Janie Coulombe

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Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts. Three infants who had sarcosinemia were detected through the neonatal urine specimen, an observed incidence of 1:350,000. A fourth child had sarcosinemia detected through family screening after his brother was found to have Hartnup disease by(More)
Screening neonates for methylmalonic aciduria is part of routine screening for metabolic disorders in Massachusetts. The process of urine collection by the parent and transmitted to the central screening laboratory was described in a previous publication (Pediatrics 49: 825, 1972). The primary objective of screening for methylmalonic aciduria is to detect(More)
We describe a prospective study of histidinaemia. Probands and siblings (n = 21) with typical histidinaemia in 16 families were ascertained by newborn screening; diagnosis was confirmed by appropriate investigations in each subject; none had been treated by low histidine diet. The median age of subjects with histidinaemia was 9.5 y (mean 10.0, SD 3.5, range(More)
BACKGROUND The widespread use of inhaled corticosteroids (ICSs) for COPD treatment has been questioned. Recent studies of weaning some patients with COPD off ICSs found little or no adverse consequences compared with long-acting bronchodilators. It is unclear, however, whether discontinuation of ICSs reduces the elevated risk of pneumonia associated with(More)
Newborn blood from three siblings with prolidase deficiency contained no detectable prolidase activity. Umbilical cord blood contained no prolidase activity in one sibling and only 6.8% of control activity in another sibling. In prolidase deficiency the enzyme defect is expressed at birth, well before the appearance of skin ulcers, and is demonstrable in(More)
Measurement of Outcomes of Care for Stroke Patients • A coordinated system of care for stroke patients is established in the community of Fall River, Massachusetts, involving the Stroke Unit of Union Hospital, the Rehabilitation Unit of Earle E. Hussey Hospital, and the Fall River District Nurse Association. Long-Range Evaluation Summary (LRES) data(More)
BACKGROUND Recent trends in vitamin K antagonists (VKA) use in non-valvular atrial fibrillation (NVAF) are useful to evaluate the potential improvement in management of NVAF since the introduction of new oral anticoagulants. Our objective was therefore to describe the contemporary VKA treatment patterns following NVAF diagnosis. METHODS AND RESULTS We(More)
Aims In patients with non-valvular atrial fibrillation (NVAF), it is uncertain whether the higher risk of ischaemic stroke in women reported in some studies is due to residual confounding. We assessed this association using standard time-fixed and more accurate time-dependent adjustment for confounders. Methods and results Using the computerized databases(More)
AIM Studies have linked the use of inhaled corticosteroids (ICSs) to excess pneumonia risk in chronic obstructive pulmonary disease patients. The risk in asthma patients remains unclear. The objective of the present study was to examine the risk of pneumonia with ICSs in asthma patients aged 12-35 years. METHODS We formed a cohort of asthma patients(More)