ABSTRACT
UNLABELLED: We aimed to investigate care processes and outcomes among children and adolescents with type 1 diabetes treated in hospital-based multidisciplinary paediatric diabetes centres. Our retrospective cross-sectional study among 12 Belgian centres included data from 974 patients with type 1 diabetes, aged 0-18 years. Questionnaires were used to collect data on demographic and clinical characteristics, as well as process of care completion and outcomes of care in 2008. Most patients lived with both biological or adoption parents (77 %) and had at least one parent of Belgian origin (78 %). Nearly all patients (≥95 %) underwent determination of HbA(1c) and BMI. Screening for retinopathy (55 %) and microalbuminuria (73 %) was less frequent, but rates increased with age and diabetes duration. Median HbA(1c) was 61 mmol/mol (7.7 %) [interquartile range 54-68 mmol/mol (7.1-8.4 %)] and increased with age and insulin dose. HbA(1c) was higher among patients on insulin pump therapy. Median HbA(1c) significantly differed between centres [from 56 mmol/mol (7.3 %) to 66 mmol/mol (8.2 %)]. Incidence of severe hypoglycaemia was 30 per 100 patient-years. Admissions for ketoacidosis had a rate of 3.2 per 100 patient-years. Patients not living with both biological or adoption parents had higher HbA(1c) and more admissions for ketoacidosis. Parents' country of origin was not associated with processes and outcomes of care. CONCLUSION: Outcomes of care ranked well compared to other European countries, while complication screening rates were intermediate. The observed centre variation in HbA(1c) remained unexplained. Outcomes were associated with family structure, highlighting the continuing need for strategies to cope with this emerging challenge.
Subject(s)
Delivery of Health Care/standards , Diabetes Mellitus, Type 1/therapy , Quality Improvement , Adolescent , Belgium , Biomarkers/blood , Child , Child, Preschool , Cross-Sectional Studies , Delivery of Health Care/statistics & numerical data , Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/complications , Female , Glycated Hemoglobin/metabolism , Health Care Surveys , Humans , Hypoglycemic Agents/therapeutic use , Infant , Infant, Newborn , Linear Models , Male , Outcome and Process Assessment, Health Care , Poisson Distribution , Retrospective Studies , Surveys and QuestionnairesABSTRACT
Few patients with trisomy of the most distal region of chromosome 7q have been described. We report on a familial translocation t(2;7)(q37;q35) leading to trisomy 7q35-->7qter in a child and her paternal uncle and a minimal deletion of distal 2q as demonstrated by FISH with probes located in the chromosome 2q subtelomeric region. The clinical phenotype included macrocephaly and low-set ears, also found in other reported patients trisomic for the distal part of chromosome 7q. Phenotypic findings probably useful for the clinical diagnosis include normal size at birth, large head with frontal bossing, low-set ears of normal shape, small nose and low nasal bridge, feeding difficulties in infancy, and severe neurodevelopmental delay.
Subject(s)
Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 7 , Telomere , Translocation, Genetic , Trisomy , Adult , Female , Humans , Infant, Newborn , Male , PhenotypeABSTRACT
Congenital nemaline myopathy (CNM) is generally classified as a non-progressive or slowly progressive neuromuscular disease. We describe a boy with CNM and an isolated partial growth hormone (GH) deficiency. From the onset of GH therapy his respiratory capacity deteriorated rapidly. The possible association between this deterioration and GH therapy is discussed.
Subject(s)
Growth Hormone/adverse effects , Hypoventilation/chemically induced , Neuromuscular Diseases/congenital , Adolescent , Growth Hormone/pharmacology , Humans , Hypoventilation/etiology , Male , Muscles/drug effects , Neuromuscular Diseases/complications , Respiratory Insufficiency/chemically induced , Respiratory Insufficiency/etiology , Scoliosis/complicationsSubject(s)
Blood Vessel Prosthesis , Cysts/diagnostic imaging , Exudates and Transudates , Heart Defects, Congenital/surgery , Postoperative Complications/diagnostic imaging , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Male , Mediastinal Neoplasms/diagnostic imaging , Polytetrafluoroethylene , Tomography, X-Ray ComputedABSTRACT
Growth was studied in 88 long-term survivors of acute lymphoblastic leukemia who had been treated with three different regimens of therapy. The following time periods were evaluated: (1) during therapy; (2) between the end of therapy and the onset of puberty, and (3) between the onset of puberty and the most recent observation. We found: (1) a reduction of height SDS during therapy, related to the irradiation dose used; no significant effect of the duration of the therapy could be established; (2) a normal growth rate during the second time period studied for the total group, but a further decrease in height SDS for those found to be growth hormone deficient after therapy (47%), and (3) a further decrease in height SDS during puberty. The timing of puberty in the female patients was normal. We conclude that in patients treated for acute lymphoblastic leukemia, growth impairment has several components, different in timing and mechanism.