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Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described., (Copyright 2009 Wiley-Liss, Inc.)

Aim: Primary gastrointestinal perforations have an incidence of between 1% and 3% in NICU patients. The 3 Centers participating in this study cover nearly 40% of the NICU population of the Lazio Region--Italy. The aim of this study is to discuss factors affecting survival in patients affected by a primary intestinal perforation., Methods: From 1991 to 2001, 67 cases of 85 with a neonatal gastrointestinal perforation, were related to primary bowel lesions. Necrotizing enterocolitis (NEC) was not always the cause of perforation and in many patients an isolated bowel lesion without signs of NEC was found. The aim of this study was to examine clinical and intraoperative findings of NEC and non NEC perforations and their impact on survival. A relevant number of these patients were extremely low-birth weight (ELBW). Controversies about treatment of this category of neonates are discussed., Results: Patients were 37 males and 30 females (mean birth weight 1 274.8 g, mean gestational age 28.9 weeks, mean age at perforation 10 days). Overall survival was 56.8%. Patients were divided by intraoperative findings in 2 groups: NEC (n=48), or isolated intestinal perforation (IIP) without signs of NEC (n=19). Differences between these 2 groups with regard to birth weight, maturity, associated cardiac anomalies (patent ductus arteriosus, PDA) were significant. NEC and IIP behaved as 2 distinct entities, each with peculiar clinical (age at perforation, oral feeding, need of ventilatory support) and radiological aspects. At surgery, multiple lesion on necrotic bowel were typical of NEC versus single, isolated perforations on healthy bowel typical of IIP. Overall survival was almost identical in the 2 groups (59% vs 58%). ELBW patients (55% of the total neonatal intestinal perforations) were also studied. There were 21 patients with NEC and 16 with IIP. The 2 groups were different in age at perforation, previous oral feeding and associated cardiac anomalies (PDA). Overall survival was 62% for NEC and 50% for IIP. A laparotomy was always performed. Temporary peritoneal drainage was done in 4 cases only. Results were better when intestinal diversion was performed rather than resection and primary anastomosis. Almost all NEC patients had multiple perforations and extended bowel necrosis., Conclusion: NEC is the most frequent cause of neonatal intestinal perforation. This is a quite distinct entity from IIP, which must always be differentiated preoperatively and which is most frequently found among low birth weight newborns. As far as surgical treatment of perforation among ELBW neonates is concerned, peritoneal drainage might be reasonably performed when a single lesion on healthy bowel as in IIP is clearly diagnosed but it could be inadequate for NEC patients.

Objectives: Over the last 10 years, diffusion of assisted reproduction techniques (ovarian stimulation, IVF, GIFT) has led to an increased incidence of multiple pregnancies and consequently, of the related obstetric-neonatal problems. In this study, multiple births have been studied, with particular reference to the twin births occurring in the Gemelli hospital, Rome. The hospital is also a reference centre for obstetric pathologies and infertility treatment. In particular, attention has been focused on neonatal outcome, comparing twins born from spontaneous and assisted pregnancies., Study Design: 228 neonates from spontaneous twin pregnancies and 32 from assisted twin pregnancies were taken into consideration with regard to: premature birth, low birth-weight, intrauterine growth retardation, weight discordance, Apgar score, major neonatal diseases, and mortality., Results: Results showed a significant higher incidence of prematurity and low birth-weight, as well as a significant lower gestational age, occurring more frequently in twins resulting from assisted pregnancies than in twins from spontaneous pregnancies. Furthermore, the incidence of severe depression at birth and respiratory disease was significantly higher in twins from assisted pregnancies than in those from spontaneous pregnancies, despite similar gestational age and birth-weight.

Introduction: The value of a systematic radiologic analysis in constitutional osteochondrodysplasias remains underestimated by both neonatologists and radiologists. We report the clinical experience of the Department of Neonatology and Neonatal Intensive Care Unit of St. John Hospital in Rome with constitutional osteochondrodysplasias identifiable at birth., Material and Methods: We reviewed 2120 cases of newborns hospitalized in our unit from January 1996 to August 1998 and here submitted to at least one direct radiograph of chest and abdomen (the so-called "babygram"). All the newborns were clinically assisted by the same three neonatologists and radiologically followed by the only pediatric radiologist, the external consultant for diagnostic imaging of the Intensive Care Unit of the Neonatology Department., Results, Discussion and Conclusions: We diagnosed 14 cases of constitutional osteochondrodysplasias (.66%): 4 of them (28.27%) belong to the group considered by the European Society of Pediatric Radiology (ESPR) as lethal before or immediately after birth, while the other 10 (71.43%) belong to different groups of the ESPR classification. Thus, we arbitrarily grouped them into a single pathologic condition, based on their two main features: being generally not lethal and always or very often identifiable at birth. These 10 cases were: 1 campomelic dysplasia, 3 achondroplasias, 2 asphyxiant thoracic dysplasias type Jeune, 1 cherubinic dysplasia, 2 osteogenesis imperfectae, 1 osteopetrosis. We justify the relatively high incidence of constitutional osteochondrodysplasias in our study (.66% versus an average incidence of .076% reported in the world population) on the basis of: a) an increasing number of high-risk newborns in our intensive care unit; b) an improvement in our clinical and radiologic diagnostic skills. We conclude that the state of the art of the diagnosis of constitutional osteochondrodysplasias is still based on the first plain X-ray examination performed at birth because of cardiorespiratory and/or abdominal diseases in the newborn.

The authors report their experience in the Division of Neonatology of the Catholic University of Rome about the choice of milk alimentation and mineral and vitamin supplementation before discharge and during the subsequent follow-up, with particular reference to very low-birthweight preterm infants (< 1500 g). Basing on empirical experiences, the authors emphasize the importance in current practice of post-conceptional age, with special regard to the kind of milk to choose after discharge and the time and terms of the weaning. Furthermore they stress nutritional, immuno-allergic and psychological advantages of human milk before and after hospital discharge, particularly related to the presence of long-chain polyunsaturated fatty acid (LCP), recently known to be essential on retina and brain development in the preterm infant. When breast milk is not available, the authors confirm the efficacy, before discharge, of preterm infant formulas and subsequently of infant formulas and after of follow-up formulas. The authors hope that the directions proposed by the American Academy of Pediatrics in 1983 will be modified in order to recommend cow-milk only after the first year of life of the infant. They finally suggest specific mineral and vitamin supplementations (iron, calcium, phosphorus, fluoride; vitamins K, D, E and folic acid), to be started after hospital discharge.

Fetal hypoxic-ischemic encephalopathy can be diagnosed at birth by means of cerebral ultrasound scanning. The morphological appearance of the lesions depends on the time elapsed between the insult and examination of the brain. We report a case of a neonate affected by multicystic encephalomalacia and corpus callosum atrophy attributable to an episode of maternal anaphylactic shock which occurred at 27 weeks of gestation following intravenous iron injection. The diagnosis was made by means of a cerebral ultrasound scan performed at birth and confirmed by magnetic resonance. This case demonstrates that maternal severe acute hypotension during pregnancy can cause fetal cerebral damage similar to the hypoxicischemic injuries occurring in the perinatal period.

To verify in the preterm newborn the hypothesis, recently proposed by some authors, of an hepatosynthetic deficiency, blood fibrinogen (FIB), prothrombin time (PT) and albumin (ALB) levels at birth were studied in 44 neonates, selected to obtain 4 groups of the same number and gestational age, different only for the presence of intrauterine growth retard and preeclampsia during pregnancy. In the newborns born of preeclamptic pregnancies, FIB, PT and ALB blood levels at birth resulted lower, but not significantly, than in those born of normal pregnancies; in SGA newborns the values (except for albumin) resulted significantly lower than in AGA newborns (FIB = 168 +/- 63 mg/dl vs 223 +/- 55 mg/dl; p < 0.01; PT = 51 +/- 15% vs 71 +/- 19%; p < 0.001). Besides, PT values resulted significantly lower (p < 0.01), in presence of normal pregnancy, in SGA than in AGA newborns, while FIB values resulted significantly lower (p < 0.01), in presence of preeclampsia, in SGA than in AGA newborns. It seems that, in preterm newborn, the intrauterine growth retard, rather than preeclampsia, would condition lower blood levels of the examined seric proteins. These results could be explained by hypothesizing, in the SGA preterm newborn, 3 possible etiopathogenetic mechanisms: 1) increased turnover of hepatosynthetized seric proteins, such as albumin; 2) deficiency of liver enzymes involved in proteic synthesis, already demonstrated for some coagulation factors; 3) diminished amino acidic substratum, necessary for proteic hepatosynthesis, caused by poor amino acidic passage through placenta, possible in presence of intrauterine growth retard. This would probably be the most important mechanism in causing low levels of the examined seric proteins.