OBJECTIVE: The aims of this study were to investigate gross motor development in Greek infants and establish AIMS percentile curves and to examine possible association of AIMS scores with socioeconomic parameters. METHODS: Mean AIMS scores of 1068 healthy Greek full-term infants were compared at monthly age level with the respective mean scores of the Canadian normative sample. In a subgroup of 345 study participants, parents provided, via interview, information about family socioeconomic status. Multiple linear regression analysis was performed to evaluate the relationship of infant motor development with socioeconomic parameters. RESULTS: Mean AIMS scores did not differ significantly between Greek and Canadian infants in any of the 19 monthly levels of age. In multiple linear regression analysis, the educational level of the mother and also whether the infant was being raised by grandparents/babysitter were significantly associated with gross motor development (p=0.02 and p<0.001, respectively), whereas there was no significant correlation of mean AIMS scores with gender, birth order, maternal age, paternal educational level and family monthly income. CONCLUSIONS: Gross motor development of healthy Greek full-term infants, assessed by AIMS during the first 19months of age, follows a similar course to that of the original Canadian sample. Specific socioeconomic factors are associated with the infants’ motor development.

BACKGROUND: suPAR, the soluble form of the urokinase-type plasminogen activator receptor, has been identified as a biomarker of infection in adults but its properties in neonatal infection are not known. METHODS: Plasma suPAR levels were determined by ELISA in 47 term neonates with infection (19 bacterial and 28 viral) and in 18 healthy neonates as controls. Thirteen out of 47 infected neonates were septic. In all infected neonates, suPAR levels were repeated at 24 hours, 48 hours, 3-5 days, and 7-10 days following admission. RESULTS: Plasma suPAR levels were significantly increased in infected neonates upon admission, whereas they were highest in septic neonates, in comparison with controls (P < 0.001) and correlated positively with serum CRP levels (P = 0.001). At infection subsidence, suPAR concentrations decreased significantly in comparison with baseline (P < 0.001) but remained higher than in controls (P = 0.01). Receiver operating characteristic analysis resulted in significant areas under the curve for detecting either infected or septic neonates, but not for discriminating between bacterial and viral cause of infection. CONCLUSIONS: suPAR is a diagnostic biomarker of infection or sepsis in term neonates; however, it cannot discriminate bacterial from viral infections and also its utility for monitoring the response to treatment is questioned.

Microvillus inclusion disease (MVID), a rare severe congenital enteropathy characterized by intracytoplasmic microvillous inclusions and variable brush border atrophy on intestinal epithelial cells histology, is associated with defective synthesis or abnormal function of the motor protein myosin Vb encoded by the MYO5B gene. Although MYO5B gene is expressed in all epithelial tissues, it is unclear so far whether organs other than intestine are affected in MVID patients. We report a case of an infant with MVID who presented liver dysfunction, hematuria, and Pneumocystis jiroveci pneumonia during the course of the disease. It is discussed whether extraintestinal manifestations in this patient are secondary consequences of MVID or might be features of the disease associated with altered MYO5B function. Conclusions: MVID is classically included in the differential diagnosis of congenital diarrhea of secretory type. Recent advances in our knowledge regarding the role of myosin Vb in the pathophysiology of MVID is expected to clarify the clinical spectrum of the disease and the possible primary involvement of organs other than intestine.

BACKGROUND: Neonatal immune neutropenia (NIN) is a rare, but potentially life-threatening, disorder caused by maternal alloantibodies recognizing paternal neutrophil antigens on fetal cells. Alloantibodies directed against the human neutrophil alloantigen system (HNA)-1 located on Fcγ receptor IIIb (FcγRIIIb) are most frequently implicated in NIN. In this report, we describe two cases of NIN with alloantibodies against FcγRIIIb, which did not match one of the known HNA-1a, -1b, or -1c specificities, but define a new antigen, HNA-1d. STUDY DESIGN AND METHODS: Neutrophil-reactive antibodies were detected by agglutination, microscopic immunofluorescence, and monoclonal antibody (MoAb)-specific immobilization of neutrophil antigens (MAIGA) assay. For epitope mapping of FcγRIIIb-reactive antibodies, recombinant chimeric variants of FcγRIIIb were used in the MAIGA assay. Genotyping of FCGR3B was performed by allele-specific polymerase chain reaction. RESULTS: Both mothers were typed FCGR3B*01+, *02-, *03+. Antibody screening revealed the presence of alloantibodies reactive with FcγRIIIb encoded by FCGR3B*02, but not with FcγRIIIb encoded by FCGR3B*03. MAIGA with recombinant, partly chimeric FcγRIIIb variants demonstrated that the antigen recognized by maternal antibodies is characterized by two amino acids, Ala78 and Asp82. Among the FCGR3B alleles, the sequence Ala78–-Asn82 is exclusively encoded by FCGR3B *02. CONCLUSION: A previously unrecognized second antigen, HNA-1d, is present on FcγRIIIb encoded by FCGR3B*02. This antigen is characterized by the sequence Ala78–-Asn82. It appears that only individuals carrying the HNA-1c phenotype can form anti-HNA-1d alloantibodies. The HNA-1 system now consists of four antigens encoded by three alleles.

BACKGROUND: Influenza is associated with an increased risk for serious illness, hospitalization, and mortality in infants aged <6 months. However, influenza vaccines are not licensed for administration in this age group. The study evaluated the effectiveness of postpartum influenza vaccination of mothers and household members in infants. METHODS: The influenza vaccine was offered to mothers and household members of neonates born or hospitalized in 3 hospitals prior to the 2012-2013 season. Mothers were contacted every 2 weeks during the influenza season, and data regarding the onset of fever and/or respiratory symptoms in infants, healthcare seeking, hospitalization, and administration of antibiotics were collected. RESULTS: The study group consisted of 553 mothers who delivered 573 neonates. The influenza vaccine was administered to 841 of 1844 (45.6%) household contacts. Vaccination coverage rates ranged between 41.9% for neonates siblings and 49% for mothers. Five hundred thirty infants were analyzed for vaccine effectiveness. For outcomes in the infant, postpartum maternal vaccination had 37.7% effectiveness against acute respiratory illness (ARI), 50.3% against a febrile episode, 53.5% against influenza-like illness (ILI), 41.8% against related healthcare seeking, and 45.4% against administration of antibiotics. Multiple logistic regression analyses showed that maternal influenza vaccination was significantly associated with a decreased probability for febrile episodes, ARIs, and/or ILIs in infants, related healthcare seeking, and/or administration of antibiotics during the influenza season. Vaccination of other household contacts had no impact. CONCLUSIONS: Maternal postpartum vaccination against influenza was associated with a significant reduction of influenza-related morbidity, healthcare seeking, and antibiotic prescription in infants during the influenza season.

{OBJECTIVE: α-Klotho (α-KL), a protein with antiaging properties, regulates phosphate, calcium, and bone metabolism, induces resistance to oxidative stress, and may participate in insulin signaling. The role of α-KL in neonates, known to be prone to metabolic disturbances and oxidative stress, is not known. The aim of this study was to evaluate circulating soluble α-KL concentrations in preterm and full-term neonates and unravel possible correlations with growth, metabolism, and indices of oxidative stress. DESIGN: Prospective study. METHODS: Plasma-soluble α-KL levels were determined by specific ELISA in 50 healthy neonates (25 preterm, mean (s.d.) gestational age (GA) 33.7 (1.1) weeks, and 25 full-term infants) at days 14 and 28 of life. Associations of α-KL with anthropometric, metabolic parameters, and indices of oxidative stress were examined. RESULTS: α-KL levels were significantly higher in full-term than in preterm infants at both days 14 (1099 (480) pg/ml vs 884 (239) pg/ml respectively; P<0.05) and 28 (1277 (444) pg/ml vs 983 (264) pg/ml respectively; P<0.01). In both preterm and full-term infants, α-KL levels increased significantly from day 14 to 28 of life (P<0.001). Circulating α-KL concentrations correlated with GA (β=0.32

Pasteurella multocida is usually transmitted by animal contact; however, in a significant proportion of cases, no animal exposure can be identified. Although vertical transmission has been identified in neonates, horizontal human-to-human spread has not been documented. A case of neonatal sepsis and meningitis resulting from horizontal transmission of P. multocida is described.

Oseltamivir was administered at 1.0 mg/kg b.i.d. to 13 neonates exposed to influenza H1N1. No influenza, neurologic, or laboratory adverse effects occurred. The mean Cmax values for oseltamivir and oseltamivir carboxylate were found to be lower than those reported for children 1 to 5 years old, whereas Tmax values were similar to children 1 to 5 years old. Age and gender were found to significantly affect oseltamivir clearance.

Young infants are at increased risk for influenza-associated serious illness, onset of complications, utilization of health-care services, and hospitalization. We investigated the feasibility and acceptance of an influenza vaccination (cocooning) strategy by household contacts implemented in a maternity hospital and the neonatal unit of a pediatric hospital in Athens. A total of 224 mothers (mean age: 30.2 years) who gave birth to 242 neonates were studied. Of them, 165 (73.7%) mothers were vaccinated. Multiple logistic regression revealed that statistically significant factors associated with increased vaccination rates among mothers were: being of Roma origin (p-value=0.002), being an immigrant (p-value=0.025), giving birth to a neonate with birth weight <2500g (p-value=0.012), and residing in a family with >=4 family members (p-value=0.017). Of the 224 fathers, 125 (55.8%) received the influenza vaccine. Fathers of neonates whose mothers were vaccinated had 6-fold higher vaccination rates compared to fathers of neonates whose mothers refused vaccination (p-value<0.001). Overall, influenza vaccine was administered to 348 (46.9%) of a total of 742 household contacts of the 242 neonates. Upon entering the 2011-2012 influenza season, 51 (22.7%) of 224 families had all household contacts vaccinated against influenza (complete cocoon). Among parents, the statement "I do not want to receive the vaccine" was the prevalent reason for declining influenza vaccination, followed by the misconception "I am not at risk for contacting influenza" (41.1% and 38.2%, respectively).

BACKGROUND: Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii. Acute infections in pregnant women may be transmitted to the fetus and cause severe illness. The purpose of this study was to establish a dedicated surveillance network (DSN) for congenital toxoplasmosis (CT) in Greece, in order to assess the birth prevalence of CT. METHODS: A DSN of thirty clinicians was established for reporting CT cases from hospitals throughout Greece. The clinicians were selected on the basis that there was a high possibility the suspected cases would be referred to them from district hospitals or private clinics. Suspected cases of CT were reported on a monthly basis with a zero reporting card during a surveillance period from April 2006 to December 2009. A questionnaire was sent for any suspected case to record information including demographic parameters, clinical signs and symptoms and laboratory results. Serological and molecular confirmation of cases was performed by the Pasteur Hellenic Institute. All newborns suspected of CT received treatment and were serologically and clinically followed up for one year. RESULTS: The monthly response rate reached 100%, although only after reminders sent to 65% of the participant physicians. Sixty-three suspected CT cases were recorded by the DSN during the study period including fourteen confirmed and seven probable cases. Ten cases (47.6%) presented with symptoms at birth. Chorioretinitis was the most prominent manifestation, occurring in five symptomatic CT cases (50%). No other symptoms appeared by the end of the one year clinical follow up. No case was recorded by the existing surveillance system of the Hellenic Center of Disease Control and Prevention (HCDCP) during the same time period. Birth prevalence was estimated at 0.45, 0.51 and 0.51 per 10,000 births for 2007, 2008 and 2009 respectively. The incidence rate of symptomatic CT at birth was estimated at 0.10 cases per 10,000 births per year in Greece (for the period 2007-2009). CONCLUSION: The DSN for CT proved to be more sensitive than the classical notification system, easy in application and very efficient in reporting rare diseases such as CT. Similar DSNs could be used to provide useful information on other rare diseases.

{The adipokine visfatin has been proposed to exert insulin-mimicking effects and to play a role in the development of metabolic syndrome. Preterm infants are at risk for the later development of insulin resistance and, possibly, for other components of metabolic syndrome. Dietary long-chain polyunsaturated fatty acids (LCPUFAs) during the perinatal period may reduce the risk of metabolic syndrome. The authors’ objective was to study the circulating concentrations of visfatin in preterm infants and to examine associations of visfatin with anthropometric measurements, metabolic indices, and dietary LCPUFAs. Serum visfatin concentrations were determined by enzyme-linked immunosorbent assay at mean (SD) 33.8 (11.7) days of life in 60 healthy preterm infants (gestational age, 32.7 [1.9] weeks) randomly assigned to be fed since birth either a formula containing LCPUFA (arachidonic and docosahexaenoic acid) (+LCPUFA group) or the same formula without LCPUFA (-LCPUFA group). Associations of visfatin with anthropometric parameters, serum glucose, insulin, homeostasis model assessment index of insulin resistance, blood lipids, and adiponectin levels were examined. Serum visfatin levels were significantly higher in the +LCPUFA than in the -LCPUFA group (P < .001) and correlated positively with body weight z score (β = 0.31

Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient’s severe phenotype and early death.

OBJECTIVE: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH). SUBJECTS AND METHODS: We sequenced the ABCC8, KCNJ11, GCK, GLUD1, and/or HNF4A genes in 220 patients with HH responsive to diazoxide. The order of genetic testing was dependent upon the clinical phenotype. RESULTS: A genetic diagnosis was possible for 59/220 (27%) patients. K(ATP) channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%). Seven of the 11 probands with a heterozygous HNF4A mutation did not have a parent affected with diabetes, and four de novo mutations were confirmed. These patients were diagnosed with HI within the first week of life (median age 1 day), and they had increased birth weight (median +2.4 SDS). The duration of diazoxide treatment ranged from 3 months to ongoing at 8 years. CONCLUSIONS: In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family history of diabetes, once K(ATP) channel mutations have been excluded.

A case of a neonate with congenital chylous ascites resulting from primary lymphatic dysplasia is described. The baby also presented with a sludge ball in the gallbladder that eventually progressed to gallstones. The association of chylous ascites with cholelithiasis in this neonate is discussed.

{BACKGROUND: Adipocyte fatty acid binding protein (a-FABP) has been suggested to play an important role in the pathogenesis of metabolic syndrome. Preterm infants are at risk for the later development of insulin resistance, and, possibly, other components of metabolic syndrome. AIM: To determine circulating levels of a-FABP in preterm infants and examine possible associations of a-FABP with metabolic indices (serum lipids, glucose, and insulin levels, and homeostasis model assessment index of insulin resistance [HOMA-IR]), levels of leptin and adiponectin, anthropometric parameters and weight gain. STUDY DESIGN: Prospective cohort study. SUBJECTS: 55 healthy preterm (mean [SD] gestational age 32.8 [1.8] weeks) and 23 fullterm infants (reference group). OUTCOME MEASURES: Serum a-FABP, lipids, glucose, insulin, leptin and adiponectin levels at 31.9 [10.4] days of life. RESULTS: Serum a-FABP levels did not differ significantly between preterm and fullterm infants. A-FABP levels correlated positively with total-cholesterol [total-C] in both preterm and fullterm infants (beta=0.33; p=0.01 and beta=0.33; p=0.04, respectively). In addition to total-C, weight gain correlated independently with a-FABP levels in preterm infants (beta=0.36

BACKGROUND: The Alberta Infant Motor Scale (AIMS) is a norm-referenced test that assesses the spontaneous motor performance of infants from birth through independent walking (0-18 months). This scale has been utilized for clinical and research purposes in various countries, however, whether the initial standardization in Canadian infants is also representative of other countries’ populations has been questioned. AIM: To assess whether the AIMS needs new reference values for Greek infants. METHODS: A cohort of 424 healthy full-term infants (250 boys and 174 girls), aged between 7 days and 18 months, derived from various areas of the Prefecture of Attica and from all socio-economic classes to ensure a true representation, was studied. The AIMS-scores of Greek infants were compared with the norm-referenced values of the original Canadian population reported by Piper and Darrah. RESULTS: The mean AIMS-scores did not differ significantly between Greek and Canadian infants at any age level from birth to 18 months, except for the 2-<3 month of age when higher scores were observed in Greek infants (p=0.02). There was no significant difference in AIMS-values corresponding to the 5th and 90th percentile between Greek and Canadian infants. Inter-rater reliability was excellent in our study population [ICC: 0.99 (95% CI: 0.99-0.99)]. CONCLUSION: In healthy full-term Greek infants, gross motor maturity assessed by the AIMS during the first 18 months of age, seems to follow a similar course to that of Canadian infants.

Hb Agrinio [α29(B10)Leu→Pro] is a highly unstable variant, classified as a nondeletional α-thalassemia (α-thal) mutation. To date it has only been described in individuals of Greek and Cypriot origin. Evaluation of the phenotypic presentation of 12 Hb Agrinio homozygotes or compound heterozygotes, diagnosed in a single center in Greece during a 15-year period, found a wide clinical expression, ranging from thalassemia intermedia (with or without transfusion requirement) to Hb H hydrops fetalis, with some phenotype-to-genotype correlation. The often severe clinical presentation of Hb Agrinio homozygotes or Hb Agrinio compound heterozygotes, coinheriting severe α-thal determinants, indicates that molecular identification of carriers of the Hb Agrinio mutation should be considered within the context of screening programs involving individuals of Greek and Cypriot origin. Selective molecular investigation of candidate carriers is facilitated by the observation that all heterozygotes for the Hb Agrinio mutation present with at least one hematological parameter implicating an α-thal carrier state.

AIMS: To study circulating levels and distribution of adiponectin multimers [low molecular weight (LMW)-, medium molecular weight (MMW)- and high molecular weight (HMW)-adiponectin] in preterm and full-term infants. METHODS: Total serum adiponectin and its multimers were measured in 40 healthy infants at the age of one month and associations with anthropometric parameters [body weight and length, body mass index (BMI)], weight gain and metabolic indices (glucose, insulin) were examined. Twenty of the infants were born preterm (gestational age 33.2+/-1.6 weeks). RESULTS: LMW-adiponectin level and its fractional ratio to total adiponectin were significantly higher in full-term than in preterm infants (P<0.001 and P<0.01, respectively), whereas, MMW-adiponectin level and its ratio were significantly lower (P=0.03 and P=0.01, respectively). HMW-adiponectin did not differ significantly between full-term and preterm infants and accounted for almost 60% of total adiponectin levels in both groups. HMW-adiponectin, but not MMW adiponectin or LMW adiponectin, correlated significantly with anthropometric measurements, similarly to total adiponectin; in addition, HMW adiponectin correlated significantly with weight gain. CONCLUSIONS: HMW adiponectin is the most prevalent form in infants. Circulating levels and distribution of MMW- and LMW-adiponectin differ between full-term and preterm infants, but the role of these adiponectin multimers needs to be studied further.

Intestinal obstruction in neonatal period is an emergency caused by many surgical causes. An extremely rare surgical cause in this group of age is intussusception which can be easily confused with other surgical entities. In several reports, a significant number of the infants who were included in the study population were believed to have necrotizing enterocolitis (NEC). We present a rare cause of small intestine obstruction in a preterm female infant that can be easily misdiagnosed and confused preoperatively with other clinical entities particular for this period.

Adiponectin has potent insulin-sensitizing effects, improves lipid metabolism, and potentially protects against the development of metabolic syndrome. Thus, increasing adiponectin levels in preterm infants at risk for developing metabolic syndrome may be of special interest. The aim of this study was to examine the effects of dietary long-chain polyunsaturated fatty acids (LCPUFA) on serum adiponectin and lipid concentrations in preterm infants. Adiponectin and lipid levels of 60 healthy preterm infants [gestational age 32.7 (1.9) wk] randomly assigned to be fed either 1) a formula containing LCPUFA [arachidonic and docosahexanoic] (+LCPUFA group) or 2) the same formula without LCPUFA (-LCPUFA/control group), were determined at mean (SD) 33.8 (11.7) d. Adiponectin and HDL-C concentrations were significantly higher in the +LCPUFA group than in controls (p = 0.002 and p = 0.01, respectively); whereas, triglyceride levels were lower (p = 0.06). Adiponectin correlated positively with HDL-C levels and negatively with triglyceride levels in the +LCPUFA group but not in the controls. In conclusion, circulating adiponectin concentrations were higher in preterm infants fed a formula containing LCPUFA than infants fed an LCPUFA-free formula and they correlated with lipidemic profile.

{Our study examined if dietary long-chain polyunsaturated fatty acids (LCPUFA) have an impact on oxidative stress in preterm infants. Serum malonyldialdehyde (MDA), total peroxide concentrations, and total antioxidant capacity were determined at mean (standard deviation [SD]) 34.7 (10.9) days of life in 104 healthy preterm infants (gestational age, 32.6 [2.9] weeks; birthweight; 1605 [285] g) who were randomly assigned to be fed since birth either a formula containing LCPUFA (arachidonic and docosahexaenoic) (group A

{OBJECTIVE: To determine circulating levels of adiponectin in preterm infants and examine possible associations with anthropometric measurements, weight gain, and leptin and insulin levels. DESIGN: Prospective study. SETTING: A university hospital neonatal care unit. Study population: 62 preterm (mean (SD) gestational age 32.0 (2.1) weeks) and 15 full-term infants (reference group). INTERVENTIONS: Blood samples taken at discharge (40.9 (14.8) days of life) from the preterm infants and at a comparable postnatal age in full-term infants. All infants were fed the same commercial formula, but in nine preterms the formula contained long-chain polyunsaturated fatty acids (LCPUFAs). MAIN OUTCOME MEASURES: Serum levels of adiponectin, leptin and insulin. Associations of adiponectin levels were tested only in the preterm group. RESULTS: Serum levels of adiponectin were lower in preterm (40.9 (14.8) microg/ml) than full-term infants (53.1 (16.0) microg/ml, p<0.01). However, after adjustment for body weight, the influence of prematurity on adiponectin levels was no longer significant. In preterm infants, adiponectin levels independently correlated with being born small for gestational age (SGA) (beta=-0.35

The gut hormone peptide YY 3-36 [PYY (3-36)] has been suggested to posses anorexigenic actions in animals and human adults. However, its circulating concentrations and function have not been studied in neonates. Serum concentrations of PYY (3-36) were determined by RIA (RIA) in 62 healthy preterm infants [mean(SD) gestational age, 32.0(2.1) weeks; postnatal age, 40.9(14.8 d)] and 15 healthy fullterm infants of comparable postnatal age and gender. The correlations between PYY (3-36) levels and anthropometric characteristics, food intake, growth rates and circulating concentrations of total PYY, ghrelin, leptin, insulin and adiponectin were examined. Mean (SD) PYY (3-36) concentrations were higher in preterm [543.7(157.6) ng/L) than full term infants [350.9(114.1) ng/L; p < 0.001) and accounted for 48% and 42% of total PYY basal plasma immunoreactivity in preterm and full term infants, respectively. In multiple regression analysis, PYY (3-36) concentrations correlated negatively with the infants’ BMI and positively with serum ghrelin concentrations, but not with caloric intake, weight gain or concentrations of any other hormone studied. In conclusion, PYY (3-36) represents almost half of total PYY immunoreactivity in neonates. It’s correlations with ghrelin and BMI suggest a role of this peptide in the regulation of energy homeostasis; however, its specific functions and physiologic significance in neonates remain to be elucidated.

The central nervous system is often affected in patients with congenital toxoplasmosis. However, hypothalamo-pituitary dysfunction has rarely been reported in children with congenital toxoplasmosis, and no case with prolonged fever of central origin has been documented so far. We describe a newborn with congenital toxoplasmosis who presented with fever due to hypothalamo-pituitary dysregulation and combined hypothalamo-pituitary deficiencies consisting of central diabetes insipidus, hypothyroidism and ACTH deficiency.

Subcutaneous fat necrosis (SFN) of the newborn is an uncommon disorder of the adipose tissue, mostly affecting full-term or post-term newborns who experience perinatal distress. The lesions of SFN typically occur during the first six weeks of life; they are usually self-limited and no specific therapy is required. The disorder may be rarely complicated with hypercalcaemia. We present the case of a neonate with perinatal asphyxia who manifested SFN followed by hypocalcaemia instead of hypercalcaemia and a biochemical profile of pseudohypoparathyroidism four weeks after the eruption of skin lesions. The infant was treated with alfacalcidiol. Blood biochemistry was normalized within one week and serum parathyroid hormone levels declined to normal over the next two months. It is suggested that perinatal asphyxia was the common etiopathogenetic factor for the development of both SFN and pseudohypoparathyroidism.

BACKGROUND: Peptide YY (PYY) and ghrelin are gastrointestinal tract-derived hormones that play roles in the regulation of food intake and energy balance. Negative energy balance often occurs in hospitalized preterm infants. METHODS: To measure serum concentrations of PYY in preterm and full-term infants and to investigate their correlations with anthropometric characteristics, food intake, and serum ghrelin concentrations, we measured serum PYY and ghrelin concentrations by RIA in 62 healthy preterm infants [mean (SD) gestational age, 32.0 (2.1) weeks; postnatal age, 40.9 (14.8) days] and 15 healthy full-term infants of comparable postnatal age. All of the infants were formula-fed every 3 h. RESULTS: PYY concentrations were significantly higher in preterm [1126.2 (215.4) ng/L] than in full-term infants [825.3 (234.4) ng/L; P < 0.001]. In the entire study population, serum PYY concentrations correlated negatively with gestational age and anthropometric measurements (birth weight, body weight, body length, body mass index, and head circumference) and positively with serum ghrelin concentrations, whereas there was no significant correlation between PYY concentration and caloric intake or weight gain. Multiple regression analysis, after correction for prematurity, revealed that serum PYY concentrations correlated independently with serum ghrelin concentrations and infant body weight or body mass index. CONCLUSIONS: Circulating concentrations of PYY may increase in preterm infants to compensate for the negative body-weight balance. The physiologic mechanisms behind the correlation between PYY and ghrelin remain to be elucidated.

UNLABELLED: Abnormal glucose tolerance is a frequent late complication of cystic fibrosis (CF), but the prevalence of CF-related diabetes mellitus (CFRD) in children less than 10 y old is less than 2%. The youngest child with CFRD reported to date was 6 mo of age. Insulinopenia is the primary cause of abnormal glucose tolerance/CFRD, but it is unknown whether it may begin in the neonatal period. We describe a case of a neonate with CF who presented with hyperglycaemia in the diabetic range and marked insulinopenia. Insulinopenia and impaired glucose tolerance were permanent findings at 6 and 15 mo of age. CONCLUSION: This case suggests that abnormal glucose tolerance/diabetes may occur much earlier in the course of CF, even during neonatal age. Careful follow-up and further studies in CF infants could reveal that the real incidence of glucose intolerance and diabetes in this age group has been underestimated.

BACKGROUND: The effect of dietary nucleotides on lipid metabolism has been the subject of clinical studies with conflicting results. We measured serum triglycerides, total cholesterol (total-C), and lipoprotein cholesterol levels (HDL-C, LDL-C, and VLDL-C) in preterm neonates fed formula with and without nucleotide supplements. METHODS: This prospective, randomized, controlled study included 150 healthy preterm neonates (gestational age, 33.0 +/- 1.9 weeks) matched for gestational age, birth weight, and gender. Subjects were assigned at birth to receive either a standard milk formula supplemented with nucleotides (group F-NT) or the same formula without nucleotides (group F). Serum was obtained before discharge (29.1 +/- 10.0 days of life) and triglycerides, total-C, and HDL-C were determined enzymatically. LDL-C and VLDL-C were estimated by the Friedewald formula. For statistical analysis t test, Mann Whitney-U test, two-way ANOVA, and chi2 test were used, as appropriate. The influence of several factors on serum lipid levels was evaluated by linear regression analysis. RESULTS: Serum triglycerides, total-C, and VLDL-C levels did not differ between groups. HDL-C levels (median; 25th-75th percentiles) were significantly higher (P < 0.001) in group F-NT (48.0 mg/dL; 40.5-57.0 mg/dL) than in group F (34.5 mg/dL; 27.2-44.0 mg/dL). On the contrary, LDL-C levels (median; 25th-75th percentiles) were significantly lower (P < 0.001) in group F-NT (39.0 mg/dL; 26.0-54.0 mg/dL) than in group F (65.0 mg/dL; 41.0-73.0 mg/dL). In the multiple regression analysis, nucleotide supplementation was identified as one of the controlled independent factors influencing serum HDL-C and LDL-C levels. CONCLUSIONS: Preterm neonates fed from birth with formula supplemented with nucleotides have significantly higher HDL-C and lower LDL-C serum levels than do neonates fed unsupplemented formula. The clinical relevance of these results remains to be elucidated.

UNLABELLED: Two infants with recurrence of herpes simplex virus (HSV) encephalitis are reported. Both patients developed HSV encephalitis during their neonatal period and were treated with iv acyclovir. Long-term oral acyclovir prophylaxis was given thereafter. At the age of 8 and 11 months respectively, both babies, while under oral acyclovir prophylaxis, presented a second episode of HSV encephalitis. An inadequate dose of suppressive oral acyclovir therapy may be responsible for the recurrence of encephalitis in these two babies. CONCLUSION: The present observations emphasise the need for very long follow-up of any infant who has suffered from neonatal herpes simplex virus encephalitis and the need for careful prospective controlled studies in order to define the appropriate treatment regimen (initial plus prophylaxis) for neonates with herpes simplex virus infections.

UNLABELLED: Plasma immunoreactive endothelin levels were determined in 31 children and adolescents with cystic fibrosis and it was examined whether these levels correlated with the severity of the disease. The study comprised 16 cystic fibrosis patients (mean (SD) age 13.0 (4.9) y) with impaired lung function (Group A), 15 cystic fibrosis patients (11.2 (5.5) y) with unimpaired lung function (Group B) and 28 healthy controls (10.6 (4.3) y) (Group C). The selection and classification of patients into groups was based on criteria including the grade of finger-clubbing, the Brasfield chest radiograph score and spirometric and arterial blood gas values. In all subjects, plasma immunoreactive endothelin, atrial natriuretic peptide, renin, serum aldosterone levels and serum and urine electrolytes were measured. CONCLUSIONS: Plasma endothelin levels were significantly higher in Group A (range 2.5-8.4 pg/ml, median 3.2 pg/ml) than those in Group B (1.3-3.8 pg/ml, median 2.0 pg/ml, p < 0.001) and Group C (1.5-3.5 pg/ml, median 2.5 pg/ml, p < 0.001), whereas they did not differ between groups B and C. They correlated positively with the severity of finger-clubbing, heart rate, arterial blood PCO2, plasma atrial natriuretic peptide levels and serum aldosterone levels and negatively with the arterial blood PO2, forced vital capacity (FVC), forced expiratory volume in 1 sec (FEV1) and the Brasfield chest radiograph score. In multivariate regression analysis PO2 was the only independent factor found to significantly affect plasma endothelin levels. In conclusion, plasma immunoreactive endothelin levels are increased in cystic fibrosis patients with impaired pulmonary function and are related to the severity of the disease.