46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.

A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.

Leptin concentration in newborns' cord blood: relationship to gender and growth-regulating hormones.

AIMS: To verify if plasma leptin concentrations of newborns at birth differ significantly between sexes; and to investigate the potential interactions between plasma leptin and growth-regulating hormones at birth. SUBJECTS: 98 healthy newborns (48 male, 50 female) were studied. Leptin, insulin, cortisol, insulin-like growth factor-1 (IGF-1), testosterone, and sex hormone binding globulin (SHBG) concentrations were measured from venous blood collected from the umbilical cord vein immediately after birth. RESULTS: The serum leptin concentration of newborns averaged 8.05(0.5) ng/ml. Females had significantly (P<0.005) higher serum leptin values than males [9. 6(0.8) vs 6.0(0.6) ng/ml]. IGF-1 was significantly (P<0.05) higher in females than in males [87(4) vs 74(5) microg/l], whereas SHBG was slightly lower [29(1) vs 33(2) nmol/l]. Insulin, cortisol, and testosterone serum concentrations were not statistically different between the sexes. Among the variables examined, birth weight (expressed as Z-score of weight) and insulin showed the highest degree of relationship with serum leptin in newborns (r=0.48 and r=0.31 respectively, P<0.001). Multiple regression analysis showed that Z-score of birth weight, gender and cortisol were able to account for approximately 44% of inter-individual variability of serum leptin concentrations in newborns. CONCLUSIONS: Female newborns have significantly higher serum leptin concentrations than males. Insulin, IGF-1, testosterone, and SHBG did not independently affect leptin inter-individual variability when gender, Z-score of body weight, and cortisol were taken into account. Other factors may be involved in the differences in circulating leptin concentrations between the sexes in newborns.

[Hematuria in pediatric clinical practice]. / L'ematuria in età pediatrica nella pratica clinica.

Haematuria, which was known at the time of Hippocrates, is defined as the presence of an anomalous number of red globules in the urine. It may present itself in a macroscopic or microscopic form. The latter is frequently found and is present in 1-2% of children. The pathogenesis of haematuria has been the object of recent acquisitions. The diagnosis is based in the first instance on the association of a positive urinary stick and confirmation of the presence of red globules in an assay of the sediment. The study of erythrocytic morphology is still the most useful test to identify the site of bleeding, even if more recently other markers, such as an excessive presence of acanthocytes or reduced mean corpuscle volume, together with the traditional study of cylindruria may represent elements to differentiate between glomerular and non-glomerular haematuria. Both family and personal medical history as well as objective examination play an important role in the definition of haematuria. Abdominal ultrasonography and biohumoral tests may, in association with the earlier data, allow a rapid and correct diagnosis of children with haematuria. A more detailed diagnosis using biopsy should be taken into consideration in selected cases, for example in familial forms that are not clearly defined and forms associated with altered renal function tests, as well as in persistent microhaematuria lasting for more than one year.

Renal tolerability of teicoplanin in a case of neonatal overdose.

The literature does not contain reports regarding teicoplanin overdose in newborns. In a neonate with a history of recent postasphyctic acute renal failure which recovered within 7 days of life, antibiotic therapy with teicoplanin was started for sepsis due to Staphylococcus hominis. However, for 5 days the dosage was excessive (20 mg/kg twice daily instead of an initial dose of 16 mg/kg and then doses of 8 mg/kg once daily). Once this error had been noted, therapy was immediately suspended. Clinically the newborn had improved and blood culture at the end of the therapy was negative. Biohumoral tests revealed constantly normal levels of serum creatinine, serum cystatin C and blood nitrogen. Urinary parameters of tubulotoxicity were also within normal values. Urinary epidermal growth factor was increased. Teicoplanin was well tolerated at the renal level in the newborn even in this case of excessive dosage.

[Vesico-ureteral reflux in pediatrics]. / Il reflusso vescico-ureterale in pediatria.

Vesico-ureteral reflux (VUR) is the most frequent uropathy involving 1-2% of children. Genetics, familiarity, race gender and age intervene in the pathogenesis of VUR. In particular, neonatal VUR seems to represent a specific entity. Different factors determine a renal damage due to RVU: direct action of VUR (back pression), urinary tract infection (UTI), inflammatory mechanisms and renal dysplasia. Micturing cystourethrography and nuclear cystography are currently performed for the diagnosis of VUR, being ultrasound examination aspecific. Functional parameters are now investigated in association with new morphologic studies. The strict relationship of VUR and UTI is discussed. The treatment (medical, surgical) of VUR is not well established, although some guidelines can be suggested. Finally an adequate support must be given to the family for an optimal management.

[Renal calculosis in pediatrics]. / La calcolosi renale in pediatria.

Urinary stones (calculi) are not a rare problem in pediatrics, presenting a prevalence of 1 case/20,000 children/year. Both nephrocalcinosis (deposition of calculi within the renal parenchyma) and urolithiasis (stone formation in the calyces, renal pelvis and bladder) may occur. Etiology of urinary stones involves metabolic, infectious, anatomic and idiopathic causes. Diagnosis and treatment require knowledge of a wide range of diseases. After urinary stones have been suspected, biohumoral tests and ultrasound examination should be routinely performed.

[Nutrition in chronic renal insufficiency in the first year of life]. / Nutrizione nell'insufficienza renale cronica nel primo anno di vita.

In the first year of life, period of maximal anabolism, optimal metabolic and nutritional conditions are strictly required. In fact growth retardation of the infant is seldom recoverable in the following pediatric ages. Conservative management of chronic renal failure in the first year of life is essentially dietetic. Normal growth is warranted by adequate protein intake (6-8% of total calories) and optimal caloric support (> 75-80% of RDA). Water requirements (evaluated on the basis of diuresis, hydratation and weight variations) must be administrated during the whole 24-hours period to avoid dehydration. Sodium and potassium limitations are not generally indicated and only in advanced phases must be carefully evaluated. On the contrary, in early stages, a reduction of phosphorus intake and calcium and vitamin D supplementation are commonly suggested. Maternal milk is the nutritional gold standard during the first year of life. Hyposmolar formula with normal Na and low P content (Ca/P ratio = 1.4-2) and a protein content comprised between 1.4 and 1.8 g/100 ml represent the second choice.