Involvement of parents in critical incidents in a neonatal-paediatric intensive care unit.

BACKGROUND: With more liberal visiting hours in paediatric intensive care practice, parents' presence at the bedside has increased. Parents may thus become involved in critical incidents as contributors or detectors of critical incidents or they may be affected by critical incidents. METHODS: Voluntary, anonymous, non-punitive critical incident reporting system. Parents' involvement in critical incidents has been evaluated retrospectively (January 2002 to August 2007). The reports were analysed regarding involvement of parents, age of child, unit (paediatric intensive care or intermediate neonatal nursery), critical incident severity, critical incident category, actual or potential harm to patient and/or parent (minor, moderate, major), delay between the critical incident and its detection, and implemented system changes. RESULTS: Overall, 2494 critical incidents have been reported. There were 101 critical incidents with parental involvement: parents as contributors to critical incident (18; 0.7%), parents discovering a critical incident (11; 0.4%), parents affected by critical incident (72; 2.9%). The most vulnerable categories regarding contribution and detection were drugs, line/drain disconnection, trauma and hygiene. Ten critical incidents precipitated by parents were of moderate severity and seven of potential major severity (six line/drain disconnections). The majority of the events (six) detected by parents were of potential moderate severity and four were of major severity. CONCLUSION: Because of their presence at the bedside, parents in the paediatric intensive care unit are inevitably involved in safety issues. It is not the parents' duty to guarantee the safety for their children, but parents should be encouraged to report anything that worries them. Only an established safety culture allows parents to articulate their concerns.

Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.

Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings. The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found. The importance of comprehensive multidisciplinary assessment is emphasized.

Fetal varicella syndrome: disruption of neural development and persistent inflammation of non-neural tissues.

Primary varicella zoster virus (VZV) infection during pregnancy is rare. If it occurs between the 8th and 20th week of gestation, fetal varicella syndrome results in 1-2% of the fetuses. We report about a varicella infection that affected a pregnant mother in the 12th week of gestation. At 33 weeks, a premature girl was born with destruction of neurons in spinal cord, spinal ganglia and plexus myentericus, and secondary developmental disturbance including mummification of one arm and segmental intestinal atresia. The brain did not show any abnormalities. However, VZV DNA could be detected by PCR in tissues from the brain and spinal ganglia. Chronic necrotizing inflammation was found in the placenta, fetal membranes, and one ovary. These locations showed nuclear inclusions which by in-situ-hybridization were proven to be VZV derived. This case demonstrates that in the fetal age, 'neurotropism' of VZV signifies severe destruction but not necessarily persistent inflammation of neural tissue. However, due to the inefficient fetal immune system, inflammation can go on for weeks, preferentially in non-neural tissues.

[The value of bronchoalveolar lavage in the clarifying of HIV-associated lung diseases]. / Stellenwert der bronchoalveolären Lavage in der Abklärung HIV-assoziierter Lungenerkrankungen.

BACKGROUND AND OBJECTIVE: Examination of sputum is the first diagnostic step in the evaluation of HIV-infected patients with pulmonary complications. We were interested in the indications and the diagnostic value of subsequent bronchoscopy and bronchoalveolar lavage (BAL) and especially the importance of so-called atypical bacteria. PATIENTS AND METHODS: We analysed 59 consecutive BALs performed in HIV positive patients with pulmonary symptoms (48 men, 11 women, age 22-70 years, 36 in stage C). Culture for Legionella pneumophila and PCR analysis for Mycoplasma pneumoniae and Chlamydia pneumoniae were done in all cases. RESULTS: In 50 patients (85%) there was a clear indication for performing a BAL because either an infectious agent could no be detected on sputum examination (n = 36), or the patient's sputum production was insufficient (n = 14). In 30 (60%) of these cases bronchoscopy and BAL were able to establish a diagnosis. The most frequent agent was Pneumocystis carinii (n = 12). In contrast, BAL was able to establish coinfection in patients with positive sputum samples in one case only. So-called atypical bacteria were not found. CONCLUSION: In patients with a clear indication, especially a non-diagnostic sputum examination, BAL plays an important role in the work-up of HIV-associated pulmonary disease. The search for so-called atypical bacteria yields unsatisfactory results.

[Heart transplantation: life-long biopsies for prevention of rejection?]. / Herztransplantation: Lebenslänglich Biopsien zur Vermeidung einer Abstossung?

The transplantation of a heart restores the quality of life and productivity to patients who have experienced severe loss of contractility of heart muscle during an infection or as a result of long-lasting chronic heart disease. Monitoring for allograft rejection requires expensive procedures whereby, with catheterisation of the right heart, endomyocardial biopsies are retrieved. Evaluation by the pathologist uses a standardised diagnostic scheme which is in use worldwide. We have tested the interobserver agreement in a very heterogeneous group of examining pathologists and found moderate agreement with a kappa value of 0.52. The development of other methods to improve and even to replace invasive procedures for monitoring acceptance/rejection of a cardiac allograft requires interdisciplinary cooperation.

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.

A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.

Assessing gestational age from histology of fetal skin: an autopsy study of 379 fetuses.

OBJECTIVE: To develop guidelines for recognizing stages of fetal skin development to allow objective assessment of gestational age. METHODS: Three hundred seventy-nine human fetuses with known gestational ages of 12-30 weeks were examined at autopsy. Skin samples were taken from the abdomen. Two hundred fifty samples constituted a reference to establish histologic criteria from the development of skin appendages, hair, and apocrine and eccrine glands. One hundred twenty-nine additional skin samples were evaluated as a test set by the same investigators without knowledge of the condition of pregnancy or gestational age. RESULTS: The assessment of 250 skin samples allowed a description of those features that are suddenly discernible and can be used to determine gestational age as having reached or passed weeks 14, 16, 18, 20, 23, 25, and 29 or 30 (after the last menstrual period). Two examiners assessed these histologic features in a random and masked manner in the 129 skin samples of the test set. A 97% agreement with the actual gestational age of the fetus was achieved. CONCLUSION: Skin development is a continuous process, but some discrete patterns are strongly related to fetal age, are easy to recognize, and are insensitive to artifacts. In our institution, they have become indispensable in evaluating fetal and neonatal pathology.

Cardiac regression sequence: reversal of blood flow is diagnostic but not causative in an acardiac fetus.

In 1% of monozygotic twin pregnancies, one fetus is without a heart; blood circulation is maintained by an accompanying "pump" twin. Such an acardiac condition is usually diagnosed on the basis of further malformations visible by ultrasonography. We describe a monoamniotic twin pregnancy with early growth reduction in one twin. His skeleton and the shape of the body including the head were normal; however, heart, lungs and liver were absent. "Death of one twin" had thus been the diagnosis before termination of pregnancy. Studies of the blood flow in acardiac fetuses by several investigators have shown that perfusion of a heartless fetus is opposite to the normal direction and the term "twin reversed arterial perfusion sequence" has been proposed. While "reversed arterial perfusion" might be a key diagnostic element for the ultrasonographic examination of the acardiac condition, it need not necessarily be the primary cause. A lethal defect in early heart development is much more likely to be the primary event which is temporarily rescued by the presence of the accompanying "pump" twin. A term like "cardiac regression sequence" would be much better suited to describe the condition.