Neonatal hydrocolpos presenting as a rapidly progressive abdominal mass with inferior caval vein syndrome.

A 7-week-old infant was presented at the emergency department with an abdominal mass, unilateral swelling of the groin and suspicion of an inferior caval vein syndrome with bluish discolouration and oedema of the lower extremities. Abdominal imaging showed two large cysts and profound bilateral hydronephrosis. Following laparotomy, an extreme hydrocolpos and an overdistended urinary bladder were found. These findings turned out to be secondary to a transverse vaginal septum. She was treated surgically and was hospitalised for 2 weeks. Long-term follow-up showed normalisation of previously present hypercalciuria and hydronephrosis.A hydro(metro)colpos should be considered in the differential diagnosis of a female infant presenting with an abdominal mass, to apply the appropriate investigations and therapy.

The division and transfer of care responsibilities in paediatric type 1 diabetes: A qualitative study on parental perspectives.

AIM: To determine which factors other than child age play a role in the division and transfer of diabetes care responsibilities between parents and children with type 1 diabetes. DESIGN: Qualitative focus group study. METHODS: Across four sites in the Netherlands, 18 parents (13 mothers) of children (9-14 years) with type 1 diabetes participated in four focus groups in 2015-2016, as part of the research project 'Whose diabetes is it anyway?'. Qualitative content analysis and the constant comparison method were used to analyse the data. RESULTS: According to parents, the transfer process included both direct and indirect tasks, had different levels (remembering, deciding, performing), was at times a difficult and stressful process, and showed large variation between families. A large number of child, parent and context factors were identified that affected the division and transfer of diabetes care responsibilities according to parents. Both positive and negative consequences of the transfer process were described for parental and child health, behaviour and well-being. Parental final evaluations of the division and transfer of diabetes care responsibilities appeared to be dependent on parenting values. CONCLUSION: How families divide and transfer diabetes care tasks appeared to be affected by a complex interplay of child, parent and context characteristics, which had an impact on several parent and child domains. IMPACT: Parents struggle with the right timing of transfer, which calls for more support from diabetes nurses. The identified factors can be used as input for integrating a more family-based approach into current age-based guidelines, to improve regular care.

Implementation of quality of life monitoring in Dutch routine care of adolescents with type 1 diabetes: appreciated but difficult.

OBJECTIVE: Monitoring quality of life (QoL) improves well-being and care satisfaction of adolescents with type 1 diabetes. We set out to evaluate the implementation of the program DAWN (Diabetes Attitudes Wishes and Needs) MIND-Youth (Monitoring Individual Needs in Young People With Diabetes) (DM-Y), in which Dutch adolescents' QoL is assessed with the MIND Youth Questionnaire (MY-Q) and its outcomes are discussed. Successful implementation of DM-Y warrants close study of experienced barriers and facilitators as experienced by diabetes care teams as well as adolescents and parents. METHODS: The study was conducted in 11 self-selected Dutch pediatric diabetes clinics. A mixed methods approach was used. Ten diabetes teams (26 members) were interviewed; 36 team members, 29 adolescents, and 66 parents completed an online survey. RESULTS: Two of 10 teams successfully implemented DM-Y. Whereas 92% of teams valued DM-Y as a useful addition to routine care, most clinics were not able to continue because of logistical problems (lack of time and manpower). Still, all teams had the ambition to make DM-Y integral part of routine care in the nearby future. Seventy-nine percentage of the parents and 41% of the adolescents appreciated the usage of MY-Q, same percentage of adolescents neutral. CONCLUSIONS: DM-Y is highly appreciated by teams, as well as adolescents and parents, but for most clinics it is difficult to implement. More effort should be paid to resolve logistic problems in order to facilitate dissemination of DM-Y in care nationwide.

Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature.

We describe a 13-year-old boy with developmental delay and proximal muscle weakness who has monosomy 20 mosaicism in blood and skin cells. Because of asymmetric features (difference in foot size, slightly asymmetric intergluteal cleft), we performed extensive cytogenetic studies in peripheral blood and skin. In cultured and uncultured blood lymphocytes, we found 0.9 and 6.5% of cells with monosomy 20, respectively. In addition, 3.3% of uncultured skin fibroblasts and 1.5% of buccal mucosa cells had monosomy 20. This is the fifth patient published with this chromosomal condition. These patients show variable clinical features, ranging from normal to delayed motor and speech development. There is no apparent relation between the percentage of monosomic cells as studied in blood and the severity of the phenotype. This could be due to different degrees of mosaicism in the other tissues and organs, which may vary considerably from patient to patient. The degree of monosomy 20 mosaicism in blood is in most patients below the detection limit of microarray technology. Therefore, this work illustrates the necessity of detailed cytogenetic investigation of multiple cell types in developmentally retarded patients with normal microarray results, especially when there are subtle physical indications of chromosomal mosaicism.

The interrelationships among paternal and maternal parenting stress, metabolic control, and depressive symptoms in adolescents with type 1 diabetes mellitus.

OBJECTIVE: To examine the relationship between paternal and maternal parenting stress, metabolic control, and depressive symptoms in adolescents with type 1 diabetes mellitus (T1DM). METHODS: 151 adolescents with T1DM (mean age 14.9 ± 1.7 years) and a comparison group (n = 122) reported their depressive symptoms and behavior problems. Mothers (T1DM n = 126; comparison group n = 106) and fathers (T1DM n = 103; comparison group n = 55) each reported parenting stress. Metabolic control was assessed by the glycosylated hemoglobin (HbA1c) values obtained from the medical records. RESULTS: Fathers of adolescents with T1DM reported significantly more parenting stress than fathers of the comparison group. Parenting stress was associated with depressive symptoms only in adolescents with T1DM. Parenting stress in fathers explained 25% of the variance in depressive symptoms in adolescents with T1DM and 18% of the variance in HbA1c. In mothers, this was 22% and 19%, respectively. CONCLUSION: The combination of blood glucose control and depressive symptoms in adolescents with T1DM was found to be associated with both paternal and maternal parenting stress.