Parental Ability to Assess Pediatric Vital Signs.

OBJECTIVE: To evaluate parents' ability to accurately assess their child's heart and respiratory rates (RRs) in the context of potential utility for telehealth visits. STUDY DESIGN: In this controlled study of 203 child-parent pairs, parents measured their child's heart rate (HR) using 4 methods: palpation, auscultation, and 2 photoplethysmographic smartphone applications. Parents measured RR by inspecting the child and tapping the smartphone application. The gold standards were electrocardiogram for the HR and the child's breaths measured by a health care professional for 60 seconds for the RR. We plotted the measurements using a Bland-Altman plot with 95% limits of agreement. RESULTS: Parents underestimated HR by palpation with a calculated bias of -18 beats per minute (bpm) (SD, 19), with limits of agreement ranging from -56 to 19 bpm. Parents overestimated and underestimated HR by auscultation with limits of agreement ranging from -53 to 46 bpm. Smartphone applications did not improve the accuracy of measurements. The accuracy of parental RR measurements was low. For young children, bias was -0.8 breaths per minute (brpm) (SD, 9.8) with limits of agreement from -20 to 19 brpm, and for older children, bias was 0.9 brpm (SD 7.4) with limits of agreement from 6 to 15 brpm. The sensitivity of parental subjective opinion to recognize accelerated RR was 37% (95% CI, 25%-51%). CONCLUSION: Parents were not able to assess their child's RR or HR accurately. Digital remote assessment of children should not rely on parental measurements of vital signs.

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children and 3 adult patients with genetically confirmed PEPCK-C deficiency were diagnosed during the years 2016 to 2019 and the available biochemical and clinical data were collected. All patients were ethnic Finns. Most patients (22 out of 24) had a previously published homozygous PCK1 variant c.925G>A. Two patients had a novel compound heterozygous PCK1 variant c.925G>A and c.716C>T. The laboratory results showed abnormal urine organic acid profile with increased tricarboxylic acid cycle intermediates and inadequate ketone body production during hypoglycemia. The hypoglycemic episodes manifested predominantly in the morning. Infections, fasting or poor food intake, heavy exercise, alcohol consumption, and breastfeeding were identified as triggering factors. Five patients presented with neonatal hypoglycemia. Hypoglycemic seizures occurred in half of the patients (12 out of 24). The first hypoglycemic episode often occurred at the age of 1-2 years, but it sometimes presented at a later age, and could re-occur during school age or adulthood. This study adds to the laboratory data on PEPCK-C deficiency, confirming the recognizable urine organic acid pattern and identifying deficient ketogenesis as a novel laboratory finding. The phenotype is expanded suggesting that the risk of hypoglycemia may continue into adulthood if predisposing factors are present.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance. Conventional transmission electron microscopy (TEM) is a diagnostic standard to identify ultrastructural defects in respiratory cilia but is not useful in approximately 30% of PCD cases, which have normal ciliary ultrastructure. DNAH11 mutations are a common cause of PCD with normal ciliary ultrastructure and hyperkinetic ciliary beating, but its pathophysiology remains poorly understood. We therefore characterized DNAH11 in human respiratory cilia by immunofluorescence microscopy (IFM) in the context of PCD. We used whole-exome and targeted next-generation sequence analysis as well as Sanger sequencing to identify and confirm eight novel loss-of-function DNAH11 mutations. We designed and validated a monoclonal antibody specific to DNAH11 and performed high-resolution IFM of both control and PCD-affected human respiratory cells, as well as samples from green fluorescent protein (GFP)-left-right dynein mice, to determine the ciliary localization of DNAH11. IFM analysis demonstrated native DNAH11 localization in only the proximal region of wild-type human respiratory cilia and loss of DNAH11 in individuals with PCD with certain loss-of-function DNAH11 mutations. GFP-left-right dynein mice confirmed proximal DNAH11 localization in tracheal cilia. DNAH11 retained proximal localization in respiratory cilia of individuals with PCD with distinct ultrastructural defects, such as the absence of outer dynein arms (ODAs). TEM tomography detected a partial reduction of ODAs in DNAH11-deficient cilia. DNAH11 mutations result in a subtle ODA defect in only the proximal region of respiratory cilia, which is detectable by IFM and TEM tomography.

[Screening of congenital heart defects in the newborn--time to unify the practices of oxygen saturation screening in Finland]. / Vastasyntyneiden sydänvikojen seulonta--aika yhtenäistää happisaturaatioseulonnan käytännöt.

Saturation screening of congenital heart defects in the newborn takes place in Finnish maternity hospitals. Saturation screening has been shown to be a cost-effective way to screen critical heart defects in the newborn. Screening aims to reveal the heart defect before potential circulatory collapse. Early diagnosis is important, as invasive therapeutic measures for congenital heart defects have been concentrated to one center. There are differences in the implementation of saturation screening. We therefore recommend unifying the screening system to conform with the recently published Nordic recommendation. Screening should be conducted during the first day of life by measuring the saturation values of both the right upper limb and one of the lower limbs.

Etiology of Infectious Diseases in Acutely Ill Children at a Pediatric Hospital in Finland.

This is a brief report of the etiology of infectious diseases in a pediatric emergency department. Our cohort study of 4647 children demonstrated rhinovirus as the most common etiology in a pediatric emergency department (23%) and intensive care (48%). The population-based incidence of rhinovirus-related visits was 1796/100,000/yr in children <5 years. The most common bacterial pathogen was Escherichia coli (5%).

Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism.

BACKGROUND: Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appear to suffer from airway obstruction related to infection or exercise, prompting use of inhaled therapies. Asthma medication is continued up to adolescence or even to adulthood due to persisting of symptoms. The pulmonary pathophysiology has previously not been evaluated in any MUL cohort. METHODS: Thirty three finnish MUL patients (median age 20 years) were investigated with several lung function tests: spirometry with bronchodilatation test, single-breath diffusing capacity for carbon monoxide, single-breath lung volume measurements with helium dilution, and thoracic gas volume, airway resistance and specific conductance measurements with a body plethysmograph. As MUL typically affects body proportions, all variables were compared with reference values and with predicted values calculated from sitting height. RESULTS: Total lung capacity and forced vital capacity were markedly reduced (total lung capacity [TLC] and forced vital capacity [FVC], P < .001, 51%-63% of predicted) and also forced expiratory volume in the first second was reduced (FEV1; P < .001, 47%-57%). No signs of airway obstruction was seen (normal FEV1/FVC and specific airway conductance SGaw). Diffusing capacity (DLCO) was decreased (P < .001, 60%-67%) but when related to alveolar volume it was increased (DLCO/VA, P < .001, 130%-148%). Bronchodilatation suggesting active asthma (FEV1 change ≥12% and ≥​​200 mL) was found only in one patient. CONCLUSION: MUL patients typically have volume restriction of the lungs, but function of the pulmonary tissue remains intact. Evidence of asthma in lung function testing at adult age is rare.

Should pulse oximetry be used to screen for congenital heart disease?

Ten studies (44 969 newborns, 71 severe defects) evaluating the usefulness of neonatal pulse oximetry (PO) screening in timely detection of congenital heart disease (CHD) were reviewed. PO showed a high specificity (99.9-99.99%), and the overall rate of detection of 15 individual defects with PO was 72% (range 46-100%), exceeding that of the clinical examination 58% (9-86%). Similar results were obtained for cyanotic CHD (89% v 69%, respectively). Without PO, discharge of apparently healthy infants with unknown CHD was 5.5 times and 4.1 times more likely in cyanotic CHD and all serious CHD, respectively. The paper describes the technical and practical details of first day and later screening. Diagnosis is reached earliest with first day screening, but it requires more resources. PO screening is not sensitive enough to serve as an independent screen, but along with the clinical examination it helps minimise the morbidity and mortality associated with discharge without diagnosis. Further research is needed for precise delineation of populations that would benefit from PO screening.

Primary human herpesvirus-6 infection in the central nervous system can cause severe disease.

Human herpesvirus-6 (HHV-6) infection is common in infancy, and symptoms are usually mild. However, encephalitis and other neurologic complications have been reported. Primary HHV-6 infection has been rarely confirmed in the central nervous system. We studied 21 children with suspected HHV-6 infection, drawn from a prospective, large-scale study of neurologic infections in Finland. Human herpesvirus-6 polymerase chain reaction was performed on cerebrospinal fluid samples, and antibody tests were performed on serum and cerebrospinal fluid. We identified nine children, aged 3 to 24 months, who had HHV-6-specific nucleic acid in cerebrospinal fluid. Primary infection was confirmed by seroconversion of specific antibodies in six, whereas one had a fourfold increase, and one had a fourfold decrease, in the antibody titer supporting recent infection. Generalized and prolonged seizures appeared in six children, four had a rash, four had ataxia, and four had gastroenteritis. All but two had a high fever. At follow-up, four children had evident neurologic sequelae, ataxia, and developmental disability, and needed special education. Primary HHV-6 infection may invade the central nervous system, and can cause neurologic symptoms and potentially permanent disability in children aged