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Papers by Birgitte Mahler

Methods of Information in Medicine

Background Health care services are increasingly being digitized, but extant literature shows tha... more Background Health care services are increasingly being digitized, but extant literature shows that digital technologies and applications are often developed without careful consideration of user needs. Research is needed to identify and investigate best-in-class methods to support user-centered design of mHealth applications. Objectives The article investigates how the Kano model can be adapted and used for the purpose of eliciting child patients' information needs during the design phase of mHealth application development. The aim is to demonstrate its applicability for collecting and analyzing patient-centered data that are key to designing technology-supported solutions for health management. Methods The article is based on a mixed-methods case study, which includes interviews with 21 patients aged 6 to 18. Structured interviews are analyzed based on prescriptions of the Kano model. Semi-structured interviews about child patients' information needs are analyzed thematical...

European Journal of Pediatrics, 2017

Desmopressin is a long-established treatment for nocturnal enuresis with clear guidelines regardi... more Desmopressin is a long-established treatment for nocturnal enuresis with clear guidelines regarding its usage. A sex difference in renal sensitivity has recently been reported in adults. The objective of this study was to investigate real-life desmopressin prescription in the Danish pediatric population, and prescription patterns which may reflect a sex difference in pediatric usage. Formulation, dose, treatment duration, and safety (hyponatremia) were investigated. 40,596 children received 214,220 desmopressin prescriptions between 2004 and 2011 in the Danish National Prescription Registry. Data were linked to hyponatremia diagnoses from the National Patient Registry. Although the lowest recommended dose of desmopressin oral lyophilisate is 120 μg, around a fifth of children were prescribed 60 μg for long-term use. A greater proportion of girls (22.6%) than boys (19.8%) received this low dose. Treatment duration was longer for boys than girls on oral lyophilisate (mean 489-524 vs. 414-462 days) and tablet (0.1 mg: 204 vs. 161 days). Prescribed daily dose was consistent with time between prescriptions, indicating no significant drug holidays. There were no admissions for hyponatremia during the observation period. Conclusion: Danish national prescription data on pediatric desmopressin dosage are consistent with a greater sensitivity to desmopressin in girls than boys. Further studies are required. What is Known: • Desmopressin has been used for pediatric nocturnal enuresis for decades • Recent evidence suggests a sex difference in desmopressin sensitivity in adults What is New: • For the first time, desmopressin prescription practices in nocturnal enuresis are documented for an entire country • A higher proportion of girls than boys received a low dose of desmopressin, consistent with the sex difference in sensitivity reported in adults.

$Research paper thumbnail of Transcutaneous Electrical Nerve Stimulation for Refractory Daytime Urinary Urge Incontinence$

AJP: Renal Physiology, 2013

We investigated the influence of sex and puberty stage on circadian urine production and levels o... more We investigated the influence of sex and puberty stage on circadian urine production and levels of antidiuretic hormone [arginine vasopressin (AVP)] in healthy children. Thirty-nine volunteers (9 prepuberty boys, 10 prepuberty girls, 10 midpuberty boys, and 10 midpuberty girls) were included. All participants underwent a 24-h circadian inpatient study under standardized conditions regarding Na+ and fluid intake. Blood samples were drawn every 4 h for measurements of plasma AVP, serum 17-β-estradiol, and testosterone, and urine was fractionally collected for measurements of electrolytes, aquaporin (AQP)2, and PGE2. We found a marked nighttime decrease in diuresis (from 1.69 ± 0.08 to 0.86 ± 0.06 ml·kg−1·h−1, P < 0.001) caused by a significant nighttime increase in solute-free water reabsorption (TcH2O; day-to-night ratio: 0.64 ± 0.07, P < 0.001) concurrent with a significant decrease in osmotic excretion (day-to-night ratio: 1.23 ± 0.06, P < 0.001). Plasma AVP expressed a ci...

Proceedings of the 52nd Hawaii International Conference on System Sciences, 2019

This paper evaluates the value of using a mobile digital technology for the purpose of collecting... more This paper evaluates the value of using a mobile digital technology for the purpose of collecting Patient-Reported Outcome (PRO) data. We compare the use of a paper-based questionnaire and a mobile application as two different PRO instruments. Based on analysis, we conclude that use of the mobile application allows for a more nuanced picture of patients' health to be established. Implications for diagnosis and medical treatment are discussed along with the need for future research.

Pediatric Rheumatology

Introduction: In 2015 the historic Jones criteria for the diagnosis of Acute Rheumatic Fever (ARF... more Introduction: In 2015 the historic Jones criteria for the diagnosis of Acute Rheumatic Fever (ARF) were revised introducing two different sets of criteria for low-risk and for moderate/high-risk populations (according to ARF incidence). In Italy the exact ARF incidence is unknown but small regional or local reports suggest an incidence of 2-5/100.000 per year, suggesting that our population might be considered at moderate risk for ARF. Objectives: To evaluate the performance of the revised Jones criteria in a retrospective population and to compare it with the performance of the previous version of Jones criteria. Methods: We conducted a retrospective study on 288 patients with ARF (108 female; median age 8.5 years, IQR 7.1-10.3) diagnosed from 2001 to 2015 in a Pediatric Rheumatology Division by pediatric rheumatologists, discharged with an ICD 9 code consistent with ARF. We retrospectively applied the two sets (for low-risk and for moderate/high-risk) of the 2015 revised Jones criteria and the 1992 version of the Jones criteria. Results: Of 288 patients, 253 (87.8%) met the 1992 version of the Jones criteria, 237 (82.3%) met the revised criteria for low-risk populations and 259 (89.9%) for moderate/high-risk populations. None of these differences was significant. Prevalence of major and minor criteria is shown in Table. With the exception of difference in arthritis, the 1992 version and the 2015 revised version did not show major differences. Of the 288 patients with a clinical diagnosis of ARF 29 did not meet any version of the Jones criteria. Patients in this group presented with isolated chorea or silent carditis without other manifestations. Prevalence of the clinical characteristics and comparison among the 1992 version of Jones criteria and the 2015 revised Jones criteria (low risk and moderate-high risk populations): Values are expressed in Number (percentage). *p value (Fisher Exact test) Conclusion: The revised Jones criteria for low-risk populations are slightly more sensitive than the 1992 version of Jones criteria, while the revised Jones criteria for moderate/high populations are slightly less sensitive than the 1992 version. In this population, the revised criteria did not substantially modify the diagnosis of ARF. Approximately 10% of patients presented with isolated chorea or silent carditis.

Scandinavian Journal of Clinical and Laboratory Investigation

BACKGROUND We report on a research project at the largest hospital in Denmark. The project invest... more BACKGROUND We report on a research project at the largest hospital in Denmark. The project investigates the value of using an mHealth application for the purpose of collecting patient-reported outcome data in support of health management. OBJECTIVE This article addresses the following research question: To what extent can the Kano model be used to elicit the information needs of patients as a basis for designing and evaluating a digital technology solution to meet those needs? METHODS The study is carried out using a mixed-methods research design that includes structured interviews based on the Kano model and semi-structured interviews grounded in extant literature to collect and analyze empirical data about patients' information needs. RESULTS Our study shows that semi-structured interviews with children and their parents provide both a valuable and necessary supplement to structured interviews with the children based on the Kano model when trying to understand both manifest an...

Rheumatology

Objectives We investigated a patient with systemic juvenile idiopathic arthritis (sJIA) and recur... more Objectives We investigated a patient with systemic juvenile idiopathic arthritis (sJIA) and recurrent macrophage activation syndrome (MAS) to discover genetic and immunological contributing factors. Methods Severe recurrent MAS motivated whole exome sequencing (WES) to identify genetic variants potentially involved in disease pathogenesis. In vitro peripheral blood mononuclear cell (PBMC) stimulations for cytokine expression and caspase-1 activity assays as well as NF-κB reporter luciferase assays were performed to functionally characterize variants. Results WES revealed an extremely rare heterozygous missense variant, c.482G>A, p.R161H in the CASP1 gene encoding pro-caspase-1. Lipopolysaccharide (LPS) stimulation of patient PBMCs induced high levels of IL-6 compared to controls, and activation of the NLRP3 inflammasome resulted in increased production of IL-1β and IL-18 as well as significantly elevated caspase-1 activity. Constitutive and inducible levels of IL-18 and IFNγ in w...

LUTS: Lower Urinary Tract Symptoms

The Journal of Rheumatology

Objective Chronic non-bacterial osteomyelitis (CNO) is a sterile inflammatory bone disorder with ... more Objective Chronic non-bacterial osteomyelitis (CNO) is a sterile inflammatory bone disorder with an unpredictable course of disease. The aim of the present study was to assess clinical and radiological disease activity in children with CNO including response to early-onset pamidronate treatment in CNO. Methods We conducted a single center retrospective study of children fulfilling the Bristol Criteria for CNO. At the time of diagnosis, whole-body MRI (WBMRI) or local MRI was performed to assess radiological disease activity. Children with multifocal or spinal bone inflammation and clinical disease activity not responding to NSAIDs were categorized as having extended CNO. Clinical disease activity was assessed annually. Results Fifty-one children were included. Median follow-up time was 4 [IQR 3-7] years. Children categorized with extended CNO (n=32) were treated in an early onset two-year pamidronate regimen. In extended CNO, WBMRI was performed at time of diagnosis, at year one and...

Journal of Pediatric Gastroenterology and Nutrition

Pediatric Nephrology, 2016

We investigated the effect of combining indomethacin and desmopressin in treating children with m... more We investigated the effect of combining indomethacin and desmopressin in treating children with monosymptomatic nocturnal enuresis (MNE) and desmopressin-resistant nocturnal polyuria. Twenty-three children with MNE, nocturnal polyuria, and partial or no response to desmopressin were recruited from incontinence clinics of our tertiary referral center. We used a randomized single-arm crossover placebo-controlled study design consisting of two 3-week treatment periods with a combination of desmopressin (0.4 mg) and indomethacin (50 mg) or desmopressin and placebo at bedtime. Home recordings at baseline and for the final 2 weeks of each treatment period were performed and included nocturnal urine output measurements. The number of dry nights achieved and reduction in the nocturnal urine output were the main effect parameters. Student&amp;amp;amp;#39;s t test and Pearson&amp;amp;amp;#39;s correlation coefficient were used for statistical analysis. The addition of indomethacin to desmopressin significantly reduced nocturnal urine output (from 324 ± 14 ml to 258 ± 13 ml, p &amp;amp;amp;lt; 0.001). This did not lead to more dry nights in all children, and we found no statistically significant reduction in enuresis frequency (from 68 % ± 0.1 to 56 % ± 0.1, p = 0.24). Addition of indomethacin to desmopressin can further reduce nocturnal urine output in children with MNE and desmopressin-resistant nocturnal polyuria. The combination treatment does not, however, improve outcome in terms of frequency of nights with enuresis. The dissociation of antidiuretic and antienuretic effect may reflect nocturnal bladder reservoir dysfunction in children who present with normal daytime bladder function.

Neurourology and Urodynamics, 2016

To evaluate the immediate effect on natural fill urodynamic parameters and bladder function durin... more To evaluate the immediate effect on natural fill urodynamic parameters and bladder function during transcutaneous electrical nerve stimulation (TENS) in children with overactive bladder (OAB) and daytime urinary incontinence (DUI). In this double-blind, placebo-controlled study, 24 children with severe OAB and DUI (mean age 8.5 ± 1.2 years) underwent 48-h natural fill urodynamics. After 24 h of baseline investigation, the children were randomized to either active continuous TENS (n = 12) or placebo TENS (n = 12) over the sacral S2-S3 outflow. The urodynamic recordings were analyzed manually for three different bladder contraction patterns resulting in a void. The number of bladder contractions not leading to a void was also calculated. Maximum voided volume (MVV) and average voided volume (AVV) were identified for both the baseline and the intervention day. We found that TENS had no immediate objective effect on bladder capacity. The difference (before minus after treatment) in MVV/EBC in the active TENS group = 0.03 ± 0.23 versus placebo TENS group = -0.01 ± 0.10 (P = 0.61). Also, there was no significant difference in the proportion of different bladder contraction types between the two groups. TENS did not significantly influence the number of bladder contractions not leading to a void. Results are presented as mean ± SD. There is no immediate objective effect of TENS on bladder activity assessed by natural fill urodynamics in children with OAB and DUI.