Cuidados y atención hospitalaria en un niño con osteogénesis imperfecta

RESUMEN Introducción: La osteogénesis imperfecta es un trastorno hereditario del tejido conectivo que condiciona fragilidad ósea y susceptibilidad a fracturas. Es una enfermedad sistémica con posibilidad de afectación esquelética y extraesquelética. Su cuidado es, por tanto, multidisciplinar y el papel de los profesionales de la pediatría es primordial. Objetivo: Aportar información sobre las características y el cuidado de la osteogénesis imperfecta, a través de la descripción de un caso clínico. Pesentación del caso: Niño de 2 años y 3 meses de edad, de origen argelino y de padres consanguíneos. Fue diagnosticado en su país de origen de una forma recesiva de osteogénesis imperfecta en los primeros meses de vida por fracturas a repetición. Conclusiones: La manipulación cuidadosa, el control del dolor y el apoyo emocional, entre otros, son fundamentales. Los profesionales de pediatría, como agentes activos en estos casos, deben conocer las peculiaridades del cuidado de pacientes con osteogénesis imperfecta para evitar y detectar complicaciones asociadas. En las familias el conocimiento conlleva además, una toma de conciencia sanitaria acerca de esta enfermedad.

ABSTRACT Introduction: Osteogenesis imperfecta is an hereditary disorder of the connective tissue that conditions to bone fragility and sensitivity to fractures. It is a systemic disease with a possibility of skeletic and extraskeletic affectations. Therefore, its care is multidisciplinary and the role of Pediatrics professionals is paramount. Objective: Contribute with information on the characteristics and the care of osteogenesis imperfecta through the description of a clinical case. Case presentation: Boy of 2 years and 3 months old, from Algeria and with parents by blood. He was diagnosed in his country with a recesive osteogenesis imperfecta in the first months of life due to repeated fractures. Conclusions: Careful handling, pain control and emotional support, among others, are important. Pediatric professionals as active agents in these cases should know the peculiarities of the care of patients with osteogenesis imperfecta to avoid and detect asssociated complications. In the families, knowledge on this also entails sanitary awareness on the disease.

Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review / Estudios de imagen utilizados como ayuda en el diagnóstico de displasia cleidocraneal. Una revisión

Cleidocranial dysplasia (CCD), also known as Marie-Sainton syndrome, is a rare disorder of autosomal dominant type that presents specific characteristics at the skeletal and dental level. The diagnosis of CCD is based on clinical and radiographic findings. Panoramic, cephalometric and anterior poster radiographs have been used for its diagnosis in dentistry. However, these radiological techniques have limitations, and advances in technology with new imaging studies such as magnetic resonance imaging (MRI) and ultrasound have emerged, contributing to the diagnosis of CCD. Therefore, the aim of this review was to identify and describe current imaging studies that contribute to both the diagnosis and adequate and efficient treatment planning of CCD, and describe the clinical and radiographic characteristics of patients with this syndrome. (AU)

La displasia cleidocraneal (DCC), también conocida como síndrome de Marie-Sainton, es un trastorno poco común de tipo autosómico dominante, que presenta características específicas a nivel esquelético y dental. El diagnóstico de DCC se basa en hallazgos clínicos y radiográficos. Las radiografías panorámicas, cefalométricas y posteroanteriores se han utilizado para su diagnóstico en el área de la odontología, pero con los avances de la tecnología y debido a las limitaciones de estas técnicas radiológicas han surgido nuevos estudios de imagen como la resonancia magnética (RM) y la ecografía, que contribuyen al diagnóstico de DCC. Por lo tanto, el propósito de esta revisión fue identificar y describir los estudios de imagen actuales que aportan tanto al diagnóstico como a la planificación del tratamiento adecuado y eficiente de la DCC, y permiten describir las características clínicas y radiográficas de los pacientes con este síndrome. (AU)

Root dysplasias of human teeth: a review / 中华口腔医学杂志

Tooth development is a complex physiological process, which goes through bud stage, cap stage, bell stage and root development stage. The aim of this review article is to report the clinical manifestations of root malformations and the mechanisms of root dysplasias of human teeth. The effects of epithelial root sheath on the development of tooth roots were also elaborated.

Manejo de displasias esqueléticas / Skeletal dysplasias management

Las displasias esqueléticas son un grupo heterogéneo de enfermedades caracterizadas por la alteración primaria del tejido óseo y/o cartilaginoso. La incidencia de muchas de estas entidades es desconocida, estimándose una incidencia general de 1 de 4.000 recién nacidos vivos. Frente a pacientes con restricción prenatal de crecimiento o que presentan talla baja durante la niñez, especialmente si existe desproporción corporal, debemos sospechar la presencia de una displasia esquelética. El estudio radiológico es fundamental para confirmar la afección ósea e intentar aproximarse a un diagnóstico preciso, pero requiere de especialistas expertos. En la actualidad contamos con estudio molecular confirmatorio y son las alteraciones de los genes FGFR3, COL2α1 y SHOX los que dan cuenta de las displasias que más frecuentemente observaremos en nuestra práctica clínica. En los últimos años la mayor precisión diagnóstica se ha acompañado de mayores oportunidades terapéuticas. El desarrollo de nuevas técnicas quirúrgicas de apoyo en casos de deformidades óseas y de técnicas menos invasivas de alargamiento han determinado mejoría en talla final, pero por sobre todo, en la calidad de vida de nuestros pacientes.

The skeletal dysplasias are a heterogeneous group of diseases characterized primarily by impaired primary bone and/or cartilage development. The incidence of many of these entities is unknown; an overall incidence of 1 in 4,000 live births is estimated. Clinically, we must suspect the presence of a skeletal dysplasia in patients with prenatal growth restriction or childhood with short stature, especially in the presence of body disproportion. The radiological study is essential to confirm the bone condition so to try approach an accurate diagnosis, and skilled experts are required. Today we have the possibility to confirm the diagnosis by molecular studies, and we know that molecular alterations in FGFR3, COL2α1 and SHOX genes account for the most frequent cases that we will observe in our clinical practice. In recent years the increased diagnostic accuracy has been accompanied by major therapeutic opportunities. The development of new surgical techniques in bone deformity management and less invasive enlargement techniques have certainly improved the final height, but above all, in the quality of life of our patients.

Achondrogenesis: A Lethal Chondrodystrophy.

Achondrogenesis is a type of skeletal dysplasia. Skeletal dysplasias are the heterogeneous class of bone growth disorders resulting in abnormal shape and size of the skeleton. Here, we present a rare case of achondrogenesis which was delivered by induced abortion at 6½ months of gestation. The physical, radiological, and ultrasonographic examinations done raised the possibility of this very rare anomaly. Achondrogensis is characterized by extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. This rare condition has got genetic mutations associated with it. Achondrogenesis resembles other chondrodystrophies, therefore, its diagnosis needs to be made promptly and accurately.

Anomalías congénitas / Congenital anomalies

Las anomalías congénitas en conjunto con la restricción del crecimiento intrauterino dan cuenta del 50 a 60 por ciento de la mortalidad fetal. En este artículo se describen las malformaciones congénitas más importantes divididas por sistemas, la mayoría son diagnosticables a través del ultrasonido; sin embargo, hay un grupo de ellas que no son posibles de diagnosticar, otras que se desarrollan tardíamente en el embarazo y finalmente existen casos en que el examen ultrasonográfico puede sugerir una anormalidad inexistente. También se profundiza en la incidencia, etiología y factores de riesgo de las malformaciones congénitas, se describe la importancia y características del diagnóstico prenatal y de la prevención por medio de la suplementación de ácido fólico en la dieta.

Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60 percent of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent abnormality. Incidence, etiology and risk factors of congenital malformations are described, as well as the importance and characteristics of prenatal diagnosis and prevention through folic acid supplementation in the diet.

Malformations of cortical development / Malformações do desenvolvimento cortical

Malformations of cortical development (MCD) have been increasingly identified. The purpose of this presentation is to review the current knowledge of the MCD. Before we address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD. Finally, the last part of this presentation will address the correlation between MCD and epilepsy.

As malformações do desenvolvimento cortical (MDC) são cada vez mais identificadas e diagnosticadas. O propósito desta apresentação é rever o conhecimento recente sobre as MDC. Antes de abordarmos o assunto em questão, apresentaremos brevemente uma revisão sobre a formação cortical. A seguir, abordaremos as principais entidades compreendidas dentro da classificação das MDC e, finalmente, resumiremos a correlação entre MDC e epilepsia.

A 6-year experience of fetal skeletal anomalies prenatal diagnosis at anomaly clinic, Siriraj Hospital.

Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies between January 2000 and December 2005 at Anomaly Clinic, Maternal-Fetal Medicine Unit, Siriraj Hospital were reviewed retrospectively. Demographic data such as maternal age, gravida, parity, gestational age at first diagnosis were collected, including prenatal ultrasound findings. Final diagnosis and pregnancy outcome after termination of pregnancy were also demonstrated. Results: The prevalence of skeletal dysplasias among fetal anomaly cases in the study interval was 3.86% (20/518 cases and 95%CI=2.51%, 5.89%). Mean maternal age was 30.3(+ 5.3) years old. The most likely time of diagnosis was 26 (+ 5.7) weeks of gestation. The most common type diagnosed prenatally was thanatophoric dysplasia (40%). All cases of prenatal ultrasound findings of suspected skeletal dysplasias demonstrated short limbs. Three cases were non-lethal anomalies and the parents decided to continue pregnancy. In the remaining 17 cases, the parents were counseled about lethal prognosis of their fetuses and only 11 cases decided to terminate pregnancy at our hospital. Thanatophoric dysplasia was the most common diagnosis after termination of pregnancy (9 in 11 cases). Conclusion: Fetal skeletal dysplasias are one of fetal anomalies which can be detected prenatally by routine ultrasonography. Detection of abnormal long bone length is the important finding. Thorough scanning of all bony characteristics can help clinicians about prenatal diagnosis and pregnancy outcomes.

The expression of P53,K-ras and hMSH2 in ulcerative colitis-associated colorectal cancer / 中华消化杂志

0.05). The positive rate of MSI in UC with dysplasia was significantly higher than that in UC (P0.05). The loss of hMSH2 protein expression was not found in UC with dysplasia and UCACRC. Conclusions Both the mutations of P53, K-ras genes and MSI are early events in UCACRC. There is no relationship between MSI and loss of hMSH2 protein expression in (UCACRC).