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.

Growth factors and metabolic markers in cord blood: relationship to birth weight and length.

Low birth weight and length for gestational age are associated with a high risk of short stature and metabolic syndrome in adulthood. The mechanisms that link prenatal growth to adult stature and metabolic syndrome have not yet been entirely clarified. The aim of our study was to evaluate the relationship between standardized anthropometric measures at birth and insulin-like growth factor (IGF)-I, IGF-II, insulin, adiponectin, and non-esterified fatty acid (NEFA) cord blood levels in the general population. One hundred fifty-eight random newborn subjects (77F, 81M) from Genoa, Italy, were analyzed. Anthropometric parameters were measured and standardized according to standard Italian tables. Insulin values were treated as categorical, since in several cases the results fell below detection cut-off. Mean birth weight was 3,214.23∓488.99 gr and mean length was 49.82∓2.17 cm. Females had higher mean IGF-I (p=0.04), and were more likely to have insulin values either <2 μU/ml or >4.5μU/ml (p= 0.04) compared to males. Weight and length SD scores (SDS) were higher in subjects with elevated insulin levels (p=0.002). A moderate correlation was found between weight and IGF-II (r=0.354). Multivariable analysis demonstrated that standardized birth weight was associated with IGFII and insulin values. Our data highlight the importance of IGF-II in fetal growth and suggest that gender differences should be taken into consideration when evaluating prenatal growth.

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.

The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome.

Lymphedema can be present in patients affected by Turner syndrome (TS) with the dorsum of the hands and feet most commonly affected. This lymphedema results from underdevelopment of the lymphatic system before birth, and it usually decreases during childhood. The aim of our study was to evaluate the role of lymphoscintigraphy as a diagnostic tool in patients with TS to assess possible impairments in the lymphatic system. Eighteen patients with TS were karyotyped to confirm diagnosis and were evaluated by lymphoscintigraphy. Lymphatic dysfunction was demonstrated in 15/18 patients. Lymphoscintigraphic studies showed: 1) lymphatic channels, 2) collateral lymphatic channels, 3) interrupted lymphatic structures, and 4) lymph nodes of the deep lymphatic system. Our data demonstrate that lymphoscintigraphy should be mandatory not only in patients affected by Turner syndrome with signs of lymphatic dysplasia but also in those with minimal or absent signs of lymphatic impairment in order to obtain a very early diagnosis and to provide substantial information for possible medical or surgical treatment.

Volume targeted ventilation (volume guarantee) in the weaning phase of premature newborn infants.

OBJECTIVE: Several options are currently available in neonatal mechanical ventilation: complete breathing synchronization (patient triggered ventilation, synchronized intermittent positive pressure ventilation--SIPPV); positive pressure flow-cycled ventilation (pressure support ventilation, PSV); and volume targeted positive pressure ventilation (volume guarantee, VG). The software algorithm for the guarantee volume attempts to deliver a tidal volume (Vt) as close as possible to what has been selected by the clinician as the target volume. Main objectives of the present study were to compare patient-ventilator interactions and Vt variability in premature infants recovering from respiratory distress syndrome (RDS) who were weaned by various ventilator modes (SIMV/PSV + VG/SIPPV + VG and SIMV + VG). METHODS: This was a short-term crossover trial in which each infant served as his/her own control. Ten premature infants born before the 32nd week of gestation in the recovery phase of RDS were enrolled in the study. All recruited infants started ventilation with SIPPV and in the weaning phase were switched to synchronized intermittent mandatory ventilation (SIMV). Baseline data were collected during an initial 20-min period of monitoring with the infant receiving SIMV alone, then they were switched to SIPPV + VG for a 20-min period and then switched back to SIMV for 15 min. Next, they were switched to PSV + VG for the study period and switched back to SIMV for a further 15 min. Finally, they were switched to SIMV + VG and, at the end of monitoring, they were again switched back to SIMV alone. RESULTS: Each mode combined with VG discharged comparable Vts, which were very close to the target volume. Among the VG-combined modes, mean variability of Vt from preset Vt was significantly different. Variability from the target value was significantly lower in SIPPV and PSV modes than in SIMV (P < 0.0001 and P < 0.04 respectively). SIPPV + VG showed greater stability of Vt, fewer large breaths, lower respiratory rate, and allowed for lower peak inspiratory pressure than what was delivered by the ventilator during other modes. No significant changes in blood gases were observed after each of the study periods. CONCLUSIONS: With regards to the weaning phase, among combined modes, both of the ones in which every breath is supported (SIPPV/PSV) are likely to be the most effective in the delivery of stable Vt using a low working pressure, thus, at least in the short term, likely more gentle for the neonatal lung. In summary, we can suggest that the VG option, when combined with traditional, patient triggered ventilation, adheres very closely to the proposed theoretical algorithm, achieving highly effective ventilation.

Body mass index and hypothalamic morphology on MRI in children with congenital midline cerebral abnormalities.

Obesity is common in children with congenital midline defects of the brain, due to various endocrine reasons: hypothyroidism, growth hormone deficiency and inappropriate cortisol replacement. However, obesity occurs more often in the absence of an endocrinopathy. We reviewed 31 patients (10 females, 21 males) with midline intracranial defects (holoprosencephaly, absence of septum pellucidum, absence of corpus callosum, optic nerve hypoplasia) and correlated the morphology of the hypothalamus with body mass index (BMI), as BMI SDS. Endocrinopathies were present in 16 out of the 31 patients. We conclude that there was a trend of increasing mean BMI SDS with increasing hypothalamic abnormality, although this was not statistically significant.

Disorders of pubertal development.

Puberty is the period of life during which reproductive capability is acquired. It is characterized clinically by the acquisition of secondary sexual characteristics associated with a growth spurt, and on average takes 3-4 years. Early maturation is defined as the development of sexual characteristics before the age of 8 years in girls and 9 years in boys. Delayed puberty is defined when there are no signs of puberty at the age of 13.4 years in girls and 14 years in boys (2 SD above the mean of chronological age for the onset of puberty). There are many forms of premature sexual maturation: gonadotrophin-dependent (central, or 'idiopathic' or 'true' precocious puberty) and gonadotrophin-independent precocious puberty (McCune-Albright syndrome in girls, testotoxicosis in boys); isolated premature thelarche (in the forms of classical, atypical and variant); premature adrenarche (characterized by the production of significant quantities of androgens between 5 and 8 years of age); premature menarche. The differential diagnosis of delayed puberty is between constitutional delay of growth and puberty, pubertal delay secondary to chronic disease and hypogonadotrophic hypogonadism.

Growth hormone treatment does not alter lower limb asymmetry in children with Russell-Silver syndrome.

BACKGROUND: Growth hormone (GH) treatment has been proven to have a beneficial effect on growth in children with Russell-Silver syndrome (RSS). METHODS: We describe 7 prepubertal children with RSS and lower limb asymmetry treated with GH for 3 years. RESULTS: There was a significant increase in height without any significant change in the asymmetry. CONCLUSIONS: We conclude that the rapid growth acceleration to GH treatment does not alter the lower limb asymmetry in children with RSS.