bluuebunny/crossref_metadata_2025 huggingface dataset:
Neonatal salmonella meningitis: two case reports
Authors: Hansen L N , Eschen C , Bruun B
Published: January 2008

Two cases of neonatal salmonella meningitis are reported. Both infants were seriously ill: one died 6 days after admittance to the hospital; the other required artificial ventilation for 4 days and recovered without sequelae. In both cases close relatives had shown signs of gastrointestinal infection just prior to the reported cases. The symptoms, the outcome and antibiotic treatment are discussed. In view of the increasing incidence of salmonella infections in Denmark and the serious prognosis of neonatal meningitis, it is important to consider the diagnosis in all cases of bacterial meningitis in infancy.
Haemorrhagic shock and encephalopathy associated with rotavirus infection
Authors: Makino M , Tanabe Y , Shinozaki K , Matsuno S , Furuya T
Published: January 2008

We report on a 21‐month‐old girl with a haemorrhagic shock and encephalopathy who survived. Rotavirus genoinic ribonucleic acid was detected by reverse transcription polymerase chain reaction in stool, blood and cerebrospinal fluid. Serum antibody titres of the rotavirus were also high. Plasnia‐pheresis had a stabilizing effect on the course of the disease. This case indicates that rotavirus infection may play an important role in the devastating cascade that occurs in some patients with this syndrome. The findings suggest that extensive investigation for rotavirus infection, particularly infection of the central nervous system, should be carried out in patients with haemorrhagic shock and encephalopathy.
Randomized controlled trials and systematic reviews: a foundation for evidence‐based perinatal medicine
Authors: Ohlsson A
Published: January 2008

The objective of this paper is to introduce the reader to clinical research methodologies and to illustrate how randomized controlled trials (RCTs) and systematic reviews provide a solid foundation for evidence‐based perinatal practice. Relevant references were critically appraised for validity and usefulness. Random allocation is of utmost importance to avoid bias. There are thousands of reported perinatal RCTs. Systematic review techniques allow clinicians to assess the effectiveness of perinatal interventions. The application of the results of systematic reviews to perinatal practice is increasing. RCTs and systematic reviews provide the most valid results on which to build an evidence‐based perinatal practice. A major challenge for perinatal researchers is the development of innovative means of communication. This assures that the evidence for an effective intervention is timely implemented. Consumers of care should be encouraged to actively participate in the design, execution and dissemination of perinatal research.
Feeding and nutritional characteristics in children with moderate or severe cerebral palsy
Authors: Dahl M , Thommessen M , Rasmussen M , Selberg T
Published: January 2008

This study was undertaken to characterize the current feeding situation and nutritional status of moderately or severely disabled children with cerebral palsy (CP). Thirty‐five children with CP (17 with diplegia, 11 with dystonia, 6 with tetraplegia and one child with ataxia) were investigated at a median age of 8 years. Information was obtained from parental interviews, medical records and clinical and anthropometric examinations. Twenty‐one of the 35 children (60%), most of whom were severely disabled, were reported by the parents to have current feeding problems. Anthropometric indicators of undernutrition were found in 15 children (43%) and of overnutrition in 3 children (9%), compared with reference values of healthy children. Severely disabled children in the youngest age group were most at risk for poor nutritional status. Early identification of children at nutritional risk requires regular assessments of feeding skills and nutritional status.
Perceived social norms as crucial determinants of mother's injury‐preventive behaviour
Authors: Sellström E , Bremberg S
Published: January 2008

In order to design injury‐preventive programmes aimed at parents, an understanding of injury‐preventive behaviour is essential. Questionnaires were obtained from 870 mothers of 3, 4 and 9‐year‐olds. The perceived social norm and other determinants for injury‐preventive behaviour were analysed using three multivariate logistic regression models. The final logistic models classified 73.2–82.7% of respondents correctly. Perceived norms of relatives and friends were found to be the most important determinants of mothers’injury‐preventive behaviour. Injury‐preventive behaviour could neither be explained by mother's perception of injury risks, nor by the perceived norms of professionals within child health care and schools. This study indicates that in order to design injury‐prevention programmes, an understanding of social norms is crucial.
Respiratory syncytial virus infection enhances the response to laryngeal chemostimulation and inhibits arousal from sleep in young lambs*
Authors: Lindgren C , Lin J , Graham BS , Gray ME , Parker RA , Sundell HW
Published: January 2008

To evaluate the effect of respiratory syncytial virus (RSV) infection on the response to laryngeal chemostimulation (LCS) with water, five lambs were inoculated with human RSV and three lambs were given control media at an age of 3‐5 days. During RSV infection, LCS resulted in increased inhibition of minute ventilation and delayed recovery of regular breathing. Sleep further increased the response, and arousal was less likely to occur in active sleep. Two of the five infected lambs needed resuscitation after LCS when arousal was absent. Histological studies showed bronchiolitis and pneumonitis. Laryngeal tastebud morphology was unchanged at 8 days after inoculation. However, infected lambs had disrupted tastebuds 4‐6 weeks after infection. Failure to arouse and to terminate reflex apnea may play a role in the pathogenesis of the sudden infant death syndrome associated with respiratory tract infection.
Concomitant bacteraemia as a risk factor for diarrhoeal disease mortality in Karachi: a case‐control study of hospitalized children
Authors: Bhutta ZA , Punjwani N , Lindblad BS
Published: January 2008

The objective of this study was to evaluate risk factors for death due to diarrhoea among hospitalized children at the Aga Khan University Hospital (AKUH), Karachi. We conducted a retrospective case‐control study of all diarrhoea deaths at AKUH over the period 1988–93. For each death, the next two consecutive admissions matched for gender and type of diarrhoea were identified as controls. Data were analysed by univariate methods and logistic regression analysis. A total of 42 deaths and 84 matched controls were identified. Blood cultures at admission were obtained in all deaths and 94% of controls. The rates of isolation of organisms from blood cultures were significantly higher among deaths [38 versus 9%, odds ratio (OR) 6.5, 95% confidence interval (CI) 2.2–19.9], the majority of which were Gram‐negative Enterobacteriaceae (94 versus 57%, Fisher's exact test p < 0.02). Conditional logistic regression revealed that several clinical and laboratory features of systemic infection were associated with a significantly increased risk of mortality, such as anorexia (OR 3.9,95% CI 1.4 10.9), drowsiness (OR 4.4,95% CI 1.3–15.3), respiratory distress (OR 7.0,95% CI 1.4 36.6), anaemia (OR 5.8, 95% CI 2.0–16.6) and a positive blood culture (OR 8.7, 95% CI 2.5–30.7). Our data suggest that bacteraemia with Enterobacteriaceae is common among hospitalized malnourished children with diarrhoea and systemic infection may be an important risk factor for mortality.
Serum and salivary antigliadin antibodies and serum IgA anti‐endomysium antibodies as a screening test for coeliac disease
Authors: Rujner J , Socha J , Barra E , Gregorek H , Madaliński K , Woźniewicz B , Giera B
Published: January 2008

Serum and salivary IgA and IgG antigliadin antibodies were determined by an enzyme‐linked immunosorbent assay in 18 children with villous atrophy and 30 children on a gluten‐free diet for coeliac disease in whom normal intestinal mucosa was found. Serum IgA anti‐endomysium antibodies were also determined by an immunofluorescence method in these children. Serum IgG antigliadin and IgA anti‐endomysium antibodies had the highest sensitivity (100 and 94.4%, respectively), followed by serum IgA antibodies to gliadin (72.2%), salivary IgA antigliadin (61.2%) and IgG antigliadin (50%) antibodies. The highest specificity was found for serum IgA anti‐endomysium (100%) and IgA antigliadin (96.6%) antibodies and salivary IgA and IgG antigliadin antibodies (93.3%), while serum IgG antigliadin antibodies were found to be least specific (63.3%)
Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Authors: Higuchi R , Noda E , Koyama Y , Shirai T , Horino A , Juri T , Koike M
Published: January 2008

An amino acid formula produced in Japan is not supplemented with biotin since biotin is not permitted as a food additive. Biotin deficiency developed in an 11 ‐month‐old Japanese infant who had been diagnosed as a neonate with cow milk and soy bean allergy and fed with an amino acid formula and hypoallergenic rice processed by protease. Serum levels of zinc, essential fatty acids and biotinidase were within the normal range while that of biotin was below the normal range. Urinary 3‐hydroxy‐isovalerate and slightly elevated levels of plasma branched‐chain amino acids disappeared 1 week after oral supplementation with 1 mg day‐1of biotin as did the symptoms of orificial skin lesions, lethargy, hypotonia and alopecia later. In summary, to prevent biotin deficiency, biotin should be added to the Japanese amino acid formula.
Age‐dependent variation in the serum concentration of mannan‐binding protein
Authors: Aittoniemi J , Miettinen A , Laippala P , Isolauri E , Viikari J , Ruuska T , Soppi E
Published: January 2008

Mannan‐binding protein (MBP) is an acute phase reactant, and its deficiency is associated with the common opsonic defect and suspectibility to infections and atopic constitution. The aim of this study was to investigate the changes occurring in the serum level of MBP in infancy and during later childhood. We studied the serum concentration of MBP in 611 Finnish children of different ages and 110 adults by using an enzyme immunoassay. In an analysis of successive serum samples from infants at the day of birth and at the ages of 1 and 5 months, and at 1 and 2 years, the serum concentration of MBP increased significantly after birth, and was at its highest (the mean and median were 8.13 and 8.49 mg1−1, respectively) at the age of 1 month. After that, it declined to the initial level until the age of 5 months. The MBP concentration continued to decrease during childhood, and after the age of 12 years the MBP values reached the adult level. In Finnish adults the mean and median concentrations of MBP were 4.48 and 4.02 mg 1−1, respectively, which seem to be higher than those reported previously in other populations. The high concentration of MBP in infants may best be explained by exposure to novel environmental antigens in early childhood, which suggests a protective role for MBP during the period of immaturity of the immunosystem. In older children the high level of MBP can probably be explained by childhood infections and the ensuing need of MBP.
Clinical and biochemical screening for Smith–Lemli–Opitz syndrome
Authors: Guzzetta V , De Fabiani E , Galli G , Colombo C , Corso G , Lecora M , Parenti G , Strisciuglio P , Andria G ,   The Italian SLOS Collaborative Group
Published: January 2008

Smith‐Lemli‐Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder possibly due to a defect of Δ7‐sterol reductase, leading to low plasma cholesterol levels and to the accumulation of 7‐dehydrocholesterol (7‐DHC) and other cholesterol precursors. This study aimed to identify clinical features that could potentially be specific indicators for the clinical diagnosis of SLOS, and to test the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening procedure for the syndrome. Twenty patients with clinical suspicion of SLOS, referred to 11 Italian paediatricand clinical genetic centres, were collected during 1994. In 10 patients the diagnosis was confirmed biochemically by gas chromatography/mass spectrometry (GC/MS) analysis of serum sterols, whereas in the other 10 patients the serum sterol profiles were normal. A comparison between confirmed SLOS patients and biochemically negative subjects did not show clinical signs specific for the syndrome. UVS measurement of 7‐DHC correlated well with GC/MS profiles, showing 100% sensitivity and specificity. Four out of five patients had serum bile acid concentrations below the normal range of controls.
Psychological reactions at the onset of insulin‐dependent diabetes mellitus in children and later adjustment and metabolic control
Authors: Thernlund G , Dahlquist G , Hägglöf B , Ivarsson SA , Lernmark B , Ludvigsson J , Sjöblad S
Published: January 2008

The initial psychological reactions at the onset of insulin‐dependent diabetes mellitus (IDDM) in a population‐based sample of 76 children were studied with staff observations and a self‐report questionnaire for children 12 years of age and more. Younger children reacted with more anger and less distress than the older children. High initial self‐reported distress was associated with poorer subjective psychological IDDM adjustment at a follow‐up 10 months later for the older children. The children's initial reactions as well as later adjustment were intimately associated with maternal initial reactions in the total group. The metabolic control, estimated as the mean level of the major fraction of glycosylated haemoglobin (Hb AIc) during the first 2 years, was poorer in the adolescent group. Initial anxiety over injections and protest but low general distress in mothers and children were associated with better metabolic control.
Recurrent abdominal pain and Helicobacter pylori in a community‐based sample of London children
Authors: O'Donohoe JM , Sullivan PB , Scott R , Rogers T , Brueton MJ , Barltrop D
Published: January 2008

Helicobacter pylori is accepted as an important factor in the pathogenesis of peptic ulcer disease. Infection is probably most commonly acquired in early life but there is still limited information on the prevalence or symptomatology of H. pylori infection in childhood. The aim of the present study was to establish the prevalence of H. pylori infection in a large sample of urban school children and to determine its relationship, if any, to a history of recurrent abdominal pain. Using a commercial ELISA significant levels of anti‐H, pylori IgG antibody were detected in 107/640 (16.7%) of school children (M, 383; F, 257; mean age 9.15 years, range 4‐13). No relationship was demonstrated between H. pylori seropositivity and a personal or family history of recurrent abdominal pain or the nature of the pain.
Transcutaneous bilirubinometry in Chinese, Malay and Indian infants
Authors: Tan KL , Chia HP , Koh BC
Published: January 2008

The objective of this study was to investigate the correlation of transcutaneous bilirubinometry (TcB) and plasma bilirubin concentrations in full‐term Chinese, Malay and Indian infants. TcB was performed with the Minolta Airshields bilirubinometer on Chinese, Malay and Indian full‐term infants. The readings were taken on the chest (sternum) and forehead (glabella) when capillary blood was sampled for bilirubin determination. Five hundred and forty TcB indices in 253 Chinese infants, 282 in 169 Malay infants, and 182 in 120 Indian infants were obtained over the sternum and forehead. A good correlation between the TcB indices and the bilirubin concentrations was observed in Chinese, Malay and Indian infants: r= 0.78 (chest), r= 0.73 (forehead); r= 0.86 (chest), r= 0.84 (forehead); and r= 0.84 (chest), r= 0.82 (forehead). The correlation was just as good when the combined values were evaluated together: r= 0.80 (chest) r= 0.75 (forehead). In Chinese infants, correlation at values below 250 μmol −1 was significantly better than that at values over 250μmoll−1r= 0.80 versus r=−0.20, < 0.00001 (chest), and r= 0.74 versus r= 0.07, < 0.00001 (forehead). However, a safer cut‐off point clinically would be 200 μmoll−1, since only relatively few higher bilirubin values were encountered when TcB indices were below 200 μmoll−1 The same pattern was noticed with the other two groups, and the combined group. Thus, TcB provides a non‐invasive, cost‐effective screening method for significant neonatal jaundice, sparing infants and parents physical and emotional stress, and medical and nursing personnel extra work and inconvenience.
Colestipol tablets in adolescents with familial hypercholesterolaemia
Authors: Tonstad S , Ose L
Published: January 2008

The objective of this study was to examine palatability and side effects of the new tablet formulation of colestipol. A clinical series of 23 boys and 4 girls aged 10‐16 years with heterozygous familial hypercholesterolaemia were given 2‐12 g colestipol daily for 6 months in an open study. There were no serious side effects. The median reduction in low density lipoprotein cholesterol level was 20%. All preferred the tablets to resin granules they had tried previously. We conclude that low‐dose colestipol tablets appear to be safe and effective, and are preferred by adolescents.
Familial thrombocytosis in infancy presenting with a leukaemoid reaction
Authors: Dijken PJ van , Woldendorp KH , Wouwe JP van
Published: January 2008

Familial thrombocytosis (FT) is a hereditary disorder probably involving the regulation of mega‐karyopoiesis. This report is the first documented case of FT in infancy. The clinical course was complicated by a leukaemoid reaction which lasted for several months, in combination with failure to thrive and hepatosplenomegaly. At the age of 5 years the patient, with the exception of thrombocytosis, is healthy and without medication.
Latent and potential coeliac disease
Authors: Troncone R , Greco L , Mayer M , Paparo F , Caputo N , Micillo M , Mugione P , Auricchio S
Published: January 2008

Under the umbrella of coeliac disease (CD), or gluten‐sensitive enteropathy, the concepts of silent, latent and potential CD have recently been introduced. While silent CD is marked by severe damage to the jejunal mucosa in the absence of clinical symptoms, both latent and potential CD are characterized by a jejunal mucosa that would be reported as normal by most clinical pathologists in an individual on a gluten‐containing diet. As opposed to potential coeliac patients, latent subjects sometime in their life have had a flat jejunal biopsy which recovered on a gluten‐free diet. Latent coeliac patients are often symptomatic; neither high titres of gliadin antibodies nor mucosal changes (including raised intraepithelial lymphocyte counts) are obligate features of latent CD, although the presence of elevated endomysial antibodies is probably the best predictor of progression towards villous atrophy. The term potential CD has been proposed for those subjects who do not have, and have never had, a jejunal biopsy consistent with overt CD, and yet have immunological abnormalities similar to those found in coeliac patients. Good markers of potential CD include the presence of serum endomysial antibodies, a high count of intraepithelial lymphocytes and subtle pathological alterations such as increased density of intraepithelial lymphocytes expressing γδ T cell receptor, signs of activated mucosal cell‐mediated immunity, coeliac‐like intestinal antibody pattern, and positive rectal gluten challenge.
Results of coeliac disease screening in Estonia in 1990–1994
Authors: Uibo O , Metsküla K , Kukk T , Rägo T , Uibo R
Published: January 2008

In the period 1990–94, 2895 individuals (629 children with suspicion of coeliac disease selected throughout Estonia; 700 consecutively hospitalized children; 105 children with atopic dermatitis; 1461 inhabitants of a small Estonian town) were serologically screened for coeliac disease. The enzyme‐linked immunosorbent assay was used for antigliadin antibody determinations and R 1‐type antireticulin antibodies were detected using an indirect immunofluorescence method. Coeliac disease was diagnosed according to recent criteria recommended by the European Society for Paediatric Gastroenterology and Nutrition. Antigliadin antibody testing was positive in 44 (3.1%) of 1434 children studied, and in 33 of whom coeliac disease was confirmed. In all the coeliac patients R 1‐type antireticulin antibody test was positive. However, 52 (3.5%) of 1461 adults studied who did not have coeliac disease had positive antigliadin antibody test but negative antireticulin antibody test. Thus, in Estonia, the antigliadin antibody test can be used in screening for coeliac disease in children but not in adults.
Prevalence of coeliac disease in diabetic children and their first‐degree relatives in West Algeria: screening with serological markers
Authors: Boudraa G , Hachelaf W , Benbouabdellah M , Belkadi M , Benmansour FZ , Touhami M
Published: January 2008

Atypical and relatively silent forms of coeliac disease (CD) have been described in insulin‐dependent diabetes mellitus (IDDM). Our aim was to evaluate the prevalence of CD‐IDDM with serological markers and to investigate the presence of CD in the IDDM first‐degree relatives. During 1993 94 we explored 116 IDDM patients reported as new cases and 381 first‐degree relatives of IDDM patients. Determination of IgA and IgG antigliadin antibodies (AGA) and IgA antiendomysium antibodies (AEA) was made. Jejunal biopsy was performed in symptomatic patients or in those with positive serological markers, (i) Nineteen IDDM‐CD were identified and 5 were suspected. Thus, the prevalence of CD in IDDM patients was between 16.4 and 20%. AGA and/or AEA were abnormal in 13 and normal in 5. Sensitivity was 80% for the three tests when used simultaneously and specificity was 100%. (ii) In the family study, 26 sera of asymptomatic first‐degree relatives of IDDM patients were positive for at least one of the serological markers; 13 of them had villous atrophy. Systematic serological screening in IDDM allowed us to detect CD and evaluate the true incidence.
Preliminary results from follow‐up of a large‐scale population survey of antibodies to gliadin, reticulin and endomysium
Authors: Johnston SD , Watson RGP , McMillan SA , McMaster D , Evans A
Published: January 2008

Coeliac disease is often under‐diagnosed, particularly in cases which are atypical or asymptomatic. Objective: The aim of this study was to comprehensively assess the prevalence and clinical profile of adult coeliac disease in our community. Methods: One‐hundred‐and‐thirteen subjects from the most recent MONICA (Multinational MONItoring of trends and determinants in CArdiovascular disease) 1991/2 survey with positive serology were followed up 3 years after initial screening and assessed by means of (i) a clinical questionnaire, (ii) screening blood tests, and (iii) jejunal biopsy. Results: Forty‐six subjects (21 male, mean age 51 years) have been followed up to date. Prior to follow‐up, two of these subjects were diagnosed as having coeliac disease. Ten (3 male, mean age 51 years) of 44 subjects had enteropathy. Three of these 10 subjects were relatively asymptomatic, 3 had folate deficiency and 3 had iron deficiency. Thus 12 of the 1823 initially screened had enteropathy consistent with coeliac disease. Conclusions: Coeliac disease is more prevalent than previous estimations and was found to be at least 1 in 152.
Non‐malignant complications of coeliac disease
Authors: Holmes GKT
Published: January 2008

Patients with coeliac disease are at increased risk of developing complications which increase morbidity and mortality. Emphasis on malignant complications has often overshadowed the non‐malignant risks, which have received relatively little attention, although some of these can be very troublesome and even life‐threatening. This article points out that a large population of unidentified or neglected coeliac patients is at potential risk. The challenge is to identify this group by case‐finding or screening programmes in selected populations, so that they can be offered a gluten‐free diet and other treatments which will not only improve general health but may also prevent or reduce the development of health problems. The non‐malignant risks are outlined and bone and neuropsychiatric disturbances considered in more detail because of recent developments in these areas.
Cardiac findings in generalized lipodystrophy*
Authors: Bjørnstad PG , Foerster A , Ihlen H
Published: January 2008

The cardiac findings in eight patients, two of whom were female, with total lipodystrophy (Berardinelli‐Seip's disease) are reported. One of them had the acquired form of the disease. Four patients died at a mean age of 32 years. As far as we know, at least three of them most likely died for cardiac reasons, one shortly after recovering from an attempted suicide. All eight patients had hypertrophic hearts, mostly with deranged diastolic, but also systolic, function. One had pulmonary hypertension. We conclude that generalized lipodystrophy is a serious disease with cardiac affection leading to cardiac dysfunction and early death. There is no specific cardiac treatment, and the treatment should be according to the general guidelines for patients with hypertrophic, dysfunctioning hearts.
Radiological features in generalized lipodystrophy
Authors: Westvik J
Published: January 2008

Seven patients with congenital generalized lipodystrophy and one patient with acquired generalized lipodystrophy have been followed up for 38 years. Various radiological techniques have been used, and the major findings are summarized. All patients had an advanced skeletal age. A sclerotic skeleton was a major feature in childhood in the congenital form, later turning into osteolytic lesions or more distinct sclerotic patches in adolescence or early adulthood. In the acquired form the skeleton was slightly osteoporotic without cystic changes. Ultrasonography and computerized tomography examinations revealed hepatosplenomegaly with fatty infiltration in both types. Lack of subcutaneous and intrabdominal fat was easily confirmed with computerized tomography. Five patients with the congenital form underwent pneumoencephalography, which revealed dilated brain ventricles and basal cisterns. Cardiomegaly and large kidneys were also a major feature.
Genetics of the Berardinelli‐Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping
Authors: Jr T Gedde‐Dahl , Trygstad O , Maldergem L Van , Magré J , Van Der Hagen CB , Olaisen B , Stenersen M , Mevåg B ,   The Berardinelli‐Seip Study Group
Published: January 2008

Five of the six families with the Berardinelli Seip syndrome in Norway cluster in six adjacent rural municipalities of south‐western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of new cases may be explained by a decrease in the intraregion marriage rate and inbreeding. Genealogical investigations show that the mutation must have occurred at least 400 years ago. The sixth family was clinically different and geographically sporadic from a Finnish‐descent rural East Norwegian population. A genetic linkage study of all six families revealed fresh crossovers versus the disease allele in nine DNA marker systems and the absence of recombination in three (maximum lod score + 1.3). None of the last showed allelic association. These families are included in an international effort to map the CLBS locus. The patients have been included in the homozygosity testing of totally 28 patients in an international collaborative study. The three patients, assumed identical in descent from both parents, were jointly homozygous in none of the 250 dinucleotide markers tested. A heterochromatic 9qh + segregated from one parent in two families.
The development of nerve connections in the peripheral nervous system
Authors: Cullheim S
Published: January 2008

The structural basis for the functions of the brain is the wiring of nerve cells. This wiring is achieved by 100 billion neurons via some 100,000 billion synaptic connections. Formation of this network is a formidable task which requires intricate, but also reliable mechanisms at work. It is generally recognized that the precise connections between nerve cells are accomplished by two different sorts of mechanism. First, various molecular guidance cues lead outgrowing axons from specific areas to particular target regions which are rather broadly defined. The second stage includes an exact, point‐to‐point matching between each axon and the specific target neurons. This is achieved by an intricate interaction between the involved nerve cells. In the following, the attention will primarily regard the second type of events, but some aspects on the initial outgrowth of axons and axon guidance mechanisms will also be given. A large part of the description will focus on the neuromuscular junction, since it has been extensively used as a model for the study of synapse development.
Effectiveness of individualized neurodevelopmental care in the newborn intensive care unit (NICU)
Authors: Als H , Duffy FH , McAnulty GB
Published: January 2008

The individual infant's neurodevelopmental process provides an integrative framework for the delivery of medical care needed to assure the infant's survival and quality of outcome. The infant's neurobehavioral functioning and expression provides an opportunity for caregivers to estimate the individual infant's current strengths, vulnerabilities and threshold to disorganization, as well as to identify the infant's strategies in collaborating in his or her best progression. This perspective supports caregivers in seeing themselves in a relationship with the infant, and in considering opportunities to enhance the infant's strengths and reduce apparent stressors in collaboration with the infant and the family. The results of several randomized studies supporting the effectiveness of such a neuro developmental approach to NICU care will be presented, and suggest implications for staff education and nursery‐wide implementation.
Development and reorganization of descending motor pathways in children with hemiplegic cerebral palsy
Authors: Carr LJ
Published: January 2008

Reorganization of descending motor pathways was explored in 33 subjects with hemiplegic cerebral palsy. Subjects were assessed neurologically and surface electromyographic recordings were taken from homologous muscles of both hands. Functional corticospinal projections were assessed using focal magnetic stimulation of the motor cortex. In control subjects this evokes EMG responses in the contralateral hand at short latency. Similar results were seen in 12 of the hemiplegic subjects following stimulation of the undamaged motor cortex. In the remaining 22 subjects novel corticospinal pathways were demonstrated arising from the undamaged cortex, where stimulation evoked short latency EMG responses in both hands. Cross‐correlation analysis performed from EMGs recorded between the two hands revealed short duration central peaks in 11 of these subjects, all of whom had strong mirror movements of the hands. These findings suggested that two patterns of central reorganization may follow early unilateral cortical insult. Examination further indicated that hand function in hemiplegic subjects could be related to the neurophysiological results.
Neural and musculoskeletal contributions to the development of stance balance control in typical children and in children with cerebral palsy
Authors: Woollacott MH , Burtner P
Published: January 2008

Studies on the development of automatic postural responses in both typically developing children and children with cerebral palsy were performed. With the appearance of “pull‐to‐stand” behavior, typically developing children first began to show muscle responses to platform movements in mainly the ankle muscles. With increased development, additional agonist muscles were added to the response pattern and a consistent distal to proximal sequence began to emerge. Well‐organized responses were seen with the onset of independent stance and walking, along with the reduction of antagonist muscle co‐activation. The older children with cerebral palsy who were pre‐walkers had immature muscle activation patterns like those seen in the typically developing children at the pull‐to‐ stand stage of development. These included disorganized muscle responses and increased frequency of coactivation of both proximal–distal and agonist–antagonist muscles. In order to determine if musculoskeletal constraints contributed to these response patterns, normal children were asked to stand in a crouched posture similar to that of children with CP. This caused postural muscle response patterns to more closely approximate those of children with spastic diplegia.
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
Authors: Bonaventure J , Rousseau F , Legeai‐Mallet L , Merrer M Le , Munnich A , Maroteaux P
Published: January 2008

The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR‐3) has been followed by the detection of common FGFR‐3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity: 100% of patients examined exhibited mutations in the transmembrane domain of FGFR‐3. Although most cases of hypochondroplasia were accounted for by a recurrent missense substitution (Asn540Lys) in the first tyrosine kinase domain of FGFR‐3, a significant proportion (40%) of the patients in the present study did not possess this Asn540Lys mutation. Furthermore, in three families with hypochondroplasia, the genetic defect was not linked to the FGFR‐3 locus, thus supporting the clinical heterogeneity of this disease. In TD, a recurrent mutation located in the second tyrosine kinase domain of FGFR‐3 has been detected in all TDII patients. By contrast, seven distinct mutations in three different protein domains were identified in 25 out of 26 TDI patients in this study. This suggests that TD, like achondroplasia, is a genetically homogeneous skeletal disorder.
Transformed α2‐macroglobulin as a low‐affinity growth hormone‐binding protein
Authors: Kratzsch J , Selisko T , Birkenmeier G
Published: January 2008

Human growth hormone (GH) forms complexes with the purified proteinase inhibitor, α2‐macroglobulin (α2‐M). This inhibitor occurs in two different forms in serum, known as native and transformed α2‐M. It has been clearly demonstrated, using chromatography and electrophoresis combined with autoradiography, that human GH binds specifically to the transformed inhibitor and not to the native protein. The binding was characterized as being mainly non‐covalent and involved specific binding sites present only in the transformed inhibitor molecule. Binding analysis, using an immunoprecipitation technique, revealed that GH possesses two different types of binding sites, with dissociation constants of 0.49 ± 0.12 μmol/1 and 61 ± 8 μmol/1 for the high‐ and low‐affinity binding site, respectively. Distribution analysis of 125I‐labelled GH in whole plasma suggests that the hormone is bound to two different proteins: first, to the high‐affinity GH‐binding protein (GHBP) and, second, to the low‐affinity GHBP, identified as transformed α2‐macroglobulin.
Follow‐on formula in the prevention of iron deficiency: a multicentre study
Authors: Gill DG , Vincent S , Segal DS
Published: January 2008

Abstract Six‐month‐old infants were recruited at 21 centres in the UK and Ireland and randomly assigned to receive matching iron‐fortified (12.3 mg/l iron) or non‐fortified (1.4 mg/l iron) formula for 9 months. Infants already receiving cow's milk continued this feed. Haematological indices and iron status were evaluated at age 6 months, 9–10 months and 15 months. Four hundred and six infants entered and 302 completed the study. There were no differences between the groups for increases in weight, head circumference or length. Significant differences between the groups were observed at 15 months for haemoglobin, serum ferritin, serum iron and total iron binding capacity. Haemoglobin levels were < 110 g/l in 33% of infants fed cow's milk compared with 13% and 11% in those receiving non‐iron‐fortified and iron‐fortified formula respectively. The corresponding figures for serum ferritin < 10 µg/l were 43%, 22% and 6%. Follow‐on formula provides an acceptable vehicle for preventing iron deficiency in this vulnerable group.
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV
Authors: Lund AM , Nicholls AC , Schwartz M , Skovby F
Published: January 2008

Abstract Protein‐chemical and molecular studies were conducted on all osteogenesis imperfecta (OI) type III/IV patients referred to our hospital during the last 15 y. Of a total of 16 OI type III/IV patients studied, 15 patients were heterozygous for a mutation in one of the two genes coding for collagen I, COL1A1 or COL1A2. Cultured fibroblasts from these 15 patients produced both normal and abnormal collagen I molecules, pointing to a dominant‐negative effect of the mutation. Nine mutations had not been described previously. Parental mosaicism was demonstrated in three families. In the 16th child the causative mutation was not found. In conclusion, OI type III/IV in most patients of Western European ancestry is caused by dominant mutations in the genes for collagen I, and recurrence of OI is caused in most cases by parental gonadal mosaicism.
Improving outcome of malignant brain tumours in very young children: a population‐based study in Finland during 1975‐93
Authors: Ilveskoski I , Pihko H , Sankila R , Lanning M , Perkkiö M , Äärimaa T , Mäkipernaa A , Saarinen UM
Published: January 2008

Abstract Sixty‐four children with malignant brain tumours diagnosed at less than 3 years of age were reported to the Finnish Cancer Registry from 1975 to 1993. The survival rate has improved significantly: the 5‐year survival rate was 26% for all children, 13% for children diagnosed during 1975‐85 (n= 30) and 40% for those diagnosed during 1986‐93 (n= 4). Of the surviving children in 1986‐93, 43% were categorized in Bloom's group I or II and could lead active lives without major disabilities. The remaining children had severe neurologic late complications, such as hemiplegia, intractable seizures, and mental retardation.
Epidemiology of traumatic brain injury in children and adolescents in south‐western Sweden
Authors: Emanuelson I , Wendt L. V
Published: January 2008

Abstract The objectives of this study were to outline the incidence, gender distribution, external causes, severity and early outcome of traumatic brain injury (TBI). The subjects were children and adolescents in the southwestern Swedish health care region, aged 0–17 y in 1987–1991 and fulfilling the criteria for TBI. Identification was made from the discharge registers of the hospitals in the region admitting patients with TBI, and outcome data were obtained from medical records. The mean incidence rate was 12/100 000 for TBI. The dominant external cause was traffic (60%), followed by falls (22%). At discharge, 49% of those surviving were healthy, 48% suffered from one functional impairment and 52% suffered from two or more impairments. In conclusion, although the incidence rate of TBI is low in Sweden, the condition causes permanent functional impairment in 6/100 000 cases every year.
Psychosocial factors in children with idiopathic musculoskeletal pain: a prospective, longitudinal study
Authors: Aasland A , Flatö B , Vandvik IH
Published: January 2008

Abstract To explore the role of psychosocial factors in the development and persistence of idiopathic musculoskeletal pain (IMP) in children, 23 children with IMP and 52 children with juvenile chronic arthritis (JCA) were compared at first admission to hospital and at 9 y follow‐up. Semistructured interviews were performed at both assessments. At first admission, the prevalence of psychiatric diagnoses was high both in patients with IMP and patients with JCA, but patients with IMP more often had pain models, reported more school stress and more often lived with one biological parent. At follow‐up, overall psychosocial functioning and level of chronic family difficulties were improved in both groups, but patients with IMP had a higher prevalence of psychiatric diagnoses and more chronic family difficulties and life events than patients with JCA. The persistence of IMP at follow‐up was related to pain models, school stress, less parental education and more chronic family difficulties at first admission. Findings support the association between psychosocial factors and childhood IMP.
The enigma of pyloric stenosis. Some thoughts on the aetiology
Authors: Rogers IM
Published: January 2008

A theory is advanced about the cause of pyloric stenosis of infancy (PS). Developmental changes will conspire to produce pathogenetic gastric hyperacidity within the first 4 weeks of life in babies who develop PS. The prime cause will be an increased gastric acidity due to a genetically determined supernormal parietal cell mass. This theory satisfactorily explains many known clinical features.
Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype
Authors: Low LCK , Sham C , Kwan E , Karlberg J , Tang G , Cheung PT , Pang H , Tse W , But B , Yu CM , Lam STS
Published: January 2008

The pretreatment mixed cross‐sectional and longitudinal height measurements of 203 patients with Turner's syndrome (TS) were analysed. Only one observation was included per year per child and a total of 858 observations formed the basis of the growth study. The mean and SD values were fitted separately by a second‐degree polynomial function, giving smoothed growth curves. The spontaneous growth pattern of Chinese girls with TS runs parallel to published Caucasian TS growth curves. The mean final height of Chinese patients with TS was 142 cm compared to 147 cm and 139 cm observed in Northern European and Japanese patients, respectively. Patients with the 46, X, i(Xq) karyotype were found to be significantly shorter, whereas children with the 45, X/46, XY and 46, X, del(Xq) karyotypes were significantly taller among this group of patients. Patients with TS who were disomic for Xp are significantly taller than patients who were monosomic for Xp. Our results suggest that karyotype can have a significant effect on the growth of children with TS.
Clinical data in children with meningococcal meningitis in a Spanish hospital
Authors: Cubells C Luaces , García JJ García , Martinez J Roca , Otin C Latorre
Published: January 2008

Neisseria meningitidis is the main cause of bacterial meningitis in Spain. Of the 213 children included in this study with meningococcal meningitis, 7 died. Mortality was linked to a shorter time from the first symptom to diagnosis (mean time for fatal cases was 9.5 h, mean time for survivors was 19h, p= 0.034), to deteriorated consciousness (DC) (mortality rate (MR) with DC = 6/87, MR without DC = 1/124, p= 0.02) and to shock (MR with shock = 5/7, MR without shock = 2/206, p < 0.0001). Previous treatment reduced the yield from blood culture (36/54 versus 45/137, p < 0.0001). Positivity in both Gram stain (GS) and cerebrospinal fluid (CSF) culture increased with longer duration of symptoms (mean GS+= 25h, GS‐= 16h, p= 0.004; CSF+= 20h, CSF‐= 12h, p= 0.001), and blood culture (BC) gave more positive results when carried out earlier (mean BC+= 14 h, BC = 24 h, p < 0.001). Reduced susceptibility to penicillin was seen in 34% of the strains, and rapidly evolving forms were responsible for most of the deaths; reduced susceptibility was more frequent among strains responsible for death or sequelae (9/15 = 60%) as compared with the more harmless strains (69/ 215 = 32%) (p= 0.04). The progressive reduction of susceptibility to penicillin indicates that it should be replaced by a third‐generation cephalosporine.
Nutritional composition of home‐prepared baby meals in Madrid. Comparison with commercial products in Spain and home‐made meals in England
Authors: van den Boom SAM , Kimber AC , Morgan JB
Published: January 2008

The nutritional value of 50 home‐prepared meat‐based baby meals for infants of 7 and 8 months old in Madrid was evaluated. Chemical analysis showed the meals to have a low energy density (mean 50 kcal 100 g‐1), mainly due to the low fat content of the meals (mean 2.5 g 100 kcal‐1). Protein content was high in proportion to me energy provided (mean 9.1 g 100 kcal‐1). The addition of fat would have considerably improved the relation between the three macronutrients. About 20% of die meals had a higher than desired sodium level (> 200 mg 100 kcal‐1) when assessed against guidelines for commercial baby meals. The English home‐made baby meals had a higher energy density, a lower protein content, the same low fat content, and a wider range between minimum and maximum values observed for each nutrient compared to the Spanish home‐prepared meals. The commercial baby meals had a higher energy density, a better ratio between the macronutrients and a smaller variation in the nutrient content.
Plasma thrombomodulin level in newborn infants with and without perinatal asphyxia
Authors: Nako Y , Tomomasa T , Morikawa A
Published: January 2008

To determine whether vascular endothelial damage occurs in neonates with asphyxia, we examined the plasma thrombomodulin level at birth in infants with and without asphyxia. The plasma thrombomodulin concentration in 11 asphyxiated infants was significantly elevated compared with that in 48 infants without asphyxia (38.1 vs 27.0 μg/l, p < 0.0001). The plasma thrombomodulin‐to‐serum creatinine ratio was also significantly elevated (0.62 vs 0.48 μg/μmol, p= 0.0005). The plasma thrombomodulin concentration and the plasma thrombomodulin‐to‐serum creatinine ratio in infants without asphyxia did not differ between the two types of delivery: normal vaginal delivery and elective caesarean section. Stepwise regression analysis showed the serum D‐dimer concentration, plasma pH and serum creatinine concentration were significant independent variables for plasma thrombomodulin concentration, whereas base deficit, platelet count, fibrinogen concentrations and antithrombin III activity were not. Our data suggest that vascular endothelial damage might occur in asphyxiated infants.
Preauricular tags and pits in the newborn: the role of hearing tests
Authors: Kugelman A , Hadad B , Ben‐David J , Podoshin L , Borochowitz Z , Bader D
Published: January 2008

The aim of this study was to determine the role of audiometry in a group of newborn infants with preauricular tags or pits. During the 2 years of prospective study, 26 infants were born with preauricular tags or pits (5.7 per 1000 livebirths) and were assessed for hearing impairment by performing behavioural audiometry on day 3 of life and brainstem‐evoked response audiometry at 4 months of age. Five infants had associated congenital anomalies (19%). The behavioural audiometry was abnormal in seven infants (27%). The evoked response audiometry was abnormal in 4/23 (17%) newborn infants with isolated tags or pits, and revealed both conductive and/or sensorineural hearing impairment. The incidence of hearing impairment with isolated preauricular tag/pit was significantly higher (p < 0.001) than the incidence reported in preschool children. We conclude that hearing assessment is recommended in the routine evaluation of the newborn with isolated preauricular tags or pits. This policy may facilitate early diagnosis and treatment of hearing impairment in this population.