bluuebunny/crossref_metadata_2025 huggingface dataset:
Zinc supplementation increases growth velocity of male children and adolescents with short stature
Authors: Castillo‐Durán C , García H , Venegas P , Torrealba I , Panteón E , Concha N , Pérez P
Published: January 2008

We assessed the effect of zinc supplementation on growth velocity in 79 children and adolescents (48 males, 38 females) with idiopathic short stature. Their height‐for‐age was < 5th percentile (NCHS standards) and their weight‐for‐age was normal. Patients were assigned randomly to a supplemented group (S) to receive Zn 10 mg/day or to a placebo (P) group, according to gender and age, and were followed‐up for 12 months using a double‐blind design. Weight, height, armspan, length of lower segment and plasma and hair concentrations of Zn were measured at 0, 3, 6 and 12 months. On admission and at 6 months, energy, protein, dietary fiber and zinc intakes were similar for groups S and P; mean zinc intake was < 6.5mg/day. No differences were found in plasma zinc, hair zinc, weight. armspan or lower segment increments. Pre‐adolescent males in group S had a significantly greater increase in stature compared with group P (6.2 ± 2.1 versus 4.5 ± 1.2 cm/year p < 0.025); z score improved from —2.42 to —2.24 in group S and from — 2.63 to — 2.61 in group P. For adolescent males, the difference was also significant (8.3 ± 1.5 versus 6.2 & 2.1 cm/year; p < 0.025). No differences were noted in females. In Chilean male schoolchildren and adolescents with idiopathic short stature, zinc supplementation increases growth velocity over a 12‐month period.
Prognosis of asthma in children: a cohort study into adulthood
Authors: And B Kjellman , Hesselmar B
Published: January 2008

Fifty‐six children with asthma, randomly selected from a hospital clinic, were followed prospectively for 15 years from a median age of 9–24 years of age. Four follow‐ups were performed and included scoring of the frequency of wheezing, the need for medication, admissions to hospital, spirometry, skin prick tests and RAST to common inhaled allergens, and evaluation of living conditions. One patient died of asthma. The remaining 55 reported for all follow‐ups. After the second follow‐up at a median age of 13 years, all parameters of severity of asthma showed improvement, which was significant at the last follow‐up when all subjects were more than 20 years of age. Only 16% of the subjects had been free from wheezing and medication the year prior to the last follow‐up. Approximately 90% of the children had clinical allergies and positive allergy tests to pollens and danders and the majority of children retained both the allergies and the reactivity into adulthood. Reactivity to moulds and mites was less frequent (40% and 31 %, respectively) and seemed to decrease in adulthood. Approximately 10% of the subjects developed neither clinical allergies nor reactivity in allergy tests. Children with atopic eczema usually retained their eczema as adults. Frequent wheezing and abnormal spirometry in childhood and early onset of asthma were associated with poorer outcome. The social prognosis was excellent.
Lactate and pyruvate concentrations in capillary blood from newborns
Authors: Nielsen J , Ytrebø LM , Borud O
Published: January 2008

Using high pressure liquid chromatography on strong cation exchange column, we analyzed capillary blood from 141 healthy full‐term newborns for lactate and pyruvate concentrations. Total range of lactate was 367–3245 μmol/l and reference interval (mean ± 2 SD) was 260–2212 μmol/l. Total range of pyruvate was 10–141 μmol/l and reference interval (10th/90th percentile) was 12–71μmol/l.
Infant survival in Norway and Sweden 1985–88
Authors: Espehaug B , Daltveit AK , Vollset SE , Oyen N , Ericson A , Irgens LM
Published: January 2008

In recent years, considerable attention has been attached to the disquieting fact that infant survival is much lower in Norway than in Sweden. In the present study, comprising all live single births in Norway and Sweden during 1985–88, the observed infant mortality was 1.5 times higher in Norway than in Sweden. The largest difference between Norway and Sweden was found in infants of young mothers with high birth order. Thus for the second births of mothers aged less than 20 years the observed mortality ratio of Norway to Sweden was 1.8. The infant mortality ratio decreased with increasing maternal age for all birth orders, and for the second births of mothers aged 35 years or more the mortality ratio was 1.0. The higher infant mortality in Norway was evident throughout the first year of life, with the highest mortality ratio observed at 6–8 months of life. Adjustment for maternal age, birth order and geographical region did not alter the observed infant mortality ratios. In both countries, the highest risk was found among infants of young mothers, This suggests a need for a more extensive preventive health care system directed at young mothers during their pregnancy and the infancy period.
A sibship with recurrent Kawasaki disease and coronary artery lesion
Authors: Matsubara T , Furukawa S , Ino T , Tsuji A , Park I , Yabuta K
Published: January 2008

Although epidemiologic studies of Kawasaki disease suggest an infectious etiology, the cause of this mysterious disease remains unclear. We describe the occurrence of five episodes of Kawasaki disease over a six‐year period in three siblings. Two of the three children experienced recurrent Kawasaki disease and developed coronary artery lesions, which included giant coronary artery aneurysms in the youngest child. The non‐contemporaneous occurrence of the disease in these three children emphasizes the importance of a genetic basis and/or environmental factors in the etiology of Kawasaki disease.
Histopathological features of liver disease in alpha1‐antitrypsin deficiency
Authors: Deutsch J , Becker H , Auböck L
Published: January 2008

The classical alpha1‐antitrypsin deficiency (AATD) phenotype, PiZ, is an autosomal co‐dominantly inherited disease characterized by a secretory defect with accumulation of an altered protein in the endoplasmic reticulum. The clinical expression of this abnormality is variable but dominated by emphysema and liver disease (1). Liver disease is the predominant mode of presentation in infancy and childhood. The pathogenesis of liver disease is not yet known but may include an increased proteolytic attack and environmental as well as other genetic factors (2).

In this review the histopathological findings (light microscopy, immunocytochemistry and electron microscopy) in the liver of infants, children and adults with AATD are summarized (1–26).
Parents and children in art
Authors: Emery JL
Published: January 2008

It is an honour to have been asked to contribute to this volume that commemorates the life and work of Spyros Doxiadis. Spyros was, and is still, a vital and stimulating influence on those of us who were fortunate enough to have been his colleague in all phases of his life. My period of closeness to him was when he was working in Sheffield with Ronald Illingworth. At that time (now over 40 years ago) he and Katherine were having their children and my wife and I was having ours. Then words like “bonding” had not become commonplace as today, but the functional patterns of family relationships were something about which we were intensely aware. I particularly remember a summer when we were holidaying on a tidal estuary between Anglesey and Holy Island and recall a moment when Spyros and I were sitting on a grass topped sandbank watching our children and wives at the water's edge “messing around” with a boat. We watched and discussed the beauty of the postures and poses of our womenfolk with the children and the children with each other. It was the memory of that conversation that stimulated me to propose the topic of this essay in Spyros' memory.
Cellular basis of adult‐type hypolactasia
Authors: Auricchio Salvatore , Maiuri Luigi
Published: January 2008

In the proximal jejunum and distal ileum of adult rabbits and rats, the lactase protein and lactase activity are present only in patches of enterocytes, located principally on the lower part of the villi, whereas in the mid‐small intestine, lactase is present in all the villus enterocytes. In the proximal jejunum of adult rabbits, only a few vertical continuous sheets of lactase‐positive enterocytes arise from the base of the villus, suggesting that the patchy expression of lactase may have a clonal origin. In the proximal jejunum of adult humans with persistent high lactase activity, all the villus enterocytes express lactase; on the contrary, a patchy expression of lactase protein and lactase activity is present in hypolactasic tissues. The patches of lactase‐positive enterocytes are scattered randomly on the surface of the villus, suggesting that in hypolactasic humans the enterocyte heterogeneity occurs as a consequence of mechanisms that do not have a clonal origin.
Minerals and trace elements in infant nutrition
Authors: Davidsson Lena
Published: January 2008

Little information is available on absorption and metabolism of minerals and trace elements during infancy. The lack of data is related to the methodological problems involved in these studies. By using stable isotopes as labels, studies can be conducted in infants without introducing exposure to radiation, or any other risk, and studies on bioavailability of minerals and trace elements during early life can therefore be performed. This paper discusses results from studies of trace element/mineral absorption and metabolism in infants, based on stable isotope techniques.
Protein‐energy malnutrition in cystic fibrosis patients
Authors: Roulet Michel
Published: January 2008

Protein‐energy malnutrition with associated specific nutrient deficiencies is an important feature of cystic fibrosis and has been recognized as a poor prognostic factor. Therefore, the nutritional status of cystic fibrosis patients has to be evaluated regularly by diet diaries, clinical evaluation, anthropometry and more sophisticated methods, such as bioelectrical impedance analysis. Nutritional management, including nutritional rehabilitation programmes, of cystic fibrosis patients is well established today. Consequently, protein‐energy malnutrition is no longer acceptable in cystic fibrosis patients, except perhaps in end‐stage disease when lung transplantation is not considered.
Diagnostic imaging in necrotizing entercolitis
Authors: Fotter R , Sorantin E
Published: January 2008

The incidence and diagnostic value of roentgenograph and sonographic signs in necrotizing enterocolitis are presented. The current status in clinical application of Duplex‐Doppler sonography and colour‐coded Doppler sonography are discussed and a description of the different roentgenographic and sonographic signs including Doppler sonographic findings is given. Radiographic and sonographic indications for surgical treatment are proposed. The role of the different diagnostic imaging modalities in the early diagnosis and evaluation of progress in NEC is defined and a diagnostic algorithm for different stages depending on the severity of the disease is proposed. Routine application of sonography in such an algorithm can improve diagnostic accuracy in necrotizing enterocolitis.
Interdisciplinary treatment of necrotizing enterocolitis and spontaneous intestinal perforations in preterm infants
Authors: Harms K , Michalski S , Speer Ch P , Lüdtke FE , Lepsien G
Published: January 2008

From January 1986 to December 1992, 13 patients with necrotizing enterocolitis (NEC) (Grade II‐III; Bell) were treated. The incidence was highest in the very immature infants with birth weight < 1000 g: 6/148 (4%). From onset, NEC was associated with clinical symptoms such as abdominal distension, bloody stools, retained gastric contents and septicemia. Indications of inflammation were seen in only 6 out of 13 patients at the time of diagnosis. No complications were seen in 10 patients during the acute phase. Two infants developed a bowel perforation and another one a gangrene. Immediate surgery was performed. In three other infants, elective surgery was performed because of colonic strictures. Twelve (92%) patients survived NEC. Five other VLBW infants developed spontaneous perforations of the bowel. The clinical presentation, laboratory and radiological findings differed greatly from those with NEC. Four infants survived. A primarily conservative therapeutic regime with close cooperation between the surgeon and pediatrician may be an alternative to early surgical intervention in NEC.
Surgical strategies in very‐low‐birthweight neonates with necrotizing enterocolitis
Authors: Fasching G , Höllwarth ME , Schmidt B , Mayr J
Published: January 2008

Very‐low‐birthweight (VLBW) neonates are more prone to complications and death than term infants are. In a 15‐year period, 19 neonates with VLBW were operated on for necrotizing enterocolitis (NEC). Indications for operation were pneumoperitoneum in 12 and deterioration of general condition in 7. Bowel resection and intestinal diversion was performed in 12, a lateral enterostomy at the site of perforation was created in 5, and 2 neonates with necrosis of the whole bowel underwent an exploratory laparotomy without any further surgical treatment. Surgical complications were found in one‐third of the patients. The mortality rate was significantly higher when the ileum was affected. The survival rate was 68%. Prior to 1984 the survival rate was 37% (3/8); subsequently, it has improved to 91% (10/11) as a result of improved intensive therapy.
Necrotizing enterocolitis prophylaxis: oral antibiotics and lyophilized enterobacteria vs oral immunoglobulins
Authors: Fast Ch , Rosegger H
Published: January 2008

We conducted a prospective randomized trial to compare the efficacy of oral gentamicin versus oral IgA‐IgG for the prophylaxis of necrotizing enterocolitis (NEC); 200 newborns considered at high risk for NEC were assigned to group A (oral IgA‐IgG, n= 100) or group B (oral Gentamicin, n= 100). NEC was diagnosed in 13 cases in group A and in 1 case in group B between the 3rd and 16th days of life. Surgical treatment was necessary in 3 cases (2 in group A). All infants survived. We conclude that oral gentamicin is more effective than oral IgA‐IgG in the prevention of NEC in infants at high risk.
Alternative splice site selection in the human growth hormone gene transcript and synthesis of the 20 kDa isoform: role of higher order transcript structure
Authors: Estes PA , Urbanek M , Ray J , Liebhaber SA , Cooke NE
Published: January 2008

Expression of the human growth hormone (hGH) gene in somatotrophs of the anterior pituitary gland results in the synthesis and secretion of a major 22 kDa and a minor 20 kDa GH isohormone. The expression of these two proteins reflects the alternative utilization of a major (B) and a minor (B′) splice acceptor site in exon 3 of the hGH‐N transcript. By comparing the structure and splicing patterns of the hGH‐N gene transcript with that of the structurally related, placentally expressed, hGH‐V gene transcript, which uses only the major (B) exon 3 splice acceptor, it has been possible to define the cis‐acting elements in exon 3 that are critical for activation of the B′ splice acceptor. The present paper demonstrates that, in addition to the importance of sequences in the immediate proximity of the two alternative splice acceptor sites, additional more remote sequences in the transcript also contribute to this alternative splice site selection. The data further suggest that these more distal sequences do not act individually, but interact so that the net level of alternative splicing in exon 3 is dictated by the overall higher order structure of the hGH‐N transcript.
Improvement of diagnostic criteria in growth hormone insensitivity syndrome: solutions and pitfalls
Authors: Blum WF , Cotterill AM , Postel‐Vinay MC , Ranke MB , Savage MO , Wilton P ,   Pharmacia Study Group on Insulin‐like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes
Published: January 2008

A survey to identify children and adolescents with primary growth hormone insensitivity syndrome (GHIS) yielded 38 patients who were positively identified using a scoring system that included five criteria: height, basal growth hormone (GH), GH binding protein, basal insulin‐like growth factor 1 (1GF‐I) and the increase of IGF‐I after 4 days of GH administration (IGF generation test). Because of an overlap of the accepted and excluded groups with respect to points scored, an attempt was made to improve the scoring system. The new criteria were: height below –3 SDS, basal GH 4 mU/I or above, GH binding below 10%, basal IGF‐I and basal IGF binding protein‐3 (IGFBP‐3) below the 0.1 centile for age, an increase of IGF‐I in the IGF generation test less than 15 μg/1, and the increase of IGFBP‐3 less than 0.4 mg/1. With this scoring system, a clear separation between the accepted and the excluded groups was obtained. IGFBP‐3 was included to give the GH‐dependent parameters of the IGF system more weight and because the accuracy of IGFBP‐3 in the IGF generation tests was greater than the accuracy of IGF‐I, when the group of patients with GHIS was compared with a group of patients with GH deficiency. Unexpectedly, the IGF generation test was unable to segregate both cohorts completely. In the GHIS‐positive group, a significant correlation was found between basal IGF‐I or IGFBP‐3 levels corrected for age (SDS) and height SDS (r= 0.49, p < 0.002 and r= 0.61, p < 0.0001, respectively). There was also a significant correlation between the changes of IGF‐I or IGFBP‐3 in the IGF generation test and height SDS. That is, the patients with a slight response to GH were those with the least growth retardation, suggesting the existence of partial GH insensitivity.
Body changes in adolescent patients with growth hormone receptor deficiency receiving recombinant human insulin‐like growth factor I and luteinizing hormone‐releasing hormone analogue: preliminary results
Authors: Martinez V , Vasconez O , Martinez AL , Moreno Z , Davila N , Rosenbloom AL , Diamond FB , Bachrach L , Rosenfeld RG , Guevara‐Aguirre J
Published: January 2008

Auxological and body composition changes were studied in three adolescent patients (2 female, 1 male) with growth hormone receptor deficiency (GHRD) given insulin‐like growth factor I (IGF‐I), 120 μg/kg s.c. twice daily, plus a monthly intramuscular injection of 7.5 mg of a luteinizing hormone‐releasing hormone (LHRH) analogue. Preliminary results from the first 12 months of the study show that height velocity was increased compared with the pretreatment values. This increase was probably due to the IGF‐I therapy, as the LHRH analogue would have suppressed gonadotrophins and gonadal steroid production. There was a reduction in percentage body fat, and increases in lean mass and the leamfat ratio, whole body mineral content and body calcium content, even when expressed per kg body weight. There was also a trend towards increased bone mineral density of the whole skeleton, lumbar spine and femoral structures, as well as a maturation of facial features. These preliminary results indicate that concomitant therapy with IGF‐I and an LHRH analogue is safe and efficacious in inducing growth without advancing bone age in patients with GHRD.
Insulin‐like growth factor I actions on steroidogenesis
Authors: Chatelain PG , Avallet MO , Nicolino M , Lejeune H , Clark A , Chuzel F , Penhoat A , Saez JM
Published: January 2008

The best evidence that insulin‐like growth factor I (IGF‐I) contributes to normal steroidogenesis comes from patients with growth hormone (GH) insensitivity syndrome due to deletion of the GH receptor gene. These patients have severe GH resistance and severe IGF‐I insufficiency, and present with markedly delayed puberty without gonadotrophin insufficiency. The same applies to patients with severe isolated GH insufficiency due to GH gene deletion, in whom GH treatment results in normalization of puberty and gonadal steroidogenesis. Delayed sexual maturation is also observed in GH‐deficient Snell dwarf mice. These observations strongly suggest that IGF‐I plays a role in the endocrine function and differentiation of the gonads.
Mother‐to‐child HIV‐1 transmission: Quantitative assessment of viral burden as a diagnostic tool and prognostic parameter in HIV‐1‐infected children
Authors: De Rossi Anita , Ometto Lucia , Zanotto Carlo , Salvatori Francesca , Masiero Sara , Mammano Fabrizio , Chieco‐Bianchi Luigi
Published: January 2008

Polymerase chain reaction was performed in 251 infants born to HIV‐1‐seropositive mothers to diagnose HIV‐1 infection. Assay specificity was invariably > 95%, regardless of age at testing, while sensitivity ranged from 15% in neonates (within 48 h of birth) to > 95% in infants over 1 month of age. Evaluation of viral burden in 43 infected infants by means of quantitative DNA‐PCR disclosed that the number of HIV‐1 proviruses ranged from 5 to 947 per 100,000 peripheral blood mononuclear cells. Clinical follow‐up demonstrated that a high viral burden was associated significantly with disease onset.
HIV mass screening of infants and mothers: historical, technical, and practical issues
Authors: Grady George F
Published: January 2008

Screening groups of anonymous infants for HIV antibody, as an index of maternal infection rates, has been a widely used seroepidemiological method since being introduced in 1986 in Massachusetts (USA). One shortcoming has been the applicability only to parturient women, thus necessitating corrections for fertility rates in extrapolation to all women. A second disadvantage has been controversy and confusion about the distinction between anonymous seroprevalence studies and linked testing. However, there have been major advantages such as the “leading indicator” nature of the data obtained. Experience with screening nearly a half million Massachusetts newborns through December 1992 has shown seroprevalence rates stabilizing at 2.4 per 1000, and with consistent 10‐fold differences between groups of birth hospitals serving different socio‐economically defined populations. In addition to predicting the future of the AIDS epidemic in children, the information provides a reference point for comparing the completeness of targeted identifications of HIV infection in mothers and infants.
Policy, ethics, and reproductive choice: Pregnancy and childbearing among HIV‐infected women
Authors: Kass Nancy E
Published: January 2008

As the numbers of women infected with HIV continue to increase, there are more calls for women who are HIV‐infected not to have children, or for policies to be created that limit or try to influence the reproductive choices of HIV‐infected women. Although motivated by legitimate concerns, such potential policies may be problematic in terms of their threats to the autonomy of women and considerations of justice. An alternative counseling approach is proposed that advocates encouraging HIV‐infected women to make reasoned and considered decisions concerning childbearing. Such an approach would require providers to discuss with women not only the medical facts relevant to vertical transmission, but also many of the psychosocial issues relevant to the woman's interest in bearing a child. Moreover, the encounter would be contextualized to include discussion of issues unique to the woman's situation and other family considerations.
A Review of Neuromotor Tests and the Construction of a Scored Neuromotor Examination for Four‐Year‐Olds
Authors: Petersen M Bloch , Ellison P , Sharpsteen D
Published: January 2008

ABSTRACT. We have reviewed the methodologies in construction of some widely used tests and constructed a computer‐compatible scored method for the neuromotor evaluation of four year olds. Using the data from 333 neurological assessments, factor analysis indicated five subscales. Alpha coefficients show high reliability for both subscales and total scores. Using data from a second sample, we describe predictive validity for the five subscales and total score.
Techniques of enteral feeding in the newborn
Authors: Macagno F , Demarini S
Published: January 2008

Among techniques of enteral feeding, gastric bolus feeding still appears to be the method of choice for most newborn babies because it is both practical and inexpensive. Unstable preterm infants and those with severe respiratory diseases or with delayed gastric emptying time may not tolerate intermittent gastric feedings and may benefit from continuous gastric feedings. Transpyloric feedings do not seem to offer any advantage over continuous gastric feedings and should be reserved for infants at risk of aspiration, such as those with gastroesophageal reflux or delayed gastric emptying. Early low‐volume feedings appear beneficial and are not associated with increased morbidity. Once enteral feedings are established, daily increments of 10–20 ml/kg appear to be safe and not associated with an increased risk of necrotizing enterocolitis.
Human milk fortifiers
Authors: Guerrini P
Published: January 2008

Unsupplemented human milk does not normally provide enough protein and minerals to secure optimal growth in low birthweight infants. We compared the growth and biochemical status of 21 very low birthweight infants, fed on their own mothers’fortified milk (seven infants) or a high‐caloric‐density formula (14 infants). The human milk fortifier is made from a mixture of cows’milk proteins (40% whey, 45% casein) and amino acids (15%) and has been demonstrated to be appropriate to achieve a plasma amino acid profile similar to that of normal infants fed exclusively on human milk. Infants receiving fortified human milk showed growth and biochemical profiles comparable to those receiving high‐caloric‐density formula. The supplementation that we describe here confirms the good results well documented by other authors. It is easy to perform and can be an acceptable alternative to the more sophisticated procedure of “lacto‐engineering”.
Adenylate cyclase, a biochemical marker of alcoholism?
Authors: Pattiselanno SE , Gunning WB , Schoffelmeer ANM
Published: January 2008

A possible biochemical vulnerability (trait) marker is examined in a cross‐sectional study to determine the biochemical factors associated with the development of alcoholism in a population of non‐adult children of alcoholics. The activity of adenylate cyclase, an enzyme that plays a role in the signal transduction pathway of several hormones and neurotransmitters, is assessed in blood platelets. This activity was reported to be lower in blood cells of alcoholics and abstinent alcoholics compared with that in controls. In addition, dysregulation of adenylate cyclase in the CNS of animals seems to be involved in drug‐seeking behaviour. The relation between these biochemical findings and psycho‐pathology is currently being investigated in a project by the Amsterdam Institute for Addiction Research.
Developmental outcomes of children of mothers dependent on heroin or heroin/methadone during pregnancy
Authors: Soepatmi S
Published: January 2008

Developmental outcomes of infants of drug‐dependent mothers (IDDM) who used heroin during pregnancy, alone or in combination with methadone, were unfavorable compared with outcomes of infants of mothers who were not drug dependent or infants in the general population. Unfavorable items for IDDM were: gestational age and birth weight, physical growth, neurological development, intelligence, behavior, social competences and social state (foster care). Prenatal care with social support and methadone substitution were critical factors for IDDM. The IDDM in foster care appeared to exhibit even more unfavorable outcomes than those living with their biological parents.
“Separation” of the mother‐child couple: pregnancy and maternity of drug‐dependent women
Authors: Conte GL , Mazzoni S , Serretti A , Fundarò C , Tempesta E
Published: January 2008

Children of drug addicts are at risk of neglect and scanty maternal care. The objective of the present study was to identify homogeneous subgroups within a sample of drug addicted women, according to the quality of the outcome of the mother‐child relationship. A group of 13 opiate‐addicted women, followed from the seventh month of pregnancy up until the child was 2 years of age, underwent psychometric evaluation and was subdivided into two distinct groups based on whether the child remained within the family nucleus or was entrusted to a foster family or institution. The psychometric instrument used, an adaptation of Osgood's semantic differential which investigates maternal representations, allowed us to identify items with a very high predictability for the outcome of the mother‐child relationship.
Diet and body composition of preterm infants
Authors: Bell EF
Published: January 2008

There have been few systematic studies of the effects of energy and protein intake on the body composition of preterm infants. Analysis of published studies suggests a roughly inverse relation between energy stored per gram of weight gain (a measure of the fatness of new tissues) and the ratio of protein to energy in the preterm infant's diet. At least within a certain range of energy and protein intakes, a higher protein diet promotes leaner body composition. Studies of the effects of varying the dietary ratio of carbohydrate to fat in preterm infants have shown reduced rates of carbon dioxide production with high‐fat diets, fed by either the parenteral or enteral route. The little information available suggests no clear effect of varying the carbohydrate‐to‐fat ratio on body composition. The mineral content of the body can be influenced by diet. Insufficient intakes of calcium and phosphorus reduce the bone mineral content and thus the whole‐body content of these minerals.
Food and microbiological problems in the newborn: data and practice
Authors: Wharton BA , Balmer SE , Noy MF
Published: January 2008

We have reviewed the relationships of food, nutrition and feeding practices to various infections in the newborn. Tentative conclusions are made: (a) the initial use of human milk (raw or pasteurized) continues to offer advantages in the care of babies in intensive care; (b) attempts to mimic the microbiological effects of breast milk by manipulation of the composition of infant formulas have so far achieved little success, but this is a rapidly developing field; (c) we are wary of the widespread use of breast milk “fortifiers” until there is evidence that they do not adversely affect the protective properties of breast milk; (d) the doubtful advantages of nasojejunal feeding need to be weighed against the increased bacterial contamination of the upper small bowel; (e) systems monitoring in milk kitchens and the handling of feeds in the neonatal unit are an integral part of comprehensive neonatal care; (f) to limit nosocomial infection, particular attention to the faecal‐food‐oral route is necessary since there is potential for multiplication of initial contamination of food.
Substrate utilization during the first weeks of life
Authors: Sauer PJJ , Carnielli VP , Sulkers EJ , van Goudoever JB
Published: January 2008

It is assumed that substrate utilization changes markedly around birth, from mainly glucose utilization before, to glucose/fat utilization after birth. We studied substrate oxidation and turnover in preterm infants on the first day and during the first weeks of life. We found that only part of the glucose that is infused on the first day of life is oxidized, while glucose is also converted into fat at the same time. Almost half of the energy expenditure is provided by fat oxidation on day 7 and 28 of life. Fat oxidation is dependent on the type of fat oxidized; the rate of oxidation of medium chain triglycerides (MCT) is higher than that of long chain fatty acids. MCT can replace glucose as an energy source. Proteins contribute only to a small extent (approximately 7%) to the energy expenditure at all ages.
Essential fatty acid metabolism and requirements for LBW infants
Authors: Uauy‐Dagach R , Mena P , Hoffman DR
Published: January 2008

Humans are unable to synthesize linoleic acid (LA) (18: 2ω‐6) and α‐linolenic acid (LNA) (18: 3ω‐3). Most formulas provide ample LA, yet infants are at risk for ω‐3 deficiency unless they are fed human milk. Neonates born at 30 weeks received human milk or were randomized to three formulas: formula A, based on corn oil, similar to old commercial formula; formula B, based on soy oil supplied LNA; or formula C, a product similar to B with added marine oil to provide docosahexaenoic acid (22:6 ω‐3). The fatty acids of plasma and red blood cells had marked diet‐induced differences. The rod photoreceptor tests demonstrated higher threshold and decreased sensitivity in the ω‐3‐deficient infants. Visual acuity also showed improved function of the brain cortex in the human milk and group C infants at follow‐up at 57 weeks. These results suggest that ω‐3 fatty acids are needed for optimal development of visual function.
Influence of early diet on outcome in preterm infants
Authors: Morley R , Lucas A
Published: January 2008

Despite intensive research in infant nutrition over the past 50 years, uncertainty exists in nearly every major area of practice. A key factor in this uncertainty has been the lack of knowledge on whether diet or nutritional status in early life has a long‐term or permanent influence on health, growth or performance. The possibility that early nutrition has long‐term consequences in man has been much debated. There have been limited opportunities to perform formal randomized studies on the effect of early nutrition in humans and many studies have been flawed by problems with study design. Infants born preterm are a special group. At the start of our study in 1982, evidence on which to base choice of diet was inconsistent and related only to short‐term outcome, and diets available for such babies differed greatly in nutrient content. In this group it was both ethical and practical to conduct a formal, randomized trial of early diet and outcome and the results were clearly needed for management decisions. We have undertaken a long‐term prospective outcome study on 926 preterm infants randomly assigned to the diet received in the neonatal period. Surviving children have been followed at 9 months, 18 months and now 7.5‐8 years of age. Our findings suggest that human milk may contain factors which promote brain growth or development and also bone mineralization later in childhood. Outcome data from the randomized trials show that a very brief period of dietary manipulation (on average for the first 4 weeks of life) influences later development.
Population genetics of phenylketonuria
Authors: Eisensmith RC , Woo SLC
Published: January 2008

Phenylketonuria (PKU) is an autosomal recessive disorder caused by a large number of mutations at the phenylalanine hydroxylase (PAH) locus, most of which are strongly associated with specific RFLP or VNTR haplotypes. One of the major questions remaining in PKU research is why this apparently maladaptive disorder has been maintained at a frequency of approximately 1 in 10000 among Caucasians. A growing number of studies have provided evidence that both the relatively high frequency of PKU and the strong mutation/haplotype associations might reflect the existence of multiple founding populations for PKU. Examples of putative founding populations for PKU in both Europe and Asia will be presented. Some PAH mutations are associated with multiple haplotypes, suggesting recurrence. Evidence for and against recurrence as the mechanism responsible for the association of the R408W mutation with RFLP haplotypes 1 and 2 will be discussed.
Molecular analysis of PKU in Ireland
Authors: O'Neill CA , Eisensmith RC , Croke DT , Naughten ER , Cahalane SF , Woo SLC
Published: January 2008

Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of <10%. VNTR analysis showed that the R408W mutation is associated with the VNTR‐8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR‐3; an observation which has led several groups to propose a Balto‐Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR‐8 chromsome background in the Irish/Celtic population.
Treatment of phenylalanine hydroxylase deficiency
Authors: Smith I
Published: January 2008

In phenylalanine hydroxylase deficiency detected by screening treatment in early life, both age at start of treatment and phenylalanine control during treatment are the major determinants of eventual psychological status. The influence of phenylalanine control declines with age but executive performance is influenced by hyperphenylalaninaemia at all ages. In a few subjects neurological deterioration has been reported years after relaxing or stopping treatment. MRI changes in brain white matter are present in most subjects no longer on a strict diet. These changes are usually reversible and closely related to phenylalanine status at the time of investigation. Whether or not the changes point to a specific vulnerability of white matter remains uncertain, although MRI changes were particularly prominent in subjects with neurological disability and may be irreversible in such subjects. Policies on treatment have to take account of these findings.
MRI characterization of cerebral dysgenesis in maternal PKU
Authors: Allen RJ , Brunberg J , Schwartz E , Schaefer AM , Jackson G
Published: January 2008

MPKU pregnancies, with or without dietary treatment to reduce maternal plasma phenylalanine (phe), show variable, increased non‐physiologic levels, as the putative cause of fetal teratogenicity. Cerebral dysgenesis with clinical neonatal microcephaly and congenital heart disease indicates altered organ morphogenesis. Although there is not an established precise relationship between maternal phelevels and outcome, dietary restriction before or early in gestation is universally advised. Both human experience and animal research have suggested differential organ responses to high and low phe levels. Structural micrencephaly may be due to reduced brain volume or abnormal regional brain development. Infants in MPKU are also at risk to develop PKU. Micrencephaly was evident by MRI in 8 of 21 infants born to 12 MPKU mothers; 2 infants of one mother developed PKU. All levels of gestational plasma phe were associated with otherwise structurally normal infant micrencephalic brains appropriate for age in myelination. CHD occurred in one micrencephalic infant of a classic MPKU treated in the first trimester. Maternal, cord and neonatal plasma phenylalanine at delivery did not correlate with teratogenic effects. Only untreated ‘classic’ MPKU fetal effects appear predictable.
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency
Authors: Lou HC
Published: January 2008

Phenylalanine and tyrosine constitute the two initial steps in the biosynthesis of dopamine, which, in its turn, is the metabolic precursor of noradrenaline and adrenaline. The extracellular phenylalanine concentration influences brain function in phenylalanine deficiency (PHD) by decreased dopamine synthesis. It has been shown to induce EEG slowing, and prolonged the performance time on neuropsychological tests. The tyrosine concentration in the CNS is reduced in PHD, possibly implying insufficient substrate (= tyrosine) for catecholamine synthesis due to competition inhibition, for instance across the blood brain barrier. In experimental studies it has been shown that the synthesis and release of dopamine can be influenced by an increase in the availability of tyrosine. In PHD an extra dietary intake of three doses of tyrosine (160mg/kg/24h) induced a shortsning of reaction time and decreased variability, and in a double‐blind crossover study a similar dose has been reported to induce an improvement on psychological tests. In a study with lower doses of tyrosine (110mg/kg/24h) no effect was found on reaction time tests. These findings need to be substantiated, and more detailed information should be obtained.
Phenylalanine levels of 6‐10mg/dl may not be as benign as once thought
Authors: Diamond A
Published: January 2008

Results of a longitudinal study of children treated early and continuously for phenylketonuria (PKU) indicated that those children whose plasma phenylalanine (Phe) levels were approximately 3‐5 times normal (6‐10 mg/dl; levels previously considered safe in the US) were impaired in cognitive functions dependent on prefrontal cortex. In particular, the children had difficulty when required to hold information in the mind and, at the same time, exercise inhibitory control to resist doing what might be their first inclination. The deficits were evident in relation to each of several comparison groups and at all three age ranges (infants, toddlers and young children). The deficits appeared to be selective in that the same children who were impaired on the prefrontal cortex tests performed normally on the control tests. Since most of the control tasks tap functions dependent on parietal cortex or the medial temporal lobe, these results suggest that those functions are spared. To investigate the biological mechanism causing these cognitive deficits, we created an animal model of early‐treated PKU. The results indicated that rats whose plasma Phe levels were mildly, but chronically, elevated had cognitive deficits (impaired performance on a behavioral task dependent on frontal cortex (delayed alternation)) and neurochemical changes (most notably, reduced dopamine metabolism in frontal cortex).
Social behaviour and task orientation in early‐treated PKU
Authors: Kalverboer AF , van der Schot LWA , Hendrikx MMH , Huisman J , Slijper FME , Stemerdink BA
Published: January 2008

In the context of the Dutch Collaborative Study on the Psychological Development of Children, early treated for Phenylketonuria (PKU), data were obtained on children's behaviour as perceived by parents (n= 53) and teachers (n= 57), using standardized behavioural questionnaires. Results are compared with group representative of Dutch school‐aged children (n= 1381) with matched control group (n= 38), and with a group, to be considered as “Attention Deficit Hyperactivity Disorder” (ADHD, n= 38). Especially the clusters “negative task orientation” and “extraversion” distinguish between PKU children and controls. In parents' descriptions as well as in teachers' descriptions PKU children score higher in both clusters. Intriguing differences are found between PKU and ADHD. In parents' but not in teachers' descriptions PKU children show signs of negative task orientation almost to similar degree as children with ADHD, but not of the signs of “negative social behaviour”, characteristic for ADHD children. Data are discussed in terms of the effectiveness of early treatment and guidance.
Daily Ingestion of Immunologic Components in Human Milk during the. First Four Months of Life
Authors: BUTTE N. F. , GOLDBLUM R. M. , FEHL L. M. , LOFTIN K. , SMITH E. O. , GARZA C. , GOLDMAN A. S.
Published: January 2008

ABSTRACT. The amounts of lactoferrin, lysozyme, SIgA and SIgA antibodies to E. coli somatic antigens in human milk ingested per day and per kg per day by breast‐fed infants were determined during the first four months of life. A gradual decline in the amounts of lactoferrin, SIgA, and SIgA antibodies ingested per day or per kg per day was found, whereas the quantities of lysozyme ingested by the infants rose during that period. These data suggest that the production and secretion of these immunologic factors by the mammary gland may be linked to the ontogeny of the production or catabolism of those components at mucosal tissues of the recipient infant.
Vitamin A Nutrition in the Human Foetus: A Comparison of Sweden and Ethiopia
Authors: GEBRE‐MEDHIN MEHARI , VAHLQUIST ANDERS
Published: January 2008

ABSTRACT. The accumulation of vitamin A during foetal development was investigated post mortem in foetuses and newborn infants of well‐defined socio‐economic groups of Swedish and Ethiopian women. The median vitamin A concentration in the liver was 37.0 μg/g in the Swedish foetuses (n=39) and 9.1 μg/g in the Ethiopian ones (n=49) (p<0.001). The liver vitamin A concentration in the Swedish foetuses increased exponentially during the second and third trimesters of pregnancy. This trend was not evident in the Ethiopian material. The mean serum concentration of retinol‐binding protein was only slightly lower in the healthy Ethiopian newborns (18.6 mg/l; n=70.) than in the Swedish newborns. This finding suggests that vitamin A is retained i the foetal circulation in preference to storage, much like the situation in a vitamin A deficiency state in the adult.
Follow‐up of Children of Insulin‐dependent and Gestational Diabetic Mothers: Neuropsychological Outcome
Authors: PERSSON B. , GENTZ J.
Published: January 2008

ABSTRACT. Ninety‐four infants of 28 weeks gestation or more were born to 85 women, 64 type I and 21 gestational diabetics, between 1969–1972 at Sabbatsberg's Hospital, Stockholm. Perinatal mortality rate was 6.3%. The follow‐up study was conducted when the children were approximately 5 years of age and included a physical and a neurological evaluation, IQ determination of mother and child, and an interview of mother by a psychologist. Fifty‐three infants of insulin‐dependent (IDM) and 20 infants of gestational diabetic mothers (IGDM) (83 %) participated, 3 families could not be traced and 12 were unwilling. The group lost to follow‐up (13 IDM, 2 IGDM) had more perinatal complications induding congential malformations than the follow‐up group. All children had normal physical and neurological development. IQ was normal, the majority were above 100, the average in IDM was 115 (range 89–144) and 112 in IGDM (range 95–133). No obvious relationship was found between maternal acetonuria during pregnancy, infant birthweight, blood glucose during first hours after birth or neonatal complications and IQ of the children. A correlation (r= 0.364, p<0.01) was found between maternal and child IQ. Mothers exhibiting emotional disorders (anxiety, depression) had significantly higher life stress scores based on 29 stress variables and reported more frequently about conduct and behavioural disorders in their children than mothers without emotional disturbances.
Increased urinary excretion of collagen crosslinks in girls with Ullrich‐Turner syndrome
Authors: Rauch F , Seibel M , Woitge H , Kruse K , Schönau E
Published: January 2008

Skeletal abnormalities and “osteoporosis” are frequent features of Ullrich‐Turner syndrome (UTS), but their cause remains largely unknown. In this study, we compared the urinary excretion of hydroxyproline (OHP), pyridinoline (PYD) and deoxypyridinoline (DPD) in 28 girls (bone age 3.5‐11.0 years, mean 7.4 years) with UTS and 30 healthy prepubertal children (chronological age 3.9‐10.9 years, mean 7.6 years). Expressed relative to the square of the height, the excretion of both collagen crosslinks was significantly higher in UTS than in controls (23.4% for PYD, 33.6% for DPD, p < 0.05). In contrast, no significant difference was found for OHP. The molar PYD/DPD ratio was significantly lower in UTS children than in controls (mean (±SD) 3.4 (±0.41) versus 3.8 (±0.55); p= 0.004). While the higher excretion of collagen crosslinks reflects enhanced bone resorptive activity in UTS, the lower PYD/DPD ratio might be due to structural alterations in collagen.