bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenylalanine hydroxylase mutations and phenylalanine‐tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency
Authors: Verduci E , Riva E , Agostoni C , Leviti S , Fiori L , Lammardo AM , Biondi ML , Giovannini M 
Published: August 2010

The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case‐control study. Parents of patients affected by PAH deficiency (n= 25) detected through the Italian Neonatal Screening Program and referred from January 1994 to June 2000, and parents of healthy children were investigated. In total, 68 subjects without any disease, 34 hyperphenylalaninaemia (HPA) heterozygous parents and 34 age‐ and gender‐matched controls, were recruited. Plasma concentrations of Phe and Tyr in fasting and semifasting (1600 mg Phe oral load) conditions were the main outcome measures. DNA analysis for PAH mutations was performed in all 68 subjects. Compared with controls, heterozygotes showed higher fasting and semifasting Phe concentrations (p > 0.0001), lower semifasting Tyr concentrations (p= 0.015), lower Tyr variations (p= 0.003) and a higher Phe/Tyr ratio (p > 0.0001) in switching from fasting to semifasting conditions. Heterozygotes carrying a severe mutation showed semifasting plasma Tyr concentrations lower than controls (p= 0.019) but not significantly different from Tyr levels found in non‐severe carriers (p= 0.197). The Tyr variations were minor in severe carriers than controls (p > 0.001) and non‐severe carriers too, although with lower significance (p= 0.089). In six carriers of A403V mutation, parents of mild hyperphenylalaninaemics on an unrestricted diet, significant differences in variations from fasting to semifasting conditions were found compared with parents of patients on a diet. Conclusion: Although the great heterogeneity of PAH mutations limits any general conclusion, the results suggest that monitoring plasma Tyr variations may be more sensitive than plasma Phe in assessing the severity of PAH mutations in HPA heterozygotes.
Perinatal water intoxication due to excessive oral intake during labour
Authors: Johansson S , Lindow S , Kapadia H , Norman M 
Published: August 2010

The increased body water in pregnant women and the birth‐related activation of water‐sparing systems contribute to a high risk of perinatal water intoxication if the mother drinks too much water during labour. This study reports on four newborn term infants and one mother presenting with life‐threatening symptoms due to hyponatraemia from excessive oral intake during labour. Awareness of this diagnosis in the delivery unit is very important, because the clinical picture may mimic that of pre‐eclampsia or dehydration. Conclusion: Guidelines are proposed to prevent and treat perinatal water intoxication due to excessive oral intake during labour.
Attitudes of enuretic children towards their illness
Authors: Wolańczyk T , Banasikowska I , Zlotkowski P , Wińniewski A , Paruszkiewicz G 
Published: August 2010

The aim of this study was to establish the attitudes of enuretic children towards their illness and to assess the correlation between children's attitudes and biological and medical variables describing the clinical picture and course of enuresis. Fifty children were included (31M, 19F), aged 8–18 y (mean 12.74 y), all with the diagnosis of enuresis. The reference groups consisted of 60 children with asthma and 40 children with chronic heart disease, aged 8—12 y. The Polish version of the Child Attitude Toward Illness Scale (CATIS) was administered to all the children and structured interviews concerning demographic and medical data were conducted with the parents. There were no significant differences in median CATIS scores between the subgroups divided according to age, type of enuresis and family history of enuresis. There was no significant correlation between the CATIS score and frequency of enuresis and number of therapeutic failures. The girls had significantly lower median CATIS scores than the boys (p= 0.03). The difference in median CATIS scores between genders was significant only for the older group aged 14–18 y. The older girls had the lowest CATIS scores. Enuretic children were found to have statistically significantly more negative attitudes towards their illness than children with asthma (p= 0.006) and children with chronic heart disease (p= 0.067). Conclusion: Enuretic children had more negative feelings about their illness than children with other chronic conditions. This negative attitude was not related to demographic or clinical data except for gender. The adolescent girls demonstrated the most negative attitude towards enuresis.
Risk factors of back pain frequency in schoolchildren: a search for explanations to a public health problem
Authors: Kristjansdottir G , Rhee H 
Published: August 2010

This study examined physical, behavioral and social factors associated with schoolchildren's back pain. Factors associated with back pain were also identified using a stepwise regression method. The study was based on a self‐administered questionnaire survey of a random national sample of 2173 Icelandic 11–12 and 15–16‐y‐old schoolchildren. It found that older subjects tended to report back pain more frequently than younger children. Back pain showed significant associations with different aspects of physical condition such as chronic health conditions, tiredness and physical fitness. A number of behavioral factors including participation in sports, television viewing, eating habits and smoking also had a relationship with back pain. Finally, children with lower social support were more likely to experience back pain. Conclusion: Overall, four major factors (age, morning tiredness, eating habits and parental support) emerged as factors associated with back pain in the study subjects. These results highlighted the roles of lifestyle and social factors in the experience of back pain in schoolchildren.
Acta Paediatrica 50 years ago
Authors: BYLLENSTEN Lars J. , HELLSTRÖM BO E. , Zetterström Rolf 
Published: August 2010

SummaryThe following changes have been found in the eyes of 1–3 weeks old fullterm mice, who were exposed to pure oxygen intermittingly from birth: haemorrhages, retinal folding and formation of a vascular, cellular and fibrous tissue in the vitreous body.
Subacute hepatic failure after the perinatal period with haemochromatotic siderosis at the age of 11 months: an unusual perspective on neonatal haemochromatosis
Authors: Ku SW , Luk ISC , Yuen MK , Wong CP 
Published: August 2010

Neonatal haemochromatosis is a rare disease characterized by the early onset of liver failure, a rapidly deteriorating clinical course and high mortality. An unusual case is presented of subacute hepatic failure in which autopsy findings at the age of 11 mo showed a haemochromatotic pattern of siderosis. Despite the similarity in the pattern of iron distribution to neonatal haemochromatosis, the clinical course was highly atypical in that the infant had later and milder presentation at 1 mo of age and slow progression into liver failure. This case illustrates the heterogeneous nature of the haemochromatotic phenotype in newborns and infants.Conclusion: The entity “neonatal haemochromatosis” may reflect a spectrum of diseases with diverse aetiologies. Fulminant liver disease in the newborn period can also result in similar pattern of iron distribution.
Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data
Authors: Dehout F , Schwarting A , Beck M , Mehta A , Ricci R , Widmer U ,   on behalf of the FOS Investigators
Published: August 2010

Progressive deposition of globotriaosylceramide results in severe complications involving the kidney, heart and brain in both hemizygous male and heterozygous female patients with Fabry disease. Analysis of renal data from FOS ‐ the Fabry Outcome Survey ‐ suggests that enzyme replacement therapy with agalsidase alfa can significantly improve renal function in patients with Fabry disease, at least in those with a mild decrease in glomerular filtration rate, and may also be able to slow down the natural decline in renal function in patients with a moderate reduction in glomerular filtration rate.Conclusion: Initial results from the large cohort of patients within FOS indicate that treatment with agalsidase alfa has beneficial effects on kidney function in patients with Fabry disease.
Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
Authors: Brady RO 
Published: August 2010

Over the past 40 years there has been remarkable development in our understanding of the pathophysiology of lysosomal storage disorders. This review describes the research carried out on the sphingolipid storage disorders from the first demonstration of the underlying metabolic abnormality in Gaucher disease to the development of enzyme replacement therapy for Gaucher and Fabry diseases. Initial developments in gene therapy are also described. Conclusion: The introduction of enzyme replacement therapy has provided a lifeline for patients with Gaucher or Fabry disease. It is anticipated that future developments, including gene therapy, will provide additional therapeutic options.
Hearing improvement in patients with Fabry disease treated with agalsidase alfa
Authors: Hajioff D , Goodwin S , Quiney R , Zuckerman J , MacDermot KD , Mehta A 
Published: August 2010

Aim: To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa. Methods: Fifteen male patients with Fabry disease were enrolled in a randomized, double‐blind study and received placebo (n= 8) or ERT (n= 7) with agalsidase alfa for 6 months. This was followed by an open‐label extension of 36 months thus far. Alongside this trial, an additional eight men and two women have so far received open‐label ERT for between 6 and 30 months. Pure‐tone audiometry, impedance audio‐metry and otoacoustic emission testing were performed at 0 (baseline), 6, 18, 30 and 42 months. Results: Nine patients (36%) had bilateral and ten (40%) had unilateral high‐frequency sensorineural hearing loss (SNHL). Three (12%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only five patients (20%) had normal hearing. The high‐frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 6.3 dB (p < 0.0001, Wilcoxon matched‐pairs). This hearing loss subsequently improved above baseline by 1.5 dB at 18 months (p = 0.07), by 5.0 dB at 30 months (p= 0.006) and by 4.0 dB at 42 months (p= 0.01). Conclusion: Significant hearing loss, usually high‐frequency SNHL, is a common manifestation of Fabry disease in adults. α‐Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement, however, is gradual, suggesting the need for long‐term ERT.
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?
Authors: Suzuki K , Ezoe T , Tohyama J , Matsuda J , Vanier MT , Suzuki K 
Published: August 2010

Spontaneously occurring genetic lysosomal storage diseases are as rare in other mammalian species as in man. However, the advent of gene targeting technology has revolutionized the state of animal models of genetic diseases. Nearly all lysosomal storage diseases known in man have been duplicated in the mouse. The technology now allows, not only complete inactivation of endogenous genes, but also the introduction of essentially any type of mutation. These animal models can overcome many of the limitations inherent in studies of human patients ‐ rarity of the disease, extremely complex genetic background and logistical and ethical constraints in the design and execution of experiments with human subjects. For example, genetic manipulations of germ cells or cross‐breeding experiments between two mutants are readily feasible with animal models. Two major areas of the utility of animal models are the clarification of the pathophysiology/pathogenetic mechanism of disease and the exploration of therapeutic approaches. Examples of experiments using animal models of lysosomal storage disease are presented, primarily from studies undertaken in our own laboratory. Conclusion: Animal models have proved invaluable in extending our knowledge of the lysosomal storage diseases and exploring potential therapies.
Metachromatic leukodystrophy: consequences of sulphatide accumulation
Authors: Gieselmann V , Franken S , Klein D , Mansson JE , Sandhoff R , Rauch R Lüllmann , Hartmann D , Saravanan VPM , De Deyn PP , D'Hooge R , Van Der Linden AM , Schaeren‐Wiemers N 
Published: August 2010

Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3′‐O‐sulphogalactosylceramide (sulphatide). This membrane lipid can be found in various cell types, but in particularly high concentrations in the myelin of the nervous system. Patients suffer from progressive, finally lethal, demyelination due to accumulation of sulphatide. In the nervous system, lipid storage not only affects oligodendrocytes but also neurons and, in addition, leads to astrogliosis and activation of microglia. At the cellular level, lysosomal sulphatide storage also affects the lipid composition of myelin itself and has consequences for the amount and localization of particular myelin membrane‐associated proteins. Here we review data, largely based on an arylsulphatase A knock‐out mouse model of metachromatic leukodystrophy. Conclusion: The knock‐out mouse model of metachromatic leukodystrophy has provided insights into the histopathological and cellular consequences of sulphatide storage.
Risk factors in the development of early technetium‐99m dimercaptosuccinic acid renal scintigraphy lesions during first urinary tract infection in children
Authors: Fernández‐Menéndez JM , Málaga S , Matesanz JL , Solís G , Alonso S , Pérez‐Méndez C 
Published: August 2010

Aim: To establish the variables that correlate with uptake defects in dimercaptosuccinic acid (DMSA) scintigraphy performed in the acute phase of a first episode of urinary tract infection (UTI). Methods: A prospective observational study was conducted in a cohort of 158 consecutive children with a first episode of symptomatic UTI. The therapeutic delay time (TDT) was recorded. DMSA scintigraphy was performed in all children and voiding cystourethrography in 150 of them. Results: 85% of the patients were younger than 2 y. Mean TDT was 33.5 h. The aetiological agent was Escherichia coli in 140 children. DMSA scintigraphy was normal in 81. Vesicoureteric reflux was detected in 33. After a multivariate logistic regression analysis the following variables were retained in the final model: TDT ≥48 h, growth of bacteria other than E. coli, percentage of polymorphonuclear cells ≥60% and C‐reactive protein ≥30 mg−1. Conclusion: TDT ≥48 h, bacteria other than E. coli, percentage of polymorphonuclear cells ≥60% and CRP ≥30 mg−1 influence the findings detected in the DMSA scintigraphy performed in the acute phase of a first episode of UTI.
Early determinants of first hospital admissions for asthma and acute bronchitis among Swedish children
Authors: Bråbäck L , Björ O , Nordahl G 
Published: August 2010

Aim: To assess the changing impact of prenatal and perinatal factors with increasing age on first admissions for asthma and acute bronchitis. Methods: The Swedish Medical Birth Registry was linked to the National Hospital Discharge Registry for 214276 Swedish children born in 1987 and 1988. The linkage comprised first admissions for acute bronchitis or asthma from 1987 to 1995. First admissions for gastroenteritis were included to distinguish between factors specific to asthma or bronchitis and non‐specific factors related to an increased risk of hospital admission. Results: Admissions for asthma and acute bronchitis before 2y of age had a close dose‐response relationship with maternal smoking, low gestational age, low maternal age and older siblings. Very premature children exposed to more than 9 cigarettes a day in utero ran a 10 times higher risk of hospitalization than postmature children without exposure to maternal smoking. However, the proportion of admissions attributed to maternal smoking was only 4.7% after adjustments for significant covariates. The number of significant determinants declined in children with their first admission for asthma after 2 y of age but male gender and low educational level were independent determinants in all age groups. Older siblings were related to an increased risk of first asthma admission before 2 y of age but a slightly reduced risk of first admission after 2 y of age. Conclusion: This study illustrates the varied epidemiology of asthma in different age groups. Maternal smoking was an important determinant for admission before 2 y of age but mainly in combination with other factors. The decline in hospital admissions in early childhood would therefore be small, even after the elimination of maternal smoking, if other significant perinatal and socioeconomic factors were unchanged.
Unpowered scooter injuries in children
Authors: Kubiak R , Slongo T 
Published: August 2010

Aim: An increasing number of scooter‐related injuries is being seen in emergency department. This study was initiated to establish the demographic profile and injury characteristics of the children involved, to examine the circumstances and to suggest preventive measures. Methods: During this descriptive cohort study, data from year 2000 were collected from all children below 16 y of age who were seen in the emergency department of a Swiss hospital following an accident with an unpowered scooter. Between January and September, information regarding age, gender, injury sustained and medical management was reviewed. From October to December, data were collected prospectively. A questionnaire was sent (January‐September) or handed out personally (October‐December) to the patients, to gather information on the circumstances surrounding the injury and the use of safety equipment. Results: Thirty‐six children (15M, 21F) were included in the study. The mean age was 8.8 y (range 3.0–15.8 y). The most common injuries involved the face (including six children with dental injuries) (44%) and the head (19%). Thirteen children (36%) (6M, 7F) sustained a fracture. The majority of injuries resulted from falls forward or to the side, caused by a loss of control or collision with an obstacle. Only one patient used any safety equipment. Conclusion: Accidents with unpowered scooters can produce severe injuries in children. Although the majority of patients sustained minor injuries (e.g. lacerations, contusions), more serious injuries can occur. The head and face were the most vulnerable. The use of protective gear, especially helmets, may reduce the number and severity of injuries. Parents, doctors and healthcare workers should be aware of the causes and prevention of injuries caused by this rapidly growing recreational activity in childhood.
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature
Authors: Simsek E , Simsek T , TekgüT S , Hosal S , Seyrantepe V , Aktan G 
Published: August 2010

Aim: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. Methods: Nine patients fulfilled the ascertainment criteria of WFS (insulin‐dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. Results: The earliest manifestation of WFS was insulin‐dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydro‐ureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low‐capacity, low‐compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNALeu (UUR) A to G (nucleotide 3243) mutation. Conclusion: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low‐capacity, high‐pressure bladder with sphincteric dyssynergia is also common.
Nasal continuous positive airway pressure versus nasal intermittent positive pressure ventilation for preterm neonates: a systematic review and meta‐analysis
Authors: De Paoli AG , Davis PG , Lemyre B 
Published: August 2010

Aim: To determine whether nasal intermittent positive pressure ventilation (NIPPV) is more effective in preterm infants than nasal continuous positive airway pressure (NCPAP) in reducing the rate of extubation failure following mechanical ventilation, and reducing the frequency of apnoea of prematurity and subsequent need for endotracheal intubation. Methods: Randomized trials of NIPPV versus NCPAP were sought and their data extracted and analysed independently by the authors using the methodology of the Cochrane Collaboration. The analysis used relative risk (RR), risk difference (RD) and number needed to treat (NNT) with 95% confidence intervals. Results: The three studies identified, comparing NIPPV with NCPAP in the postextubation period, all used synchronized NIPPV (SNIPPV), which was more effective than NCPAP in preventing failure of extubation [RR 0.21 (0.10, 0.45), RD ‐0.32 (‐0.45, ‐0.20), NNT 3 (2, 5)]. Two studies compared NIPPV versus NCPAP for the treatment of apnoea of prematurity. Although meta‐analysis was not possible one trial showed a reduction in apnoea frequency with NIPPV and the other a trend favouring NIPPV. Conclusion: SNIPPV is an effective method of augmenting the beneficial effects of NCPAP in preterm infants in the postextubation period. Further research is required to delineate the role of NIPPV in the management of apnoea of prematurity.