[An unusual case of "complicated" adrenal hemorrhage]. / Un insolito caso di emorragia surrenalica "complicata".

This case report concerns a newborn with bilateral adrenal massive hemorrhage complicated by inferior cava vein thrombosis, hypertension and encephalopathy to elaborate diagnostic and therapeutic problem of neonatal thromboembolic events. Increasing of risk population (extreme prematurity), improvement of imaging, laboratory and neonatologist care enhanced in recent years the diagnosis of this group of diseases. Even if literature about this subject is poor, we remark the significant effort of neonatologist to revise and update neonatal guidelines and the relevance of the institution of the National Registry of Neonatal Thrombosis (RITI).

Respiratory disorders and hospitalization rates during the second RSV season in preterm infants who received palivizumab prophylaxis during their first RSV season.

This prospective study evaluated the frequency and severity of respiratory symptoms during the second respiratory syncytial virus (RSV) season in an italian cohort of preterm infants (< or = 35 weeks) who had received palivizumab prophylaxis in their first year of life (October 2004-April 2005) and who had not previously been hospitalized for RSV-induced lower respiratory tract infection (LRTI). infants were evaluated at enrolment (May-September 2005), in October/November 2005 and in April 2006. The occurrence of any respiratory episode, the rate of hospitalization for respiratory-related LRTI, total length of stay in hospital, physician-documented recurrent wheezing (>or = 3 physician-documented episodes of wheezing) and use of airway medication/antibiotics were recorded during follow-up. All infants had prior palivizumab prophylaxis during their first RSV season. In the total evaluable population (n=260), 32.3% of infants experienced at least one respiratory episode, 3.8% required short hospitalization because of LRTI, 8.5% had physician-documented recurrent wheezing, and 48.8% required airway medications/antibiotics during follow-up. in this study the rate of airway morbidity, hospitalization and physician-documented recurrent wheezing during the second RSV season was low among preterm infants who had received prior palivizumab prophylaxis.

The modified Lapidus arthrodesis: a retrospective analysis.

The authors present a review of 47 modified Lapidus arthrodesis procedures performed between 1985 and 1995. There were 29 females and 10 males. Eight patients underwent bilateral procedures. The average follow-up was 6.3 years (range, 1.5-10.6 years). The patients were evaluated preoperatively and postoperatively using standard weightbearing radiographs, clinical examination, and chart review. The average preoperative intermetatarsal angle was 13.8 degrees degrees, and the average postoperative intermetatarsal angle measured 2.1 degrees degrees, with a mean improvement of 10.8 degrees. The average effective shortening of the first metatarsal was 4.7 mm in those patients without bone graft. In patients whom bone graft was utilized, an average effective increase in first metatarsal length of 2.6 mm was identified. Complications included delayed union (n = 2), nonunion (n = 3), postoperative development of hyperkeratosis beneath the second metatarsal head (n = 4), elevation of the first ray (n = 3), and hallux varus (n = 2). There were no recurrences of hallux abducto valgus at follow-up. The average return to preoperative activity level was 13 weeks. Forty-two of the 47 procedures healed uneventfully. Of the remaining five feet, two required the use of a bone growth stimulator, and three required revisional surgery with autogenous bone graft to promote arthrodesis and restore alignment. In conclusion, the modified Lapidus arthrodesis is both a predictable and durable procedure for the correction of hallux abducto valgus.

Practical applications of monitoring respiratory mechanics in newborn.

The authors evaluate the use of data supplied by common systems used to calculate respiratory mechanics in newborns in order to analyse the impact on the management of patients requiring assisted ventilation. Over the past few years, the sale of respiratory monitors that are easier to use and less complicated to manage, as well as being less expensive, has meant that nearly every Neonatal ICU can now determine, in real time, both the causes of respiratory insufficiency and the conditions of the newborn lung during mechanical ventilation to ensure improved adaptation of ventilatory support. Leaving aside a discussion of respiratory physiopathology and the principles regulating pulmonary ventilation, the authors focus on the practical effect that data normally supplied by this type of apparatus (airway pressure, inspiration and expiration airflow, expiration minute volume calculated for each respiratory act, tidal volume, system leaks and dynamic compliance) have on the ventilatory "setting" chosen by the clinician or on the diagnosis of some commonly found situations during neonatal mechanical ventilation. The experience described concerns the impression of clinicians, skilled in the management of patients receiving conventional artificial ventilation but not so attracted by respiratory physiopathology, regarding the value of such instruments. The unanimous positive opinion confirms the thesis whereby respiratory monitoring can certainly help the neonatologist make a real time evaluation of both the causes leading to respiratory failure and the effect on the lung of any therapeutic decisions.

Growth hormone, insulin-like growth factor-I and somatostatin in human fetus, newborn, mother plasma and amniotic fluid.

During pregnancy, organism development and its differentiation are stimulated and modulated by fetal and placental hormones. However the exact role played by all the different growth factors has not been explained yet. This study summarizes knowledge about secretion, regulation and role of GH, IGF-1 and SRIF during perinatal age. It also reports the results of researches into GH, IGF-1 and SRIF in amniotic fluid, in mothers and in newborns at delivery and at four days of age. Amniotic fluid GH levels proved significantly higher during middle pregnancy that at delivery (p < 0.001); a significant difference was also found between mean GH concentrations observed in amniotic fluid collected at delivery in preterm and full-term pregnancies. In amniotic fluid, significant reductions of SRIF and IGF-1 concentrations correspond to a sudden decrease of GH concentration during the last months of pregnancy. Fetal serum GH levels resulted higher than venous cordonal GH concentration at birth (p < 0.001). High levels of IGF-1 were found in the amniotic fluid and in the maternal plasma. These values were higher than those observed in cord blood during pregnancy or at delivery. Preterm and full-term newborns showed similar serum GH levels at birth and at the age of 4 days. Mean GH values in newborns, both at birth and at the age of 4 days, proved to be significantly higher than the values of their mothers (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

[Transient changes in thyroid function in the neonatal period]. / Alterazioni transitorie della funzionalità tiroidea in periodo neonatale.

Transient neonatal hypothyroidism (TH) is a state biochemically characterized by altered TSH and T4 values at screening and subsequently confirmed by serum analysis. TH can go or not go along with clinical manifestations of hypothyroidism and evolves to the normalization of the thyroid functional capacity independently of substitutive therapy. In addition to the complete TH the application of screening programs for congenital hypothyroidism has enable to acknowledge partial changes of the thyroid functional capacity in the neonatal age characterized by isolated anomalies of the individual hormonal parameters. Since the incidence of neonatal TH in Italy is remarkably high (the forms of complete TH being not less than 20% of the hypothyroidism cases diagnosed at the screening) we want to provide an overview of the latest acquisitions regarding TH. Finally the indications for treatment of the various forms of TH, a still controversial matter, are considered, in consideration of the primary role played by thyroid hormones on the development of central nervous system in the perinatal age.

Effects of iopamidol on neonatal thyroid function.

The effects of Iopamidol on neonatal thyroid function have been investigated. Since the basic molecule is non-ionic, thyroid function is not damaged, even when large quantities of contrast media are employed.

Thyroid autoimmunity: really an important cause of sporadic congenital hypothyroidism?

The transplacental transfer of maternal antithyroid antibodies has recently been hypothesised as an aetiological factor in CH. In order to test this hypothesis, mothers and newborns identified by neonatal screening as suffering from hypothyroidism were tested for TgAb, MAb and TSHBAb. Significant titres of MAb and TgAb antibodies were found in 5% of the newborns and their mothers. TSHBAb was found in 1 out of 18 newborns and 1 out of 14 mothers. A causal link was found between the transplacental transfer of IgG inhibiting thyroid growth and function induced by TSH from a mother with Hashimoto's thyroiditis a newborn with CH and in her CH newborn. However the present series did not reveal the high percentage of cases with CH and thyroid antibodies reported by others and particularly not among the neonates born to mothers without any kind of maternal thyroid pathology. It therefore seems that the role of autoimmunity in the pathogenesis of CH and TH is yet to be clarified.

[Defects of thyroid hormone synthesis: nosographic study and proposal for a protocol for differential diagnosis]. / Difetti dell'ormonogenesi tiroidea: inquadramento nosografico e proposta di un protocollo di diagnosi differenziale.

In addition to the forms of congenital hypothyroidism caused by dysgenesis of the thyroid gland (agenesia, ectopy), this phenomenon may be caused by enzyme deficiencies of the thyroid hormone synthetic process. These defects, which are hereditary and transmitted as recessive autosomic characters, are clinically manifest in homozygotic subjects in the form of goitres which appears during the neonatal age or, as in more common, during later infancy. At present, mass neonatal screening allows this phenomenon to be diagnosed during the first days of life. The diagnosis of hypothyroidism caused by enzyme deficiency is made on the basis of radioisotopic and ultrasonic studies, and by the assay of plasma levels of thyroglobulin. The exact definition of the specific enzyme activity which is lacking in each case is more complex and has still to be resolved. This study describes the biochemical and pathogenetic characteristics of the different thyroid hormone synthesis defects and includes the findings of previously published diagnosis tests in order to identify the missing enzymatic activity. Lastly, a protocol for the differential diagnosis of the various types of defect is outlined. A specific etiological definition of the altered thyroid metabolism, while providing further insight into the physiopathology of the thyroid and the epidemiology of enzymatic hormone synthesis defects, should not be a motive for delaying the start of substitutive therapy at the earliest possible stage.

Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.

Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). Prenatal diagnosis is based on safe chorionic villus sampling procedures. We test acid lipase activity in cultured chorionic villus cells, selected from a biopsy performed during the 8th week of pregnancy. We now report the first prenatal diagnosis of heterozygosity for Wolman's disease during the first trimester of pregnancy. Reduced acid lipase activity was shown in the chorionic villi cells using a natural substrate (Cholesterol 14C oleate). The diagnosis was confirmed by the demonstration of reduced acid lipase activity in cultured amniotic cells and in the newborn lymphocytes. Early prenatal diagnosis in pregnancies at risk for lysosomal storage diseases is possible when enzyme activity levels in chorionic villi are similar to those in cultured amniotic cells and in infant cells.

[Usefulness of protein C in the early diagnosis of acute infection in newborn infants at risk]. / L'utilità della proteina C nella diagnosi precoce di infezione acuta nei neonati a rischio.

The serum concentration of protein C reactive (PCR) in preterm and term children was assessed on the first, fifth, eighth and fifteenth day of life. The data obtained show that in all cases characterised by PCR values higher than 10 mg/l on the first day of life a serious infectious pathology was present which required antibiotic treatment, monitored by subsequent PCR samplings. In all cases in which PCR was negative on the first day of life and in later samples, none had presented infectious pathologies. Analysis of the results showed that so-called borderline values (greater than 2 mg/l less than 10 mg/l) were present in some newborns at risk for the development of infectious pathologies. These children were subjected to antibiotic therapy as prophylaxis and in subsequent samples PCR became totally negative.

[The collodion baby. Nosographic assessment and description of 2 clinical cases]. / Collodion baby. Inquadramento nosografico e descrizione di due casi clinici.

Newborns with clinically evident forms of congenital ichthyosis are generally classified as "collodion babies" in view of the particular appearance of their skin that looks rather like a membrane of dried cellophane. This is an extremely rare clinical picture that may be the expression of various types of ichthyosis. The present paper describes two cases of collodion baby with a report on the latest discoveries about the physiopathology of the condition and the current classification of its congenital forms.

A case of acid lipase deficiency: Wolman's disease.

We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their peripherical metabolism. Onset of the disease occurs after the first month of life with hepatosplenomegaly, diarrhea, vomiting, abdominal distension, failure to thrive. Diagnosis, suspected because of calcifications of the adrenals was achieved by demonstration of lysosomal acid lipase deficiency in lymphocytes and cultured skin fibroblasts. Carriers of the disease can be identified by enzyme assays in lymphocytes and fibroblasts and prenatal diagnosis can be accomplished by lysosomal acid lipase assays in cultured amniotic fluid cells and chorionic villi.