient age, gender, number of prescription drugs, geriatric syndromes (e. g., immobility, postural instability, dementia, depression, delirium, and incontinence), comorbidities, functional status (evaluated with the Katz Index of Independence in Activities of Daily Living), and severity of illness (evaluated with the Simplified Acute Physiology Score II). The incidence of delirium, infection, mortality, and the prescription of potentially inappropriate medications (based on the Beers criteria) were assessed during hospitalization. An observer who was uninvolved in patient care reported the adverse events. RESULTS: The mean age of the sample was 78.12 years. A total of 187 medical adverse events occurred in 94 admissions (55%). The predictors of medical adverse events were undetermined. Compared with the patients with no adverse events, the patients with medical adverse events had a significantly longer hospital stay (21.41 +/- 15.08 days versus 10.91 +/- 7.21 days) and a higher mortality rate (39 deaths [41.5%] versus 17 deaths [22.1%]). Mortality was significantly predicted by the Simplified Acute Physiology Score II score (odds ratio [OR] = 1.13, confidence interval [CI] 95%, 1.07 to 1.20), the Katz score (OR = 1.47, CI 95%, 1.18 to 1.83), and medical adverse events (OR = 3.59, CI 95%, 1.55 to 8.30). CONCLUSION: Medical adverse events should be monitored in every elderly hospitalized patient because there is no risk profile for susceptible patients, and the consequences of adverse events are serious, sometimes leading to longer hospital stays or even death

Comprehensive geriatric assessment predicts mortality and adverse outcomes in hospitalized older adults

Abstract\ud \ud Background\ud Comprehensive Geriatric Assessment (CGA) provides detailed information on clinical, functional and cognitive aspects of older patients and is especially useful for assessing frail individuals. Although a large proportion of hospitalized older adults demonstrate a high level of complexity, CGA was not developed specifically for this setting. Our aim was to evaluate the application of a CGA model for the clinical characterization and prognostic prediction of hospitalized older adults.\ud \ud \ud Methods\ud This was a prospective observational study including 746 patients aged 60 years and over who were admitted to a geriatric ward of a university hospital between January 2009 and December 2011, in Sao Paulo, Brazil. The proposed CGA was applied to evaluate all patients at admission. The primary outcome was in-hospital death, and the secondary outcomes were delirium, nosocomial infections, functional decline and length of stay. Multivariate binary logistic regression was performed to assess independent factors associated with these outcomes, including socio-demographic, clinical, functional, cognitive, and laboratory variables. Impairment in ten CGA components was particularly investigated: polypharmacy, activities of daily living (ADL) dependency, instrumental activities of daily living (IADL) dependency, depression, dementia, delirium, urinary incontinence, falls, malnutrition, and poor social support.\ud \ud \ud Results\ud The studied patients were mostly women (67.4%), and the mean age was 80.5±7.9 years. Multivariate logistic regression analysis revealed the following independent factors associated with in-hospital death: IADL dependency (OR=4.02; CI=1.52-10.58; p=.005); ADL dependency (OR=2.39; CI=1.25-4.56; p=.008); malnutrition (OR=2.80; CI=1.63-4.83; p<.001); poor social support (OR=5.42; CI=2.93-11.36; p<.001); acute kidney injury (OR=3.05; CI=1.78-5.27; p<.001); and the presence of pressure ulcers (OR=2.29; CI=1.04-5.07; p=.041). ADL dependency was independently associated with both delirium incidence and nosocomial infections (respectively: OR=3.78; CI=2.30-6.20; p<.001 and OR=2.30; CI=1.49-3.49; p<.001). The number of impaired CGA components was also found to be associated with in-hospital death (p<.001), delirium incidence (p<.001) and nosocomial infections (p=.005). Additionally, IADL dependency, malnutrition and history of falls predicted longer hospitalizations. There were no significant changes in overall functional status during the hospital stay.\ud \ud \ud Conclusions\ud CGA identified patients at higher risk of in-hospital death and adverse outcomes, of which those with functional dependence, malnutrition and poor social support were foremost