RESUMEN

Handover between colleagues is a complex task. The problem is that handovers are often inadequate because they are not structured according to theoretically grounded guidelines. Based on the cognitive load theory, we suggest that allowing a clarifying dialogue and thereby optimizing germane cognitive load enhances the information quality and diagnostic accuracy at handover, but may prolong handover duration. We also expect that mentioning key information first and thus decreasing intrinsic cognitive load improves information quality and diagnostic accuracy. We developed two representative paediatric cases for presentation in a factorial 2 × 2 design. Sixth-year medical students (N = 80) were randomly assigned to one of four groups that differed with regard to how the case histories were delivered to them (chronological order versus key information mentioned first) and direction of information exchange (unidirectional versus a clarifying dialogue). The receivers of the handover were asked to write a report of the cases and suggest the best diagnosis. Dependent variables were information quality of the written report (Information score), quality of the diagnosis (Diagnostic accuracy score) and the time it took to deliver the written handover case report (Handover report duration). Seen through the lens of cognitive load theory, allowing a clarifying dialogue at handover, and thus optimizing the germane cognitive load, significantly increased the Information score (p < 0.0005), Diagnostic accuracy score (< 0.05) and Handover report duration (p < 0.001).

Asunto(s)

Pase de Guardia , Pediatría , Estudiantes de Medicina , Niño , Humanos

RESUMEN

In a previous study, we established that compared to a written case, a video case enhances observable cognitive processes in the verbal interaction in a postgraduate problem-based learning format. In a new study we examined non-observable cognitive processes using a stimulated recall procedure alongside a reanalysis of the data from the first study. We examined the development of shared cognition as reflected in collaborative concept link formation, an approach to connecting a series of concepts related to a particular topic. Eleven paediatric residents were randomly allocated to two groups. After both analysing the same written case vignette, one group watched a video of the case in the vignette and the other group read a written description of the video. Both groups then reanalysed the vignette. After the group sessions, time-logged transcripts were made of the verbal interaction in both groups and all residents individually took part in a stimulated recall procedure. Causal reasoning concept links were labelled as individual or collaborative depending on whether they originated from individual residents or were directly elicited by verbal utterances from others. The video led to a significantly increased frequency ratio (after intervention: before intervention) of collaborative concept links but did not affect the frequency of individual concept links. This novel process approach to chronological registration of concept link formation offered additional evidence that shared cognition by means of co-elaboration of concept formation is stimulated by the use of patient video recordings in small group learning.

Asunto(s)

Competencia Clínica/estadística & datos numéricos , Educación de Postgrado en Medicina , Internado y Residencia/estadística & datos numéricos , Aprendizaje , Registros Médicos Orientados a Problemas , Pediatría/educación , Facultades de Medicina , Estudiantes de Medicina , Grabación en Video , Adulto , Cognición , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estadística como Asunto

RESUMEN

OBJECTIVE: To investigate whether adding a brief video case instead of an equivalent written text improves the cognitive and metacognitive processes (data exploration, theory building, theory evaluation and metareasoning) of residents in problem-based learning. SUBJECTS: Paediatric residents. SETTING: Department of Paediatrics, Arhus University Hospital, Skejby, Denmark. METHODS: Eleven residents were each assigned to 1 of 2 groups. Both groups analysed an identical vignette of a patient case. Immediately after this, 1 group watched a 2.5-minute video recording and the other group read a description of the same video recording. The groups then reanalysed the case. Thinking processes were tapped by recording and analysing the verbal group interaction. The frequencies of clause categories were calculated and compared using chi-square tests. RESULTS: The verbal interaction showed statistically significant improvements in data exploration, theory building and theory evaluation after the video case. CONCLUSIONS: The greater improvement in clause frequency after the video case compared with the equivalent text suggests an improvement in data exploration, theory building and theory evaluation. The use of patient video recordings may be a valuable supplement to postgraduate paediatric training, particularly pertaining to movement disorders.

Asunto(s)

Educación de Postgrado en Medicina/métodos , Internado y Residencia/métodos , Pediatría/educación , Aprendizaje Basado en Problemas/métodos , Materiales de Enseñanza , Dinamarca , Humanos , Grabación en Video

RESUMEN

Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.

Asunto(s)

ADN Polimerasa Dirigida por ADN/genética , Esclerosis Cerebral Difusa de Schilder/enzimología , Esclerosis Cerebral Difusa de Schilder/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genética , Edad de Inicio , Niño , Análisis Mutacional de ADN , ADN Polimerasa gamma , Discapacidades del Desarrollo/enzimología , Discapacidades del Desarrollo/genética , Esclerosis Cerebral Difusa de Schilder/fisiopatología , Transporte de Electrón/genética , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Variación Genética/genética , Homocigoto , Humanos , Lactante , Hepatopatías/enzimología , Hepatopatías/genética , Masculino , Mitocondrias/enzimología , Mitocondrias/genética , Músculo Esquelético/enzimología , Músculo Esquelético/fisiopatología , Estado Epiléptico/enzimología , Estado Epiléptico/genética

RESUMEN

OBJECTIVE: To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome. PATIENTS: Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal. METHODS: Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs. RESULTS: The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger. CONCLUSION: The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.

Asunto(s)

Desarrollo Óseo , Anomalías Craneofaciales/patología , Anomalías Dentarias/patología , Adolescente , Determinación de la Edad por el Esqueleto , Anodoncia/patología , Cefalometría , Niño , Mentón/anomalías , Epífisis/anomalías , Femenino , Dedos/anomalías , Trastornos del Crecimiento/patología , Humanos , Discapacidad Intelectual , Masculino , Maxilar/anomalías , Microcefalia/patología , Nariz/anomalías , Odontogénesis , Silla Turca/anomalías , Base del Cráneo/anomalías , Síndrome , Raíz del Diente/anomalías , Muñeca/anomalías

RESUMEN

A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular atrophy should be considered in the differential diagnosis of reduced fetal movements.

Asunto(s)

Artrogriposis , Atrofias Musculares Espinales de la Infancia , Artrogriposis/diagnóstico , Artrogriposis/etiología , Artrogriposis/genética , Diagnóstico Diferencial , Femenino , Movimiento Fetal/genética , Humanos , Recién Nacido , Embarazo , Atrofias Musculares Espinales de la Infancia/complicaciones , Atrofias Musculares Espinales de la Infancia/diagnóstico , Atrofias Musculares Espinales de la Infancia/genética

Asunto(s)

Síndrome de Angelman/tratamiento farmacológico , Síndrome de Angelman/genética , Anticonvulsivantes/uso terapéutico , Adolescente , Niño , Preescolar , Deleción Cromosómica , Estudios de Cohortes , Dinamarca , Humanos , Estudios Retrospectivos

RESUMEN

Removal of the oxcarbazepine metabolite 10-hydroxycarbazepine (MHD) by plasmapheresis was evaluated during a series of six plasmaphereses of a 13-year-old boy with Rasmussen encephalitis. Plasmapheresis was performed after steady-state concentrations of MHD had been achieved with a dose of 2550 mg oxcarbazepine daily. The mean amount of MHD removed per plasmapheresis was 78.9 mg (SD: 6.0 mg), representing 3% to 4% of the daily oxcarbazepine dose and approximately 5% to 6% of body stores of MHD. The mean steady-state trough MHD concentration was 33.3 mg/L (SD: 1.8 mg/L), and this was remarkably stable during the entire plasmapheresis period. The serum concentration of MHD was only mildly reduced by the procedure. The areas under the concentration curve of MHD on the first and sixth day of plasmapheresis were 99% and 94%, respectively, of the pre-plasmapheresis values. The results are in agreement with studies on other anticonvulsant medications (carbamazepine, valproic acid, phenobarbital, and phenytoin), indicating that minor fractions (2% to 10%) of body stores of these drugs are depleted during plasmapheresis. The authors conclude that it is unnecessary to adjust the oxcarbazepine dosage when performing single-volume plasma exchanges or even multiple exchanges during an extended period. It is further proposed that plasmapheresis is unlikely to be of therapeutic benefit in the treatment of an oxcarbazepine overdose.

Asunto(s)

Anticonvulsivantes/farmacocinética , Carbamazepina/análogos & derivados , Carbamazepina/farmacocinética , Encefalitis/sangre , Plasmaféresis/métodos , Adolescente , Electroencefalografía , Encefalitis/terapia , Humanos , Masculino , Oxcarbazepina , Resultado del Tratamiento

RESUMEN

Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.

Asunto(s)

Anomalías Múltiples/genética , Cromosomas Humanos Par 18/genética , Adolescente , Niño , Mapeo Cromosómico , Consanguinidad , Femenino , Genes Recesivos/genética , Heterogeneidad Genética , Marcadores Genéticos/genética , Trastornos del Crecimiento/genética , Humanos , Discapacidad Intelectual/genética , Escala de Lod , Masculino , Microcefalia/genética , Linaje , Síndrome

RESUMEN

Three girls, two aged 12 years and one aged 17 years with refractory localization-related epilepsy were treated on an add-on basis with tiagabine. At dosages 22.5-30 mg/day (0.45-0.57 mg/kg/day) longstanding non-convulsive status epilepticus was noted in all three patients. The events of non-convulsive status epilepticus subsided following reduction in tiagabine dosages. In two cases, tiagabine was withdrawn, whereas it was continued at a lower dosage in one case. This is the first report of non-convulsive status epilepticus provoked by tiagabine in adolescent patients.

Asunto(s)

Anticonvulsivantes/efectos adversos , Agonistas del GABA/efectos adversos , Inhibidores de la Captación de Neurotransmisores/efectos adversos , Ácidos Nipecóticos/efectos adversos , Estado Epiléptico/inducido químicamente , Adolescente , Anticonvulsivantes/administración & dosificación , Niño , Epilepsia/tratamiento farmacológico , Femenino , Agonistas del GABA/administración & dosificación , Humanos , Ácidos Nipecóticos/administración & dosificación , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamiento farmacológico , Tiagabina

RESUMEN

To evaluate the usefulness of an objective structured clinical examination (OSCE) for identifying weaknesses of the educational program and for providing feedback to trainees in paediatrics an 8-station OSCE was given. Ten residents on different levels of training participated. Stations covered a wide spectrum of clinical situations and included three video-recordings of patients. Skills in history-taking, examination, listing of differential diagnoses, planning of work-up as well as in communication and counselling were assessed. Verbal as well as written feedback was provided to all the trainees. In five trainees skills in examination were relatively weak, and subsequently it was possible to implement improvements in the educational program. Strengths and weaknesses of the educational program can be identified, but the benefits of the OSCE should be balanced with the extra workload and logistical difficulties.

Asunto(s)

Educación Médica Continua , Evaluación Educacional/métodos , Pediatría/educación , Competencia Clínica , Dinamarca , Educación Médica Continua/normas , Estudios de Evaluación como Asunto , Humanos , Internado y Residencia/normas , Encuestas y Cuestionarios

RESUMEN

We present two new cases with infantile-onset megalencephaly and a characteristic magnetic resonance imaging (MRI) pattern including severe white-matter abnormalities and subcortical cysts. In one of the patients MRI at the early age of 9 months showed pronounced white matter swelling. In another patient the swelling of white matter was less pronounced at 12 years of age.

Asunto(s)

Edema Encefálico/diagnóstico , Enfermedad de Canavan/diagnóstico , Quistes/diagnóstico , Vacuolas , Edema Encefálico/genética , Edema Encefálico/patología , Enfermedad de Canavan/genética , Enfermedad de Canavan/patología , Corteza Cerebral/patología , Preescolar , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Quistes/genética , Quistes/patología , Estudios de Seguimiento , Genes Recesivos , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X , Vacuolas/patología

RESUMEN

Benign paroxysmal torticollis occurs in infancy and early childhood. The etiology is unknown, although a vasomotor labyrinthine pathophysiology is possible. We report four cases with onset at ages of two to six months of recurrent episodes of torticollis and discomfort persisting between three hours and seven days. In three cases the torticollis was alternating. Photography or videorecording made by the parents during the attacks were helpful for the diagnosis in three cases. MRI may in some cases be necessary to rule out a space occupying lesion in the posterior fossa.

Asunto(s)

Tortícolis , Femenino , Humanos , Lactante , Masculino , Recurrencia , Tortícolis/diagnóstico , Tortícolis/fisiopatología

RESUMEN

A 5-week-old boy became rigid and developed cardiac arrest after receiving succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy demonstrated no neurogenic features and numerous cytoplasmic bodies, suggesting the possibility of congenital myopathy with cytoplasmic bodies. However, molecular analysis revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene, suggesting that the patient had Werdnig-Hoffmann disease. We recommend that every patient with congenital cytoplasmic body myopathy be tested for SMN gene deletion.

Asunto(s)

Cuerpos de Inclusión/patología , Enfermedades Musculares/patología , Proteínas del Tejido Nervioso/genética , Atrofias Musculares Espinales de la Infancia/patología , Biopsia , Proteína de Unión a Elemento de Respuesta al AMP Cíclico , Resultado Fatal , Eliminación de Gen , Humanos , Cuerpos de Inclusión/ultraestructura , Lactante , Masculino , Enfermedades Musculares/genética , Proteínas de Unión al ARN , Proteínas del Complejo SMN , Atrofias Musculares Espinales de la Infancia/genética

RESUMEN

Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also been fed honey. Supportive care led to complete recovery. The serum was positive for C. botulinum toxin type A-F (mouse toxin neutralization assay). A strain of C. botulinum producing toxin type A and E was identified in the stool. C. botulinum was identified in a jar of honey of the same brand as the honey fed to the patient.

Asunto(s)

Toxinas Botulínicas/análisis , Botulismo/microbiología , Clostridium botulinum/aislamiento & purificación , Trastornos del Movimiento/microbiología , Botulismo/complicaciones , Botulismo/epidemiología , Botulismo/fisiopatología , Dinamarca/epidemiología , Miel/microbiología , Humanos , Lactante , Masculino

RESUMEN

The unusual presentation of juvenile onset metachromatic leukodystrophy (MLD) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with MLD to identify the prevalence and type of recurrent seizures during the first 2 years of the disease. Five of 17 patients (29%) had developed recurrent seizures within 12 months of the onset of symptoms, and one patient was lost to follow-up. By 24 months after onset of symptoms, 5 patients were lost to follow-up, and 6 of the remaining 13 patients (46%) had developed recurrent seizures. In all, 7 patients, 4 with late infantile-onset and 3 with juvenile-onset disease, developed recurrent seizures. Four patients, including 3 with juvenile-onset disease had complex partial seizures. We conclude that recurrent seizures are common in MLD and may occur at any stage of the disease, particularly in patients with juvenile onset. Generalized seizures are more frequent in patients with late infantile-onset, whereas partial seizures are more common in those with juvenile-onset disease.

Asunto(s)

Epilepsia Parcial Compleja/diagnóstico , Leucodistrofia Metacromática/diagnóstico , Convulsiones/diagnóstico , Niño , Preescolar , Electroencefalografía , Epilepsia Parcial Compleja/clasificación , Femenino , Estudios de Seguimiento , Humanos , Lactante , Leucodistrofia Metacromática/clasificación , Masculino , Examen Neurológico , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Convulsiones/clasificación

RESUMEN

A review is presented of factors influencing the prognosis for remaining free of seizures after withdrawal of anti-epileptic drugs. Adverse factors are found to be: a) being 16 years or older; b) having had many seizures after starting anti-epileptic drug treatment; c) a history of myoclonic seizures; d) a history of generalised tonic-clonic seizures; e) polytherapy; and f) spike and wave paroxysms in the EEG. An EEG before withdrawal of antiepileptic drugs is only required in patients with primary generalised epilepsy. The social situation and individual wishes of the patient and relatives should be considered when withdrawal of anti-epileptic drugs is being planned. Continued treatment until the patient has remained seizure-free for five years will decrease the risk of relapse. In children, anti-epileptic drugs may be withdrawn after three years of treatment, if no adverse factors are present. Nothing definite is known concerning the withdrawal procedure. A stepwise, slow withdrawal with a duration of six months or more is recommended, as this reduces the risk of relapse.

Asunto(s)

Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Adolescente , Anticonvulsivantes/efectos adversos , Niño , Epilepsia/diagnóstico , Humanos , Pronóstico

RESUMEN

A case of subcutaneous fat necrosis (SFN) is presented. The infant developed late onset hypercalcaemia of severe degree. Calcitonin failed to normalize the hypercalcaemia. Glucocorticoids and withdrawal of dietary calcium and vitamin D are the treatment of choice. Like hypercalcaemia in association with other granulomatous diseases, SFN is possibly secondary to locally produced 1,25-dihydroxy-cholecalciferol. Our results were not able to confirm this theory. Infants with SFN should have calcium levels monitored closely for months.

Asunto(s)

Necrosis Grasa/complicaciones , Hipercalcemia/etiología , Necrosis Grasa/diagnóstico , Necrosis Grasa/terapia , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Lactante , Recién Nacido , Pierna/diagnóstico por imagen , Masculino , Radiografía

RESUMEN

A case of septicaemia in a seven-day-old infant with a gentamicin-resistant strain of Enterobacter cloacae prompted an epidemiological survey in a neonatal unit. Another 18 patients harboured gentamicin-resistant Enterobacteriaceae without symptoms. Control of the outbreak was achieved by cohort nursing, strict hygiene and reduction of aminoglycoside consumption by 50%. Efficiency of the measures was monitored by weekly faecal samples from all patients. All strains produced the aminoglycoside modifying enzyme AAC(3)II. The resistance was plasmid-mediated.

Asunto(s)

Brotes de Enfermedades , Farmacorresistencia Microbiana , Infecciones por Enterobacteriaceae/inmunología , Gentamicinas/inmunología , Unidades de Cuidado Intensivo Neonatal , Estudios de Cohortes , Dinamarca/epidemiología , Infecciones por Enterobacteriaceae/tratamiento farmacológico , Infecciones por Enterobacteriaceae/epidemiología , Gentamicinas/uso terapéutico , Humanos , Recién Nacido , Prevalencia

RESUMEN

Seven cases with childhood ovarian tumors are presented. All underwent an ultrasound scan which gave the the preliminary diagnosis of ovarian tumor. Treatment differs according to the status of the child and whether malignity is involved. The numerous differential diagnoses must be kept in mind. The management of children with an unexplained abdominal mass should include an ultrasound scan.

Asunto(s)

Neoplasias Ováricas/diagnóstico por imagen , Factores de Edad , Niño , Preescolar , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Ovariectomía , Embarazo , Ultrasonografía Prenatal