the increase in copeptin levels in mild head trauma does not predict the severity and the outcome of brain damage

Aim: To investigate the copeptin prognostic role in mild head trauma. Methods: We enrolled 105 adult patients who entered the emergency room because of recent mild head trauma; we evaluated: clinical picture, imaging and laboratory data (including copeptin). Results: Copeptin resulted higher in mild head trauma patients compared with controls: 29.89 pmol/l versus 7.05 pmol/l; (p = 0.0008). Copeptin failed in identifying patients with or without brain lesions detected by CT scan, and patients with or without adverse events during the 30 days follow-up. Conclusion: We confirmed that mild head trauma patients have a significantly higher copeptin plasma levels compared with controls. Nevertheless, we did not observe a significant role for copeptin in traumatic brain injury patients regarding brain damage and outcome

The secret in the clinic of genital ambiguity: a case study

El artículo presenta el estatuto del secreto de familia como forma de enfrentar el diagnóstico de ambigüedad genital del niño. Un estudio de caso desde la escucha clínica psicoanalítica pone de relieve la experiencia de los padres frente a la condición de ambigüedad genital de manera particular y única. Se destaca la forma como cada cual intenta asimilar el real de esta condición genética a partir de un secreto de familia que se establece entre los padres y el hermano mayor del paciente.O artigo apresenta o estatuto do segredo familiar como forma de enfrentamento ao diagnóstico de ambiguidade genital de uma criança. O estudo de caso, realizado a partir da escuta clínica de base psicanalítica, evidenciou a experiência destes pais frente a condição da ambiguidade genital, de forma particular e única. Destaca-se o modo como cada um tenta assimilar o real desta condição genética a partir de um segredo familiar estabelecido entre os pais e o irmão mais velho do paciente.This article presents the statute of the family secret as a way of confronting the diagnosis of genital ambiguity in a child. The case study, conducted through a psychoanalytic clinical listening, disclosed a unique and particular parental experience in facing their child’s genital ambiguity. We highlight individuals’ particular attempts to assimilate the reality of this genetic condition through a family secret established between the patient’s parents and older brother

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

DJ-1 is a copper chaperone acting on SOD1 activation.

Lack of oxidative stress control is a common and often prime feature observed in many neurodegenerative diseases. Both DJ-1 and SOD1, proteins involved in familial Parkinson disease and amyotrophic lateral sclerosis, respectively, play a protective role against oxidative stress. Impaired activity and modified expression of both proteins have been observed in different neurodegenerative diseases. A potential cooperative action of DJ-1 and SOD1 in the same oxidative stress response pathway may be suggested basedonacopper- mediatedinteractionbetweenthetwo proteins reported here. To investigate the mechanisms underlying the antioxidative function of DJ-1 in relation to SOD1 activity, we investigated the ability of DJ-1 to bind copper ions.Westructurally characterized a novel copper binding site involving Cys-106, and we investigated, using different techniques, the kinetics of DJ-1 binding to copper ions. The copper transfer between the two proteins was also examined using both fluorescence spectroscopy and specific biochemical assays for SOD1 activity. The structural and functional analysis of the novel DJ-1 copper binding site led us to identify a putative role for DJ-1 as a copper chaperone. Alteration of the coordination geometry of the copper ion in DJ-1 may be correlated to the physiological role of the protein, to a potential failure in metal transfer to SOD1, and to successive implications in neurodegenerative etiopathogenesis

Escuta clínica em um ambulatório de genética: uma experiência extensiva

O trabalho busca relatar uma prática extensionista em um Hospital Universitário que teve como objetivo ampliar as ações no cuidado a pessoas com defeitos congênitos (DC) no SUS. Para tanto, apresenta-se a experiência de estudantes de psicologia em ambulatório de genética, ao associar à prática médica ambulatorial a escuta clínica. Discute-se neste artigo a importância da prática extensiva na atenção a pacientes com DC e seus familiares, decorrente da necessidade da interlocução entre medicina e psicologia na clínica contemporânea. Os resultados delimitaram os desafios enfrentados pelas estudantes e os efeitos da prática extensionista em serviço de genética clínica: estabelecimento de um espaço de fala e escuta; complexidade das condições genéticas; problemática do acompanhamento psicológico em serviço ambulatorial; e implicações na formação em Psicologia. Ressalta-se, por fim, a pertinência das reflexões teórico-clínicas acerca de uma primeira experiência de escuta clínica em sua dupla vertente: como dispositivo tanto terapêutico quanto formativo

Accidental digitoxin intoxication: an interplay between laboratory and clinical medicine

Introduction: Two Italian adults arrived at the Emergency Department referring diarrhea, nausea and vomiting for 4 days; weakness, fatigue and visual hallucinations were also complained of. Patients reported the ingestion of some leaves of a plant, which they supposed to be "donkey ears", a week before. Physical examination showed hypotension and bradycardia and ECG examination disclosed sinus rhythm and repolarization abnormalities (scooping of the ST-T complex) in both patients and a 2:1 AV block in the man. Materials and methods: Digoxin concentration was evaluated twice for each patient (at the admission and after 4 hours) by the automated immunoassay system ADVIA Centaur®. Digitoxin concentration was evaluated by liquid chromatography-mass spectrometry (LC-MS/MS). Results: Despite clinical picture was suggestive of digitalis intoxication, digoxin levels were undetectable. Due to the more severe clinical picture, the male patient was treated with anti-digoxin antibodies (Digifab®) achieving a good clinical improvement and remission of the AV block within two hours. Initial diagnosis was confirmed by LC-MS/MS showing high digitoxin concentrations, but digoxin was undetectable. Patients remained stable and 48 hours later were discharged from the hospital. Conclusion: Whereas digoxin determination frequently relies on monoclonal antibodies which do not cross-react to digitoxin, polyclonal antibodies constituting Digifab® recognize a large spectrum of cardiac glycosides, including digitoxin. This report emphasizes the primary role of the clinical approach to patients in the emergency setting and how an active communication and a continuous sharing of professional experiences between Laboratory and Clinicians ensure an early and correct diagnosis

Usefulness of suPAR in the risk stratification of patients with sepsis admitted to the emergency department

To investigate the role of suPAR in patients with sepsis admitted to the Emergency Department (ED). We performed multicentre prospective trial including patients admitted to the ED of three different Italian hospitals. Patients were studied upon admission on day 1, 2, 4 and 7. They were subdivided into two groups: sepsis (group 1) and severe sepsis or septic shock (group 2). The two groups were comparable for age, gender and CRP level on day 1. Patients with severe sepsis or septic shock displayed significantly higher baseline levels of suPAR, PCT and lactate. In both groups, suPAR decreased across the time (p < 0.0005). Group 1 was not different from group 2 (p = 0.545) in mortality at 7 days, while group 2 had higher mortality at 30 days than group 1 (p = 0.022). At the multivariate analysis, lactate1 (p = 0.012) and age (p = 0.019) were independent predictors of mortality at 7 days, whereas suPAR1 (p = 0.023) and age (p = 0.032) were independent predictors of mortality at 30 days. Lactate and suPAR resulted the most predictive biomarkers in the risk stratification of patients with suspected infection initially admitted to the ED, according to their role in predicting 7- and 30-day mortality, respectively