Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia.

We performed lymphoscintigraphy on 31 patients (newborns and children) affected by congenital lymphatic dysplasia according to our previously published protocol. Congenital lymphatic dysplasia may present with various degrees of clinical severity, ranging from nonimmune hydrops fetalis with visceral effusions to lymphedema alone. We recommend that lymphoscintigraphy should be strongly considered in all patients with signs of lymphatic dysplasia, including those with minimal and initial signs of lymphatic impairment, in order to obtain a very early diagnosis and to start treatment. Lymphoscintigraphy is safe and useful in the diagnosis of lymphatic dysplasia in the newborn and children. Moreover, it is well tolerated by patients and well accepted by their parents.

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).

The proper tidal volume target using volume guarantee ventilation in the course of neonatal respiratory distress syndrome: a crucial endpoint.

Volume guarantee ventilation (VGV) is an optional ventilation mode which has become the most widely and extensively studied in the last 10 years in premature infants. Nonetheless, theoretical expected endpoints are intriguing and even though VGV has not yet become 'the' standard ventilation mode, a great deal of information has been acquired and stored. In our experience, VGV during the course of respiratory distress syndrome is useful and can be considered a standard ventilation mode. Weaning occurs in real time as described earlier, and synchronized intermittent positive pressure ventilation and pressure support ventilation (PSV) seem to be the preferred combined modes. Management during the acute phase requires more care since several sudden changes take place in both the lung mechanics and clinical behavior. The software is designed to protect the lung, and subsequently, sudden changes in lung compliance following iatrogenic procedures such as surfactant administration are powerfully counteracted. VGV has been extensively studied and the proposed algorithm has been found to function as planned. Although the 'superiority' of one method over another cannot be demonstrated, the use of new technologies require 'a staff learning curve' and homogeneity of treatment, while at the same time other factors, such as patient heterogeneity or illness phase, should be taken into due account.

A randomised control study comparing the Infant Flow Driver with nasal continuous positive airway pressure in preterm infants.

OBJECTIVE: To compare the effectiveness of the Infant Flow Driver (IFD) with single prong nasal continuous positive airway pressure (nCPAP) in preterm neonates affected by respiratory distress syndrome. DESIGN: Randomised controlled study. PATIENTS: Between September 1997 and March 1999, 36 preterm infants who were eligible for CPAP treatment were randomly selected for either nCPAP or IFD and studied prospectively for changes in oxygen requirement and/or respiratory rate. The requirement for mechanical ventilation, complications of treatment, and effects on mid-term outcome were also evaluated. RESULTS: Use of the IFD had a significantly beneficial effect on both oxygen requirement and respiratory rate (p < 0.0001) when compared with nCPAP. Moreover, O(2) requirement and respiratory rate were significantly decreased by four hours (p < 0.001 and p < 0.03 respectively). The probability of remaining supplementary oxygen free over the first 48 hours of treatment was significantly higher in patients treated with the IFD than with nCPAP (p < 0.02). IFD treated patients had a higher success (weaning) rate (94% v 72 %) and shorter duration of treatment (49.3 (31) v 56 (29.7) hours respectively; mean (SD)), although the difference was not significant. CONCLUSIONS: IFD appears to be a feasible device for managing respiratory distress syndrome in preterm infants, and benefits may be had with regard to oxygen requirement and respiratory rate when compared with nCPAP. The trend towards reduced requirement for mechanical ventilation, shorter clinical recovery time, and shorter duration of treatment requires further evaluation in a multicentre randomised clinical trial.

Branchio-Oto-renal syndrome: a report on nine family groups.

This study reviews nine new families with branchio-oto-renal (BOR) syndrome (Online Mendelian Inheritance in Man [OMIM] 113650). Diagnosis was made by studying 10 index cases, and then 22 other previously undetected patients were diagnosed within the nine families. The syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas. In our study, all patients first diagnosed in each familial group were recognized on the basis of severe renal anomalies associated with at least one of these symptoms. Our study showed that BOR syndrome is a misdiagnosed disorder, usually recognized in the presence of severe renal failure but often not diagnosed, especially in the adult in the presence of other isolated clinical signs, such as mild branchial or urological anomalies. We stress the meticulous search we performed for renal anomalies and/or hearing loss in all subjects showing minimal signs of branchial defects. BOR syndrome should be suspected in all cases of isolated urological anomalies, even if no other signs of the syndrome are present. After BOR syndrome has been diagnosed in a patient, all family members should be examined for the presence of the syndrome, even if there are only minimal stigmata of the disease.

Salicylic acid disposition in children with rheumatoid arthritis.

The plasma level profile of SA and SUA after a single oral dose of ASA was studied in 8 children with juvenile rheumatoid arthritis, aged 3.5-15.0 years. Pharmacokinetic parameters were on average similar to those reported in the literature for adult subjects, although a somewhat larger intersubject variability was found.

[Retroperitoneal teratoma. Description of a case]. / Teratoma retroperitoneale. Descrizione di un caso.

The Authors describe a case of asymptomatic retroperitoneal teratoma discovered on a routine examination in a six year-old male. Diagnosis was made pre-operatively on the base of CT scan imaging. Surgery allowed radical excision of the teratoma, which turned to be a totally benign entity.