EXIT (Ex utero Intrapartum Treatment) in lymphatic malformations of the head and neck: discussion of three cases and proposal of an EXIT-TTP (Team Time Procedure) list.

OBJECTIVES: Ex utero Intrapartum Treatment (EXIT) is a technique to secure the fetal airway while oxygenation is maintained through utero-placental circulation. The aim of the study is to present three cases of fetal lymphatic malformation of the head and neck that required EXIT and to summarize EXIT details. METHODS: The cases were studied before the delivery and EXIT was planned with a multidisciplinary team. The key factors of EXIT are considered and the type, stage and clinical score of the three lymphatic malformations are defined. RESULTS: In the three cases of EXIT the time working on placental support to secure the airway was 9, 7, and 9 min, respectively (from the hysterotomy to clamping the umbilical cord). Procedures performed on the airway were laryngo-tracheo-bronchoscopy in the first case, laryngoscopy and intubation in the second one, laryngoscopy, drainage of the lymphatic macro-cyst, and intubation in the third case. A sketching to detail the EXIT steps are presented: EXIT-Team Time Procedure list (EXIT-TTP list). Lymphatic malformations were classified as mixed (micro/macro-cystic) in two cases, and macro-cystic in one. de Serres Stage was IV, V and II. Therapy varied in the three neonates (surgery alone, surgery+Picibanil+Nd-YAG, or Picibanil alone). CONCLUSIONS: In case of prenatal suspicion of airway obstruction, EXIT should be planned with a multidisciplinary team. The EXIT-Team Time Procedure list (EXIT-TTP list), reviews the most critical phases of the procedure when different teams are working together. The type of lymphatic malformation, the anatomic location and the clinical score predict the outcome.

Early appearance of hypokalemia in Gitelman syndrome.

Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome. The main features of this syndrome include normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and hyperreninemia. These patients are at low risk for preterm birth and do not present with symptoms before school age. As a consequence, the condition is usually diagnosed in late childhood or in adult life. We report on four patients, two pairs of prematurely born twins, in whom hypokalemia was demonstrated early in life. In these children, a tendency towards hypokalemia was first noted during the third week of life. Overt hypokalemia subsequently appeared associated with normal blood pressure, hypochloremia, hyperreninemia, and an inappropriately high fractional excretion of potassium and chloride. Molecular biology studies failed to detect mutations in the SLC12A1, KCNJ1, and CLCNKB genes responsible for the Bartter syndromes type I, II and III, respectively. Compound heterozygous mutations in the SLC12A3 gene were detected in both pairs of twins: a frameshift mutation in exon 10 (c.1196_1202dup7bp), leading to the truncated protein p.Ser402X, and a missense mutation in exon 11, p.Ser475Cys (c.1424C>G) in the first pair; two missense mutations, p.Thr392Ile (c.1175C>T) in exon 9 and p.Ser615Leu in exon 15 (c.1844C>T), in the second pair. In conclusion, the diagnosis of Gitelman syndrome deserves consideration in infants with unexplained hypokalemia.

Pain management in the neonatal intensive care unit: a national survey in Italy.

BACKGROUND: This study assessed current medical practice in preventative analgesia and sedation for invasive procedures in neonatal intensive care units (NICU) in Italy. METHODS: A questionnaire was sent to level II and III Italian NICUs to investigate pain management, pharmacological treatment and the use of pain scores during invasive procedures. Main outcome measures were the extent to which analgesia and sedation are currently used for invasive procedures in Italian neonatal units. RESULTS: The rate of response to the questionnaire was 88%. Written guidelines were available on acute pain control in 25% of the NICUs, and on prolonged pain control in 50%. Routine use of preventative pharmacological and nonpharmacological measures for painful procedures ranged from 13% for elective tracheal intubation to 68% for chest tube insertion. Thirty-six percent of NICUs routinely use sedation with opioids for mechanical ventilation; 14% prevent distress and pain for tracheal suctioning, 44% for heel lancing, 50% for venepuncture and percutaneous venous catheter insertion; 58% use analgesia before lumbar puncture. Validated pain assessment scores were used by 19% of NICUs. CONCLUSIONS: The need for adequate analgesia is still underestimated. Further information on the safety of analgesics in neonatology is imperative, as is an adequate education of physicians and nurses on the use of pain control guidelines as part of the standard of care in the NICU.

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC]. / Basi genetiche della pneumopatia cronica interstiziale familiare. Studio familiare dell'SFTPC.

Mutations in the gene encoding surfactant protein C (SP-C) SFTPC have been found to be associated with chronic interstitial lung disease. A 5-year-old girl oxygen dependent from birth and affected by interstitial lung disease (ILD) is heterozygous for a T to C change in exon 3 resulting in the substitution of threonine for isoleucine at codon 73 (173T), already described in association with ILD. We studied 25 members of her family where the 173T mutation in the SP-C gene is associated to chronic pulmonary diseases. Five members in the mother's family showed respiratory diseases with great diversity in clinical features: her mother was affected by restrictive pneumopathy and emphysema, her grand-mother by asthma and recurrent pneumonia, 2 uncles underwent lung transplantation in the adult age, an aunt was clinically diagnosed having pulmonary fibrosis. All the family members affected by pulmonary diseases and one with no clinical symptoms showed the presence of the mutation 173T. Among the other family members the mutation was found in six subjects for whom no clinical data were available, yet. Our results confirm that heterozygosity for the mutation 173T may cause chronic inflammation of the lung or progressive pulmonary fibrosis. In addition, the possibility to study a large pedigree allowed us to perform a genotype-phenotype correlation indicating a marked phenotypic variability. The diversity in symptoms, age at onset, clinical course, duration of lung disease in the relatives sharing this mutation indicates an incomplete penetrance of the mutation. This might be due to the influence of other genetic factors thus indicating that the phenotype may be complicated by additional components.

Effect on respiratory function of pressure support ventilation versus synchronised intermittent mandatory ventilation in preterm infants.

Our objective was to compare the effects of pressure support ventilation and synchronized intermittent mandatory ventilation on respiratory function in preterm babies. Twenty preterm infants (mean gestational age, 29 weeks; mean weight at study, 1,354 g) were evaluated. Patients received two repeated cycles of synchronized intermittent mandatory ventilation, alternated with pressure support ventilation, for a total of four alternated phases, each phase lasting 4 hr. Spontaneous respiratory rate, tidal volume, minute volume, and mean airway pressure were recorded hourly. The tidal volume released by the ventilator was limited to 6 ml/kg. During the two pressure support ventilation phases, a statistically significant reduction of respiratory rate and a significant increase of tidal and minute volume were noted, as compared to the two synchronized intermittent mandatory ventilation periods. Mean airway pressure significantly increased only after the first shift from synchronized intermittent mandatory ventilation to pressure support ventilation. The changes of minute volume and respiratory rate observed during pressure support ventilation did not persist after the return to synchronized intermittent mandatory ventilation. In conclusion, pressure support ventilation, as compared to synchronized intermittent mandatory ventilation, seemed to improve respiratory function in preterm infants.