Aetiologies of low alkaline phosphatase in a Canadian Paediatric Tertiary Care Centre.

Objectives: Increasingly, laboratories flag low serum alkaline phosphatase (sALP) that are age-and sex-specific in paediatrics. The aim of this study was to report clinical manifestations of paediatric patients with age-and sex-specific low sALP, thereby increasing awareness of its potential aetiologies. Methods: This retrospective Canadian tertiary care paediatric hospital study assessed all sALP of ambulatory patients aged less than 18 years from 2015 to 2017. The hospital used a Beckman Coulter AU assay to measure sALP and compared values to the Canadian age-and sex-specific reference intervals from CALIPER. All children who had at least one subnormal age-and sex-specific sALP were evaluated. A review of medical charts of included patients was performed and demographic characteristics, medical history and diagnosis were collected, and categorized under groups of medical disorders. Results: Of 11,874 included patients, 1,001 patients (9.2%) had low sALP. Of those, 48% (485/1,001) had transient low sALP activity and 9.6% (96/1,001) had persistently low sALP. Prolonged immobilization and inflammatory bowel disease represented the main aetiologies for persistently low sALP. Interestingly, 13.5% (13/96) of patients with persistently low sALP had no apparent aetiology. Conclusions: Our results report aetiologies of low sALP in a Canadian paediatric population using age-and sex-specific Canadian reference ranges. This study highlights that healthcare providers should be aware that a low sALP may have clinical significance and should be repeated if warranted based on further clinical assessment.

Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five.

Background: This report describes a unique case of long-term survival of a young girl who was diagnosed with severe, rapidly progressive lysosomal acid lipase deficiency (LAL-D; historically "Wolman disease") at three months of age and began receiving therapeutic interventions at four months of age. This disease involves rapidly progressive multisystemic impairments and limited survival (6-12 months) without treatment. Methods: Case report taking into account clinical aspects and patient management including a semi-structured interview with the main family caregiver. Results: Presentation at two months of age: severe malnutrition and chronic diarrhea; hypoalbuminemia; low iron, vitamin A, and vitamin D levels; high triglyceride levels; profound anemia; thrombocytopenia; adrenal calcifications; and mild hepatosplenomegaly. Enzyme replacement therapy (ERT) with sebelipase alfa, parenteral nutrition, and a low-fat diet began at age four months. The patient has received sebelipase alfa for >5 years with good tolerability and is thriving, with a body mass index of 16.35 kg/m2 (80th percentile) despite a stature delay (height <3rd percentile), and mild developmental delay. Optimal medical management requires that family caregivers and health professionals have the knowledge and skills to provide appropriate care and supports multidisciplinary teams through transfer of knowledge to all stakeholders. Effective coordination of services and activities related to child health and development, including navigation of administrative and financial barriers, is also imperative. Conclusions: Formerly fatal in untreated infants, severe LAL-D, when diagnosed early, can be promptly and effectively treated by combining sebelipase alfa ERT, modified diet, involvement of family caregivers, and multidisciplinary team collaboration.

Etiology of community-acquired pneumonia treated in an ambulatory setting.

BACKGROUND: Very few studies have addressed the etiology of community-acquired pneumonia (CAP) treated in an ambulatory setting. METHODS: Patients were recruited from physicians' offices and from Emergency Rooms in Canada. Pneumonia was defined as two or more respiratory symptoms and signs and a new opacity on chest radiograph interpreted by a radiologist as pneumonia. Blood and sputum for culture as well as acute and convalescent serum samples for serology were obtained. Antibodies to Mycoplasma pneumoniae and Chlamydia pneumoniae were determined using enzyme-linked immunosorbent assays. RESULTS: Five hundred and seven patients were enrolled in the study; 419 (82%) had blood cultures done, seven (1.4%) of which were positive for Streptococcus pneumoniae; 241 (47.5%) had a sputum processed for culture, 31% of which were positive for a potential respiratory pathogen. 437 (86.2%) had both acute and convalescent serum samples obtained, 148 (33.8%) of which gave a positive result. Overall an etiological diagnosis was made in 48.4% of the patients. M. pneumoniae accounted for 15% of the cases, C. pneumoniae 12%, S. pneumoniae 5.9% and Haemophilus influenzae 4.9%. CONCLUSIONS: Despite considerable effort an etiological diagnosis of CAP treated on an ambulatory basis was made in only half the patients. The most commonly identified pathogens were M. pneumoniae, C. pneumoniae, S. pneumoniae,

Symptom resolution in patients with Mycoplasma pneumoniae pneumonia.

BACKGROUND: Mycoplasma pneumoniae generally causes pneumonia of mild to moderate severity in adults. However, little is known about the time course of the resolution of symptoms in this illness. OBJECTIVES: To determine the time course of the resolution of symptoms in M pneumoniae pneumonia. METHODS: The severity of fatigue, cough, dyspnea, sputum and pleuritic chest pain were self-scored and recorded daily for 14 days and on days 30 and 42. Each symptom was scored on a scale of 0 to 5. The sum of the five symptom scores had a range of 0 to 25 and was transformed into a value from zero to 100 by multiplying by four. RESULTS: The mean composite symptom score for 76 patients was 59 (out of 100) at presentation, which declined to a score of 17 on day 14. Patients with a score of greater than 20 on day 14 had significantly higher scores throughout the course of the illness. Thirty-four per cent of those who were employed did not take time off work. CONCLUSIONS: Most patients with M pneumoniae pneumonia had resolution of their symptoms within two weeks; however, 12.6% were still symptomatic at 42 days.

Resolution of symptoms in patients with community-acquired pneumonia treated on an ambulatory basis.

OBJECTIVE: To describe the resolution of five symptoms commonly associated with community-acquired pneumonia (CAP). METHODS: Three hundred and ninety-nine patients with CAP (Fine Classes I to III) recorded the severity (from 0 to 5) of fatigue, cough, dyspnoea, sputum, and pleuritic chest pain daily from enrollment to day 14 and also on days 30 and 42. A total symptom score was obtained by multiplying an individual score by four and summing the score of the five symptom (transformed score). A total symptom score of 20 on day 14, the patients with a score > 20 (n = 122; 33%) had higher symptom scores at all time points out to 42 days. The median time to return to work was 6 days. CONCLUSION: The pneumonia symptom severity score is a useful tool for advising patients regarding the time to symptomatic resolution of pneumonia.