bluuebunny/crossref_metadata_2025_split huggingface dataset:
New findings in partial trisomy 16q: clinical report
Authors: Sousa B , Rocha G , Doria S , Alves JR , Guedes B , Guimarães H 
Published: August 2010

Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia.Conclusion: Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.
Early hypocarbia of preterm infants: Its relationship to periventricular leukomalacia and cerebral palsy, and its perinatal risk factors
Authors: Murase M. , Ishida A. 
Published: August 2010

Abstract Aim: To clarify clinical interactions between early hypocarbia, periventricular leukomalacia (PVL) and cerebral palsy of preterm infants. Methods: Serial measurements of PaCO2 using arterial blood samples at 3, 6, 12, 24 and 48 h of life were performed for 115 very‐low‐birthweight infants admitted between 1995 and 1999. Severe early hypocarbia, defined when at least two of five PaCO2 values showed 3.3 kPa or less, was observed in eight infants (hypocarbia group). Preterm PVL was diagnosed by serial ultrasonographic examinations and cranial magnetic resonance imaging, and subsequently classified into early‐onset PVL diagnosed within 14 d, or late‐onset PVL after 14 d. Perinatal risk factors for early hypocarbia were investigated from the mothers' records and interviews with obstetricians. Results: The average birthweight in the hypocarbia group was significantly smaller than that in the control group (p<0.01). The occurrence of PVL in the hypocarbia group was not different from that in the control group. Early hypocarbia was significantly related to late‐onset PVL (p<0.001), but not related to early‐onset PVL. The incidence of cerebral palsy in the hypocarbia group was significantly higher than that in the control group (p<0.001). Multivariate analysis showed that both low birthweight and number of maternal previous abortions were predictive for early hypocarbia. Conclusion: Early hypocarbia of preterm infants in our hospital was significantly associated with both cerebral palsy and late‐onset PVL, but not with early‐onset PVL. The background of the three clinical events, early hypocarbia, PVL, and cerebral palsy, may not be identical in human newborns.
Pattern of drug prescription for children under the age of four years in a population in Greenland
Authors: Hahn G. H. , Koch A. , Melbye M. , Mølbak K. 
Published: August 2010

Abstract Aim: To provide knowledge of drug prescription patterns in general and of antibiotics in particular, and number of consultations and diagnoses leading to prescriptions among children aged 0–4 y in the Arctic. Methods: A population‐based cohort of children aged 0–4 y, living in Sisimiut, the second largest town in Greenland, was followed from August 1996 to December 1998. Information on consultations, diagnoses and drug prescriptions was obtained from medical files at the local health centre. Results: Among 280 participating children, the mean number of consultations per child was 5.64 per year at risk (range 0–17), of prescriptions 4.02 per year at risk (range 0–17.2), and of prescribed systemic antibiotics per child 1.47 per year at risk (range 0–7.25). Systemic antibiotics formed the therapeutic subgroup most often issued for children, constituting 33.5% of all prescriptions. Of the systemic antibiotics, 50% were broad‐spectrum penicillins, 34% penicillin V, 14% macrolides and 2% other antibiotics. The most frequent diagnoses leading to drug prescription in general as well as to prescription of systemic antibiotics were respiratory tract infections, accounting for 59% of all prescriptions and 81% of prescriptions of systemic antibiotics. Children aged ½–1 y of age had the highest prescription rates of drugs in general and of systemic antibiotics. Conclusions: Compared to other countries, prescription rates of drugs in general and of systemic antibiotics in particular were high. The use of broad‐spectrum penicillins was higher than recommended in Greenlandic national guidelines, and might be reduced.
Caroli's disease in children: Is it commonly misdiagnosed?
Authors: Senyüz O. F. , Yesildag E. , Kuruoglu S. , Yeker Y. , Emir H. 
Published: August 2010

Abstract Aim: Caroli's disease is a simple form of intrahepatic bile duct ectasia. It can be complicated with the involvement of liver parenchyma and portal hypertension. Herein, the difficult management of delayed presentation of Caroli's disease is reported. Methods and results: We report on four different forms of clinical presentation of Caroli's disease: an infant with fulminant liver failure, a teenager with persistent biliary fistula, a boy with hypersplenism in the face of portal hypertension and a girl with variceal bleeding. Conclusions: Caroli's disease must be included in the differential diagnosis of cystic lesions in the liver. Delayed diagnosis of Caroli's disease is difficult to manage and appropriate investigations are warranted before planning a surgical approach.
Misleading diagnosis of partial N‐acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis
Authors: Heckmann M. , Wermuth B. , Häberle J. , Koch H. G. , Gortner L. , Kreuder J. G. 
Published: August 2010

AbstractN‐acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder. Most of the patients present in the early neonatal period with severe hyperammonaemia and marked neurological impairment. We report on a Turkish family with an index patient, who died due to hyperammonemia, and another three siblings, who received a prophylactic treatment consisting of arginine hydrochloride, sodium benzoate and phenylbutyrate directly after birth. Enzyme measurement in a liver biopsy suggested a diagnosis of partial NAGS deficiency in all three siblings. Thereafter, N‐carbamylglutamate was added to the treatment. None of the patients developed hyperammonaemia. After the human NAGS gene was identified, mutation analysis revealed that the consanguineous parents and two siblings were heterozygous for a private mutation (W484R), whereas the wild‐type gene was found in the eldest sibling. Therapy was stopped without any deterioration of urea cycle function. Conclusion: Diagnosis of partial NAGS deficiency based on enzyme measurement may be misleading and should be completed by mutation analysis.
Can cry in the newborn be used as an assessment of pain?
Authors: Schollin Jens 
Published: August 2010

AbstractPain in the neonate is a complex subject. The assessment of pain should be simple and clinically usable. So far, the scales that have been used to assess pain are too time consuming and complex. The analysis of cry in a simple manner, as described in this issue of Acta Paediatrica by Bellieni et al., could be used in a simple and effective way at the bedside. Conclusion: Since sick and premature newborns are not studied, the scale needs further confirmation.
The effect of nebulized budesonide treatment in children with mild to moderate exacerbations of asthma
Authors: Sekerel Bulent E , Sackesen Cansin , Tuncer Ayfer , Adalioglu Gonul 
Published: August 2010

Abstract Background: The role of inhaled corticosteroids in the treatment of acute asthma remains a controversial subject. Objective and methods: A randomized, double‐blind, placebo‐controlled parallel‐group clinical trial on the effect of a 5‐d course of nebulized budesonide treatment in children with mild to moderate exacerbation of asthma was performed. The need for systemic corticosteroid intervention was evaluated as the primary outcome measure. Results: Sixty‐seven children aged 6 to 15 y were enrolled. During the emergency department phase, they received three nebulizations of either budesonide(1 mg/dose) or placebo, and then in the home phase of the study, they continued their study medications twice a day for another 4 d. Though the level of improvement in the emergency department phase was similar between the groups given either budesonide or placebo treatments (6.8±1.9% vs 4.0±1.5%, p=0.30, respectively), nebulized budesonide caused a trend towards a benefit in terms of the need for systemic corticosteroid intervention (2/33 vs 7/34, p=0.07), but not in secondary outcome measures. Conclusion: Though we show a tendency towards a benefit with nebulized budesonide in children with mild to moderate exacerbations in terms of prevention of progression of the illness, the documented benefit is small and includes, at least, consideration for clinical significance, cost‐effectiveness, impracticality and safety.
Significant improvement of eczema with skin care and food elimination in small children
Authors: Norrman Gunilla , Tomičić Sara , Fagerås Böttcher Malin , Oldaeus Göran , Strömberg Leif , Fälth‐magnusson Karin 
Published: August 2010

Abstract Aim: To evaluate common methods of investigation and treatment in children younger than 2 y of age with eczema, with or without sensitization to food allergens. Methods: One hundred and twenty‐three children younger than 2 y of age with eczema and suspected food allergy were included in this prospective study. The children underwent skin‐prick test with cow's milk, fresh hen's egg white and wheat. Specific IgE to milk and egg white was analysed. The eczema extent and severity was estimated with SCORAD before and after treatment. Children with a positive skin‐prick test were instructed to exclude that food item from their diet. All children were treated with emollients and topical steroids when needed. Results: Sixty‐two of the children were skin‐prick positive to at least one of the allergens; 62% had mild, 30% moderate and 8% severe eczema at their first visit. After treatment, 90% had mild, 10% moderate and 0% severe eczema. Forty‐six per cent of the children had circulating IgE antibodies to milk or egg white. Ten per cent had specific IgE but negative skin‐prick test to the same allergen. This subgroup improved their eczema significantly without elimination diet. Conclusion: The conventional treatments for children with eczema, i.e. skin care and food elimination, are effective. The beneficial effect of skin care as the first step should not be neglected, and it may not be necessary to eliminate food allergens to relieve skin symptoms in all food‐sensitized children with eczema.
Growth hormone treatment in 35 prepubertal children with achondroplasia: A five‐year dose‐response trial
Authors: Thomas Hertel Niels , Eklöf Ole , Ivarsson Sten , Aronson Stefan , Westphal Otto , Sipilä Ilkka , Kaitila Ilkka , Bland Jon , Veimo Dag , Müller Jørn , Mohnike Klaus , Neumeyer Lo , Ritzen Martin , Hagenäs Lars 
Published: August 2010

Abstract Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Aim: In a 5‐y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia. Methods: Patients were randomized to either 0.1 IU/kg (n=18) or 0.2 IU/kg (n=17) per day. GH treatment was interrupted for 12 mo after 2 y of treatment in prepubertal patients to study catch‐down growth. Mean height SDS (HSDS) at start was −5.6 and −5.2 for the low‐ and high‐dose groups, respectively, and mean age 7.3 and 6.6 y. Results: Mean growth velocity (baseline 4.5/4.6 cm/y for the groups) increased significantly by 1.9/3.6 cm/y during the first year and by 0.5/1.5 cm/y during the second year. During the third year, a decrease of growth velocity was observed at 1.9/1.3 cm/y below baseline values. HSDS increased significantly by 0.6/0.8 during the first year of treatment and in total by 1.3/1.6 during the 5 y of study. Sitting height SDS improved significantly from −2.1/−1.7 to −0.8/0.2 during the study. Body proportion (sitting height/total height) or arm span did not show any significant change. Conclusion: GH treatment of children with achondroplasia improves height during 4 y of therapy without adverse effect on trunk–leg disproportion. The short‐term effect is comparable to that reported in Turner and Noonan syndrome and in idiopathic short stature.
Meconium aspiration induces neuronal injury in piglets
Authors: Aaltonen Minna , Soukka Hanna , Halkola Lauri , Kalimo Hannu , Holopainen Irma E , Kääpä Pekka O 
Published: August 2010

Abstract Aim: Meconium aspiration‐induced hypertensive lung injury, especially when connected with perinatal asphyxia, has been associated with brain damage. We aimed to determine the neuronal injury induced by pulmonary meconium contamination alone and with concurrent asphyxia. Methods: 36 anaesthetized and ventilated newborn piglets were haemodynamically monitored for 6 h. Seven piglets without concurrent asphyxia and seven piglets with asphyxia were instilled with a bolus of human meconium intratracheally. Seven piglets had only asphyxia and 15 piglets served as controls. The brains were studied histologically. Results: Meconium aspiration did not change systemic haemodynamics acutely, while its combination with asphyxia diminished the abrupt postasphyxic systemic hypertensive peak and resulted in a transient increase in carotid artery flow, not seen after isolated asphyxia. Systemic pressure declined after 4 h in all insulted groups, but only isolated asphyxia was associated with a sustained decrease in carotid artery flow. Arterial oxygenation remained normal, except during the acute insults. Brain examination after meconium instillation indicated neuronal injury, especially in the CA3 region of the hippocampus. Asphyxia resulted in neuronal injury in the cortical, cerebellar and hippocampal hilus regions. Conclusion: Severe meconium aspiration itself may result in hippocampal neuronal injury.
Associations between voluntary and involuntary forms of perinatal loss and child maltreatment among low‐income mothers
Authors: Coleman Priscilla K , Maxey Charles D , Rue Vincent M , Coyle Catherine T 
Published: August 2010

Abstract Aim: This study explored maternal history of perinatal loss relative to risk of child physical abuse and neglect. Methods: The 518 study participants included 118 abusive mothers, 119 neglecting mothers, and 281 mothers with no known history of child maltreatment. Interviews and observations were conducted in the participants’ homes, and comparisons were made between women without a history of perinatal loss and women with one and multiple losses relative to risk for child maltreatment. Results: Compared to women with no history of perinatal loss, those with one loss (voluntary or involuntary) had a 99% higher risk for child physical abuse, and women with multiple losses were 189% more likely to physically abuse their children. Compared to women with no history of induced abortion, those with one prior abortion had a 144% higher risk for child physical abuse. Finally, maternal history of multiple miscarriages and/or stillbirths compared to no history was associated with a 1237% increased risk of physical abuse and a 605% increased risk of neglect. Conclusion: Perinatal loss may be a marker for elevated risk of child physical abuse, and this information is potentially useful to child maltreatment prevention and intervention efforts.
Allergic colitis presenting within the first hours of premature life
Authors: Faber Marianne R , Rieu Paul , Semmekrot Ben A , van Krieken J Han J M , Tolboom Jules J M , Draaisma Jos M TH 
Published: August 2010

AbstractA prematurely born infant developed rectal blood loss several hours after birth, after his first formula feeding. Discontinuing the feeding resolved symptoms, but after resuming feeding rectal blood loss reappeared. There were no signs of necrotizing enterocolitis. Suspecting cow's milk allergy, the feeding was changed to a casein‐based protein hydrolysate, without effect. Meanwhile, laboratory tests indicated cow's milk allergy. Symptoms only resolved after introducing an amino acid‐based formula supporting a definite diagnosis of cow's milk‐induced allergic colitis. This is the first description of a premature infant with symptoms of allergic colitis, appearing within hours after birth, suggestive of intrauterine sensitization. The exact mechanisms of sensitization remain obscure. Conclusion: Cow's milk‐induced allergic colitis can occur after the first feed, even in a prematurely born neonate. This is most probably due to intrauterine sensitization, and should be included in the differential diagnosis of rectal blood loss.
Physical activity and mental health in schoolchildren: A complicated relationship
Authors: Lagerberg Dagmar 
Published: August 2010

AbstractAccording to a study by Parfitt and Eston, physical activity was positively associated with child mental health and self‐esteem. In this commentary, gender differences, causal links and implications for prevention are discussed. Conclusion: The relationship between physical activity and mental health is not as simple as to say that activity will invariably lead to improved mental health. For youngsters to be engaged in physical exercise, it is important that the needs of the particular child be taken into account. Forced and frightening activities should be avoided. The context should be one of enjoyment rather than of harsh discipline and skill‐dependent games where many children are apt to fail.
Laparoscopic nephrectomy for congenital benign renal diseases in children: Comparison with adults
Authors: Hyeon Ku Ja , Byun Seok‐Soo , Choi Hwang , Hoe Kim Hyeon 
Published: August 2010

Abstract Aim: To compare the results of laparoscopic nephrectomy for congenital benign renal diseases in children and adults. Methods: From August 1996 to February 2003, laparoscopic nephrectomies were performed on 26 children and 60 adults. Of these patients, 33 patients (17 children, 16 adults) with comparable diseases were included in the analysis. Results: Disease was on the right side in 16 patients and on the left in 17. Operative and convalescence parameters, including operative time, blood loss, transfusion rate, conversion rate to open surgery, resumption of oral intake, hospital stay, and complication rate, were evaluated in both groups. Median operative time in the paediatric group was 140 min compared to 147.5 in adults (p=0.626). The estimated blood loss was significantly different (median 25 and 75 cm3 in children and adults, respectively; p<0.001). Other operative and convalescence parameters were not statistically different. However, whereas no child required a blood transfusion, three adults (18.8%) did. No major perioperative complications occurred in the paediatric group, but open surgical exploration was needed due to retroperitoneal bleeding in a single adult. Conclusion: Our findings indicate that laparoscopic nephrectomy for congenital benign disease in children is achieved safely and that the modality offers additional advantages in children as compared to adults.
Physiological and pathological aspects of GSH metabolism
Authors: Njälsson Runa , Norgren Svante 
Published: August 2010

AbstractThe antioxidant glutathione is found in low levels in diseases in which increasing evidence implicate oxidative stress in the development of the disease, for example retinopathy of prematurity, necrotizing enterocolitis, bronchopulmonary dysplasia, patent ductus arteriosus and asthma. Glutathione is metabolized in the γ‐glutamyl cycle, which involves six different enzymes. The synthesis of glutathione is a two‐step process in which the first step is catalysed by γ‐glutamylcysteine synthetase and the second step by glutathione synthetase. Glutathione synthetase deficiency is an autosomal recessive disease and the most common inborn error of the γ‐glutamyl cycle. Approximately 25% of patients with hereditary glutathione synthetase deficiency die during childhood. Patients present with a clinical picture ranging from compensated haemolytic anaemia to a complex disorder with additional symptoms like 5‐oxoprolinuria, metabolic acidosis and central nervous system impairment. Even though the correlation between phenotype and genotype in these patients is complex, an indication of the phenotype can be based on the type of mutation involved. Also, there is a correlation between the glutathione synthetase activity and the level of glutathione in cultured fibroblasts. Inborn errors have also been described in three additional steps of the γ‐glutamyl cycle, namely γ‐glutamyltranspeptidase, 5‐oxoprolinase and γ‐glutamylcysteine synthetase. Conclusion: The range of disorders in patients with inborn errors in the metabolism of glutathione illustrates the intricate metabolism of glutathione and its involvement in numerous essential processes in the cell. By studying these patients, further insight into the functions and metabolism of glutathione can be achieved.
Is procalcitonin useful in early diagnosis of serious bacterial infections in children?
Authors: Thayyil Sudhin , Shenoy Mohan , Hamaluba Mainga , Gupta Anil , Frater John , Verber Ian G. 
Published: August 2010

Abstract Aim: To compare diagnostic accuracy of procalcitonin for early diagnosis of serious bacterial infection (SBI) in children presenting with fever and no focus of infection. Methods: Prospective, observational study involving 72 children (1–36 mo) presenting to the paediatric units of two university hospitals. All children had blood cultures, urine cultures, white blood cell counts (WBC), chest X‐ray, C‐reactive protein (CRP) and procalcitonin (PCT) done at presentation. Results: Eight (11.1%) children had SBI (1 pneumonia, 2 meningitis, 4 septicaemia/occult bacteraemia, 2 pyelonephritis), 19 (26.4%) had possible bacterial infection (received antibiotic treatment, but no organism grown) and 45 (62.5%) had viral or possible viral infection (virus isolated and/or uneventful recovery without antibiotics). PCT (>2 ng/l), CRP (>50 mg/l) and McCarthy's score (<9) had sensitivities and specificities of 50%/85.9%, 75%/68.7% and 87.5%/67.2%, respectively. Negative and positive likelihood ratios for CRP (>50 mg/l), PCT (>2 ng/l), white blood cells (>15×105/l) and McCarthy's score (<9) were 0.36/2.4, 0.58/3.5, 0.94/1.1 and 0.19/2.7, respectively. A combination of PCT, CRP and WBC generated a positive likelihood ratio of 10.6, changing the post‐test probability to 54%. Conclusion: For early diagnosis of SBI in children presenting with fever and no focus of infection, the diagnostic utility of procalcitonin is similar to the traditional markers infection and clinical scoring. While a low procalcitonin level cannot be used to exclude SBI in this population, a combination of PCT, CRP and WBC may be more useful in predicting SBI.
Pathophysiology of neonatal brain lesions: Lessons from animal models of excitotoxicity
Authors: Mesplès B , Plaisant F , Fontaine RH , Gressens P 
Published: August 2010

Abstract Aim: The pathophysiology of perinatal brain lesions is probably complex and multifactorial. The development and characterization of distinct yet complementary animal models should help to unravel the cellular and molecular mechanisms underlying perinatal brain lesions. This paper reviews experimental data obtained in animal models of neonatal excitotoxic brain lesions that closely mimic some of the lesions found in human cerebral palsy. Conclusion: Available data point to a key role for brain macrophages and oligodendrocytes in neonatal rodent excitotoxic brain lesions and underline the impact of cytokines on these lesions.