Low daily MEWS scores as predictors of low-risk hospitalized patients.

BACKGROUND: The Modified Early Warning System (MEWS) is a well-validated tool used by hospitals to identify patients at high risk for an adverse event to occur. However, there has been little evaluation into whether a low MEWS score can be predictive of patients with a low likelihood of an adverse event. AIM: The present study aims to evaluate the MEWS score as a method of identifying patients at low risk for adverse events. DESIGN: Retrospective cohort study of 5676 patient days and analysis of associated MEWS scores, medical comorbidities and adverse events. The primary outcome was the association of average daily MEWS scores in those who had an adverse event compared with those who did not. RESULTS: Those with an average MEWS score of >2 were over 9 times more likely to have an adverse event compared with those with an average MEWS score of 1-2, and over 15 times more likely to have an adverse event compared to those with an average MEWS score of <1. CONCLUSIONS: Our study shows that those with average daily MEWS scores <2 are at a significantly lower likelihood of having an adverse event compared with a score of >2, deeming them 'low-risk patients'. Formal recognition of such patients can have major implications in a hospital setting, including more efficient resource allocation in hospitals and better patient satisfaction and safety by adjusting patient monitoring according to their individual risk profile.

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease.

Mastitis granulomatosa idiopática: 10 años de experiencia en el Centro de Imagenología del Hospital Clínico de la Universidad de Chile / Idiopathic granulomatous mastitis: 10 years of experience at the Imaging Center of the Clinical Hospital of the University of Chile

La mastitis granulomatosa idiopática es una patología inflamatoria de la mama poco frecuente, de etiología desconocida. Dado su forma de presentación clínica e imágenes puede simular tanto patología infecciosa como neoplásica, por lo que es importante sospecharla con el fin de realizar un diagnóstico adecuado y oportuno. La mayoría de los reportes en la literatura sobre esta patología corresponden a series de pocos casos. En este estudio se realizó un análisis retrospectivo de los aspectos clínicos, histopatológicos, ima-genológicos y de manejo de 36 casos diagnosticados mediante biopsia Core bajo ecografía en el Hospital Clínico de la Universidad de Chile entre los años 2004 y 2014. En este reporte, al igual que en la literatura, los hallazgos clínicos e imagenológicos de la mastitis granulomatosa se superponen con los de la patología maligna e infecciosa. Si bien no observamos hallazgos patognomónicos, existen signos que hacen sospechar esta patología. En nuestro estudio encontramos que la presentación clínica más frecuente fue la masa o nódulo palpable, seguida de fístulas a la piel y engrosamiento cutáneo. Imagenológicamente el hallazgo mamográfico más frecuente fue la asimetría y en ecografía fue el área irregular con extensiones tubulares hipoecogénicas. Se revisan además aspectos histológicos, fisiopatológicos y del manejo de esta patología.

Idiopathic granulomatous mastitis is an infrequent inflammatory disease of the breast, with etiology still unknown. Clinical presentation and images can simulate both infectious and neoplastic disease so it's important to suspect it to make a proper and timely diagnosis. Most reports in the literature on this topic correspond to small case series. This study is a retrospective analysis of the clinical, histopathological and imaging features and its management of 36 cases diagnosed by core biopsy under ultrasound at the Clinical Hospital of the University of Chile between 2004 and 2014. In this report, as in the literature, clinical and imaging findings in idiopathic granulomatous mastitis overlap with malignant and infectious diseases. Although we observed no pathognomonic findings, there are signs that make you suspect this condition. In our study we found that the most common clinical presentation was a palpable mass or nodule, followed by cutaneous fistula. Radiologically the most common mammographic finding was lobulated or irregular area and in ultrasound the most frecuent is the distorted breast parenchyma with posterior acoustic shadowing. Histological, pathophysiological and management aspects of this pathology was also reviewed.

Dual-retrieval models and neurocognitive impairment.

Advances in dual-retrieval models of recall make it possible to use clinical data to test theoretical hypotheses about mild cognitive impairment (MCI) and Alzheimer's dementia (AD), the most common forms of neurocognitive impairment. Hypotheses about the nature of the episodic memory declines in these diseases, about decline versus sparing of specific processes, and about which individuals will become impaired over time can all be rigorously tested. Basic theoretical principles, such as whether recollection and reconstruction are distinct retrieval processes, can also be evaluated. In 3 studies, measurements of recollective retrieval, reconstructive retrieval, and familiarity judgment were extracted from standard clinical instruments, for healthy subjects and for subjects with MCI and AD diagnoses. Differences in reconstructive retrieval consistently distinguished MCI and AD, in nationally representative subject samples as well as in highly educated samples, and recollective retrieval also distinguished them in highly educated samples. Dual-retrieval processes were accurate predictors of future conversion to MCI and AD over periods of 1.5-6 years and were better predictors than the best genetic marker of these conditions (the ε4 allele of the APOE genotype). The standard recollection-deficit account of memory declines in MCI and AD was not supported, but the data were consistent with an alternative account that stresses the increasing importance of reconstruction deficits as older adults convert to these diseases.

Microcalcificaciones mamarias: revisión de los descriptores y categorías BI-RADS / Breast microcalcifications: review the BI-RADS descriptors and categories

Las calcificaciones mamarias son hallazgos frecuentes en la mamografía. La mayoría de ellas son originadas por patología benigna, aunque algunos patrones agrupados específicos pueden ser causados por patología maligna, especialmente el carcinoma ductal in situ. El objetivo del presente artículo es realizar una revisión de los descriptores y categorías BI-RADS de las microcalcificaciones, señalando sus características más importantes y el riesgo de malignidad asociado a cada descriptor.

Breast calcifications are frequent findings on mammography. Most of them are caused by benign pathologies, although some specific grouped patterns may be caused by malignancy, especially ductal carcinoma in situ. The aim of this article is to review the BI-RADS descriptors and categories of microcalcifications, marking its most important characteristics and the risk of malignancy associated with each descriptor.

The apolipoprotein E genotype predicts longitudinal transitions to mild cognitive impairment but not to Alzheimer's dementia: findings from a nationally representative study.

OBJECTIVE: The ε4 allele of the apolipoprotein E (APOE) genotype is the most widely accepted genetic risk factor for Alzheimer's dementia (AD), but findings on whether it is a risk factor for the AD prodrome, mild cognitive impairment (MCI), have been inconsistent. In a prospective longitudinal design, we investigated (a) whether transitions to MCI and other forms of neurocognitive impairment without dementia (CIND) are more frequent among normal ε4 carriers than among noncarriers and (b) whether subsequent transitions to AD from MCI and from other forms of CIND are more frequent among ε4 carriers than among noncarriers. METHOD: The frequency of the ε4 allele was studied in older adults (mean age > 70), who had participated in two or more waves of neuropsychological testing and diagnosis in the Aging, Demographics, and Memory Study (ADAMS) of the United States Department of Health and Human Services, National Institutes of Health, National Institute on Aging's Health and Retirement Study, conducted by the University of Michigan. The association between ε4 and longitudinal transitions to specific types of CIND and dementia can be determined with this data set. RESULTS: Epsilon 4 increased the rate of progression from normal functioning to MCI (58% of new diagnoses were carriers) but not to other forms of CIND. The rate of progression to AD from MCI or from other forms of CIND was not increased by ε4. CONCLUSIONS: The results support the hypothesis that ε4 is a risk factor for transitions from normal functioning to MCI but not for subsequent transitions to AD. In the ADAMS sample, the reason ε4 is elevated in AD individuals is because it is already elevated in MCI individuals, who are the primary source of new AD diagnoses.

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. We have identified and clinically evaluated three consanguineous families of Israeli Arab origin with prelingual non-syndromic hearing impairment and absent otoacoustic emissions in a total of eight affected individuals. All the families originate from the same village and bear the same family name. We have identified a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene in affected individuals from these families. Among the inhabitants of the village, we found an exceptionally high carrier frequency of ~1 in 12 individuals (7/85; 8.2%). The high prevalence of hearing impairment can be explained by a founder effect and the high consanguinity rate among the inhabitants of this village.

Constraint-Induced Movement therapy can improve hemiparetic progressive multiple sclerosis. Preliminary findings.

OBJECTIVE: To evaluate whether Constraint-Induced Movement therapy (CI therapy) may benefit chronic upper extremity hemiparesis in progressive multiple sclerosis (MS). METHODS: Five patients with progressive MS, who had chronic upper extremity hemiparesis and evidence for learned non-use of the paretic limb in the life situation, underwent 30 hours of repetitive task training and shaping for the paretic limb over 2-10 consecutive weeks, along with physical restraint of the less-affected arm and a "transfer package" of behavioral techniques to reinforce treatment adherence. RESULTS: The patients showed significantly improved spontaneous, real-world limb use at post-treatment and 4 weeks post-treatment, along with improved fatigue ratings and maximal movement ability displayed in a laboratory motor test. Conclusions The findings suggest for the first time that slowly progressive MS may benefit from CI therapy. Further studies are needed to determine the retention of treatment responses.

Poststroke cerebral peduncular atrophy correlates with a measure of corticospinal tract injury in the cerebral hemisphere.

BACKGROUND AND PURPOSE: Methods have not been well developed and tested to predict the extent of remote degeneration in the central nervous system that follows cerebral infarction. We hypothesized that the extent of infarction overlap with the cerebral hemispheric course of the corticospinal tract (CST) on structural MR imaging predicts the extent of ipsilateral cerebral peduncular atrophy in patients with chronic stroke. MATERIALS AND METHODS: Hemiparetic patients (n = 34) with supratentorial unilateral infarctions who were at least 1 year poststroke onset and enrolled in research protocols of Constraint-Induced Movement therapy underwent volumetric T1 MR imaging of the brain. The following measures were calculated for each patient: 1) the maximal proportion of the CST in the cerebral hemisphere on axial section that was overlapped by infarction, 2) total infarction volume, and 3) the ratio of the cross-sectional area of the ipsilateral cerebral peduncle to the area of the contralateral cerebral peduncle (peduncular asymmetry ratio). Correlation analyses evaluated the predictive value of CST injury or infarction volume for the peduncular asymmetry ratio. RESULTS: CST injury correlated significantly with the peduncular asymmetry ratio (r = -0.65; P < .001), whereas infarction volume did not (r = -0.31; P = .09). CONCLUSIONS: The extent of postinfarction CST injury in the cerebral hemisphere predicts the extent of ipsilateral cerebral peduncular atrophy. More generally, the findings suggest that the extent of remote wallerian degeneration of a fiber tract is strongly related to its extent of injury directly at the site of infarction.

Biopsia estereotáxica mamaria: 2 años de experiencia / Directional vacuum-assisted stereotatic breast biopsy: a 2-year experience

Introduction: Directional vacuum-assisted stereotactic breast biopsy (DVAB), represents an excellent method for obtaining pathological diagnosis, being in many cases an alternative to surgery. Objectives: To present our 2-year experience in DVAB at the University of Chile's Clinical Hospital. Materials and methods: a descriptive retrospective study of DVAB was conducted in our Hospital from March 2005 to November 2007. Morphology of lesions, BI-RADS classification, pathology reports, complications as well as epidemiological data were recorded. Results: We included 79 patients with 95 lesions. Mean age 55 years. Of the 95 biopsies, 95.7 percent were microcalcifications. The sensitivity was 92.8 percent and specificity 100 percent. The positive predictive value was 100 percent, while negative PVwas 98.7 percent, with 8 percent of subestimation and complication rate of 3,1 percent. Conclusions: Our results confirm the advantages of said procedure in our Center, proving DVAB as highly reliable, with good histological correlation and minimal complications.

Introducción: La biopsia estereotáxica digital mamaria (BED), representa un excelente método para obtener diagnóstico histológico, siendo alternativa de elección frente a la cirugía en muchos casos. Objetivo: Presentar nuestra experiencia en la aplicación de la BED en el Hospital Clínico de Universidad de Chile. Material y método: Estudio descriptivo, retrospectivo de BED realizadas en el Hospital Clínico de la Universidad de Chile (marzo 2005-noviembre 2007). Se registró morfología de las lesiones, clasificación BI-RADS, informes de anatomía patológica, complicaciones y datos epidemiológicos. Resultados: Se incluyó a 79 pacientes con 95 lesiones. Edad promedio 55 años. De las 95 biopsias, 95,7 por ciento correspondieron a microcalcificaciones. La sensibilidad fue 92,8 por ciento y la especificidad 100 por ciento. El valor predictivo positivo fue 100 por ciento y negativo 98,7 por ciento. La subestimación fue de 8 por ciento y la tasa de complicaciones 3,1 por ciento. Conclusiones: Nuestros resultados confirman las ventajas del procedimiento en nuestro Centro, demostrando la BED como altamente confiable, con buena correlación histológica y mínimas complicaciones.