Peer-led pediatric resuscitation training: effects on self-efficacy and skill performance.

BACKGROUND: Peer-led basic life support training in medical school may be an effective and valued way of teaching medical students, yet no research has been conducted to evaluate the effect on the self-efficacy of medical students. High self-efficacy stimulates healthcare professionals to initiate and continue basic life support despite challenges. METHODS: A randomized controlled trial, in which medical students received pediatric basic life support (PBLS) training, provided by either near-peer instructors or expert instructors. The students were randomly assigned to the near-peer instructor group (n = 105) or expert instructor group (n = 108). All students received two hours of PBLS training in groups of approximately 15 students. Directly after this training, self-efficacy was assessed with a newly developed questionnaire, based on a validated scoring tool. A week after each training session, students performed a practical PBLS exam and completed another questionnaire to evaluate skill performance and self-efficacy, respectively. RESULTS: Students trained by near-peers scored significantly higher on self-efficacy regarding all aspects of PBLS. Theoretical education and instructor feedback were equally valued in both groups. The scores for the practical PBLS exam and the percentage of students passing the exam were similar in both groups. CONCLUSIONS: Our findings point towards the fact that near-peer-trained medical students can develop a higher level of PBLS-related self-efficacy than expert-trained students, with comparable PBLS skills in both training groups. The exact relationship between peer teaching and self-efficacy and between self-efficacy and the quality of real-life pediatric resuscitation should be further explored. TRIAL REGISTRATION: ISRCTN, ISRCTN69038759 . Registered December 12th, 2019 - Retrospectively registered.

The influence of anorectal malformations on fertility: a systematic review.

PURPOSE: This systematic review aims to give an overview of available evidence concerning the influence of anorectal malformations (ARM) on fertility. METHODS: We conducted a search in PubMed, EMBASE and Cochrane Library conformed to the PRISMA standards. All studies reporting on fertility and ARM were included. RESULTS: 2,905 studies were identified. Based on title, abstract and full text, nine articles on 429 patients remained to answer the research question. Childbirth rate was the only reported outcome parameter to describe fertility. An overall childbirth rate of 27 % (range 0-57 %) was found. Mean age at time of study ranged from 23 to 35 years. There was no statistical significant difference in childbirth rate between female and male patients, based on seven studies (p = 0.45). Patients with a more complex type of ARM (imperforated anus without fistula, rectourethral bulbar and prostatic fistulas, rectobladderneck fistulas and cloacal malformations) had a lower childbirth rate compared to healthy controls, whereas in patients with a less complex ARM (rectoperineal or rectovestibular fistula) the childbirth rate was similar to healthy controls. Patients with a more complex type of ARM had a significant lower childbirth rate than patients with a less complex type of ARM (18 vs 47 %, respectively) (p = 0.0001). When further dividing these patients by gender, this difference was only seen in female patients (p = 0.04). CONCLUSION: In patients with a more complex type of ARM a lower childbirth rate was found compared to healthy controls and patients with a less complex type of ARM. The latter was only seen in female patients. However, conclusions concerning fertility in ARM patients have to be taken with caution due to limited quality of the studies. Further investigation is recommended.

Sevoflurane therapy for life-threatening asthma in children.

BACKGROUND: Asthma is a common disease in children and often develops early in life. This multicentre retrospective case series describe the use and effectiveness of sevoflurane inhalation therapy in a series of children with severe asthma in the paediatric intensive care unit (PICU). METHODS: Seven children ranging from 4 to 13 yr of age admitted to the PICU of two tertiary care hospitals in the Netherlands were included. They all were admitted with the diagnosis of severe asthma requiring invasive mechanical ventilation and were treated with sevoflurane inhalation therapy. RESULTS: The median (range) Pco2 level at the start, after 2 h, and at the end of sevoflurane treatment were 14 (5.1-24.8), 9.8 (5.4-17.0), and 6.2 (4.5-11.4) kPa (P=0.05) while the median (range) pH was 7.02 (6.97-7.36), 7.18 (7.04-7.35), and 7.43 (7.15-7.47) kPa (P=0.01), respectively. The median (range) peak pressure values declined from 30 (23-56) to 20.4 (14-33) cm H2O (P=0.03). No severe adverse effects besides hypotension, with sufficient response to norepinephrine treatment, were seen. CONCLUSIONS: Sevoflurane inhalation corrects high levels of Pco2 and provides clinical improvement in mechanically ventilated children with life-threatening asthma who fail to respond to conventional treatment.

Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically heterogeneous and shows clinical overlap with other RASopathies. These syndromes are caused by mutations in a variety of genes leading to dysregulation of the RAS-MAPK pathway: PTPN11, KRAS, SOS1, RAF1, CBL, SHOC2, NRAS, BRAF, MAP2K1, MAP2K2, HRAS, NF1 and SPRED1. In this study, we conduct a genotype-phenotype analysis of 33 patients with a clinical diagnosis of NS without a PTPN11 mutation. Mutation analysis of the genes involved in RASopathies was performed, except for NF1 and SPRED1. In 14 (42%) NS patients, a mutation was found, 7 (21%) had a mutation in SOS1, 3 (9%) in RAF1 and 1 (3%) in KRAS, MAP2K2, BRAF and SHOC2 each. The phenotype of these mutation-positive cases corresponded to that described in the literature. In the cases with a BRAF and MAP2K2 mutation, the diagnosis cardio-facio-cutaneous syndrome was made. The patient with the SHOC2 mutation had features compatible with 'Noonan-like syndrome with loose anagen hair'. Three major clinical features of NS - a typical face, short stature and a pulmonary valve stenosis - were less frequently present in the group without a mutation. Missense mutations in genes encoding proteins of the RAS-MAPK pathway cause NS. The 3 major clinical features of NS were less frequently present in the mutation-negative patients, which stresses the importance of the syndrome-specific symptoms of the face, heart and short stature in NS. However, all mutation-negative cases met the NS criteria, indicating that the involvement of novel genes is to be expected.

Neurological symptoms in children with intussusception.

AIM: The classical combination of abdominal pain, vomiting, rectal blood loss and a palpable abdominal mass is only present in a minority of children with intussusception. Neurological signs and symptoms have been described, but are not a well understood phenomenon. We performed a retrospective study to ascertain the frequency and nature of these symptoms and to describe the characteristics of the patients presenting in this atypical way. METHODS: The records of 58 children presenting with intussusception from 2003 to 2008 were reviewed for abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment. RESULTS: In 10 out of 58 patients (17%), one or more neurological symptoms were recorded at presentation, with lethargy being the most frequent, followed by hypotonia and fluctuating consciousness. The patients with neurological abnormalities were significantly younger and presented with a shorter duration of symptoms. Therapy was more invasive, although not statistically significant, in this patient category. CONCLUSION: Intussusception should be considered in the differential diagnosis in young children presenting with lethargy, hypotonia and/or sudden alterations of consciousness even in the absence of the classical symptoms of intussusception.

Hemophilia a and spinal epidural hematoma in children.

Hemophilia A is an X-linked bleeding disorder, caused by deficient or defective blood coagulation factor VIII. The most characteristic symptoms of the severe forms of hemophilia A are joint and muscle bleeds. Intracranial hemorrhage occurs only in 3-10% of the patients. Spinal epidural hematomas are rarely seen. We describe a 13-month-old boy with hemophilia A who was admitted to the hospital because of irritability and unspecified pain for the past two days. There was no history of evident trauma, no fever. Physical investigation showed no skin lesions or hematomas and no obvious cause for the pain. Neurological examination showed a dysphoric toddler, mainly in the fetal position. No neurological abnormalities were found except for a miosis of the right pupil due to a suspected Horner syndrome. Magnetic resonance imaging of the spine showed an extensive epidural hematoma. The boy was successfully treated with intensive replacement therapy during three weeks and did not require surgical intervention. There was a rapid and complete clinical resolution. In conclusion, rare hematomas should be considered and searched for in children with bleeding disorders and not well understood complaints. Early diagnosis is important for the neurological outcome.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)]. / Risico van acute leverinsufficiëntie bij kinderen door chronische accidentele overdosering van paracetamol.

Two girls aged 4 and 3 years, respectively, experienced acute liver failure due to accidental ingestion of supratherapeutic doses of paracetamol (90 mg/kg/day or more). Recognition of chronic paracetamol intoxication as a cause of acute hepatic failure is often delayed. It is important to consider the possibility of paracetamol-induced hepatotoxicity because many patients will recover if treated with N-acetylcysteine, as did both of these children. Patients with acute liver failure due to chronic paracetamol intoxication present with very high transaminase levels (> 4000 U/l), disproportionately low total bilirubin levels (< 200 micromol/l) and often hypoglycaemia.

[A boy with Churg-Strauss syndrome and thrombosis associated with eosinophilia]. / Een jongen met churg-strauss-syndroom en trombose samenhangend met eosinofilie.

A 13-year-old boy, recently diagnosed as having Churg-Strauss syndrome, presented with a thrombus at the level of the aortic bifurcation. Echocardiography revealed a left-ventricular thrombus as well. He was treated by means of surgical thrombectomy, corticosteroids, heparinisation and a coumarine derivative. Eosinophilia (an increase in the number of eosinophilic granulocytes in the circulation or tissues) occurs in various diseases, such as allergic diseases, parasitic infestations, haematologic diseases and autoimmune diseases like the rare Churg-Strauss syndrome. It appears likely that eosinophilia played an important role in the development of both thrombi in the described patient. Eosinophils produce cationic proteins that may inhibit the effect of natural anticoagulants. Infiltration of eosinophils may also cause endocardial damage with the subsequent formation of intracardial thrombi.

Surgical intervention of intestinal malrotations in paediatric patients without other congenital anatomical abnormalities: overview from a single center.

The subject of malrotation in infants and children without other congenital anatomical abnormalities is reviewed from the perspective of experience with 97 patients operated in 11 years. Fifty-five patients were younger than 6 weeks at operation. They often presented with bilious vomiting, in contrast to older children who presented with non-bilious vomiting or feeding problems. Patients younger than 6 weeks were operated more often acutely than older patients. Volvulus was more common in infants younger than 6 weeks. Two patients with a resulting short bowel syndrome died. In 73 of the surviving 95 (76.8%) children their symptoms disappeared. In the children younger than 6 weeks persisting abdominal problems were significantly less frequent than in older children. In the children presenting with proven gastro-esophageal reflux disease before the malrotation operation, abdominal problems persisted significantly more often. Although there remains considerable controversy over how older children without signs of vascular problems should be managed, failure to respond to radiographic evidence of malrotation could be considered malpractice if volvulus was to occur subsequently. For this reason, every patient with a radiological proven malrotation merits diagnostic laparoscopy.

[Two newborns with both small-bowel atresia and cystic fibrosis]. / Twee pasgeborenen met zowel dunnedarmatresie als cystische fibrose.

Two newborn girls presented with congenital small-bowel atresia; in one case a high intestinal obstruction had been demonstrated by prenatal echography, while in the other case there were feeding problems and a failure to produce meconium. In both infants, the postoperative period was complicated by feeding problems, malabsorption and insufficient growth. Cystic fibrosis (CF) was then diagnosed in both patients. After modification of the diet, both showed rapid growth to a normal weight. The prevalence of CF in children with congenital small-bowel atresia is 6-13%, which is considerably higher than in a normal population. There is still no good explanation for this finding, but it is likely that CF contributes to the development of small-bowel atresia. In view of the high prevalence of CF in children with small-bowel atresia, children with congenital small-bowel atresia should be examined for CF.

Seasonality of long term wheezing following respiratory syncytial virus lower respiratory tract infection.

BACKGROUND: It is well known that respiratory syncytial virus (RSV) lower respiratory tract infection (LRTI) is associated with subsequent wheezing episodes, but the precise natural course of wheezing following RSV LRTI is not known. This study aimed to determine the continuous development of wheezing following RSV LRTI in children up to the age of 3 years. METHODS: A prospective cohort study was performed in 140 hospitalised infants with RSV LRTI. Continuous follow up data were obtained with a unique log in which parents noted daily respiratory symptoms. RESULTS: A marked decrease in wheezing was seen during the first year of follow up. The burden of wheezing following RSV LRTI was observed during the winter season. Signs of airflow limitation during RSV LRTI were strongly associated with wheezing during the follow up period. Total and specific serum immunoglobulin E levels, patient eczema, and parental history of atopy were not associated with wheezing. CONCLUSIONS: Airway morbidity following RSV LRTI has a seasonal pattern, which suggests that viral upper respiratory tract infections are the predominant trigger for wheezing following RSV LRTI. There is a significant decrease in airway symptoms during the first 12 months after admission to hospital. Simple clinical variables, but not allergic risk factors, can predict the development of wheezing following RSV LRTI.

A new case of dup(3q) syndrome due to a pure duplication of 3qter.

The characteristic clinical features of the dup(3q) syndrome include typical facial features, mental and growth retardation, and (often) congenital heart anomalies. However, pure duplication of 3qter is rare because most of the reported cases are patients who carry an unbalanced translocation and, in addition to the duplication for 3qter, have a deletion for another chromosomal segment. A new case with a pure duplication of 3q detected in a 2-month-old boy is presented here. Extensive cytogenetic analysis revealed an inverted duplication of the distal part of 3q (chromosomal band 3q26.3 up to the telomere), with no (detectable) loss of the original telomeric sequences. Clinical evaluation revealed several phenotypic hallmarks characteristic for the dup(3q) syndrome. By comparing the duplicated region of this patient with the duplicated regions of the other patients with a pure duplication of 3q, we were able to localize the critical region for the dup(3q) phenotype to band 3q26.3. Alongside this new case with a pure duplication of 3q, an overview of six previous cases is given.

Anaphylaxis after first exposure to ceftriaxone.

UNLABELLED: Life-threatening anaphylaxis developed in a 5-y-old boy with septic shock within minutes of receiving his first intravenous injection of ceftriaxone. Hypersensivity could not be demonstrated by skin testing and ceftriaxone-specific IgE. However, an in vivo, controlled, intravenous challenge was clearly positive. CONCLUSION: Clinicians should be aware of the possibility of anaphylaxis occurring with the first dose of ceftriaxone, especially since such a reaction could go unnoticed in patients with life-threatening infections and unstable vital signs.

[Three infants with epidural hematoma]. / Drie zuigelingen met een epiduraal hematoom.

Three infants, two boys aged 10 months and one girl aged 5 months, developed drowsiness and emesis within a few hours of a fall (after which they had not lost consciousness). Radiological examination revealed an epidural haematoma which was treated with emergency decompression. The children subsequently made a good recovery. An epidural haematoma is a potentially life-threatening event. More than 20% of all cases of epidural haematoma occur in childhood. In contrast with distinct symptoms in most adults and older children, an epidural haematoma in infancy can have a minimum of symptoms. The open fontanelle means compression occurs less rapidly, but consequently blood loss can be greater, leading to acute anaemia, hypovolaemic shock and consumptive coagulopathy.

Local interferon-gamma levels during respiratory syncytial virus lower respiratory tract infection are associated with disease severity.

To investigate the role of cell-mediated immunity during respiratory syncytial virus (RSV) infection, interferon (IFN)-gamma and interleukin (IL)-10 levels in nasopharyngeal secretions were measured in infants with lower respiratory tract infection (LRTI) caused by RSV. A novel technique was used to measure in vivo cytokine levels in nasopharyngeal aspirates (NPAs). Cytokine levels in the NPAs of 17 mechanically ventilated infants and 43 nonventilated hospitalized infants were compared. As expected, mechanically ventilated infants were significantly younger than nonventilated infants (7 vs. 14 weeks). IFN-gamma levels were above the limit of detection in the NPAs of 3 (18%) mechanically ventilated infants and in the NPAs of 26 (60%) nonventilated infants. IL-10 levels in the NPAs of mechanically ventilated and nonventilated infants were comparable. It is hypothesized that maturation-related mechanisms have a key role in the development of RSV LRTI that results in mechanical ventilation.

Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome.

OBJECTIVE: To study the effects of long-term growth hormone (GH) treatment on left ventricular (LV) dimensions in children with Noonan's syndrome (NS). METHODS: Echocardiographic measurements of LV dimensions were performed before and during GH treatment in 27 participants (21 boys, 6 girls) in a partly controlled 3-year trial of high-dose GH treatment (0.15 IU/kg/day). Nineteen children had a congenital heart defect, 1 of them had hypertrophic obstructive cardiomyopathy. In the first 3 years, the children were assigned to 1 of 2 groups: group A with discontinuation of GH treatment in the 3rd year, or group B without GH treatment in the 1st year. After the 3rd year, 12 of the 27 children were followed up for 2 additional years to evaluate the long-term effects of GH treatment on the heart. RESULTS: At baseline, LV internal diameters were smaller, while posterior wall thickness were thicker than normal. Over the 1st year, changes in LV dimensions were comparable between the 2 groups. No significant differences were found in LV dimensions between the situation at baseline and after 4 years of GH treatment. CONCLUSION: Long-term high-dose GH treatment does not have clinically significant adverse effects on LV dimensions in children with NS.

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

Immunodeficiency in association with centromere instability of chromosomes 1, 9, and 16 and facial anomalies (ICF syndrome) is a rare autosomal recessive disorder. ICF patients show marked hypomethylation of their DNA; undermethylation of classical satellites II and III is thought to be associated with the centromere instability. We used DNA from three consanguineous families with a total of four ICF patients and performed a total genome screen, to localize the ICF syndrome gene by homozygosity mapping. One chromosomal region (20q11-q13) was consistently found to be homozygous in ICF patients, whereas all healthy sibs showed a heterozygous pattern. Comparison of the regions of homozygosity in the four ICF patients localized the ICF locus to a 9-cM region between the markers D20S477 and D20S850. Analysis of more families will be required, to refine the map location further. Isolation of the gene associated with the ICF syndrome not only will give insight into the etiology of the ICF syndrome but will also broaden our understanding of DNA methylation processes.

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients.

Interleukin-12 (IL-12) is a cytokine that promotes cell-mediated immunity to intracellular pathogens by inducing type 1 helper T cell (TH1) responses and interferon-gamma (IFN-gamma) production. IL-12 binds to high-affinity beta1/beta2 heterodimeric IL-12 receptor (IL-12R) complexes on T cell and natural killer cells. Three unrelated individuals with severe, idiopathic mycobacterial and Salmonella infections were found to lack IL-12Rbeta1 chain expression. Their cells were deficient in IL-12R signaling and IFN-gamma production, and their remaining T cell responses were independent of endogenous IL-12. IL-12Rbeta1 sequence analysis revealed genetic mutations that resulted in premature stop codons in the extracellular domain. The lack of IL-12Rbeta1 expression results in a human immunodeficiency and shows the essential role of IL-12 in resistance to infections due to intracellular bacteria.