Marcus Krüger

Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome

Neonates with Down syndrome can present with a haematological disorder called transient abnormal myelopoiesis (TAM). While TAM is usually a self-limiting disease, patients with severe complications such as hydrops fetalis, cardiorespiratory failure and liver fibrosis have been described. Here, we present five consecutive neonates with trisomy 21 and TAM, four of whom were critically ill and were therefore treated with cytosine-arabinoside. All five patients survived. Conclusion:severely affected neonates with Down syndrome and transient abnormal myelopoiesis might benefit from early cytostatic treatment with cytosine-arabinoside.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology.

Postexercise albuminuria in children with different duration of type-1 diabetes mellitus

About 30% of diabetic patients develop progressive renal failure. We studied albumin, IgG, and transferrin excretion during exercise in diabetic children without signs of nephropathy to investigate proteinuria under these conditions: 39 patients with insulin-dependent diabetes mellitus and 21 healthy children undertook a bicycle exercise test. Albuminuria measured by nephelometry was calculated as the albumin excretion rate (AER) and albumin-to-creatinine ratio before and after exercise. The diabetic group was divided into three subgroups according to disease duration (DI<5 years, DII 5–10 years, DIII>10 years). No significant difference in metabolic control (hemoglobin A1c) was detected between the diabetic groups (median hemoglobin A1c: DI 7.2%, DII 7.6%, DIII 8.6%). There was no increase in AER in the healthy children after exercise. Before exercise the diabetic groups had an AER similar to controls. No significant increase in albuminuria after exercise was seen in group DI. Both groups with a disease duration of more than 5 years had a significant increase in albuminuria [median before/after: DII 7.8/16.7 (P<0.05), DIII 0/57.9 (P<0.05) ώg/min per 1.73 m2). Of these patients, 43% also had a measurable urinary excretion of IgG and transferrin, indicating structural glomerular damage. There was no correlation of albuminuria and parameters of metabolic control or renal function. We conclude that in diabetic children an exercise test unveils albuminuria in certain patients, while their AER may be normal at rest.

Selective unilateral lung ventilation in preterm infants with acquired bullous emphysema: A series of nine cases†

Immature lungs of preterm infants are particularly prone to overdistension from mechanical ventilation or continuous positive airway pressure. In these infants a localized pulmonary emphysema (PE) can develop. Conventional therapy regimens to resolve this process sometimes fail and especially in the case of bullous emphysema (BE) invasive procedures such as surgical resection of the affected lobe ultimately may be required. In the past few years we have applied selective one‐sided lung ventilation, a nearly forgotten therapeutic option, in these infants with acquired BE.

Lemierre syndrome associated with 12th cranial nerve palsy—A case report and review

Since the widespread availability and use of antibiotics the prevalence of Lemierre syndrome (L.S.) has decreased. It is a well-described entity, consisting of postanginal septicaemia with thrombophlebitis of the internal jugular vein with metastatic infection, most commonly in the lungs. The most common causative agent is a gram-negative, non-spore-forming obligate anaerobic bacterium, Fusobacterium necrophorum (F.n.). We describe the unusual clinical features of a 12-year-old boy with Lemierre syndrome with isolated hypoglossal nerve palsy - the latter symptom is an extremely rare manifestation of this disease.

Work-Time Distribution of Physicians at a German University Hospital

BACKGROUND The effective utilization of staff resources is of decisive importance for the adequate, appropriate, and economical delivery of hospital services. The goal of this study was to determine the distribution of working time among doctors in a German university hospital-in particular, in terms of type of activities and time of day. METHODS The distribution of working time was determined from 14-day samples taken in seven clinical departments of the Medical Center-University of Freiburg. In each 14-day sample, the activities being carried out at multiple, randomly chosen times were recorded. RESULTS A total of 250 doctors (participation rate: 83%) took part in the study. A total of 20 715 hours of working time was analyzed, representing twelve years of full-time employment. Overall, 46% of working time in the inpatient sector was spent in direct contact with patients, with relevant differences among the participating clinical departments: for instance, the percentage of time taken up by patient contact was 35% in pediatrics and 60% in oral and maxillofacial surgery. Patient contact was highest (over 50% overall) in the period 8 a.m. to 12 noon. CONCLUSION The amount of working time taken up by activities other than direct patient contact was found to be lower than in previous studies. It remains unclear what distribution of working time is best for patient care and whether it would be possible or desirable to increase the time that doctors spend in direct contact with patients.

Self-perceived attitudes toward interprofessional collaboration and interprofessional education among different health care professionals in pediatrics.

Interprofessional education (IPE) is the basis for interprofessional collaboration (IPC) in health care systems. It has beneficial effects for both patients and health care professionals. IPC is paramount for adequate care of patients and their families, especially in pediatrics. To determine the attitudes of medical doctors (n=121), nurses (n=15), psychologists (n=14), and social workers (n=19) toward IPE and IPC in a tertiary pediatric university teaching hospital, as well as the inpatient and outpatient settings in pediatrics, we developed a questionnaire with 21 items in four categories based on established questionnaires. All participants worked as part of interprofessional teams, and the overwhelming majority valued IPC highly. Most competencies important for IPC were acquired on the job. There was a substantial lack of interprofessional education, especially for medical doctors and psychologists. IPE still needs to be established as part of the undergraduate curriculum at German universities.

Audience-response systems for evaluation of pediatric lectures--comparison with a classic end-of-term online-based evaluation.

Aim: Course evaluations are often conducted and analyzed well after the course has taken place. By using a digital audience response system (ARS), it is possible to collect, view and discuss feedback during or directly following a course or lecture session. This paper analyzes a student evaluation of a lecture course with ARS to determine if significant differences exist between the results of the ARS lecture evaluation and those of the online evaluation at the end of the semester. In terms of the overall evaluation, consideration is given to the level of students’ prior knowledge, the presentation of the lecture material by the lecturers and the relevance of the lecture topic for students. Method: During the 2011-12 winter semester, the lecture on Pediatrics at the Freiburg Center for Pediatric and Adolescent Medicine (Zentrum für Kinder- und Jugendmedizin (ZKJ) Freiburg) was evaluated using ARS. Thirty-four lectures were evaluated by an average of 22 (range 8-44) students, who responded to four questions each time an evaluation took place. Results: On a 6-point Likert scale (1=very good to 6=deficient), the students rated their level of preparedness with a mean of 3.18, the presentation of the lecture with 2.44, and the relevance of the lecture topic with 2.19. The overall evaluation of the lecture course by means of ARS resulted in 2.31. The online evaluation conducted at the end of the semester yielded a score of 2.45. Highly significant correlations were seen between the results of the ARS for the overall evaluation, assessment of prior knowledge, lecture presentation, and the estimated relevance of the lecture topic. Conclusion: The use of ARS is suitable for immediate evaluation of lectures, in particular regarding timely feedback for the individual lecturerlecturers. In comparison with an end-of-term evaluation, ARS yielded a better assessment.

Note of caution for the use of sodium nitroprusside in neonatal hypertension

Sirs, Neonatal hypertension may present as an emergency requiring intensive care treatment and the use of multiple antihypertensive drugs, including sodium nitroprusside as described in this Journal by Cachat et al. [1]. While many clinical details on diagnostic and therapeutic measures, including dosage, of most drugs are provided, administration of sodium nitroprusside over 5–6 days is not described in detail, despite the immediate response of the patients’ blood pressure. Therefore, we would like to add a note of caution. Sodium nitroprusside is a very potent vasodilator and thus requires correct administration, dosage, and close blood pressure monitoring, preferably by indwelling arterial catheter [2]. Furthermore, due to the risk of cyanide toxicity, concomitant administration of sodium thiosulfate is strongly recommended to avoid serious side effects [3, 4, 5]. Patients with hypoalbuminemia, such as that described by Cachat et al. [1], have been associated with an increased risk [6]. References