Unplanned ultrasound-guided puncture of a tracheal balloon in a premature infant with congenital diaphragmatic hernia.

Temporary tracheal balloons have been shown to improve lung growth in fetuses with severe congenital diaphragmatic hernia. Fetoscopic Endoluminal Tracheal Occlusion (FETO) is performed at 26-28 weeks gestation, and then is removed in utero at 34 weeks gestation at highly specialized centers. In case of preterm labor at a hospital without a specialized team, a number of techniques have been used to remove the balloon, sometimes with death of the newborn. We have successfully performed an ultrasound-guided approach to puncture and remove the tracheal balloon in a premature infant in an emergency setting at birth. After that she was treated for congenital diaphragmatic hernia at our Newborn Intensive Care Unit.

[Epignathus, hypolastic left heart syndrome, and trisomy 18 in a small for gestational age female twin]. / Epignato, sindrome del cuore sinistro ipoplasico e trisomia 18 in una gemella piccola per età gestazionale.

We describe a rare association of hypoplastic left heart syndrome, trismony 18, and epignathus in a 970 g female twin born at 37 weeks of gestational age. She died at 24 hours of age. Neonatologists and obstetricians should be aware of this rare association for a thorough prenatal counselling.

Epoprostenol for very low birth weight (VLBW) infants: a novel dilution protocol.

Epoprostenol has been the first effective treatment for severe pulmonary arterial hypertension. Epoprostenol is provided in vials for adult therapy. To our knowledge there are no reports on specific dilution protocols for epoprostenol in VLBW infants, when very small infusion rates are required. We describe the dilution protocol we applied to a preterm infant who was born at 30 weeks of gestational age with a weight of 1.000 g. Our dilution protocol keeps the recommended dilution ratios, and the required solution pH, for very small dosages of epoprostenol, using the same diluent vial. Our method allows a correct and safe administration of epoprostenol in VLBW infants.

Comparison of times of intervention during pediatric CPR maneuvers using ABC and CAB sequences: a randomized trial.

BACKGROUND: The proposed introduction of the CAB (circulation, airway, breathing) sequence for cardiopulmonary resuscitation has raised some perplexity within the pediatric community. We designed a randomized trial intended to verify if and how much timing of intervention in pediatric cardiopulmonary resuscitation is affected by the use of the CAB vs. the ABC (airway, breathing, circulation) sequence. PATIENTS AND METHODS: 340 volunteers, paired into 170 two-person teams, performed 2-rescuer healthcare provider BLS with both a CAB and ABC sequence. Their performances were audio-video recorded and times of intervention in the two scenarios, cardiac and respiratory arrest, were monitored. RESULTS: The CAB sequence compared to ABC prompts quicker recognition of respiratory (CAB vs. ABC=17.48 ± 2.19 vs. 19.17 ± 2.38s; p<0.05) or cardiac arrest (CAB vs. ABC=17.48 ± 2.19 vs. 41.67 ± 4.95; p<0.05) and faster start of ventilatory maneuvers (CAB vs. ABC=19.13 ± 1.47s vs. 22.66 ± 3.07; p<0.05) or chest compressions (CAB vs. ABC=19.27 ± 2.64 vs. 43.40 ± 5.036; p<0.05). CONCLUSIONS: Compared to ABC the CAB sequence prompts shorter time of intervention both in diagnosing respiratory or cardiac arrest and in starting ventilation or chest compression. However, this does not necessarily entail prompter resumption of spontaneous circulation and significant reduction of neurological sequelae, an issue that requires further studies.

Toilet training started during the first year of life: a report on elimination signals, stool toileting refusal and completion age.

AIM: The aim of this study was to examine an international population of children who started toilet training in the first year of life. METHODS: Two hundred eighty-six participants completed an anonymous questionnaire. Main outcomes variables were: presence of elimination signals (ES), elimination pattern consistency (EPC), stool toileting refusal (STR), and toilet training completion age. The analysis included the differences in completion age regarding each of the following variables: start age range, presence of ES, EPC, STR and country of residency for those who completed either bowel or bladder training at the time of survey completion. RESULTS: Over 90% of the respondents reported that their children showed ES. STR was nearly 12%. For those who completed toilet training at the time of survey completion mean completion ages for daytime dryness and bowel control were 17.4 and 15.0 months, respectively; those who initiated toilet training during the first 6 months completed training earlier than those who started later; those who showed STR at the beginning of training completed bowel training later than those who did not (P<0.001); those who exhibited ES for voiding or bowel movements completed day-dryness and bowel training earlier than those who did not (P<0.001). Among countries of residency, those children who resided in the USA and Canada completed bowel training the earliest (P<0.001). CONCLUSION: This is the first report which provides data on the current infant toilet training method, which is based mainly on ES and patterns, and practiced by motivated caregivers. Notable side effects were not observed.

Assisted infant toilet training: is it time for a critical revision?

Toilet training is an essential issue in child education, and its completion represents a developmental milestone. Although for the last 40 years the Western medical community has recommended to start toilet training after 18 months of age, today a growing number of parents are accepting assistant infant toilet training that can begin relatively soon after birth. As currently practiced, assisted infant toilet training emphasizes infant-caregiver communication for the gradual acquisition of bowel and bladder control. Signals emitted by the infant lead the caregiver during elimination assistance. This review will help the reader to understand this new phenomenon.

Intrauterine depressed skull fracture with spontaneous resolution.

We describe a full term male infant born by cesarean section, who presented a deep round depression of the left parietal bone at birth. MRI scan showed no signal alteration on cortical and sub-cortical level in correspondence of the depressed skull fracture. At four months of age, a skull X-ray was normal. At 18 months of age growth and neurologic follow-up is normal.

Necrotizing enterocolitis in a 850 gram infant receiving sorbitol-free sodium polystyrene sulfonate (Kayexalate): clinical and histopathologic findings.

We report a 27-week, 850 g infant with severe Streptococcus group B sepsis and life-threatening hyperkalemia due to progressive anuria. On the fourth day of life, after he failed treatment with diuretics, salbutamol, insulin, calcium gluconate and sodium bicarbonate, he was treated with sorbitol-free Kayexalate enemas. Potassium level slowly decreased from 9.2 mmol/l to normal level along with a recovery of normal urine output. On the 11th day of life, clinical and radiological signs of a perforated necrotizing enterocolitis (NEC) occurred and the patient required surgical intestinal resection. Histologic examination of the ileum specimen revealed areas of necrosis with fibrosis and giant cell reaction to a nonpolarizable material consistent with sodium polystyrene sulfonate. Usually, Kayexalate is suspended in hyperosmolar sorbitol solutions and the elevated osmolarity seems to be responsible for hemorrhagic colitis, transmural necrosis and definitely NEC. Our case report shows that Kayexalate per se, and not necessarily suspended in sorbitol, can lead to gastrointestinal tract complications and NEC in preterm infants.

Weaning of epoprostenol in a small infant receiving concomitant bosentan for severe pulmonary arterial hypertension secondary to bronchopulmonary dysplasia.

Endothelin receptor antagonism is an important therapeutic tool of pulmonary arterial hypertension (PAH). Bosentan was the first orally active, dual antagonist of endothelin receptors in human adults, and has been recently considered for children as well. However, little is known about bosentan treatment in children weighing less than 10 kg. We describe the use of bosentan concomitantly to epoprostenol in an infant weighing 3.5 kg and affected with severe bronchopulmonary dysplasia (BPD) and PAH. At 5 months old, when she presented subsystemic PAH secondary to severe BPD, she was treated with oxygen, digoxin and diuretics. At 8 months old, due to severe PAH not responsive to 100% oxygen, high frequency oscillatory ventilation (HFOV) and nitric oxide (NO), we started epoprostenol and bosentan. Bosentan dose was doubled at 9 months old, when HFOV and NO were slowly discontinued due to improved oxygenation index. Regular echocardiographic measurements of systolic right ventricular pressure were recorded by the method of tricuspidal atrio-ventricular gradient. A four-month combined epoprostenol and bosentan treatment decreased systolic right ventricular pressure from 68% to 40% of the systemic level, till its normalization at 11 months old. Later, when bosentan and epoprostenol were discontinued and sildenafil was started, severe PAH was reported again. Our patient died due to septic shock and refractory hypoxia at 14 months old.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation.

[Positioning of umbilical vein catheter with ECG-guided technique: randomized study]. / Posizionamento del catetere ombelicale venoso con tecnica ECG-guidata: studio randomizzato.

GOAL: To evaluate the effectiveness of electrocardiography-guided technique to aid in the correct positioning of umbilical vein catheters. DESIGN: A prospective, randomized controlled study. METHODS: Term and preterm newborns who required an umbilical venous catheter were managed by an ECG-guided technique (group A) or by a conventional method (group B). Correct positioning was defined by a chest-X-ray when the catheter tip was located above the diaphragm and outside the right atrium. For the ECG-guided technique we utilized a conductive device Vygocard (Medival, Padova) inserted in a 3-way stopcock connected with the catheter. The catheter was inserted under ECG observation until the appearance of a tall P-wave in lead III, which indicated the tip was within the right atrium. The catheter was then withdrawn until the P wave size returned to normal. RESULTS: We enrolled 44 patients (16 F, 28 M). Median gestational age (GA) and birth weight (BW) were 34 weeks (range 26-41) and 2130 g. (590-3870), respectively. Sex distribution, GA, BW and Apgar scores were not different between patients in group A (n = 22) and group B (n = 22). Catheters could not be advanced till the estimated insertion depth in 11 patients (A = 5, B = 6). In the remaining 33 patients, correct tip placement was more frequent in group A (88%) compared with group B (50%) (p = 0.021 by Fisher's exact test). No side effects specific to the ECG-guided method were noted. CONCLUSIONS: The ECG-guided technique seems to be a safe and effective method for the proper placement of umbilical vein catheters in newborns.

Survival and disease complications in thalassemia major.

We studied survival and disease complications in 1,146 patients with thalassemia major, born from January 1, 1960 to December 31, 1987. At last follow-up, in March 1997, probability of survival to age 20 years was 89% and to age 25 years was 82% for patients born in the years 1970-1974. Patients who died had a serum ferritin level, measured the year before death, significantly higher than those who survived. Diabetes was present in 5.4% of the patients; heart failure in 6.4%; arrhythmias in 5.0%, thrombosis in 1.1%, hypothyroidism in 11.6%, HIV infection in 1.8%. Hypogonadism was diagnosed in 55% of 578 patients who had reached pubertal age: 83.5% of hypogonadic females and 78.6% of males were receiving substitutive hormonal therapy. In conclusion, the survival of patients with thalassemia major is good and improving, but the prevalence of severe complications is still high.

A trial of high-dose dexamethasone therapy for chronic idiopathic thrombocytopenic purpura in childhood.

OBJECTIVE: To determine the efficacy of high-dose dexamethasone in chronic idiopathic thrombocytopenic purpura of childhood. METHODS: Seventeen patients entered the protocol. Dexamethasone was to be given orally in two divided doses at a dosage of 20 mg/m2 for 4 consecutive days every 28 days for six courses. RESULTS: One month after the end of the sixth course, six patients (35%) had platelet values within the normal range. One year later, five patients (29%) still have normal platelet values. Five patients discontinued treatment before completion because of lack of response and in one case for important side effects. Duration of the disease before treatment was inversely correlated with response to dexamethasone: 5 of 10 patients who had had thrombocytopenia for 30 months or less went into remission, as opposed to none of the seven who had been sick for a longer period (p = 0.04). Side effects included fatigue or irritability, anxiety, abdominal pain, striae, hirsutism, acne, and weight gain. CONCLUSIONS: Contrary to what is observed in adults, in our patients pulsed dexamethasone therapy did not prove to be uniformly effective. However, in view of its effectiveness in a third of the patients, acceptable side effects, and low cost, we believe that this treatment could be considered in patients with chronic idiopathic thrombocytopenic purpura who do not tolerate the disease well, especially if no more than 3 years have elapsed since diagnosis. Larger studies will be necessary to define which patients will respond to this type of therapy.

Successful pregnancy after bone marrow transplantation for thalassaemia.

Bone marrow transplantation from an HLA-identical sibling can cure thalassaemia. The risk of chemotherapy-induced sterility, however, represents a deterrent for many patients already at risk of gonadal insufficiency and reduced fertility because of the effects of transfusional iron overload. We report here the first patient transplanted for thalassaemia, after ablative therapy with busulfan and cyclophosphamide, who, despite late pubertal maturation, became pregnant and delivered a full-term, normal infant.