bluuebunny/crossref_metadata_2025_split huggingface dataset:
Crohn's‐like ileo‐colitis in patients affected by glycogen storage disease Ib: two years’follow‐up of patients with a wide spectrum of gastrointestinal signs
Authors: Melis D , Parenti G , Casa R Della , Sibilio M , Canani R Berni , Terrin G , Cucchiara S , Andria G 
Published: August 2010

Aim: To investigate the presence of inflammatory bowel disease (IBD) and to evaluate the progression of bowel involvement after two years’follow‐up in seven patients affected by glycogen storage disease type Ib (GSDIb). Methods: Seven patients (5F, 2M, aged 4.5–20.6 y) entered the study. Bowel involvement was evaluated by ileocolonoscopy and specific IBD serologic markers. To evaluate disease activity, Paediatric Crohn's Disease Activity Index (PCDAI), terminal ileum wall thickness detected at ultrasonography (US), 99mTechnetium labelled autologous White Cell Scan (Tc‐WCS) and barium meal with follow‐through were investigated. Results: Ileocolonoscopy and histology examination revealed variable degrees of bowel involvement in all patients. The results of serologic markers were indicative of a Crohn's‐like ileocolitis. US and Tc‐WCS, could clearly define patients with severe inflammatory involvement, but failed to identify all patients with mild to moderate disease. For the most severely affected patients, anti‐inflammatory agents and steroids were prescribed, whereas nutritional therapy with polymeric formula and antibiotics were assumed by two other patients and antibiotics only by one patient. Granulocyte colony‐stimulating factor (G‐CSF) was prescribed to all patients. Ileocolonoscopy and histology data improved in all patients. The assumption of G‐CSF and/or gastric drip feeding (g.d.f.) was inversely associated with the PCDAI results (p < 0.05). Conclusion: IBD is common in patients affected by GSDIb independently of the severity of gastrointestinal signs and symptoms. Different therapeutic approaches can be used according to the severity of IBD. G‐CSF treatment and g.d.f. can be protective factors for IBD.
Simultaneous voiding cystourethrography and voiding urosonography reveals utility of sonographic diagnosis of vesicoureteral reflux in children
Authors: Nakamura M , Shinozaki T , Taniguchi N , Koibuchi H , Momoi M , Itoh K 
Published: August 2010

Aim: To evaluate the diagnostic potential of voiding urosonography (VUS) compared with fluoroscopic voiding cystourethrography (VCUG) under identical conditions and to evaluate potential reasons for false‐negative VUS results, particularly regarding bladder concentrations of the US contrast agent, Levovist. Methods: Fifty‐six paediatric patients (M/F 34/22, mean age 2.3 y, age range 1 mo‐14 y) underwent simultaneous VUS and VCUG under identical conditions. The bladder was filled by simultaneous administration of Levovist and the X‐ray contrast medium, DIP Conray. Levovist concentrations in bladders were calculated using amounts of Levovist injected and total DIP Conray infused when reflux was first observed in either procedure. Results: Sensitivities of VUS and VCUG for detection of vesicoureteral reflux (VUR) were both 86%, assuming that VUR detected by either method represented a true‐positive, and no reflux by either method represented a true‐negative. Patients under 24‐mo of age displayed a better VUS sensitivity, of 94%. Levovist concentrations in bladders ranged from 1.8% to 23%, with older children tending to demonstrate increased bladder capacity and lower concentration. All VUS false‐negative units displayed Levovist bladder concentrations of less than 5%. Conclusion: The present simultaneous study suggests that: 1) the two techniques demonstrate similar sensitivity for detection of reflux; 2) sustained Levovist bladder concentrations of below 5% may not allow detection of reflux on VUS; and 3) VUS represents a suitable technique, particularly for small children whose bladder capacity is not so large.
High body mass index, asthma and allergy in Swedish schoolchildren participating in the International Study of Asthma and Allergies in Childhood: Phase II
Authors: Mai X‐M , Nilsson L , Axelson O , Bråbäck L , Sandin A , Kjellman N‐IM , Björkstén B 
Published: August 2010

Aim: To assess the relationship between high body mass index (BMI) and asthma and atopic manifestations in 12‐y‐old children. Methods: The relationship between high BMI and asthma symptoms was studied in 457 sixth‐grade children, with (n= 161) and without (n= 296) current wheeze. High BMI was defined as ±75th percentile of gender‐specific BMI reference values for Swedish children at 12 y of age; overweight as a subgroup of high BMI was defined as ±95th percentile. Children with a BMI >75th percentile served as controls. Questionnaires were used to assess asthmatic and allergic symptoms, and bronchial hyperresponsiveness was assessed by hypertonic saline provocation tests. Results: Current wheeze was associated with high BMI after adjustment for confounding factors (adjusted OR 1.7, 95% CI 1.0–2.5) and overweight had an even more pronounced effect (adjusted OR 1.9, 95% CI 1.0–3.6). In addition, asthma severity was associated with high BMI, as evaluated by the number of wheezing episodes during the previous 12 mo among the wheezing children (adjusted OR 2.0, 95% CI 1.0–4.0). There was also an association between high BMI and the presence of eczema in wheezing children (adjusted OR 2.2, 95% CI 1.0–4.6). However, high BMI was not significantly associated with hay fever, positive skin prick tests or bronchial hyperresponsiveness. Conclusion: The study confirms and extends a previously observed relationship between BMI and the presence of wheezing and asthma.
Short‐term ceftriaxone therapy for treatment of severe non‐typhoidal Salmonella enterocolitis
Authors: Lin TY , Chiu CH , Lin PY , Wang MH , Su LH , Lin TY 
Published: August 2010

Aim: To evaluate the clinical efficacy of a short‐course ceftriaxone therapy in the treatment of paediatric patients with severe non‐typhoidal Salmonella enterocolitis. Methods: During a 1 y period, all paediatric patients who were suspected having Salmonella enterocolitis by the presentation of bloody and/or mucoid diarrhoea with or without fever were eligible for the study. Patients with either negative stool cultures or bacteraemia were excluded. Severe enterocolitis was defined as a bloody and/or mucoid diarrhoea associated with high fever persisting for longer than 48 h and signs of moderate or severe dehydration. The patients with severe enterocolitis were assigned to treatment with ceftriaxone (50 mg kg−1 d−1) for 3–5 d, while the rest were given supportive treatment only. Before treatment all study patients received blood testing for white blood cell (WBC) count, C‐reactive protein (CRP) level and blood culture. The duration of the fevers was recorded. Patients were followed up after clinical recovery for the possibility of relapse. Results: Seventy‐three patients with culture‐confirmed Salmonella enterocolitis without bacteraemia were analysed. The duration of fever was longer in severe cases who were treated with ceftriaxone than those who were not. However, rapid defervescene was found after short‐course ceftriaxone therapy in those patients with severe enterocolitis. CRP was significantly higher in severe cases. There was no significant difference in the WBC count between the two groups of patients. No relapse was found in these patients. Conclusion: High CRP, prolonged high fever and signs of moderate or severe dehydration appear appropriate to define severe cases of Salmonella enterocolitis. Short‐course ceftriaxone therapy is clinically beneficial to these patients. Neither clinical nor microbiological relapse was seen after therapy.
Dermal bilirubin kinetics during phototherapy in term neonates
Authors: Özkan H , Ören H , Duman N , Duman M 
Published: August 2010

Aim: To investigate dermal bilirubin kinetics during phototherapy in the presence of neonatal indirect hyperbilirubinaemia. Methods: 33 neonates with non‐haemolytic indirect hyperbilirubinaemia, who required phototherapy, were included in the study. Phototherapy modules containing four normal and four blue fluorescent lamps were used during the study. The transcutaneous bilirubin index (TcBI) was measured in an area of the forehead covered by a 2.5 cm diameter opaque patch and a nearby exposed site. The TcBI obtained from patched and unpatched areas and simultaneous serum bilirubin (SB) concentrations were measured before the start of phototherapy and after 6, 12, 18, 30, 42 and 66 h of phototherapy. Results: SB concentration and the TcBI from the unpatched area decreased significantly during the first 6 h of exposure, while the TcBI obtained from the patched area decreased significantly after 12 h. The TcBI from the unpatched area was consistently lower than that from the patched area during phototherapy. After the onset of phototherapy, there was a weak, non‐significant correlation between SB concentrations and the TcBI from patched and unpatched areas. Conclusion: Phototherapy was effective for both patched and unpatched areas, but the rate of decline was slower in patched areas, only becoming significant in the second 6 h of treatment. There was no significant correlation between the levels of SB and TcBI after the onset of phototherapy, and therefore the use of TcBI cannot be recommended as a surrogate measure of SB.
Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I
Authors: Crone J , Möslinger D , Bodamer OA , Schima W , Huber WD , Holme E , Ipsiroglu S Stöckler 
Published: August 2010

In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2‐(2‐nitro‐4‐trifluoro‐methylbenzoyl)‐1,3‐cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average dosage (1 mg kg−1), liver failure improved transiently. After 4 mo of treatment, with increased body weight, the dose had decreased to 0.7 mg kg−1, and diffuse cirrhotic changes in liver parenchyma and multiple nodules were visualized by ultrasonography. Multiple nodules in the liver parenchyma were differentiated from hepatocellular carcinoma by magnetic resonance imaging (MRI) using mangafodipir trisodium as a paramagnetic liver‐specific contrast agent. Augmentation of NTBC dosage resulted in a decrease in serum α‐fetoprotein levels and in significant regression of liver nodules on MRI. Conclusion: In HTI patients with a poor response to NTBC treatment and/or development of cirrhotic changes of liver parenchyma, augmentation of the recommended NTBC dosage may result in significant improvement of symptoms.
“Maturational lag” hypothesis of attention deficit hyperactivity disorder: an update
Authors: El‐Sayed E , Larsson J‐O , Persson HE , Santosh PJ , Rydelius P‐A 
Published: August 2010

This article discusses the relationship of maturation to ADHD and hyperkinetic disorder (HKD), with an emphasis on current research in ADHD and HKD, persistence and remission of ADHD symptoms over time and brain maturational trajectories.Conclusion: ADHD is a broad, heterogeneous syndrome and only a subgroup of subjects has a diagnosis of HKD, which is a subset of individuals with severe ADHD combined subtype. Children showing symptoms above the threshold for a diagnosis of ADHD are at risk of developing comorbid conditions and increasing stress in both parents and teachers. In some subjects, ADHD symptoms can improve over time during maturation and development. These children with a diagnosis of ADHD could be viewed as showing variants of normal childhood behaviour with maturational trajectories that are lagging behind but will catch up. ADHD could therefore represent a continuum from normality at one extreme to a severe disorder, HKD according to ICD‐10, at the other extreme.
A concurrent occurrence of cutis laxa, Dandy‐Walker syndrome and immunodeficiency in a girl
Authors: Litzman J , Bučková H , Ventruba J , Holčíková A , Mikyška P , Lokaj J 
Published: August 2010

We report on a 17‐y‐old girl with inherited cutis laxa, immunodeficiency and Dandy‐Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leucopenia causing increased susceptibility to respiratory tract infections. Dandy‐Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was shown on a CT scan but with the exception of macrocrania, no typical signs or symptoms were observed at the age of 17. Loose hyperextensible skin with pendulous skinfolds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present. Conclusion: The combination of the rare disorders cutis laxa, Dandy‐Walker syndrome and immunodeficiency is reported here for the first time.
Do we need another NSAID instead of indomethacin for treatment of ductus arteriosus in preterm infants?
Authors: Leonhardt A , Seyberth HW 
Published: August 2010

Up until now indomethacin is the most extensively evaluated non‐steroidal anti‐inflammatory drug (NSAID) in neonatal medicine. If used with due consideration to the physiologic role of prostaglandins, a 90 success rate can be reached and serious adverse drug effects prevented.Conclusion: The results reported by Bellander et al. support the idea that we do not need to study other substances of the same therapeutic class, with the same target—cyclooxygenase—in the prostaglandin cascade and with a similar pharmacological profile. Instead, indomethacin treatment regimes should be further improved with respect to their efficacy and safety.
Influence of dietary intervention on growth in children with hypercholesterolaemia
Authors: Sánchez‐Bayle M , Soriano‐Guillén L 
Published: August 2010

Aim: To determine whether a moderately reduced fat diet affects longitudinal growth in children with hypercholesterolaemia with a mean duration of 7.42 ± 1.93 y. Methods: Subjects with hypercholesterolaemia, total cholesterol above 5.18 mmol/L and LDL‐cholesterol above 3.49 mmol/L (n= 144; 69 males and 75 females) from 2 to 13 y of age were studied. Patients were seen in our outpatient department for regular health check‐ups. Weight and height were measured every year. At the same time, cholesterol, triglycerides, LDL‐C, HDL‐C, A‐apoprotein and B‐apoprotein levels were analysed. Furthermore, degrees of compliance at 1 mo, 6 mo and each year after starting the dietary treatment were determined. Results: No significant change in height or weight was found after fat restriction. In contrast, significant reductions in total cholesterol, LDL cholesterol and B‐apoprotein levels of 19%, 24% and 14%, respectively, were detected. Finally, no significant differences were seen in HDL‐cholesterol, A‐apoprotein or triglycerides. Conclusions: These data support the hypothesis that growth is not influenced by moderate fat restriction in healthy children who otherwise have normal nutrition.
Postnatal adaptation of cerebral blood flow using near infrared spectroscopy in extremely preterm infants undergoing high‐frequency oscillatory ventilation
Authors: Noone MA , Sellwood M , Meek JH , Wyatt JS 
Published: August 2010

Aim: To determine cerebral blood flow using near infrared spectroscopy in extremely preterm infants undergoing high‐frequency oscillatory ventilation during the first three days of life. Low cerebral blood flow has been associated with both intra‐ventricular haemorrhage and periventricular leucomalacia. It is well established that cerebral blood flow increases over the first three days of life in extremely preterm infants who are conventionally ventilated with intermittent positive pressure ventilation. However, there is no information about cerebral blood flow in preterm babies undergoing high‐frequency oscillatory ventilation. In addition, there are concerns that high‐frequency oscillatory ventilation may be associated with an increased incidence of intra‐ventricular haemorrhage in premature infants. Methods: Thirteen appropriately grown, preterm infants of less than 28 wk gestation who were admitted to the neonatal unit at University College Hospital, London were studied using near infrared spectroscopy. Left ventricular output and right ventricular output were assessed echocardiographically. Results: Extremely preterm infants undergoing high‐frequency oscillatory ventilation have remarkably low cerebral blood flow in the first 12 h of life, median 6.7 (range 4.4‐11) mls. 100 g−1min−1 followed by an increase over the subsequent three days. Left ventricular output also increased over the first three days of life, whereas right ventricular output showed no clear relationship with time. Despite low cerebral blood flow only one infant had evidence of major cerebral injury. Conclusion: Cerebral blood flow is extremely low in this group of preterm babies. Despite this extremely low cerebral blood flow, the clinical outcome is good. There was an increase in cerebral blood flow and a corresponding increase in left ventricular output over the first few days of life.
Neonatal hypotonia: don't forget the Prader‐Willi syndrome
Authors: Trifirò G , Livieri C , Bosio L , Gargantini L , Corrias A , Pozzan G , Crinò A ,   and the Genetic Obesity Study Group of the Italian Society of Paediatric Endocrinology and Diabetology (SIEDP)
Published: August 2010

During the neonatal period the diagnosis of the Prader‐Willi syndrome (PWS) is difficult because the syndrome is expressed mainly by severe hypotonia at this age and the typical clinical features of later life are not yet present. Aim: To identify all the PWS clinical markers in severe hypotonic newborns, which could facilitate an early diagnosis of the syndrome. Methods: Twenty‐one PWS newborns (14 males and 7 females) with severe hypotonia at birth were evaluated. Paediatricians skilled in syndromology carried out a careful clinical examination. Fluorescent in situ hybridization (FISH) analysis and/or a methylation test was used to confirm the PWS clinical diagnosis. Results: The clinical diagnosis of PWS was reached at a mean age of 7.4 mo with genetic confirmation at 11 mo of life. In 12 newborns at least 3 craniofacial features were present (57%), suggesting the diagnosis of PWS. Two craniofacial dysmorphic characteristics were described in 6 newborns and only 1 in 3 cases. Cryptorchidism was monolateral in 6 and bilateral in 7 patients; in one newborn both testes were in scrotum. A micropenis was described in one patient and hypoplasia of the labia minora was reported in two females. Conclusions: Diagnosis by means of dysmorphologic evaluation is difficult in the neonatal period. The presence of severe hypotonia should always induce neonatologists to perform specific genetic tests in order to obtain an early diagnosis of PWS.
Quality of life, anxiety and concerns among statin‐treated children with familial hypercholesterolaemia and their parents.
Authors: de Jongh S , Kerckhoffs MC , Grootenhuis MA , Bakker HD , Heymans HSA , Last BF 
Published: August 2010

Aim: To assess the quality of life, anxiety and concerns among statin‐treated children with familial hypercholesterolaemia (FH) and their parents. Methods: 69 FH children on statin therapy and 87 parents (51 families) participated in this study. Quality of life of the children, and anxiety levels of both the children and their parents, were investigated using self‐report questionnaires. In addition, a questionnaire was designed to evaluate FH‐specific concerns of these children and their parents on six different topics: 1, knowledge about FH; 2, experience of the disease; 3, family communication; 4, screening; 5, diet; and 6, experience of medication therapy. Results: FH children and their parents reported no problems with regard to quality of life and anxiety. In contrast, the FH survey showed specific FH‐related concerns. One‐third of the children thought that FH can be cured, and 44% of the children suffered from the fact they have FH, but taking medication makes them feel safer (62%). The majority of the children kept a low cholesterol diet and more than 50% took care not to eat too much fat. Almost 38% of the parents experienced FH as a burden to their family and 79% suffered because their child had FH. Conclusion: These findings show that statin‐treated children with FH and their parents did not report affected psychosocial functioning, but did show specific FH‐related concerns.
Coronary artery changes in patients with Kawasaki disease
Authors: Tulloh RMR , Wood LE 
Published: August 2010

Kawasaki disease (KD) is an acute, self‐limiting, systemic vasculitis of unknown aetiology, which most commonly occurs in children aged 6 mo to 5 y, with a peak incidence at 9–11 mo. The inflammatory process preferentially involves the coronary arteries, potentially resulting in coronary arteritis, aneurysmal lesions, arterial thrombotic occlusion and sudden death. Kawasaki disease is the most common cause of acquired coronary vessel abnormalities in children. The cause of KD is not known, but evidence is presented for an inflammatory response and a genetic predisposition. The diagnostic tests are not yet defined, but treatment with immunoglobulin and aspirin is effective at reducing the risk of cardiac complications from 25% to 4.7% in the UK. Sequelae may occur, either acutely with myocardial, endocardial or pericardial inflammation, or many years after the original illness. There may be abnormalities of myocardial blood flow as assessed by MRI, radio‐nucleide studies or echo Doppler. Such abnormalities of coronary arteries may require ongoing medication, interventional catheterization or even cardiac surgery. Conclusion: In the future, we hope to have more accurate diagnostic tests or prophylaxis against the disease, in addition to improved means of determining the susceptibility to or presence of long‐term complications.
Increasing incidence of childhood thyrotoxicosis in a population‐based area of central Sweden
Authors: Forssberg M , Arvidsson C‐G , Engvall J , Lindblad C , Snellman K , Aman J 
Published: August 2010

Aim: To study the incidence, prevalence and clinical characteristics of childhood thyrotoxicosis in a population‐based area comprising five counties in central Sweden. Methods: Retrospective analysis of the medical records of all children below 16 y of age with thyrotoxicosis during a 10‐y study period. Results: Forty‐six children were identified with thyrotoxicosis. The median age at onset was 11.7 y and 85% were females. At the end of the study period on 31 December 1999, the prevalence was 0.08 per 1000. The mean annual incidence was four times higher in the second 5‐y period than in the first (2.7 and 0.7 per 100000, respectively; p < 0.001). A first‐degree relative with thyrotoxicosis was found in 21% of the children and 11/46 children (24%) showed autoimmune‐related co‐morbidity. Increased heart rate was observed in 95%, goitre in 67% and exophthalmos in 33% of the children. TSH was completely suppressed and free T4 was clearly above the upper reference limit in all children. TSH receptor‐stimulating antibodies and peroxidase antibodies were observed in 80% and 71% of the children, respectively. Conclusion: This study indicates an increase in the incidence of childhood thyrotoxicosis in a population‐based area of central Sweden. A prospective study aimed at identifying specific aetiological risk factors for development of thyrotoxicosis has been initiated.