[Nystagmus secondary to albinism with ocular involvement in a female: A diagnostic challenge]. / Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: Un desafío diagnóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. Objec tive: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

[Integrity and misconduct in biomedical research]. / Integridad y conductas inapropiadas en investigación biomédica.

Editorial Boards of mainstream journals occasionally face ethical misconducts in received manus cripts. The Committee on Publication Ethics (COPE) provides recommendations for editors on how to deal with suspected ethical misconduct in either received or published manuscripts. The manus cript is rejected when malpractice is observed during the peer review process, however, if the mis conduct is detected after the publication, the publication will be retracted. The Revista Chilena de Pediatría (Chilean Journal of Pediatrics) has not been exempt from these type of conflicts. In this article, we analyze different aspects regarding the lack of integrity in publications, such as authorship, plagiarism, and conflict of interest. We can conclude that malpractices take place mainly due to the lack of knowledge of the authors rather than intent to defraud. It is expected that this article will suc ceed in instructing and sensitizing our researchers on good practices in research and publication, and contribute, as far as possible, to prevent this actions in the manuscripts sent to our Journal.

[Lumbar hypoplasia associated to thoracolumbar kyphosis in infants. Anatomic variant? Clinical cases]. / Hipoplasia vertebral asociada a cifosis toracolumbar en lactantes ¿variante anatómica? Casos clínicos.

INTRODUCTION: Vertebral hypoplasia is an anomaly of the vertebral bodies, in which they present a wedge shape, usually at the level of the thoracolumbar junction. Although it is associated with cer tain storage diseases and bone dysplasias, it is also possible to find isolated vertebral hypoplasia it in healthy infants or associated with thoracolumbar kyphosis. The objective of this report is to show the evolution of vertebral hypoplasia associated to kyphosis in two apparently health children. CASE REPORT: Two cases of infants diagnosed with clinically visible lumbar kyphosis when they were sitting. Spine X-rays of both showed lumbar vertebral hypoplasia at L2 level as the only finding. After ruling out other conditions associated with vertebral hypoplasia, conservative management was indicated; in the first case a clinical-radiological follow-up and in the second one, a corset given the magnitude of kyphosis. The evolution was favorable, with complete radiological clinical resolution at the age of 15 months in the first case and clinical regression in the second, in which, at 3 years and 4 months of age, an image of mild vertebral hypoplasia persisted. CONCLUSIONS: Isolated vertebral hypoplasia or associated to kyphosis may be considered a minor anomaly or anatomic variant of infant spine development, however, it requires follow-up until its normalization.

[Benign transient hyperphosphatasaemia in infants: Clinical series]. / Hiperfosfatasemia transitoria benigna de la infancia: Serie clínica.

Alkaline Phosphatase (ALP) is a group of 4 isoenzymes produced in different tissues. Elevated levels of ALP can be developed under physiological conditions, and can indicate the presence of bone or hepatobiliary diseases. In children, one of its most common harmless causes is benign transient hyperphosphatasaemia (BTH), a little known condition. The objective is to report BTH cases and propose a monitoring plan. CASE REPORTS: The cases of 5 children aged between 11 and 50 months are presented, 4 of them female, with the incidental finding of a sudden and severe ALP elevation (> 1,000 U/l), in tests ordered due to either abnormal growth and development, or intercurrent infections. Bone and liver disease were ruled out using the patient history, physical examination and basic laboratory results. Isoenzymes levels were determined in 2 patients. A return to normal ALP levels was observed over a period of 1-6 months, with no evidence of further complications. CONCLUSION: BTH is a benign self-limiting biochemical disorder, which should be considered in children under 5 years old with severe ALP elevation in the absence of clinical or laboratory abnormalities suggestive of bone or liver disease.

[Breastfeeding, gross motor development and obesity, is there any causal association?] / Lactancia materna, desarrollo motor y obesidad, ¿Existe asociación causal?

Childhood obesity is the main nutritional and public health problem in Chile, being the principal causes, the increase in energy dense foods and the decline of physical activity. Interventions to prevent obesity at infancy are focused mainly in improving quality and quantity of dietary intake, without taking into account physical activity, which is expressed under two years of age, mainly by motor development. Some studies have proven that motor development at early age, may influence the ability to perform physical activity. Thus, infants scoring a lower motor development may have a greater risk of becoming obese. It isn’t know if childhood obesity causes lower motor development (given that children may have greater difficulty to move), or on the contrary, it is the lower ability to move, which increases the obesity risk. The objective of this manuscriptis analize the evidence regards the relation between breastfeeding, motor development and obesity in the childhood.To be able to understand this asocation and casual mecanism, it is important to develop stategys focused in early infancy to promote breastfeeding, healthy eating and early stimulation, starting in pediatric office.

[Predictive value of Ages & Stages Questionnaires for cognitive performance at early years of schooling]. / Validez del Ages & Stages questionnaires para predecir el desempeño cognitivo en los primeros años de educación escolar.

The Ages and Stages questionnaires (ASQ) has been recently validated in our country for developmental screening. The objective of this study is evaluate the validity of ASQ to predict low cognitive performance in the early years of schooling. PATIENTS AND METHOD: Diagnostic test studies conducted on a sample of children of medium-high socioeconomic level were evaluated using ASQ at least once at 8, 18 and/or 30 months old, and later, between 6 and 9 years old, reevaluated using the Wechsler Intelligence Scale for Children-third edition (WISC-III). Each ASQ evaluation was recorded independently. WISC-III was standardized, considering underperformance when the total score were under -1 standard deviation. RESULTS: 123 children, corresponding to 174 ASQ assessments (42 of them were 8 months old, 55 were 18 months and 77 were 30 months of age) were included. An area under the ROC curve of 80.7% was obtained, showing higher values at 8 months (98.0%) compared to 18 and 30 months old (78.1 and 79.3%, respectively). Considering different ASQ scoring criteria, a low sensitivity (27.8 to 50.0%), but a high specificity (78.8 to 96.2%) were obtained; the positive predictive value ranged between 21 and 46%, while the negative value was 92.0-93.2%. Conclusion ASQ has low sensitivity but excellent specificity to predict a low cognitive performance during the first years of schooling, being a good alternative to monitor psychomotor development in children who attend the private sector healthcare in our country.