Diagnóstico y seguimiento de los pacientes con hipotiroidismo congénito diagnosticados por cribado neonatal

The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3 years of chronological age.The relevance of this screening program should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial.Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this program is necessary to progress in accordance with current scientific knowledge.     

Calidad de vida relacionada con la salud informada por los padres en preescolares españoles: propiedades psicométricas del Kiddy-KINDL-R

IntroductionAlthough several tools have been developed to assess general HRQoL in children, parental reports are required to supplement this information, especially in very young children. The parents version of the Kiddy-KINDL-R was developed to assess HRQoL in children aged 3 to 7 years through the reports of their parents or legal guardians.ObjectiveThe aim of this study was to validate the parents version of the Kiddy-KINDL-R questionnaire and assess its psychometric properties in a sample of Spanish preschool-aged children.MethodCross-sectional study in 283 parents or legal guardians of children aged 3 to 6 years that completed the Kiddy-KINDL-R questionnaire and an additional scale to assess anxiety problems. We performed confirmatory factor analysis to assess whether the original Kiddy-KINDL-R version fit the Spanish data; we assessed internal consistency by means of the ordinal alpha and the discriminant validity by means of the Preschool Anxiety Scale.ResultsAlthough the original six-factor model showed a good fit, we propose a model consisting of 22 items and the same 6 factors for the Spanish version. The reliability was excellent, and the internal consistency values were adequate. Our results showed significant negative correlations between the Kiddy-KINDL-R and the external anxiety measure, which was evidence of discriminant validity.ConclusionWe demonstrated that the Spanish version of the Kiddy-KINDL-R had good psychometric properties and that this questionnaire is an adequate assessment tool that could be useful in clinical practice.     

Total esterase activity in human saliva: Validation of an automated assay,characterization and behaviour after physical stress

Although saliva has esterase activity, this activity has not been characterized or studied in individuals subjected to physical stress. The aim of this report was to develop and validate an automated spectrophotometric assay for total esterase activity measurement in human saliva, as well as to study the contribution of different enzymes on this activity and its behaviour under physical stress in healthy subjects. The assay used 4-nitrophenyl acetate as substrate and was precise, accurate and provided low limits of detection and quantification. Inhibition with diisopropylfluorophosphate showed that cholinesterase, carboxylesterase and cholesterol esterase contributions not represented more than 20% of total esterase. Addition of standards of lipase and albumin to saliva samples showed that both proteins significantly contributed to esterase activity only when equal or higher than 11.6?IU/L and 250?μg/mL, respectively. Western blot analyses showed absence of paraoxonase-1 and high amount of carbonic anhydrase-VI. The high affinity of purified carbonic anhydrase-VI for the substrate supported a major contribution of this enzyme. Total esterase activity and alpha-amylase was measured in saliva samples from 12 healthy male students before and after participation in an indoor football match. The activity significantly increased after match and positively correlated with salivary alpha-amylase. This method could be used as a biomarker of physical stress in humans, with carbonic anhydrase-VI being the esterase that contributed more to the activity of the assay.     

Intestinal pseudo-obstruction in patients with systemic lupus erythematosus: A real diagnostic challenge

Intestinal pseudo-obstruction secondary to systemic lupus erythematosus (SLE) is a rare syndrome described in recent decades. There are slightly over 30 published cases in the English language literature, primarily associated with renal and hematological disease activity. Its presentation and evolution are a diagnostic challenge for the clinician. We present four cases of intestinal pseudo-obstruction due to lupus in young Mexican females. One patient had a previous diagnosis of SLE and all presented with a urinary tract infection of varying degrees of severity during their evolution. We consider that recognition of the disease is of vital importance because it allows for establishing appropriate management, leading to a better prognosis and avoiding unnecessary surgery and complications.     

Design and Testing of BACRA,a Web-Based Tool for Middle Managers at Health Care Facilities to Lead the Search for Solutions to Patient Safety Incidents

BackgroundLack of time, lack of familiarity with root cause analysis, or suspicion that the reporting may result in negative consequences hinder involvement in the analysis of safety incidents and the search for preventive actions that can improve patient safety.ObjectiveThe aim was develop a tool that enables hospitals and primary care professionals to immediately analyze the causes of incidents and to propose and implement measures intended to prevent their recurrence.MethodsThe design of the Web-based tool (BACRA) considered research on the barriers for reporting, review of incident analysis tools, and the experience of eight managers from the field of patient safety. BACRA’s design was improved in successive versions (BACRA v1.1 and BACRA v1.2) based on feedback from 86 middle managers. BACRA v1.1 was used by 13 frontline professionals to analyze incidents of safety; 59 professionals used BACRA v1.2 and assessed the respective usefulness and ease of use of both versions.ResultsBACRA contains seven tabs that guide the user through the process of analyzing a safety incident and proposing preventive actions for similar future incidents. BACRA does not identify the person completing each analysis since the password introduced to hide said analysis only is linked to the information concerning the incident and not to any personal data. The tool was used by 72 professionals from hospitals and primary care centers. BACRA v1.2 was assessed more favorably than BACRA v1.1, both in terms of its usefulness (z=2.2, P=.03) and its ease of use (z=3.0, P=.003).ConclusionsBACRA helps to analyze incidents of safety and to propose preventive actions. BACRA guarantees anonymity of the analysis and reduces the reluctance of professionals to carry out this task. BACRA is useful and easy to use.     

Evidence of zinc deficiency in competitive swimmers

ObjectiveThe aim of this study was to assess the nutritional zinc (Zn) status of elite swimmers during different training periods.MethodsA longitudinal paired study was performed at the University of Sao Paulo in eight male swimmers 18 to 25 y old who had been swimming competitively at the state and national levels for at least 5 y. The swimmers were evaluated over a total period of 14 wk: before the basic and specific preparatory period (BSPP-baseline), at the end of the basic and specific preparatory period (post-BSPP), and at the end of the polishing period (PP). Levels of Zn were determined in the plasma, erythrocyte, urine, and saliva by atomic absorption spectrophotometry. Anthropometric measurements and a 3-d food record were also evaluated.ResultsThe median plasma Zn concentration was below the reference value in all training periods (BSPP-baseline 59 μg/dL, post-BSPP 55.9 μg/dL, after PP 58.8 μg/dL, P > 0.05), as were threshold values for erythrocytes (BSPP-baseline 36.5 μg of Zn/g of hemoglobin, post-BSPP 42 μg of Zn/g of hemoglobin, after PP 40.7 μg of Zn/g of hemoglobin, P > 0.05), urinary Zn (BSPP-baseline 280 μg/24 h, post-BSPP 337 μg/24 h, after PP 284 μg/24 h, P > 0.05), and salivary Zn (BSPP-baseline 66.1 μg/L, post-BSPP 54.1 μg/L, after PP 79.7 μg/L, P > 0.05). Salivary Zn did not correlate with plasma and erythrocyte Zn levels.ConclusionThe results suggest that the elite swimmers studied presented a possible Zn deficiency and that salivary Zn was not adequate to evaluate the Zn nutritional status.     

Albendazole and its derivative JVG9 induce encystation on Giardia intestinalis trophozoites

In the present study, we evaluated the effect of an albendazole (ABZ) derivative JVG9 on cultured Giardia intestinalis. To assess the JVG9 effects, we evaluated the tubulin cytoskeleton by confocal microscopy, and we found that the characteristic staining was modified. The scanning electron microscopy images revealed extremely damaged trophozoites and cyst-like cells. The confocal images revealed that this drug triggered the expression of cyst wall protein 1 and encystation. We also found that at low doses, AL triggered the encystation process too.