Fabrizio Ciralli

Reparation of a Severe Case of Aplasia cutis congenita with Engineered Skin

Aplasia cutis congenita (ACC) is an uncommon congenital malformation. It is characterized by defects of the skin that occur most frequently on the scalp along the midline, but can also be localized on the trunk, face and limbs, usually with a symmetrical distribution. When it is localized in the skull it can extend to the dura mater, leaving only the thin pia mater to protect the brain. The most common complications related to this disorder are infection, hemorrhage, and, in defects localized on the vertex, meningitis and bleeding from the sagittal sinus can occur with dramatic consequences. In those cases some authors suggest the use of local flaps even if this implies a surgical procedure. In this case a 2.540-kg baby was delivered at 40 weeks of gestation be eutocic delivery, and good adaptation to extrauterine life. At birth the baby showed a large cutaneous and osseous defect at the vertex measuring 68 cm2, equal to almost one third of the calvarial surface, and extended to the dura mater through which it was possible to see the sagittal sinus and the brain surface with its vessels. Skull X-rays showed loss of normal radioopacity of the cranial vault with lack of ossification especially at the parietal level. In our patient we therefore decided to use a composite graft of cultured autologous fibroblasts and keratinocytes to provide coverage, avoiding any surgical procedure and patient morbidity. This technique consists first in an autograft of cultured fibroblasts which has proved to promote the production of type IV collagen, fibronectin and laminin whereby creating an ideal bed for the taking of the graft of cultured keratinocytes, to be put in place a week later. The use of a composite graft with both the derma-like and epithelial components has been also suggested to diminish scarring. Two months after the last graft area was completely closed.

Changes over time in delivery room management of extremely low birth weight infants in Italy

AIM To identify changes in practice between two historical periods (2002 vs. 2011) in early delivery room (DR) management of ELBWI in Italian tertiary centres. METHODS A questionnaire was sent to the directors of all Italian level III centres between April and August 2012. The same questionnaire was used in a national survey conducted in 2002. Among the participating centres, those that filled the questionnaire in both study periods were selected for inclusion in this study. RESULTS There was an 88% (n=76/86) and 92% (n=98/107) response rate in the 2 surveys, respectively. The two groups overlapped for 64 centres. During the study period, the use of polyethylene bags/wraps increased from 4.7% to 59.4% of the centres. The units using 100% oxygen concentrations to initiate resuscitation of ELBWI decreased from 56.2% to 6.2%. The approach to respiratory management was changed for the majority of the examined issues: positive pressure ventilation (PPV) administered through a T-piece resuscitator (from 14.0% to 85.9%); use of PEEP during PPV (from 35.9% to 95.3%); use of CPAP (from 43.1% to 86.2%). From 2002 to 2011, the percentages of ELBWI intubated in DR decreased in favor of those managed with N-CPAP; ELBWI receiving chest compressions and medications at birth were clinically comparable. CONCLUSIONS During the two study periods, the approach to the ELBWI at birth significantly changed. More attention was devoted to temperature control, use of oxygen, and less-invasive respiratory support. Nevertheless, some relevant interventions were not uniformly followed by the surveyed centres.

Nasal Continuous Positive Airway Pressure With Heliox in Preterm Infants With Respiratory Distress Syndrome

OBJECTIVE: To assess the therapeutic effects of breathing a low-density helium and oxygen mixture (heliox, 80% helium and 20% oxygen) in premature infants with respiratory distress syndrome (RDS) treated with nasal continuous positive airway pressure (NCPAP). METHODS: Infants born between 28 and 32 weeks of gestational age with radiologic findings and clinical symptoms of RDS and requiring respiratory support with NCPAP within the first hour of life were included. These infants were randomly assigned to receive either standard medical air (control group) or a 4:1 helium and oxygen mixture (heliox group) during the first 12 hours of enrollment, followed by medical air until NCPAP was no longer needed. RESULTS: From February 2008 to September 2010, 51 newborn infants were randomly assigned to two groups, 24 in the control group and 27 in the heliox group. NCPAP with heliox significantly decreased the risk of mechanical ventilation in comparison with NCPAP with medical air (14.8% vs 45.8%). CONCLUSIONS: Heliox increases the effectiveness of NCPAP in the treatment of RDS in premature infants.

Oxygen administration for the resuscitation of term and preterm infants

Oxygen has been widely used in neonatal resuscitation for about 300 years. In October 2010, the International Liaison Committee on Neonatal Resuscitation released new guidelines. Based on experimental studies and randomized clinical trials, the recommendations on evaluation and monitoring of oxygenation status and oxygen supplementation in the delivery room were revised in detail. They include: inaccuracy of oxygenation clinical assessment (colour), mandatory use of pulse oximeter, specific saturation targets and oxygen concentrations during positive pressure ventilation in preterm and term infants. In this review, we describe oxygen management in the delivery room in terms of clinical assessment, monitoring, treatment and the gap of knowledge.

Delivery room management of extremely low birthweight infants shows marked geographical variations in Italy

To evaluate any geographical variations in practice and adherence to international guidelines for early delivery room management of extremely low birthweight (ELBW) infants in the North, Centre and South of Italy.

Fetoscopic Endoluminal Tracheal Occlusion in Fetuses with Severe Diaphragmatic Hernia: A Three-Year Single-Center Experience.

Objective: To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (CDH) by fetoscopic endoluminal tracheal occlusion (FETO). Methods: Between 2012 and 2014, FETO was performed at our center in 21 cases of CDH considered to be severe based on sonographic measurement of observed/expected lung-to-head ratio (O/E LHR) and side of the defect. We reported pre- and postoperative ultrasound findings, procedure-related complications, pregnancy outcome and survival at 1-3 years of age. Results: The median gestational age (GA) at balloon insertion was 28.1 weeks (range 26.0-31.1) and the median GA at delivery 34.7 weeks (range 31.6-39.0); delivery before 32 and 34 weeks occurred in 2 (9.5%) and 7 (33.3%) cases, respectively. Postnatal survival at 1-3 years of age in the 17 cases with isolated unilateral CDH was 47.1%. The percentage difference between pre-balloon removal O/E LHR and pre-FETO O/E LHR was significantly higher in survivors compared to neonates who died (40.8 vs. 21.2%, respectively; p < 0.05). Conclusions: In this study, FETO was associated with an infant survival of 47% in cases with isolated unilateral severe CDH. The post-FETO increase in O/E LHR was higher in fetuses that survived compared to those who died.

Prenatal and postnatal findings in five cases of Fryns syndrome

It is characterized by a variety of congenitalanomalies, such as diaphragmatic hernia, facial dysmorphisms(coarse face, hypertelorism, broad and flat nasal bridge withthick nasal tip, long philtrum, tented upper lip, wide mouth,micrognathia, low-set and poorly formed ears), distal digitalhypoplasia, and others (cerebral, ocular, cardiovascular,genitourinary).

HbA1c Determination on Capillary Blood Sample: Validity, Stability, and Potential Usefulness

The Diabetes Control and Complications Trial has clearly confirmed that good metabolic control, as suggested by low levels of glycated hemoglobin, can significantly reduce the risk of microvascular diabetic complications (1). Standard determination of glycated hemoglobin is usually performed on blood samples obtained by venipuncture; but the patients, especially the younger ones, do not easily accept this procedure. Recently, an immunochemical procedure to assess HbAlc on 1 ji\ of capillary blood sample after finger-prick testing was developed. The main advantages of this procedure are the possibility to avoid the venipuncture and to have the HbAlc values within minutes, i.e., during the routine clinical examination of the patient. However, this new diagnostic procedure could permit other benefits, such as a better therapeutic approach in patients with poor metabolic control and poor compliance, as frequently observed during adolescence. Adolescent diabetic patients require strict follow-up because of great risk of metabolic derangement (2) and initial appearance of microvascular complications (3), but these patients easily mystify or do not perform capillary blood glucose determinations and they do not accept regular visits at the diabetic clinic. Metabolic control of adolescent diabetic patients could be accurately monitored and eventually improved by frequent determination of HbAlc; however, this procedure could be better accepted by the patients if samples were easily collected at home. For these reasons, we have studied the stability of HbAlc, assessed by immunochemical assay (DCA 2000, Bayer Diagnostic, Milan, Italy) on capillary blood samples collected after finger prick and stored at room temperature for 3 days. Moreover, we have considered the relationship between HbAlc assessed by standard highperformance liquid chromatography (HPLC) (Diamat TM, Bio-Rad, Milan, Italy) and the immunochemical assay, and we have calculated the intra-assay coefficient of variation of the latter method. The immunochemical assay for capillary HbAlc, is based on inhibition of latex immunoagglutination. HbAlc in the specimen competes with an agglutinator (Synthetic polymer containing multiple copies of the immunoreactive portion of HbAlc) for latex coated with monoclonal antibody specific for HbAlc. Comparison between the immunochemical assay and the standard HPLC assay was performed on capillary blood drops for the immunochemical assay and venous blood samples for the standard HPLC assay; both samples were collected simultaneously in 35 (19 women, 16 men) diabetic patients: mean ± SD age 14.3 ±3 .4 years; mean duration of diabetes 8.7 ± 4.9 years. Venous HbAlc has been assessed by HPLC the day after the collection, storing the samples at 5°C, because it has been reported that storage at 2-8°C up to 7 days does not modify the results (4).

Fetal Doppler changes 1 week after endoscopic equatorial laser for twin‐to‐twin transfusion syndrome: A longitudinal study

To investigate sequential Doppler changes in donors and recipients before and 1 week after endoscopic laser for twin‐to‐twin transfusion syndrome (TTTS) and to examine factors that may be associated with such changes.

The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy

Rationale: Lymphatic malformations (LMs) are rare and benign anomalies resulting from the defective embryological development of the primordial lymphatic structures. Due to their permeative growth throughout all tissue layers, treatment is often challenging. Small asymptomatic lesions can be conservatively managed, while symptomatic lesions require active management. Surgery has been historically considered the treatment of choice, but today less invasive therapeutic options are preferred (sclerotherapy, laser therapy, oral medications). However, there are not uniform therapeutic protocols. Sirolimus is an oral medication that has been reported to be effective in the recent literature. Here we present the case of 4 newborns with giant multicystic lymphangioma treated with oral sirolimus after surgical resection had failed. Patient concerns: At birth the LMs were clinically appreciated as giant masses involving different organs and structures. Diagnoses: All patients had a prenatal diagnosis of giant multicystic lymphangioma confirmed at histological and cytological analysis. Interventions: Patients were treated with oral sirolimus after unsuccessful surgical resection. Outcomes: In all patients, sirolimus determined an overall reduction of the mass and a global involution from the macro- to the microcystic composition. Sirolimus was safe and poor disadvantages had been observed. The main and isolated adverse effect at laboratory analysis was progressive dyslipidemia, with increasing levels of total cholesterol and triglycerides. Lessons: To date, our experience with sirolimus in the management of LMs is favorable. We recommend the use of sirolimus after unsuccessful surgical excision have been tried or when the surgical approach is not feasible. A multidisciplinary follow-up is needed to monitor disease evolution.