Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life

ObjectivesPaediatric patients with leukaemia with relapse or induction failure have poor prognosis. Anticipated quality of life (QoL) is important in treatment decision making. The objective was to determine if curative intent at relapse or induction failure, when compared with palliative intent, was associated with child’s physical health, pain or general fatigue and parents’ QoL over time among patients with paediatric leukaemia in El Salvador.MethodsThis was a prospective observational cohort study. Children 2–18 years with acute leukaemia at first relapse or induction failure were eligible. Assessments occurred every 2 months for up to 2 years using validated proxy report and self-report scales, where guardians were the primary respondents. Initial curative or palliative intent was categorised at enrolment by physicians. The impact of initial intent on QoL was assessed using linear mixed effects models and interaction between QoL and time.ResultsOf the 60 families enrolled, initial treatment intent was curative in 31 (51.7%) and palliative in 29 (48.3%). During the 2-year observation period, 44 children died. Initial curative intent significantly improved child’s physical health (estimate=8.4, 95% CI 5.1 to 11.6), pain (estimate=5.4, 95% CI 1.5 to 9.2) and fatigue (estimate=6.6, 95% CI 3.2 to 9.9) compared with palliative intent, but not parents’ QoL (estimate=1.0, 95% CI −0.8 to 2.8).ConclusionsAmong paediatric patients with acute leukaemia at relapse or induction failure, initial curative intent treatment plan was associated with better physical health, pain and fatigue when compared with palliative intent. A curative approach may be a reasonable option for patients with acute leukaemia even when prognosis is poor.

Download Full-text

Clinical Features, Psychiatric Comorbidity, and Health-Related Quality of Life in Persons Reporting Compulsive Computer Use Behavior

The Journal of Clinical Psychiatry ◽

10.4088/jcp.v60n1206 ◽

1999 ◽

Vol 60 (12) ◽

pp. 839-844 ◽

Cited By ~ 123

Author(s):

Donald W. Black ◽

Geeta Belsare ◽

Steven Schlosser

Keyword(s):

Quality Of Life ◽

Clinical Features ◽

Computer Use ◽

Psychiatric Comorbidity ◽

Health Related Quality ◽

Related Quality ◽

Health Related ◽

Use Behavior

Download Full-text

P269 Exploring gastrointestinal symptoms in paediatric patients with cystic fibrosis and impact on quality of life

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(20)30601-9 ◽

2020 ◽

Vol 19 ◽

pp. S132

Author(s):

A. Tierney ◽

S. O’Connell ◽

D. Daly

Keyword(s):

Quality Of Life ◽

Cystic Fibrosis ◽

Gastrointestinal Symptoms ◽

Paediatric Patients

Download Full-text

Comparative study of the use of Paediatric Quality Of Life Inventory 4.0 generic core scales in paediatric patients with spine and limb pathologies

The Bone & Joint Journal ◽

10.1302/0301-620x.102b7.bjj-2019-1766.r2 ◽

2020 ◽

Vol 102-B (7) ◽

pp. 890-898

Author(s):

Prudence W. H. Cheung ◽

Carlos K. H. Wong ◽

Jason P. Y. Cheung

Keyword(s):

Quality Of Life ◽

Idiopathic Scoliosis ◽

Psychosocial Health ◽

Scoliosis Research Society ◽

Quality Of Life Inventory ◽

Paediatric Patients ◽

Pedsql 4.0 ◽

Paediatric Orthopaedic ◽

Life Inventory

Aims The health-related quality of life (HRQoL) of paediatric patients with orthopaedic conditions and spinal deformity is important, but existing generic tools have their shortcomings. We aim to evaluate the use of Paediatric Quality of Life Inventory (PedsQL) 4.0 generic core scales in the paediatric population with specific comparisons between those with spinal and limb pathologies, and to explore the feasibility of using PedsQL for studying scoliosis patients’ HRQoL. Methods Paediatric patients attending a speciality outpatient clinic were recruited through consecutive sampling. Two groups of patients were included: idiopathic scoliosis, and paediatric orthopaedic upper and lower limb condition without scoliosis. Patients were asked to complete PedsQL 4.0 generic core scales, Youth version of 5-level EuroQol-5-dimension questionnaire, and Refined Scoliosis Research Society 22-item (SRS-22r) questionnaire. Statistical analyses included scores comparison between scoliosis and limb pathology patients using independent-samples t-test, and correlation tests of PedsQL and SRS-22r. Results A total of 566 paediatric patients were recruited: 357 (63.0%) having idiopathic scoliosis, and 209 (37.0%) with limb conditions. Patients with limb pathology had lower functioning scale, summary, and total scores of PedsQL than scoliosis patients (p < 0.05 to p < 0.001). No floor or ceiling effects (< 15%) were detected for PedsQL Psychosocial Health Summary and total scores in both groups. PedsQL was sensitive in differentiating patients with/without problems in their daily lives (p < 0.05 to p < 0.01). PedsQL summary and total scores correlated with SRS-22r total score. Conclusion PedsQL is an effective HRQoL measure for both paediatric orthopaedic groups with minimal ceiling and floor effects, and is capable of detecting worse HRQoL in patients with limb pathology. The multidimensional PedsQL is sensitive in differentiating among those with daily life problems, especially for scoliosis patients. Cite this article: Bone Joint J 2020;102-B(7):890–898.

Download Full-text

Opioid Use and Potency Are Associated With Clinical Features, Quality of Life, and Use of Resources in Patients With Gastroparesis

Clinical Gastroenterology and Hepatology ◽

10.1016/j.cgh.2018.10.013 ◽

2019 ◽

Vol 17 (7) ◽

pp. 1285-1294.e1 ◽

Cited By ~ 19

Author(s):

William L. Hasler ◽

Laura A. Wilson ◽

Linda A. Nguyen ◽

William J. Snape ◽

Thomas L. Abell ◽

...

Keyword(s):

Quality Of Life ◽

Clinical Features ◽

Opioid Use ◽

Use Of Resources

Download Full-text

P262 Trends in the prevalence and severity of anaemia in paediatric patients with inflammatory bowel disease in the last decade

Journal of Crohn s and Colitis ◽

10.1093/ecco-jcc/jjz203.391 ◽

2020 ◽

Vol 14 (Supplement_1) ◽

pp. S281-S281

Author(s):

S Y Geng ◽

Z Ridha ◽

B L Pham ◽

E Tran ◽

A Peixoto ◽

...

Keyword(s):

Quality Of Life ◽

Inflammatory Bowel Disease ◽

Iron Deficiency ◽

Disease Severity ◽

Bowel Disease ◽

Paediatric Patients ◽

Intestinal Involvement ◽

Inflammatory Bowel ◽

The Impact

Abstract Background Anaemia is one of the most common extraintestinal manifestations in patients with inflammatory bowel disease(IBD) at diagnosis. Studies have shown that anaemia was associated with low levels of quality of life, which improves with the correction of anaemia in adults. Recent data have shown an increase in the incidence and severity of paediatric IBD. We aim to investigate the trends in the prevalence of anaemia in children at diagnosis of IBD in the last decade. The secondary aim was to investigate the associations between haemoglobin (Hb) levels and disease characteristics. Methods Eligible patients (age ≤18 years, diagnosed with IBD from 2009 to 2018) were retrospectively identified through a prospective IBD database maintained at CHU Sainte-Justine, Montreal, Canada. Disease localisation and phenotype were defined according to the Paris Classification of IBD. Anaemia was defined by Hb levels according to WHO targets. The annual prevalence of anaemia was calculated according to subtype (inflammatory vs. iron deficiency). The Pediatric Crohn’s Disease Activity Index(PCDAI) and the Pediatric ulcerative colitis Activity(PUCAI) Index were used to assess the disease severity at diagnosis. Results We included 887 patients (439 females), mean(SD) age of 13.1 (3.4) years. Of these, 519 (58.5%) were identified with anaemia within 30 days of diagnosis. The median (IQR) Hb level at diagnosis was 108 (98 −114) g/dl. Severe anaemia(< 70 g/dl) was present in 1.8 % of patients. The prevalence of anaemia at diagnosis remained relatively stable ranging from 60.2% in 2009 to 60.4% in 2018. The annual proportion of inflammatory vs. iron-deficiency anaemia is displayed in Figure 1. Anaemia was more prevalent in CD (62.2%) than UC (57.9%) or IBD-U(39.6%). The median(IQR) PCDAI and PUCAI were respectively 37.5 (27.5–47.5) and 55.0 (40.0–65.0) in the anaemic group as compared with 27.5 (20.0–37.50) and 35.0 (25.0–55.0) in the non-anaemic group; p < 0.0001. Patients with anaemia had a lower BMI z-score [median(IQR) −0.84(−1.84–0.08)] than the non-anaemic patients[median(IQR) −0.38(−1.21–0.43)]; p < 0.001. The prevalence of anaemia correlated significantly with disease location: upper intestinal involvement [L4a(67.7%) L4b(63.6%) L4aL4b(60.7%) none (52.8%)] p = 0.024 for CD; for UC[E1(21.1%) E2(44.4%) E3(75.0%) E4 (71.1%)] p < 0.0001. A moderate correlation was found between Hb levels and C-reactive protein (r = −0.312, 95% CI: −0.378 to −0.243, p < 0.0001). Conclusion Anaemia remains a prevalent symptom in paediatric patients with IBD, and it is correlated with the extent of intestinal involvement and disease severity. The impact of anaemia at diagnosis and during follow-up on the levels of quality of life and physical activity is currently under investigation.

Download Full-text