European journal of pediatrics
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Gilbert syndrome is a common autosomal dominant hereditary condition with incomplete penetrance and characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. In patients with Gilbert syndrome, uridine diphosphate-glucuronyl transferase activity is reduced to 30% of the normal, resulting in indirect hyperbilirubinemia. In its typical form, hyperbilirubinemia is first noticed as intermittent mild jaundice in adolescence. However, Gilbert syndrome in combination with other prevailing conditions such as breast feeding, G-6-PD deficiency, thalassemia, spherocytosis, or cystic fibrosis may potentiate severe hyperbilirubinemia and/or cholelithiasis. It may also reduce plasma oxidation, and it may also affect drug metabolism. Although in general the diagnosis of the syndrome is one of exclusion, molecular genetic tests can now be performed when there is a diagnostic problem. The most common genotype of Gilbert syndrome is the homozygous polymorphism A(TA)7TAA in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter designated UGT1A1*28. No specific management is necessary as Gilbert syndrome is a benign condition. ⋯ Gilbert genotype should be kept in the clinician's mind, at least as a contributor factor, in cases with unexplained indirect hyperbilirubinemia.
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High dependency care (HDC) is a level of care situated between intensive care and usual ward care with its delivery being independent of location. Inadequate definition makes it problematic to determine the number of children receiving HDC, to identify their care setting and therefore to undertake service planning. We aimed to estimate the volume of hospital inpatient HDC in a geographically defined population using a customised measurement tool in four types of paediatric hospital services (1) tertiary specialist wards, (2) tertiary paediatric intensive care units, (3) district general hospitals (DGHs) general wards and (4) wards at a major acute general hospital. ⋯ This is the first UK study to quantify HDC from empirical data encompassing all hospital and ward types within a large clinical network. A lack of HDC-designated beds across the region resulted in HDC delivery on all types of hospital wards. The study size and representativeness makes the estimated number of HDC bed days per head of population likely to reflect the wider UK population.
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Acute hemorrhagic edema of young children is an uncommon but likely underestimated cutaneous leukocytoclastic vasculitis. The condition typically affects infants 6-24 months of age with a history of recent respiratory illness with or without course of antibiotics. The diagnosis is made in children, mostly nontoxic in appearance, presenting with nonpruritic, large, round, red to purpuric plaques predominantly over the cheeks, ears, and extremities, with relative sparing of the trunk, often with a target-like appearance, and edema of the distal extremities, ears, and face that is mostly non-pitting, indurative, and tender. ⋯ Involvement of body systems other than skin is uncommon, and spontaneous recovery usually occurs within 6-21 days without sequelae. In this condition, laboratory tests are non-contributory: total blood cell count is often normal, although leukocytosis and thrombocytosis are sometimes found, clotting studies are normal, erythrocyte sedimentation rate and C-reactive protein test are normal or slightly elevated, complement level is normal, autoantibodies are absent, and urinalysis is usually normal. Experienced physicians rapidly consider the possible diagnosis of acute hemorrhagic edema when presented with a nontoxic young child having large targetoid purpuric lesions and indurative swelling, which is non-pitting in character, and make the diagnosis either on the basis of clinical findings alone or supported by a skin biopsy study.
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Comparative Study
Development of quality indicators based on a multidisciplinary, evidence-based guideline on pediatric constipation.
Several clinical guidelines for childhood functional constipation have been developed, but none of them is accompanied by a set of quality indicators. It is important to gain insight into the quality of care in daily practice in order to improve the implementation of clinical guidelines. This can be done by developing and measuring quality indicators. ⋯ Assessment of the initial 84 potential quality indicators was done by using a RAND-modified Delphi method. The final set consisted of seven representative quality indicators (one structure and six process quality indicators) for children with functional constipation, covering the dimensions of diagnosis, medical treatment, non-medical treatment and referral. This study describes a systematic method to develop a set of seven process and structure quality indicators that can be used to monitor quality of health care for children with functional constipation.
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The term "catastrophic" antiphospholipid syndrome (CAPS) is used to define a subset of the antiphospholipid syndrome (APS) characterized by the clinical evidence of three or more organ involvement by thrombotic events in a short period of time and with laboratory confirmation of the presence of antiphospholipid antibodies. We describe a male infant first admitted at 17 days old for necrotizing enteritis complicated by cardiac and renal failure. Because of progressive renal function deterioration, a renal biopsy was performed at 8 months old, and histopathologic examination was compatible with renal venous thrombosis. ⋯ To the best of our knowledge, this is the youngest patient reported with probable CAPS. Although rare, APS/CAPS in the neonatal period or in the first year of life must be suspected in infants presenting with thrombotic phenomena. The present case illustrates the importance of an early diagnosis and treatment to enhance possibilities of survival.