Marie-José Walenkamp: paediatric endocrinologist whose research focused on genetics in growth

BMJ ◽  
2021 ◽  
pp. n1562
Author(s):  
Tony Sheldon
Author(s):  
Felix G. Riepe

Congenital adrenal hyperplasia (CAH) is caused by the genetic impairment of one of the five enzymes required for the biosynthesis of cortisol from cholesterol. In 95% of cases 21-hydroxylase deficiency (21-OHD) is responsible for the disease (1). Classic 21-OHD has an incidence varying from 1:11 800 to 1:21 800, depending on the population background. The pathophysiology, clinical picture, genetics, and the unique aspects of management from the point of view of the paediatric endocrinologist are addressed, and the problems encountered from birth to puberty are described. The child specific issues of rare forms of CAH are summarized thereafter. The reader is referred to Chapter 5.11 for a comprehensive overview of 21-OHD and for more details on all other forms of CAH.


2013 ◽  
Vol 18 (10) ◽  
pp. 533-537 ◽  
Author(s):  
Lyne Chiniara ◽  
Rebecca J Perry ◽  
Guy Van Vliet ◽  
Céline Huot ◽  
Cheri Deal

2020 ◽  
pp. 1357633X2097291
Author(s):  
Sarah C Haynes ◽  
James P Marcin ◽  
Parul Dayal ◽  
Daniel J Tancredi ◽  
Stephanie Crossen

Background Children in rural communities often lack access to subspecialty medical care. Telemedicine has the potential to improve access to these services but its effectiveness has not been rigorously evaluated for paediatric patients with endocrine conditions besides diabetes. Introduction The purpose of this study was to assess the association between telemedicine and visit attendance among patients who received care from paediatric endocrinologists at an academic medical centre in northern California between 2009–2017. Methods We abstracted demographic data, encounter information and medical diagnoses from the electronic health record for patients ≤18 years of age who attended at least one in-person or telemedicine encounter with a paediatric endocrinologist during the study period. We used a mixed effects logistic regression model – adjusted for age, diagnosis and distance from subspecialty care – to explore the association between telemedicine and visit attendance. Results A total of 40,941 encounters from 5083 unique patients were included in the analysis. Patients who scheduled telemedicine visits were predominantly publicly insured (97%) and lived a mean distance of 161 miles from the children’s hospital. Telemedicine was associated with a significantly higher odds of visit attendance (odds ratio 2.55, 95% confidence interval 2.15–3.02, p < 0.001) compared to in-person care. Conclusions This study demonstrates that telemedicine is associated with higher odds of visit attendance for paediatric endocrinology patients and supports the conclusion that use of telemedicine may improve access to subspecialty care for rural and publicly insured paediatric populations.


1995 ◽  
Vol 2 (3) ◽  
pp. 160-163 ◽  
Author(s):  
Marion L Ahmed ◽  
Alison D Allen ◽  
David B Dunger ◽  
Aidan Macfarlane

Objectives — To develop a method of community based growth assessment. Setting — Oxford District, United Kingdom. Methods — A system of growth surveillance involving a community consultant paediatrician, a paediatric endocrinologist, a clinical auxologist, a project coordinator, and the many primary health care teams was started. Letters and meetings were arranged to introduce the programme to general practitioners and health visitors, emphasising the importance of growth assessment in normal child development. They were asked to measure all children as part of their routine developmental checks at 3 and 4·5 years of age. Community growth assessment clinics staffed by an experienced auxologist were established. Children whose heights were more than two standard deviation (SD) scores below the mean or whose height SD score decreased between the two ages were referred to the clinic. Any child whose height was more than 3 SD scores below the mean was referred directly to the paediatric endocrinologist. Those seen in the community clinics were followed up for a year and if their velocity was >25th centile, karyotype normal, and bone age appropriately delayed, they were discharged to the general practitioner for further follow up. Any child with an annual velocity <25th centile was referred to the endocrinologist. Results — Of 20 338 children monitored, 260 (1·3%) had heights >−2 SD scores. Seventy six were lost to follow up, 35 were measuring errors, 69 were already seeing a paediatrician, leaving 80 children to be evaluated. Of these, 69 were “short normals” and 11 were newly identified diagnoses. Conclusions — This system of secondary referral keeps normal healthy children out of hospital, avoids unnecessary over-investigation, reduces travel and anxiety for families, avoids filling specialist clinics with normal children, and provides an inexpensive system of growth surveillance.


2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e10-e11
Author(s):  
Alexander Singer ◽  
Leanne Kosowan ◽  
John Queenan ◽  
Roseanne Yeung ◽  
Shazhan Amed ◽  
...  

Abstract BACKGROUND The prevalence of paediatric diabetes is increasing. Identifying and describing populations with paediatric diabetes using Primary Care Electronic Medication Records (EMR) can improve surveillance and management. OBJECTIVES To describe the population of children diagnosed with paediatric diabetes in Manitoba using Electronic Medical Record data from Community Paediatricians and Family Physcians in Manitoba. DESIGN/METHODS We applied a previously validated case definition for type 1 and type 2 diabetes to patients aged 1–18 seen by one of the 221 primary care providers participating in the Manitoba Primary Care Research Network (MaPCReN) between 1998–2015. We compared the agreement between the MaPCReN definition and Manitoba’s Diabetes Education Resource for Children and Adolescents (DERCA) clinical database of confirmed cases. Cases were described, including prevalence, patient characteristics, and health system use. RESULTS Our definition identified 166 children (0.4%, 95% CI 0.36% - 0.49%) of whom 53.0% lived in a rural location and 53.6% were female. The mean age at diagnosis was 11.4 years (SD 5.4). There were 90 patients identified by the definition also cared for by a paediatric endocrinologist at DERCA [sensitivity (54.2%), specificity (98.7%), and kappa (0.61, CI 0.54-.069)]. An additional 286 patients had at least one documented HbA1C of 6.5% or higher but did not have a corresponding diabetes diagnosis within the EMR. Of those, 45% had an HbA1c between 6.5 -7.5 and 25.9% had an HbA1c over 8.5%. Most of these patients also had an abnormal fasting glucose in the EMR (76.9%). There were 280 patients with an elevated HbA1c that had no evidence of attending an appointment with a paediatric endocrinologist at DERCA, 70.8% have a rural address. CONCLUSION The inclusion of HbA1c values in identifying paediatric diabetes suggested a large number of patients without a corresponding diabetes diagnosis or record of care from DERCA. Therefore, the DERCA database might be underestimating the true prevalence of diabetes in Manitoba. Understanding further characteristics of this population, is an essential step to inform the development of enhanced services and strategies.


1996 ◽  
Vol 46 (1) ◽  
pp. 8-25 ◽  
Author(s):  
A. Aynsley-Green

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