Selective intrauterine growth restriction in monochorionic twins: changing patterns in umbilical artery Doppler flow and outcomes.

OBJECTIVES: To describe changes in umbilical artery (UA) Doppler flow in monochorionic diamniotic (MCDA) twins affected by selective intrauterine growth restriction (sIUGR), to correlate Doppler findings with pregnancy course and perinatal outcome, and to report postnatal follow-up. METHODS: This was a retrospective study of 140 MCDA twins with sIUGR. UA end-diastolic flow, defined as Doppler waveform pattern Type I (persistently positive), Type II (persistently absent or persistently reversed) or Type III (intermittently absent or intermittently reversed), was recorded at first examination and monitored weekly until double or single intrauterine fetal death (IUFD), bipolar cord coagulation or delivery. All neonates had an early neonatal brain scan, magnetic resonance imaging, when indicated, and neurological assessment during infancy. Rates (per 100 person-weeks) and hazard ratios (HR) of IUFD in the IUGR twin in each pregnancy were calculated considering UA Doppler pattern as a time-dependent variable. RESULTS: At first examination, there were 65 cases with UA Doppler waveform pattern Type I, 62 with Type II and 13 with Type III. Of the 65 Type-I cases, 48 (74%) remained stable, while 17 (26%) changed to either Type II absent (14%), Type II reversed (9%) or Type III (3%). Of 62 Type-II cases (47 with absent and 15 with reversed flow), 33 (53%) remained stable (18 with absent and all 15 with reversed flow). The 29 Type-II absent cases which changed became Type II reversed (24/47, 51%) or Type III (5/47, 11%). All 13 Type-III cases remained stable. Compared with Type I, the risk of IUFD (adjusted for estimated fetal weight discordance and amniotic fluid deepest vertical pocket) was highest when the pregnancy was or became Type II reversed (HR, 9.5; 95% CI, 2.7-32.7) or Type II absent (HR, 4.3; 95% CI, 1.3-14.3). Mild neurological impairment was more prevalent in the IUGR twin than in the large cotwin (7% vs 1%, P = 0.02). CONCLUSIONS: Risk stratification based on UA Doppler is useful for planning ultrasound surveillance. However, patterns can change over time, with important consequences for management and outcome. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

BACKGROUND: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or adult) and severity. OBJECTIVE: To identify the molecular bases of different neuromuscular forms of GSD-IV and to establish possible genotype/phenotype correlations. METHODS: Eight patients with GBE deficiency had different neuromuscular presentations: three had fetal akinesia deformation sequence (FADS), three had congenital myopathy, one had juvenile myopathy, and one had combined myopathic and hepatic features. In all patients, the promoter and the entire coding region of the GBE gene at the RNA and genomic level were sequenced. RESULTS: Nine novel mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. The three cases with FADS were homozygous, whereas all other cases were compound heterozygotes. CONCLUSIONS: This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.

[QTc interval in newborns with gastroesophageal reflux treated with cisapride and ranitidine]. / Intervallo QTc in neonati con reflusso gastroesofageo (RGE) in terapia con cisapride e ranitidina.

Gastroesophageal reflux (GER) is very common in infants, especially in prematures and may be cause of gastrointestinal and cardiorespiratory symptoms. Cisapride, a prokinetic agent, is used in order to avoid the transient esophageal sphincter relaxation, but it is sometimes associated to transient prolongation of QT interval on EKG, especially with high dosage. The authors report the effects of cisapride therapy (0.8 mg/Kg/day) on QTc interval (QTc = QT interval corrected on heart frequency) in a pediatric population (50 infants) with GER. Results demonstrate the relatively safety of cisapride therapy at low dose also in the pediatric period.

[Urokinase in a premature infant: its use in a case of right atrial thrombosis secondary to catheterization of the umbilical vein]. / Urochinasi nel prematuro: utilizzo in un caso di trombosi atrial destra secondaria a cateterizzazione della vena ombelicale.

Newborns with vascular catheters must be investigated by echocardiogram for intracardiac thrombosis. We report the use of urokinase to treat an asymptomatic right atrial thrombus in a 31 weeks' gestation newborn; the thrombosis occurred after placement of a catheter in the umbilical vein. We obtained a safe and successful thrombolysis using urokinase 4000 U/kg/h in continuous infusion.

[Cough and vomiting association in an infant: where does the vicious circle start?]. / Associazione tosse/vomito in un lattante: dove inizia il circolo vizioso?

The Authors describe the clinical history and diagnostical problems of a premature twin with the three classical symptoms cough-vomiting-growth retardation in the first year of life. Is the diagnostic route required to stabilize whether this condition is primarily gastroenterological or pulmonary?

[Risk of bronchopulmonary dysplasia: the importance of diuresis]. / Rischio di displasia broncopolmonare: importanza della diuresi.

13 preterm infants (gestational age 34 weeks or below; birth weight under 1500 g.) with severe respiratory distress, were admitted for intensive care in our Unit between 1980 and 1981. Factors affecting the onset of BPD (bronchopulmonary dysplasia) in these subjects are evaluated by retrospective studies. Diuresis in the third day of life, expressed as a percentage of administered fluids appeared particularly significant. It resulted significantly lower in subjects developing BPD than in non-affected controls. Therefore, along with a PDA and a high fluid input favouring interstitial oedem, the inability of preterm infants to remove fluid overload must be considered. A reduced clearance of interstitial fluid in the lung enhances circulatory status and ventilatory damage and increases the risk of BPD.