Developmental dysplasia of the hip: Beyond the screening. Physical exam is our pending subject.

INTRODUCTION: Developmental dysplasia of the hip is a common cause of disability among children. Early detection leads to better prognosis. There are some risk factors that increase the possibility of developing a dysplasia. But not every child with developmental dysplasia has them. This means that physical examination is still very useful to detect them. However, based on clinical findings, the amount of requested ultrasound seems higher than it would be necessary. METHODS: Retrospective cohort study of infants born in a single tertiary care centre. Babies in which hip ultrasound was performed were included. During the period of study, patients with diagnosis of developmental hip dysplasia were also included, as well as the amount of ultrasounds requested during this period, and their efficiency. RESULTS: Out of the 456 newborns included, 530 hip ultrasounds were performed. Just 3 of the total 12 dysplasias had risk factors. The others were diagnosed through clinical examination. CONCLUSIONS: Screening protocols are useful to detect hip dysplasia but clinical examination is very important to detect those cases without risk factors. However, the number of tests is higher than expected according to the diagnosed dysplasias.

Displasia del desarrollo de la cadera: tamizaje y manejo en el lactante / Developmental dysplasia of the hip: screening and management in the infant

La displasia del desarrollo de la cadera comprende un conjunto de anormalidades que afectan la articulación coxofemoral: la displasia, subluxación y luxación de la cadera. El concepto de "displasia" describe anormalidades en la estructura femoral, acetabular o ambas. Corresponde a la patología ortopédica más frecuente del recién nacido y lactante, lo que genera mucha preocupación e intranquilidad entre los padres, en los primeros controles sanos de sus hijos. Es una patología en la que un diagnóstico oportuno y precoz son la clave para poder realizar un tratamiento efectivo, obteniendo como resultado una cadera clínica y radiológicamente normal al finalizar el desarrollo esquelético. Para esto es fundamental conocer la patología e ir activamente en su búsqueda. Actualmente existe mucha discusión sobre la manera de pesquisar esta patología. En Chile, se realiza tamizaje universal con imagen -radiografía de pelvis- a todos los niños a los 3 meses de edad. El objetivo de la siguiente revisión, es traer a la práctica clínica actual de todos aquellos profesionales que se enfrentan en distintos escenarios a esta patología: médicos de atención primaria, enfermeras, médicos en etapas de destinación y formación en distintas regiones del país, pediatras y ortopedistas, aquellas características y signos de sospecha propios de esta enfermedad y detallar las herramientas para un correcto diagnóstico y oportuno tratamiento.

Developmental dysplasia of the hip (DDH) comprises a set of abnormalities that affect the hip joint: hip dysplasia, subluxation, and dislocation. It is the most frequent orthopedic pathology of the newborn and infant, and it generates great concern among parents during the first health check-ups of their children. It is a condition in which a timely and early diagnosis is key to be able to carry out an effective treatment, obtaining as a result of a clinically and radiologically normal hip at the end of skeletal development. For this, it is essential to know this orthopedic condition and actively search for it. Currently, there is much discussion about how to screen DDH. In Chile, universal screening with imaging - pelvic radiography - is performed on all children at 3 months of age. The objective of the following review is to bring to the current clinical practice of all those professionals who face this pathology in different scenarios: primary care physicians, nurses, physicians in training stages in different regions of the country, pediatricians and orthopedic surgeons, signs of suspicion typical of the disease and detail the assessment tools for a correct diagnosis and timely treatment.

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

INTRODUCTION: Inborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with patients after treatment. A basic grasp of the strengths and limitations of biochemical testing is critical for clinicians to understand test results, identify when to seek a consultation with a specialist, or explain results to patients. METHODS: This resource is designed as an introduction to BCG testing for aminoacidopathies and urea cycle disorders, and includes eight cases. The resource was first developed for the Genetic Counseling Graduate Program at the University of Utah School of Medicine, and used in the last 2 years in small-group settings, where students were each engaged with one case (eight per session). RESULTS: Overall, students gave high ratings to the effectiveness of the examples used, and the interactive format encouraged students' questions. The resource has been tested with medical students and residents rotating through the Maternal Newborn Care Unit at the University Hospital. In this setting, a small-group case-based discussion was used. As expected, prior knowledge of IEM or BCG testing was low. Confidence in evaluating BCG testing after completing the learning activity improved. DISCUSSION: This resource facilitates the integration of specialized knowledge of IEM in a primary care-oriented setting. Genetics counseling students' feedback demonstrated the overall success of this activity in the specialized, genetics-oriented setting.

Accurate prediction of gestational age using newborn screening analyte data.

BACKGROUND: Identification of preterm births and accurate estimates of gestational age for newborn infants is vital to guide care. Unfortunately, in developing countries, it can be challenging to obtain estimates of gestational age. Routinely collected newborn infant screening metabolic analytes vary by gestational age and may be useful to estimate gestational age. OBJECTIVE: We sought to develop an algorithm that could estimate gestational age at birth that is based on the analytes that are obtained from newborn infant screening. STUDY DESIGN: We conducted a population-based cross-sectional study of all live births in the province of Ontario that included 249,700 infants who were born between April 2007 and March 2009 and who underwent newborn infant screening. We used multivariable linear and logistic regression analyses to build a model to predict gestational age using newborn infant screening metabolite measurements and readily available physical characteristics data (birthweight and sex). RESULTS: The final model of our metabolic gestational dating algorithm had an average deviation between observed and expected gestational age of approximately 1 week, which suggests excellent predictive ability (adjusted R-square of 0.65; root mean square error, 1.06 weeks). Two-thirds of the gestational ages that were predicted by our model were accurate within ±1 week of the actual gestational age. Our logistic regression model was able to discriminate extremely well between term and increasingly premature categories of infants (c-statistic, >0.99). CONCLUSION: Metabolic gestational dating is accurate for the prediction of gestational age and could have value in low resource settings.

Variabilidad interinstitucional del tamiz neonatal en México / Institutional variability of neonatal screening in Mexico

Introducción. Actualmente, los avances tecnológicos han hecho factible el tamiz neonatal (TN) para un número cada vez mayor de enfermedades. En México, la normatividad vigente se ha mantenido sin cambios desde 1988, contemplando únicamente la detección del hipotiroidismo congénito; sin embargo, el TN ha evolucionado de manera diferenciada en el sector salud. Objetivo: conocer la variabilidad del número de enfermedades detectadas mediante el TN y las metodologías utilizadas para su realización en las distintas instituciones del sistema de salud mexicano. Métodos. Se realizaron entrevistas telefónicas con los coordinadores estatales del Programa de TN. Resultados. Algunas instituciones realizan el tamiz para una enfermedad, mientras que otras lo practican hasta para 60 enfermedades. Las metodologías empleadas van de 1 a 5. Conclusión. Existe gran variabilidad en el número de enfermedades que se tamizan, así como en las metodologías empleadas; dicha variabilidad depende del lugar del nacimiento y la adscripción laboral de los padres. La variabilidad conduce a inequidad en la oportunidad de que a los recién nacidos se les detecten enfermedades congénitas graves, que tienen un alto potencial generador de discapacidad, por lo que es importante que se establezcan políticas de salud equitativas, justas y modernas sobre el TN en México.

Introduction. Recently, the development of technology has reached the availability of neonatal screening (NS) for an increasing number of diseases. In Mexico, the actual official regulation makes obligatory the detection of only one disease -hypothyroidism. Despite this, the regulation has remained without changes since 1988. Panels involved in NS have evolved differently in the Mexican health sector. We undertook this study to determine the variability of the NS panels and the number of detected diseases as well as the diverse methodologies used for their determination in the different institutions of the Mexican health system. Methods. Telephone interviews were made to the directors of the NS program for each federal entity and institution. Results. We found that some institutions only screen for one disease, whereas others screen for up to 60 diseases. Methodology variation was 1 to 5. Conclusions. There is great variability in the number of diseases detected in newborns as well as in the methodologies used. Such inconsistency depends on the place of birth and the parents' employment for insurance affiliation. This difference leads to unequal opportunities for the detection of severe inherited diseases with high potential of impaired development. It is important to establish equal, fair and modern health policies in regard to NS in Mexico.