[Hypophosphatasia: a family study]. / Ipofosfatasia: studio di una famiglia.

Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.

[Resumption of breast feeding in low-birth-weight newborn infants]. / Recupero dell'allattamento al seno nei nati di basso peso.

It has been inquired into the possibility of the resumption of breast feeding in low birth weight babies, in the 101 survivors of the 128 infants weighing less than 2000 g at birth, who were born at St. Andrea Hospital in Vercelli between 1974-82. 86% of the mothers accepted to attempt breast feeding after the separation period for intensive care and the attempt the successful in 85% of the cases (73 infants). The resumption was successful with more than 90% of the infants weighting more than 1250 g at birth and 68.6% of these infants were exclusively breast-fed. 57% of those infants weighting less than 1250 g at birth resumed breast feeding. No infant developed an infectious disease nor necrotizing enterocolitis. Almost all of the mothers succeeded in maintaining breast feeding for a mean period of 5 months and all of them considered the experience extremely positive. The study demonstrated that it is possible to resume breast feeding in low birth weight babies with suitable encouragement and care on the part of the family, the doctors and the nurses.

Glucose or sucrose as an analgesic for newborns: a randomised controlled blind trial.

BACKGROUND: To evaluate the effect of different oral glucose or sucrose solutions on the pain response to heelstick in newborns. DESIGN: randomised double blind placebo controlled trial of water (control) versus one of three solutions of glucose - namely 5, 33 and 50% - or one of two solutions of sucrose (33% and 50%) or nothing. SETTING: postnatal ward. PATIENTS: seven groups of 20 healthy newborns (gestational age 38-41, weighing over 2500 g) were randomised to receive 2 ml of one of the six solutions on the tongue inmediately before heelstick procedure. MAIN OUTCOME MEASURE: heart rate before, during and three minutes after the procedure. RESULTS: Even if the trend of the cardiac rates did not reach statistic significance, glucose solution 33 and 50% proved to be the most effective in reducing pain response. CONCLUSIONS: Sweet solutions may be an easy, useful, safe and cheap analgesic for minor invasive procedures in newborns.

[Sex chromosome abnormality: report of three clinical cases of X pentasomy]. / Anormalità dei cromosomi sessuali: segnalazione di tre casi con pentasomia X.

Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.