Massimo Mazzella

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural‐pulmonary involvement of this generalized lymph vessel malformation syndrome.

Reliability assessment of glucose measurement by HemoCue analyser in a neonatal intensive care unit.

BACKGROUND Rapid and reliable bed-side determination of blood glucose concentration is very important in the management of acutely ill infants and especially in premature newborns. HemoCue is an easy-to-use glucose analyser. The aim of the present study was to examine the usefulness of the HemoCue glucose analyser compared to a reference plasma glucose method (SYS, BM/Hitachi 747/737) in a neonatal intensive care unit (NICU). METHODS Seventy-eight consecutive neonates admitted to our NICU were enrolled in the study. At the time of the study all patients were grouped according to nutritional management (parenteral or enteral nutrition), haematocrit values and birth weight. The effects of feeding management, haematocrit values, and birth weight on accuracy and precision of the device were evaluated. RESULTS Overall data linear regression analysis yielded an r-value of 0.905 and the Bland-Altman method demonstrated that HemoCue overestimates plasma glucose by 0.932 mmol/L. Evaluation of our data by receiver operating characteristic curve demonstrated 100% sensitivity cutoff at 4.1 mmol/L. CONCLUSIONS HemoCue cannot be used satisfactorily in the management of glycaemia in the NICU. In the preterm population, birth weight had a dramatic influence on HemoCue accuracy. Low haematocrit and parenteral feeding further contributed to a decrease in the accuracy of this device.

Lymphoscintigraphic evaluation of congenital lymphedema of the newborn

The authors present a case of the Hennekam syndrome diagnosed in a newborn. Lymphedema is usually present in this syndrome, and the lymphoscintigraphic imaging findings for its detection are discussed. This case confirms the utility of lymphoscintigraphy in providing important physiologic and anatomic information for presurgical planning. An etiologic diagnosis could possibly be obtained. The procedure is relatively easy to perform, safe, reliable, minimally invasive, and not uncomfortable for the patient. It should be considered a valuable diagnostic tool, especially in newborns, in whom conventional contrast lymphoangiography is difficult to perform.

Incidence of Type I Diabetes in the Liguria Region, Italy: Results of a prospective study in a 0- to 14-year age-group

OBJECTIVE To assess updated incidence of insulin-dependent diabetes mellitus (IDDM) in 0- to 14-year-old children in Liguria, a northwest region of Italy. RESEARCH DESIGN AND METHODS Incident cases were recorded prospectively from 1987 to 1991. Incidence rates (IRs) were directly standardized on the basis of the 1990 world population. The independent effect of age, sex, residence, and calendar year was estimated with a Poisson regression model. The degree of ascertainment was calculated in accordance with the capture/recapture method. RESULTS During 5 full calendar years, 117 new cases of IDDM in children were diagnosed in Liguria. The standardized IR over the 5-year period was 11.72 cases·100,000−1·year−1. The sex-specific IR among males and females was 11.45 and 12.01, respectively. The age-specific IR was higher in the 5–9 age-group. CONCLUSIONS The IR of IDDM in Liguria is among the highest in southern Europe and approaches that of northern European countries. In particular, it is much higher than those reported in the surrounding Italian regions, except for Sardinia. Therefore, the geographical distribution of IDDM does not seem to reflect the simple north-south gradient reported in several previous studies.

Pulmonary interstitial emphysema in preterm twins on continuous positive airway pressure.

Unilateral pulmonary interstitial emphysema (uPIE) is a well-known condition that is usually observed as a complication in infants who undergo mechanical ventilation (MV). It is rather unusual for uPIE to occur during nasal continuous positive airway pressure (n-CPAP) [1]. We report herein preterm twins with uPIE on n-CPAP who were successfully managed by a conservative approach. Female, monochorionic twins were born at 31 weeks of gestation to a 28-year-old mother by cesarean section following premature rupture of the membranes. A course of betamethasone had been administered to the mother one week prior to delivery. Case 1 Apgar scores were 5 and 9 at 1 and 5 minutes, respectively. Mild tachydyspnea at birth was treated by n-CPAP (3 cmH2O) in the delivery room. Birth weight was 1200 g (510 centile), length was 36 cm (510 centile), and head circumference was 26.5 cm (10 centile). Due to persisting mild respiratory distress, n-CPAP (Infant Flow Driver, Electro Medical Equipment Ltd, Brighton, UK) was continued (FiO2 0.30; 4 cmH2O), with stable and satisfactory gas values during the first 24 hours. Echocardiography showed a patent ductus arteriosus, which was successfully treated with ibuprofen. A chest radiograph was taken at 24 hours of age and showed interstitial emphysema involving the left lung with herniation across the midline and a rightward shift of the mediastinum compressing the quite normal appearing right lung (Figure 1, panel A). The patient’s O2 dependency concomitantly worsened up to 0.5, and there was a mild increase in tachydyspnea. Radiography was again performed 2 hours later and showed that the lesions were gradually enlarging and were associated with a progressive worsening of the mediastinal shift to the right. A few hours later, severe respiratory deterioration abruptly occurred and an X-ray showed left pneumothorax (Figure 1, panel B). The infant was placed on MV and a chest tube was inserted into the left hemithorax. Antibiotic therapy was also started. Due to the evidence of uPIE, the patient was selectively intubated in the right mainstem bronchus and was positioned left side-down. An X-ray taken 8 hours later showed a substantial improvement in the affected lung (Figure 1, panel C). Twenty-four hours later the uPIE had almost completely resolved. At 5 days of age the chest drainage tube was removed and she was extubated (Figure 1, panel D). Case 2 Apgar scores were 5 and 8 at 1 and 5 minutes, respectively. Mild tachydyspnea at birth was treated by n-CPAP (3 cmH2O) in the delivery room. Birth weight was 1170 g (510 centile), length was 36 cm (510 centile), and head circumference was 24.5 cm (510 centile). Early respiratory distress syndrome (RDS) was treated in the neonatal intensive care unit (NICU) by n-CPAP (FiO2 0.3; 4 cmH2O) (Infant Flow Driver, Electro Medical Equipment Ltd, Brighton, UK). Clinical status remained stable over the next 36 hours. Echocardiography showed a patent ductus arteriosus, which was successfully treated with ibuprofen. On account of an increase in oxygen requirement (FiO2 up to 0.5), a slight worsening of tachypnea, and slow, progressive deterioration of blood gases, we took a chest X-ray at 36 hours of age, which revealed marked left interstitial emphysema with mediastinal shift to the right, while mild antero-lateral The Journal of Maternal-Fetal and Neonatal Medicine, October 2006; 19(10): 671–673

Autoimmune Thyroiditis In IDDM Patients

We have read with interest the article by McKenna et al. in the July 1990 issue of Diabetes Care(1). We report here the results of a study that we recently conducted, reaching conclusions similar to those contained in the article by McKenna et al. Thyroid autoantibodies were detected by indirect immunofluorescence on rat tissue sections. Among the patients who were autoantibody positive, 34 subjects showed a normal thyroid function (triiodothyronine and thyroxine [T3 and T4], thyroidstimulating hormone [TSH] in the normal range at baseline, normal TSH response to thyrotropin-releasing hormone [TRH] stimulus). Four patients had compensed hypothyroidism (high TSH levels both at baseline and after TRH stimulus, with normal T3 and T4 levels). In the latter group, we observed a 9-yr-old girl with autoantibody positivity (thyroglobulin antigen [TGA] and microsomal antigen [MCA]) who, within 5 mo from the detection of thyroid autoantibodies, developed thyroid dysfunction that progressed to overt hypothyroidism and goiter (Table 1). Based on our experience, we suggest that patients with insulin-dependent diabetes mellitus (IDDM) with thyroid autoantibody positivity undergo frequent assessments of thyroid function. IDDM patients should be evaluated for serum TSH levels at least at 6-mo intervals, considering their high risk to develop clinical hypothyroidism.

Reliability assessment of glucose measurement by HemoCue analyzer in a neonatal intensive care unit: Reply to Dr. Joakim Hagvik

Carlo Bellini*, Giovanni Serra, Domenico Risso, Massimo Mazzella and Eugenio Bonioli 1 Servizio di Patologia Neonatale, Dipartimento di Scienze Pediatriche, Università di Genova, Istituto G. Gaslini, Genova, Italy 2 Dipartimento di Scienze della Salute, Sezione di Biostatistica, Università di Genova, Genova, Italy 3 Dipartimento di Scienze Pediatriche Università di Genova, Istituto G. Gaslini, Genova, Italy

Lack of effect of dietary nucleotide supplementation on erythrocyte 2,3-diphosphoglycerate concentration. A study on preterm neonates

Background. Recently we demonstrated an increased 2,3-diphosphoglycerate (2,3-DPG) erythrocyte concentration in rat pups subjected to nucleotide-enriched artificial feeding. Design. The present study was carried out to test the hypothesis that a possible increase in 2,3-DPG concentration can also be obtained in human neonates who are fed nucleotide-enriched formula. Preterm neonates born or referred to the neonatal intensive care unit of the G. Gaslini Hospital, Genoa University, with a gestational age >30 weeks and <37 weeks were enrolled in our randomized trial. Recruitment took place within 48–72 hours from birth. Only newborns of mothers deciding not to breast-feed were eligible to be randomized for the supplemented group (FN) or non-supplemented group (RF). Breast-fed newborns were considered the control group (C). The study window (for supplementation and blood samples) was restricted to the first two weeks following birth (from the 2nd (t1) to the 16th (t2) day of life). At the end of our study, only 21 neonates were eligible for statistical analysis. Results. The stimulating action of dietary nucleotides on 2,3-DPG concentration failed to be demonstrated; increases in 2,3-DPG concentration that were observed in newborns fed with nucleotide supplemented formula (FN) were comparable to those observed in newborns fed with regular formula (RF) and breast-fed newborns. Conclusions. The EC recommendation for the amount of nucleotides allowed in formula milk does not seem to be high enough to have positive effects on 2,3-DPG synthesis. Whether this possible ‘pharmacological’ effect can be achieved by a higher intake of ingested nucleotides and/or a change in the proportions of single nucleotides contained in milk formulas remain interesting end points to be elucidated.